ClinVar Miner

List of variants studied for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41136
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_005050.4(ABCD4):c.1753-46A>G rs929449 0.99998
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_003126.4(SPTA1):c.6548+45A>C rs857717 0.99952
NM_003126.4(SPTA1):c.5189+35A>C rs2518492 0.99935
NM_000476.3(AK1):c.477T>C (p.Pro159=) rs913986 0.99820
NM_001014.5(RPS10):c.-1+218A>C rs4713778 0.99812
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_001142864.4(PIEZO1):c.1196-48A>G rs4782410 0.99677
NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala) rs2482965 0.99361
NM_000037.4(ANK1):c.129+125C>T rs486223 0.98833
NM_006996.3(SLC19A2):c.*60G>A rs2678166 0.98575
NM_000037.4(ANK1):c.*2152T>G rs543817 0.98376
NM_000975.4(RPL11):c.-37C>G rs10917413 0.98344
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_000037.4(ANK1):c.5096+16T>C rs508112 0.97818
NM_003126.4(SPTA1):c.126C>T (p.Val42=) rs435080 0.97180
NM_003126.4(SPTA1):c.24+3A>G rs2564858 0.97164
NM_000135.4(FANCA):c.1225+151T>C rs6500451 0.97075
NM_000135.4(FANCA):c.2316+67A>G rs7200990 0.97043
NM_022725.4(FANCF):c.*632G>A rs444923 0.97022
NM_022725.4(FANCF):c.*819C>T rs450946 0.96809
NC_000011.10:g.5227540G>A rs10742584 0.96393
NM_001113378.2(FANCI):c.2547= (p.Lys849=) rs7183618 0.95848
NM_003126.4(SPTA1):c.813-7A>T rs325995 0.95672
NM_003126.4(SPTA1):c.942T>A (p.Ala314=) rs325996 0.95473
NM_001321759.2(CDIN1):c.273+82C>T rs10220785 0.95448
NM_001321759.2(CDIN1):c.274-82T>A rs6495863 0.95445
NM_001321759.2(CDIN1):c.148-19G>T rs11073191 0.95366
NM_001081.4(CUBN):c.593+33dup rs11409967 0.95095
NM_000373.4(UMPS):c.*4138T>G rs593292 0.93851
NM_001081.4(CUBN):c.594-34G>A rs2295813 0.91875
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_006363.6(SEC23B):c.834+40T>C rs911115 0.91369
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_000617.3(SLC11A2):c.35-498A>C rs445520 0.90819
NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu) rs334773 0.90803
NM_182916.3(TRNT1):c.148+38A>G rs334772 0.90454
NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr) rs6500495 0.89953
NM_001142864.4(PIEZO1):c.3699+33T>C rs4516218 0.89952
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=) rs6500491 0.89832
NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=) rs4782430 0.89391
NM_017875.4(SLC25A38):c.456+36G>A rs1995236 0.88218
NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=) rs2290902 0.87977
NM_001142864.4(PIEZO1):c.4956-3T>C rs9935872 0.87681
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) rs4760682 0.86945
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) rs701753 0.86852
NM_001081.4(CUBN):c.2791+130G>A rs4747297 0.86168
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) rs7184427 0.85861
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001142864.4(PIEZO1):c.161-32G>A rs7201439 0.85011
NM_006363.5(SEC23B):c.-232C>G rs4813333 0.83645
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83410
NC_000011.10:g.5227411G>A rs10742583 0.83082
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_025215.6(PUS1):c.303+89G>T rs10902480 0.82359
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_000791.4(DHFR):c.-473T>C rs1650697 0.80068
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001321759.2(CDIN1):c.477-55G>A rs2381887 0.78569
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76044
NM_004629.2(FANCG):c.511-45A>G rs554098 0.75732
NM_000037.4(ANK1):c.5479-3T>C rs515071 0.75703
NM_000988.5(RPL27):c.362+17A>C rs11871636 0.75428
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.75316
NM_001081.4(CUBN):c.8905+137T>A rs780847 0.75177
NM_021922.3(FANCE):c.249-35A>G rs7757405 0.74257
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_182916.3(TRNT1):c.948A>G (p.Ala316=) rs1705805 0.73295
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_181697.3(PRDX1):c.107-33A>G rs2356559 0.73044
NM_018124.4(RFWD3):c.269C>A (p.Thr90Asn) rs8058922 0.72932
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_001002010.5(NT5C3A):c.378T>C (p.Tyr126=) rs3750117 0.71939
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu) rs6500493 0.70789
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_022725.4(FANCF):c.*207C>T rs4447177 0.70234
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_032043.3(BRIP1):c.*3514T>G rs10744996 0.68796
NM_001374504.1(TMPRSS6):c.836+23A>G rs2235326 0.68194
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_006363.6(SEC23B):c.1665+48C>T rs2295557 0.66701
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_001014.5(RPS10):c.-37C>T rs9469779 0.65560
NM_000355.3(TCN2):c.-181A>G rs2240433 0.64970
NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) rs855791 0.64686
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) rs8057031 0.63867
NM_000342.4(SLC4A1):c.*1568G>A rs5033 0.63671
NM_206965.2(FTCD):c.*108G>A rs12774 0.63657
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_001360016.2(G6PD):c.1365-13C>T rs2071429 0.63462
NM_001018113.3(FANCB):c.-173G>C rs2188383 0.63320
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_000355.4(TCN2):c.754-31T>C rs2267163 0.63034
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_000037.4(ANK1):c.229-47G>A rs1872877 0.61566
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_032043.3(BRIP1):c.*483C>T rs7213430 0.61289
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931 0.60775
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_015077.4(SARM1):c.1924-1029G>A rs1128161 0.59678
NM_015077.4(SARM1):c.1924-1133C>A rs1128162 0.59676
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
NM_015077.4(SARM1):c.1924-279G>A rs8079943 0.59408
NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) rs4820268 0.59140
NM_001374504.1(TMPRSS6):c.1441+46C>T rs2072860 0.59102
NM_015077.4(SARM1):c.1924-196C>T rs8081240 0.59034
NM_000969.5(RPL5):c.794+121G>A rs10874744 0.58918
NM_018124.4(RFWD3):c.1212G>A (p.Thr404=) rs4888262 0.58882
NM_015077.4(SARM1):c.*1963G>A 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
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_001321759.2(CDIN1):c.476+33T>C rs3743338 0.55611
NM_004629.2(FANCG):c.84+77C>A rs504082 0.54871
NM_000373.3(UMPS):c.-28A>G rs1139538 0.54345
NM_000373.3(UMPS):c.-110A>G rs2279198 0.54337
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001113525.2(ZNF276):c.*1693A>T rs7195906 0.53795
NM_182916.3(TRNT1):c.1056+11A>G rs1669348 0.53660
NM_000135.4(FANCA):c.1226-80T>C rs6500450 0.53395
NM_000135.4(FANCA):c.1084-49G>C rs1800287 0.53385
NM_015077.4(SARM1):c.*2442T>C rs2239907 0.53216
NM_001355436.2(SPTB):c.4002+26T>C rs229634 0.53044
NM_000617.3(SLC11A2):c.*1876T>C rs149411 0.53019
NM_000135.4(FANCA):c.596+74G>A rs1800285 0.52593
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_001365304.2(LOC112694756):c.*489-63G>C rs9783783 0.52268
NM_003126.4(SPTA1):c.*295C>T rs12601 0.52219
NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=) rs2251969 0.52153
NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr) rs952094 0.52034
NM_015077.4(SARM1):c.*308G>T rs2239911 0.51926
NM_000135.4(FANCA):c.2222+107T>C rs886951 0.51679
NM_000373.4(UMPS):c.*726C>T rs649652 0.51631
NM_033022.4(RPS24):c.3+26C>T rs3740253 0.51439
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_000135.4(FANCA):c.2222+100A>G rs886950 0.51061
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_000135.4(FANCA):c.1471-119A>T rs12448860 0.50554
NM_000135.4(FANCA):c.1715+82T>C rs1800335 0.50497
NM_003126.4(SPTA1):c.264+46T>C rs857937 0.50357
NM_000135.4(FANCA):c.1826+99T>A rs7187436 0.50149
NM_003126.4(SPTA1):c.813-45A>G rs703122 0.49749
NM_003126.4(SPTA1):c.915T>C (p.Ser305=) rs703121 0.49738
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_001113525.2(ZNF276):c.1574+23del rs17233826 0.48664
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_002693.3(POLG):c.3643+257T>G rs1061316 0.48343
NM_001018115.3(FANCD2):c.1414-23T>C rs10222446 0.48329
NM_001321759.2(CDIN1):c.-105C>T rs3743337 0.48044
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_014176.4(UBE2T):c.15A>G (p.Ser5=) rs14451 0.47315
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000617.3(SLC11A2):c.34+11G>A rs427020 0.46181
NM_000135.4(FANCA):c.1471-73G>A rs2239360 0.45821
NM_000135.4(FANCA):c.596+143T>G rs11076627 0.45367
NM_000136.3(FANCC):c.*1288T>C rs4647554 0.45294
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_000373.3(UMPS):c.-67T>C rs2279199 0.44281
NM_000518.5(HBB):c.315+74T>G rs7480526 0.44189
NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val) rs3784678 0.43599
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_000375.3(UROS):c.561+19C>T rs2281954 0.43234
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_000375.3(UROS):c.562-26C>T rs3740179 0.43206
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_032043.3(BRIP1):c.-205G>A rs2048718 0.42481
NM_000254.3(MTR):c.2474-18T>A rs10925256 0.42308
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000375.3(UROS):c.-219C>A rs4385801 0.41780
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_000135.4(FANCA):c.1226-20A>G rs1800330 0.41702
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_138477.4(CDAN1):c.*142A>G rs3742987 0.41378
NM_000637.5(GSR):c.696-10C>T rs8190996 0.41377
NM_000375.3(UROS):c.-185G>A rs4256900 0.41165
NM_000135.4(FANCA):c.3240-42G>A rs1800345 0.40844
NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) rs857691 0.40606
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_000186.4(CFH):c.59-36C>T rs551397 0.40527
NM_001113525.2(ZNF276):c.*1323G>A rs1061646 0.40513
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg) rs12917189 0.40225
NM_001374504.1(TMPRSS6):c.2190C>T (p.Tyr730=) rs2235321 0.40210
NM_006947.4(SRP72):c.826-23A>G rs7700034 0.40194
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770 0.39870
NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) rs2235324 0.39823
NM_138477.4(CDAN1):c.*214T>C rs3742988 0.39766
NM_000135.4(FANCA):c.1084-29A>G rs6500452 0.39672
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly) rs13333358 0.38670
NM_000037.4(ANK1):c.909+36A>G rs7826127 0.38387
NM_032043.3(BRIP1):c.*2090G>C rs60657820 0.38290
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_032043.3(BRIP1):c.*2082_*2085del rs10601136 0.37829
NM_000136.3(FANCC):c.521+109A>G rs3737142 0.37815
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_001113378.2(FANCI):c.545+30G>A rs1981624 0.37206
NM_001374504.1(TMPRSS6):c.-1-241G>A rs5756516 0.37000
NM_000136.3(FANCC):c.*1871G>A rs4647558 0.36840
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_001355436.2(SPTB):c.648-49G>A rs230704 0.36676
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
NM_005236.3(ERCC4):c.1905-35T>C rs1799799 0.36580
G6PD:c.1455-13T>C rs2071429 0.36538
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_000342.4(SLC4A1):c.*333C>A rs2072081 0.36187
NM_006563.5(KLF1):c.304T>C (p.Ser102Pro) rs2072597 0.36000
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_006947.4(SRP72):c.*780C>T rs10518 0.35479
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_001018115.3(FANCD2):c.4281+172G>A rs7626117 0.35108
NM_020897.3(HCN3):c.*1069C>T rs8847 0.35054
NM_000298.6(PKLR):c.*267C>T rs932972 0.35051
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176 0.35034
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_001374504.1(TMPRSS6):c.1056G>A (p.Ser352=) rs2111833 0.34630
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001355436.2(SPTB):c.4474-42C>T rs1741486 0.34516
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_003126.4(SPTA1):c.5292C>A (p.Ala1764=) rs3738791 0.34201
NM_003126.4(SPTA1):c.4195-12G>A rs6702040 0.34186
NM_001374504.1(TMPRSS6):c.-1-234T>C rs5756515 0.34174
NM_138477.4(CDAN1):c.2352+8C>T rs12594483 0.34139
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_003126.4(SPTA1):c.5958C>T (p.Pro1986=) rs3753068 0.33588
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
NM_032043.3(BRIP1):c.*3488A>T rs11079454 0.33474
NM_000096.4(CP):c.2662-12T>C rs16861582 0.33387
NM_006947.4(SRP72):c.610+35C>T rs11610 0.33008
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_003126.4(SPTA1):c.1350+14A>T rs703116 0.31859
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_000096.4(CP):c.2286-15del rs143522213 0.30978
NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=) rs2911442 0.30977
NM_006363.6(SEC23B):c.834+41G>A rs1555353 0.30830
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_001018115.3(FANCD2):c.4281+685C>T rs11716842 0.30572
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077 0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_058216.3(RAD51C):c.904+34T>C rs28363318 0.30375
NM_000289.5(PFKM):c.-112T>G rs12306290 0.29895
NM_030943.4(AMN):c.1170-37C>G rs148815688 0.29891
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000289.6(PFKM):c.428-39G>A rs2269933 0.29774
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_001142864.4(PIEZO1):c.2329+19G>A rs2306050 0.28823
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_017875.4(SLC25A38):c.626-36G>C rs870843 0.27843
NM_018124.4(RFWD3):c.1755-33G>A rs11149759 0.27669
NM_000059.4(BRCA2):c.*369A>G rs7334543 0.27664
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_001031.5(RPS28):c.*16+23T>C rs4147644 0.27055
NM_206965.2(FTCD):c.54+12G>A rs2277820 0.27049
NM_000355.4(TCN2):c.*444C>T rs10418 0.26603
NM_001063.4(TF):c.1572G>C (p.Leu524=) rs8649 0.26591
NM_017875.4(SLC25A38):c.*310A>T rs12991 0.26507
NM_003126.4(SPTA1):c.3570-37T>A rs11265044 0.26469
NM_138477.4(CDAN1):c.477C>T (p.Pro159=) rs7167392 0.26335
NM_000373.4(UMPS):c.*1211C>A rs11706118 0.26274
NM_001063.4(TF):c.624G>A (p.Ser208=) rs12769 0.26134
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000253.3(MTTP):c.-241G>A rs11944752 0.26041
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys) rs8023524 0.25780
NM_001021.6(RPS17):c.159T>C (p.Tyr53=) rs6991 0.25775
NM_001018115.3(FANCD2):c.3849+13A>G rs9811771 0.25616
NM_003126.4(SPTA1):c.*167A>G rs3768535 0.25502
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_001355436.2(SPTB):c.300+23C>T rs1353857 0.25252
NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val) rs1803382 0.25214
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_000373.4(UMPS):c.*1711T>G rs10934684 0.24960
NM_001018115.3(FANCD2):c.4281+197A>G rs7647987 0.24912
NM_001018115.3(FANCD2):c.4281+566T>G rs3826 0.24892
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=) rs2272125 0.24889
NM_001018115.3(FANCD2):c.4185+33T>C rs2272124 0.24884
NM_000373.4(UMPS):c.*4278G>A rs11927687 0.24793
NM_000373.4(UMPS):c.*3589C>T rs10934685 0.24694
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_138477.4(CDAN1):c.2408-3C>T rs12905385 0.24113
NM_006996.3(SLC19A2):c.*967A>G rs16862199 0.24080
NM_003126.4(SPTA1):c.2493T>G (p.Leu831=) rs2518493 0.24070
NM_032043.3(BRIP1):c.-31+12G>A rs4988340 0.23980
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871 0.23757
NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln) rs857725 0.23548
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_001018115.3(FANCD2):c.2976+36T>C rs6805869 0.23353
NM_006516.4(SLC2A1):c.-197A>C rs11537640 0.23186
NM_006516.2(SLC2A1):c.-390delA rs28365848 0.23160
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_005236.3(ERCC4):c.1905-28G>A rs1799800 0.22729
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_001142864.4(PIEZO1):c.4775+31G>T rs3816618 0.22643
NM_001018115.3(FANCD2):c.990-38C>G rs9809061 0.22591
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu) rs11645197 0.22515
NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser) rs35159887 0.22508
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_012062.5(DNM1L):c.*1093T>C rs1971910 0.22300
NM_001142864.4(PIEZO1):c.465+8C>T rs2242164 0.22253
NM_003126.4(SPTA1):c.3570-12C>T rs2246434 0.22246
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
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_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
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_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_001142864.4(PIEZO1):c.635-8C>T rs11076706 0.20777
NG_000007.3(HBG2):g.42677C>T rs7482144 0.20740
NM_001142864.4(PIEZO1):c.466-39C>T rs7185630 0.20717
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_001142864.4(PIEZO1):c.3796+22G>A rs2247261 0.20320
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_198253.3(TERT):c.*99C>T rs2853690 0.20149
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_001018115.3(FANCD2):c.2270-28G>T rs34608006 0.19876
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_001142864.4(PIEZO1):c.1997+32C>T rs3214056 0.19512
NM_006947.4(SRP72):c.*173T>C rs10051 0.19449
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580 0.19378
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_006947.4(SRP72):c.*732A>G rs14211 0.19317
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_000289.6(PFKM):c.639-85T>C rs2286020 0.19143
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_000059.4(BRCA2):c.*532A>G rs11571836 0.18537
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) rs7816734 0.18067
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
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_004629.2(FANCG):c.646+58C>T rs17885726 0.17456
NM_000373.4(UMPS):c.*2614G>A rs4677940 0.17342
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_020207.7(ERCC6L2):c.1742T>C (p.Val581Ala) rs2274654 0.17275
NM_001374504.1(TMPRSS6):c.72G>A (p.Pro24=) rs11704654 0.17025
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997 0.16789
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_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_002454.2(MTRR):c.-119T>C rs72716536 0.16355
NM_000289.6(PFKM):c.-8-86G>T rs2269935 0.16268
NM_000617.3(SLC11A2):c.*390G>A rs224446 0.16154
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000059.4(BRCA2):c.-52A>G rs206118 0.15771
NM_000355.4(TCN2):c.753+45_753+46del rs139588634 0.15769
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_012062.5(DNM1L):c.*271C>G rs1020670 0.15598
NM_012062.5(DNM1L):c.*1213G>T rs11052213 0.15596
NM_012062.5(DNM1L):c.*744A>T rs1971911 0.15585
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_000253.3(MTTP):c.-252G>C rs11944749 0.15525
NM_000059.4(BRCA2):c.*105A>C rs15869 0.15131
NM_000254.3(MTR):c.3712-8T>C rs12022937 0.15072
NM_000559.3(HBG1):c.-29G>A rs368698783 0.15026
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_000186.4(CFH):c.2016A>G (p.Gln672=) rs3753396 0.14639
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_018062.4(FANCL):c.375-49C>G rs1404459 0.14499
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_001042351.2(G6PD):c.-111A>G rs111827785 0.14433
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_012062.5(DNM1L):c.*1242G>A rs10844336 0.14342
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
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_006516.2(SLC2A1):c.-490G>C rs3754226 0.14227
NM_000355.3(TCN2):c.-250C>T rs5753231 0.14215
NM_000617.3(SLC11A2):c.607+12G>A rs224454 0.14139
NM_001365304.2(LOC112694756):c.*1508+17G>T rs2071390 0.13976
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.4970-22A>C rs74668791 0.13460
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_000096.4(CP):c.1632= (p.Glu544=) rs701753 0.13148
NM_006947.4(SRP72):c.*1603A>G rs1142851 0.13141
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_017875.4(SLC25A38):c.*588T>A rs6890 0.12968
NM_001011.4(RPS7):c.508-12C>A rs2071639 0.12923
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049 0.12714
NM_015077.4(SARM1):c.*517C>T rs739439 0.12712
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_025215.6(PUS1):c.-182C>T rs61942438 0.12527
NM_000355.4(TCN2):c.*225A>T rs2072195 0.12516
NM_004629.1(FANCG):c.-453_-452insT rs16935545 0.12501
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_000355.4(TCN2):c.941-21G>A rs2283873 0.12200
NM_000135.4(FANCA):c.1006+112G>A rs17226075 0.11964
NM_000135.4(FANCA):c.1083+120G>A rs17226159 0.11919
NM_000135.4(FANCA):c.2602-36G>T rs2159116 0.11784
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_001018115.3(FANCD2):c.1413+38A>C rs7615646 0.10867
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_000037.4(ANK1):c.597G>A (p.Pro199=) rs2304873 0.10581
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_000518.5(HBB):c.315+81C>T rs7946748 0.10445
NM_001063.4(TF):c.739C>T (p.Leu247=) rs1799852 0.10437
NM_000518.4(HBB):c.*233G>C rs12788013 0.10429
NM_001360016.2(G6PD):c.121-135A>G rs762515 0.10367
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_003126.4(SPTA1):c.*276T>C rs12128275 0.10237
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09973
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200 0.09809
NM_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
NM_001360016.2(G6PD):c.864+163C>T rs5986990 0.09646
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965 0.09606
NM_003126.4(SPTA1):c.2757A>G (p.Glu919=) rs16840450 0.09495
NM_003126.4(SPTA1):c.2558C>G (p.Thr853Arg) rs35121052 0.09487
NM_032444.4(SLX4):c.-359C>G rs57910835 0.09336
NM_182916.3(TRNT1):c.68= (p.Pro23=) rs334773 0.09197
NM_003126.4(SPTA1):c.2425A>G (p.Ile809Val) rs7547313 0.09176
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_001014.4(RPS10):c.-58C>T rs78454682 0.09137
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_000373.4(UMPS):c.*56del rs3836305 0.09036
NM_021922.3(FANCE):c.*216del rs45584740 0.08934
NM_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) rs881144 0.08889
NM_001018115.3(FANCD2):c.4281+673G>A rs9862958 0.08846
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772 0.08766
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val) rs1340989 0.08733
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_000365.6(TPI1):c.*420T>C rs58194764 0.08694
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000096.4(CP):c.394+20C>T rs17847023 0.08668
NM_032444.4(SLX4):c.1366+11T>C rs76350200 0.08654
NM_000186.4(CFH):c.*178T>A rs488738 0.08528
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_032444.4(SLX4):c.*8A>G rs3751839 0.08334
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08317
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001386140.1(MTTP):c.*183C>T rs74542928 0.08278
NM_001386140.1(MTTP):c.*862C>A rs6832927 0.08274
NM_003126.4(SPTA1):c.2102G>A (p.Arg701His) rs12090314 0.08273
NM_001386140.1(MTTP):c.*506A>G rs6832119 0.08272
NM_001849.4(COL6A2):c.*116T>C rs3087667 0.08255
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262 0.08189
NM_006947.4(SRP72):c.*442A>G rs7762 0.08062
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08059
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950 0.08024
NM_012062.5(DNM1L):c.*600C>T rs3600 0.08008
NM_001063.3(TF):c.-84G>T rs8177186 0.07960
NM_032444.4(SLX4):c.-295A>G rs59311338 0.07951
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr) rs59939128 0.07918
NM_004629.1(FANCG):c.-490G>T rs10972303 0.07883
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_000637.5(GSR):c.261T>C (p.Gly87=) rs2280855 0.07666
NM_006947.4(SRP72):c.*386G>A rs4260596 0.07511
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_206965.2(FTCD):c.417G>A (p.Pro139=) rs61729391 0.07442
NM_000373.4(UMPS):c.*1319G>A rs821375 0.07438
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_000373.4(UMPS):c.*4430C>T rs591963 0.07331
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
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_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_001849.4(COL6A2):c.*158C>T rs11554666 0.06989
NM_005050.4(ABCD4):c.1560-12A>C rs74061802 0.06985
NM_005050.4(ABCD4):c.668+7C>T rs61757464 0.06982
NM_005050.4(ABCD4):c.1636+10C>T rs74061801 0.06981
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_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534 0.06974
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976 0.06972
NM_005050.4(ABCD4):c.815-13G>C rs74063815 0.06964
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000 0.06963
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val) rs61735841 0.06786
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_018062.4(FANCL):c.217-11T>C rs79588315 0.06493
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=) rs28661826 0.06415
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_032444.4(SLX4):c.2013+23G>A rs112226642 0.06373
NM_004629.2(FANCG):c.-392A>G rs10972302 0.06369
NM_032444.4(SLX4):c.2160+50C>T rs75762935 0.06369
NM_000135.4(FANCA):c.2222+73A>G rs1800341 0.06356
NM_006947.4(SRP72):c.*1313C>G rs113719942 0.06349
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.427+52G>A rs41291961 0.06210
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000032.5(ALAS2):c.*56A>C rs6612250 0.06184
NM_138477.4(CDAN1):c.816C>A (p.Thr272=) rs76599133 0.06184
NM_000342.4(SLC4A1):c.*1103del rs111655803 0.06180
NM_000289.6(PFKM):c.1880+32G>C rs4075914 0.06152
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val) rs73410959 0.06134
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_138477.4(CDAN1):c.558C>G (p.Pro186=) rs12594325 0.05980
NM_032043.3(BRIP1):c.*2241T>C rs76889595 0.05966
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_006996.3(SLC19A2):c.*1814G>A rs12091844 0.05951
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.1777-29T>C rs2302162 0.05904
NM_138477.4(CDAN1):c.*463_*465del rs111961345 0.05900
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_001063.4(TF):c.804T>C (p.His268=) rs8177232 0.05865
NM_000135.4(FANCA):c.3408+45G>A rs1800355 0.05862
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.3067-23G>A rs17227057 0.05859
NM_000135.4(FANCA):c.3765+37G>A rs34420680 0.05858
NM_000135.4(FANCA):c.2602-46T>A rs11076620 0.05847
NM_005142.3(CBLIF):c.246C>T (p.Ser82=) rs35792306 0.05846
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_021922.3(FANCE):c.*151A>G rs16876572 0.05645
NM_004629.1(FANCG):c.-504A>T rs17885140 0.05593
NM_003126.4(SPTA1):c.6046C>T (p.Arg2016Cys) rs78394850 0.05585
NM_000135.4(FANCA):c.3513+62C>T rs34019730 0.05570
NM_006563.5(KLF1):c.*277C>T rs16978757 0.05559
NM_003126.4(SPTA1):c.5992G>C (p.Ala1998Pro) rs77877855 0.05556
NM_006563.5(KLF1):c.*296G>A rs16978754 0.05553
NM_003126.4(SPTA1):c.6112C>T (p.Leu2038=) rs75931146 0.05545
NM_003126.4(SPTA1):c.5507A>G (p.Asn1836Ser) rs16830483 0.05541
NM_206965.2(FTCD):c.301G>A (p.Val101Met) rs61735836 0.05528
NM_001849.4(COL6A2):c.*61G>A rs1043801 0.05523
NM_000254.3(MTR):c.340-6C>T rs7526063 0.05512
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_006947.4(SRP72):c.*606A>T rs868279024 0.05397
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000342.4(SLC4A1):c.*349G>A rs1465204 0.05293
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) rs5017 0.05230
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_001011.4(RPS7):c.-47G>T rs11558965 0.05197
NM_000096.4(CP):c.782-14C>T rs34067682 0.05131
NM_000135.4(FANCA):c.427-25T>A rs9282685 0.05123
NM_001114134.2(EPB42):c.833-4A>G rs61343376 0.05117
NM_001114134.2(EPB42):c.-51T>C rs16957499 0.05107
NM_000617.3(SLC11A2):c.*1215A>C rs17125172 0.05066
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_001081.4(CUBN):c.2792-18T>A rs10904871 0.05019
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_024675.4(PALB2):c.-47G>A rs8053188 0.04991
NM_032444.4(SLX4):c.*113C>T rs76661336 0.04982
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_032444.4(SLX4):c.*1004A>G rs75773027 0.04949
NM_032444.4(SLX4):c.*721T>C rs75146816 0.04948
NM_005431.2(XRCC2):c.563G>A (p.Arg188His) rs3218536 0.04933
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val) rs78637028 0.04932
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_001142446.2(ANK1):c.127-39509T>C rs77173848 0.04675
NM_000037.4(ANK1):c.*1609C>G rs78203311 0.04627
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04617
NM_000037.4(ANK1):c.*1899G>A rs72638943 0.04611
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899 0.04529
NM_006563.5(KLF1):c.544T>C (p.Phe182Leu) rs2072596 0.04509
NM_001113525.2(ZNF276):c.1574+17del rs375657470 0.04486
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971 0.04455
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_000342.4(SLC4A1):c.*270G>A rs5027 0.04383
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_001113525.2(ZNF276):c.1475-191C>T rs16966023 0.04351
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) rs2287780 0.04230
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
NM_000037.4(ANK1):c.612+18G>C rs57815524 0.04206
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) rs35964634 0.04182
NM_001113378.2(FANCI):c.2547A>G (p.Lys849=) rs7183618 0.04152
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) rs10093583 0.04068
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_000637.5(GSR):c.189C>T (p.Ala63=) rs2280854 0.03974
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001114134.2(EPB42):c.330G>A (p.Ala110=) rs1042168 0.03903
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_033022.3(RPS24):c.-109A>G rs3740254 0.03888
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_022725.4(FANCF):c.*1629C>T rs10500938 0.03856
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_032043.3(BRIP1):c.*1374T>C rs59115933 0.03738
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603 0.03712
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
NM_182916.3(TRNT1):c.444G>T (p.Ala148=) rs41399044 0.03661
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_032043.3(BRIP1):c.*4000T>C rs8077553 0.03559
NM_015077.4(SARM1):c.*104C>T rs73273104 0.03547
NM_206965.2(FTCD):c.1050C>G (p.Arg350=) rs138803850 0.03521
NM_003126.4(SPTA1):c.454G>A (p.Asp152Asn) rs16840544 0.03495
NM_003126.4(SPTA1):c.867T>C (p.Ser289=) rs12083637 0.03494
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_000136.3(FANCC):c.*116A>C rs7048910 0.03439
NM_001113525.2(ZNF276):c.1574+23T>C rs62704561 0.03426
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_001018115.3(FANCD2):c.4281+270A>G rs17032386 0.03356
NM_001018115.3(FANCD2):c.2269+37A>G rs34323624 0.03335
NM_182916.3(TRNT1):c.133C>T (p.Leu45=) rs75033443 0.03301
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917 0.03300
NM_001113378.2(FANCI):c.1294-8C>T rs16942931 0.03299
NM_001113525.2(ZNF276):c.*103C>G rs17233797 0.03296
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969 0.03295
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) rs34706737 0.03142
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226 0.03114
NM_001018115.3(FANCD2):c.571-31G>A rs35749514 0.03113
NM_032043.3(BRIP1):c.94-18T>G rs2138005 0.03086
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015 0.03061
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_000037.4(ANK1):c.5395-1147C>G rs112350393 0.03054
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_001002010.5(NT5C3A):c.139-9046T>C rs17170223 0.03046
NM_002454.3(MTRR):c.1676+20A>G rs2303082 0.03042
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014 0.03012
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=) rs6785756 0.03005
NM_000135.4(FANCA):c.1360-7C>T rs17232616 0.03003
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026 0.02980
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_005334.3(HCFC1):c.1605+20G>T rs1002679 0.02967
NM_000637.5(GSR):c.457C>T (p.Arg153Cys) rs8190955 0.02941
NM_001113525.2(ZNF276):c.1815G>C (p.Glu605Asp) rs17227424 0.02929
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_001376013.1(EPB41):c.640G>A (p.Val214Ile) rs111642750 0.02894
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_000136.3(FANCC):c.*2552T>C rs9673 0.02750
NM_000373.4(UMPS):c.*3537G>A rs606369 0.02705
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035 0.02695
NM_000373.4(UMPS):c.*4486G>A rs591886 0.02695
NM_000373.4(UMPS):c.*4485G>T rs591896 0.02694
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_000791.4(DHFR):c.-400A>G rs2405875 0.02618
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) rs35867471 0.02593
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237 0.02538
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001 0.02514
NM_000373.4(UMPS):c.*4906G>C rs702039 0.02508
NM_000476.3(AK1):c.367G>C (p.Glu123Gln) rs8192462 0.02507
NM_001374504.1(TMPRSS6):c.-1-107C>T rs115270691 0.02489
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_001018113.3(FANCB):c.*14T>C rs2375726 0.02466
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) rs61140046 0.02445
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_174936.4(PCSK9):c.*537del rs72646535 0.02413
NM_001021.6(RPS17):c.312A>G (p.Glu104=) rs1049218128 0.02409
NM_000186.3(CFH):c.-79A>G rs35906110 0.02400
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_001386140.1(MTTP):c.*113G>C rs112407688 0.02360
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02354
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679 0.02349
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_138477.4(CDAN1):c.2174+20G>A rs75993383 0.02307
NM_003126.4(SPTA1):c.958-10C>A rs12085628 0.02300
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) rs17086879 0.02284
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_001113525.2(ZNF276):c.*68C>T rs17227417 0.02259
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_001014.5(RPS10):c.401-18C>T rs41269040 0.02247
NM_001374504.1(TMPRSS6):c.*86C>T rs116795891 0.02246
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02245
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_006947.4(SRP72):c.*139G>A rs28438730 0.02206
NM_000342.4(SLC4A1):c.*1721G>A rs62078947 0.02193
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036 0.02192
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033 0.02173
NM_001002010.5(NT5C3A):c.408T>C (p.Thr136=) rs72555744 0.02171
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
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_138477.4(CDAN1):c.1969G>A (p.Gly657Ser) rs61747153 0.02138
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_138477.4(CDAN1):c.2948-13C>T rs117946783 0.02118
NM_000037.4(ANK1):c.*2022G>A rs112447985 0.02108
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_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
NM_000637.5(GSR):c.334-4dup rs112134304 0.02050
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys) rs61737525 0.02034
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) rs61739582 0.02033
NM_000518.5(HBB):c.316-373C>A rs78815705 0.02031
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_006563.5(KLF1):c.115A>C (p.Met39Leu) rs112631212 0.02025
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_015077.4(SARM1):c.1924-34A>G rs117451747 0.02019
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_000342.4(SLC4A1):c.*897G>A rs5030 0.02004
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_000289.6(PFKM):c.237+73G>T rs78042191 0.01997
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895 0.01981
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000037.4(ANK1):c.3327+21C>G rs61207451 0.01947
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993 0.01896
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
NM_000135.4(FANCA):c.3408+33T>C rs17227191 0.01875
NM_000186.4(CFH):c.*98C>T rs35742764 0.01872
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_000254.3(MTR):c.940G>A (p.Asp314Asn) rs2229274 0.01853
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_001113525.2(ZNF276):c.1574+26C>A rs17233812 0.01850
NM_032444.4(SLX4):c.*807G>A rs115690937 0.01845
NM_032444.4(SLX4):c.*655G>A rs116003727 0.01840
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_001374504.1(TMPRSS6):c.2319C>T (p.Ser773=) rs73886915 0.01805
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_000136.3(FANCC):c.*2085C>A rs4647559 0.01780
NM_000355.4(TCN2):c.*382C>T rs56076607 0.01762
NM_022725.4(FANCF):c.*319A>G rs12294705 0.01761
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_000637.5(GSR):c.43A>G (p.Ser15Gly) rs144194626 0.01737
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) rs35856400 0.01721
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013 0.01720
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_032444.4(SLX4):c.*984C>T rs57699393 0.01715
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_001374504.1(TMPRSS6):c.579A>C (p.Leu193=) rs79013645 0.01709
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_000476.3(AK1):c.517-18C>T rs7031929 0.01694
NM_001002010.5(NT5C3A):c.440+9A>G rs72555745 0.01691
NM_017875.4(SLC25A38):c.*472G>T rs141567816 0.01690
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798 0.01679
NM_006516.4(SLC2A1):c.-190G>C rs114514007 0.01675
NM_000476.3(AK1):c.186G>A (p.Glu62=) rs61742069 0.01671
NM_001113525.2(ZNF276):c.1475-216G>A rs17227452 0.01670
NM_025215.6(PUS1):c.*16C>T rs116003934 0.01667
NM_000373.4(UMPS):c.*3414A>G rs115977637 0.01658
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) rs61736326 0.01657
NM_001113378.2(FANCI):c.868G>A (p.Val290Met) rs113772230 0.01634
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) rs6612251 0.01631
NM_001113525.2(ZNF276):c.1574+17A>C rs17233833 0.01627
NM_000342.4(SLC4A1):c.*408C>T rs45555735 0.01626
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 0.01614
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_000619.3(IFNG):c.*180C>T rs2069722 0.01606
NM_000518.4(HBB):c.*182G>A rs113969885 0.01596
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_001002010.5(NT5C3A):c.91T>C (p.Phe31Leu) rs72555707 0.01571
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_012062.5(DNM1L):c.*1415T>C rs114366772 0.01556
NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=) rs115481622 0.01551
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_002454.3(MTRR):c.1370+19G>A rs113005255 0.01540
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000136.3(FANCC):c.*359A>G rs4647551 0.01505
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_000059.4(BRCA2):c.*397C>A rs11571835 0.01470
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_032444.4(SLX4):c.-104A>G rs73505426 0.01460
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_000186.4(CFH):c.1428A>G (p.Gln476=) rs34399588 0.01440
NM_000175.5(GPI):c.623T>C (p.Ile208Thr) rs8191371 0.01437
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_005236.3(ERCC4):c.33C>T (p.Ala11=) rs3136042 0.01420
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_018062.4(FANCL):c.1077T>C (p.Cys359=) rs11539575 0.01385
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn) rs112596894 0.01345
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_017875.4(SLC25A38):c.-303A>C rs114422738 0.01335
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020 0.01332
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_017875.4(SLC25A38):c.-209A>G rs143903497 0.01332
NM_000037.4(ANK1):c.*1402G>T rs116137861 0.01314
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000355.4(TCN2):c.65-17C>T rs77763564 0.01306
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_001063.4(TF):c.1602C>T (p.Tyr534=) rs7845 0.01304
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_206965.2(FTCD):c.906+15C>T rs76474184 0.01274
NM_000373.4(UMPS):c.*4739G>T rs73858830 0.01271
NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=) rs35078963 0.01270
NM_000373.4(UMPS):c.*993A>T rs74704429 0.01265
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238 0.01260
NM_000619.3(IFNG):c.*539A>G rs2069723 0.01255
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_012062.5(DNM1L):c.*1156G>C rs148183516 0.01245
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_001374504.1(TMPRSS6):c.1441+10C>T rs79816125 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_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=) rs35375982 0.01227
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339 0.01219
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_000342.4(SLC4A1):c.*794del rs45515496 0.01217
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680 0.01208
NM_001374504.1(TMPRSS6):c.836C>T (p.Ser279Leu) rs5995378 0.01207
NM_006363.5(SEC23B):c.-57G>C rs113396443 0.01206
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_006363.6(SEC23B):c.-24C>T rs115614151 0.01204
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_000375.3(UROS):c.-31G>T rs73381212 0.01190
NM_001014.5(RPS10):c.-98T>C rs113071821 0.01181
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_000135.4(FANCA):c.1627-32T>C rs17226337 0.01179
NM_001014.4(RPS10):c.-43T>G rs111597547 0.01179
NM_001063.4(TF):c.1614C>T (p.Gly538=) rs8177286 0.01173
NM_006516.4(SLC2A1):c.19-207T>C rs41310434 0.01173
NM_017875.4(SLC25A38):c.-292G>A rs142441701 0.01159
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_000365.6(TPI1):c.*341C>T rs1804544 0.01157
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078 0.01154
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_138477.4(CDAN1):c.1968C>T (p.Thr656=) rs61742992 0.01147
NM_000373.4(UMPS):c.*28A>G rs3772810 0.01145
NM_000037.4(ANK1):c.2296-20C>T rs73619321 0.01143
NM_000373.4(UMPS):c.*983C>T rs11706036 0.01142
NM_138477.4(CDAN1):c.2445C>T (p.Gly815=) rs114208791 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_198253.3(TERT):c.*63C>T rs5031049 0.01135
NM_001374504.1(TMPRSS6):c.*546T>C rs142181201 0.01129
NM_000975.5(RPL11):c.*52A>G rs60606712 0.01119
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) rs3772809 0.01116
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_015077.4(SARM1):c.*2641C>T rs41297903 0.01106
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_001063.4(TF):c.582A>G (p.Pro194=) rs8177226 0.01102
NM_032043.3(BRIP1):c.*172G>C rs111898257 0.01099
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser) rs61753893 0.01090
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_001063.4(TF):c.1623-63del rs8177291 0.01085
NM_000135.4(FANCA):c.2504+161T>C rs17233050 0.01083
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=) rs35100558 0.01077
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
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_015077.4(SARM1):c.1924-565G>C rs117397871 0.01065
NM_005431.2(XRCC2):c.40-10C>T rs3218472 0.01055
NM_021922.3(FANCE):c.-56C>T rs4713866 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_001063.4(TF):c.432C>T (p.Ser144=) rs41298987 0.01050
NM_022725.4(FANCF):c.624G>T (p.Ala208=) rs7103674 0.01048
NM_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp) rs117576908 0.01035
NM_001113525.2(ZNF276):c.*1316C>T rs9282680 0.01028
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_006516.4(SLC2A1):c.973-17A>G rs111596088 0.01025
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg) rs114049933 0.01021
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_021023.6(CFHR3):c.720G>C (p.Gln240His) rs149347641 0.01005
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024 0.01001
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_032043.3(BRIP1):c.*1820C>T rs114037902 0.00997
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789 0.00995
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_000637.5(GSR):c.41C>A (p.Pro14Gln) rs192256606 0.00981
NM_000373.4(UMPS):c.*2901G>C rs144492816 0.00977
NM_000373.4(UMPS):c.*2884A>G rs139426908 0.00976
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_032444.4(SLX4):c.999C>T (p.Ile333=) rs7198338 0.00974
NM_001376013.1(EPB41):c.2314-19G>C rs41266199 0.00973
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721 0.00968
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=) rs35015310 0.00960
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=) rs55856815 0.00952
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_000355.4(TCN2):c.*300T>G rs187942607 0.00942
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_003126.4(SPTA1):c.6530+15A>T rs78561085 0.00935
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356 0.00932
NM_025215.6(PUS1):c.*208T>C rs148927836 0.00929
NM_032444.4(SLX4):c.*555C>T rs146163310 0.00927
NM_005142.3(CBLIF):c.990C>T (p.Asn330=) rs2867802 0.00921
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372 0.00921
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00919
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=) rs7142192 0.00916
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_022725.4(FANCF):c.*738T>G rs76674060 0.00915
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser) rs116519044 0.00914
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_000373.4(UMPS):c.*3732C>T rs111966656 0.00908
NM_000289.6(PFKM):c.*282C>T rs8977 0.00906
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_000136.3(FANCC):c.*96A>G rs55687573 0.00893
NM_001014.5(RPS10):c.1-18A>G rs115481077 0.00891
NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=) rs5014 0.00887
NM_001386140.1(MTTP):c.*515G>A rs116005476 0.00885
NM_006996.3(SLC19A2):c.*1421A>G rs74121673 0.00885
NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile) rs139105452 0.00876
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) rs79343837 0.00864
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_001002010.5(NT5C3A):c.139-4T>G rs72555736 0.00862
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_015077.4(SARM1):c.*1247C>G rs7225850 0.00854
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000254.3(MTR):c.2474-19T>A rs11809449 0.00849
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_022725.4(FANCF):c.*1484G>A rs181285048 0.00843
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00842
NM_022725.4(FANCF):c.96C>T (p.Arg32=) rs151253274 0.00838
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_005050.4(ABCD4):c.1028+6G>T rs115783644 0.00836
NM_005050.4(ABCD4):c.669-13T>G rs144451801 0.00836
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=) rs111894696 0.00835
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_000476.3(AK1):c.102C>T (p.Tyr34=) rs61741075 0.00832
NM_001374504.1(TMPRSS6):c.*580C>G rs145137288 0.00832
NM_001018113.3(FANCB):c.-229T>G rs149617434 0.00830
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421 0.00824
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) rs150313977 0.00815
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_022725.4(FANCF):c.*2123G>A rs45625034 0.00813
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752 0.00808
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_138477.4(CDAN1):c.-14G>A rs190314153 0.00804
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_001365304.2(LOC112694756):c.*889-16C>A rs78124282 0.00797
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871 0.00791
NM_000059.4(BRCA2):c.*295C>G rs11571834 0.00789
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00789
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_000373.4(UMPS):c.*3131G>A rs140750390 0.00779
NM_001374504.1(TMPRSS6):c.1800C>T (p.Asp600=) rs145814440 0.00779
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_000037.4(ANK1):c.*1708G>C rs182454354 0.00775
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836 0.00774
NM_000342.4(SLC4A1):c.*335G>A rs13306777 0.00773
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_006363.6(SEC23B):c.834+116A>G rs113825530 0.00772
NM_006363.6(SEC23B):c.1743+168A>G rs111951711 0.00771
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) rs769938205 0.00770
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000373.4(UMPS):c.*1349G>A rs138112683 0.00768
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) rs11825834 0.00763
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_018062.4(FANCL):c.*95A>G rs76348639 0.00754
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_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00736
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_000476.3(AK1):c.484G>A (p.Ala162Thr) rs35902264 0.00726
NM_000476.3(AK1):c.8-376C>T rs116301334 0.00725
NM_003126.4(SPTA1):c.3037-14T>C rs142102801 0.00723
NM_006363.6(SEC23B):c.*657A>G rs114937628 0.00723
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_001376013.1(EPB41):c.2019G>A (p.Lys673=) rs79677225 0.00718
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822 0.00711
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=) rs34446973 0.00709
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00706
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_032444.4(SLX4):c.1924+19C>A rs113075119 0.00694
NM_001386140.1(MTTP):c.*267A>C rs79992570 0.00692
NM_006947.4(SRP72):c.*972G>A rs189886380 0.00692
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00683
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=) rs73818109 0.00682
NM_000559.3(HBG1):c.410C>G (p.Ala137Gly) rs56205611 0.00681
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_006363.5(SEC23B):c.-52T>G rs191103191 0.00681
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260 0.00678
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758 0.00677
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_000355.3(TCN2):c.-244C>T rs143029449 0.00657
NM_000032.4(ALAS2):c.-258C>G rs140772352 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000617.3(SLC11A2):c.-78G>A rs2301528 0.00652
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_001376013.1(EPB41):c.24G>A (p.Val8=) rs75060926 0.00648
NM_000059.4(BRCA2):c.-175C>T rs55880202 0.00642
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_020897.3(HCN3):c.*1216A>C rs41264939 0.00637
NM_000037.4(ANK1):c.*774A>G rs142696529 0.00636
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_024675.3(PALB2):c.-158G>C rs138200248 0.00631
NM_001081.4(CUBN):c.5080+17T>C rs79034718 0.00630
NM_000032.5(ALAS2):c.824-15C>T rs727467 0.00627
NM_001063.3(TF):c.-65G>C rs41298275 0.00626
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_001040436.3(YARS2):c.1103+18T>C rs190343859 0.00622
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=) rs61745640 0.00622
NM_000254.3(MTR):c.3599-11G>A rs76731959 0.00621
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=) rs73020251 0.00621
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_001386140.1(MTTP):c.*588A>G rs184236038 0.00619
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_032043.3(BRIP1):c.*2538G>A rs150080122 0.00610
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000519.3(HBD):c.-60A>T rs112372029 0.00602
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
NM_206965.2(FTCD):c.919C>T (p.Leu307=) rs141103624 0.00600
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054 0.00599
NM_206965.2(FTCD):c.239-13C>T rs185291133 0.00599
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_001374504.1(TMPRSS6):c.522C>T (p.Val174=) rs116538331 0.00594
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_001374504.1(TMPRSS6):c.1441+12G>A rs78640241 0.00592
NM_032043.3(BRIP1):c.206-21T>C rs2048717 0.00589
NM_032043.3(BRIP1):c.*280G>C rs189935192 0.00585
NM_032043.3(BRIP1):c.*283del rs531656835 0.00584
NM_000969.5(RPL5):c.-55C>G rs116168890 0.00583
NM_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) rs115964827 0.00580
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_022725.4(FANCF):c.*1879T>C rs45553340 0.00575
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_032043.3(BRIP1):c.1141-94G>T rs114901675 0.00573
NM_032043.3(BRIP1):c.*616A>G rs116292412 0.00570
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_001081.4(CUBN):c.657G>A (p.Gly219=) rs142553474 0.00566
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_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_005050.4(ABCD4):c.543-14T>C rs79311122 0.00556
NM_032043.3(BRIP1):c.*3489T>C rs140891191 0.00554
NM_198253.3(TERT):c.*153C>T rs114012142 0.00547
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_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_015077.4(SARM1):c.*624C>T rs11871687 0.00541
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_017875.4(SLC25A38):c.*431G>A rs73058292 0.00540
NM_017875.4(SLC25A38):c.*809C>T rs71325527 0.00540
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_015077.4(SARM1):c.*1153T>C rs41297923 0.00539
NM_000617.3(SLC11A2):c.*1486G>T rs116731209 0.00538
NM_000617.3(SLC11A2):c.*789G>A rs79206015 0.00538
NM_001355436.2(SPTB):c.3764+9G>A rs150423485 0.00537
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_001374504.1(TMPRSS6):c.1636C>T (p.Pro546Ser) rs78174698 0.00531
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021 0.00529
NM_206965.2(FTCD):c.457-16G>A rs192895127 0.00528
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_001018113.3(FANCB):c.*66T>G rs143434225 0.00525
NM_006363.5(SEC23B):c.-186G>T rs138178711 0.00524
NM_138477.4(CDAN1):c.1368-15G>A rs74586882 0.00523
NM_006996.3(SLC19A2):c.-114C>T rs145285893 0.00519
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_032043.3(BRIP1):c.-197C>A rs180948389 0.00518
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_000037.4(ANK1):c.-204C>G rs117184692 0.00514
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_030943.4(AMN):c.324C>T (p.Asp108=) rs7140429 0.00514
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001374504.1(TMPRSS6):c.390C>T (p.Ser130=) rs147700428 0.00511
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882 0.00511
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_033022.4(RPS24):c.*99T>C rs146068394 0.00506
NM_030943.4(AMN):c.165G>A (p.Met55Ile) rs61731158 0.00505
NM_000365.6(TPI1):c.*39G>A rs12692 0.00504
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_015077.4(SARM1):c.*2127T>C rs41297909 0.00501
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_032444.4(SLX4):c.*1095G>A rs116498263 0.00499
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp) rs138888144 0.00496
NM_015077.4(SARM1):c.*1122A>G rs8082600 0.00495
NM_000375.3(UROS):c.*37G>T rs372132511 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000136.3(FANCC):c.*1895T>C rs56161090 0.00488
NM_138477.4(CDAN1):c.906G>A (p.Leu302=) rs61745955 0.00486
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_001374504.1(TMPRSS6):c.2074C>T (p.His692Tyr) rs200332661 0.00484
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_003126.4(SPTA1):c.5834-15G>A rs192889943 0.00480
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_032043.3(BRIP1):c.*729C>T rs137967725 0.00475
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903 0.00474
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800 0.00472
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_000096.4(CP):c.1349-13T>C rs17847017 0.00469
NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser) rs142874233 0.00467
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_032444.4(SLX4):c.*1022A>G rs78346491 0.00466
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_000476.3(AK1):c.44-16G>A rs74522986 0.00464
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys) rs28378332 0.00462
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_006657.3(FTCD):c.*15C>A rs114980528 0.00458
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) rs34462132 0.00456
NM_015077.4(SARM1):c.*2678T>A rs112801276 0.00456
NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys) rs61730251 0.00456
NM_000617.3(SLC11A2):c.625G>A (p.Ala209Thr) rs115874705 0.00453
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175 0.00453
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val) rs149125003 0.00450
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_022725.4(FANCF):c.883G>A (p.Val295Ile) rs7103293 0.00448
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu) rs115310908 0.00447
NM_058163.3(TSR2):c.234T>C (p.Asp78=) rs36032873 0.00445
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_006996.3(SLC19A2):c.-23G>C rs181612338 0.00441
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
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_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_000254.3(MTR):c.1437C>T (p.Asp479=) rs115424814 0.00432
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) rs146499374 0.00428
NM_000617.3(SLC11A2):c.*1058G>A rs41398049 0.00427
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_018368.4(LMBRD1):c.1509+20G>C rs116095397 0.00424
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344 0.00421
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) rs35733059 0.00420
NM_000186.4(CFH):c.-36G>C rs140356702 0.00418
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) rs140031135 0.00412
NM_000136.3(FANCC):c.-79+5G>A rs4647350 0.00411
NM_000375.3(UROS):c.63+8G>A rs17153575 0.00410
NM_003126.4(SPTA1):c.1600-10A>G rs148156245 0.00410
NM_000136.3(FANCC):c.*1968G>A rs114827984 0.00409
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_003126.4(SPTA1):c.*68C>G rs186892978 0.00406
NM_032043.3(BRIP1):c.*152G>T rs540229694 0.00405
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747 0.00403
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_001063.4(TF):c.1688-4C>A rs185023567 0.00402
NM_000059.4(BRCA2):c.*842A>G rs192347116 0.00401
NM_000136.3(FANCC):c.1329+175C>T rs112446681 0.00401
NM_000254.3(MTR):c.2474-17A>T rs571901048 0.00401
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_025215.6(PUS1):c.*119C>T rs117705819 0.00401
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752 0.00398
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=) rs115491049 0.00396
NM_032444.4(SLX4):c.336G>A (p.Pro112=) rs79126454 0.00393
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775 0.00389
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_000032.5(ALAS2):c.*124C>T rs145843014 0.00387
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294 0.00385
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_001142864.4(PIEZO1):c.4955+3G>A rs569520386 0.00382
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680 0.00382
NM_004134.7(HSPA9):c.21T>G (p.Ala7=) rs36043650 0.00380
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser) rs78770603 0.00380
NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu) rs76947588 0.00380
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023 0.00378
NM_006363.6(SEC23B):c.1404+20_1404+21del rs369173250 0.00378
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090 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_000373.4(UMPS):c.*4344T>C rs180944864 0.00372
NM_001040436.3(YARS2):c.342C>T (p.Gly114=) rs115606831 0.00371
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493 0.00371
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_001374504.1(TMPRSS6):c.1627G>A (p.Asp543Asn) rs76970337 0.00370
NM_006947.4(SRP72):c.686A>G (p.His229Arg) rs138986942 0.00369
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_006996.2(SLC19A2):c.-196C>A rs72542444 0.00366
NM_206965.2(FTCD):c.407G>A (p.Arg136Gln) rs149596485 0.00366
NM_018368.4(LMBRD1):c.562+18T>A rs183663902 0.00364
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592 0.00362
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_001063.4(TF):c.417G>A (p.Thr139=) rs113868497 0.00362
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_032043.3(BRIP1):c.*3302G>T rs188292745 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000373.4(UMPS):c.*4876C>G rs192036374 0.00361
NM_001374504.1(TMPRSS6):c.2112C>T (p.Gly704=) rs118004991 0.00361
NM_000135.4(FANCA):c.3348+29C>T rs1800348 0.00360
NM_022725.4(FANCF):c.*461G>T rs45458698 0.00359
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=) rs150494562 0.00357
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=) rs140584437 0.00356
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_032043.3(BRIP1):c.*4040T>A rs111580456 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_032043.3(BRIP1):c.*1263A>G rs73991940 0.00355
NM_000059.4(BRCA2):c.*839T>C rs76358429 0.00354
NM_001142864.4(PIEZO1):c.2330-16C>T rs9940889 0.00354
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NM_138477.4(CDAN1):c.309G>T (p.Pro103=) rs575562332 0.00350
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_015077.4(SARM1):c.*250T>C rs147971222 0.00348
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000289.6(PFKM):c.*411G>A rs79507126 0.00345
NM_030943.4(AMN):c.208-10T>C rs115851517 0.00345
NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly) rs34127778 0.00344
NM_138477.4(CDAN1):c.237G>C (p.Ser79=) rs180857061 0.00344
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_025215.6(PUS1):c.*253G>C rs59879353 0.00343
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_001081.4(CUBN):c.*769G>A rs149618660 0.00335
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_006947.4(SRP72):c.1640+6dup rs572508224 0.00334
NM_006363.6(SEC23B):c.221+76A>G rs183784857 0.00333
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu) rs59706816 0.00333
NM_002250.3(KCNN4):c.820-2dup rs574008067 0.00332
NM_025215.6(PUS1):c.345C>T (p.Asp115=) rs145798848 0.00332
NM_000975.5(RPL11):c.158-18G>C rs115017937 0.00330
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_000373.4(UMPS):c.*868del rs570945751 0.00329
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg) rs1800202 0.00329
NM_006363.6(SEC23B):c.1666-148G>C rs116352690 0.00329
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_001374504.1(TMPRSS6):c.537C>T (p.Ala179=) rs139207981 0.00325
NM_022725.4(FANCF):c.199A>C (p.Arg67=) rs146647469 0.00325
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_000135.4(FANCA):c.1626+16C>T rs1800333 0.00322
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=) rs11556721 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_022725.4(FANCF):c.*708C>T rs61889392 0.00321
NM_182916.3(TRNT1):c.231T>C (p.Asp77=) rs114362638 0.00321
NM_020937.4(FANCM):c.2190A>G (p.Gln730=) rs117392855 0.00320
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204 0.00320
NM_033022.4(RPS24):c.*11G>A rs139289215 0.00319
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=) rs142667852 0.00318
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_020937.4(FANCM):c.4222+7T>G rs148675704 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000518.4(HBB):c.-133G>A rs72561473 0.00312
NM_002693.3(POLG):c.3644-72C>A rs1801377 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_138477.4(CDAN1):c.2263-5G>A rs190802841 0.00311
NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=) rs72555746 0.00310
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) rs199598260 0.00310
NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=) rs77191722 0.00309
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) rs183647059 0.00307
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu) rs140892471 0.00307
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_000037.4(ANK1):c.5544+46G>A rs114905632 0.00304
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_032444.4(SLX4):c.*1041A>G rs117958592 0.00304
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_001011.4(RPS7):c.-36A>C rs17552296 0.00303
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=) rs113831595 0.00300
NM_000119.2(EPB42):c.*82G>A rs148274379 0.00299
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_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_032043.3(BRIP1):c.*1964T>C rs140267868 0.00297
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser) rs139202766 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_015077.4(SARM1):c.*1722C>T rs114008979 0.00295
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_005689.4(ABCB6):c.688-9C>T rs146410593 0.00294
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439 0.00292
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) rs34211240 0.00291
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000096.4(CP):c.2878+12T>G rs35848147 0.00288
NM_000342.4(SLC4A1):c.*1227A>C rs141425539 0.00288
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=) rs147161012 0.00288
NM_001022.4(RPS19):c.411+12G>A rs61762296 0.00287
NM_001081.4(CUBN):c.8411-14T>C rs141775273 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) rs45594632 0.00285
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) rs61757385 0.00285
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala) rs61733629 0.00285
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_004629.1(FANCG):c.-450G>C rs535301610 0.00283
NM_138477.4(CDAN1):c.1524A>G (p.Gln508=) rs147500837 0.00283
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634 0.00282
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902 0.00282
NM_000373.4(UMPS):c.*3020G>A rs185476268 0.00281
NM_006363.6(SEC23B):c.993+19G>A rs144225458 0.00281
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_030943.4(AMN):c.843+12G>A rs140902778 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_032043.3(BRIP1):c.*128A>G rs150444311 0.00277
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_001365304.2(LOC112694756):c.*1740C>T rs191226606 0.00274
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000096.4(CP):c.394+19G>A rs188121726 0.00272
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_001081.4(CUBN):c.10033-17C>T rs188241873 0.00271
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000373.4(UMPS):c.*1931G>A rs143926148 0.00269
NM_000373.4(UMPS):c.*3785C>G rs181697356 0.00269
NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr) rs113768282 0.00268
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932 0.00268
NM_000969.5(RPL5):c.325-4A>G rs183825489 0.00267
NM_001386140.1(MTTP):c.552A>T (p.Lys184Asn) rs144315111 0.00267
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_001386140.1(MTTP):c.1557+7T>A rs142706742 0.00266
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_000254.3(MTR):c.1485G>A (p.Met495Ile) rs2229275 0.00265
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=) rs35736353 0.00265
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=) rs200330662 0.00264
NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala) rs34552966 0.00263
NM_000136.3(FANCC):c.-225C>T rs182633348 0.00262
NM_017875.4(SLC25A38):c.*304C>T rs113251543 0.00262
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000254.3(MTR):c.2349C>T (p.Asp783=) rs150734119 0.00261
NM_001142864.4(PIEZO1):c.7317-5C>T rs150172633 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000254.3(MTR):c.2473+8G>T rs144061765 0.00260
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_000373.4(UMPS):c.*4623C>T rs75775614 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_002049.4(GATA1):c.1173G>A (p.Thr391=) rs61735969 0.00256
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863 0.00255
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=) rs113819179 0.00254
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_001063.4(TF):c.333G>A (p.Gln111=) rs150548621 0.00252
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424 0.00250
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001063.4(TF):c.635+13T>A rs41298993 0.00246
NM_000342.4(SLC4A1):c.-60G>A rs75489266 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_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042 0.00243
NM_015077.4(SARM1):c.*518G>A rs569526091 0.00243
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546 0.00243
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_006363.6(SEC23B):c.367-17T>C rs77096313 0.00235
NM_000518.5(HBB):c.315+26T>G rs368604295 0.00234
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_000969.5(RPL5):c.-52C>G rs143326916 0.00232
NM_015077.4(SARM1):c.1924-978del rs559270240 0.00232
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_001374504.1(TMPRSS6):c.406G>A (p.Glu136Lys) rs116310349 0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_001018115.3(FANCD2):c.-6G>C rs3732974 0.00227
NM_032444.4(SLX4):c.*658T>C rs541410329 0.00227
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279 0.00225
NM_001018115.3(FANCD2):c.4281+398G>C rs34092072 0.00225
NM_001114134.2(EPB42):c.894C>T (p.Thr298=) rs35719500 0.00225
NM_138477.4(CDAN1):c.2542-4C>G rs147426809 0.00225
NM_000136.3(FANCC):c.*450G>A rs149227790 0.00224
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_025215.6(PUS1):c.22C>T (p.Leu8=) rs139227671 0.00222
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) rs142903218 0.00221
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_006363.6(SEC23B):c.689+10C>T rs200020725 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_001014.5(RPS10):c.-29C>T rs140822093 0.00218
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950 0.00218
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_007294.4(BRCA1):c.-19-361C>T rs141625477 0.00217
NM_001021.6(RPS17):c.328-7G>A rs975130647 0.00215
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_006947.4(SRP72):c.*24G>A rs144710632 0.00215
NM_022725.4(FANCF):c.*106T>C rs16909782 0.00215
NM_022725.4(FANCF):c.786A>G (p.Leu262=) rs11026706 0.00215
NM_030943.4(AMN):c.208-16C>T rs202004969 0.00214
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025 0.00213
NM_000969.5(RPL5):c.*47T>C rs72968037 0.00213
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_000059.4(BRCA2):c.*841A>G rs186619625 0.00210
NM_001386140.1(MTTP):c.*382T>C rs556994625 0.00210
NM_006563.5(KLF1):c.311C>T (p.Ala104Val) rs182276666 0.00210
NM_030943.4(AMN):c.843+11C>T rs369361298 0.00210
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_138477.4(CDAN1):c.3450+17A>G rs141626745 0.00210
NM_000037.4(ANK1):c.*8C>A rs146341756 0.00209
NM_000136.3(FANCC):c.*2524G>A rs56199232 0.00208
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_001114134.2(EPB42):c.453T>C (p.Asn151=) rs114136713 0.00205
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
NM_032444.4(SLX4):c.-381A>G rs375326827 0.00205
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_000373.4(UMPS):c.*1088T>G rs535422876 0.00204
NM_001365304.2(LOC112694756):c.*621+4C>T rs200278984 0.00204
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=) rs139809959 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr) rs146071220 0.00203
NM_000355.4(TCN2):c.64+11C>T rs141519384 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000175.5(GPI):c.907A>C (p.Met303Leu) rs143733383 0.00202
NM_000254.3(MTR):c.2474-18_2474-17del rs1491459998 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_015506.3(MMACHC):c.276+17T>A rs115028762 0.00201
NM_000996.4(RPL35A):c.*14C>A rs10022 0.00200
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr) rs781949460 0.00200
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860 0.00199
NM_001374504.1(TMPRSS6):c.307C>T (p.Arg103Cys) rs113803353 0.00199
NM_002454.3(MTRR):c.857C>T (p.Thr286Met) rs79430644 0.00198
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00196
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781 0.00193
NM_000617.3(SLC11A2):c.832-3T>C rs201248826 0.00193
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276 0.00193
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_001113378.2(FANCI):c.2447C>G (p.Ala816Gly) rs151178507 0.00188
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786 0.00187
NM_206965.2(FTCD):c.643C>T (p.Arg215Cys) rs149667449 0.00187
NM_000096.4(CP):c.1945G>A (p.Ala649Thr) rs141466225 0.00186
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_022725.4(FANCF):c.246C>T (p.Asn82=) rs139724351 0.00185
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_000342.4(SLC4A1):c.*1792G>A rs143785442 0.00184
NM_000037.4(ANK1):c.2197-17G>A rs188360816 0.00183
NM_000289.6(PFKM):c.1500+29C>T rs138256599 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_001081.4(CUBN):c.9987G>A (p.Ser3329=) rs80308930 0.00182
NM_001114134.2(EPB42):c.741C>A (p.Gly247=) rs115626075 0.00182
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376 0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_000975.5(RPL11):c.7-20G>T rs142110379 0.00180
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_025215.5(PUS1):c.-453C>T rs551126678 0.00180
NM_000373.4(UMPS):c.*1517C>A rs74477033 0.00179
NM_001018115.3(FANCD2):c.4281+115C>A rs78896323 0.00179
NM_001040436.3(YARS2):c.*469C>T rs182429712 0.00179
NM_006563.5(KLF1):c.325C>T (p.Pro109Ser) rs117351327 0.00179
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=) rs142333130 0.00178
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_015077.4(SARM1):c.*1575G>A rs200529579 0.00177
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_020937.4(FANCM):c.491A>C (p.His164Pro) rs144278051 0.00176
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_000096.4(CP):c.*1081T>A rs188137938 0.00174
NM_000342.4(SLC4A1):c.-135G>A rs183529485 0.00173
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu) rs140088149 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00172
NM_006563.5(KLF1):c.*22T>A rs149022596 0.00172
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_015077.4(SARM1):c.*646C>G rs139343092 0.00170
NM_000969.5(RPL5):c.325-11T>G rs145058455 0.00169
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302 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_000342.4(SLC4A1):c.-30C>T rs148028272 0.00167
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482 0.00166
NM_000298.6(PKLR):c.*14C>T rs8177994 0.00166
NM_206965.2(FTCD):c.456+10C>G rs113169471 0.00166
NM_000135.4(FANCA):c.1360-10C>G rs150836356 0.00165
NM_000373.4(UMPS):c.*4511G>A rs569255721 0.00165
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_000254.3(MTR):c.685G>A (p.Val229Ile) rs61736441 0.00164
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_015077.4(SARM1):c.1924-910C>T 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_000254.3(MTR):c.2474-16A>T rs539082928 0.00162
NM_000289.5(PFKM):c.-177G>C rs78512814 0.00162
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_001018115.3(FANCD2):c.3560+20C>T rs55804542 0.00162
NM_001022.3(RPS19):c.-234G>A rs142324259 0.00161
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_000476.3(AK1):c.325-9C>T rs145431113 0.00160
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_003126.4(SPTA1):c.5118C>T (p.His1706=) rs200945419 0.00159
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441 0.00158
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn) rs111944585 0.00158
NM_000254.3(MTR):c.764+16T>C rs138222686 0.00158
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_001040436.3(YARS2):c.456G>A (p.Ala152=) rs201940521 0.00157
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_001081.4(CUBN):c.1417+20T>C rs181536212 0.00156
NM_018062.4(FANCL):c.817T>C (p.Leu273=) rs61753272 0.00156
NM_000136.3(FANCC):c.*1262T>C rs45520432 0.00155
NM_000136.3(FANCC):c.-29A>C rs4647414 0.00155
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_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001114134.2(EPB42):c.430+12C>T rs185794093 0.00155
NM_022725.4(FANCF):c.*1440A>G rs191742011 0.00155
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516 0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_006947.4(SRP72):c.*221A>G rs149250989 0.00152
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys) rs61729373 0.00152
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_001113525.2(ZNF276):c.1575-29G>A rs17227438 0.00151
NM_001374504.1(TMPRSS6):c.212C>T (p.Ala71Val) rs139563689 0.00151
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) rs61995897 0.00151
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_000096.4(CP):c.347C>A (p.Pro116His) rs73866999 0.00150
NM_000355.4(TCN2):c.-98T>G rs370882214 0.00150
NM_000969.5(RPL5):c.-42A>C rs145634330 0.00150
NM_001029.5(RPS26):c.-25C>T rs373484606 0.00150
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val) rs114549781 0.00150
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_032043.3(BRIP1):c.*3755A>G rs183234058 0.00149
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_020207.7(ERCC6L2):c.163T>G (p.Leu55Val) rs141719745 0.00148
NM_032444.4(SLX4):c.3109T>C (p.Leu1037=) rs58735123 0.00148
NM_206965.2(FTCD):c.36G>A (p.Ser12=) rs150970653 0.00148
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_002693.3(POLG):c.3644-184T>C rs115758754 0.00147
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495 0.00147
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_000037.4(ANK1):c.*821C>T rs115248068 0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000136.3(FANCC):c.*1483T>C rs552548603 0.00146
NM_001022.4(RPS19):c.72-92A>G rs566047445 0.00146
NM_003126.4(SPTA1):c.*387T>C rs549664412 0.00146
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_000617.3(SLC11A2):c.504A>G (p.Ser168=) rs145155499 0.00145
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val) rs16879355 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_080669.6(SLC46A1):c.642G>A (p.Leu214=) rs145398587 0.00145
NM_138477.4(CDAN1):c.*722G>A rs528323093 0.00145
NM_001014.5(RPS10):c.-21C>G rs181470609 0.00143
NM_001081.4(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_005431.2(XRCC2):c.40-16T>C rs41274991 0.00141
NM_024675.4(PALB2):c.*232G>T rs180748355 0.00141
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly) rs140051968 0.00141
NM_015702.3(MMADHC):c.9+14C>T rs140075619 0.00140
NM_001029.5(RPS26):c.-35G>A rs188808121 0.00139
NM_001184722.1(GPI):c.7G>A (p.Ala3Thr) rs549433538 0.00139
NM_004629.2(FANCG):c.646+12A>G rs17878604 0.00139
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) rs149992222 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_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_005142.3(CBLIF):c.872-8C>A rs200571955 0.00138
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801 0.00137
NM_001040436.3(YARS2):c.*126_*127del rs141873255 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_022725.4(FANCF):c.*709G>T rs140060318 0.00136
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_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00134
NM_000996.4(RPL35A):c.-33G>A rs564722971 0.00133
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys) rs75424023 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) rs140141633 0.00132
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) rs143643243 0.00131
NM_032444.4(SLX4):c.422G>T (p.Gly141Val) rs77306735 0.00131
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val) rs143086237 0.00130
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_001081.4(CUBN):c.349-8A>G rs188559699 0.00129
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_000355.4(TCN2):c.*381T>G rs149713328 0.00128
NM_015077.4(SARM1):c.1924-885G>A rs886052737 0.00128
NM_020937.4(FANCM):c.2268C>A (p.Arg756=) rs146061601 0.00128
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_206965.2(FTCD):c.1409G>A (p.Arg470Gln) rs61735839 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000365.6(TPI1):c.*219C>T rs376899563 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000617.3(SLC11A2):c.*546G>A rs193030246 0.00126
NM_000969.5(RPL5):c.*1A>G rs11540833 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199 0.00125
NM_001081.4(CUBN):c.1947+9T>A rs376950340 0.00125
NM_001081.4(CUBN):c.2792-6C>G rs185269080 0.00125
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001113378.2(FANCI):c.3925-14C>G rs148365638 0.00124
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233 0.00124
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_000175.5(GPI):c.987C>T (p.Asn329=) rs140676743 0.00123
NM_001374504.1(TMPRSS6):c.*411C>T rs6000549 0.00123
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656 0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 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_020897.3(HCN3):c.*1042A>G rs559809916 0.00122
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_000373.4(UMPS):c.*4755G>A rs189776179 0.00121
NM_007055.4(POLR3A):c.-35C>G rs201700756 0.00121
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) rs149803148 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_002454.3(MTRR):c.828G>A (p.Val276=) rs115289458 0.00120
NM_017875.4(SLC25A38):c.-161G>A rs528990278 0.00120
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_000298.6(PKLR):c.1706G>A (p.Arg569Gln) rs61755431 0.00119
NM_000373.4(UMPS):c.495G>A (p.Ala165=) rs75971351 0.00119
NM_001114134.2(EPB42):c.10+79G>A rs149249456 0.00119
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_000365.6(TPI1):c.463G>A (p.Val155Met) rs188138723 0.00118
NM_000617.3(SLC11A2):c.197G>A (p.Ser66Asn) rs141728916 0.00118
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787 0.00118
NM_020937.4(FANCM):c.4147T>G (p.Tyr1383Asp) rs144104545 0.00118
NM_030943.4(AMN):c.57G>T (p.Ala19=) rs145328398 0.00118
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr) rs187932146 0.00116
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr) rs143936557 0.00115
NM_030943.4(AMN):c.1169+11C>G rs764673271 0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_206965.2(FTCD):c.1220C>A (p.Thr407Lys) rs148920158 0.00115
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258 0.00114
NM_001081.4(CUBN):c.348+17C>T rs200466568 0.00114
NM_001374504.1(TMPRSS6):c.838G>T (p.Val280Leu) rs201148397 0.00114
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu) rs200860772 0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_033022.4(RPS24):c.363A>G (p.Ala121=) rs139181869 0.00114
NM_000059.4(BRCA2):c.*382A>G rs559790882 0.00113
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln) rs144452782 0.00113
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly) rs116736407 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001374504.1(TMPRSS6):c.*499C>T rs560949530 0.00112
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=) rs150097733 0.00112
NM_058216.3(RAD51C):c.837+13T>C rs188613030 0.00112
NM_000373.4(UMPS):c.*4895A>G rs142288742 0.00111
NM_001081.4(CUBN):c.5967G>C (p.Val1989=) rs139153235 0.00111
NM_001081.4(CUBN):c.6673G>C (p.Asp2225His) rs140862613 0.00111
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_000135.4(FANCA):c.80-13C>T rs189841793 0.00110
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_003126.4(SPTA1):c.174C>T (p.Phe58=) rs190704778 0.00110
NM_018062.4(FANCL):c.402T>C (p.Ser134=) rs145284589 0.00110
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_002049.4(GATA1):c.201G>A (p.Glu67=) rs61753429 0.00109
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_015077.4(SARM1):c.*1539G>T rs41297915 0.00109
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738 0.00108
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) rs148068843 0.00108
NM_015077.4(SARM1):c.*527C>T rs118138669 0.00108
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) rs41297069 0.00108
NM_000136.3(FANCC):c.*1879C>T rs192262179 0.00107
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr) rs45495503 0.00107
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr) rs148791570 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp) rs189103810 0.00106
NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg) rs187921784 0.00106
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) rs140085544 0.00105
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000617.3(SLC11A2):c.-39+5G>C rs180796770 0.00105
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_001081.4(CUBN):c.2677A>G (p.Thr893Ala) rs188342700 0.00104
NM_002454.3(MTRR):c.781-14A>G rs112996747 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg) rs148327783 0.00103
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) rs114870847 0.00102
NM_000365.6(TPI1):c.192G>A (p.Ala64=) rs149190846 0.00102
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=) rs115541691 0.00102
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser) rs41297065 0.00102
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=) rs368544526 0.00101
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_015077.4(SARM1):c.*1531C>T rs41297917 0.00101
NM_015077.4(SARM1):c.*2038C>T rs146041886 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro) rs147223483 0.00101
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_182916.3(TRNT1):c.945C>T (p.Ile315=) rs150742431 0.00100
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_000037.4(ANK1):c.2960+13G>T rs200746947 0.00099
NM_000096.3(CP):c.-183T>C rs185578646 0.00099
NM_000355.4(TCN2):c.941-13C>T rs192009509 0.00099
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_007294.4(BRCA1):c.5277+78G>A rs80358107 0.00099
NM_015077.4(SARM1):c.*1389G>C rs41297919 0.00099
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_006363.6(SEC23B):c.66C>T (p.Asn22=) rs144542988 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228 0.00098
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_021922.3(FANCE):c.696G>A (p.Glu232=) rs147356927 0.00098
NM_025215.6(PUS1):c.1140C>T (p.Thr380=) rs138198591 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000136.3(FANCC):c.*667C>T rs150462386 0.00096
NM_000375.3(UROS):c.-136C>T rs539482783 0.00096
NM_001063.4(TF):c.1027C>T (p.Arg343Trp) rs150854910 0.00096
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys) rs188205145 0.00096
NM_017875.4(SLC25A38):c.*490G>A rs150889211 0.00096
NM_003126.4(SPTA1):c.3715-11T>C rs147184530 0.00094
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys) rs139375455 0.00093
NM_000342.4(SLC4A1):c.*353G>C rs571581247 0.00093
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_032043.3(BRIP1):c.*2337A>T rs373664066 0.00093
NM_206965.2(FTCD):c.457-14G>A rs201867413 0.00093
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) rs143779235 0.00092
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_020937.4(FANCM):c.1397-12A>G rs560956489 0.00092
NM_032444.4(SLX4):c.2047G>A (p.Ala683Thr) rs115866745 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_000375.3(UROS):c.475+14T>A rs17425877 0.00091
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078 0.00091
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
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.9204C>T (p.Ile3068=) rs117755237 0.00091
NM_001081.4(CUBN):c.9206C>T (p.Thr3069Ile) rs117400821 0.00091
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) rs186994154 0.00091
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala) rs143006771 0.00091
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=) rs143531829 0.00090
NM_001113525.2(ZNF276):c.*183C>T rs577149121 0.00090
NM_032043.3(BRIP1):c.*3188G>A rs369850537 0.00090
NM_000037.4(ANK1):c.*2123G>T rs560472367 0.00089
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341 0.00089
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_001386140.1(MTTP):c.*694A>C rs187658213 0.00089
NM_003126.4(SPTA1):c.3108C>T (p.His1036=) rs34886778 0.00089
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) rs150926439 0.00089
NM_006563.5(KLF1):c.520G>T (p.Gly174Cys) rs566095433 0.00089
NM_032043.3(BRIP1):c.*132G>A rs143361598 0.00089
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_030943.4(AMN):c.844-3C>T rs145519816 0.00088
NM_032043.3(BRIP1):c.*3450T>C rs74859843 0.00088
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe) rs201837257 0.00088
NM_001271696.3(ABCB7):c.1032+12A>G rs148980611 0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
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_001113525.2(ZNF276):c.1475-48G>A rs201316239 0.00086
NM_001374504.1(TMPRSS6):c.183G>A (p.Val61=) rs150521260 0.00086
NM_001376013.1(EPB41):c.120A>G (p.Gln40=) rs146663694 0.00086
NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=) rs143780369 0.00086
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_206965.2(FTCD):c.1337G>A (p.Arg446Gln) rs79021510 0.00086
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00085
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689 0.00084
NM_206965.2(FTCD):c.239-16C>T rs376733737 0.00084
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) rs61745147 0.00083
NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg) rs141489700 0.00083
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338 0.00083
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654 0.00083
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu) rs45600543 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) rs144070828 0.00082
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000619.3(IFNG):c.183+15C>G rs199708992 0.00081
NM_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 0.00081
NM_001374504.1(TMPRSS6):c.844G>A (p.Gly282Ser) rs145053404 0.00081
NM_006516.4(SLC2A1):c.*22G>A rs2229683 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_006563.5(KLF1):c.*254C>T rs564687827 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser) rs147128920 0.00081
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=) rs188529539 0.00081
NM_001018115.3(FANCD2):c.1656+14T>A rs200473919 0.00080
NM_001022.4(RPS19):c.-10A>G rs564634801 0.00080
NM_001081.4(CUBN):c.5733+16C>T rs139579256 0.00080
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673 0.00080
NM_015077.4(SARM1):c.*2535T>C rs181698246 0.00080
NM_030943.4(AMN):c.275C>T (p.Ser92Leu) rs144707331 0.00079
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672 0.00078
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_001081.4(CUBN):c.4671T>G (p.Leu1557=) rs151197305 0.00078
NM_001142285.2(RPS24):c.811A>C (p.Ile271Leu) rs74653472 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_020207.7(ERCC6L2):c.3480T>C (p.Val1160=) rs150957564 0.00078
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719 0.00078
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys) rs144832924 0.00078
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) rs141305388 0.00077
NM_000136.3(FANCC):c.*983C>T rs56059656 0.00077
NM_001083116.3(PRF1):c.1229G>A (p.Arg410Gln) rs150558419 0.00077
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=) rs139369078 0.00077
NM_000059.4(BRCA2):c.*753C>T rs190094748 0.00076
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314 0.00076
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202 0.00076
NM_001081.4(CUBN):c.3G>T (p.Met1Ile) rs11254385 0.00076
NM_001114134.2(EPB42):c.*21T>A rs201342599 0.00076
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu) rs188875641 0.00076
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012 0.00076
NM_018062.4(FANCL):c.*333A>G rs147811379 0.00076
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met) rs61744648 0.00076
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_138477.4(CDAN1):c.2662G>C (p.Asp888His) rs150657573 0.00076
NM_000254.3(MTR):c.3774C>T (p.Pro1258=) rs76418646 0.00075
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479 0.00075
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_015506.3(MMACHC):c.798C>T (p.Ala266=) rs201813445 0.00075
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734 0.00075
NM_000037.4(ANK1):c.*992T>C rs559077429 0.00074
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn) rs140804035 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000136.3(FANCC):c.*593C>G rs561885351 0.00073
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000981.4(RPL19):c.222G>A (p.Arg74=) rs201777990 0.00073
NM_001386140.1(MTTP):c.1985G>C (p.Ser662Thr) rs10011440 0.00073
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) rs148211042 0.00073
NM_006947.4(SRP72):c.*194G>A rs188713088 0.00073
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696 0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001063.4(TF):c.228G>A (p.Ala76=) rs140381335 0.00072
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_206965.2(FTCD):c.141C>T (p.Thr47=) rs61735837 0.00072
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001365304.2(LOC112694756):c.*1134-20G>A rs75559164 0.00071
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_182916.3(TRNT1):c.862T>A (p.Phe288Ile) rs147986219 0.00071
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=) rs5038 0.00070
NM_000373.4(UMPS):c.*1155T>C rs112368493 0.00070
NM_000619.3(IFNG):c.114+11C>T rs200610212 0.00070
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly) rs145023719 0.00070
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312 0.00070
NM_001114134.2(EPB42):c.10+60C>T rs144428415 0.00070
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) rs149927607 0.00070
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_000037.4(ANK1):c.2844C>T (p.Arg948=) rs7001141 0.00069
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_182916.3(TRNT1):c.331A>G (p.Ile111Val) rs149263693 0.00069
NM_001018113.3(FANCB):c.*33T>C rs187611308 0.00068
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_005142.3(CBLIF):c.82G>A (p.Val28Ile) rs139090732 0.00068
NM_005334.3(HCFC1):c.503+14C>G rs371163886 0.00068
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_001018115.3(FANCD2):c.2269+12A>G rs34751191 0.00067
NM_001081.4(CUBN):c.*782G>A rs570478432 0.00067
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00067
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_000355.4(TCN2):c.427+17C>T rs187924928 0.00066
NM_000619.3(IFNG):c.-5A>G rs181407537 0.00066
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) rs148081315 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_020937.4(FANCM):c.990A>G (p.Thr330=) rs138677111 0.00066
NM_032444.4(SLX4):c.2667A>G (p.Gln889=) rs146790631 0.00066
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071 0.00065
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=) rs144776083 0.00065
NM_206965.2(FTCD):c.1364C>T (p.Ala455Val) rs61735840 0.00065
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397 0.00064
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_000373.4(UMPS):c.*3359G>T rs752390899 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_015077.4(SARM1):c.*1721T>C rs779490495 0.00064
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345 0.00064
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_000037.4(ANK1):c.*665C>T rs547095997 0.00063
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_000096.4(CP):c.2878+14T>C rs75520320 0.00063
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722 0.00063
NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=) rs181219364 0.00063
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_001081.4(CUBN):c.7112C>T (p.Ser2371Phe) rs141819241 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) rs145247580 0.00063
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501 0.00063
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098 0.00062
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala) rs201838518 0.00062
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_002454.3(MTRR):c.54C>T (p.Ile18=) rs6413426 0.00062
NM_015702.3(MMADHC):c.741A>G (p.Glu247=) rs146820547 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_021922.3(FANCE):c.-126T>A rs930863473 0.00062
NM_000037.4(ANK1):c.*1667T>A rs3802314 0.00061
NM_000373.4(UMPS):c.*4016T>C rs77601301 0.00061
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_001374504.1(TMPRSS6):c.2127C>T (p.Asn709=) rs143878335 0.00061
NM_002693.3(POLG):c.*63A>G rs552236933 0.00061
NM_006516.4(SLC2A1):c.275+17C>T rs761669510 0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr) rs587778335 0.00061
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_032444.4(SLX4):c.339T>C (p.Ser113=) rs144326379 0.00061
NM_138477.4(CDAN1):c.2743T>C (p.Leu915=) rs149472555 0.00061
NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr) rs150984011 0.00061
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=) rs139406689 0.00060
NM_006563.5(KLF1):c.478G>A (p.Glu160Lys) rs772655521 0.00060
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) rs45467798 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_000373.4(UMPS):c.*2552A>G rs548237479 0.00059
NM_001081.4(CUBN):c.8410+18T>C rs186604664 0.00059
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile) rs74790259 0.00059
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=) rs145155300 0.00059
NM_006563.5(KLF1):c.*367C>G rs375799978 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser) rs141268133 0.00059
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp) rs144273492 0.00059
NM_206965.2(FTCD):c.192C>T (p.Asn64=) rs148787454 0.00059
NM_000096.4(CP):c.249T>C (p.Thr83=) rs138512757 0.00058
NM_000373.4(UMPS):c.*1050C>T rs186445088 0.00058
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123 0.00058
NM_001113378.2(FANCI):c.1584-15C>G rs199531931 0.00058
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=) rs142231603 0.00058
NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser) rs148129773 0.00058
NM_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) rs200399318 0.00058
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val) rs139383231 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_033022.4(RPS24):c.-36T>G rs45533232 0.00058
NM_182916.3(TRNT1):c.67C>G (p.Pro23Ala) rs183596892 0.00058
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_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile) rs138398760 0.00057
NM_001113378.2(FANCI):c.1698+16G>A rs142941067 0.00057
NM_025215.6(PUS1):c.1047C>T (p.Asn349=) rs145061048 0.00057
NM_206965.2(FTCD):c.999A>C (p.Arg333=) rs565210074 0.00057
NM_000135.4(FANCA):c.3514-13G>A rs200270574 0.00056
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_000136.3(FANCC):c.1329+111C>T rs527823099 0.00056
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00056
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_000355.4(TCN2):c.809C>T (p.Ala270Val) rs201392026 0.00056
NM_000355.4(TCN2):c.90G>A (p.Leu30=) rs576996415 0.00056
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser) rs149055327 0.00056
NM_001018115.3(FANCD2):c.205+9T>G rs34113138 0.00056
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_001113378.1(FANCI):c.-90T>C rs559714713 0.00056
NM_002454.3(MTRR):c.1058-16G>A rs201644712 0.00056
NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) rs139444835 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_017875.4(SLC25A38):c.*305G>A rs774462116 0.00056
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960 0.00056
NM_032043.3(BRIP1):c.*2070G>A rs764258526 0.00056
NM_206965.2(FTCD):c.1122G>A (p.Val374=) rs376986639 0.00056
NM_000096.4(CP):c.2878+7C>A rs371031293 0.00055
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000136.3(FANCC):c.*1339C>T rs144155068 0.00055
NM_001374504.1(TMPRSS6):c.1206C>T (p.Gly402=) rs146266448 0.00055
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332 0.00055
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp) rs113390214 0.00055
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr) rs147447600 0.00055
NM_020937.4(FANCM):c.4673-12A>G rs373163994 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
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_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_000342.4(SLC4A1):c.349+15C>G rs541501285 0.00054
NM_001081.4(CUBN):c.5522C>T (p.Thr1841Met) rs138989259 0.00054
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) rs78598639 0.00054
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu) rs201862124 0.00054
NM_000096.4(CP):c.1811C>A (p.Pro604His) rs188643164 0.00053
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000355.4(TCN2):c.130C>T (p.Arg44Trp) rs374992877 0.00053
NM_000969.5(RPL5):c.189+267G>C rs138979590 0.00053
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_006947.4(SRP72):c.1704A>G (p.Pro568=) rs41280351 0.00053
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala) rs146325649 0.00053
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly) rs139946652 0.00053
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly) rs370794142 0.00053
NM_032043.3(BRIP1):c.*2667C>T rs373156872 0.00053
NM_032444.4(SLX4):c.2844G>A (p.Ala948=) rs376877866 0.00053
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) rs185504937 0.00052
NM_000186.4(CFH):c.245-15T>C rs200079172 0.00052
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg) rs141141752 0.00052
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_001374504.1(TMPRSS6):c.*503C>G rs117575523 0.00052
NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly) rs140499872 0.00052
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile) rs145533919 0.00052
NM_000135.4(FANCA):c.893+19C>G rs377406711 0.00051
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000987.5(RPL26):c.168+17G>A rs368557278 0.00051
NM_001063.4(TF):c.521C>T (p.Ser174Leu) rs150679929 0.00051
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917 0.00051
NM_001113525.2(ZNF276):c.1475-142T>C rs55794507 0.00051
NM_001355436.2(SPTB):c.774G>A (p.Thr258=) rs12435635 0.00051
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr) rs140534765 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_017875.4(SLC25A38):c.-237G>A rs527536267 0.00051
NM_020937.4(FANCM):c.5067G>A (p.Ala1689=) rs148900115 0.00051
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) rs61753271 0.00051
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
NM_032043.3(BRIP1):c.1935+11G>A rs79121306 0.00051
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106 0.00051
NM_138477.4(CDAN1):c.1860+5G>A rs113313967 0.00051
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=) rs376756703 0.00050
NM_006363.5(SEC23B):c.-76G>C rs373348732 0.00050
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_015077.4(SARM1):c.*1596T>C rs2239909 0.00050
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser) rs73477459 0.00050
NM_138477.4(CDAN1):c.982G>A (p.Val328Ile) rs144448301 0.00050
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_206965.2(FTCD):c.636+9G>A rs370596374 0.00050
NM_000037.4(ANK1):c.*395T>A rs550204540 0.00049
NM_000096.4(CP):c.2554+8C>T rs749646388 0.00049
NM_000186.4(CFH):c.285T>C (p.Thr95=) rs148182625 0.00049
NM_001113525.2(ZNF276):c.*470A>C rs372268907 0.00049
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=) rs186415745 0.00049
NM_018368.4(LMBRD1):c.-103A>G rs369575833 0.00049
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013 0.00049
NM_022725.4(FANCF):c.672C>T (p.Pro224=) rs148955347 0.00049
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_000037.4(ANK1):c.*2281C>T rs545505994 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met) rs144991102 0.00048
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00048
NM_000342.4(SLC4A1):c.*1237C>T rs774513767 0.00048
NM_000375.3(UROS):c.*96G>A rs182303293 0.00048
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His) rs140452766 0.00048
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_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_006947.4(SRP72):c.144G>T (p.Leu48=) rs112496764 0.00048
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229 0.00048
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_138477.4(CDAN1):c.3188C>T (p.Thr1063Met) rs143857276 0.00048
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533 0.00047
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949 0.00047
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_004629.1(FANCG):c.-488G>A rs752617227 0.00047
NM_005050.4(ABCD4):c.1507-18C>T rs368891249 0.00047
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_020937.4(FANCM):c.1551G>A (p.Thr517=) rs139535827 0.00047
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=) rs61749475 0.00047
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809 0.00047
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139 0.00046
NM_000096.4(CP):c.2554+18G>A rs201627704 0.00046
NM_000136.3(FANCC):c.*213T>G rs184733418 0.00046
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000289.6(PFKM):c.495T>A (p.Ile165=) rs148858610 0.00046
NM_000298.6(PKLR):c.507+14C>A rs201156800 0.00046
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) rs146541331 0.00046
NM_000373.4(UMPS):c.*2410_*2412del rs886057878 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001081.4(CUBN):c.*734A>G rs751683958 0.00046
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=) rs143419532 0.00046
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_005050.4(ABCD4):c.425+13A>G rs370752716 0.00046
NM_006363.6(SEC23B):c.1665+6T>C rs371786580 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_020937.4(FANCM):c.159C>T (p.Asp53=) rs147559750 0.00046
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln) rs138151018 0.00046
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met) rs145353518 0.00046
NM_138477.4(CDAN1):c.2868C>T (p.Ala956=) rs150438471 0.00046
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000298.6(PKLR):c.-26C>T rs200181342 0.00045
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001374504.1(TMPRSS6):c.243C>A (p.Gly81=) rs147397866 0.00045
NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg) rs201871926 0.00045
NM_015506.3(MMACHC):c.277-4C>G rs199889403 0.00045
NM_022725.4(FANCF):c.633G>T (p.Gln211His) rs146975768 0.00045
NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg) rs139865448 0.00045
NM_138477.4(CDAN1):c.1368-6C>T rs200290322 0.00045
NM_174936.4(PCSK9):c.*1151del rs563024336 0.00045
NM_206965.2(FTCD):c.*1C>T rs144773622 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_001014.5(RPS10):c.*43A>G rs200231286 0.00044
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
NM_001081.4(CUBN):c.2929T>C (p.Phe977Leu) rs142292210 0.00044
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr) rs149749419 0.00044
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_001114134.2(EPB42):c.581G>A (p.Arg194His) rs146348439 0.00044
NM_001114134.2(EPB42):c.953G>T (p.Gly318Val) rs143974871 0.00044
NM_001386140.1(MTTP):c.502-12C>T rs200628118 0.00044
NM_002454.3(MTRR):c.958A>G (p.Ser320Gly) rs199762141 0.00044
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu) rs148304968 0.00044
NM_025215.6(PUS1):c.456C>G (p.Ala152=) rs369170782 0.00044
NM_032444.4(SLX4):c.1707G>A (p.Pro569=) rs141687678 0.00044
NM_032444.4(SLX4):c.4658A>T (p.Asn1553Ile) rs150460384 0.00044
NM_138477.4(CDAN1):c.2805-11T>A rs200767055 0.00044
NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg) rs141408004 0.00043
NM_000135.4(FANCA):c.3408+9C>G rs377702890 0.00043
NM_000136.3(FANCC):c.*660C>T rs114612660 0.00043
NM_000254.3(MTR):c.1080A>G (p.Leu360=) rs141861479 0.00043
NM_000289.6(PFKM):c.*622G>A rs568063197 0.00043
NM_001063.4(TF):c.43+8C>A rs368521553 0.00043
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_030943.4(AMN):c.928G>A (p.Val310Met) rs201788173 0.00043
NM_032444.4(SLX4):c.4099G>A (p.Ala1367Thr) rs17136464 0.00043
NM_033022.3(RPS24):c.-50G>A rs190989611 0.00043
NM_000096.4(CP):c.2446G>A (p.Val816Ile) rs139058165 0.00042
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_000254.3(MTR):c.1959A>C (p.Gln653His) rs562769000 0.00042
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=) rs142560894 0.00042
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp) rs201674874 0.00042
NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg) rs200807189 0.00042
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00041
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000136.3(FANCC):c.*97dup rs1057515705 0.00041
NM_000373.4(UMPS):c.*1902G>A rs147465900 0.00041
NM_000373.4(UMPS):c.*2605G>A rs554810943 0.00041
NM_000375.3(UROS):c.*178G>A rs569628154 0.00041
NM_000519.3(HBD):c.-62C>T rs144322869 0.00041
NM_000617.3(SLC11A2):c.255G>T (p.Leu85=) rs17216072 0.00041
NM_000996.4(RPL35A):c.165-16C>A rs373782117 0.00041
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 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_002454.3(MTRR):c.1182C>G (p.Asp394Glu) rs149678769 0.00041
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 0.00041
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe) rs201514157 0.00041
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328 0.00041
NM_005050.4(ABCD4):c.1118+9C>T rs370581068 0.00041
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) rs150049339 0.00041
NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn) rs199895244 0.00041
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala) rs142747831 0.00041
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu) rs150216454 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_032444.4(SLX4):c.*882C>T rs578011999 0.00041
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299 0.00041
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_000617.3(SLC11A2):c.15T>C (p.Pro5=) rs192462172 0.00040
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_000981.4(RPL19):c.369G>A (p.Leu123=) rs370663313 0.00040
NM_001081.4(CUBN):c.9826+15G>A rs369467797 0.00040
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848 0.00040
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00040
NM_006363.6(SEC23B):c.1233+4C>T rs201883785 0.00040
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_006563.5(KLF1):c.629C>G (p.Pro210Arg) rs530729436 0.00040
NM_006996.3(SLC19A2):c.*51C>G rs376279404 0.00040
NM_032444.4(SLX4):c.2160+18C>T rs373726275 0.00040
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000136.3(FANCC):c.*2296G>A rs561975553 0.00039
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_001018115.3(FANCD2):c.4281+355A>G rs770674504 0.00039
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369 0.00039
NM_001386140.1(MTTP):c.394-7C>T rs368989581 0.00039
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe) rs146415045 0.00039
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met) rs201634881 0.00039
NM_020937.4(FANCM):c.2127G>A (p.Gln709=) rs141452622 0.00039
NM_022725.4(FANCF):c.637C>T (p.Pro213Ser) rs201382399 0.00039
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln) rs138561555 0.00039
NM_032444.4(SLX4):c.*102G>A rs531417263 0.00039
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_138477.4(CDAN1):c.2776G>A (p.Gly926Arg) rs200401359 0.00039
NM_206965.2(FTCD):c.267C>T (p.Asp89=) rs370444672 0.00039
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) rs142010751 0.00038
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000254.3(MTR):c.1977A>G (p.Lys659=) rs144767461 0.00038
NM_000373.4(UMPS):c.*3065C>T rs116880739 0.00038
NM_000373.4(UMPS):c.*4693G>A rs757504757 0.00038
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00038
NM_001081.4(CUBN):c.9236+8A>G rs372673718 0.00038
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe) rs116959874 0.00038
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660 0.00038
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=) rs138862492 0.00038
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr) rs138532294 0.00038
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538 0.00038
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842 0.00038
NM_025215.6(PUS1):c.987C>T (p.Pro329=) rs150880557 0.00038
NM_030943.4(AMN):c.735C>T (p.Pro245=) rs546245909 0.00038
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888 0.00038
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070 0.00038
NM_033022.4(RPS24):c.*21C>T rs114512325 0.00038
NM_000096.4(CP):c.1501A>C (p.Ser501Arg) rs139756428 0.00037
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501 0.00037
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479 0.00037
NM_000637.5(GSR):c.697C>T (p.Arg233Cys) rs145851500 0.00037
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001081.4(CUBN):c.8593G>A (p.Val2865Met) rs146847375 0.00037
NM_003126.4(SPTA1):c.1351-4A>G rs200868774 0.00037
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345 0.00037
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801 0.00037
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=) rs145347209 0.00037
NM_015077.4(SARM1):c.*812G>A rs750056802 0.00037
NM_025215.6(PUS1):c.-244G>C rs886049091 0.00037
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00036
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000186.3(CFH):c.-175T>C rs762143457 0.00036
NM_000186.4(CFH):c.1111C>A (p.His371Asn) rs145650378 0.00036
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_000298.6(PKLR):c.*582G>A rs758139094 0.00036
NM_000617.3(SLC11A2):c.*1949A>G rs72561485 0.00036
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) rs147255018 0.00036
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_001022.3(RPS19):c.-274T>C rs77406992 0.00036
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=) rs146520285 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_018062.4(FANCL):c.534A>G (p.Thr178=) rs151181785 0.00036
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val) rs566584111 0.00036
NM_182916.3(TRNT1):c.513T>C (p.Asn171=) rs190423145 0.00036
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_206965.2(FTCD):c.774+18C>T rs372987977 0.00036
NM_000037.4(ANK1):c.*701C>T rs546029986 0.00035
NM_000037.4(ANK1):c.229-11A>G rs372152994 0.00035
NM_000037.4(ANK1):c.327+3A>G rs374296178 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367 0.00035
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=) rs148115666 0.00035
NM_000373.4(UMPS):c.*274C>T rs556138886 0.00035
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_000975.5(RPL11):c.171C>G (p.Val57=) rs149087936 0.00035
NM_001081.4(CUBN):c.5196C>T (p.Thr1732=) rs182162293 0.00035
NM_001081.4(CUBN):c.7533+17G>A rs374394291 0.00035
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432 0.00035
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475 0.00035
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812 0.00035
NM_005334.3(HCFC1):c.4943-11C>T rs375388306 0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_006563.5(KLF1):c.*454C>G rs538356283 0.00035
NM_006947.4(SRP72):c.789A>G (p.Leu263=) rs77935196 0.00035
NM_021922.3(FANCE):c.-105C>T rs886061326 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser) rs771897046 0.00035
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val) rs138839403 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_000037.4(ANK1):c.5395-1057C>T rs372282334 0.00034
NM_000135.4(FANCA):c.1827-19T>C rs370677007 0.00034
NM_000254.3(MTR):c.1953+6G>C rs147410975 0.00034
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788 0.00034
NM_000342.4(SLC4A1):c.*1676A>G rs745898810 0.00034
NM_000342.4(SLC4A1):c.*1933G>A rs565128885 0.00034
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=) rs371915501 0.00034
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121 0.00034
NM_001081.4(CUBN):c.1349G>A (p.Gly450Asp) rs146463364 0.00034
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_001113378.2(FANCI):c.2291+12C>G rs369540539 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr) rs150594251 0.00034
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421 0.00034
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062 0.00034
NM_015077.4(SARM1):c.1924-667G>A rs184621509 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_022725.4(FANCF):c.91G>A (p.Val31Met) rs11556562 0.00034
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_030943.4(AMN):c.651+3G>T rs751723677 0.00034
NM_032043.3(BRIP1):c.*380C>T rs556729826 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_032444.4(SLX4):c.*1035A>G rs149634682 0.00034
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365 0.00034
NM_058216.3(RAD51C):c.571+16A>G rs141621051 0.00034
NM_182916.3(TRNT1):c.343-14G>A rs373630283 0.00034
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_206965.2(FTCD):c.1023C>T (p.Arg341=) rs770019374 0.00034
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_003126.4(SPTA1):c.3477+10G>C rs201932894 0.00033
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=) rs116615540 0.00033
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_017875.4(SLC25A38):c.456+10A>G rs368989667 0.00033
NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg) rs371901013 0.00033
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525 0.00033
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190 0.00032
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) rs762382303 0.00032
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000136.3(FANCC):c.*1495T>G rs41281198 0.00032
NM_000136.3(FANCC):c.*2305G>A rs562465438 0.00032
NM_000136.3(FANCC):c.-78-18T>G rs560839822 0.00032
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys) rs142902005 0.00032
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00032
NM_000375.3(UROS):c.*99A>G rs886046814 0.00032
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_000617.3(SLC11A2):c.1425C>T (p.Gly475=) rs139057918 0.00032
NM_000969.5(RPL5):c.-62C>G rs368663464 0.00032
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys) rs138022214 0.00032
NM_001081.4(CUBN):c.5424G>T (p.Val1808=) rs148649437 0.00032
NM_001081.4(CUBN):c.791G>C (p.Arg264Thr) rs144440300 0.00032
NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165 0.00032
NM_001113525.2(ZNF276):c.*217A>T rs775549018 0.00032
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu) rs145545828 0.00032
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp) rs372075053 0.00032
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567 0.00032
NM_018062.4(FANCL):c.546C>T (p.Ser182=) rs200679501 0.00032
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668 0.00032
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg) rs45524646 0.00032
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) rs143328343 0.00031
NM_000059.4(BRCA2):c.*854T>C rs572993583 0.00031
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300 0.00031
NM_000186.4(CFH):c.2957-7A>G rs190778135 0.00031
NM_000289.5(PFKM):c.-174G>A rs765876195 0.00031
NM_000289.6(PFKM):c.1611C>T (p.Asp537=) rs764961084 0.00031
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_000355.4(TCN2):c.1229C>G (p.Ala410Gly) rs145807876 0.00031
NM_000365.6(TPI1):c.*388C>T rs540279409 0.00031
NM_000373.4(UMPS):c.1063C>A (p.Gln355Lys) rs202135467 0.00031
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00031
NM_000617.3(SLC11A2):c.1258A>G (p.Ile420Val) rs148582995 0.00031
NM_001014.5(RPS10):c.-14C>T rs576997899 0.00031
NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys) rs747865842 0.00031
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396 0.00031
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=) rs147426418 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_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621 0.00031
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr) rs139181400 0.00031
NM_002049.4(GATA1):c.113C>T (p.Pro38Leu) rs372131208 0.00031
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
NM_003126.4(SPTA1):c.1833+4G>A rs370697955 0.00031
NM_003126.4(SPTA1):c.3477+15C>T rs369904982 0.00031
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) rs200890386 0.00031
NM_004629.2(FANCG):c.794C>T (p.Ala265Val) rs764992007 0.00031
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496 0.00031
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617 0.00031
NM_006363.6(SEC23B):c.358G>A (p.Val120Met) rs372784283 0.00031
NM_006947.4(SRP72):c.*505C>T rs562987091 0.00031
NM_006996.3(SLC19A2):c.*1186A>G rs922589020 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055 0.00031
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter) rs778926161 0.00031
NM_022725.4(FANCF):c.*1094A>G rs544116147 0.00031
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273 0.00031
NM_032444.4(SLX4):c.1470C>T (p.Leu490=) rs139766312 0.00031
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080 0.00031
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122 0.00031
NM_138477.4(CDAN1):c.*223G>C rs568387944 0.00031
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_206965.2(FTCD):c.1168A>G (p.Thr390Ala) rs201828652 0.00031
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val) rs143995220 0.00030
NM_000037.4(ANK1):c.1194C>T (p.Asp398=) rs148471199 0.00030
NM_000135.4(FANCA):c.1225+12C>T rs200672872 0.00030
NM_000135.4(FANCA):c.1716-20T>C rs367726674 0.00030
NM_000135.4(FANCA):c.2478G>A (p.Thr826=) rs147283549 0.00030
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=) rs141128234 0.00030
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys) rs139002629 0.00030
NM_000969.5(RPL5):c.324+14G>T rs200772479 0.00030
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_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731 0.00030
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866 0.00030
NM_001113525.2(ZNF276):c.1679G>A (p.Gly560Asp) rs144644592 0.00030
NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu) rs139489941 0.00030
NM_005050.4(ABCD4):c.1637-10G>A rs201148020 0.00030
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) rs200145247 0.00030
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_017875.4(SLC25A38):c.*547C>T rs559766369 0.00030
NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala) rs141545606 0.00030
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209 0.00030
NM_138477.4(CDAN1):c.3204+5G>A rs201125492 0.00030
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.3333G>A (p.Thr1111=) rs200102606 0.00030
NM_206965.2(FTCD):c.959G>A (p.Arg320Gln) rs77740289 0.00030
NM_000037.4(ANK1):c.1503C>T (p.Thr501=) rs145793923 0.00029
NM_000037.4(ANK1):c.3984+9A>G rs369984591 0.00029
NM_000096.4(CP):c.*373C>G rs370247691 0.00029
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926 0.00029
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806 0.00029
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_000175.5(GPI):c.317G>A (p.Arg106Gln) rs143827313 0.00029
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000342.4(SLC4A1):c.*947C>G rs368389948 0.00029
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000617.3(SLC11A2):c.*716G>A rs571129669 0.00029
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_001018115.3(FANCD2):c.1134+8T>G rs373232961 0.00029
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) rs373461068 0.00029
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_001018115.3(FANCD2):c.4281+597C>T rs548255173 0.00029
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104 0.00029
NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp) rs151134377 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_001113525.2(ZNF276):c.*211C>G rs575606938 0.00029
NM_001386140.1(MTTP):c.-82C>T rs767201629 0.00029
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu) rs142696207 0.00029
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=) rs373690520 0.00029
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
NM_017875.4(SLC25A38):c.-69C>T rs886058470 0.00029
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys) rs146151355 0.00029
NM_030943.4(AMN):c.1258-14C>G rs767004707 0.00029
NM_032043.3(BRIP1):c.-237dup rs112243287 0.00029
NM_032043.3(BRIP1):c.173G>A (p.Cys58Tyr) rs749920386 0.00029
NM_032444.4(SLX4):c.*311G>A rs749668095 0.00029
NM_032444.4(SLX4):c.2210G>A (p.Arg737His) rs146901714 0.00029
NM_032444.4(SLX4):c.3663G>A (p.Ala1221=) rs760656992 0.00029
NM_138477.4(CDAN1):c.57G>C (p.Val19=) rs150418267 0.00029
NM_182916.3(TRNT1):c.462T>G (p.Thr154=) rs528296646 0.00029
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_000032.5(ALAS2):c.-34C>T rs780642606 0.00028
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936 0.00028
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_000355.4(TCN2):c.257+16C>G rs369577877 0.00028
NM_000373.4(UMPS):c.*4672C>T rs549550940 0.00028
NM_000375.3(UROS):c.106T>G (p.Leu36Val) rs200858139 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001014.5(RPS10):c.444C>T (p.Thr148=) rs149897629 0.00028
NM_001022.4(RPS19):c.1-13C>T rs200634600 0.00028
NM_001081.4(CUBN):c.9664-9T>G rs145383974 0.00028
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) rs149223439 0.00028
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_002049.4(GATA1):c.158C>A (p.Ala53Asp) rs142614402 0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181 0.00028
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=) rs781955031 0.00028
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=) rs146587686 0.00028
NM_006363.6(SEC23B):c.280-6T>C rs370880370 0.00028
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) rs201160833 0.00028
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936 0.00028
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr) rs753304968 0.00028
NM_032043.3(BRIP1):c.*1868G>T rs184666432 0.00028
NM_000136.3(FANCC):c.*431T>C rs550009657 0.00027
NM_000136.3(FANCC):c.166-7T>C rs369052148 0.00027
NM_001014.5(RPS10):c.-27C>A rs749286823 0.00027
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln) rs140787739 0.00027
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_003126.4(SPTA1):c.1266C>T (p.Tyr422=) rs369020197 0.00027
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=) rs377583331 0.00027
NM_005142.3(CBLIF):c.1074-10T>C rs375549830 0.00027
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_021922.3(FANCE):c.1116C>T (p.Ile372=) rs143234424 0.00027
NM_025215.6(PUS1):c.*152A>T rs188546423 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_032444.4(SLX4):c.-416G>A rs528320603 0.00027
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999 0.00026
NM_000037.4(ANK1):c.876G>A (p.Leu292=) rs373060967 0.00026
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000096.4(CP):c.2554+14C>T rs200965170 0.00026
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409 0.00026
NM_000096.4(CP):c.981G>A (p.Val327=) rs144467178 0.00026
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro) rs373385518 0.00026
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val) rs201901663 0.00026
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) rs149476106 0.00026
NM_000298.6(PKLR):c.6G>A (p.Ser2=) rs139697646 0.00026
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His) rs13306776 0.00026
NM_000355.4(TCN2):c.539T>C (p.Leu180Pro) rs142651651 0.00026
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser) rs144332316 0.00026
NM_001018115.3(FANCD2):c.1766+16C>T rs201040143 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_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_001113378.2(FANCI):c.1822-18C>T rs373603139 0.00026
NM_001114134.2(EPB42):c.1032T>C (p.Asp344=) rs150481419 0.00026
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser) rs143599352 0.00026
NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=) rs151204426 0.00026
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_015077.4(SARM1):c.*2699G>A rs41297123 0.00026
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn) rs148017562 0.00026
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys) rs146065064 0.00026
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln) rs758238449 0.00026
NM_022725.3(FANCF):c.-31T>C rs202069513 0.00026
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119 0.00026
NC_000011.10:g.5255348A>C rs866138115 0.00025
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000096.4(CP):c.2518C>G (p.Gln840Glu) rs142139927 0.00025
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu) rs62625015 0.00025
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys) rs142774813 0.00025
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698 0.00025
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys) rs374042346 0.00025
NM_001360016.2(G6PD):c.1052-4G>A rs372124193 0.00025
NM_001365304.2(LOC112694756):c.*1309-20G>A rs189723657 0.00025
NM_001374504.1(TMPRSS6):c.992C>T (p.Thr331Met) rs185482276 0.00025
NM_001386140.1(MTTP):c.-84T>C rs761717058 0.00025
NM_002454.3(MTRR):c.906T>C (p.Asn302=) rs144729918 0.00025
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_006947.4(SRP72):c.*624A>G rs867685822 0.00025
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_017875.4(SLC25A38):c.-225G>A rs370977005 0.00025
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln) rs141729590 0.00025
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_025215.6(PUS1):c.*164C>T rs554815640 0.00025
NM_025215.6(PUS1):c.1065G>T (p.Pro355=) rs147555676 0.00025
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp) rs556217576 0.00025
NM_033022.4(RPS24):c.306C>T (p.Thr102=) rs558975561 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_182916.3(TRNT1):c.148+14A>G rs374743708 0.00025
NM_000037.4(ANK1):c.2713G>A (p.Val905Met) rs141069023 0.00024
NM_000096.4(CP):c.716A>T (p.Tyr239Phe) rs145481253 0.00024
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571 0.00024
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_000375.3(UROS):c.740C>T (p.Thr247Met) rs199925121 0.00024
NM_000519.4(HBD):c.225C>T (p.Gly75=) rs113727122 0.00024
NM_000969.5(RPL5):c.408T>C (p.Asp136=) rs142297836 0.00024
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met) rs372574627 0.00024
NM_001022.3(RPS19):c.-288A>C rs192556926 0.00024
NM_001081.4(CUBN):c.9927C>G (p.Val3309=) rs202234356 0.00024
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656 0.00024
NM_001113525.2(ZNF276):c.1475-24A>G rs186050933 0.00024
NM_001114134.2(EPB42):c.10+91G>A rs150530456 0.00024
NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met) rs199787216 0.00024
NM_001271696.3(ABCB7):c.*113A>G rs916633787 0.00024
NM_001365304.2(LOC112694756):c.*1700C>T rs886051897 0.00024
NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu) rs375189210 0.00024
NM_003126.4(SPTA1):c.3188+8C>G rs199558386 0.00024
NM_003126.4(SPTA1):c.6549-4C>G rs199640503 0.00024
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn) rs547785696 0.00024
NM_020937.4(FANCM):c.4106A>T (p.Asn1369Ile) rs148154311 0.00024
NM_022725.4(FANCF):c.153T>A (p.His51Gln) rs142247452 0.00024
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg) rs146219377 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu) rs372128800 0.00024
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile) rs147315419 0.00024
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys) rs148547201 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys) rs181448047 0.00024
NM_138477.4(CDAN1):c.2869-5C>T rs370304543 0.00024
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr) rs192268080 0.00024
NM_182916.3(TRNT1):c.803-6C>T rs183382145 0.00024
NM_198253.3(TERT):c.*237C>T rs567092780 0.00024
NM_206965.2(FTCD):c.149C>T (p.Thr50Ile) rs199769706 0.00024
NM_206965.2(FTCD):c.600G>A (p.Ala200=) rs147306849 0.00024
NM_000037.4(ANK1):c.2097+15C>T rs200206750 0.00023
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000175.5(GPI):c.1497C>T (p.Phe499=) rs138799755 0.00023
NM_000186.4(CFH):c.3291G>A (p.Thr1097=) rs409953 0.00023
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176 0.00023
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509 0.00023
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala) rs148429884 0.00023
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=) rs560600678 0.00023
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=) rs145953386 0.00023
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) rs374019283 0.00023
NM_001114134.2(EPB42):c.556G>C (p.Gly186Arg) rs199634098 0.00023
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) rs148414435 0.00023
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673 0.00023
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693 0.00023
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=) rs530834583 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_015077.4(SARM1):c.*1108C>T rs782425144 0.00023
NM_017875.4(SLC25A38):c.*549G>A rs189387075 0.00023
NM_032043.3(BRIP1):c.*3465A>T rs539412199 0.00023
NM_138477.4(CDAN1):c.1058-11T>G rs372671684 0.00023
NM_138477.4(CDAN1):c.188G>A (p.Arg63His) rs772157159 0.00023
NM_138477.4(CDAN1):c.2088G>A (p.Leu696=) rs148759214 0.00023
NM_138477.4(CDAN1):c.2837G>A (p.Arg946Gln) rs142833783 0.00023
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) rs200263785 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000 0.00022
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 0.00022
NM_000289.6(PFKM):c.*452T>C rs563335260 0.00022
NM_000289.6(PFKM):c.1653+8C>T rs369425921 0.00022
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669 0.00022
NM_000298.6(PKLR):c.965+12G>A rs200039500 0.00022
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000617.3(SLC11A2):c.*1795G>A rs750648046 0.00022
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693 0.00022
NM_001011.4(RPS7):c.-104G>A rs371620447 0.00022
NM_001018115.3(FANCD2):c.3654A>G (p.Ala1218=) rs556548817 0.00022
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395 0.00022
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met) rs191202700 0.00022
NM_001113525.2(ZNF276):c.*1862C>T rs776077648 0.00022
NM_001113525.2(ZNF276):c.*209G>A rs556325258 0.00022
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_001374504.1(TMPRSS6):c.1493C>T (p.Pro498Leu) rs138915369 0.00022
NM_004629.2(FANCG):c.1453C>T (p.Arg485Trp) rs201884798 0.00022
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_006947.4(SRP72):c.*1385A>G rs754461786 0.00022
NM_018062.4(FANCL):c.155+9G>C rs370392756 0.00022
NM_018368.4(LMBRD1):c.1510-17C>T rs149064101 0.00022
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_022725.4(FANCF):c.647G>C (p.Arg216Pro) rs192534185 0.00022
NM_032444.4(SLX4):c.1065G>A (p.Gln355=) rs200183071 0.00022
NM_138477.4(CDAN1):c.2008-8C>T rs201733620 0.00022
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser) rs543791953 0.00022
NM_174936.4(PCSK9):c.*950C>T rs72646537 0.00022
NM_198253.3(TERT):c.*83G>A rs533940688 0.00022
NM_206965.2(FTCD):c.430G>A (p.Gly144Arg) rs138139105 0.00022
NM_206965.2(FTCD):c.623G>A (p.Arg208His) rs199508525 0.00022
NC_000017.11:g.58692541G>A rs545213879 0.00021
NM_000037.4(ANK1):c.*32G>A rs117166178 0.00021
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919 0.00021
NM_000037.4(ANK1):c.669G>A (p.Gln223=) rs375060699 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=) rs148880015 0.00021
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847 0.00021
NM_000096.4(CP):c.1487A>G (p.Asn496Ser) rs541708867 0.00021
NM_000096.4(CP):c.301A>G (p.Thr101Ala) rs148041351 0.00021
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) rs202107465 0.00021
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_000254.3(MTR):c.1215G>A (p.Gln405=) rs376048659 0.00021
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983 0.00021
NM_000355.4(TCN2):c.249C>T (p.Cys83=) rs151327362 0.00021
NM_000355.4(TCN2):c.522C>T (p.Ser174=) rs537115632 0.00021
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000617.3(SLC11A2):c.*1057C>T rs767436028 0.00021
NM_000975.5(RPL11):c.397-4A>G rs371228733 0.00021
NM_001018115.3(FANCD2):c.696-18T>G rs56083801 0.00021
NM_001040436.3(YARS2):c.*24A>G rs368305831 0.00021
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn) rs533512333 0.00021
NM_001081.4(CUBN):c.7508C>T (p.Pro2503Leu) rs140983139 0.00021
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001081.4(CUBN):c.9455-13T>C rs374390875 0.00021
NM_001113378.2(FANCI):c.3006+11C>T rs372049835 0.00021
NM_001374504.1(TMPRSS6):c.632-8C>T rs375234781 0.00021
NM_001386140.1(MTTP):c.*989T>C rs183510498 0.00021
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly) rs374589766 0.00021
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=) rs138296474 0.00021
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135 0.00021
NM_006363.6(SEC23B):c.279+18A>T rs769730409 0.00021
NM_006563.5(KLF1):c.-43G>A rs372359976 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) rs146897650 0.00021
NM_021922.3(FANCE):c.1316+10C>T rs200479051 0.00021
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro) rs950301098 0.00021
NM_021922.3(FANCE):c.970-16C>T rs117779586 0.00021
NM_022725.4(FANCF):c.687A>T (p.Ser229=) rs776140806 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_032043.3(BRIP1):c.852C>T (p.Val284=) rs144940449 0.00021
NM_032444.4(SLX4):c.-271G>A rs149773885 0.00021
NM_138477.4(CDAN1):c.2016G>A (p.Pro672=) rs371799686 0.00021
NM_182916.3(TRNT1):c.107A>T (p.Glu36Val) rs138682354 0.00021
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter) rs8133955 0.00021
NM_000037.4(ANK1):c.*385G>T rs1343502294 0.00020
NM_000037.4(ANK1):c.2096G>A (p.Arg699Gln) rs150032875 0.00020
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000136.3(FANCC):c.*587C>T rs190544450 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr) rs148897041 0.00020
NM_000254.3(MTR):c.639T>C (p.Phe213=) rs568734591 0.00020
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
NM_001002010.5(NT5C3A):c.139-9025G>T rs149839373 0.00020
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001063.4(TF):c.281A>G (p.Asn94Ser) rs200551981 0.00020
NM_001081.4(CUBN):c.6344A>G (p.Asn2115Ser) rs143835350 0.00020
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714 0.00020
NM_001113378.2(FANCI):c.1699-3C>G rs372441627 0.00020
NM_001142446.2(ANK1):c.127-39556C>T rs907195146 0.00020
NM_001360016.2(G6PD):c.486-14C>T rs200833520 0.00020
NM_001374504.1(TMPRSS6):c.1672+9T>C rs200801061 0.00020
NM_004629.2(FANCG):c.-7G>A rs772036778 0.00020
NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val) rs370902375 0.00020
NM_005334.3(HCFC1):c.4942+8C>T rs1013019333 0.00020
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=) rs200345511 0.00020
NM_006947.4(SRP72):c.294G>A (p.Leu98=) rs145137299 0.00020
NM_020937.4(FANCM):c.2267G>A (p.Arg756His) rs142763060 0.00020
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545 0.00020
NM_020937.4(FANCM):c.504G>C (p.Met168Ile) rs376316183 0.00020
NM_020937.4(FANCM):c.5205G>A (p.Ser1735=) rs138090463 0.00020
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_021922.3(FANCE):c.246G>A (p.Glu82=) rs769779495 0.00020
NM_022725.4(FANCF):c.465A>T (p.Pro155=) rs201215734 0.00020
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_032043.3(BRIP1):c.*2812A>G rs112375062 0.00020
NM_032444.4(SLX4):c.465A>G (p.Glu155=) rs138512851 0.00020
NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn) rs201076728 0.00020
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_000037.4(ANK1):c.*1952G>A rs886062931 0.00019
NM_000037.4(ANK1):c.3533-10G>A rs374510116 0.00019
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_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302 0.00019
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000135.4(FANCA):c.3912A>G (p.Ala1304=) rs545021222 0.00019
NM_000136.3(FANCC):c.*254G>A rs773331481 0.00019
NM_000136.3(FANCC):c.*476A>T rs756786451 0.00019
NM_000136.3(FANCC):c.-79+7G>T rs551170090 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000136.3(FANCC):c.355_358del (p.Ser119fs) rs750003253 0.00019
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000254.3(MTR):c.1075+7C>T rs202157685 0.00019
NM_000298.6(PKLR):c.*499G>A rs777573500 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_000365.6(TPI1):c.116-12T>C rs369077745 0.00019
NM_000373.4(UMPS):c.*3701C>T rs768769772 0.00019
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970 0.00019
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala) rs139025231 0.00019
NM_001022.3(RPS19):c.-50G>A rs886634767 0.00019
NM_001081.4(CUBN):c.10038C>T (p.His3346=) rs113079734 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.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met) rs140202552 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 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_001113378.2(FANCI):c.1399G>A (p.Val467Ile) rs199726965 0.00019
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro) rs554876309 0.00019
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile) rs142969866 0.00019
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) rs112387610 0.00019
NM_001113525.2(ZNF276):c.*251C>T rs55859244 0.00019
NM_001113525.2(ZNF276):c.*38C>T rs201817705 0.00019
NM_001113525.2(ZNF276):c.*69G>A rs17233804 0.00019
NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg) rs763683559 0.00019
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=) rs772550893 0.00019
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser) rs142957871 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_001386140.1(MTTP):c.799T>C (p.Leu267=) rs7672497 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_003126.4(SPTA1):c.6378G>T (p.Val2126=) rs141823269 0.00019
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln) rs199986349 0.00019
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=) rs138753274 0.00019
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) rs146699265 0.00019
NM_005142.3(CBLIF):c.964C>T (p.Leu322=) rs142491344 0.00019
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_005334.3(HCFC1):c.4942+11G>A rs782730900 0.00019
NM_005334.3(HCFC1):c.905-3C>T rs200367055 0.00019
NM_006996.3(SLC19A2):c.*638G>A rs757466309 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_015077.4(SARM1):c.1924-320C>T rs908290461 0.00019
NM_015077.4(SARM1):c.2156C>T (p.Ala719Val) rs146812537 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg) rs201807738 0.00019
NM_020897.3(HCN3):c.*1243A>G rs886045347 0.00019
NM_021922.3(FANCE):c.-197C>T rs45570533 0.00019
NM_021922.3(FANCE):c.-19G>C rs13215706 0.00019
NM_021922.3(FANCE):c.1114-4G>A rs368422520 0.00019
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met) rs147390386 0.00019
NM_022725.4(FANCF):c.21C>T (p.His7=) rs199867555 0.00019
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_032444.4(SLX4):c.*374C>T rs369843531 0.00019
NM_032444.4(SLX4):c.-21G>C rs200717103 0.00019
NM_032444.4(SLX4):c.1389A>G (p.Lys463=) rs376668879 0.00019
NM_032444.4(SLX4):c.1499C>T (p.Thr500Met) rs377440877 0.00019
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg) rs544935776 0.00019
NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del) rs199897550 0.00019
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val) rs372921011 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_182916.3(TRNT1):c.1057-5C>T rs111642741 0.00019
NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly) rs148398677 0.00019
NM_182916.3(TRNT1):c.482-16C>G rs200787934 0.00019
NM_000037.4(ANK1):c.528C>T (p.Ala176=) rs544906793 0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000175.5(GPI):c.1270-9G>A rs191051353 0.00018
NM_000289.6(PFKM):c.844-17T>A rs372870462 0.00018
NM_000355.4(TCN2):c.258-16A>G rs374013099 0.00018
NM_000355.4(TCN2):c.572A>G (p.His191Arg) rs151172486 0.00018
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_000373.4(UMPS):c.*3264G>A rs190423326 0.00018
NM_000373.4(UMPS):c.*4116G>A rs886057894 0.00018
NM_000969.5(RPL5):c.141C>T (p.Pro47=) rs150375325 0.00018
NM_000987.5(RPL26):c.342C>T (p.Asp114=) rs137965122 0.00018
NM_001018115.3(FANCD2):c.2142G>A (p.Pro714=) rs372215382 0.00018
NM_001081.4(CUBN):c.349-9T>C rs375431948 0.00018
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys) rs752163489 0.00018
NM_002049.4(GATA1):c.942A>G (p.Lys314=) rs150473615 0.00018
NM_002454.3(MTRR):c.904-4C>G rs370809675 0.00018
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_003126.4(SPTA1):c.345G>A (p.Arg115=) rs200343758 0.00018
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_003126.4(SPTA1):c.957+7C>T rs369937649 0.00018
NM_004629.2(FANCG):c.1144-17T>G rs367794913 0.00018
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) rs143347563 0.00018
NM_005236.3(ERCC4):c.2018-18C>G rs539818239 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_006947.4(SRP72):c.*558T>C rs568178342 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_018062.4(FANCL):c.142C>G (p.Leu48Val) rs148516173 0.00018
NM_018062.4(FANCL):c.580A>G (p.Ile194Val) rs542006141 0.00018
NM_030943.4(AMN):c.989C>A (p.Ala330Glu) rs542237999 0.00018
NM_032444.4(SLX4):c.2079C>T (p.Val693=) rs150206155 0.00018
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=) rs142851654 0.00018
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu) rs149362820 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_206965.2(FTCD):c.1260+9C>T rs373667711 0.00018
NM_206965.2(FTCD):c.161C>T (p.Pro54Leu) rs374193438 0.00018
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000096.4(CP):c.944A>G (p.Asn315Ser) rs370682704 0.00017
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
NM_000186.4(CFH):c.2675C>T (p.Ala892Val) rs151068461 0.00017
NM_000355.4(TCN2):c.940+11T>C rs202139921 0.00017
NM_000373.4(UMPS):c.*4065C>T rs759188574 0.00017
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_000969.5(RPL5):c.-48G>A rs376070413 0.00017
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile) rs188375397 0.00017
NM_001081.4(CUBN):c.*940A>G rs560609264 0.00017
NM_001081.4(CUBN):c.10181-16C>A rs190546478 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_001081.4(CUBN):c.7000+15A>T rs556690868 0.00017
NM_001360016.2(G6PD):c.381C>T (p.Ala127=) rs781997962 0.00017
NM_001374504.1(TMPRSS6):c.-1-218C>G rs576482552 0.00017
NM_001374504.1(TMPRSS6):c.1634G>A (p.Arg545Gln) rs150953057 0.00017
NM_003126.4(SPTA1):c.224T>C (p.Ile75Thr) rs146993090 0.00017
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) rs201844450 0.00017
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) rs201578135 0.00017
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala) rs201714172 0.00017
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026 0.00017
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006516.4(SLC2A1):c.972+17T>A rs202140308 0.00017
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser) rs149595229 0.00017
NM_015077.4(SARM1):c.1924-340G>T rs1046966571 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456 0.00017
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe) rs138274490 0.00017
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 0.00017
NM_021922.3(FANCE):c.-167C>T rs911947663 0.00017
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe) rs952309844 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_025215.6(PUS1):c.*120G>A rs569395844 0.00017
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val) rs142072030 0.00017
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_032444.4(SLX4):c.1809G>A (p.Ser603=) rs565202250 0.00017
NM_032444.4(SLX4):c.316C>T (p.Pro106Ser) rs534494633 0.00017
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp) rs758789462 0.00017
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=) rs142477564 0.00017
NM_033022.4(RPS24):c.90C>T (p.Pro30=) rs372043585 0.00017
NM_058216.3(RAD51C):c.258A>T (p.Thr86=) rs149228565 0.00017
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406 0.00017
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267 0.00017
NM_182916.3(TRNT1):c.482-3dup rs766154756 0.00017
NM_206965.2(FTCD):c.1007G>T (p.Gly336Val) rs540211579 0.00017
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) rs144821829 0.00016
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) rs147232364 0.00016
NM_000096.4(CP):c.261G>A (p.Pro87=) rs142440055 0.00016
NM_000096.4(CP):c.457G>A (p.Glu153Lys) rs138646392 0.00016
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000135.4(FANCA):c.1226-13G>C rs377159744 0.00016
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00016
NM_000135.4(FANCA):c.2504+6C>G rs749556479 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.3409-9C>G rs368943794 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000136.3(FANCC):c.*483A>G rs548064261 0.00016
NM_000254.3(MTR):c.13C>A (p.Leu5Ile) rs139083778 0.00016
NM_000254.3(MTR):c.3252C>T (p.Asp1084=) rs144429636 0.00016
NM_000254.3(MTR):c.3405+18C>T rs374485228 0.00016
NM_000342.4(SLC4A1):c.*544C>T rs910311843 0.00016
NM_000342.4(SLC4A1):c.-136C>T rs566359654 0.00016
NM_000342.4(SLC4A1):c.1671G>A (p.Val557=) rs147838240 0.00016
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000619.3(IFNG):c.*500C>T rs528060683 0.00016
NM_000975.5(RPL11):c.213C>T (p.His71=) rs562572818 0.00016
NM_000988.5(RPL27):c.403C>T (p.Arg135Trp) rs146328911 0.00016
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=) rs370078641 0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421 0.00016
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113 0.00016
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys) rs200971205 0.00016
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.2778T>G (p.Ser926Arg) rs371127860 0.00016
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter) rs145661597 0.00016
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=) rs200115233 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys) rs376641725 0.00016
NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter) rs137998687 0.00016
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg) rs146040966 0.00016
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met) rs374363189 0.00016
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=) rs150231327 0.00016
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg) rs555904350 0.00016
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_001113378.2(FANCI):c.882+15G>T rs199522855 0.00016
NM_001113525.2(ZNF276):c.*1674G>C rs56216970 0.00016
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met) rs563555492 0.00016
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr) rs144693278 0.00016
NM_001355436.2(SPTB):c.5680G>A (p.Gly1894Arg) rs116677071 0.00016
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His) rs368832453 0.00016
NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser) rs140207191 0.00016
NM_002049.4(GATA1):c.163G>A (p.Ala55Thr) rs150572851 0.00016
NM_002049.4(GATA1):c.871-7T>C rs371752832 0.00016
NM_002454.3(MTRR):c.463A>C (p.Arg155=) rs556611332 0.00016
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_003126.4(SPTA1):c.1396G>C (p.Asp466His) rs201669174 0.00016
NM_003126.4(SPTA1):c.2654G>A (p.Arg885His) rs370989483 0.00016
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys) rs199685020 0.00016
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp) rs199725919 0.00016
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val) rs149139488 0.00016
NM_005050.4(ABCD4):c.1539C>T (p.Asp513=) rs201456625 0.00016
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly) rs183607306 0.00016
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=) rs2020960 0.00016
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637 0.00016
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=) rs201943863 0.00016
NM_006516.4(SLC2A1):c.276-11C>T rs376422395 0.00016
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) rs144685583 0.00016
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) rs752204035 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_018062.4(FANCL):c.387G>A (p.Ala129=) rs141400460 0.00016
NM_018062.4(FANCL):c.97-11A>G rs201875132 0.00016
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00016
NM_020937.4(FANCM):c.2003-3T>C rs777799598 0.00016
NM_020937.4(FANCM):c.2518G>A (p.Val840Ile) rs374402732 0.00016
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His) rs201803784 0.00016
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe) rs185230199 0.00016
NM_022725.4(FANCF):c.837A>G (p.Thr279=) rs183269887 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_025215.6(PUS1):c.*122C>T rs747836180 0.00016
NM_030943.4(AMN):c.1343G>A (p.Gly448Glu) rs777560818 0.00016
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=) rs145504336 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032444.4(SLX4):c.2628C>T (p.Asp876=) rs201279467 0.00016
NM_032444.4(SLX4):c.3758C>T (p.Thr1253Ile) rs202148391 0.00016
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192 0.00016
NM_032444.4(SLX4):c.4033C>T (p.Arg1345Cys) rs200310925 0.00016
NM_032444.4(SLX4):c.4649G>A (p.Arg1550Gln) rs369852048 0.00016
NM_032444.4(SLX4):c.653G>C (p.Arg218Thr) rs756079504 0.00016
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_058216.3(RAD51C):c.744T>C (p.Phe248=) rs150142859 0.00016
NM_206965.2(FTCD):c.1206G>A (p.Ser402=) rs376754467 0.00016
NM_206965.2(FTCD):c.1371G>A (p.Thr457=) rs544253281 0.00016
NM_206965.2(FTCD):c.1448C>T (p.Ala483Val) rs145609043 0.00016
NM_206965.2(FTCD):c.368-15C>T rs368792878 0.00016
NM_206965.2(FTCD):c.571G>A (p.Gly191Ser) rs376603123 0.00016
NM_206965.2(FTCD):c.906+8G>A rs375796852 0.00016
NM_000059.4(BRCA2):c.*390A>G rs56003538 0.00015
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
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_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753 0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000135.4(FANCA):c.79+10C>T rs573174362 0.00015
NM_000342.4(SLC4A1):c.*1273G>T rs769140134 0.00015
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 0.00015
NM_000373.4(UMPS):c.1273+14C>T rs374339942 0.00015
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882 0.00015
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) rs745841768 0.00015
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val) rs138587722 0.00015
NM_001018115.3(FANCD2):c.888+9T>C rs777620616 0.00015
NM_001081.4(CUBN):c.*162G>A rs558891678 0.00015
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=) rs750798030 0.00015
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln) rs140281371 0.00015
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile) rs146651264 0.00015
NM_001376013.1(EPB41):c.2229C>T (p.Ala743=) rs117306261 0.00015
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) rs200081632 0.00015
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=) rs370379881 0.00015
NM_006947.4(SRP72):c.*635C>T rs200981113 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_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) rs149348098 0.00015
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr) rs376197752 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_032043.3(BRIP1):c.*3827T>C rs1377513104 0.00015
NM_032444.4(SLX4):c.3315C>T (p.Ser1105=) rs183029626 0.00015
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287 0.00015
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=) rs577770118 0.00015
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_033022.4(RPS24):c.189T>C (p.His63=) rs201805132 0.00015
NM_206965.2(FTCD):c.1443+12C>T rs767969299 0.00015
NM_000037.4(ANK1):c.*795A>G rs191346232 0.00014
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) rs112677283 0.00014
NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln) rs140231188 0.00014
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) rs150975400 0.00014
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970 0.00014
NM_000096.4(CP):c.1458C>T (p.Asn486=) rs144537170 0.00014
NM_000135.4(FANCA):c.-18G>A rs886038245 0.00014
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000135.4(FANCA):c.3240-11C>G rs138826926 0.00014
NM_000136.3(FANCC):c.*249C>T rs1046795121 0.00014
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000186.4(CFH):c.472G>A (p.Val158Ile) rs141852866 0.00014
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser) rs140956566 0.00014
NM_000254.3(MTR):c.1855G>C (p.Val619Leu) rs557853306 0.00014
NM_000254.3(MTR):c.2474-19_2474-15del rs781239294 0.00014
NM_000355.4(TCN2):c.331G>A (p.Ala111Thr) rs778150805 0.00014
NM_000373.4(UMPS):c.*2230C>T rs565272396 0.00014
NM_000617.3(SLC11A2):c.*2332A>T rs575495762 0.00014
NM_000637.5(GSR):c.1500G>A (p.Thr500=) rs368833049 0.00014
NM_001011.4(RPS7):c.*31C>T rs191506876 0.00014
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650 0.00014
NM_001018113.3(FANCB):c.960T>G (p.Ala320=) rs139045247 0.00014
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=) rs61751577 0.00014
NM_001018115.3(FANCD2):c.571-19A>T rs141566218 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.1112-12A>G rs762175932 0.00014
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr) rs368630481 0.00014
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly) rs750735519 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.8913C>T (p.Ser2971=) rs370685424 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_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001113378.2(FANCI):c.-10A>G rs372076895 0.00014
NM_001113378.2(FANCI):c.882+10A>G rs370227185 0.00014
NM_001114134.2(EPB42):c.1165A>C (p.Ile389Leu) rs141596199 0.00014
NM_001114134.2(EPB42):c.1779+7A>G rs200770579 0.00014
NM_001114636.1(FANCL):c.-26T>A rs367703311 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_001365304.2(LOC112694756):c.*1308+12A>G rs200733968 0.00014
NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp) rs140758411 0.00014
NM_001374504.1(TMPRSS6):c.411A>G (p.Gly137=) rs375681801 0.00014
NM_001386140.1(MTTP):c.*436A>G rs1450371659 0.00014
NM_002049.4(GATA1):c.1045G>A (p.Val349Met) rs199710067 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln) rs564887323 0.00014
NM_003126.4(SPTA1):c.749G>A (p.Arg250His) rs759192785 0.00014
NM_004629.2(FANCG):c.-1C>T rs587777946 0.00014
NM_004629.2(FANCG):c.399G>A (p.Pro133=) rs200278002 0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_005050.4(ABCD4):c.719+6T>C rs755014125 0.00014
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=) rs200715555 0.00014
NM_005236.3(ERCC4):c.471A>G (p.Lys157=) rs3136092 0.00014
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 0.00014
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332 0.00014
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=) rs372258214 0.00014
NM_005334.3(HCFC1):c.6069-5C>T rs782321258 0.00014
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) rs149998596 0.00014
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu) rs199685739 0.00014
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) rs770374931 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu) rs201601241 0.00014
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_020897.3(HCN3):c.*1374T>C rs180944719 0.00014
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930 0.00014
NM_020937.4(FANCM):c.291C>G (p.His97Gln) rs369609574 0.00014
NM_020937.4(FANCM):c.30G>A (p.Gln10=) rs145745979 0.00014
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile) rs143152888 0.00014
NM_020937.4(FANCM):c.5341-19G>A rs375732305 0.00014
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_030943.4(AMN):c.1086G>A (p.Ala362=) rs959195796 0.00014
NM_030943.4(AMN):c.603C>A (p.Gly201=) rs535197788 0.00014
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_032043.3(BRIP1):c.595C>T (p.Leu199=) rs144969738 0.00014
NM_032444.4(SLX4):c.-398G>A rs559269050 0.00014
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val) rs200178217 0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_182916.3(TRNT1):c.787G>A (p.Val263Met) rs201873697 0.00014
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_000037.4(ANK1):c.2982G>A (p.Pro994=) rs139623406 0.00013
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000096.3(CP):c.-165C>T rs536533840 0.00013
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000186.4(CFH):c.388G>A (p.Asp130Asn) rs147002633 0.00013
NM_000254.3(MTR):c.2043+10A>G rs375005444 0.00013
NM_000254.3(MTR):c.2405+13C>T rs761948163 0.00013
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro) rs111465715 0.00013
NM_000254.3(MTR):c.35-19A>G rs372886393 0.00013
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000 0.00013
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480 0.00013
NM_000342.4(SLC4A1):c.876+14G>A rs571092411 0.00013
NM_000355.4(TCN2):c.428-15T>C rs371761297 0.00013
NM_000355.4(TCN2):c.580+16C>T rs200683293 0.00013
NM_000355.4(TCN2):c.756C>G (p.Phe252Leu) rs142553702 0.00013
NM_000365.6(TPI1):c.543+6C>T rs369693539 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_000969.5(RPL5):c.-18C>A rs201295012 0.00013
NM_000975.5(RPL11):c.6+19G>T rs563555270 0.00013
NM_001002010.5(NT5C3A):c.354+6C>A rs572060959 0.00013
NM_001014.5(RPS10):c.351C>T (p.Leu117=) rs376353902 0.00013
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=) rs141824395 0.00013
NM_001018115.3(FANCD2):c.206-20C>A rs200170760 0.00013
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_001018115.3(FANCD2):c.2976+6T>C rs201875004 0.00013
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) rs190043383 0.00013
NM_001063.4(TF):c.227C>T (p.Ala76Val) rs41298977 0.00013
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys) rs375920680 0.00013
NM_001081.4(CUBN):c.5459A>G (p.Tyr1820Cys) rs139369652 0.00013
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=) rs147934193 0.00013
NM_001113378.2(FANCI):c.3677C>T (p.Thr1226Met) rs367665900 0.00013
NM_001113525.2(ZNF276):c.*105C>T rs557319516 0.00013
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile) rs142759891 0.00013
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His) rs201794043 0.00013
NM_001360016.2(G6PD):c.375G>C (p.Met125Ile) rs782130334 0.00013
NM_001360016.2(G6PD):c.738C>T (p.Arg246=) rs144341068 0.00013
NM_001365304.2(LOC112694756):c.*1680C>T rs886051896 0.00013
NM_001374504.1(TMPRSS6):c.1338G>A (p.Ser446=) rs776737568 0.00013
NM_002454.3(MTRR):c.138A>G (p.Leu46=) rs200682655 0.00013
NM_004629.2(FANCG):c.-56G>A rs967151809 0.00013
NM_004629.2(FANCG):c.1367A>T (p.His456Leu) rs148808709 0.00013
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser) rs201664321 0.00013
NM_005050.4(ABCD4):c.867C>T (p.Ile289=) rs138775118 0.00013
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175 0.00013
NM_005334.3(HCFC1):c.1605+16T>G rs375698764 0.00013
NM_005334.3(HCFC1):c.6005-18C>G rs781820710 0.00013
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_006363.6(SEC23B):c.1993-16G>A rs375390042 0.00013
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00013
NM_015077.4(SARM1):c.*235T>C rs762983414 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_015702.3(MMADHC):c.-60G>A rs886054923 0.00013
NM_015702.3(MMADHC):c.10-9C>G rs376032730 0.00013
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078 0.00013
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu) rs149726602 0.00013
NM_018368.4(LMBRD1):c.*125A>G rs886061689 0.00013
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val) rs140727621 0.00013
NM_020897.3(HCN3):c.*1068G>A rs528740550 0.00013
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg) rs547223696 0.00013
NM_020937.4(FANCM):c.3432C>T (p.Phe1144=) rs374047969 0.00013
NM_020937.4(FANCM):c.4187C>T (p.Pro1396Leu) rs762637141 0.00013
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys) rs139074680 0.00013
NM_021922.3(FANCE):c.-100C>T rs374493565 0.00013
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg) rs148638909 0.00013
NM_021922.3(FANCE):c.903G>C (p.Gly301=) rs781287698 0.00013
NM_022725.4(FANCF):c.*2074A>G rs576419372 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_032444.4(SLX4):c.*578G>A rs781322530 0.00013
NM_032444.4(SLX4):c.2226C>T (p.Asp742=) rs376261173 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_206965.2(FTCD):c.1614C>T (p.Thr538=) rs138620208 0.00013
NM_206965.2(FTCD):c.476C>T (p.Ala159Val) rs200652518 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val) rs550821697 0.00012
NM_000135.4(FANCA):c.1776+11G>A rs377308050 0.00012
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000298.6(PKLR):c.1117-13C>T rs145132664 0.00012
NM_000355.4(TCN2):c.*18C>T rs371703966 0.00012
NM_000355.4(TCN2):c.500A>T (p.His167Leu) rs200303429 0.00012
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 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_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000617.3(SLC11A2):c.*153A>G rs146016854 0.00012
NM_000617.3(SLC11A2):c.1348-10T>C rs189993499 0.00012
NM_000996.4(RPL35A):c.-32-3A>G rs200335648 0.00012
NM_001018115.3(FANCD2):c.378-4A>G rs75087355 0.00012
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467 0.00012
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr) rs201589187 0.00012
NM_001081.4(CUBN):c.348+2T>C rs146047781 0.00012
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=) rs199627578 0.00012
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe) rs199502679 0.00012
NM_001113525.2(ZNF276):c.*1313A>G rs368376237 0.00012
NM_001113525.2(ZNF276):c.*471G>C rs368506826 0.00012
NM_001114636.1(FANCL):c.-35C>T rs368688452 0.00012
NM_001360016.2(G6PD):c.1458-12G>A rs369024848 0.00012
NM_001386140.1(MTTP):c.*468A>C rs556582995 0.00012
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_002693.3(POLG):c.*100G>A rs770839560 0.00012
NM_002693.3(POLG):c.3644-16T>C rs536522307 0.00012
NM_003126.4(SPTA1):c.4418C>T (p.Thr1473Met) rs187916559 0.00012
NM_005142.3(CBLIF):c.*87G>A rs575272147 0.00012
NM_005142.3(CBLIF):c.79+3G>A rs146396839 0.00012
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) rs782484757 0.00012
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189 0.00012
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=) rs370113081 0.00012
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624 0.00012
NM_006363.6(SEC23B):c.*494T>C rs561479544 0.00012
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile) rs202187007 0.00012
NM_015077.4(SARM1):c.*2294C>T rs151184490 0.00012
NM_015077.4(SARM1):c.*734G>T rs782382359 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys) rs186197572 0.00012
NM_020937.4(FANCM):c.538A>G (p.Ile180Val) rs151248588 0.00012
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_020937.4(FANCM):c.934G>A (p.Ala312Thr) rs189856413 0.00012
NM_021922.3(FANCE):c.926C>T (p.Pro309Leu) rs151020666 0.00012
NM_022725.4(FANCF):c.*1630G>A rs559054290 0.00012
NM_032043.3(BRIP1):c.*2656A>G rs1052477488 0.00012
NM_032043.3(BRIP1):c.*4053T>C rs191840743 0.00012
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=) rs61754142 0.00012
NM_032444.4(SLX4):c.2235C>T (p.Thr745=) rs75184268 0.00012
NM_032444.4(SLX4):c.2620G>A (p.Gly874Ser) rs113420526 0.00012
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu) rs373586019 0.00012
NM_032444.4(SLX4):c.4445G>A (p.Cys1482Tyr) rs148856258 0.00012
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly) rs375451955 0.00012
NM_138477.4(CDAN1):c.-8C>T rs764807565 0.00012
NM_138477.4(CDAN1):c.1822C>T (p.Pro608Ser) rs146810840 0.00012
NM_138477.4(CDAN1):c.2801G>A (p.Arg934Gln) rs199753863 0.00012
NM_138477.4(CDAN1):c.3267C>T (p.Leu1089=) rs778218831 0.00012
NM_206965.2(FTCD):c.593G>A (p.Arg198His) rs142358848 0.00012
NM_206965.2(FTCD):c.677T>C (p.Leu226Pro) rs149445900 0.00012
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=) rs755219802 0.00011
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) rs140964621 0.00011
NM_000037.4(ANK1):c.3984+12C>T rs200019819 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
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.1895C>T (p.Pro632Leu) rs200706325 0.00011
NM_000096.4(CP):c.2926G>A (p.Val976Met) rs192063766 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_000135.4(FANCA):c.105T>C (p.Tyr35=) rs747928827 0.00011
NM_000135.4(FANCA):c.1471-20G>A rs374579239 0.00011
NM_000135.4(FANCA):c.1536A>C (p.Ser512=) rs766580461 0.00011
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
NM_000135.4(FANCA):c.2842G>C (p.Asp948His) rs778254482 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_000135.4(FANCA):c.3168C>T (p.Leu1056=) rs377633991 0.00011
NM_000135.4(FANCA):c.709+20C>T rs368328886 0.00011
NM_000136.3(FANCC):c.*984G>A rs3780559 0.00011
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000136.3(FANCC):c.1534-9T>C rs536836859 0.00011
NM_000136.3(FANCC):c.250+16G>A rs371993188 0.00011
NM_000136.3(FANCC):c.522-4A>G rs371422485 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 0.00011
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp) rs140183705 0.00011
NM_000254.3(MTR):c.2658G>A (p.Ala886=) rs142537384 0.00011
NM_000254.3(MTR):c.3204+9G>A rs769109539 0.00011
NM_000289.6(PFKM):c.*3C>T rs367783282 0.00011
NM_000289.6(PFKM):c.1063-5C>T rs758178966 0.00011
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842 0.00011
NM_000289.6(PFKM):c.638+15C>A rs376150217 0.00011
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) rs200695047 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_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 0.00011
NM_000996.4(RPL35A):c.*6C>T rs116874993 0.00011
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala) rs141651499 0.00011
NM_001011.4(RPS7):c.459C>G (p.Leu153=) rs777622518 0.00011
NM_001018113.3(FANCB):c.*151A>G rs1480015600 0.00011
NM_001018115.3(FANCD2):c.2765A>G (p.His922Arg) rs1039845680 0.00011
NM_001018115.3(FANCD2):c.4281+81G>A rs145889419 0.00011
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) rs137922867 0.00011
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186 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.1947+18G>A rs374436643 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_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616 0.00011
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00011
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=) rs567952571 0.00011
NM_001114134.2(EPB42):c.1058C>T (p.Ala353Val) rs555199291 0.00011
NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser) rs369068948 0.00011
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_001360016.2(G6PD):c.121-20A>T rs782444702 0.00011
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met) rs754693915 0.00011
NM_002454.3(MTRR):c.198C>T (p.Pro66=) rs776410065 0.00011
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg) rs996966324 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_003126.4(SPTA1):c.4936C>T (p.Leu1646Phe) rs772331386 0.00011
NM_005050.4(ABCD4):c.555C>T (p.Leu185=) rs188108983 0.00011
NM_005142.3(CBLIF):c.256+10C>T rs369960390 0.00011
NM_005142.3(CBLIF):c.750G>A (p.Thr250=) rs377432418 0.00011
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
NM_005236.3(ERCC4):c.389-9C>A rs369626998 0.00011
NM_005236.3(ERCC4):c.793-13A>T rs201159142 0.00011
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=) rs182541172 0.00011
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln) rs1273500868 0.00011
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932 0.00011
NM_006363.6(SEC23B):c.835-11C>T rs370797703 0.00011
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys) rs375436807 0.00011
NM_006947.4(SRP72):c.623G>A (p.Arg208His) rs369761160 0.00011
NM_007055.4(POLR3A):c.-103T>A rs117201371 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_015077.4(SARM1):c.*1978G>T rs141940033 0.00011
NM_015077.4(SARM1):c.*2121C>T rs781824816 0.00011
NM_015077.4(SARM1):c.*502C>T rs1028128966 0.00011
NM_015077.4(SARM1):c.1924-1053A>T rs781937251 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_017875.4(SLC25A38):c.*404G>A rs886058473 0.00011
NM_017875.4(SLC25A38):c.-227G>A rs886058468 0.00011
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys) rs200791957 0.00011
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) rs531290475 0.00011
NM_018062.4(FANCL):c.1020+15T>C rs201733792 0.00011
NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn) rs544425912 0.00011
NM_018062.4(FANCL):c.706A>G (p.Ile236Val) rs762904548 0.00011
NM_018368.4(LMBRD1):c.1189-15C>G rs774156278 0.00011
NM_020937.4(FANCM):c.1812C>T (p.Asn604=) rs377473850 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_020937.4(FANCM):c.5901T>C (p.Ser1967=) rs375558533 0.00011
NM_020937.4(FANCM):c.6096A>G (p.Ile2032Met) rs139343255 0.00011
NM_020937.4(FANCM):c.954G>A (p.Arg318=) rs763895177 0.00011
NM_022725.4(FANCF):c.*1420A>G rs414664 0.00011
NM_022725.4(FANCF):c.1054T>C (p.Leu352=) rs61752917 0.00011
NM_024675.4(PALB2):c.1455T>G (p.Thr485=) rs566105533 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857 0.00011
NM_032043.3(BRIP1):c.1089C>T (p.Asp363=) rs139701369 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_032444.4(SLX4):c.1925-13A>T rs201324113 0.00011
NM_032444.4(SLX4):c.2053G>A (p.Val685Ile) rs371002922 0.00011
NM_032444.4(SLX4):c.2160+8C>T rs374004875 0.00011
NM_032444.4(SLX4):c.2241C>T (p.Ala747=) rs143790956 0.00011
NM_032444.4(SLX4):c.2335G>A (p.Val779Met) rs768126392 0.00011
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys) rs770020510 0.00011
NM_032444.4(SLX4):c.2958C>G (p.Leu986=) rs148111699 0.00011
NM_032444.4(SLX4):c.4903A>G (p.Lys1635Glu) rs140417509 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_032444.4(SLX4):c.921C>T (p.Asn307=) rs370468973 0.00011
NM_058216.3(RAD51C):c.*25C>G rs28363336 0.00011
NM_138477.4(CDAN1):c.1066G>A (p.Glu356Lys) rs185031946 0.00011
NM_138477.4(CDAN1):c.2947+9C>A rs372998688 0.00011
NM_138477.4(CDAN1):c.29G>A (p.Arg10Gln) rs910234195 0.00011
NM_182916.3(TRNT1):c.148+17C>T rs200220844 0.00011
NM_182916.3(TRNT1):c.259A>G (p.Thr87Ala) rs140935012 0.00011
NM_182916.3(TRNT1):c.500T>C (p.Phe167Ser) rs145784140 0.00011
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_206965.2(FTCD):c.129C>T (p.Ser43=) rs774812132 0.00011
NM_206965.2(FTCD):c.1352C>T (p.Pro451Leu) rs376845160 0.00011
NM_206965.2(FTCD):c.774+19G>A rs369593831 0.00011
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) rs753156183 0.00010
NM_000037.4(ANK1):c.2389-10C>T rs764935260 0.00010
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000096.4(CP):c.1357A>G (p.Ile453Val) rs145762017 0.00010
NM_000096.4(CP):c.1927G>A (p.Val643Met) rs143775161 0.00010
NM_000096.4(CP):c.929G>A (p.Arg310His) rs202217551 0.00010
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) rs747322973 0.00010
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581 0.00010
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) rs376888740 0.00010
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) rs1055448646 0.00010
NM_000135.4(FANCA):c.3348+12G>A rs374973869 0.00010
NM_000135.4(FANCA):c.342C>T (p.Ala114=) rs777989691 0.00010
NM_000135.4(FANCA):c.3711C>G (p.Val1237=) rs776879032 0.00010
NM_000135.4(FANCA):c.634A>C (p.Arg212=) rs754839730 0.00010
NM_000135.4(FANCA):c.924C>T (p.Gly308=) rs143255238 0.00010
NM_000136.3(FANCC):c.*1332A>G rs191983554 0.00010
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511 0.00010
NM_000136.3(FANCC):c.896+6C>T rs199525333 0.00010
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu) rs576819823 0.00010
NM_000254.3(MTR):c.3552C>T (p.Thr1184=) rs760793648 0.00010
NM_000254.3(MTR):c.68A>G (p.Asn23Ser) rs760845484 0.00010
NM_000254.3(MTR):c.866-10C>G rs368755647 0.00010
NM_000289.6(PFKM):c.-17G>C rs952485517 0.00010
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218 0.00010
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702 0.00010
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890 0.00010
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys) rs201701227 0.00010
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_000365.6(TPI1):c.-11G>A rs199634350 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_000398.7(CYB5R3):c.575G>A (p.Arg192His) rs200581263 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000519.4(HBD):c.*59C>G rs755421119 0.00010
NM_000617.3(SLC11A2):c.-50G>A rs886049570 0.00010
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 0.00010
NM_001011.4(RPS7):c.102G>A (p.Ser34=) rs754617897 0.00010
NM_001014.5(RPS10):c.1-3C>G rs375500787 0.00010
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001018113.3(FANCB):c.801A>C (p.Ser267=) rs773005941 0.00010
NM_001018115.3(FANCD2):c.165A>G (p.Ser55=) rs543455922 0.00010
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=) rs200118565 0.00010
NM_001040436.3(YARS2):c.*142T>C rs190589666 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.2177G>A (p.Gly726Glu) rs767277942 0.00010
NM_001081.4(CUBN):c.3084C>T (p.Ser1028=) rs775668389 0.00010
NM_001081.4(CUBN):c.323G>A (p.Ser108Asn) rs543983858 0.00010
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His) rs151039810 0.00010
NM_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu) rs201374966 0.00010
NM_001081.4(CUBN):c.7000+14T>A rs768710639 0.00010
NM_001081.4(CUBN):c.7211-17T>C rs770229291 0.00010
NM_001081.4(CUBN):c.7299C>T (p.Asp2433=) rs201002903 0.00010
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val) rs141879625 0.00010
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys) rs144419129 0.00010
NM_001113378.2(FANCI):c.2890-13C>T rs377269890 0.00010
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) rs112932178 0.00010
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) rs200111236 0.00010
NM_001360016.2(G6PD):c.957C>T (p.Thr319=) rs199702562 0.00010
NM_001360016.2(G6PD):c.990C>T (p.Arg330=) rs782064465 0.00010
NM_001365304.2(LOC112694756):c.*1676T>G rs886051895 0.00010
NM_001386140.1(MTTP):c.1149T>C (p.Ser383=) rs374820674 0.00010
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) rs199537553 0.00010
NM_002454.3(MTRR):c.1020C>T (p.Cys340=) rs201348649 0.00010
NM_002454.3(MTRR):c.904-19dup rs1554003810 0.00010
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn) rs200529208 0.00010
NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro) rs200308788 0.00010
NM_004629.2(FANCG):c.*250C>T rs535188841 0.00010
NM_004629.2(FANCG):c.1454G>A (p.Arg485Gln) rs77152961 0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_004629.2(FANCG):c.729T>C (p.Pro243=) rs199736443 0.00010
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=) rs542032495 0.00010
NM_005050.4(ABCD4):c.756G>A (p.Arg252=) rs149632647 0.00010
NM_005142.3(CBLIF):c.1107C>T (p.Val369=) rs537424617 0.00010
NM_005236.3(ERCC4):c.1102+13G>T rs199772721 0.00010
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) rs368119827 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln) rs142527605 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_006563.5(KLF1):c.*311A>G rs767532783 0.00010
NM_006947.4(SRP72):c.110-5T>G rs186908289 0.00010
NM_006996.3(SLC19A2):c.*1928T>C rs776987873 0.00010
NM_015077.4(SARM1):c.1924-208G>C rs886052738 0.00010
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_018062.4(FANCL):c.246C>G (p.Ser82Arg) rs374675609 0.00010
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln) rs142110072 0.00010
NM_018062.4(FANCL):c.846A>G (p.Gln282=) rs535158133 0.00010
NM_018368.4(LMBRD1):c.*384A>C rs536469891 0.00010
NM_018368.4(LMBRD1):c.406-6A>C rs373257303 0.00010
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr) rs376081191 0.00010
NM_020937.4(FANCM):c.1849C>G (p.Gln617Glu) rs138201476 0.00010
NM_020937.4(FANCM):c.2760G>A (p.Pro920=) rs145506906 0.00010
NM_020937.4(FANCM):c.2889C>T (p.Phe963=) rs544323144 0.00010
NM_021922.3(FANCE):c.59C>T (p.Ala20Val) rs927154227 0.00010
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter) rs201285915 0.00010
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu) rs374572943 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_025215.6(PUS1):c.111C>T (p.Pro37=) rs543944505 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_032444.4(SLX4):c.*168T>G rs886051975 0.00010
NM_032444.4(SLX4):c.1563T>C (p.Pro521=) rs146360238 0.00010
NM_032444.4(SLX4):c.1602C>T (p.Ser534=) rs201754095 0.00010
NM_032444.4(SLX4):c.1911G>T (p.Ser637=) rs200013924 0.00010
NM_032444.4(SLX4):c.3438C>T (p.Asn1146=) rs78541095 0.00010
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His) rs139544666 0.00010
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp) rs777967898 0.00010
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg) rs201533738 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_080669.6(SLC46A1):c.-67G>T rs782796764 0.00010
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211 0.00010
NM_138477.4(CDAN1):c.2007+10C>T rs372645598 0.00010
NM_138477.4(CDAN1):c.2197A>C (p.Ser733Arg) rs150491625 0.00010
NM_138477.4(CDAN1):c.2541+14G>A rs199780617 0.00010
NM_138477.4(CDAN1):c.3169C>T (p.Leu1057=) rs61746359 0.00010
NM_206965.2(FTCD):c.1291del (p.Glu431fs) rs775788856 0.00010
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000037.4(ANK1):c.483G>A (p.Ala161=) rs200639644 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000096.4(CP):c.2260G>A (p.Glu754Lys) rs377373314 0.00009
NM_000096.4(CP):c.3021C>G (p.His1007Gln) rs775322417 0.00009
NM_000096.4(CP):c.720C>T (p.Cys240=) rs141646117 0.00009
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) rs369988875 0.00009
NM_000135.4(FANCA):c.1567-6C>T rs377706883 0.00009
NM_000135.4(FANCA):c.1771C>G (p.Arg591Gly) rs753980264 0.00009
NM_000135.4(FANCA):c.1776+13C>T rs371272310 0.00009
NM_000135.4(FANCA):c.189+12C>G rs753101174 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu) rs373147908 0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His) rs145552439 0.00009
NM_000135.4(FANCA):c.2376T>C (p.Gly792=) rs756138062 0.00009
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile) rs774863156 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376 0.00009
NM_000135.4(FANCA):c.3239+20G>C rs755548646 0.00009
NM_000135.4(FANCA):c.3348+11C>T rs367624518 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 0.00009
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274 0.00009
NM_000136.3(FANCC):c.*267G>A rs769817519 0.00009
NM_000136.3(FANCC):c.1073-5C>T rs375613884 0.00009
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) rs766809608 0.00009
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00009
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) rs539583288 0.00009
NM_000186.4(CFH):c.3045T>C (p.Thr1015=) rs147864267 0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_000254.3(MTR):c.2013C>T (p.Val671=) rs147141232 0.00009
NM_000254.3(MTR):c.2686C>T (p.Leu896=) rs147762307 0.00009
NM_000254.3(MTR):c.3007+20C>A rs149877608 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000254.3(MTR):c.355A>G (p.Met119Val) rs538707626 0.00009
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708 0.00009
NM_000289.6(PFKM):c.597C>T (p.His199=) rs554169766 0.00009
NM_000289.6(PFKM):c.747+10C>T rs1372921221 0.00009
NM_000342.4(SLC4A1):c.*1409T>C rs891382961 0.00009
NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu) rs201228206 0.00009
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met) rs143131877 0.00009
NM_000355.4(TCN2):c.*520T>C rs953408654 0.00009
NM_000355.4(TCN2):c.1056G>A (p.Gly352=) rs370869901 0.00009
NM_000355.4(TCN2):c.184A>G (p.Ser62Gly) rs145474456 0.00009
NM_000355.4(TCN2):c.427+18G>A rs373712632 0.00009
NM_000355.4(TCN2):c.883G>A (p.Val295Ile) rs770684965 0.00009
NM_000373.4(UMPS):c.*1192C>T rs771857226 0.00009
NM_000373.4(UMPS):c.*348C>T rs186337218 0.00009
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107 0.00009
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_000617.3(SLC11A2):c.-39G>A rs751410203 0.00009
NM_000619.3(IFNG):c.285C>T (p.Thr95=) rs142375196 0.00009
NM_001011.4(RPS7):c.357-10A>G rs202032908 0.00009
NM_001018113.3(FANCB):c.-111A>G rs185118376 0.00009
NM_001018113.3(FANCB):c.-232G>A rs756766337 0.00009
NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu) rs370248837 0.00009
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784 0.00009
NM_001018113.3(FANCB):c.414T>A (p.Asn138Lys) rs201281219 0.00009
NM_001018115.3(FANCD2):c.2348G>A (p.Cys783Tyr) rs763986919 0.00009
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro) rs150075366 0.00009
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=) rs375929975 0.00009
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=) rs780547790 0.00009
NM_001029.5(RPS26):c.312G>A (p.Ala104=) rs145976784 0.00009
NM_001040436.3(YARS2):c.*627A>T rs886049303 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 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.10351G>A (p.Asp3451Asn) rs145661638 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.2894A>G (p.Gln965Arg) rs147955566 0.00009
NM_001081.4(CUBN):c.2961C>T (p.Asn987=) rs148712017 0.00009
NM_001081.4(CUBN):c.3672+18A>C rs752240965 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.614C>T (p.Thr205Met) rs374652141 0.00009
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met) rs537292240 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) rs376118603 0.00009
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp) rs551046401 0.00009
NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys) rs201468340 0.00009
NM_001113378.2(FANCI):c.165C>T (p.Pro55=) rs139039885 0.00009
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile) rs140965103 0.00009
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg) rs200026076 0.00009
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln) rs782065240 0.00009
NM_001365304.2(LOC112694756):c.*1705G>A rs539833998 0.00009
NM_001374504.1(TMPRSS6):c.287G>A (p.Arg96His) rs768158521 0.00009
NM_001374504.1(TMPRSS6):c.882G>A (p.Ala294=) rs370192027 0.00009
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) rs756998920 0.00009
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val) rs779068565 0.00009
NM_002049.4(GATA1):c.1157T>C (p.Leu386Pro) rs782120820 0.00009
NM_002049.4(GATA1):c.361G>A (p.Val121Met) rs200509606 0.00009
NM_002454.3(MTRR):c.1677-2dup rs747255318 0.00009
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_002454.3(MTRR):c.495C>T (p.Gly165=) rs139333376 0.00009
NM_002693.3(POLG):c.*122G>A rs886051517 0.00009
NM_002693.3(POLG):c.*44G>C rs563185483 0.00009
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile) rs369125471 0.00009
NM_003126.4(SPTA1):c.5808G>A (p.Lys1936=) rs766829938 0.00009
NM_003126.4(SPTA1):c.6601-10G>A rs753769799 0.00009
NM_004629.2(FANCG):c.373_375dup (p.Val125dup) rs750843326 0.00009
NM_004629.2(FANCG):c.375C>G (p.Val125=) rs199754122 0.00009
NM_004629.2(FANCG):c.646+15T>C rs551775705 0.00009
NM_004629.2(FANCG):c.647-16C>A rs200107462 0.00009
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val) rs368445200 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_005142.3(CBLIF):c.1074-3T>C rs370833765 0.00009
NM_005236.3(ERCC4):c.1123C>T (p.Leu375=) rs376695854 0.00009
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe) rs147458778 0.00009
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) rs368830992 0.00009
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.1860C>G (p.Leu620=) rs758451676 0.00009
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=) rs373237850 0.00009
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) rs146764714 0.00009
NM_005236.3(ERCC4):c.537A>G (p.Glu179=) rs373408411 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) rs202099968 0.00009
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=) rs370251100 0.00009
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) rs375755315 0.00009
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=) rs782522290 0.00009
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411 0.00009
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666 0.00009
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00009
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg) rs140466726 0.00009
NM_006516.4(SLC2A1):c.-26G>C rs375001117 0.00009
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) rs137868589 0.00009
NM_006516.4(SLC2A1):c.18+14C>T rs970369883 0.00009
NM_006947.4(SRP72):c.*839T>C rs757066668 0.00009
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647 0.00009
NM_015077.4(SARM1):c.1924-572G>C rs561043242 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_018062.4(FANCL):c.-3G>C rs766104531 0.00009
NM_018062.4(FANCL):c.217-4C>A rs369048526 0.00009
NM_018368.4(LMBRD1):c.*26A>G rs758279877 0.00009
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874 0.00009
NM_018368.4(LMBRD1):c.405+8T>C rs375415974 0.00009
NM_020937.4(FANCM):c.1396+10A>G rs371211104 0.00009
NM_020937.4(FANCM):c.1668T>C (p.Asp556=) rs142380037 0.00009
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
NM_020937.4(FANCM):c.3616C>G (p.Gln1206Glu) rs377167890 0.00009
NM_020937.4(FANCM):c.3829A>G (p.Asn1277Asp) rs946862124 0.00009
NM_020937.4(FANCM):c.4523C>G (p.Ala1508Gly) rs561723791 0.00009
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn) rs151273573 0.00009
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236 0.00009
NM_020937.4(FANCM):c.775A>G (p.Ile259Val) rs150256536 0.00009
NM_020937.4(FANCM):c.869T>C (p.Ile290Thr) rs377303950 0.00009
NM_021922.3(FANCE):c.1317-11C>T rs147572271 0.00009
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_021922.3(FANCE):c.856-5C>T rs749252957 0.00009
NM_022725.4(FANCF):c.*1512A>G rs571200561 0.00009
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys) rs750623273 0.00009
NM_022725.4(FANCF):c.911G>C (p.Trp304Ser) rs372140217 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg) rs753674809 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025215.6(PUS1):c.904G>A (p.Val302Met) rs148057665 0.00009
NM_030943.4(AMN):c.1123G>C (p.Val375Leu) rs759831593 0.00009
NM_030943.4(AMN):c.345G>A (p.Pro115=) rs749947054 0.00009
NM_032043.3(BRIP1):c.*1792G>A rs746869920 0.00009
NM_032043.3(BRIP1):c.1721C>T (p.Pro574Leu) rs377302300 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_032043.3(BRIP1):c.93+15G>A rs113052745 0.00009
NM_032444.4(SLX4):c.*887C>T rs557729822 0.00009
NM_032444.4(SLX4):c.1223G>A (p.Arg408Gln) rs377135500 0.00009
NM_032444.4(SLX4):c.1641G>A (p.Thr547=) rs200497436 0.00009
NM_032444.4(SLX4):c.2006G>A (p.Arg669His) rs200807331 0.00009
NM_032444.4(SLX4):c.3911T>G (p.Val1304Gly) rs146837290 0.00009
NM_032444.4(SLX4):c.4151T>C (p.Leu1384Pro) rs553317304 0.00009
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu) rs72778139 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_138477.4(CDAN1):c.1766A>G (p.Asp589Gly) rs148074362 0.00009
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_206965.2(FTCD):c.294C>T (p.Gly98=) rs371214676 0.00009
NM_206965.2(FTCD):c.321C>T (p.Cys107=) rs373447719 0.00009
NM_206965.2(FTCD):c.857G>A (p.Cys286Tyr) rs372299678 0.00009
NM_000037.4(ANK1):c.*1603C>G rs746821020 0.00008
NM_000037.4(ANK1):c.*31C>T rs371773460 0.00008
NM_000037.4(ANK1):c.*857C>A rs138767348 0.00008
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn) rs750068521 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209 0.00008
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283 0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.3734A>G (p.Gln1245Arg) rs542032916 0.00008
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=) rs17227389 0.00008
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507 0.00008
NM_000135.4(FANCA):c.709+9A>G rs371624767 0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960 0.00008
NM_000136.3(FANCC):c.1533+13G>A rs200515307 0.00008
NM_000254.3(MTR):c.2196+19G>T rs372533462 0.00008
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) rs529430607 0.00008
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=) rs146318448 0.00008
NM_000289.6(PFKM):c.1501-15C>T rs756212415 0.00008
NM_000289.6(PFKM):c.1992+5G>A rs180864041 0.00008
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_000355.4(TCN2):c.210C>T (p.Asp70=) rs148829072 0.00008
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser) rs199728304 0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_000355.4(TCN2):c.521G>A (p.Ser174Asn) rs375193056 0.00008
NM_000355.4(TCN2):c.855T>A (p.Asn285Lys) rs376839271 0.00008
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_000373.4(UMPS):c.*4119T>C rs747201281 0.00008
NM_000384.3(APOB):c.2160C>T (p.Tyr720=) rs756184175 0.00008
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857 0.00008
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000617.3(SLC11A2):c.*1739C>T rs766628921 0.00008
NM_000637.5(GSR):c.878C>G (p.Ser293Cys) rs762024253 0.00008
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_001011.4(RPS7):c.276C>G (p.Val92=) rs61730448 0.00008
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971 0.00008
NM_001018113.3(FANCB):c.-230A>T rs1020271259 0.00008
NM_001018113.3(FANCB):c.1077A>T (p.Ile359=) rs191379403 0.00008
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) rs142289802 0.00008
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) rs150435015 0.00008
NM_001018115.3(FANCD2):c.1279-2A>G rs748006255 0.00008
NM_001018115.3(FANCD2):c.2269+15C>T rs374096957 0.00008
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala) rs145099733 0.00008
NM_001018115.3(FANCD2):c.4281+37G>A rs376442380 0.00008
NM_001018115.3(FANCD2):c.439-18C>A rs184060118 0.00008
NM_001018115.3(FANCD2):c.672C>T (p.His224=) rs371928644 0.00008
NM_001022.4(RPS19):c.333A>G (p.Lys111=) rs781845960 0.00008
NM_001022.4(RPS19):c.356+13G>C rs781957086 0.00008
NM_001029.5(RPS26):c.63T>A (p.Ile21=) rs148167449 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.10838G>A (p.Arg3613His) rs148626202 0.00008
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala) rs748933632 0.00008
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_001081.4(CUBN):c.3824G>A (p.Arg1275Gln) rs755862991 0.00008
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) rs771763775 0.00008
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=) rs200977290 0.00008
NM_001081.4(CUBN):c.6320A>C (p.Lys2107Thr) rs368864485 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 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_001113378.2(FANCI):c.669+14A>G rs369804967 0.00008
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_001113525.2(ZNF276):c.*1224G>A rs763049986 0.00008
NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met) rs115972761 0.00008
NM_001360016.2(G6PD):c.1051+16G>A rs782637386 0.00008
NM_001360016.2(G6PD):c.120+7A>C rs369904290 0.00008
NM_001360016.2(G6PD):c.1287+3G>C rs782786750 0.00008
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=) rs369482861 0.00008
NM_001365304.2(LOC112694756):c.*622-5C>T rs752764982 0.00008
NM_001374504.1(TMPRSS6):c.*212T>A rs781781005 0.00008
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr) rs146513720 0.00008
NM_002454.3(MTRR):c.1058-17C>T rs754619256 0.00008
NM_002454.3(MTRR):c.129+10G>A rs6413427 0.00008
NM_002454.3(MTRR):c.1676+3A>G rs369853875 0.00008
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_003126.4(SPTA1):c.*341T>G rs867313542 0.00008
NM_003126.4(SPTA1):c.2875C>T (p.Arg959Trp) rs567687301 0.00008
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp) rs375016862 0.00008
NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val) rs150005713 0.00008
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322 0.00008
NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg) rs138504371 0.00008
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_005236.3(ERCC4):c.714G>A (p.Lys238=) rs780166871 0.00008
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=) rs781840891 0.00008
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala) rs782762959 0.00008
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00008
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=) rs782684668 0.00008
NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr) rs773290230 0.00008
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00008
NM_006947.4(SRP72):c.*1483A>G rs566533583 0.00008
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712 0.00008
NM_015077.4(SARM1):c.1924-234T>A rs1031838882 0.00008
NM_015702.3(MMADHC):c.600C>T (p.Leu200=) rs754142876 0.00008
NM_015702.3(MMADHC):c.610-12C>A rs371855955 0.00008
NM_018062.4(FANCL):c.1124A>C (p.His375Pro) rs545084971 0.00008
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
NM_018368.4(LMBRD1):c.1188+17del rs538437940 0.00008
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn) rs200639044 0.00008
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103 0.00008
NM_020937.4(FANCM):c.1309+5G>T rs370363591 0.00008
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=) rs574509639 0.00008
NM_020937.4(FANCM):c.4222+18dup rs760075544 0.00008
NM_020937.4(FANCM):c.4223-4A>G rs191128410 0.00008
NM_020937.4(FANCM):c.4318-1G>A rs752228025 0.00008
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg) rs572890751 0.00008
NM_020937.4(FANCM):c.4367G>A (p.Arg1456His) rs749332566 0.00008
NM_020937.4(FANCM):c.4716A>G (p.Pro1572=) rs953261541 0.00008
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175 0.00008
NM_021922.3(FANCE):c.1238-10C>T rs765940689 0.00008
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg) rs200083899 0.00008
NM_021922.3(FANCE):c.1464C>T (p.Ala488=) rs779775366 0.00008
NM_022725.4(FANCF):c.*336C>A rs750128615 0.00008
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr) rs372625322 0.00008
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu) rs200416138 0.00008
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) rs730881887 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro) rs587780223 0.00008
NM_030943.4(AMN):c.1258-8C>T rs750073599 0.00008
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His) rs574214196 0.00008
NM_032444.4(SLX4):c.4572C>T (p.Thr1524=) rs144666372 0.00008
NM_032444.4(SLX4):c.4665C>T (p.Pro1555=) rs749018784 0.00008
NM_032444.4(SLX4):c.4682C>T (p.Thr1561Met) rs543847606 0.00008
NM_032444.4(SLX4):c.5153+17G>A rs768122851 0.00008
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=) rs140231739 0.00008
NM_032444.4(SLX4):c.630A>G (p.Leu210=) rs746155183 0.00008
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile) rs41297067 0.00008
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696 0.00008
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798 0.00008
NM_182916.3(TRNT1):c.982A>G (p.Lys328Glu) rs747469885 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_198253.3(TERT):c.2127C>G (p.Val709=) rs765264494 0.00008
NM_206965.2(FTCD):c.1307G>A (p.Arg436His) rs373471933 0.00008
NM_206965.2(FTCD):c.138C>T (p.Arg46=) rs143498507 0.00008
NM_000037.4(ANK1):c.*372T>C rs1042068456 0.00007
NM_000037.4(ANK1):c.1535G>A (p.Arg512His) rs371259018 0.00007
NM_000037.4(ANK1):c.5208T>A (p.Ser1736Arg) rs750580242 0.00007
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000096.4(CP):c.1265A>G (p.Lys422Arg) rs200156117 0.00007
NM_000096.4(CP):c.2900G>C (p.Gly967Ala) rs370673560 0.00007
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972 0.00007
NM_000135.4(FANCA):c.1006+4G>C rs201771215 0.00007
NM_000135.4(FANCA):c.1225+14C>T rs376558078 0.00007
NM_000135.4(FANCA):c.1332G>A (p.Ala444=) rs377705748 0.00007
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068 0.00007
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile) rs200922390 0.00007
NM_000135.4(FANCA):c.2222+7G>A rs374312736 0.00007
NM_000135.4(FANCA):c.2505-18T>C rs750140062 0.00007
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) rs746125523 0.00007
NM_000135.4(FANCA):c.2820A>G (p.Gln940=) rs776686639 0.00007
NM_000135.4(FANCA):c.2981+4dup rs75004096 0.00007
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser) rs757175768 0.00007
NM_000135.4(FANCA):c.303A>G (p.Gln101=) rs199552612 0.00007
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro) rs556235245 0.00007
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000135.4(FANCA):c.3615G>A (p.Gln1205=) rs368349576 0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748 0.00007
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu) rs555519520 0.00007
NM_000135.4(FANCA):c.918G>A (p.Thr306=) rs199634699 0.00007
NM_000136.3(FANCC):c.*1028C>T rs556229977 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys) rs140992397 0.00007
NM_000136.3(FANCC):c.345+6A>T rs368595927 0.00007
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00007
NM_000136.3(FANCC):c.889A>T (p.Met297Leu) rs730881719 0.00007
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000254.3(MTR):c.2474-3T>A rs771491872 0.00007
NM_000254.3(MTR):c.3030C>T (p.Tyr1010=) rs777595935 0.00007
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=) rs560615373 0.00007
NM_000254.3(MTR):c.558C>T (p.Gly186=) rs139019399 0.00007
NM_000289.6(PFKM):c.594-18T>A rs372899080 0.00007
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000355.4(TCN2):c.1236C>T (p.Tyr412=) rs375447234 0.00007
NM_000355.4(TCN2):c.482T>C (p.Ile161Thr) rs763642038 0.00007
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000975.5(RPL11):c.6+9C>T rs758722817 0.00007
NM_000996.4(RPL35A):c.12-18G>A rs373448841 0.00007
NM_001014.5(RPS10):c.103C>T (p.Leu35=) rs143557454 0.00007
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_001018115.3(FANCD2):c.1200C>A (p.Asp400Glu) rs755295382 0.00007
NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=) rs752268889 0.00007
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_001018115.3(FANCD2):c.3642T>A (p.Ser1214=) rs538250317 0.00007
NM_001018115.3(FANCD2):c.3964-19A>G rs200544843 0.00007
NM_001018115.3(FANCD2):c.4281+328G>T rs1231972897 0.00007
NM_001022.4(RPS19):c.*54T>C rs527896025 0.00007
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) rs372098364 0.00007
NM_001063.4(TF):c.1615G>A (p.Ala539Thr) rs369813809 0.00007
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.3391A>G (p.Thr1131Ala) rs201138390 0.00007
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys) rs763563422 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.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=) rs138758085 0.00007
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu) rs575118918 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_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) rs139072231 0.00007
NM_001113378.2(FANCI):c.3481A>G (p.Thr1161Ala) rs767847271 0.00007
NM_001113378.2(FANCI):c.754G>A (p.Glu252Lys) rs776911782 0.00007
NM_001113378.2(FANCI):c.793C>T (p.Arg265Cys) rs753511061 0.00007
NM_001114134.2(EPB42):c.177G>A (p.Val59=) rs370961712 0.00007
NM_001114134.2(EPB42):c.353C>T (p.Ser118Leu) rs200509497 0.00007
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg) rs758323919 0.00007
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile) rs368207656 0.00007
NM_001360016.2(G6PD):c.1052-19T>C rs782238350 0.00007
NM_001367805.3(KIF23):c.2246C>T (p.Thr749Met) rs535792693 0.00007
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser) rs200114105 0.00007
NM_002049.4(GATA1):c.1046T>C (p.Val349Ala) rs146196033 0.00007
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe) rs372106115 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.1998A>C (p.Gln666His) rs767507060 0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=) rs114427781 0.00007
NM_002454.3(MTRR):c.519A>G (p.Ala173=) rs776844185 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_003126.4(SPTA1):c.243T>C (p.Tyr81=) rs369988146 0.00007
NM_004629.2(FANCG):c.421C>T (p.Arg141Cys) rs201153812 0.00007
NM_005050.4(ABCD4):c.1752+5C>T rs370270229 0.00007
NM_005050.4(ABCD4):c.425+6C>T rs368213518 0.00007
NM_005050.4(ABCD4):c.447C>T (p.Asp149=) rs143479125 0.00007
NM_005050.4(ABCD4):c.504G>A (p.Pro168=) rs753233201 0.00007
NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile) rs759872025 0.00007
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 0.00007
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn) rs55736359 0.00007
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) rs760922582 0.00007
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln) rs180919656 0.00007
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys) rs374978891 0.00007
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=) rs555317161 0.00007
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu) rs761087753 0.00007
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735 0.00007
NM_005334.3(HCFC1):c.1085-16C>G rs201181843 0.00007
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) rs782754046 0.00007
NM_005334.3(HCFC1):c.2029-9C>G rs374910917 0.00007
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) rs782058954 0.00007
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) rs183246703 0.00007
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446 0.00007
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) rs374047752 0.00007
NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp) rs147135162 0.00007
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=) rs766473215 0.00007
NM_006516.4(SLC2A1):c.*560T>C rs545613558 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_006563.5(KLF1):c.*185G>A rs137908457 0.00007
NM_006947.4(SRP72):c.*321A>G rs886059499 0.00007
NM_006947.4(SRP72):c.*622G>A rs775675334 0.00007
NM_015077.4(SARM1):c.*91G>A rs539239937 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_015702.3(MMADHC):c.513C>G (p.Gly171=) rs373384350 0.00007
NM_017875.4(SLC25A38):c.626-5T>C rs767154505 0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_020207.7(ERCC6L2):c.1772A>G (p.Asn591Ser) rs781374501 0.00007
NM_020207.7(ERCC6L2):c.2657C>T (p.Thr886Ile) rs1180420541 0.00007
NM_020937.4(FANCM):c.122C>T (p.Pro41Leu) rs548726090 0.00007
NM_020937.4(FANCM):c.1366G>A (p.Val456Ile) rs779075398 0.00007
NM_020937.4(FANCM):c.140A>G (p.Glu47Gly) rs756402229 0.00007
NM_020937.4(FANCM):c.1636G>A (p.Gly546Ser) rs768676143 0.00007
NM_020937.4(FANCM):c.1742G>A (p.Arg581His) rs748083548 0.00007
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr) rs147805461 0.00007
NM_020937.4(FANCM):c.2703A>G (p.Ser901=) rs781066677 0.00007
NM_020937.4(FANCM):c.2716A>T (p.Ile906Phe) rs773837264 0.00007
NM_020937.4(FANCM):c.2997G>A (p.Pro999=) rs141430587 0.00007
NM_020937.4(FANCM):c.3371C>T (p.Pro1124Leu) rs148605513 0.00007
NM_020937.4(FANCM):c.3469G>A (p.Glu1157Lys) rs374461604 0.00007
NM_020937.4(FANCM):c.3998A>C (p.Gln1333Pro) rs143681767 0.00007
NM_020937.4(FANCM):c.5579G>A (p.Arg1860His) rs776506025 0.00007
NM_020937.4(FANCM):c.5951A>T (p.Tyr1984Phe) rs202101508 0.00007
NM_020937.4(FANCM):c.93A>G (p.Arg31=) rs112641528 0.00007
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly) rs773580818 0.00007
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys) rs763151358 0.00007
NM_022725.4(FANCF):c.617C>T (p.Ala206Val) rs756213451 0.00007
NM_024675.4(PALB2):c.2032C>T (p.Leu678=) rs376189676 0.00007
NM_024675.4(PALB2):c.2100A>T (p.Ser700=) rs757145884 0.00007
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp) rs143828069 0.00007
NM_025215.6(PUS1):c.649G>A (p.Val217Ile) rs200591614 0.00007
NM_030943.4(AMN):c.197T>C (p.Val66Ala) rs371713937 0.00007
NM_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_032043.3(BRIP1):c.*477A>G rs1030551071 0.00007
NM_032043.3(BRIP1):c.1629-11T>C rs375710640 0.00007
NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln) rs145859791 0.00007
NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys) rs371185409 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 0.00007
NM_032444.4(SLX4):c.1232G>A (p.Arg411Gln) rs201009985 0.00007
NM_032444.4(SLX4):c.1385A>G (p.Lys462Arg) rs112133511 0.00007
NM_032444.4(SLX4):c.1701C>T (p.Pro567=) rs776750571 0.00007
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu) rs534528576 0.00007
NM_032444.4(SLX4):c.192A>G (p.Lys64=) rs756720856 0.00007
NM_032444.4(SLX4):c.2005C>T (p.Arg669Cys) rs375524355 0.00007
NM_032444.4(SLX4):c.2034T>G (p.Val678=) rs200278096 0.00007
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp) rs199656607 0.00007
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=) rs3810814 0.00007
NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr) rs370663234 0.00007
NM_032444.4(SLX4):c.3861G>A (p.Val1287=) rs756446820 0.00007
NM_032444.4(SLX4):c.4149C>T (p.Phe1383=) rs983816841 0.00007
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=) rs368388100 0.00007
NM_032444.4(SLX4):c.4393C>T (p.Arg1465Cys) rs765485426 0.00007
NM_032444.4(SLX4):c.4869G>A (p.Ala1623=) rs372206872 0.00007
NM_032444.4(SLX4):c.5208C>T (p.Gly1736=) rs569225834 0.00007
NM_032444.4(SLX4):c.679G>A (p.Ala227Thr) rs147872182 0.00007
NM_032444.4(SLX4):c.950+19G>A rs765606980 0.00007
NM_058216.3(RAD51C):c.769C>G (p.Leu257Val) rs750551012 0.00007
NM_080669.6(SLC46A1):c.849G>A (p.Gly283=) rs782306668 0.00007
NM_138477.4(CDAN1):c.2984G>A (p.Arg995His) rs369919247 0.00007
NM_182916.3(TRNT1):c.1057-4G>A rs150530824 0.00007
NM_182916.3(TRNT1):c.682A>G (p.Lys228Glu) rs372627156 0.00007
NM_182916.3(TRNT1):c.848A>G (p.Lys283Arg) rs201174442 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_206965.2(FTCD):c.1015T>A (p.Ser339Thr) rs1195012799 0.00007
NM_206965.2(FTCD):c.1304+20C>T rs756710291 0.00007
NM_206965.2(FTCD):c.625G>A (p.Gly209Arg) rs367906516 0.00007
NM_206965.2(FTCD):c.906+7C>T rs376001900 0.00007
NM_206965.2(FTCD):c.988G>A (p.Gly330Arg) rs774835292 0.00007
NM_000037.4(ANK1):c.1628C>T (p.Ala543Val) rs369233964 0.00006
NM_000037.4(ANK1):c.3443G>A (p.Arg1148Gln) rs771237247 0.00006
NM_000037.4(ANK1):c.4105-5T>G rs768183148 0.00006
NM_000037.4(ANK1):c.4538-6A>G rs776186305 0.00006
NM_000037.4(ANK1):c.4607G>A (p.Arg1536His) rs767213092 0.00006
NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile) rs376601712 0.00006
NM_000037.4(ANK1):c.909+9T>C rs756182531 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000096.3(CP):c.-199C>G rs772691705 0.00006
NM_000096.4(CP):c.1548C>T (p.Thr516=) rs184516720 0.00006
NM_000096.4(CP):c.1714-20C>T rs367695920 0.00006
NM_000096.4(CP):c.2681T>C (p.Ile894Thr) rs148809294 0.00006
NM_000096.4(CP):c.2952G>A (p.Leu984=) rs752058749 0.00006
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn) rs149217680 0.00006
NM_000096.4(CP):c.3183C>T (p.Asp1061=) rs184845153 0.00006
NM_000096.4(CP):c.921G>T (p.Lys307Asn) rs543777038 0.00006
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile) rs774948790 0.00006
NM_000135.4(FANCA):c.1226-4C>G rs934483477 0.00006
NM_000135.4(FANCA):c.1312G>A (p.Ala438Thr) rs752587443 0.00006
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.2778+12T>C rs775047268 0.00006
NM_000135.4(FANCA):c.2778+83C>T rs750997715 0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000135.4(FANCA):c.3066+16C>T rs199529426 0.00006
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588 0.00006
NM_000135.4(FANCA):c.3279C>T (p.Ser1093=) rs575863400 0.00006
NM_000135.4(FANCA):c.3348+17C>T rs192934767 0.00006
NM_000135.4(FANCA):c.3349-3C>T rs373861415 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3408+16A>G rs373636902 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.3626+16G>A rs375826280 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590 0.00006
NM_000135.4(FANCA):c.537T>G (p.Leu179=) rs749811331 0.00006
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 0.00006
NM_000135.4(FANCA):c.710-9G>A rs772864817 0.00006
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro) rs762721928 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000136.3(FANCC):c.*1649A>G rs560444013 0.00006
NM_000136.3(FANCC):c.*250G>A rs193261247 0.00006
NM_000136.3(FANCC):c.-65C>T rs371725430 0.00006
NM_000136.3(FANCC):c.1155-13G>T rs747142087 0.00006
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939 0.00006
NM_000136.3(FANCC):c.1329+238C>T rs768988593 0.00006
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro) rs587779903 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp) rs571548182 0.00006
NM_000136.3(FANCC):c.767A>G (p.His256Arg) rs730881716 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_000136.3(FANCC):c.974C>T (p.Ala325Val) rs367618818 0.00006
NM_000175.5(GPI):c.1325C>T (p.Thr442Met) rs758328180 0.00006
NM_000186.4(CFH):c.1418C>T (p.Ala473Val) rs371053403 0.00006
NM_000186.4(CFH):c.1922T>C (p.Val641Ala) rs371768180 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met) rs201360629 0.00006
NM_000186.4(CFH):c.2196G>A (p.Thr732=) rs144325643 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000186.4(CFH):c.3310+12T>C rs757045842 0.00006
NM_000254.3(MTR):c.1076-11C>T rs186367553 0.00006
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr) rs368619885 0.00006
NM_000254.3(MTR):c.2861C>T (p.Thr954Met) rs146931200 0.00006
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys) rs769801712 0.00006
NM_000254.3(MTR):c.502+13C>T rs201647375 0.00006
NM_000254.3(MTR):c.55C>T (p.Arg19Trp) rs376681897 0.00006
NM_000254.3(MTR):c.901C>G (p.Pro301Ala) rs766371534 0.00006
NM_000254.3(MTR):c.996-20T>C rs772967310 0.00006
NM_000289.6(PFKM):c.1060G>A (p.Val354Met) rs930337550 0.00006
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val) rs950246136 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.238-17T>A rs377146498 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000342.4(SLC4A1):c.*1198A>T rs886052992 0.00006
NM_000342.4(SLC4A1):c.*1305G>A rs566138996 0.00006
NM_000342.4(SLC4A1):c.*1393A>T rs139308660 0.00006
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=) rs55898602 0.00006
NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=) rs202243808 0.00006
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr) rs765911147 0.00006
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys) rs55840505 0.00006
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys) rs141370158 0.00006
NM_000355.4(TCN2):c.1110T>C (p.Tyr370=) rs369589347 0.00006
NM_000355.4(TCN2):c.139C>A (p.Leu47Met) rs200833932 0.00006
NM_000355.4(TCN2):c.257+13T>A rs375247830 0.00006
NM_000355.4(TCN2):c.391C>T (p.Leu131Phe) rs747887520 0.00006
NM_000355.4(TCN2):c.64+13C>T rs370228236 0.00006
NM_000355.4(TCN2):c.667A>G (p.Ile223Val) rs144889471 0.00006
NM_000365.6(TPI1):c.*253G>T rs782730165 0.00006
NM_000373.4(UMPS):c.*37C>T rs747349290 0.00006
NM_000373.4(UMPS):c.*4231A>G rs886057895 0.00006
NM_000375.3(UROS):c.-232G>A rs886046815 0.00006
NM_000375.3(UROS):c.63+1G>A rs373864821 0.00006
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00006
NM_000398.7(CYB5R3):c.316G>A (p.Val106Met) rs121965009 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.5(HBB):c.316-272G>C rs773343845 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000559.3(HBG1):c.364G>A (p.Glu122Lys) rs33963857 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_000637.5(GSR):c.1334C>T (p.Thr445Met) rs778165636 0.00006
NM_000969.5(RPL5):c.691G>A (p.Val231Ile) rs568863745 0.00006
NM_000975.5(RPL11):c.158-7C>T rs768654673 0.00006
NM_000975.5(RPL11):c.300A>G (p.Ser100=) rs372622822 0.00006
NM_000975.5(RPL11):c.378C>T (p.Tyr126=) rs774450430 0.00006
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr) rs533670667 0.00006
NM_001011.4(RPS7):c.-27C>T rs573443780 0.00006
NM_001011.4(RPS7):c.-3G>A rs751847851 0.00006
NM_001011.4(RPS7):c.148-6C>T rs533287773 0.00006
NM_001011.4(RPS7):c.75+13C>T rs751796318 0.00006
NM_001014.5(RPS10):c.437C>T (p.Ser146Leu) rs368791535 0.00006
NM_001018113.3(FANCB):c.2265A>G (p.Leu755=) rs777812135 0.00006
NM_001018115.3(FANCD2):c.-33-13G>A rs113338938 0.00006
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly) rs951763949 0.00006
NM_001018115.3(FANCD2):c.1546-8T>C rs530202330 0.00006
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys) rs143701205 0.00006
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_001018115.3(FANCD2):c.2859+13C>G rs376913349 0.00006
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln) rs755748094 0.00006
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His) rs566769898 0.00006
NM_001018115.3(FANCD2):c.4186-13C>T rs755767180 0.00006
NM_001018115.3(FANCD2):c.4281+257C>T rs886057694 0.00006
NM_001018115.3(FANCD2):c.538C>T (p.Leu180=) rs373835427 0.00006
NM_001018115.3(FANCD2):c.796G>A (p.Val266Met) rs530125285 0.00006
NM_001018115.3(FANCD2):c.889-9T>A rs767122938 0.00006
NM_001022.3(RPS19):c.-74C>T rs886054468 0.00006
NM_001022.4(RPS19):c.173-19C>G rs782495262 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr) rs782368794 0.00006
NM_001022.4(RPS19):c.411+19G>T rs782394063 0.00006
NM_001022.4(RPS19):c.71+19G>A rs377615364 0.00006
NM_001022.4(RPS19):c.75C>G (p.Ser25=) rs370343297 0.00006
NM_001029.5(RPS26):c.-33C>T rs372794158 0.00006
NM_001040436.3(YARS2):c.*478G>A rs925773588 0.00006
NM_001040436.3(YARS2):c.810C>T (p.Thr270=) rs145906298 0.00006
NM_001063.4(TF):c.154G>A (p.Asp52Asn) rs41298295 0.00006
NM_001063.4(TF):c.334A>G (p.Thr112Ala) rs199624323 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.1999A>G (p.Thr667Ala) rs141089159 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.3802C>T (p.Arg1268Cys) rs747558831 0.00006
NM_001081.4(CUBN):c.5092G>A (p.Gly1698Ser) rs201661017 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 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.8056T>C (p.Phe2686Leu) rs755819982 0.00006
NM_001081.4(CUBN):c.8613T>G (p.Thr2871=) rs775837120 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_001083116.3(PRF1):c.1636C>G (p.Pro546Ala) rs550799905 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly) rs149008055 0.00006
NM_001113378.2(FANCI):c.1112+3A>G rs367970067 0.00006
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg) rs377227097 0.00006
NM_001113378.2(FANCI):c.1734C>T (p.Val578=) rs536499156 0.00006
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.1972A>T (p.Ile658Phe) rs745308624 0.00006
NM_001113378.2(FANCI):c.2023T>C (p.Leu675=) rs144800324 0.00006
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys) rs1414995711 0.00006
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) rs377308647 0.00006
NM_001113378.2(FANCI):c.2292-11G>C rs763570868 0.00006
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly) rs768500794 0.00006
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) rs933284199 0.00006
NM_001113378.2(FANCI):c.2751T>C (p.Ser917=) rs202135041 0.00006
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln) rs142322239 0.00006
NM_001113378.2(FANCI):c.288+10C>T rs370505986 0.00006
NM_001113378.2(FANCI):c.288+3A>G rs538283826 0.00006
NM_001113378.2(FANCI):c.2890-19G>A rs758850736 0.00006
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp) rs755403672 0.00006
NM_001113378.2(FANCI):c.546-19T>C rs111301033 0.00006
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn) rs779604966 0.00006
NM_001113378.2(FANCI):c.798T>C (p.His266=) rs148856789 0.00006
NM_001113525.2(ZNF276):c.*2634C>T rs34476949 0.00006
NM_001113525.2(ZNF276):c.1753A>G (p.Lys585Glu) rs771942409 0.00006
NM_001114134.2(EPB42):c.10+97G>A rs372291145 0.00006
NM_001114134.2(EPB42):c.1007G>A (p.Arg336Gln) rs374503872 0.00006
NM_001114134.2(EPB42):c.137G>A (p.Arg46His) rs202154600 0.00006
NM_001142285.2(RPS24):c.799C>G (p.Pro267Ala) rs931570987 0.00006
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu) rs747788394 0.00006
NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr) rs372733273 0.00006
NM_001360016.2(G6PD):c.1014A>G (p.Ala338=) rs1401465965 0.00006
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile) rs782174983 0.00006
NM_001360016.2(G6PD):c.1272C>T (p.Tyr424=) rs186843026 0.00006
NM_001360016.2(G6PD):c.795G>A (p.Leu265=) rs374222477 0.00006
NM_001374504.1(TMPRSS6):c.1085C>T (p.Thr362Met) rs144261072 0.00006
NM_001374504.1(TMPRSS6):c.127C>T (p.Arg43Cys) rs750274321 0.00006
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) rs137853120 0.00006
NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys) rs201227668 0.00006
NM_001386140.1(MTTP):c.*1118C>T rs144013236 0.00006
NM_001386140.1(MTTP):c.1769+3A>G rs375993709 0.00006
NM_001386140.1(MTTP):c.393+11G>A rs367982075 0.00006
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met) rs375982037 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_002049.4(GATA1):c.295G>A (p.Gly99Ser) rs184815507 0.00006
NM_002049.4(GATA1):c.480T>C (p.Asn160=) rs143332634 0.00006
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys) rs140561920 0.00006
NM_002049.4(GATA1):c.678C>T (p.Asn226=) rs370522986 0.00006
NM_002049.4(GATA1):c.744+5G>A rs376546932 0.00006
NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro) rs377230398 0.00006
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) rs769915505 0.00006
NM_002454.3(MTRR):c.1370+18C>T rs374485961 0.00006
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_002454.3(MTRR):c.383A>G (p.His128Arg) rs185235284 0.00006
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser) rs375421492 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) rs750792237 0.00006
NM_003126.4(SPTA1):c.*294A>G rs886045378 0.00006
NM_003126.4(SPTA1):c.*39G>A rs202171095 0.00006
NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys) rs767641820 0.00006
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr) rs118088187 0.00006
NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val) rs375610306 0.00006
NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln) rs36057043 0.00006
NM_003126.4(SPTA1):c.3072C>T (p.Gly1024=) rs747751954 0.00006
NM_003126.4(SPTA1):c.444G>A (p.Leu148=) rs557685746 0.00006
NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr) rs778626016 0.00006
NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His) rs746762359 0.00006
NM_003126.4(SPTA1):c.5311-4T>A rs544472935 0.00006
NM_003126.4(SPTA1):c.54G>A (p.Leu18=) rs199690643 0.00006
NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu) rs747391167 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_004629.2(FANCG):c.-19G>A rs762155734 0.00006
NM_004629.2(FANCG):c.1048C>T (p.Leu350=) rs772109570 0.00006
NM_004629.2(FANCG):c.1182T>C (p.Pro394=) rs757225801 0.00006
NM_004629.2(FANCG):c.1297C>T (p.Arg433Trp) rs183777537 0.00006
NM_004629.2(FANCG):c.1433+9G>A rs187315404 0.00006
NM_004629.2(FANCG):c.1480+7T>C rs374096159 0.00006
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys) rs368098479 0.00006
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe) rs17878854 0.00006
NM_004629.2(FANCG):c.464G>A (p.Arg155His) rs201099560 0.00006
NM_004629.2(FANCG):c.705G>A (p.Ala235=) rs148910563 0.00006
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp) rs574511407 0.00006
NM_004629.2(FANCG):c.766C>T (p.His256Tyr) rs753955326 0.00006
NM_004629.2(FANCG):c.968T>C (p.Ile323Thr) rs752346718 0.00006
NM_005050.4(ABCD4):c.1518G>A (p.Val506=) rs372838114 0.00006
NM_005050.4(ABCD4):c.1716G>A (p.Thr572=) rs776137988 0.00006
NM_005142.3(CBLIF):c.1055G>A (p.Arg352His) rs771992791 0.00006
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) rs760404861 0.00006
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe) rs552142099 0.00006
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=) rs374556359 0.00006
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=) rs200818432 0.00006
NM_005236.3(ERCC4):c.257G>A (p.Arg86His) rs187435008 0.00006
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) rs368064765 0.00006
NM_005236.3(ERCC4):c.260G>A (p.Arg87His) rs371487368 0.00006
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NM_005334.3(HCFC1):c.1084+8C>T rs367698803 0.00006
NM_005334.3(HCFC1):c.1803+13C>T rs368179780 0.00006
NM_005334.3(HCFC1):c.1803+7G>A rs782241441 0.00006
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) rs782207714 0.00006
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) rs372071273 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_005431.2(XRCC2):c.39+8C>G rs200363289 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_006363.5(SEC23B):c.-394A>C rs561908920 0.00006
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00006
NM_006516.4(SLC2A1):c.19-12G>A rs372344816 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=) rs539490455 0.00006
NM_006947.4(SRP72):c.*1241C>T rs1282273094 0.00006
NM_006947.4(SRP72):c.133G>A (p.Val45Ile) rs201940585 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_015077.4(SARM1):c.*2276T>C rs782533706 0.00006
NM_015077.4(SARM1):c.*2308C>T rs535633260 0.00006
NM_015077.4(SARM1):c.*2585A>C rs886052750 0.00006
NM_015077.4(SARM1):c.*2894C>T rs893997849 0.00006
NM_015077.4(SARM1):c.*3310C>A rs41297121 0.00006
NM_015077.4(SARM1):c.*3359G>A rs782615925 0.00006
NM_015506.3(MMACHC):c.*10A>G rs367574509 0.00006
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) rs528744719 0.00006
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala) rs569132013 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.510T>C (p.Asn170=) rs745423033 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_018062.4(FANCL):c.273+7A>C rs745366278 0.00006
NM_018062.4(FANCL):c.288G>T (p.Lys96Asn) rs770368316 0.00006
NM_018062.4(FANCL):c.335C>T (p.Ser112Leu) rs756590256 0.00006
NM_018062.4(FANCL):c.471+9C>G rs376716140 0.00006
NM_018062.4(FANCL):c.4G>T (p.Ala2Ser) rs144057264 0.00006
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp) rs772025061 0.00006
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr) rs375328924 0.00006
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=) rs761693513 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_018368.4(LMBRD1):c.637-13G>A rs776621535 0.00006
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His) rs373241693 0.00006
NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln) rs530233908 0.00006
NM_020937.4(FANCM):c.1222G>C (p.Asp408His) rs199929558 0.00006
NM_020937.4(FANCM):c.1397-16T>A rs752547104 0.00006
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu) rs200717151 0.00006
NM_020937.4(FANCM):c.187G>A (p.Glu63Lys) rs768419961 0.00006
NM_020937.4(FANCM):c.1996A>G (p.Arg666Gly) rs78437454 0.00006
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys) rs200173413 0.00006
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val) rs199948045 0.00006
NM_020937.4(FANCM):c.2682A>C (p.Leu894=) rs757013722 0.00006
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=) rs199507375 0.00006
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val) rs573485502 0.00006
NM_020937.4(FANCM):c.3570C>A (p.Leu1190=) rs766057000 0.00006
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly) rs746030136 0.00006
NM_020937.4(FANCM):c.3794A>G (p.Glu1265Gly) rs763808637 0.00006
NM_020937.4(FANCM):c.3868A>G (p.Thr1290Ala) rs774044128 0.00006
NM_020937.4(FANCM):c.4708C>T (p.Arg1570Cys) rs139376041 0.00006
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His) rs377502779 0.00006
NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys) rs769919966 0.00006
NM_020937.4(FANCM):c.5770A>T (p.Thr1924Ser) rs747103379 0.00006
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys) rs199699785 0.00006
NM_020937.4(FANCM):c.6041T>C (p.Val2014Ala) rs374376462 0.00006
NM_020937.4(FANCM):c.6143T>C (p.Ile2048Thr) rs150447576 0.00006
NM_021922.3(FANCE):c.1062T>C (p.Asp354=) rs377505032 0.00006
NM_021922.3(FANCE):c.1278G>A (p.Met426Ile) rs758380315 0.00006
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr) rs1225225979 0.00006
NM_021922.3(FANCE):c.1509+8T>C rs562092952 0.00006
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr) rs377415237 0.00006
NM_021922.3(FANCE):c.1608C>G (p.Pro536=) rs370301848 0.00006
NM_021922.3(FANCE):c.17C>T (p.Ala6Val) rs1019486578 0.00006
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp) rs759034838 0.00006
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp) rs765538271 0.00006
NM_021922.3(FANCE):c.552A>C (p.Pro184=) rs138182352 0.00006
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys) rs142746353 0.00006
NM_021922.3(FANCE):c.901-20C>T rs754828130 0.00006
NM_021922.3(FANCE):c.954A>G (p.Glu318=) rs149719310 0.00006
NM_021922.3(FANCE):c.970-17C>A rs758179752 0.00006
NM_022725.4(FANCF):c.*1535T>A rs886048151 0.00006
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp) rs577253174 0.00006
NM_022725.4(FANCF):c.404G>T (p.Arg135Leu) rs759515146 0.00006
NM_022725.4(FANCF):c.887G>T (p.Gly296Val) rs571674814 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu) rs536644825 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln) rs199863621 0.00006
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515 0.00006
NM_030943.4(AMN):c.45A>C (p.Ala15=) rs753339887 0.00006
NM_030943.4(AMN):c.805C>T (p.Arg269Trp) rs200712130 0.00006
NM_032043.3(BRIP1):c.-22C>A rs377620948 0.00006
NM_032043.3(BRIP1):c.1053A>G (p.Pro351=) rs544977115 0.00006
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032043.3(BRIP1):c.1176A>G (p.Leu392=) rs550092661 0.00006
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=) rs730881640 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr) rs754242563 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_032444.4(SLX4):c.-19G>A rs113845637 0.00006
NM_032444.4(SLX4):c.-395C>T rs886051984 0.00006
NM_032444.4(SLX4):c.-41A>G rs772911988 0.00006
NM_032444.4(SLX4):c.-46G>A rs113023461 0.00006
NM_032444.4(SLX4):c.1010C>T (p.Pro337Leu) rs200363140 0.00006
NM_032444.4(SLX4):c.1160T>A (p.Phe387Tyr) rs767298613 0.00006
NM_032444.4(SLX4):c.1243G>A (p.Glu415Lys) rs146021821 0.00006
NM_032444.4(SLX4):c.1307C>T (p.Ala436Val) rs773539191 0.00006
NM_032444.4(SLX4):c.1442G>A (p.Arg481Gln) rs145194745 0.00006
NM_032444.4(SLX4):c.1455C>A (p.Asp485Glu) rs150053867 0.00006
NM_032444.4(SLX4):c.165C>T (p.Cys55=) rs202030834 0.00006
NM_032444.4(SLX4):c.1702G>A (p.Val568Met) rs371825444 0.00006
NM_032444.4(SLX4):c.1896G>C (p.Gly632=) rs200859735 0.00006
NM_032444.4(SLX4):c.1904C>T (p.Ala635Val) rs746717279 0.00006
NM_032444.4(SLX4):c.2181C>T (p.Ser727=) rs565391485 0.00006
NM_032444.4(SLX4):c.2381A>T (p.Asp794Val) rs201622632 0.00006
NM_032444.4(SLX4):c.2424C>T (p.Cys808=) rs774909246 0.00006
NM_032444.4(SLX4):c.2457G>A (p.Leu819=) rs148026020 0.00006
NM_032444.4(SLX4):c.258A>G (p.Ile86Met) rs112205823 0.00006
NM_032444.4(SLX4):c.2655G>A (p.Pro885=) rs564629312 0.00006
NM_032444.4(SLX4):c.2749G>A (p.Ala917Thr) rs148428054 0.00006
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile) rs781323142 0.00006
NM_032444.4(SLX4):c.2898G>A (p.Gln966=) rs748700450 0.00006
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836 0.00006
NM_032444.4(SLX4):c.2949C>T (p.Tyr983=) rs758944750 0.00006
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp) rs769271628 0.00006
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His) rs150453226 0.00006
NM_032444.4(SLX4):c.3138C>T (p.Arg1046=) rs527904726 0.00006
NM_032444.4(SLX4):c.3684T>C (p.Ser1228=) rs752040666 0.00006
NM_032444.4(SLX4):c.3738C>T (p.Ser1246=) rs376232540 0.00006
NM_032444.4(SLX4):c.3844C>T (p.Leu1282=) rs772652088 0.00006
NM_032444.4(SLX4):c.4146C>A (p.Ser1382Arg) rs926938694 0.00006
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=) rs139377113 0.00006
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=) rs139254595 0.00006
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser) rs551385115 0.00006
NM_032444.4(SLX4):c.5178G>A (p.Ala1726=) rs140666540 0.00006
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro) rs199838670 0.00006
NM_032444.4(SLX4):c.5441G>A (p.Arg1814His) rs201036767 0.00006
NM_032444.4(SLX4):c.5477G>A (p.Arg1826Gln) rs373558741 0.00006
NM_032444.4(SLX4):c.873G>A (p.Lys291=) rs751904877 0.00006
NM_032444.4(SLX4):c.900A>G (p.Gln300=) rs373867005 0.00006
NM_032444.4(SLX4):c.996G>T (p.Gln332His) rs377201471 0.00006
NM_032609.3(COX4I2):c.408G>A (p.Thr136=) rs375116097 0.00006
NM_058216.3(RAD51C):c.1108C>T (p.Arg370Ter) rs756744016 0.00006
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_058216.3(RAD51C):c.351A>G (p.Leu117=) rs370986989 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_058216.3(RAD51C):c.813C>T (p.Ser271=) rs376853755 0.00006
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00006
NM_058216.3(RAD51C):c.967T>C (p.Leu323=) rs747727600 0.00006
NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn) rs201540617 0.00006
NM_138477.4(CDAN1):c.1964C>T (p.Pro655Leu) rs368192130 0.00006
NM_138477.4(CDAN1):c.2008-15C>T rs774076440 0.00006
NM_138477.4(CDAN1):c.3316G>A (p.Glu1106Lys) rs551196529 0.00006
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_182916.3(TRNT1):c.1045T>G (p.Phe349Val) rs760473412 0.00006
NM_182916.3(TRNT1):c.1066C>T (p.Pro356Ser) rs375726663 0.00006
NM_182916.3(TRNT1):c.1081C>T (p.Arg361Cys) rs770721227 0.00006
NM_182916.3(TRNT1):c.149-19T>G rs3762748 0.00006
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val) rs146717589 0.00006
NM_182916.3(TRNT1):c.667A>G (p.Ile223Val) rs376974085 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_206965.2(FTCD):c.117C>T (p.Asp39=) rs751420192 0.00006
NM_206965.2(FTCD):c.1336C>T (p.Arg446Trp) rs201966668 0.00006
NM_206965.2(FTCD):c.1539+16G>T rs200000573 0.00006
NM_206965.2(FTCD):c.1540A>G (p.Ile514Val) rs369754449 0.00006
NM_206965.2(FTCD):c.236A>C (p.Gln79Pro) rs775726030 0.00006
NM_206965.2(FTCD):c.285C>T (p.Pro95=) rs572661766 0.00006
NM_206965.2(FTCD):c.296T>C (p.Val99Ala) rs374097903 0.00006
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) rs28941768 0.00006
NM_206965.2(FTCD):c.477G>A (p.Ala159=) rs764924772 0.00006
NM_206965.2(FTCD):c.532G>T (p.Ala178Ser) rs911364543 0.00006
NM_206965.2(FTCD):c.63C>T (p.Asp21=) rs775067212 0.00006
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) rs368764287 0.00005
NM_000037.4(ANK1):c.*1412G>A rs987022893 0.00005
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000037.4(ANK1):c.1521G>A (p.Leu507=) rs374623408 0.00005
NM_000037.4(ANK1):c.3941A>C (p.His1314Pro) rs753586006 0.00005
NM_000037.4(ANK1):c.5061C>G (p.Pro1687=) rs751121091 0.00005
NM_000059.4(BRCA2):c.*134C>T rs1228334381 0.00005
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000096.4(CP):c.*912C>G rs149920453 0.00005
NM_000096.4(CP):c.1131C>T (p.Ala377=) rs150733154 0.00005
NM_000096.4(CP):c.1132G>A (p.Ala378Thr) rs141270807 0.00005
NM_000096.4(CP):c.1472A>G (p.Tyr491Cys) rs373531113 0.00005
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.1359+16A>G rs200016746 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2015-5C>T rs780349960 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.2152-13T>C rs752105563 0.00005
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser) rs751015814 0.00005
NM_000135.4(FANCA):c.2316+9C>G rs776301232 0.00005
NM_000135.4(FANCA):c.2317-8C>T rs753766357 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile) rs376302719 0.00005
NM_000135.4(FANCA):c.2778+10C>T rs371786839 0.00005
NM_000135.4(FANCA):c.2779-11C>G rs185392597 0.00005
NM_000135.4(FANCA):c.27C>T (p.Ser9=) rs540584108 0.00005
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly) rs144171225 0.00005
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151 0.00005
NM_000135.4(FANCA):c.897C>T (p.Phe299=) rs765341703 0.00005
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377 0.00005
NM_000136.3(FANCC):c.*884C>T rs1038927110 0.00005
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu) rs200719554 0.00005
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys) rs730881723 0.00005
NM_000136.3(FANCC):c.1329+306C>T rs185023012 0.00005
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 0.00005
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450 0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys) rs185822330 0.00005
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser) rs200854639 0.00005
NM_000136.3(FANCC):c.897-8T>C rs878853673 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000186.4(CFH):c.2085T>A (p.Pro695=) rs777482186 0.00005
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser) rs147670189 0.00005
NM_000254.3(MTR):c.2235C>T (p.Gly745=) rs1453742538 0.00005
NM_000254.3(MTR):c.2994C>T (p.Asn998=) rs778549407 0.00005
NM_000254.3(MTR):c.3384G>A (p.Ala1128=) rs767454577 0.00005
NM_000254.3(MTR):c.759A>C (p.Pro253=) rs752365220 0.00005
NM_000254.3(MTR):c.764+6T>C rs377357761 0.00005
NM_000289.6(PFKM):c.1127+13C>T rs376042142 0.00005
NM_000289.6(PFKM):c.1212T>C (p.Ala404=) rs1203272613 0.00005
NM_000289.6(PFKM):c.1476C>T (p.Gly492=) rs200847712 0.00005
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=) rs745739278 0.00005
NM_000289.6(PFKM):c.2253C>A (p.Ile751=) rs370779782 0.00005
NM_000289.6(PFKM):c.327G>A (p.Gly109=) rs751902983 0.00005
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln) rs374805791 0.00005
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp) rs774192277 0.00005
NM_000342.4(SLC4A1):c.*431T>C rs951207868 0.00005
NM_000342.4(SLC4A1):c.*977G>A rs886052993 0.00005
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=) rs754017629 0.00005
NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val) rs141605301 0.00005
NM_000355.4(TCN2):c.-34A>G rs199511962 0.00005
NM_000355.4(TCN2):c.1053C>T (p.Ala351=) rs142555281 0.00005
NM_000355.4(TCN2):c.1272G>A (p.Leu424=) rs560391371 0.00005
NM_000355.4(TCN2):c.279C>T (p.Asp93=) rs138467610 0.00005
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) rs775586639 0.00005
NM_000355.4(TCN2):c.428-2_428-1del rs955351335 0.00005
NM_000355.4(TCN2):c.857C>T (p.Ala286Val) rs149231407 0.00005
NM_000355.4(TCN2):c.970C>T (p.Pro324Ser) rs149299209 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_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542 0.00005
NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe) rs147960720 0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 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_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124 0.00005
NM_000975.5(RPL11):c.51C>T (p.Ile17=) rs766157130 0.00005
NM_000987.5(RPL26):c.288C>T (p.His96=) rs573206384 0.00005
NM_000987.5(RPL26):c.327A>G (p.Leu109=) rs755255765 0.00005
NM_000996.4(RPL35A):c.12-5C>G rs541454864 0.00005
NM_001011.4(RPS7):c.543G>A (p.Thr181=) rs776954129 0.00005
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919 0.00005
NM_001014.5(RPS10):c.401-9A>G rs760917852 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018113.3(FANCB):c.1838G>A (p.Arg613His) rs144764663 0.00005
NM_001018113.3(FANCB):c.197C>T (p.Thr66Ile) rs750180189 0.00005
NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe) rs373141774 0.00005
NM_001018113.3(FANCB):c.2165+10A>T rs184385334 0.00005
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr) rs756392097 0.00005
NM_001018113.3(FANCB):c.388A>G (p.Met130Val) rs776724055 0.00005
NM_001018115.3(FANCD2):c.1068T>C (p.Tyr356=) rs531943246 0.00005
NM_001018115.3(FANCD2):c.1373A>G (p.Tyr458Cys) rs535519170 0.00005
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val) rs201408009 0.00005
NM_001018115.3(FANCD2):c.183G>A (p.Thr61=) rs771445756 0.00005
NM_001018115.3(FANCD2):c.2022-4G>A rs748941966 0.00005
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn) rs534038231 0.00005
NM_001018115.3(FANCD2):c.3778-20C>T rs751107447 0.00005
NM_001018115.3(FANCD2):c.3850-17G>T rs369702202 0.00005
NM_001018115.3(FANCD2):c.4296C>T (p.Asp1432=) rs202028246 0.00005
NM_001018115.3(FANCD2):c.696-11A>G rs376488313 0.00005
NM_001018115.3(FANCD2):c.836C>T (p.Pro279Leu) rs752880854 0.00005
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp) rs778865461 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001022.4(RPS19):c.357-17C>T rs782356785 0.00005
NM_001029.5(RPS26):c.60T>A (p.Pro20=) rs368838700 0.00005
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742 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.10235C>T (p.Pro3412Leu) rs556303931 0.00005
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser) rs776471095 0.00005
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.1558C>T (p.Arg520Trp) rs564637804 0.00005
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile) rs141874896 0.00005
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=) rs199763912 0.00005
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser) rs201251467 0.00005
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 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_001081.4(CUBN):c.7300G>A (p.Gly2434Ser) rs144565631 0.00005
NM_001081.4(CUBN):c.7470C>T (p.Ile2490=) rs779269108 0.00005
NM_001081.4(CUBN):c.7899C>T (p.Leu2633=) rs751019710 0.00005
NM_001081.4(CUBN):c.9315C>T (p.Ser3105=) rs376662992 0.00005
NM_001081.4(CUBN):c.9681T>A (p.Ser3227Arg) rs773439837 0.00005
NM_001083116.3(PRF1):c.796A>G (p.Ile266Val) rs200824018 0.00005
NM_001113378.2(FANCI):c.1113-10G>C rs756650711 0.00005
NM_001113378.2(FANCI):c.1248G>A (p.Gln416=) rs998334333 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp) rs371568506 0.00005
NM_001113378.2(FANCI):c.1704T>C (p.His568=) rs200990786 0.00005
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser) rs573652425 0.00005
NM_001113378.2(FANCI):c.1891-3C>T rs371578898 0.00005
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=) rs762453164 0.00005
NM_001113378.2(FANCI):c.3007-7A>G rs778906473 0.00005
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412 0.00005
NM_001113378.2(FANCI):c.534C>T (p.Thr178=) rs754733731 0.00005
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg) rs772035961 0.00005
NM_001114134.2(EPB42):c.1661G>A (p.Arg554Gln) rs150037117 0.00005
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) rs906425217 0.00005
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr) rs776039915 0.00005
NM_001174125.2(SLC11A2):c.49+1746C>T rs886763852 0.00005
NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=) rs532473202 0.00005
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys) rs146976414 0.00005
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=) rs150741747 0.00005
NM_001355436.2(SPTB):c.3764+8C>T rs200257205 0.00005
NM_001360016.2(G6PD):c.1065C>T (p.Ile355=) rs1557229753 0.00005
NM_001360016.2(G6PD):c.1191C>T (p.Asn397=) rs781798712 0.00005
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr) rs782422580 0.00005
NM_001360016.2(G6PD):c.207C>T (p.Gly69=) rs782770344 0.00005
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) rs5030870 0.00005
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) rs781917123 0.00005
NM_001360016.2(G6PD):c.696C>T (p.Cys232=) rs782061495 0.00005
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile) rs781948754 0.00005
NM_001360016.2(G6PD):c.865-16C>T rs199970830 0.00005
NM_001360016.2(G6PD):c.972C>T (p.Asp324=) rs782534709 0.00005
NM_001374504.1(TMPRSS6):c.589+9T>C rs377665035 0.00005
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro) rs199764020 0.00005
NM_001386140.1(MTTP):c.173G>A (p.Arg58His) rs201464944 0.00005
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys) rs148696330 0.00005
NM_002049.4(GATA1):c.1230G>A (p.Pro410=) rs201176390 0.00005
NM_002049.4(GATA1):c.594C>A (p.Pro198=) rs369844571 0.00005
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) rs202110383 0.00005
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) rs757635349 0.00005
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) rs572568222 0.00005
NM_002485.5(NBN):c.52C>A (p.Leu18Ile) rs587781939 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_002948.5(RPL15):c.458A>G (p.Lys153Arg) rs370700905 0.00005
NM_003126.4(SPTA1):c.5004A>G (p.Thr1668=) rs768234604 0.00005
NM_003126.4(SPTA1):c.812+7A>T rs186595817 0.00005
NM_004629.2(FANCG):c.1158C>G (p.Pro386=) rs201041980 0.00005
NM_004629.2(FANCG):c.1636+20G>A rs369348926 0.00005
NM_004629.2(FANCG):c.55A>G (p.Lys19Glu) rs186641344 0.00005
NM_004629.2(FANCG):c.704C>T (p.Ala235Val) rs574975594 0.00005
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys) rs759314410 0.00005
NM_004629.2(FANCG):c.933T>C (p.Asn311=) rs1283707202 0.00005
NM_005050.4(ABCD4):c.1028+5G>A rs533842238 0.00005
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=) rs561519173 0.00005
NM_005050.4(ABCD4):c.249A>G (p.Thr83=) rs773214307 0.00005
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601 0.00005
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser) rs538521064 0.00005
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282 0.00005
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn) rs1238124123 0.00005
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys) rs150291286 0.00005
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met) rs373906926 0.00005
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu) rs750999717 0.00005
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=) rs781810369 0.00005
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=) rs200268397 0.00005
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) rs201117046 0.00005
NM_005334.3(HCFC1):c.1606-13G>A rs782300809 0.00005
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=) rs371233332 0.00005
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797 0.00005
NM_005334.3(HCFC1):c.2134-20C>A rs368718262 0.00005
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=) rs1459988694 0.00005
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) rs782017804 0.00005
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=) rs782045987 0.00005
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met) rs782413424 0.00005
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=) rs782670703 0.00005
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858 0.00005
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser) rs782310209 0.00005
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) rs782354655 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys) rs201270568 0.00005
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp) rs759146033 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_006563.5(KLF1):c.757G>A (p.Glu253Lys) rs757861047 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) rs121918330 0.00005
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs) rs750871999 0.00005
NM_018062.4(FANCL):c.261G>A (p.Leu87=) rs1049409962 0.00005
NM_018062.4(FANCL):c.343A>G (p.Ile115Val) rs149414332 0.00005
NM_018062.4(FANCL):c.374+18_374+29del rs775890254 0.00005
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met) rs767657325 0.00005
NM_018368.4(LMBRD1):c.474-20A>G rs952976480 0.00005
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His) rs142962811 0.00005
NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser) rs1257244524 0.00005
NM_020937.4(FANCM):c.1328T>G (p.Phe443Cys) rs549724218 0.00005
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
NM_020937.4(FANCM):c.1550C>T (p.Thr517Met) rs149473953 0.00005
NM_020937.4(FANCM):c.2161-18A>G rs780042399 0.00005
NM_020937.4(FANCM):c.2426T>G (p.Phe809Cys) rs565347397 0.00005
NM_020937.4(FANCM):c.317A>G (p.Asn106Ser) rs550700790 0.00005
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met) rs151218879 0.00005
NM_020937.4(FANCM):c.3777A>G (p.Leu1259=) rs759051559 0.00005
NM_020937.4(FANCM):c.4387-13C>T rs548622939 0.00005
NM_020937.4(FANCM):c.4776G>A (p.Ser1592=) rs964884247 0.00005
NM_020937.4(FANCM):c.4936G>C (p.Ala1646Pro) rs751104662 0.00005
NM_020937.4(FANCM):c.523T>C (p.Ser175Pro) rs779858649 0.00005
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 0.00005
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr) rs768911543 0.00005
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe) rs759124595 0.00005
NM_021922.3(FANCE):c.656G>T (p.Arg219Ile) rs551170184 0.00005
NM_021922.3(FANCE):c.856-3C>T rs749111562 0.00005
NM_021922.3(FANCE):c.861G>A (p.Gln287=) rs772248459 0.00005
NM_022725.4(FANCF):c.*499T>C rs566136504 0.00005
NM_022725.4(FANCF):c.372C>G (p.Ala124=) rs199705194 0.00005
NM_022725.4(FANCF):c.537G>A (p.Lys179=) rs772589448 0.00005
NM_022725.4(FANCF):c.873A>G (p.Lys291=) rs757578045 0.00005
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) rs146434474 0.00005
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg) rs142343372 0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) rs730881894 0.00005
NM_025215.6(PUS1):c.1068G>A (p.Leu356=) rs201753270 0.00005
NM_025215.6(PUS1):c.564C>T (p.Gly188=) rs369250859 0.00005
NM_025215.6(PUS1):c.984G>A (p.Ala328=) rs143660941 0.00005
NM_030943.4(AMN):c.175C>T (p.Leu59=) rs199629027 0.00005
NM_030943.4(AMN):c.400C>G (p.Arg134Gly) rs758317090 0.00005
NM_032043.3(BRIP1):c.*2692A>G rs886053204 0.00005
NM_032043.3(BRIP1):c.*659G>A rs769375960 0.00005
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly) rs577768294 0.00005
NM_032043.3(BRIP1):c.1936-4C>T rs587780552 0.00005
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His) rs587782244 0.00005
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666 0.00005
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=) rs764848326 0.00005
NM_032444.4(SLX4):c.*98A>G rs551538592 0.00005
NM_032444.4(SLX4):c.-602-6C>G rs886051986 0.00005
NM_032444.4(SLX4):c.1379G>A (p.Arg460His) rs369994733 0.00005
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys) rs139757085 0.00005
NM_032444.4(SLX4):c.1640C>T (p.Thr547Met) rs755156257 0.00005
NM_032444.4(SLX4):c.1924+9C>T rs767533009 0.00005
NM_032444.4(SLX4):c.1932C>T (p.Asp644=) rs562351012 0.00005
NM_032444.4(SLX4):c.1941C>T (p.Pro647=) rs540288743 0.00005
NM_032444.4(SLX4):c.1945G>A (p.Gly649Ser) rs780269002 0.00005
NM_032444.4(SLX4):c.1990C>A (p.Pro664Thr) rs759223029 0.00005
NM_032444.4(SLX4):c.2100G>A (p.Gly700=) rs755000337 0.00005
NM_032444.4(SLX4):c.2112C>T (p.Tyr704=) rs566797597 0.00005
NM_032444.4(SLX4):c.2259C>G (p.His753Gln) rs374294258 0.00005
NM_032444.4(SLX4):c.237T>C (p.Ala79=) rs375620914 0.00005
NM_032444.4(SLX4):c.2612C>T (p.Ala871Val) rs138259798 0.00005
NM_032444.4(SLX4):c.2869A>T (p.Ser957Cys) rs776932605 0.00005
NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys) rs138798067 0.00005
NM_032444.4(SLX4):c.3061C>T (p.Arg1021Cys) rs138344471 0.00005
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys) rs140529288 0.00005
NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys) rs569194362 0.00005
NM_032444.4(SLX4):c.3409A>G (p.Arg1137Gly) rs761238767 0.00005
NM_032444.4(SLX4):c.3701C>T (p.Ala1234Val) rs186036075 0.00005
NM_032444.4(SLX4):c.3801T>C (p.Arg1267=) rs772673695 0.00005
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg) rs754996241 0.00005
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102 0.00005
NM_032444.4(SLX4):c.4567G>C (p.Glu1523Gln) rs148542931 0.00005
NM_032444.4(SLX4):c.461G>A (p.Arg154Gln) rs778404827 0.00005
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met) rs765601038 0.00005
NM_032444.4(SLX4):c.4716G>A (p.Pro1572=) rs372472816 0.00005
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys) rs560866356 0.00005
NM_032444.4(SLX4):c.4856C>T (p.Pro1619Leu) rs771200478 0.00005
NM_032444.4(SLX4):c.528A>T (p.Lys176Asn) rs778569160 0.00005
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys) rs371875095 0.00005
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys) rs762619200 0.00005
NM_032444.4(SLX4):c.5476C>T (p.Arg1826Trp) rs199736788 0.00005
NM_032444.4(SLX4):c.621A>G (p.Gln207=) rs747450611 0.00005
NM_032444.4(SLX4):c.668G>A (p.Arg223His) rs762475814 0.00005
NM_058216.3(RAD51C):c.331C>T (p.Leu111Phe) rs1402638488 0.00005
NM_138477.4(CDAN1):c.114G>A (p.Ala38=) rs560030704 0.00005
NM_138477.4(CDAN1):c.1839G>A (p.Gly613=) rs148994527 0.00005
NM_138477.4(CDAN1):c.2406C>T (p.Ile802=) rs145050561 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_182916.3(TRNT1):c.608+1G>T rs529290186 0.00005
NM_182916.3(TRNT1):c.697A>G (p.Ile233Val) rs377218988 0.00005
NM_182916.3(TRNT1):c.975T>C (p.Phe325=) rs372604723 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln) rs372675935 0.00004
NM_000032.5(ALAS2):c.416-11T>C rs977637650 0.00004
NM_000037.4(ANK1):c.1441G>A (p.Gly481Ser) rs201980785 0.00004
NM_000037.4(ANK1):c.1638C>T (p.Tyr546=) rs771419825 0.00004
NM_000037.4(ANK1):c.1800+3A>T rs559020131 0.00004
NM_000037.4(ANK1):c.2601T>C (p.Pro867=) rs540851221 0.00004
NM_000037.4(ANK1):c.2688C>T (p.Thr896=) rs377333429 0.00004
NM_000037.4(ANK1):c.2760C>T (p.Asp920=) rs201312056 0.00004
NM_000037.4(ANK1):c.2817G>A (p.Pro939=) rs751319722 0.00004
NM_000037.4(ANK1):c.3002G>A (p.Arg1001His) rs144724635 0.00004
NM_000037.4(ANK1):c.4472G>A (p.Arg1491His) rs372878614 0.00004
NM_000037.4(ANK1):c.4976C>T (p.Ala1659Val) rs369796910 0.00004
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000037.4(ANK1):c.563C>T (p.Thr188Met) rs146346710 0.00004
NM_000059.4(BRCA2):c.*623C>T rs145550800 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.316+13A>G rs773097109 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly) rs756105620 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000096.4(CP):c.1408G>T (p.Ala470Ser) rs781567080 0.00004
NM_000096.4(CP):c.1437G>A (p.Gly479=) rs200883005 0.00004
NM_000096.4(CP):c.1899T>C (p.Gly633=) rs147192657 0.00004
NM_000096.4(CP):c.1922C>T (p.Ser641Leu) rs758412535 0.00004
NM_000096.4(CP):c.2142T>C (p.Thr714=) rs61734460 0.00004
NM_000096.4(CP):c.2662-14T>C rs189155564 0.00004
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) rs1043139127 0.00004
NM_000096.4(CP):c.2827G>A (p.Glu943Lys) rs571448440 0.00004
NM_000096.4(CP):c.623A>G (p.Glu208Gly) rs200933607 0.00004
NM_000096.4(CP):c.750C>T (p.Asn250=) rs753021289 0.00004
NM_000135.4(FANCA):c.1007-6C>T rs770125368 0.00004
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) rs1460026241 0.00004
NM_000135.4(FANCA):c.1359+5G>C rs183569738 0.00004
NM_000135.4(FANCA):c.1360-19C>T rs766723015 0.00004
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) rs761957732 0.00004
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237 0.00004
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171 0.00004
NM_000135.4(FANCA):c.1715+16G>A rs752140435 0.00004
NM_000135.4(FANCA):c.1716-3C>T rs760855591 0.00004
NM_000135.4(FANCA):c.1731T>G (p.Pro577=) rs770851966 0.00004
NM_000135.4(FANCA):c.1777-13T>C rs368496868 0.00004
NM_000135.4(FANCA):c.1777-15C>G rs371919426 0.00004
NM_000135.4(FANCA):c.1799G>A (p.Arg600His) rs775917892 0.00004
NM_000135.4(FANCA):c.1887A>G (p.Glu629=) rs769662954 0.00004
NM_000135.4(FANCA):c.189+5G>A rs373907502 0.00004
NM_000135.4(FANCA):c.189+7G>A rs369985388 0.00004
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283 0.00004
NM_000135.4(FANCA):c.1929C>G (p.Pro643=) rs1360940645 0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000135.4(FANCA):c.2088C>T (p.Ser696=) rs150917432 0.00004
NM_000135.4(FANCA):c.2090T>C (p.Val697Ala) rs777863668 0.00004
NM_000135.4(FANCA):c.2222+14C>T rs368973617 0.00004
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355 0.00004
NM_000135.4(FANCA):c.2277T>G (p.Pro759=) rs370053960 0.00004
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln) rs377442601 0.00004
NM_000135.4(FANCA):c.2371C>T (p.Leu791=) rs541949982 0.00004
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756 0.00004
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) rs142869950 0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403 0.00004
NM_000135.4(FANCA):c.2602-16T>G rs762865666 0.00004
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315 0.00004
NM_000135.4(FANCA):c.2982-15G>A rs55718325 0.00004
NM_000135.4(FANCA):c.2982-8C>G rs781331325 0.00004
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826 0.00004
NM_000135.4(FANCA):c.3226C>G (p.Leu1076Val) rs368921238 0.00004
NM_000135.4(FANCA):c.3239+7C>T rs775293779 0.00004
NM_000135.4(FANCA):c.3261G>A (p.Ser1087=) rs139126509 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.3409-6C>T rs377428227 0.00004
NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn) rs375630115 0.00004
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582 0.00004
NM_000135.4(FANCA):c.3552G>A (p.Arg1184=) rs774029286 0.00004
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820 0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=) rs187074190 0.00004
NM_000135.4(FANCA):c.3693C>T (p.His1231=) rs144524132 0.00004
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu) rs576079738 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000135.4(FANCA):c.4084T>C (p.Leu1362=) rs775351812 0.00004
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu) rs760814763 0.00004
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=) rs368985041 0.00004
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=) rs367630825 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000135.4(FANCA):c.498C>T (p.Phe166=) rs757941026 0.00004
NM_000135.4(FANCA):c.596+6G>A rs369548513 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000135.4(FANCA):c.826+13C>G rs34240625 0.00004
NM_000135.4(FANCA):c.827-6C>G rs756991336 0.00004
NM_000135.4(FANCA):c.894-15C>T rs753166995 0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg) rs764121307 0.00004
NM_000135.4(FANCA):c.957C>G (p.Phe319Leu) rs17226068 0.00004
NM_000135.4(FANCA):c.984C>T (p.Leu328=) rs907022035 0.00004
NM_000136.3(FANCC):c.*1197A>G rs1026341216 0.00004
NM_000136.3(FANCC):c.*1675A>G rs183099416 0.00004
NM_000136.3(FANCC):c.*1901C>T rs756111303 0.00004
NM_000136.3(FANCC):c.*2308G>A rs1042363957 0.00004
NM_000136.3(FANCC):c.*7C>T rs372511678 0.00004
NM_000136.3(FANCC):c.-18C>G rs762660689 0.00004
NM_000136.3(FANCC):c.-246A>G rs1000528763 0.00004
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp) rs140348260 0.00004
NM_000136.3(FANCC):c.1073-4G>A rs147695697 0.00004
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 0.00004
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302 0.00004
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys) rs752855423 0.00004
NM_000136.3(FANCC):c.1604G>A (p.Arg535His) rs587779902 0.00004
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) rs375362894 0.00004
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154 0.00004
NM_000136.3(FANCC):c.250+15C>T rs200138313 0.00004
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204 0.00004
NM_000136.3(FANCC):c.457-12T>A rs188659251 0.00004
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr) rs950623649 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000136.3(FANCC):c.626G>A (p.Arg209His) rs587778327 0.00004
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663 0.00004
NM_000136.3(FANCC):c.9A>T (p.Gln3His) rs769585639 0.00004
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys) rs758132799 0.00004
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000175.5(GPI):c.286C>T (p.Arg96Ter) rs781245249 0.00004
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) rs201411537 0.00004
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) rs752859825 0.00004
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2596+8G>T rs375176505 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) rs121913054 0.00004
NM_000186.4(CFH):c.764G>A (p.Gly255Glu) rs771112278 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000253.4(MTTP):c.-153C>G rs886058954 0.00004
NM_000254.3(MTR):c.1086C>G (p.Pro362=) rs779393795 0.00004
NM_000254.3(MTR):c.1128G>A (p.Glu376=) rs759636736 0.00004
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) rs200479834 0.00004
NM_000254.3(MTR):c.1722T>C (p.Ser574=) rs142857114 0.00004
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala) rs144374509 0.00004
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg) rs750824195 0.00004
NM_000254.3(MTR):c.2326G>A (p.Val776Met) rs542575330 0.00004
NM_000254.3(MTR):c.2328G>T (p.Val776=) rs980038551 0.00004
NM_000254.3(MTR):c.2474-20T>A rs377347275 0.00004
NM_000254.3(MTR):c.250-1G>C rs145939391 0.00004
NM_000254.3(MTR):c.2703A>G (p.Leu901=) rs780615625 0.00004
NM_000254.3(MTR):c.2718T>C (p.Phe906=) rs371962565 0.00004
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp) rs201015844 0.00004
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln) rs556429682 0.00004
NM_000254.3(MTR):c.356T>C (p.Met119Thr) rs151161326 0.00004
NM_000254.3(MTR):c.632A>G (p.Asn211Ser) rs546918671 0.00004
NM_000254.3(MTR):c.659G>A (p.Arg220Gln) rs780526997 0.00004
NM_000254.3(MTR):c.996-5C>T rs914525473 0.00004
NM_000289.6(PFKM):c.1044C>G (p.Leu348=) rs749882480 0.00004
NM_000289.6(PFKM):c.1063-18G>A rs531023136 0.00004
NM_000289.6(PFKM):c.1063-19C>T rs772630501 0.00004
NM_000289.6(PFKM):c.1320C>T (p.Phe440=) rs540444775 0.00004
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669 0.00004
NM_000289.6(PFKM):c.1956C>T (p.Phe652=) rs771733776 0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000289.6(PFKM):c.468G>C (p.Leu156=) rs772301967 0.00004
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752 0.00004
NM_000298.6(PKLR):c.*342C>T rs879040355 0.00004
NM_000298.6(PKLR):c.*346_*348del rs556763356 0.00004
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085 0.00004
NM_000324.3(RHAG):c.157+1G>A rs375508949 0.00004
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749 0.00004
NM_000342.4(SLC4A1):c.*135G>A rs566741511 0.00004
NM_000342.4(SLC4A1):c.*1596A>C rs886052990 0.00004
NM_000342.4(SLC4A1):c.*54A>G rs758901858 0.00004
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln) rs201280873 0.00004
NM_000342.4(SLC4A1):c.1800+17C>T rs370756072 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=) rs766674440 0.00004
NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu) rs764833865 0.00004
NM_000355.3(TCN2):c.-191G>A rs886057394 0.00004
NM_000355.3(TCN2):c.-240G>A rs16988823 0.00004
NM_000355.4(TCN2):c.1089T>G (p.His363Gln) rs772074405 0.00004
NM_000355.4(TCN2):c.114C>T (p.Leu38=) rs377673954 0.00004
NM_000355.4(TCN2):c.225C>T (p.Ser75=) rs776322424 0.00004
NM_000355.4(TCN2):c.282T>C (p.Gly94=) rs766893729 0.00004
NM_000355.4(TCN2):c.299C>T (p.Pro100Leu) rs752901101 0.00004
NM_000355.4(TCN2):c.422C>G (p.Ala141Gly) rs534564986 0.00004
NM_000355.4(TCN2):c.49C>G (p.Leu17Val) rs759462885 0.00004
NM_000355.4(TCN2):c.653G>A (p.Arg218Gln) rs759762355 0.00004
NM_000355.4(TCN2):c.737C>T (p.Thr246Ile) rs147738100 0.00004
NM_000365.6(TPI1):c.261C>T (p.Cys87=) rs370863694 0.00004
NM_000365.6(TPI1):c.690C>T (p.Phe230=) rs782267337 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_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_000398.7(CYB5R3):c.464-2A>C rs794728013 0.00004
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000517.6(HBA2):c.96-2A>G rs41457746 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000518.5(HBB):c.180G>A (p.Lys60=) rs34621955 0.00004
NM_000518.5(HBB):c.85C>T (p.Leu29=) rs33958088 0.00004
NM_000519.4(HBD):c.60C>T (p.Asn20=) rs777991732 0.00004
NM_000519.4(HBD):c.83C>A (p.Ala28Asp) rs751533248 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 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_000617.3(SLC11A2):c.1663G>A (p.Ala555Thr) rs550969378 0.00004
NM_000617.3(SLC11A2):c.523C>T (p.Leu175=) rs373590039 0.00004
NM_000619.3(IFNG):c.*465A>T rs532081510 0.00004
NM_000637.5(GSR):c.859G>A (p.Val287Met) rs750862066 0.00004
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817 0.00004
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391 0.00004
NM_000975.5(RPL11):c.117G>A (p.Val39=) rs746752024 0.00004
NM_000975.5(RPL11):c.6+16C>T rs369905301 0.00004
NM_000975.5(RPL11):c.6+8G>C rs201469553 0.00004
NM_000987.5(RPL26):c.169-5C>G rs746381469 0.00004
NM_001011.4(RPS7):c.285C>T (p.Ile95=) rs368931076 0.00004
NM_001011.4(RPS7):c.435C>T (p.Arg145=) rs142207795 0.00004
NM_001014.4(RPS10):c.-47A>G rs529023165 0.00004
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040 0.00004
NM_001014.5(RPS10):c.400+17C>G rs766650777 0.00004
NM_001014.5(RPS10):c.400C>T (p.Pro134Ser) rs759213353 0.00004
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 0.00004
NM_001014.5(RPS10):c.479G>A (p.Arg160His) rs139095177 0.00004
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00004
NM_001018113.3(FANCB):c.1323G>A (p.Glu441=) rs1015824799 0.00004
NM_001018113.3(FANCB):c.162A>G (p.Thr54=) rs748284861 0.00004
NM_001018113.3(FANCB):c.2394C>T (p.Val798=) rs190579053 0.00004
NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg) rs146131050 0.00004
NM_001018113.3(FANCB):c.513G>A (p.Gln171=) rs763353362 0.00004
NM_001018115.3(FANCD2):c.1134+10A>G rs758751922 0.00004
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218 0.00004
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met) rs373898927 0.00004
NM_001018115.3(FANCD2):c.1363A>G (p.Ser455Gly) rs112902928 0.00004
NM_001018115.3(FANCD2):c.1657-15A>G rs753419823 0.00004
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr) rs774801047 0.00004
NM_001018115.3(FANCD2):c.1740C>T (p.Thr580=) rs200041772 0.00004
NM_001018115.3(FANCD2):c.1802A>G (p.Asn601Ser) rs955122662 0.00004
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666 0.00004
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=) rs773593671 0.00004
NM_001018115.3(FANCD2):c.2309A>G (p.Lys770Arg) rs533245636 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001018115.3(FANCD2):c.2422A>G (p.Met808Val) rs375415579 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr) rs767659342 0.00004
NM_001018115.3(FANCD2):c.274-6_274-4del rs762278011 0.00004
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile) rs764903036 0.00004
NM_001018115.3(FANCD2):c.2744C>T (p.Ser915Leu) rs181274599 0.00004
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu) rs1479681259 0.00004
NM_001018115.3(FANCD2):c.3106-13T>G rs759732362 0.00004
NM_001018115.3(FANCD2):c.3193C>T (p.Leu1065=) rs1267933900 0.00004
NM_001018115.3(FANCD2):c.3276T>C (p.His1092=) rs773833838 0.00004
NM_001018115.3(FANCD2):c.3334A>G (p.Ser1112Gly) rs139929432 0.00004
NM_001018115.3(FANCD2):c.3343G>A (p.Val1115Ile) rs200800132 0.00004
NM_001018115.3(FANCD2):c.3483A>G (p.Gln1161=) rs143403347 0.00004
NM_001018115.3(FANCD2):c.3735G>A (p.Thr1245=) rs750130327 0.00004
NM_001018115.3(FANCD2):c.3896G>A (p.Arg1299His) rs781701459 0.00004
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met) rs775898191 0.00004
NM_001018115.3(FANCD2):c.4186-5T>C rs763801603 0.00004
NM_001018115.3(FANCD2):c.4281+107T>C rs767893462 0.00004
NM_001018115.3(FANCD2):c.4281+534G>A rs886057696 0.00004
NM_001018115.3(FANCD2):c.595C>G (p.Leu199Val) rs756336462 0.00004
NM_001018115.3(FANCD2):c.695+19A>G rs369890094 0.00004
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro) rs748724233 0.00004
NM_001022.4(RPS19):c.10G>T (p.Val4Phe) rs782693679 0.00004
NM_001022.4(RPS19):c.192G>C (p.Leu64=) rs144069838 0.00004
NM_001022.4(RPS19):c.6T>G (p.Pro2=) rs782512026 0.00004
NM_001022.4(RPS19):c.72-17C>G rs150151184 0.00004
NM_001029.5(RPS26):c.181+6T>G rs201848035 0.00004
NM_001029.5(RPS26):c.270A>G (p.Glu90=) rs139056836 0.00004
NM_001040436.3(YARS2):c.*595G>A rs961010458 0.00004
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) rs762786998 0.00004
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) rs745595833 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.10282C>T (p.Pro3428Ser) rs117570588 0.00004
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 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.2256C>T (p.His752=) rs140150973 0.00004
NM_001081.4(CUBN):c.258G>T (p.Gln86His) rs778278804 0.00004
NM_001081.4(CUBN):c.2923G>A (p.Glu975Lys) rs199835213 0.00004
NM_001081.4(CUBN):c.3496G>A (p.Gly1166Arg) rs201443885 0.00004
NM_001081.4(CUBN):c.3672+20C>T rs762191994 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4301A>G (p.His1434Arg) rs147373223 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp) rs146824506 0.00004
NM_001081.4(CUBN):c.5223G>A (p.Thr1741=) rs375723034 0.00004
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala) rs748558881 0.00004
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg) rs772400701 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.5549-5C>T rs377583171 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=) rs539618523 0.00004
NM_001081.4(CUBN):c.6214C>T (p.Arg2072Cys) rs149102355 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.6822-6C>T rs762758607 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.7107G>A (p.Gly2369=) rs145537365 0.00004
NM_001081.4(CUBN):c.7741A>C (p.Asn2581His) rs762764264 0.00004
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala) rs1007248288 0.00004
NM_001081.4(CUBN):c.8330A>G (p.Asn2777Ser) rs757561186 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.885C>T (p.Gly295=) rs776211726 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.9555T>G (p.Cys3185Trp) rs746114034 0.00004
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=) rs141513734 0.00004
NM_001081.4(CUBN):c.9878C>T (p.Ser3293Leu) rs566296480 0.00004
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) rs1564723449 0.00004
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu) rs528937278 0.00004
NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys) rs754850577 0.00004
NM_001083116.3(PRF1):c.97C>T (p.Arg33Cys) rs777782785 0.00004
NM_001113378.2(FANCI):c.-56T>C rs374177639 0.00004
NM_001113378.2(FANCI):c.1113-11T>C rs112986525 0.00004
NM_001113378.2(FANCI):c.1146C>T (p.Leu382=) rs773475822 0.00004
NM_001113378.2(FANCI):c.1200T>C (p.Asp400=) rs763959132 0.00004
NM_001113378.2(FANCI):c.1512+3A>G rs760846523 0.00004
NM_001113378.2(FANCI):c.157+7A>G rs145165730 0.00004
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr) rs147963936 0.00004
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser) rs866290050 0.00004
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn) rs374176569 0.00004
NM_001113378.2(FANCI):c.179C>G (p.Ala60Gly) rs757018470 0.00004
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343 0.00004
NM_001113378.2(FANCI):c.2097C>T (p.Tyr699=) rs148415946 0.00004
NM_001113378.2(FANCI):c.2146A>G (p.Ser716Gly) rs376641420 0.00004
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) rs752114490 0.00004
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) rs139857614 0.00004
NM_001113378.2(FANCI):c.2419A>G (p.Met807Val) rs750348956 0.00004
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=) rs145665176 0.00004
NM_001113378.2(FANCI):c.277C>T (p.Leu93=) rs995731282 0.00004
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=) rs368915464 0.00004
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) rs138432305 0.00004
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser) rs182154506 0.00004
NM_001113378.2(FANCI):c.3006+10C>T rs753914878 0.00004
NM_001113378.2(FANCI):c.304G>A (p.Gly102Arg) rs1207482417 0.00004
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln) rs772401747 0.00004
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=) rs185771112 0.00004
NM_001113378.2(FANCI):c.3720+10T>C rs756636181 0.00004
NM_001113378.2(FANCI):c.3721-15G>A rs552581027 0.00004
NM_001113378.2(FANCI):c.3734G>T (p.Arg1245Leu) rs771758909 0.00004
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr) rs776134519 0.00004
NM_001113378.2(FANCI):c.445+14G>A rs762378388 0.00004
NM_001113378.2(FANCI):c.550G>C (p.Val184Leu) rs571745030 0.00004
NM_001113378.2(FANCI):c.772A>G (p.Thr258Ala) rs773039171 0.00004
NM_001113378.2(FANCI):c.883-16_883-15del rs763087620 0.00004
NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile) rs199713555 0.00004
NM_001113378.2(FANCI):c.993G>A (p.Lys331=) rs146916445 0.00004
NM_001113525.2(ZNF276):c.*189C>T rs886052479 0.00004
NM_001113525.2(ZNF276):c.*2548T>C rs368372404 0.00004
NM_001113525.2(ZNF276):c.*313T>A rs529748804 0.00004
NM_001114134.2(EPB42):c.1265G>T (p.Gly422Val) rs538781293 0.00004
NM_001114134.2(EPB42):c.1288G>A (p.Asp430Asn) rs374417752 0.00004
NM_001114134.2(EPB42):c.210C>T (p.Ser70=) rs180830933 0.00004
NM_001114134.2(EPB42):c.712G>C (p.Glu238Gln) rs886051168 0.00004
NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met) rs985377446 0.00004
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991 0.00004
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00004
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=) rs751360534 0.00004
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=) rs765883841 0.00004
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His) rs534264493 0.00004
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=) rs148503847 0.00004
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val) rs201658390 0.00004
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser) rs375478086 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001360016.2(G6PD):c.121-13C>T rs782558415 0.00004
NM_001360016.2(G6PD):c.1287+18A>G rs782133149 0.00004
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=) rs138919671 0.00004
NM_001360016.2(G6PD):c.268-11G>A rs781983059 0.00004
NM_001360016.2(G6PD):c.435C>T (p.Thr145=) rs1451145498 0.00004
NM_001360016.2(G6PD):c.771-8G>A rs368790003 0.00004
NM_001360016.2(G6PD):c.813G>A (p.Val271=) rs782732134 0.00004
NM_001365304.2(LOC112694756):c.*1508+8T>C rs751467136 0.00004
NM_001374504.1(TMPRSS6):c.*35T>C rs199957731 0.00004
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg) rs137853119 0.00004
NM_001374504.1(TMPRSS6):c.2250+15C>T rs202222895 0.00004
NM_001374504.1(TMPRSS6):c.973+11del rs780218999 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_001386140.1(MTTP):c.*826T>C rs960548926 0.00004
NM_001386140.1(MTTP):c.*98T>A rs886058961 0.00004
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met) rs371307089 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.163G>A (p.Val55Met) rs369453726 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn) rs371023325 0.00004
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=) rs761984561 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val) rs764357849 0.00004
NM_001386140.1(MTTP):c.501+8C>T rs773537875 0.00004
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr) rs759200881 0.00004
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg) rs886058957 0.00004
NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp) rs202091014 0.00004
NM_002049.4(GATA1):c.621C>T (p.Cys207=) rs782785151 0.00004
NM_002049.4(GATA1):c.870+8C>T rs370706809 0.00004
NM_002049.4(GATA1):c.982G>A (p.Glu328Lys) rs1418790540 0.00004
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly) rs1183944927 0.00004
NM_002454.3(MTRR):c.1095T>C (p.Ser365=) rs1490381537 0.00004
NM_002454.3(MTRR):c.1147-16G>A rs143842562 0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_002454.3(MTRR):c.1362G>A (p.Ser454=) rs370978510 0.00004
NM_002454.3(MTRR):c.1557+18T>C rs367589908 0.00004
NM_002454.3(MTRR):c.1677-8C>T rs750976454 0.00004
NM_002454.3(MTRR):c.1677-9T>C rs200734299 0.00004
NM_002454.3(MTRR):c.1944T>C (p.Tyr648=) rs143418731 0.00004
NM_002454.3(MTRR):c.2073C>T (p.Arg691=) rs768387137 0.00004
NM_002454.3(MTRR):c.209G>A (p.Arg70His) rs777202031 0.00004
NM_002454.3(MTRR):c.27T>C (p.Ala9=) rs114748706 0.00004
NM_002454.3(MTRR):c.283+13C>G rs368391537 0.00004
NM_002454.3(MTRR):c.402-19G>A rs192942300 0.00004
NM_002454.3(MTRR):c.507G>C (p.Val169=) rs367609729 0.00004
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu) rs201557658 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.506G>A (p.Arg169His) rs776134250 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) rs377700348 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_002948.5(RPL15):c.172+5G>A rs369956511 0.00004
NM_003126.4(SPTA1):c.*319C>T rs561434223 0.00004
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val) rs748917509 0.00004
NM_003126.4(SPTA1):c.1330T>G (p.Ser444Ala) rs202138403 0.00004
NM_003126.4(SPTA1):c.1691G>A (p.Arg564Gln) rs762400241 0.00004
NM_003126.4(SPTA1):c.2484C>T (p.Ser828=) rs753103122 0.00004
NM_003126.4(SPTA1):c.2588-3T>C rs375142282 0.00004
NM_003126.4(SPTA1):c.3109G>A (p.Asp1037Asn) rs201519091 0.00004
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe) rs3737521 0.00004
NM_003126.4(SPTA1):c.4430G>A (p.Arg1477His) rs370469842 0.00004
NM_003126.4(SPTA1):c.5358G>A (p.Gly1786=) rs368542665 0.00004
NM_003126.4(SPTA1):c.854C>T (p.Pro285Leu) rs755259437 0.00004
NM_004629.2(FANCG):c.-93C>G rs532840867 0.00004
NM_004629.2(FANCG):c.1510A>C (p.Lys504Gln) rs1304316655 0.00004
NM_004629.2(FANCG):c.1521G>A (p.Ala507=) rs373411028 0.00004
NM_004629.2(FANCG):c.18C>T (p.Thr6=) rs777459203 0.00004
NM_004629.2(FANCG):c.293G>A (p.Arg98Gln) rs372854981 0.00004
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys) rs546023787 0.00004
NM_004629.2(FANCG):c.422G>A (p.Arg141His) rs775719850 0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_004629.2(FANCG):c.795A>T (p.Ala265=) rs537570311 0.00004
NM_004629.2(FANCG):c.832dup (p.Ala278fs) rs1290655946 0.00004
NM_004629.2(FANCG):c.880G>A (p.Gly294Arg) rs886063897 0.00004
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg) rs765722724 0.00004
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys) rs374984401 0.00004
NM_005050.4(ABCD4):c.1327+8C>T rs199678602 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_005050.4(ABCD4):c.1752+7G>A rs376322555 0.00004
NM_005050.4(ABCD4):c.362G>A (p.Arg121His) rs201744101 0.00004
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu) rs747354548 0.00004
NM_005050.4(ABCD4):c.699G>A (p.Ala233=) rs139683556 0.00004
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met) rs181943870 0.00004
NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=) rs144305111 0.00004
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259 0.00004
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser) rs139197943 0.00004
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu) rs775278986 0.00004
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln) rs56129764 0.00004
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=) rs775414253 0.00004
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn) rs779096061 0.00004
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His) rs758565772 0.00004
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915 0.00004
NM_005236.3(ERCC4):c.2430G>A (p.Ala810=) rs770255135 0.00004
NM_005236.3(ERCC4):c.2466G>A (p.Gln822=) rs757316495 0.00004
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=) rs191674905 0.00004
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr) rs374243778 0.00004
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys) rs373570729 0.00004
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu) rs148904556 0.00004
NM_005236.3(ERCC4):c.906T>C (p.Asp302=) rs148003381 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 0.00004
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125 0.00004
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=) rs782250826 0.00004
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390 0.00004
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=) rs782820533 0.00004
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) rs782407440 0.00004
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=) rs923295564 0.00004
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=) rs1422949741 0.00004
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg) rs1342469676 0.00004
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) rs782064674 0.00004
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=) rs782369645 0.00004
NM_005334.3(HCFC1):c.6004+14G>A rs371228352 0.00004
NM_005334.3(HCFC1):c.984C>T (p.Val328=) rs782409511 0.00004
NM_005431.2(XRCC2):c.271C>T (p.Arg91Trp) rs730882043 0.00004
NM_006296.7(VRK2):c.1303G>A (p.Asp435Asn) rs201610023 0.00004
NM_006363.6(SEC23B):c.*278T>C rs564007974 0.00004
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=) rs778443189 0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn) rs763130110 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser) rs138139624 0.00004
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr) rs749067830 0.00004
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=) rs780638574 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 0.00004
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=) rs779779804 0.00004
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=) rs534113895 0.00004
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=) rs368242382 0.00004
NM_006947.4(SRP72):c.620G>A (p.Arg207His) rs387907189 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) rs397509100 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_015077.4(SARM1):c.*3019G>A rs1207587504 0.00004
NM_015077.4(SARM1):c.*3073G>A rs1386304942 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.423G>C (p.Gly141=) rs1035201847 0.00004
NM_015506.3(MMACHC):c.42C>T (p.Asp14=) rs141562335 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro) rs779575471 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_015702.3(MMADHC):c.696+13C>A rs199528296 0.00004
NM_017875.4(SLC25A38):c.*370C>T rs886058472 0.00004
NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter) rs147431446 0.00004
NM_018062.4(FANCL):c.1050G>T (p.Gln350His) rs760542163 0.00004
NM_018062.4(FANCL):c.1052G>A (p.Ser351Asn) rs145260146 0.00004
NM_018062.4(FANCL):c.155+7T>C rs200849840 0.00004
NM_018062.4(FANCL):c.208G>A (p.Val70Ile) rs758754024 0.00004
NM_018062.4(FANCL):c.375-15T>C rs767038810 0.00004
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile) rs371154063 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp) rs201084086 0.00004
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn) rs199564543 0.00004
NM_018062.4(FANCL):c.739A>G (p.Met247Val) rs561027973 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His) rs150831620 0.00004
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln) rs777374813 0.00004
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=) rs779802824 0.00004
NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=) rs751525924 0.00004
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu) rs776133587 0.00004
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu) rs373481039 0.00004
NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=) rs139154326 0.00004
NM_018368.4(LMBRD1):c.562+19A>T rs200488577 0.00004
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn) rs370829456 0.00004
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val) rs772119224 0.00004
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=) rs529198629 0.00004
NM_018368.4(LMBRD1):c.918C>T (p.Ile306=) rs766287809 0.00004
NM_020937.4(FANCM):c.1051-12C>T rs374855389 0.00004
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) rs752364451 0.00004
NM_020937.4(FANCM):c.1373T>C (p.Ile458Thr) rs201596252 0.00004
NM_020937.4(FANCM):c.1528G>A (p.Gly510Ser) rs146291619 0.00004
NM_020937.4(FANCM):c.1752G>A (p.Arg584=) rs373696744 0.00004
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter) rs773014744 0.00004
NM_020937.4(FANCM):c.1960C>T (p.Arg654Trp) rs112784867 0.00004
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg) rs756249141 0.00004
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser) rs751262177 0.00004
NM_020937.4(FANCM):c.2311G>A (p.Glu771Lys) rs760204880 0.00004
NM_020937.4(FANCM):c.231C>T (p.Thr77=) rs377164876 0.00004
NM_020937.4(FANCM):c.232T>C (p.Ser78Pro) rs995677452 0.00004
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu) rs774142261 0.00004
NM_020937.4(FANCM):c.3104C>A (p.Thr1035Asn) rs1411559650 0.00004
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe) rs147299864 0.00004
NM_020937.4(FANCM):c.3405G>T (p.Leu1135=) rs1318683898 0.00004
NM_020937.4(FANCM):c.3433G>A (p.Asp1145Asn) rs753249049 0.00004
NM_020937.4(FANCM):c.3473C>T (p.Ser1158Phe) rs952413457 0.00004
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu) rs753876341 0.00004
NM_020937.4(FANCM):c.3882T>C (p.Val1294=) rs774984454 0.00004
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00004
NM_020937.4(FANCM):c.4222+5G>A rs201544504 0.00004
NM_020937.4(FANCM):c.4406A>G (p.Asp1469Gly) rs368457419 0.00004
NM_020937.4(FANCM):c.4820G>A (p.Cys1607Tyr) rs769869730 0.00004
NM_020937.4(FANCM):c.486A>C (p.Gln162His) rs149517732 0.00004
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr) rs369365858 0.00004
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr) rs767619000 0.00004
NM_020937.4(FANCM):c.5340+1G>T rs754297345 0.00004
NM_020937.4(FANCM):c.5532A>G (p.Gln1844=) rs970724368 0.00004
NM_020937.4(FANCM):c.5545C>A (p.Pro1849Thr) rs1359477676 0.00004
NM_020937.4(FANCM):c.5919C>A (p.Leu1973=) rs368568579 0.00004
NM_020937.4(FANCM):c.685G>T (p.Val229Leu) rs572322789 0.00004
NM_020937.4(FANCM):c.875C>T (p.Pro292Leu) rs781381334 0.00004
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp) rs567313440 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_021922.3(FANCE):c.1238-13G>C rs756557647 0.00004
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg) rs996436646 0.00004
NM_021922.3(FANCE):c.1509C>T (p.Asn503=) rs147166240 0.00004
NM_021922.3(FANCE):c.312C>T (p.Ala104=) rs575747751 0.00004
NM_021922.3(FANCE):c.499C>T (p.Leu167=) rs140563583 0.00004
NM_021922.3(FANCE):c.84C>T (p.Leu28=) rs1160645936 0.00004
NM_021922.3(FANCE):c.856-11C>G rs756018135 0.00004
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys) rs747078723 0.00004
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys) rs754914337 0.00004
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg) rs201528578 0.00004
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser) rs372935921 0.00004
NM_022725.4(FANCF):c.*1119T>A rs558392453 0.00004
NM_022725.4(FANCF):c.*412T>A rs1310827545 0.00004
NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe) rs368170054 0.00004
NM_022725.4(FANCF):c.126C>T (p.Arg42=) rs764431374 0.00004
NM_022725.4(FANCF):c.360C>T (p.Gly120=) rs775422716 0.00004
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser) rs377309460 0.00004
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly) rs540547787 0.00004
NM_022725.4(FANCF):c.714C>T (p.Val238=) rs774956968 0.00004
NM_022725.4(FANCF):c.796C>T (p.Arg266Cys) rs145666363 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala) rs148647206 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser) rs587782579 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_024675.4(PALB2):c.2834+13C>A rs551516577 0.00004
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn) rs778309339 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_025215.6(PUS1):c.-287G>C rs886049088 0.00004
NM_025215.6(PUS1):c.1134C>T (p.Ile378=) rs570364615 0.00004
NM_025215.6(PUS1):c.426C>T (p.Cys142=) rs554459931 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_030943.4(AMN):c.1141C>T (p.Pro381Ser) rs1345352857 0.00004
NM_030943.4(AMN):c.1176G>A (p.Arg392=) rs1052377523 0.00004
NM_030943.4(AMN):c.123C>G (p.Thr41=) rs758005290 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_030943.4(AMN):c.500C>T (p.Ser167Leu) rs774698023 0.00004
NM_032043.3(BRIP1):c.*524A>G rs371689236 0.00004
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr) rs535414791 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe) rs770306753 0.00004
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413 0.00004
NM_032043.3(BRIP1):c.1220G>A (p.Ser407Asn) rs759835916 0.00004
NM_032043.3(BRIP1):c.1443T>C (p.Gly481=) rs775431508 0.00004
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666 0.00004
NM_032043.3(BRIP1):c.1695A>C (p.Ser565=) rs142572387 0.00004
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile) rs777741543 0.00004
NM_032043.3(BRIP1):c.1935+7T>C rs201024366 0.00004
NM_032043.3(BRIP1):c.2097+20T>G rs771066665 0.00004
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu) rs748616469 0.00004
NM_032043.3(BRIP1):c.2193A>G (p.Glu731=) rs781712098 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=) rs776990704 0.00004
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His) rs367816363 0.00004
NM_032043.3(BRIP1):c.3224C>T (p.Ser1075Leu) rs183928474 0.00004
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558 0.00004
NM_032043.3(BRIP1):c.380A>G (p.Asp127Gly) rs1170174893 0.00004
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met) rs876658195 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe) rs533184563 0.00004
NM_032043.3(BRIP1):c.69G>A (p.Pro23=) rs45458996 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_032444.4(SLX4):c.1163+3A>G rs765509115 0.00004
NM_032444.4(SLX4):c.1216G>C (p.Glu406Gln) rs779596439 0.00004
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val) rs551823420 0.00004
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn) rs752899329 0.00004
NM_032444.4(SLX4):c.162C>A (p.Leu54=) rs776979024 0.00004
NM_032444.4(SLX4):c.1662C>T (p.Leu554=) rs375996119 0.00004
NM_032444.4(SLX4):c.1740C>T (p.Ser580=) rs200354014 0.00004
NM_032444.4(SLX4):c.1764C>T (p.His588=) rs201638593 0.00004
NM_032444.4(SLX4):c.1824G>A (p.Glu608=) rs1028896815 0.00004
NM_032444.4(SLX4):c.1846G>A (p.Val616Met) rs199863797 0.00004
NM_032444.4(SLX4):c.1873G>A (p.Ala625Thr) rs200755122 0.00004
NM_032444.4(SLX4):c.1888G>A (p.Gly630Ser) rs376620029 0.00004
NM_032444.4(SLX4):c.2023G>A (p.Gly675Arg) rs767473953 0.00004
NM_032444.4(SLX4):c.2046C>T (p.Gly682=) rs762708132 0.00004
NM_032444.4(SLX4):c.2193C>T (p.Asp731=) rs551541558 0.00004
NM_032444.4(SLX4):c.2340T>C (p.Ser780=) rs935117725 0.00004
NM_032444.4(SLX4):c.2346C>T (p.Leu782=) rs775150046 0.00004
NM_032444.4(SLX4):c.246C>T (p.Asn82=) rs1021522087 0.00004
NM_032444.4(SLX4):c.2490G>A (p.Ala830=) rs753595071 0.00004
NM_032444.4(SLX4):c.2500T>C (p.Leu834=) rs755984266 0.00004
NM_032444.4(SLX4):c.2613G>A (p.Ala871=) rs549139986 0.00004
NM_032444.4(SLX4):c.2623G>A (p.Glu875Lys) rs372976873 0.00004
NM_032444.4(SLX4):c.2864A>G (p.His955Arg) rs143694260 0.00004
NM_032444.4(SLX4):c.2991G>A (p.Pro997=) rs770736311 0.00004
NM_032444.4(SLX4):c.3009G>C (p.Glu1003Asp) rs142047326 0.00004
NM_032444.4(SLX4):c.3012C>T (p.Pro1004=) rs533668167 0.00004
NM_032444.4(SLX4):c.3108A>G (p.Leu1036=) rs751431046 0.00004
NM_032444.4(SLX4):c.3190G>A (p.Gly1064Arg) rs142079276 0.00004
NM_032444.4(SLX4):c.3235C>T (p.Pro1079Ser) rs373231418 0.00004
NM_032444.4(SLX4):c.3310C>T (p.Arg1104Trp) rs752187463 0.00004
NM_032444.4(SLX4):c.3439G>A (p.Glu1147Lys) rs974413437 0.00004
NM_032444.4(SLX4):c.3622C>G (p.Pro1208Ala) rs752941190 0.00004
NM_032444.4(SLX4):c.3668C>T (p.Pro1223Leu) rs376133540 0.00004
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn) rs372991604 0.00004
NM_032444.4(SLX4):c.3781C>T (p.Pro1261Ser) rs141860134 0.00004
NM_032444.4(SLX4):c.3782C>T (p.Pro1261Leu) rs374056556 0.00004
NM_032444.4(SLX4):c.3850G>A (p.Val1284Met) rs373107728 0.00004
NM_032444.4(SLX4):c.3873G>A (p.Thr1291=) rs751302297 0.00004
NM_032444.4(SLX4):c.3950C>T (p.Pro1317Leu) rs375172024 0.00004
NM_032444.4(SLX4):c.4034G>A (p.Arg1345His) rs757202686 0.00004
NM_032444.4(SLX4):c.4097G>A (p.Arg1366His) rs375108717 0.00004
NM_032444.4(SLX4):c.4109G>A (p.Ser1370Asn) rs747599109 0.00004
NM_032444.4(SLX4):c.4133C>T (p.Pro1378Leu) rs371580654 0.00004
NM_032444.4(SLX4):c.4157A>G (p.Gln1386Arg) rs774060802 0.00004
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val) rs953994627 0.00004
NM_032444.4(SLX4):c.4268T>C (p.Ile1423Thr) rs1056055996 0.00004
NM_032444.4(SLX4):c.4301C>T (p.Ser1434Leu) rs776332160 0.00004
NM_032444.4(SLX4):c.4390A>G (p.Ser1464Gly) rs750635051 0.00004
NM_032444.4(SLX4):c.4394G>A (p.Arg1465His) rs757128699 0.00004
NM_032444.4(SLX4):c.4429C>T (p.Pro1477Ser) rs912385590 0.00004
NM_032444.4(SLX4):c.4446C>T (p.Cys1482=) rs1331923595 0.00004
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=) rs200536796 0.00004
NM_032444.4(SLX4):c.4637-17T>G rs112687420 0.00004
NM_032444.4(SLX4):c.4740-19C>T rs770943153 0.00004
NM_032444.4(SLX4):c.4740-5G>A rs372656323 0.00004
NM_032444.4(SLX4):c.4740-6C>T rs377066518 0.00004
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys) rs181782315 0.00004
NM_032444.4(SLX4):c.4857G>A (p.Pro1619=) rs146423772 0.00004
NM_032444.4(SLX4):c.4864C>G (p.Gln1622Glu) rs1009469961 0.00004
NM_032444.4(SLX4):c.4871C>T (p.Pro1624Leu) rs751763192 0.00004
NM_032444.4(SLX4):c.489T>G (p.Gly163=) rs201211891 0.00004
NM_032444.4(SLX4):c.4964G>A (p.Arg1655Lys) rs149726415 0.00004
NM_032444.4(SLX4):c.499G>A (p.Glu167Lys) rs151018140 0.00004
NM_032444.4(SLX4):c.5141T>G (p.Leu1714Trp) rs569861974 0.00004
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val) rs752633436 0.00004
NM_032444.4(SLX4):c.5291C>T (p.Pro1764Leu) rs1031274414 0.00004
NM_032444.4(SLX4):c.5336G>A (p.Arg1779Gln) rs780261532 0.00004
NM_032444.4(SLX4):c.535+8G>C rs1438562094 0.00004
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His) rs560381786 0.00004
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=) rs368848191 0.00004
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn) rs760435859 0.00004
NM_032444.4(SLX4):c.5427C>T (p.Thr1809=) rs999815509 0.00004
NM_032444.4(SLX4):c.570T>G (p.Pro190=) rs764067884 0.00004
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu) rs199929086 0.00004
NM_032444.4(SLX4):c.800C>T (p.Ala267Val) rs752160984 0.00004
NM_032444.4(SLX4):c.950+3G>T rs748822509 0.00004
NM_033022.4(RPS24):c.-32C>T rs553773136 0.00004
NM_033022.4(RPS24):c.276A>T (p.Ala92=) rs763876559 0.00004
NM_033022.4(RPS24):c.391-14C>T rs201639485 0.00004
NM_033022.4(RPS24):c.69+10G>A rs767375848 0.00004
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407 0.00004
NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp) rs28910276 0.00004
NM_058216.3(RAD51C):c.52C>T (p.Pro18Ser) rs547142453 0.00004
NM_058216.3(RAD51C):c.546T>G (p.Leu182=) rs1476282276 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_058216.3(RAD51C):c.721G>A (p.Val241Met) rs184033132 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_058216.3(RAD51C):c.883G>A (p.Ala295Thr) rs746571208 0.00004
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln) rs367846829 0.00004
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208 0.00004
NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu) rs369959215 0.00004
NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala) rs369191223 0.00004
NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser) rs781838735 0.00004
NM_138477.4(CDAN1):c.*349A>G rs886051156 0.00004
NM_138477.4(CDAN1):c.2361G>A (p.Ala787=) rs377342875 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.3217C>T (p.Pro1073Ser) rs776881666 0.00004
NM_138477.4(CDAN1):c.324C>T (p.Ser108=) rs945794101 0.00004
NM_138477.4(CDAN1):c.3383C>T (p.Pro1128Leu) rs752497862 0.00004
NM_138477.4(CDAN1):c.3559-10T>C rs543020087 0.00004
NM_138477.4(CDAN1):c.527A>T (p.Glu176Val) rs373153188 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
NM_181697.3(PRDX1):c.515-1G>T rs751828470 0.00004
NM_182916.3(TRNT1):c.1026A>G (p.Pro342=) rs767388512 0.00004
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu) rs199931785 0.00004
NM_182916.3(TRNT1):c.149-5C>T rs200056840 0.00004
NM_182916.3(TRNT1):c.171C>T (p.His57=) rs760080058 0.00004
NM_182916.3(TRNT1):c.502G>T (p.Asp168Tyr) rs746543080 0.00004
NM_182916.3(TRNT1):c.538A>T (p.Lys180Ter) rs762873423 0.00004
NM_182916.3(TRNT1):c.567G>T (p.Gln189His) rs760683285 0.00004
NM_182916.3(TRNT1):c.630C>T (p.Asp210=) rs143629126 0.00004
NM_182916.3(TRNT1):c.744T>C (p.Gly248=) rs201105941 0.00004
NM_182916.3(TRNT1):c.759T>C (p.His253=) rs373038908 0.00004
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter) rs370699359 0.00004
NM_182916.3(TRNT1):c.88A>G (p.Met30Val) rs375274931 0.00004
NM_182916.3(TRNT1):c.900C>A (p.Phe300Leu) rs376431679 0.00004
NM_198253.3(TERT):c.*230T>C rs751808151 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_198253.3(TERT):c.2946T>C (p.Cys982=) rs201689770 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_206965.2(FTCD):c.1305-15T>C rs767156404 0.00004
NM_206965.2(FTCD):c.1363G>A (p.Ala455Thr) rs376572763 0.00004
NM_206965.2(FTCD):c.1380G>A (p.Ser460=) rs750312666 0.00004
NM_206965.2(FTCD):c.1429C>T (p.Arg477Trp) rs556952105 0.00004
NM_206965.2(FTCD):c.22G>A (p.Val8Ile) rs368109014 0.00004
NM_206965.2(FTCD):c.238+13G>A rs747108135 0.00004
NM_206965.2(FTCD):c.249C>A (p.Pro83=) rs773177344 0.00004
NM_206965.2(FTCD):c.35C>T (p.Ser12Leu) rs201753824 0.00004
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys) rs754659947 0.00004
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) rs201740830 0.00003
NM_000037.4(ANK1):c.*1031G>A rs867723923 0.00003
NM_000037.4(ANK1):c.*2172C>A rs886062930 0.00003
NM_000037.4(ANK1):c.*4C>T rs201561226 0.00003
NM_000037.4(ANK1):c.*64A>G rs767748017 0.00003
NM_000037.4(ANK1):c.1056G>C (p.Arg352Ser) rs375151253 0.00003
NM_000037.4(ANK1):c.1305+21G>A rs1432243965 0.00003
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile) rs150655828 0.00003
NM_000037.4(ANK1):c.1486C>T (p.Pro496Ser) rs138685137 0.00003
NM_000037.4(ANK1):c.2835G>A (p.Ala945=) rs771079681 0.00003
NM_000037.4(ANK1):c.3203G>A (p.Arg1068Gln) rs763961763 0.00003
NM_000037.4(ANK1):c.3770G>A (p.Arg1257His) rs777970142 0.00003
NM_000037.4(ANK1):c.4259-13T>C rs772895763 0.00003
NM_000037.4(ANK1):c.4390+9C>T rs751035092 0.00003
NM_000037.4(ANK1):c.4541A>C (p.Tyr1514Ser) rs755637526 0.00003
NM_000037.4(ANK1):c.4636G>A (p.Val1546Ile) rs1060130 0.00003
NM_000037.4(ANK1):c.5008G>A (p.Val1670Met) rs886062937 0.00003
NM_000037.4(ANK1):c.617G>A (p.Gly206Glu) rs886062943 0.00003
NM_000037.4(ANK1):c.639G>A (p.Ala213=) rs766500460 0.00003
NM_000059.4(BRCA2):c.*172G>A rs574944914 0.00003
NM_000059.4(BRCA2):c.*345A>G rs886050113 0.00003
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr) rs80358396 0.00003
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser) rs80358568 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn) rs276174886 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000096.4(CP):c.1038C>T (p.Ala346=) rs146895584 0.00003
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) rs386134127 0.00003
NM_000096.4(CP):c.1209-10C>T rs1553762033 0.00003
NM_000096.4(CP):c.1414C>A (p.Pro472Thr) rs749923683 0.00003
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973 0.00003
NM_000096.4(CP):c.1939T>A (p.Phe647Ile) rs755977561 0.00003
NM_000096.4(CP):c.1944C>T (p.Ser648=) rs376272235 0.00003
NM_000096.4(CP):c.260C>T (p.Pro87Leu) rs200823208 0.00003
NM_000096.4(CP):c.92C>T (p.Thr31Met) rs139978529 0.00003
NM_000135.4(FANCA):c.1006+19C>A rs371384565 0.00003
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp) rs150290184 0.00003
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val) rs748337423 0.00003
NM_000135.4(FANCA):c.1084-8T>C rs1466884693 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.135A>G (p.Glu45=) rs141820040 0.00003
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657 0.00003
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) rs143083764 0.00003
NM_000135.4(FANCA):c.1543A>C (p.Lys515Gln) rs1355805026 0.00003
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr) rs752323052 0.00003
NM_000135.4(FANCA):c.1593C>T (p.Tyr531=) rs762342197 0.00003
NM_000135.4(FANCA):c.1710G>A (p.Glu570=) rs17226344 0.00003
NM_000135.4(FANCA):c.1738G>A (p.Val580Met) rs769158149 0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769 0.00003
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) rs1060501885 0.00003
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283 0.00003
NM_000135.4(FANCA):c.1901-9T>C rs886052486 0.00003
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly) rs1306842168 0.00003
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg) rs1481598103 0.00003
NM_000135.4(FANCA):c.2014+12T>A rs370998253 0.00003
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) rs777032467 0.00003
NM_000135.4(FANCA):c.2222+9G>C rs774316742 0.00003
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys) rs1354855145 0.00003
NM_000135.4(FANCA):c.2317-7G>A rs763945801 0.00003
NM_000135.4(FANCA):c.2447C>T (p.Ala816Val) rs756082739 0.00003
NM_000135.4(FANCA):c.2504+12T>C rs1299971836 0.00003
NM_000135.4(FANCA):c.2661C>T (p.Asp887=) rs145941808 0.00003
NM_000135.4(FANCA):c.2847T>C (p.Thr949=) rs570751234 0.00003
NM_000135.4(FANCA):c.2851C>A (p.Arg951=) rs755546887 0.00003
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000135.4(FANCA):c.2964G>C (p.Leu988=) rs751495133 0.00003
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982 0.00003
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu) rs140412064 0.00003
NM_000135.4(FANCA):c.3024T>C (p.Phe1008=) rs970239067 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3240-4C>G rs778933108 0.00003
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His) rs752642945 0.00003
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656 0.00003
NM_000135.4(FANCA):c.3349-11C>A rs1190325114 0.00003
NM_000135.4(FANCA):c.3349-19G>T rs377180908 0.00003
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser) rs370731587 0.00003
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109 0.00003
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu) rs748263867 0.00003
NM_000135.4(FANCA):c.3514-17T>C rs1183051961 0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000135.4(FANCA):c.361G>A (p.Val121Met) rs780035612 0.00003
NM_000135.4(FANCA):c.3627-8T>G rs77877981 0.00003
NM_000135.4(FANCA):c.3627-9C>T rs547300201 0.00003
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=) rs780031277 0.00003
NM_000135.4(FANCA):c.3699G>A (p.Ala1233=) rs371798854 0.00003
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229 0.00003
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543 0.00003
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 0.00003
NM_000135.4(FANCA):c.385G>T (p.Ala129Ser) rs374945563 0.00003
NM_000135.4(FANCA):c.3924G>A (p.Leu1308=) rs775127240 0.00003
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr) rs925649874 0.00003
NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly) rs778544563 0.00003
NM_000135.4(FANCA):c.4038G>A (p.Ala1346=) rs755479861 0.00003
NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser) rs750839091 0.00003
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) rs1254151716 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000135.4(FANCA):c.426+13C>T rs755598667 0.00003
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993 0.00003
NM_000135.4(FANCA):c.4365C>T (p.Phe1455=) rs1440013855 0.00003
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881 0.00003
NM_000135.4(FANCA):c.522+9G>C rs113051956 0.00003
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323 0.00003
NM_000135.4(FANCA):c.576C>T (p.Ser192=) rs150448150 0.00003
NM_000135.4(FANCA):c.596+12A>G rs377151927 0.00003
NM_000135.4(FANCA):c.793-10A>T rs368979136 0.00003
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726 0.00003
NM_000136.3(FANCC):c.*1468C>T rs780382671 0.00003
NM_000136.3(FANCC):c.*2052G>C rs539833295 0.00003
NM_000136.3(FANCC):c.*2246G>T rs1367873898 0.00003
NM_000136.3(FANCC):c.*2564C>T rs945363629 0.00003
NM_000136.3(FANCC):c.1073-20G>A rs781438798 0.00003
NM_000136.3(FANCC):c.111C>T (p.His37=) rs751219956 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly) rs863224608 0.00003
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_000136.3(FANCC):c.1353C>T (p.Gly451=) rs745338413 0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724 0.00003
NM_000136.3(FANCC):c.146A>G (p.Tyr49Cys) rs761845692 0.00003
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573 0.00003
NM_000136.3(FANCC):c.1611C>A (p.Gly537=) rs1027358273 0.00003
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln) rs730881729 0.00003
NM_000136.3(FANCC):c.165+8del rs1281745385 0.00003
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys) rs375921240 0.00003
NM_000136.3(FANCC):c.338G>C (p.Trp113Ser) rs1064793405 0.00003
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000136.3(FANCC):c.46A>T (p.Met16Leu) rs1390412870 0.00003
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln) rs755283850 0.00003
NM_000136.3(FANCC):c.528T>C (p.Ala176=) rs1237481707 0.00003
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln) rs889715188 0.00003
NM_000136.3(FANCC):c.830A>T (p.Lys277Ile) rs1349398241 0.00003
NM_000136.3(FANCC):c.902C>A (p.Ala301Glu) rs553689536 0.00003
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351 0.00003
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) rs374915316 0.00003
NM_000175.5(GPI):c.-9A>G rs552574934 0.00003
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00003
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000186.4(CFH):c.526T>C (p.Phe176Leu) rs762132970 0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr) rs183474263 0.00003
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro) rs121913582 0.00003
NM_000254.3(MTR):c.1275A>G (p.Pro425=) rs202147344 0.00003
NM_000254.3(MTR):c.1943G>A (p.Arg648His) rs751565093 0.00003
NM_000254.3(MTR):c.2043+18G>C rs763911562 0.00003
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile) rs201755946 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_000254.3(MTR):c.2473+14A>G rs193210789 0.00003
NM_000254.3(MTR):c.2474-19_2474-18insA rs777429098 0.00003
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro) rs146569329 0.00003
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter) rs536238004 0.00003
NM_000254.3(MTR):c.3135C>T (p.His1045=) rs775738419 0.00003
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser) rs780045701 0.00003
NM_000254.3(MTR):c.3636T>C (p.Ala1212=) rs767100856 0.00003
NM_000254.3(MTR):c.899C>T (p.Thr300Met) rs201871910 0.00003
NM_000289.6(PFKM):c.*668G>T rs535423254 0.00003
NM_000289.6(PFKM):c.1127+10T>C rs759084382 0.00003
NM_000289.6(PFKM):c.1158G>A (p.Lys386=) rs1216904332 0.00003
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888 0.00003
NM_000289.6(PFKM):c.1311T>C (p.His437=) rs369182995 0.00003
NM_000289.6(PFKM):c.1413-20C>T rs771066629 0.00003
NM_000289.6(PFKM):c.2092+17C>T rs773403779 0.00003
NM_000289.6(PFKM):c.2092+9G>T rs371778846 0.00003
NM_000289.6(PFKM):c.2233C>T (p.Leu745=) rs771535478 0.00003
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=) rs374418157 0.00003
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser) rs143485300 0.00003
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612 0.00003
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp) rs142238268 0.00003
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447 0.00003
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402 0.00003
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.1431+15G>T rs886052999 0.00003
NM_000342.4(SLC4A1):c.2401A>C (p.Ser801Arg) rs775095594 0.00003
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys) rs749020872 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000342.4(SLC4A1):c.876+8A>G rs750432041 0.00003
NM_000342.4(SLC4A1):c.877-3dup rs747181893 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.1107-10C>T rs764096609 0.00003
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe) rs781309237 0.00003
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315 0.00003
NM_000355.4(TCN2):c.70C>T (p.Pro24Ser) rs755866662 0.00003
NM_000355.4(TCN2):c.753+13C>A rs771453023 0.00003
NM_000355.4(TCN2):c.787C>G (p.Leu263Val) rs201848801 0.00003
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742 0.00003
NM_000365.6(TPI1):c.*260G>A rs782764628 0.00003
NM_000365.6(TPI1):c.599C>T (p.Ala200Val) rs139532537 0.00003
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00003
NM_000365.6(TPI1):c.730A>G (p.Ile244Val) rs143000041 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_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015 0.00003
NM_000375.3(UROS):c.661-31T>G rs750180293 0.00003
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834 0.00003
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys) rs747610107 0.00003
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys) rs747140161 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000519.3(HBD):c.-180A>G rs186432678 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_000617.3(SLC11A2):c.635G>T (p.Gly212Val) rs121918367 0.00003
NM_000637.5(GSR):c.242G>A (p.Arg81His) rs767823911 0.00003
NM_000969.5(RPL5):c.269T>C (p.Val90Ala) rs775952185 0.00003
NM_000969.5(RPL5):c.320G>A (p.Arg107His) rs751845365 0.00003
NM_000969.5(RPL5):c.517A>G (p.Ile173Val) rs754245145 0.00003
NM_000969.5(RPL5):c.599T>C (p.Met200Thr) rs773325598 0.00003
NM_000996.4(RPL35A):c.184G>T (p.Gly62Cys) rs146882967 0.00003
NM_000996.4(RPL35A):c.327G>A (p.Arg109=) rs754407977 0.00003
NM_001011.4(RPS7):c.-86C>T rs186304514 0.00003
NM_001011.4(RPS7):c.63C>T (p.Ser21=) rs145376788 0.00003
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) rs771063992 0.00003
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) rs755445102 0.00003
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu) rs143585647 0.00003
NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His) rs776805534 0.00003
NM_001018113.3(FANCB):c.1638A>T (p.Gly546=) rs753355273 0.00003
NM_001018113.3(FANCB):c.1899A>G (p.Leu633=) rs1232908863 0.00003
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918 0.00003
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) rs780116069 0.00003
NM_001018113.3(FANCB):c.256A>G (p.Arg86Gly) rs1041477988 0.00003
NM_001018113.3(FANCB):c.510T>G (p.Ile170Met) rs775216604 0.00003
NM_001018113.3(FANCB):c.677T>C (p.Ile226Thr) rs1275915380 0.00003
NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu) rs1316961996 0.00003
NM_001018113.3(FANCB):c.7A>G (p.Ser3Gly) rs139111718 0.00003
NM_001018115.3(FANCD2):c.1011C>A (p.Ser337Arg) rs748171507 0.00003
NM_001018115.3(FANCD2):c.1221T>C (p.Ile407=) rs745305575 0.00003
NM_001018115.3(FANCD2):c.1234A>G (p.Ile412Val) rs776482951 0.00003
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) rs375412395 0.00003
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu) rs750534583 0.00003
NM_001018115.3(FANCD2):c.1545+9T>C rs769459614 0.00003
NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val) rs766098612 0.00003
NM_001018115.3(FANCD2):c.1766+7G>A rs563561289 0.00003
NM_001018115.3(FANCD2):c.1948-7C>T rs757782326 0.00003
NM_001018115.3(FANCD2):c.2012T>G (p.Val671Gly) rs373337896 0.00003
NM_001018115.3(FANCD2):c.2116C>G (p.Gln706Glu) rs147532349 0.00003
NM_001018115.3(FANCD2):c.2196G>A (p.Pro732=) rs200848801 0.00003
NM_001018115.3(FANCD2):c.2238C>T (p.Asn746=) rs35817402 0.00003
NM_001018115.3(FANCD2):c.2361T>G (p.Phe787Leu) rs765365413 0.00003
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser) rs758718558 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001018115.3(FANCD2):c.2716-15G>A rs771386311 0.00003
NM_001018115.3(FANCD2):c.273+14C>T rs749849880 0.00003
NM_001018115.3(FANCD2):c.2942C>T (p.Thr981Ile) rs1468736218 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_001018115.3(FANCD2):c.3047T>A (p.Val1016Asp) rs767860064 0.00003
NM_001018115.3(FANCD2):c.3209A>T (p.His1070Leu) rs759516610 0.00003
NM_001018115.3(FANCD2):c.3419T>G (p.Val1140Gly) rs781064333 0.00003
NM_001018115.3(FANCD2):c.3466+9C>G rs33998487 0.00003
NM_001018115.3(FANCD2):c.3524G>A (p.Ser1175Asn) rs151316403 0.00003
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met) rs555539811 0.00003
NM_001018115.3(FANCD2):c.4214A>T (p.Gln1405Leu) rs746871581 0.00003
NM_001018115.3(FANCD2):c.571-3C>T rs191386799 0.00003
NM_001018115.3(FANCD2):c.65-18A>C rs747412191 0.00003
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val) rs770985541 0.00003
NM_001018115.3(FANCD2):c.865G>A (p.Val289Ile) rs371273577 0.00003
NM_001022.4(RPS19):c.1-7C>T rs782801643 0.00003
NM_001022.4(RPS19):c.255C>T (p.Asn85=) rs781860325 0.00003
NM_001022.4(RPS19):c.372A>T (p.Thr124=) rs782722836 0.00003
NM_001022.4(RPS19):c.411+6G>C rs138397598 0.00003
NM_001029.5(RPS26):c.181+10T>G rs201191387 0.00003
NM_001063.4(TF):c.686T>C (p.Ile229Thr) rs764361166 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.10710A>G (p.Thr3570=) rs756639822 0.00003
NM_001081.4(CUBN):c.10764+1G>A rs374982220 0.00003
NM_001081.4(CUBN):c.10845C>T (p.Ser3615=) rs146137990 0.00003
NM_001081.4(CUBN):c.1351G>A (p.Val451Ile) rs746956601 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.2452G>A (p.Gly818Arg) rs141274853 0.00003
NM_001081.4(CUBN):c.260A>G (p.Lys87Arg) rs754451499 0.00003
NM_001081.4(CUBN):c.2863G>A (p.Gly955Ser) rs567450170 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.4169-16C>T rs779680778 0.00003
NM_001081.4(CUBN):c.4721T>C (p.Met1574Thr) rs144132364 0.00003
NM_001081.4(CUBN):c.4739C>T (p.Thr1580Met) rs550619948 0.00003
NM_001081.4(CUBN):c.4773C>T (p.Val1591=) rs368529044 0.00003
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=) rs199509575 0.00003
NM_001081.4(CUBN):c.5877G>A (p.Glu1959=) rs368934375 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=) rs534571792 0.00003
NM_001081.4(CUBN):c.6195T>C (p.Thr2065=) rs758743854 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.7026G>A (p.Gly2342=) rs370800945 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293 0.00003
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=) rs151303316 0.00003
NM_001081.4(CUBN):c.8493T>C (p.Cys2831=) rs748450206 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_001081.4(CUBN):c.9166G>A (p.Ala3056Thr) rs569915247 0.00003
NM_001081.4(CUBN):c.9897A>G (p.Pro3299=) rs143405367 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) rs189650890 0.00003
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn) rs779399414 0.00003
NM_001083116.3(PRF1):c.98G>A (p.Arg33His) rs531407289 0.00003
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met) rs1060501897 0.00003
NM_001113378.2(FANCI):c.1113C>T (p.Ser371=) rs780568718 0.00003
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) rs201002833 0.00003
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly) rs200007225 0.00003
NM_001113378.2(FANCI):c.1537A>G (p.Met513Val) rs148780626 0.00003
NM_001113378.2(FANCI):c.1699-11C>T rs753750358 0.00003
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp) rs779310267 0.00003
NM_001113378.2(FANCI):c.1890+3A>G rs886051510 0.00003
NM_001113378.2(FANCI):c.1891-2A>G rs776329920 0.00003
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys) rs143105092 0.00003
NM_001113378.2(FANCI):c.1993-6C>T rs1419780732 0.00003
NM_001113378.2(FANCI):c.2170-6T>C rs764818761 0.00003
NM_001113378.2(FANCI):c.2200A>G (p.Ser734Gly) rs780147810 0.00003
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile) rs781175970 0.00003
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) rs768234660 0.00003
NM_001113378.2(FANCI):c.2504G>A (p.Ser835Asn) rs778626493 0.00003
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His) rs777483611 0.00003
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly) rs545673916 0.00003
NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met) rs771106622 0.00003
NM_001113378.2(FANCI):c.2803+15A>T rs372343510 0.00003
NM_001113378.2(FANCI):c.284T>A (p.Leu95Gln) rs201553891 0.00003
NM_001113378.2(FANCI):c.2907A>C (p.Leu969Phe) rs568094959 0.00003
NM_001113378.2(FANCI):c.2936G>T (p.Ser979Ile) rs769453869 0.00003
NM_001113378.2(FANCI):c.3053G>A (p.Ser1018Asn) rs773696866 0.00003
NM_001113378.2(FANCI):c.3093G>C (p.Leu1031Phe) rs546822799 0.00003
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys) rs138702591 0.00003
NM_001113378.2(FANCI):c.3186+3A>G rs371788349 0.00003
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069 0.00003
NM_001113378.2(FANCI):c.326C>G (p.Ala109Gly) rs772968604 0.00003
NM_001113378.2(FANCI):c.3271C>G (p.Gln1091Glu) rs578060150 0.00003
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=) rs964069381 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe) rs202066338 0.00003
NM_001113378.2(FANCI):c.3817-12A>G rs545402956 0.00003
NM_001113378.2(FANCI):c.3835A>G (p.Met1279Val) rs778056909 0.00003
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu) rs374908061 0.00003
NM_001113378.2(FANCI):c.3886A>G (p.Met1296Val) rs765052471 0.00003
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619 0.00003
NM_001113378.2(FANCI):c.445+19T>C rs1340366575 0.00003
NM_001113378.2(FANCI):c.446-9C>T rs761356536 0.00003
NM_001113378.2(FANCI):c.488C>A (p.Thr163Asn) rs574154974 0.00003
NM_001113378.2(FANCI):c.579T>C (p.Phe193=) rs746361181 0.00003
NM_001113378.2(FANCI):c.595T>C (p.Leu199=) rs373954813 0.00003
NM_001113378.2(FANCI):c.601A>G (p.Met201Val) rs774564150 0.00003
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175 0.00003
NM_001113378.2(FANCI):c.883-9C>T rs563201817 0.00003
NM_001113525.2(ZNF276):c.*354G>A rs370357192 0.00003
NM_001113525.2(ZNF276):c.1574+24C>G rs17233819 0.00003
NM_001114134.2(EPB42):c.1173C>T (p.Ala391=) rs779896054 0.00003
NM_001114134.2(EPB42):c.1964C>T (p.Thr655Met) rs369127523 0.00003
NM_001142285.2(RPS24):c.526G>A (p.Val176Met) rs558584969 0.00003
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 0.00003
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser) rs148828956 0.00003
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=) rs773402743 0.00003
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys) rs145582724 0.00003
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr) rs886051893 0.00003
NM_001243177.4(ALDOA):c.945G>C (p.Val315=) rs780658545 0.00003
NM_001360016.2(G6PD):c.1023C>T (p.Val341=) rs201321423 0.00003
NM_001360016.2(G6PD):c.1051+11C>G rs1258960910 0.00003
NM_001360016.2(G6PD):c.1068G>A (p.Leu356=) rs368898047 0.00003
NM_001360016.2(G6PD):c.1131C>T (p.Ala377=) rs782432107 0.00003
NM_001360016.2(G6PD):c.1356C>T (p.Phe452=) rs370808115 0.00003
NM_001360016.2(G6PD):c.1365-7C>T rs1168711308 0.00003
NM_001360016.2(G6PD):c.1482G>A (p.Glu494=) rs1230419397 0.00003
NM_001360016.2(G6PD):c.158+13C>T rs990745079 0.00003
NM_001360016.2(G6PD):c.644+20G>A rs782108377 0.00003
NM_001360016.2(G6PD):c.645-7C>T rs782468778 0.00003
NM_001360016.2(G6PD):c.864+14C>T rs782416820 0.00003
NM_001360016.2(G6PD):c.864+5G>A rs372876649 0.00003
NM_001365304.2(LOC112694756):c.*834-9C>T rs1057523259 0.00003
NM_001374504.1(TMPRSS6):c.*303T>G rs886057490 0.00003
NM_001374504.1(TMPRSS6):c.*576C>A rs139014458 0.00003
NM_001386140.1(MTTP):c.1668C>T (p.Asp556=) rs751421159 0.00003
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala) rs368679444 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu) rs765341695 0.00003
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro) rs1249405862 0.00003
NM_002049.4(GATA1):c.1024G>A (p.Gly342Ser) rs1340713003 0.00003
NM_002049.4(GATA1):c.220+17G>T rs782352992 0.00003
NM_002049.4(GATA1):c.237A>G (p.Pro79=) rs1557020162 0.00003
NM_002049.4(GATA1):c.266G>A (p.Gly89Glu) rs781920985 0.00003
NM_002049.4(GATA1):c.479A>G (p.Asn160Ser) rs59609788 0.00003
NM_002049.4(GATA1):c.600G>A (p.Glu200=) rs781977639 0.00003
NM_002049.4(GATA1):c.663C>G (p.Gly221=) rs782282009 0.00003
NM_002049.4(GATA1):c.745-9G>A rs371005242 0.00003
NM_002049.4(GATA1):c.950G>A (p.Arg317Gln) rs782236381 0.00003
NM_002454.3(MTRR):c.1080A>C (p.Ile360=) rs969738618 0.00003
NM_002454.3(MTRR):c.1188T>C (p.Ala396=) rs763760088 0.00003
NM_002454.3(MTRR):c.1287C>T (p.Leu429=) rs551079367 0.00003
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile) rs755408035 0.00003
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) rs374239028 0.00003
NM_002454.3(MTRR):c.246G>C (p.Pro82=) rs149300444 0.00003
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp) rs773984668 0.00003
NM_002454.3(MTRR):c.402-20C>T rs565590605 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_002485.5(NBN):c.302T>C (p.Val101Ala) rs185493105 0.00003
NM_002485.5(NBN):c.509C>T (p.Pro170Leu) rs587782411 0.00003
NM_002485.5(NBN):c.613A>G (p.Ile205Val) rs730881845 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_002485.5(NBN):c.935T>C (p.Leu312Ser) rs371480039 0.00003
NM_002693.3(POLG):c.3644-116T>C rs777372106 0.00003
NM_003126.4(SPTA1):c.1308C>T (p.Leu436=) rs777881486 0.00003
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met) rs147677656 0.00003
NM_003126.4(SPTA1):c.1350+13A>G rs746352918 0.00003
NM_003126.4(SPTA1):c.1409G>A (p.Arg470His) rs370498187 0.00003
NM_003126.4(SPTA1):c.1489G>T (p.Ala497Ser) rs200722082 0.00003
NM_003126.4(SPTA1):c.2971C>T (p.Arg991Cys) rs565611676 0.00003
NM_003126.4(SPTA1):c.3166C>T (p.Arg1056Cys) rs762361277 0.00003
NM_003126.4(SPTA1):c.4287G>T (p.Leu1429=) rs886045384 0.00003
NM_003126.4(SPTA1):c.480C>G (p.Phe160Leu) rs764615925 0.00003
NM_003126.4(SPTA1):c.521T>C (p.Ile174Thr) rs1221196778 0.00003
NM_003126.4(SPTA1):c.5270G>A (p.Arg1757His) rs779823270 0.00003
NM_003126.4(SPTA1):c.6390C>T (p.Thr2130=) rs756418963 0.00003
NM_003126.4(SPTA1):c.7198G>T (p.Gly2400Cys) rs774112593 0.00003
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_004629.2(FANCG):c.1062C>T (p.Cys354=) rs745928033 0.00003
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala) rs375757497 0.00003
NM_004629.2(FANCG):c.1298G>A (p.Arg433Gln) rs748738986 0.00003
NM_004629.2(FANCG):c.1441G>C (p.Glu481Gln) rs772460728 0.00003
NM_004629.2(FANCG):c.1459A>C (p.Thr487Pro) rs1414696119 0.00003
NM_004629.2(FANCG):c.1704T>C (p.Thr568=) rs759675304 0.00003
NM_004629.2(FANCG):c.1718G>C (p.Arg573Thr) rs200466062 0.00003
NM_004629.2(FANCG):c.1758G>T (p.Leu586=) rs549578835 0.00003
NM_004629.2(FANCG):c.1768C>G (p.Pro590Ala) rs541868979 0.00003
NM_004629.2(FANCG):c.1805C>A (p.Pro602His) rs370950631 0.00003
NM_004629.2(FANCG):c.181C>T (p.Pro61Ser) rs931163229 0.00003
NM_004629.2(FANCG):c.380G>A (p.Arg127His) rs780985218 0.00003
NM_004629.2(FANCG):c.398C>T (p.Pro133Leu) rs1270561172 0.00003
NM_004629.2(FANCG):c.730G>A (p.Val244Met) rs746248064 0.00003
NM_004629.2(FANCG):c.867C>T (p.Leu289=) rs755031729 0.00003
NM_004629.2(FANCG):c.927C>T (p.Ala309=) rs370002843 0.00003
NM_004629.2(FANCG):c.934G>A (p.Val312Ile) rs530535955 0.00003
NM_005050.4(ABCD4):c.1028+9G>A rs982830151 0.00003
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln) rs747987460 0.00003
NM_005050.4(ABCD4):c.1422G>T (p.Val474=) rs763882047 0.00003
NM_005050.4(ABCD4):c.24C>G (p.Pro8=) rs371692280 0.00003
NM_005050.4(ABCD4):c.425+7G>A rs375608814 0.00003
NM_005142.3(CBLIF):c.1221C>T (p.His407=) rs148989677 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_005236.3(ERCC4):c.109C>T (p.Arg37Cys) rs144602005 0.00003
NM_005236.3(ERCC4):c.1431G>T (p.Arg477=) rs760367072 0.00003
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
NM_005236.3(ERCC4):c.1758C>G (p.Thr586=) rs367595904 0.00003
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00003
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=) rs565249189 0.00003
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His) rs762543560 0.00003
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln) rs144058769 0.00003
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn) rs1567253853 0.00003
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val) rs141790888 0.00003
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His) rs1211543560 0.00003
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg) rs775257742 0.00003
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile) rs763811136 0.00003
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val) rs941012957 0.00003
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr) rs764093404 0.00003
NM_005236.3(ERCC4):c.69G>A (p.Val23=) rs201606798 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro) rs1457864707 0.00003
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala) rs200596978 0.00003
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala) rs777183693 0.00003
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) rs782047045 0.00003
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=) rs782036588 0.00003
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=) rs201614319 0.00003
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) rs1603296223 0.00003
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) rs782099695 0.00003
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg) rs1439756712 0.00003
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724 0.00003
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) rs781889604 0.00003
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=) rs201491358 0.00003
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) rs782457287 0.00003
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His) rs111385795 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) rs1252960661 0.00003
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) rs782313635 0.00003
NM_005334.3(HCFC1):c.504-9C>T rs781961920 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_005334.3(HCFC1):c.5379+20G>A rs371712410 0.00003
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=) rs1557112253 0.00003
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=) rs369626014 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu) rs143856570 0.00003
NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser) rs778348206 0.00003
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser) rs375734554 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) rs577667739 0.00003
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=) rs755571737 0.00003
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=) rs778522408 0.00003
NM_006563.5(KLF1):c.*263C>T rs867980189 0.00003
NM_006947.4(SRP72):c.*1678C>T rs886059503 0.00003
NM_006947.4(SRP72):c.*1764A>G rs192226722 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_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs) rs80357914 0.00003
NM_015077.4(SARM1):c.*1097T>C rs542078425 0.00003
NM_015077.4(SARM1):c.*2034C>T rs1435694827 0.00003
NM_015077.4(SARM1):c.*2364T>G rs886052749 0.00003
NM_015077.4(SARM1):c.*3241G>A rs886052752 0.00003
NM_015077.4(SARM1):c.*562C>G rs886052744 0.00003
NM_015077.4(SARM1):c.*877T>C rs886052746 0.00003
NM_015506.3(MMACHC):c.156A>G (p.Val52=) rs763931975 0.00003
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_015506.3(MMACHC):c.82-10T>C rs778416032 0.00003
NM_015506.3(MMACHC):c.831T>C (p.Pro277=) rs1322086708 0.00003
NM_015702.3(MMADHC):c.*267T>C rs546054980 0.00003
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614 0.00003
NM_017875.4(SLC25A38):c.*395G>A rs576792249 0.00003
NM_018062.4(FANCL):c.*515A>C rs971589098 0.00003
NM_018062.4(FANCL):c.1121A>G (p.Lys374Arg) rs745544496 0.00003
NM_018062.4(FANCL):c.317C>T (p.Pro106Leu) rs771772034 0.00003
NM_018062.4(FANCL):c.374+13T>C rs776463455 0.00003
NM_018062.4(FANCL):c.375-13C>T rs761490451 0.00003
NM_018062.4(FANCL):c.375-6C>T rs773848254 0.00003
NM_018062.4(FANCL):c.471+12G>A rs369756342 0.00003
NM_018062.4(FANCL):c.822-13C>T rs756047554 0.00003
NM_018062.4(FANCL):c.883C>T (p.Arg295Cys) rs376528147 0.00003
NM_018062.4(FANCL):c.948C>T (p.Asp316=) rs1409256364 0.00003
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val) rs561540830 0.00003
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val) rs771282181 0.00003
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 0.00003
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly) rs759703455 0.00003
NM_020897.3(HCN3):c.*1004C>T rs937795186 0.00003
NM_020937.4(FANCM):c.1029A>G (p.Lys343=) rs777761113 0.00003
NM_020937.4(FANCM):c.11G>A (p.Arg4Gln) rs140744346 0.00003
NM_020937.4(FANCM):c.1397-4A>G rs765857460 0.00003
NM_020937.4(FANCM):c.1602C>T (p.Asp534=) rs201951080 0.00003
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507 0.00003
NM_020937.4(FANCM):c.1706G>A (p.Arg569His) rs754308821 0.00003
NM_020937.4(FANCM):c.1756G>C (p.Val586Leu) rs775663650 0.00003
NM_020937.4(FANCM):c.1788+19A>G rs373941822 0.00003
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro) rs777379515 0.00003
NM_020937.4(FANCM):c.2240A>G (p.His747Arg) rs181827583 0.00003
NM_020937.4(FANCM):c.2286G>A (p.Met762Ile) rs768567945 0.00003
NM_020937.4(FANCM):c.2358A>C (p.Gln786His) rs367741599 0.00003
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn) rs752560995 0.00003
NM_020937.4(FANCM):c.2762G>A (p.Cys921Tyr) rs752914487 0.00003
NM_020937.4(FANCM):c.3112C>T (p.Leu1038=) rs566514015 0.00003
NM_020937.4(FANCM):c.3232C>T (p.Pro1078Ser) rs189723011 0.00003
NM_020937.4(FANCM):c.3407T>C (p.Leu1136Ser) rs770989272 0.00003
NM_020937.4(FANCM):c.3544C>T (p.Leu1182Phe) rs1180319315 0.00003
NM_020937.4(FANCM):c.4220A>G (p.Glu1407Gly) rs946759727 0.00003
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter) rs751954386 0.00003
NM_020937.4(FANCM):c.4318-3T>G rs367696095 0.00003
NM_020937.4(FANCM):c.4433G>A (p.Cys1478Tyr) rs553521590 0.00003
NM_020937.4(FANCM):c.4456G>A (p.Val1486Ile) rs192438733 0.00003
NM_020937.4(FANCM):c.4515+10T>C rs747493198 0.00003
NM_020937.4(FANCM):c.4578T>G (p.Val1526=) rs368982372 0.00003
NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp) rs375640203 0.00003
NM_020937.4(FANCM):c.461G>C (p.Cys154Ser) rs766755069 0.00003
NM_020937.4(FANCM):c.4672+11T>C rs778527745 0.00003
NM_020937.4(FANCM):c.4872T>G (p.Cys1624Trp) rs919256712 0.00003
NM_020937.4(FANCM):c.4878T>C (p.Asp1626=) rs150389713 0.00003
NM_020937.4(FANCM):c.5409T>C (p.Ala1803=) rs141214060 0.00003
NM_020937.4(FANCM):c.544T>A (p.Cys182Ser) rs992613830 0.00003
NM_020937.4(FANCM):c.5603A>G (p.Gln1868Arg) rs764031097 0.00003
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg) rs148945714 0.00003
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu) rs201383385 0.00003
NM_020937.4(FANCM):c.5745A>G (p.Thr1915=) rs535316621 0.00003
NM_020937.4(FANCM):c.5772C>A (p.Thr1924=) rs377475907 0.00003
NM_020937.4(FANCM):c.5823C>T (p.Thr1941=) rs766031579 0.00003
NM_020937.4(FANCM):c.5898T>C (p.Asn1966=) rs780323169 0.00003
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=) rs949619907 0.00003
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=) rs756119280 0.00003
NM_020937.4(FANCM):c.6127A>C (p.Arg2043=) rs746223444 0.00003
NM_020937.4(FANCM):c.6139G>A (p.Asp2047Asn) rs192079020 0.00003
NM_020937.4(FANCM):c.655G>A (p.Ala219Thr) rs1300272683 0.00003
NM_020937.4(FANCM):c.68C>A (p.Pro23Gln) rs377031191 0.00003
NM_020937.4(FANCM):c.808C>T (p.Arg270Cys) rs751006401 0.00003
NM_020937.4(FANCM):c.950A>G (p.Gln317Arg) rs375644492 0.00003
NM_021922.3(FANCE):c.-132A>G rs886061325 0.00003
NM_021922.3(FANCE):c.1086G>C (p.Val362=) rs146571065 0.00003
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) rs776318917 0.00003
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr) rs759782690 0.00003
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr) rs1365782479 0.00003
NM_021922.3(FANCE):c.1200C>T (p.Ser400=) rs752689765 0.00003
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val) rs776298967 0.00003
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile) rs201970876 0.00003
NM_021922.3(FANCE):c.1509+19T>C rs760565814 0.00003
NM_021922.3(FANCE):c.199C>A (p.Leu67Met) rs1161408735 0.00003
NM_021922.3(FANCE):c.248+5G>A rs1027705914 0.00003
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu) rs371485747 0.00003
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro) rs781123077 0.00003
NM_021922.3(FANCE):c.457G>A (p.Ala153Thr) rs151276683 0.00003
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg) rs747727711 0.00003
NM_022725.3(FANCF):c.-21A>G rs751857151 0.00003
NM_022725.4(FANCF):c.*1884T>C rs760103091 0.00003
NM_022725.4(FANCF):c.*2071A>G rs886048148 0.00003
NM_022725.4(FANCF):c.*597G>A rs373336301 0.00003
NM_022725.4(FANCF):c.*7C>G rs770964562 0.00003
NM_022725.4(FANCF):c.1002G>C (p.Ala334=) rs761698961 0.00003
NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn) rs149687560 0.00003
NM_022725.4(FANCF):c.101C>T (p.Ala34Val) rs780228540 0.00003
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro) rs371420932 0.00003
NM_022725.4(FANCF):c.234G>A (p.Pro78=) rs144503236 0.00003
NM_022725.4(FANCF):c.302G>C (p.Arg101Pro) rs1423734778 0.00003
NM_022725.4(FANCF):c.364C>G (p.Arg122Gly) rs759470099 0.00003
NM_022725.4(FANCF):c.37G>A (p.Glu13Lys) rs766362210 0.00003
NM_022725.4(FANCF):c.67G>T (p.Val23Phe) rs777143902 0.00003
NM_022725.4(FANCF):c.785T>C (p.Leu262Ser) rs368067979 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.1128T>G (p.Ser376Arg) rs587780204 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile) rs767926590 0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 0.00003
NM_024675.4(PALB2):c.1846G>C (p.Asp616His) rs786201907 0.00003
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del) rs587778583 0.00003
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu) rs764509489 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_025215.6(PUS1):c.-246G>A rs886049090 0.00003
NM_025215.6(PUS1):c.-266G>C rs886049089 0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_025215.6(PUS1):c.75-5C>T rs1363622622 0.00003
NM_025215.6(PUS1):c.789C>G (p.Ile263Met) rs755760215 0.00003
NM_030943.4(AMN):c.1179G>A (p.Arg393=) rs1434288624 0.00003
NM_030943.4(AMN):c.448T>C (p.Phe150Leu) rs1039668619 0.00003
NM_030943.4(AMN):c.811C>T (p.Arg271Trp) rs765147150 0.00003
NM_032043.2(BRIP1):c.-307G>A rs936277521 0.00003
NM_032043.3(BRIP1):c.*1393G>T rs754698039 0.00003
NM_032043.3(BRIP1):c.*2668G>A rs886053206 0.00003
NM_032043.3(BRIP1):c.*2691C>G rs886053205 0.00003
NM_032043.3(BRIP1):c.*2999T>C rs1357312726 0.00003
NM_032043.3(BRIP1):c.*3635T>C rs548812634 0.00003
NM_032043.3(BRIP1):c.*3924T>G rs886053195 0.00003
NM_032043.3(BRIP1):c.*900C>A rs886053210 0.00003
NM_032043.3(BRIP1):c.-229C>G rs886053217 0.00003
NM_032043.3(BRIP1):c.1153C>A (p.Leu385Met) rs748001678 0.00003
NM_032043.3(BRIP1):c.1171A>G (p.Ile391Val) rs863224798 0.00003
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=) rs148429663 0.00003
NM_032043.3(BRIP1):c.1314A>G (p.Leu438=) rs1291435424 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val) rs142744352 0.00003
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg) rs746329838 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789 0.00003
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu) rs777217004 0.00003
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His) rs768224857 0.00003
NM_032043.3(BRIP1):c.1794+19T>C rs752328575 0.00003
NM_032043.3(BRIP1):c.1798T>C (p.Phe600Leu) rs745367580 0.00003
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170 0.00003
NM_032043.3(BRIP1):c.2047G>C (p.Val683Leu) rs773347072 0.00003
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=) rs766047812 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_032043.3(BRIP1):c.2492+8G>C rs772953115 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.2567A>G (p.Tyr856Cys) rs781556845 0.00003
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile) rs149529390 0.00003
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr) rs757668121 0.00003
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=) rs555200296 0.00003
NM_032043.3(BRIP1):c.2806G>A (p.Glu936Lys) rs754280048 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.2858C>T (p.Thr953Ile) rs201672040 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_032043.3(BRIP1):c.312T>G (p.Thr104=) rs769190318 0.00003
NM_032043.3(BRIP1):c.347C>G (p.Ser116Cys) rs748793974 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter) rs542698396 0.00003
NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs) rs730881646 0.00003
NM_032043.3(BRIP1):c.379+4_379+5del rs773332695 0.00003
NM_032043.3(BRIP1):c.628-16C>A rs770648312 0.00003
NM_032043.3(BRIP1):c.672A>G (p.Gly224=) rs752356873 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln) rs876660125 0.00003
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly) rs878855158 0.00003
NM_032444.4(SLX4):c.*652A>G rs546917026 0.00003
NM_032444.4(SLX4):c.-399C>T rs1177862096 0.00003
NM_032444.4(SLX4):c.-603+8G>C rs886051987 0.00003
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn) rs149470704 0.00003
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln) rs372956623 0.00003
NM_032444.4(SLX4):c.1159T>G (p.Phe387Val) rs373810042 0.00003
NM_032444.4(SLX4):c.1169G>T (p.Ser390Ile) rs775559576 0.00003
NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln) rs200030312 0.00003
NM_032444.4(SLX4):c.1222C>T (p.Arg408Trp) rs758029323 0.00003
NM_032444.4(SLX4):c.1231C>T (p.Arg411Trp) rs761227900 0.00003
NM_032444.4(SLX4):c.1405C>G (p.Pro469Ala) rs763833617 0.00003
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589 0.00003
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys) rs762550449 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_032444.4(SLX4):c.1573C>T (p.Arg525Cys) rs143831403 0.00003
NM_032444.4(SLX4):c.1749G>T (p.Arg583Ser) rs374644679 0.00003
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr) rs764210911 0.00003
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser) rs144454312 0.00003
NM_032444.4(SLX4):c.1881G>A (p.Pro627=) rs766325727 0.00003
NM_032444.4(SLX4):c.2022C>T (p.Leu674=) rs139900828 0.00003
NM_032444.4(SLX4):c.2065C>T (p.His689Tyr) rs138124860 0.00003
NM_032444.4(SLX4):c.2097C>T (p.Ser699=) rs747941542 0.00003
NM_032444.4(SLX4):c.2124C>T (p.Phe708=) rs564042887 0.00003
NM_032444.4(SLX4):c.2125G>A (p.Val709Met) rs151026877 0.00003
NM_032444.4(SLX4):c.2332G>C (p.Gly778Arg) rs142722925 0.00003
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln) rs143730668 0.00003
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp) rs202237877 0.00003
NM_032444.4(SLX4):c.2787G>A (p.Pro929=) rs766824198 0.00003
NM_032444.4(SLX4):c.2940C>T (p.Ala980=) rs1415684146 0.00003
NM_032444.4(SLX4):c.2990C>T (p.Pro997Leu) rs774243118 0.00003
NM_032444.4(SLX4):c.2998A>G (p.Ile1000Val) rs772540192 0.00003
NM_032444.4(SLX4):c.3042G>A (p.Arg1014=) rs752948857 0.00003
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643 0.00003
NM_032444.4(SLX4):c.3089C>T (p.Pro1030Leu) rs774562724 0.00003
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu) rs200924744 0.00003
NM_032444.4(SLX4):c.3106C>T (p.Leu1036=) rs781572774 0.00003
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser) rs201359490 0.00003
NM_032444.4(SLX4):c.3374A>G (p.Asp1125Gly) rs186784513 0.00003
NM_032444.4(SLX4):c.349G>T (p.Ala117Ser) rs775853263 0.00003
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys) rs201422743 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_032444.4(SLX4):c.4131G>A (p.Ser1377=) rs757513165 0.00003
NM_032444.4(SLX4):c.4185C>T (p.Val1395=) rs993089915 0.00003
NM_032444.4(SLX4):c.4186G>A (p.Gly1396Arg) rs376437029 0.00003
NM_032444.4(SLX4):c.4272C>T (p.Asp1424=) rs771297945 0.00003
NM_032444.4(SLX4):c.4313T>C (p.Ile1438Thr) rs779769996 0.00003
NM_032444.4(SLX4):c.433G>A (p.Ala145Thr) rs780711582 0.00003
NM_032444.4(SLX4):c.4366C>T (p.Arg1456Cys) rs760286353 0.00003
NM_032444.4(SLX4):c.4367G>A (p.Arg1456His) rs774858804 0.00003
NM_032444.4(SLX4):c.4387G>A (p.Asp1463Asn) rs779970904 0.00003
NM_032444.4(SLX4):c.4402C>T (p.Arg1468Cys) rs760497928 0.00003
NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe) rs759045352 0.00003
NM_032444.4(SLX4):c.4478C>T (p.Ser1493Leu) rs565491187 0.00003
NM_032444.4(SLX4):c.4485G>C (p.Ala1495=) rs140872903 0.00003
NM_032444.4(SLX4):c.4508C>T (p.Pro1503Leu) rs370637700 0.00003
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=) rs1320958776 0.00003
NM_032444.4(SLX4):c.4686G>T (p.Pro1562=) rs752013105 0.00003
NM_032444.4(SLX4):c.4751G>A (p.Arg1584His) rs199969428 0.00003
NM_032444.4(SLX4):c.4766G>A (p.Arg1589His) rs746314060 0.00003
NM_032444.4(SLX4):c.485C>T (p.Thr162Met) rs140876043 0.00003
NM_032444.4(SLX4):c.4873C>T (p.His1625Tyr) rs145527531 0.00003
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp) rs886051977 0.00003
NM_032444.4(SLX4):c.5000A>G (p.His1667Arg) rs139304111 0.00003
NM_032444.4(SLX4):c.5228C>T (p.Ser1743Leu) rs144057906 0.00003
NM_032444.4(SLX4):c.5263G>T (p.Ala1755Ser) rs780678810 0.00003
NM_032444.4(SLX4):c.5265G>A (p.Ala1755=) rs527440287 0.00003
NM_032444.4(SLX4):c.5467C>T (p.Arg1823Trp) rs771230395 0.00003
NM_032444.4(SLX4):c.553G>A (p.Asp185Asn) rs201769293 0.00003
NM_032444.4(SLX4):c.708G>A (p.Ala236=) rs765742613 0.00003
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp) rs199912910 0.00003
NM_032444.4(SLX4):c.752C>T (p.Ala251Val) rs201117707 0.00003
NM_032444.4(SLX4):c.806C>T (p.Ala269Val) rs750475726 0.00003
NM_032444.4(SLX4):c.922G>A (p.Val308Met) rs775151113 0.00003
NM_032444.4(SLX4):c.929G>A (p.Arg310Gln) rs759447034 0.00003
NM_032444.4(SLX4):c.97G>T (p.Asp33Tyr) rs780117582 0.00003
NM_033022.4(RPS24):c.122G>A (p.Arg41Gln) rs751857347 0.00003
NM_033022.4(RPS24):c.12C>T (p.Thr4=) rs769340744 0.00003
NM_033022.4(RPS24):c.21C>T (p.Ile7=) rs762233086 0.00003
NM_058216.3(RAD51C):c.1006A>C (p.Thr336Pro) rs772344354 0.00003
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly) rs587782565 0.00003
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253 0.00003
NM_058216.3(RAD51C):c.1118A>C (p.Glu373Ala) rs758223998 0.00003
NM_058216.3(RAD51C):c.121G>C (p.Val41Leu) rs879254131 0.00003
NM_058216.3(RAD51C):c.189T>G (p.Ile63Met) rs730881923 0.00003
NM_058216.3(RAD51C):c.287C>G (p.Thr96Ser) rs750381200 0.00003
NM_058216.3(RAD51C):c.451G>C (p.Val151Leu) rs753912045 0.00003
NM_058216.3(RAD51C):c.705+14T>C rs771168730 0.00003
NM_058216.3(RAD51C):c.706-13C>G rs747406535 0.00003
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met) rs746026526 0.00003
NM_058216.3(RAD51C):c.783A>G (p.Leu261=) rs138643096 0.00003
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg) rs376403182 0.00003
NM_058216.3(RAD51C):c.905-19T>C rs368114768 0.00003
NM_058216.3(RAD51C):c.970G>A (p.Ala324Thr) rs777575172 0.00003
NM_080669.6(SLC46A1):c.1082-1G>A rs80338775 0.00003
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773 0.00003
NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu) rs1337596788 0.00003
NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr) rs782457383 0.00003
NM_138477.4(CDAN1):c.1826A>G (p.Asn609Ser) rs770414676 0.00003
NM_138477.4(CDAN1):c.2263-8C>T rs757508400 0.00003
NM_138477.4(CDAN1):c.2516C>T (p.Pro839Leu) rs772668700 0.00003
NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val) rs80338698 0.00003
NM_138477.4(CDAN1):c.3142G>A (p.Val1048Ile) rs745816995 0.00003
NM_138477.4(CDAN1):c.3261C>G (p.Ser1087=) rs371567068 0.00003
NM_138477.4(CDAN1):c.3384G>A (p.Pro1128=) rs141832648 0.00003
NM_138477.4(CDAN1):c.943+4A>T rs771288663 0.00003
NM_182916.3(TRNT1):c.1079C>T (p.Thr360Ile) rs776480350 0.00003
NM_182916.3(TRNT1):c.463A>G (p.Ile155Val) rs770395497 0.00003
NM_182916.3(TRNT1):c.482-9A>G rs766414708 0.00003
NM_182916.3(TRNT1):c.514G>A (p.Gly172Ser) rs1459323924 0.00003
NM_182916.3(TRNT1):c.780T>C (p.Asp260=) rs150433086 0.00003
NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys) rs766270526 0.00003
NM_198253.3(TERT):c.*104C>T rs886059830 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764 0.00003
NM_206965.2(FTCD):c.172G>A (p.Val58Met) rs749659966 0.00003
NM_206965.2(FTCD):c.250C>T (p.Arg84Cys) rs576603499 0.00003
NM_206965.2(FTCD):c.425G>A (p.Arg142Gln) rs375990689 0.00003
NM_206965.2(FTCD):c.456+13C>T rs377758230 0.00003
NM_206965.2(FTCD):c.49C>A (p.Gln17Lys) rs776696117 0.00003
NM_206965.2(FTCD):c.61G>A (p.Asp21Asn) rs750462888 0.00003
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) rs140217223 0.00003
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) rs758646032 0.00002
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=) rs763266087 0.00002
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) rs754772558 0.00002
NM_000037.4(ANK1):c.*117G>A rs575900279 0.00002
NM_000037.4(ANK1):c.*1884G>A rs1476190517 0.00002
NM_000037.4(ANK1):c.*411C>G rs1361354647 0.00002
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met) rs563833117 0.00002
NM_000037.4(ANK1):c.1563C>T (p.Ala521=) rs762615459 0.00002
NM_000037.4(ANK1):c.1673G>A (p.Arg558Gln) rs577967149 0.00002
NM_000037.4(ANK1):c.1824C>T (p.Ile608=) rs144904116 0.00002
NM_000037.4(ANK1):c.2352C>T (p.Asp784=) rs751238125 0.00002
NM_000037.4(ANK1):c.3532+10G>T rs766646963 0.00002
NM_000037.4(ANK1):c.3601G>A (p.Ala1201Thr) rs139513895 0.00002
NM_000037.4(ANK1):c.4104+12C>T rs768356739 0.00002
NM_000037.4(ANK1):c.4183+4C>T rs745597765 0.00002
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser) rs746486928 0.00002
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=) rs116148295 0.00002
NM_000059.4(BRCA2):c.*545T>C rs536333595 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly) rs80358559 0.00002
NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr) rs765232270 0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe) rs750671399 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe) rs876660249 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000059.4(BRCA2):c.8331+3A>C rs876659382 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000096.4(CP):c.1422T>C (p.Ser474=) rs570042183 0.00002
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.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000096.4(CP):c.199T>C (p.Tyr67His) rs201599525 0.00002
NM_000096.4(CP):c.2005G>C (p.Gly669Arg) rs555339346 0.00002
NM_000096.4(CP):c.2207T>A (p.Ile736Asn) rs746839444 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.236C>T (p.Thr79Ile) rs192728234 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.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000096.4(CP):c.652G>A (p.Val218Met) rs768603982 0.00002
NM_000096.4(CP):c.863T>C (p.Met288Thr) rs747305045 0.00002
NM_000096.4(CP):c.936C>T (p.Asp312=) rs373073229 0.00002
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr) rs752532498 0.00002
NM_000135.4(FANCA):c.1007-3C>T rs557382436 0.00002
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902 0.00002
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu) rs531100141 0.00002
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn) rs764286584 0.00002
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe) rs982286482 0.00002
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val) rs748005916 0.00002
NM_000135.4(FANCA):c.1226-12G>C rs36011345 0.00002
NM_000135.4(FANCA):c.1231G>A (p.Val411Met) rs924067529 0.00002
NM_000135.4(FANCA):c.1236G>A (p.Ala412=) rs371993688 0.00002
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys) rs780135578 0.00002
NM_000135.4(FANCA):c.1243A>G (p.Met415Val) rs1438001164 0.00002
NM_000135.4(FANCA):c.1254A>G (p.Ala418=) rs757442919 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val) rs144234991 0.00002
NM_000135.4(FANCA):c.1359+13C>T rs754740338 0.00002
NM_000135.4(FANCA):c.1471-17C>T rs750970650 0.00002
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val) rs762828757 0.00002
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000135.4(FANCA):c.1557C>T (p.Ala519=) rs765079866 0.00002
NM_000135.4(FANCA):c.1558G>C (p.Asp520His) rs754123446 0.00002
NM_000135.4(FANCA):c.1566+6C>G rs886939126 0.00002
NM_000135.4(FANCA):c.1567-11C>A rs34353618 0.00002
NM_000135.4(FANCA):c.1627-4C>A rs201163548 0.00002
NM_000135.4(FANCA):c.1627-7G>A rs1208978768 0.00002
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) rs753229112 0.00002
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile) rs778754162 0.00002
NM_000135.4(FANCA):c.1716-19C>G rs372263763 0.00002
NM_000135.4(FANCA):c.1717A>G (p.Ile573Val) rs775255736 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.1781C>A (p.Pro594His) rs780295697 0.00002
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu) rs938278864 0.00002
NM_000135.4(FANCA):c.189+4A>G rs374822922 0.00002
NM_000135.4(FANCA):c.1896A>G (p.Pro632=) rs776251919 0.00002
NM_000135.4(FANCA):c.190-20T>C rs755351504 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.1900+16G>A rs757981356 0.00002
NM_000135.4(FANCA):c.1959C>T (p.Leu653=) rs368643963 0.00002
NM_000135.4(FANCA):c.1969C>T (p.Leu657=) rs889618840 0.00002
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312 0.00002
NM_000135.4(FANCA):c.2015-12C>T rs769141220 0.00002
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093 0.00002
NM_000135.4(FANCA):c.2109G>C (p.Gln703His) rs371458363 0.00002
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met) rs775960094 0.00002
NM_000135.4(FANCA):c.2151+20A>G rs374555419 0.00002
NM_000135.4(FANCA):c.2209G>A (p.Ala737Thr) rs539161141 0.00002
NM_000135.4(FANCA):c.2222+8C>T rs745775730 0.00002
NM_000135.4(FANCA):c.228A>G (p.Lys76=) rs372180286 0.00002
NM_000135.4(FANCA):c.2317-10C>G rs757166295 0.00002
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly) rs767455904 0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008 0.00002
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser) rs1359572434 0.00002
NM_000135.4(FANCA):c.2504A>C (p.Lys835Thr) rs749268120 0.00002
NM_000135.4(FANCA):c.2505-5T>G rs768436599 0.00002
NM_000135.4(FANCA):c.2505-7T>C rs374909752 0.00002
NM_000135.4(FANCA):c.2530T>C (p.Ser844Pro) rs1017352035 0.00002
NM_000135.4(FANCA):c.2586A>C (p.Pro862=) rs765499572 0.00002
NM_000135.4(FANCA):c.2610C>T (p.Phe870=) rs201160735 0.00002
NM_000135.4(FANCA):c.2618T>G (p.Phe873Cys) rs756314107 0.00002
NM_000135.4(FANCA):c.2622A>G (p.Arg874=) rs1441752228 0.00002
NM_000135.4(FANCA):c.2667C>T (p.Ala889=) rs771425634 0.00002
NM_000135.4(FANCA):c.2689C>G (p.His897Asp) rs766402927 0.00002
NM_000135.4(FANCA):c.2778+18C>G rs368370420 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.2778+7G>A rs374581674 0.00002
NM_000135.4(FANCA):c.2833G>A (p.Ala945Thr) rs757996952 0.00002
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018 0.00002
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg) rs369565161 0.00002
NM_000135.4(FANCA):c.2967G>A (p.Met989Ile) rs1178389035 0.00002
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883 0.00002
NM_000135.4(FANCA):c.2979A>G (p.Gln993=) rs761577170 0.00002
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser) rs773260958 0.00002
NM_000135.4(FANCA):c.3179C>G (p.Thr1060Arg) rs766358053 0.00002
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171 0.00002
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) rs1419279017 0.00002
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu) rs376089640 0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00002
NM_000135.4(FANCA):c.3348+19C>T rs200217850 0.00002
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro) rs977982480 0.00002
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) rs146062039 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu) rs780078373 0.00002
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly) rs760330357 0.00002
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln) rs770622823 0.00002
NM_000135.4(FANCA):c.3626+10G>C rs753929458 0.00002
NM_000135.4(FANCA):c.3627-17C>T rs754751562 0.00002
NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val) rs576401459 0.00002
NM_000135.4(FANCA):c.3714G>A (p.Arg1238=) rs368437504 0.00002
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met) rs972127356 0.00002
NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro) rs753316789 0.00002
NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala) rs373998809 0.00002
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130 0.00002
NM_000135.4(FANCA):c.3876C>T (p.Leu1292=) rs878934420 0.00002
NM_000135.4(FANCA):c.393C>T (p.Thr131=) rs1217316233 0.00002
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro) rs1219627612 0.00002
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu) rs143570168 0.00002
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00002
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val) rs766710139 0.00002
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala) rs753944130 0.00002
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe) rs752245802 0.00002
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr) rs767206558 0.00002
NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn) rs772122405 0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206 0.00002
NM_000135.4(FANCA):c.427-20A>G rs755584134 0.00002
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00002
NM_000135.4(FANCA):c.4299C>T (p.Ser1433=) rs568293451 0.00002
NM_000135.4(FANCA):c.492T>G (p.Leu164=) rs951810885 0.00002
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.596+14G>A rs757255187 0.00002
NM_000135.4(FANCA):c.596+4G>A rs780355864 0.00002
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn) rs779131886 0.00002
NM_000135.4(FANCA):c.620G>C (p.Gly207Ala) rs1432895332 0.00002
NM_000135.4(FANCA):c.624G>A (p.Ser208=) rs922099383 0.00002
NM_000135.4(FANCA):c.667G>A (p.Ala223Thr) rs771195871 0.00002
NM_000135.4(FANCA):c.6C>G (p.Ser2=) rs982258436 0.00002
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) rs145869646 0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220 0.00002
NM_000135.4(FANCA):c.80-5C>T rs777687671 0.00002
NM_000135.4(FANCA):c.831A>G (p.Ala277=) rs773050347 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108 0.00002
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447 0.00002
NM_000135.4(FANCA):c.88G>A (p.Val30Ile) rs1160471115 0.00002
NM_000135.4(FANCA):c.910G>C (p.Gly304Arg) rs775212719 0.00002
NM_000135.4(FANCA):c.946C>T (p.Leu316=) rs775506986 0.00002
NM_000136.3(FANCC):c.*1379C>G rs55901384 0.00002
NM_000136.3(FANCC):c.*2271G>A rs562841213 0.00002
NM_000136.3(FANCC):c.*577G>A rs1303539766 0.00002
NM_000136.3(FANCC):c.-41A>G rs768624552 0.00002
NM_000136.3(FANCC):c.1002G>A (p.Arg334=) rs772717264 0.00002
NM_000136.3(FANCC):c.1024C>G (p.Pro342Ala) rs863224606 0.00002
NM_000136.3(FANCC):c.1144C>G (p.Gln382Glu) rs778968824 0.00002
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg) rs1064793837 0.00002
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258 0.00002
NM_000136.3(FANCC):c.1248C>T (p.Ala416=) rs747051975 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu) rs587779901 0.00002
NM_000136.3(FANCC):c.165+17A>G rs1046183823 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe) rs758866109 0.00002
NM_000136.3(FANCC):c.233C>A (p.Pro78His) rs138722298 0.00002
NM_000136.3(FANCC):c.349G>A (p.Val117Ile) rs781167993 0.00002
NM_000136.3(FANCC):c.351A>G (p.Val117=) rs754914546 0.00002
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly) rs555753798 0.00002
NM_000136.3(FANCC):c.457-7T>C rs749994612 0.00002
NM_000136.3(FANCC):c.473C>T (p.Ala158Val) rs776429990 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala) rs377620735 0.00002
NM_000136.3(FANCC):c.598G>C (p.Val200Leu) rs772996041 0.00002
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890 0.00002
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln) rs752339229 0.00002
NM_000136.3(FANCC):c.654G>A (p.Glu218=) rs754705988 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.675G>A (p.Glu225=) rs760906091 0.00002
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro) rs1060502515 0.00002
NM_000136.3(FANCC):c.783A>T (p.Leu261=) rs1060504646 0.00002
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly) rs111657009 0.00002
NM_000136.3(FANCC):c.826A>G (p.Ile276Val) rs377085045 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000136.3(FANCC):c.897-19C>T rs368830981 0.00002
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690 0.00002
NM_000136.3(FANCC):c.975T>G (p.Ala325=) rs747463354 0.00002
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850 0.00002
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg) rs267606851 0.00002
NM_000186.4(CFH):c.122C>T (p.Thr41Ile) rs1192717326 0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000186.4(CFH):c.16A>G (p.Lys6Glu) rs749875053 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser) rs755928805 0.00002
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) rs772553879 0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met) rs752302466 0.00002
NM_000186.4(CFH):c.2427A>G (p.Gln809=) rs758809077 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile) rs186711438 0.00002
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000186.4(CFH):c.3156C>T (p.Pro1052=) rs764539113 0.00002
NM_000186.4(CFH):c.33G>T (p.Met11Ile) rs779670935 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser) rs1286773616 0.00002
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys) rs138876566 0.00002
NM_000254.3(MTR):c.1395G>A (p.Gly465=) rs372015549 0.00002
NM_000254.3(MTR):c.1434G>A (p.Glu478=) rs747176647 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu) rs1479249107 0.00002
NM_000254.3(MTR):c.179C>G (p.Ala60Gly) rs775827591 0.00002
NM_000254.3(MTR):c.1953+7A>G rs777871271 0.00002
NM_000254.3(MTR):c.2109A>G (p.Arg703=) rs565935347 0.00002
NM_000254.3(MTR):c.259C>T (p.Leu87=) rs751808381 0.00002
NM_000254.3(MTR):c.2772C>G (p.Leu924=) rs533541925 0.00002
NM_000254.3(MTR):c.2775+17G>T rs763995449 0.00002
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) rs774910076 0.00002
NM_000254.3(MTR):c.2852-3T>C rs986257997 0.00002
NM_000254.3(MTR):c.2910G>A (p.Val970=) rs769690083 0.00002
NM_000254.3(MTR):c.339+19C>T rs199843808 0.00002
NM_000254.3(MTR):c.3598+15G>A rs754129736 0.00002
NM_000254.3(MTR):c.388G>A (p.Glu130Lys) rs755894287 0.00002
NM_000254.3(MTR):c.486G>A (p.Pro162=) rs747494979 0.00002
NM_000254.3(MTR):c.711C>T (p.Ser237=) rs775774568 0.00002
NM_000254.3(MTR):c.821T>C (p.Ile274Thr) rs368380397 0.00002
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg) rs375592512 0.00002
NM_000289.6(PFKM):c.1128-4A>G rs570665595 0.00002
NM_000289.6(PFKM):c.1191+6G>T rs779486374 0.00002
NM_000289.6(PFKM):c.1200G>A (p.Ser400=) rs746775189 0.00002
NM_000289.6(PFKM):c.1308C>G (p.Val436=) rs779395140 0.00002
NM_000289.6(PFKM):c.140G>A (p.Arg47His) rs748718049 0.00002
NM_000289.6(PFKM):c.1464T>C (p.Phe488=) rs374814413 0.00002
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) rs753681797 0.00002
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194 0.00002
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys) rs763839998 0.00002
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011 0.00002
NM_000289.6(PFKM):c.2097G>C (p.Arg699=) rs776783895 0.00002
NM_000289.6(PFKM):c.2176C>T (p.Leu726=) rs761487239 0.00002
NM_000289.6(PFKM):c.2337C>T (p.Ala779=) rs748647298 0.00002
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp) rs757746489 0.00002
NM_000289.6(PFKM):c.471C>T (p.Asn157=) rs1223915629 0.00002
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala) rs139800248 0.00002
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr) rs576835893 0.00002
NM_000289.6(PFKM):c.834C>T (p.Asp278=) rs776432077 0.00002
NM_000289.6(PFKM):c.912G>A (p.Thr304=) rs764516934 0.00002
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000298.6(PKLR):c.909G>C (p.Pro303=) rs200840994 0.00002
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000342.4(SLC4A1):c.*1766C>T rs896817763 0.00002
NM_000342.4(SLC4A1):c.*351G>T rs138242019 0.00002
NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr) rs368353943 0.00002
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) rs13306787 0.00002
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748 0.00002
NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val) rs748087778 0.00002
NM_000342.4(SLC4A1):c.2547G>A (p.Val849=) rs753357599 0.00002
NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln) rs750879183 0.00002
NM_000342.4(SLC4A1):c.486-10C>T rs376999476 0.00002
NM_000342.4(SLC4A1):c.672A>G (p.Ser224=) rs772317162 0.00002
NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys) rs779054292 0.00002
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val) rs746406399 0.00002
NM_000355.4(TCN2):c.1022C>T (p.Pro341Leu) rs1017195499 0.00002
NM_000355.4(TCN2):c.1039A>T (p.Ile347Phe) rs761778896 0.00002
NM_000355.4(TCN2):c.10C>T (p.Leu4Phe) rs572942248 0.00002
NM_000355.4(TCN2):c.1139A>C (p.Tyr380Ser) rs746024609 0.00002
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn) rs773473997 0.00002
NM_000355.4(TCN2):c.175C>T (p.Arg59Cys) rs757905563 0.00002
NM_000355.4(TCN2):c.258-10C>T rs757142216 0.00002
NM_000355.4(TCN2):c.271G>A (p.Glu91Lys) rs559879608 0.00002
NM_000355.4(TCN2):c.368A>G (p.Lys123Arg) rs368757546 0.00002
NM_000355.4(TCN2):c.390G>A (p.Gln130=) rs565849474 0.00002
NM_000355.4(TCN2):c.568C>T (p.His190Tyr) rs757378346 0.00002
NM_000355.4(TCN2):c.65-8T>C rs773798398 0.00002
NM_000355.4(TCN2):c.652C>T (p.Arg218Trp) rs754057087 0.00002
NM_000355.4(TCN2):c.753+5G>A rs749028271 0.00002
NM_000355.4(TCN2):c.753+8A>G rs778117023 0.00002
NM_000355.4(TCN2):c.846C>T (p.Ala282=) rs745306636 0.00002
NM_000355.4(TCN2):c.859C>T (p.Leu287Phe) rs369458782 0.00002
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr) rs754330583 0.00002
NM_000355.4(TCN2):c.944T>C (p.Met315Thr) rs764172898 0.00002
NM_000355.4(TCN2):c.999G>A (p.Thr333=) rs747578310 0.00002
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 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_000375.3(UROS):c.*24A>G rs760003189 0.00002
NM_000375.3(UROS):c.-134C>A rs985442867 0.00002
NM_000375.3(UROS):c.691G>A (p.Ala231Thr) rs780837512 0.00002
NM_000398.7(CYB5R3):c.173G>A (p.Arg58Gln) rs121965007 0.00002
NM_000398.7(CYB5R3):c.218T>C (p.Leu73Pro) rs121965013 0.00002
NM_000398.7(CYB5R3):c.352C>T (p.His118Tyr) rs772310694 0.00002
NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr) rs121965015 0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) rs121965016 0.00002
NM_000402.4(G6PD):c.298T>C (p.Tyr100His) rs137852349 0.00002
NM_000402.4(G6PD):c.944G>A (p.Arg315His) rs74575103 0.00002
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489 0.00002
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) rs63750336 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.223G>A (p.Gly75Ser) rs33916541 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.316-150C>G rs193922556 0.00002
NM_000518.5(HBB):c.41C>T (p.Ala14Val) rs35203747 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000518.5(HBB):c.93-40C>T rs556727592 0.00002
NM_000519.4(HBD):c.*96G>T rs1042760103 0.00002
NM_000559.2(HBG1):c.-53-196C>T rs35983258 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_000969.5(RPL5):c.103C>T (p.Arg35Cys) rs772575122 0.00002
NM_000969.5(RPL5):c.156A>C (p.Ile52=) rs753968704 0.00002
NM_000969.5(RPL5):c.324+12A>T rs781444582 0.00002
NM_000969.5(RPL5):c.519C>T (p.Ile173=) rs755317830 0.00002
NM_000969.5(RPL5):c.690C>T (p.Ser230=) rs766117227 0.00002
NM_000969.5(RPL5):c.794+8G>A rs907325546 0.00002
NM_000975.5(RPL11):c.-14T>C rs886046307 0.00002
NM_000975.5(RPL11):c.258T>G (p.Gly86=) rs760885169 0.00002
NM_000975.5(RPL11):c.33C>T (p.Pro11=) rs764637448 0.00002
NM_000975.5(RPL11):c.452T>C (p.Ile151Thr) rs754966145 0.00002
NM_000975.5(RPL11):c.507+8T>C rs757566843 0.00002
NM_000987.5(RPL26):c.153G>A (p.Lys51=) rs759269888 0.00002
NM_000996.4(RPL35A):c.164+18G>A rs749642279 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_001011.4(RPS7):c.264T>C (p.Ser88=) rs1244488439 0.00002
NM_001011.4(RPS7):c.35A>G (p.Asn12Ser) rs779623517 0.00002
NM_001011.4(RPS7):c.99C>T (p.Asn33=) rs61732234 0.00002
NM_001014.5(RPS10):c.*25G>T rs886061321 0.00002
NM_001014.5(RPS10):c.135C>T (p.Val45=) rs148901210 0.00002
NM_001014.5(RPS10):c.171C>T (p.Tyr57=) rs751801707 0.00002
NM_001018113.3(FANCB):c.1042T>C (p.Ser348Pro) rs1425904046 0.00002
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) rs138192474 0.00002
NM_001018113.3(FANCB):c.1159C>T (p.Arg387Cys) rs145542355 0.00002
NM_001018113.3(FANCB):c.1251A>C (p.Lys417Asn) rs1296333300 0.00002
NM_001018113.3(FANCB):c.1327-11_1327-10insC rs1312589379 0.00002
NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val) rs368679125 0.00002
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) rs764817410 0.00002
NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr) rs763091316 0.00002
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) rs943801800 0.00002
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761 0.00002
NM_001018113.3(FANCB):c.2301A>C (p.Leu767=) rs962222970 0.00002
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_001018113.3(FANCB):c.2517T>C (p.Thr839=) rs760440816 0.00002
NM_001018113.3(FANCB):c.2553T>C (p.Phe851=) rs759020755 0.00002
NM_001018113.3(FANCB):c.2554G>A (p.Ala852Thr) rs770685871 0.00002
NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn) rs749099779 0.00002
NM_001018113.3(FANCB):c.552G>A (p.Leu184=) rs771998496 0.00002
NM_001018113.3(FANCB):c.653A>C (p.Glu218Ala) rs781051710 0.00002
NM_001018113.3(FANCB):c.679T>C (p.Tyr227His) rs1398803909 0.00002
NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser) rs200970121 0.00002
NM_001018113.3(FANCB):c.741C>A (p.Ile247=) rs760773732 0.00002
NM_001018115.3(FANCD2):c.1014C>T (p.Ser338=) rs527769128 0.00002
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val) rs993692917 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.1317T>A (p.Ala439=) rs368441247 0.00002
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val) rs768105189 0.00002
NM_001018115.3(FANCD2):c.1766+3A>G rs758140679 0.00002
NM_001018115.3(FANCD2):c.1788C>A (p.Thr596=) rs779249492 0.00002
NM_001018115.3(FANCD2):c.245C>T (p.Thr82Ile) rs1221930544 0.00002
NM_001018115.3(FANCD2):c.2586C>T (p.Ile862=) rs367838566 0.00002
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) rs766286504 0.00002
NM_001018115.3(FANCD2):c.2986A>G (p.Ser996Gly) rs745373058 0.00002
NM_001018115.3(FANCD2):c.3106T>A (p.Cys1036Ser) rs767901156 0.00002
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val) rs774299094 0.00002
NM_001018115.3(FANCD2):c.3127G>A (p.Gly1043Ser) rs142238966 0.00002
NM_001018115.3(FANCD2):c.3149T>A (p.Val1050Glu) rs751027444 0.00002
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly) rs1371349116 0.00002
NM_001018115.3(FANCD2):c.3389G>A (p.Cys1130Tyr) rs750409411 0.00002
NM_001018115.3(FANCD2):c.3406A>G (p.Arg1136Gly) rs369405673 0.00002
NM_001018115.3(FANCD2):c.3421A>G (p.Ile1141Val) rs752815037 0.00002
NM_001018115.3(FANCD2):c.3493C>T (p.Arg1165Trp) rs759348779 0.00002
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu) rs760823688 0.00002
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys) rs200335298 0.00002
NM_001018115.3(FANCD2):c.3683+19C>T rs377723227 0.00002
NM_001018115.3(FANCD2):c.3684-9G>A rs748312392 0.00002
NM_001018115.3(FANCD2):c.3692T>C (p.Phe1231Ser) rs762915519 0.00002
NM_001018115.3(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864 0.00002
NM_001018115.3(FANCD2):c.377+17T>C rs45593431 0.00002
NM_001018115.3(FANCD2):c.3778-15A>G rs755821273 0.00002
NM_001018115.3(FANCD2):c.3808A>G (p.Met1270Val) rs587778333 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser) rs781605384 0.00002
NM_001018115.3(FANCD2):c.3871C>T (p.Leu1291=) rs771698231 0.00002
NM_001018115.3(FANCD2):c.3895C>T (p.Arg1299Cys) rs555348798 0.00002
NM_001018115.3(FANCD2):c.3959A>G (p.His1320Arg) rs746501818 0.00002
NM_001018115.3(FANCD2):c.3964-10T>C rs2302844 0.00002
NM_001018115.3(FANCD2):c.4053G>A (p.Thr1351=) rs760800033 0.00002
NM_001018115.3(FANCD2):c.4175G>A (p.Arg1392Gln) rs1334082637 0.00002
NM_001018115.3(FANCD2):c.4209T>C (p.Asn1403=) rs758210208 0.00002
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=) rs373600764 0.00002
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr) rs751126921 0.00002
NM_001018115.3(FANCD2):c.903T>A (p.Leu301=) rs752360517 0.00002
NM_001022.4(RPS19):c.1-9C>A rs376460080 0.00002
NM_001022.4(RPS19):c.87A>G (p.Lys29=) rs11540256 0.00002
NM_001029.5(RPS26):c.207G>C (p.Val69=) rs776240183 0.00002
NM_001040436.2(YARS2):c.-72C>G rs552674058 0.00002
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) rs587777214 0.00002
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) rs541554381 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.10136T>C (p.Val3379Ala) rs1239695630 0.00002
NM_001081.4(CUBN):c.10187A>G (p.Asn3396Ser) rs780850360 0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln) rs780837561 0.00002
NM_001081.4(CUBN):c.1765+9G>A rs780944597 0.00002
NM_001081.4(CUBN):c.3088C>A (p.Leu1030Ile) rs746111876 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.3546G>A (p.Pro1182=) rs369417721 0.00002
NM_001081.4(CUBN):c.4034G>A (p.Arg1345Gln) rs377486978 0.00002
NM_001081.4(CUBN):c.4206C>T (p.Phe1402=) rs563089365 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.5758G>A (p.Ala1920Thr) rs770772474 0.00002
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=) rs199868206 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.6005A>G (p.Asn2002Ser) rs368261414 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.7218C>A (p.Ile2406=) rs369069102 0.00002
NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter) rs557208468 0.00002
NM_001081.4(CUBN):c.7534-5A>G rs769047632 0.00002
NM_001081.4(CUBN):c.8017G>A (p.Glu2673Lys) rs781304382 0.00002
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) rs558369938 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.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr) rs544783535 0.00002
NM_001081.4(CUBN):c.9385C>T (p.Leu3129Phe) rs762293500 0.00002
NM_001081.4(CUBN):c.9454G>A (p.Gly3152Arg) rs772196844 0.00002
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00002
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442 0.00002
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys) rs758110629 0.00002
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr) rs104894182 0.00002
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His) rs148237800 0.00002
NM_001113378.2(FANCI):c.1092C>T (p.Ile364=) rs147055918 0.00002
NM_001113378.2(FANCI):c.1112+8G>C rs761741904 0.00002
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=) rs201871288 0.00002
NM_001113378.2(FANCI):c.1513-16A>C rs768296894 0.00002
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser) rs774909787 0.00002
NM_001113378.2(FANCI):c.1699-20T>C rs770951736 0.00002
NM_001113378.2(FANCI):c.1716C>T (p.His572=) rs750999079 0.00002
NM_001113378.2(FANCI):c.1741G>A (p.Glu581Lys) rs768875486 0.00002
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly) rs1262508273 0.00002
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser) rs369268726 0.00002
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile) rs200007022 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.1822-7C>G rs758739224 0.00002
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys) rs749295501 0.00002
NM_001113378.2(FANCI):c.1890+10A>G rs201954421 0.00002
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=) rs750462548 0.00002
NM_001113378.2(FANCI):c.197G>A (p.Arg66His) rs779515039 0.00002
NM_001113378.2(FANCI):c.2026G>T (p.Ala676Ser) rs756986642 0.00002
NM_001113378.2(FANCI):c.2096A>C (p.Tyr699Ser) rs774148630 0.00002
NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile) rs201796281 0.00002
NM_001113378.2(FANCI):c.2170-3T>C rs757908899 0.00002
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) rs752028405 0.00002
NM_001113378.2(FANCI):c.2336A>G (p.Lys779Arg) rs1323965441 0.00002
NM_001113378.2(FANCI):c.2454C>T (p.Phe818=) rs747796401 0.00002
NM_001113378.2(FANCI):c.2636+20T>C rs767625078 0.00002
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824 0.00002
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp) rs562503186 0.00002
NM_001113378.2(FANCI):c.3016A>G (p.Met1006Val) rs781108611 0.00002
NM_001113378.2(FANCI):c.3124C>G (p.Pro1042Ala) rs752438879 0.00002
NM_001113378.2(FANCI):c.3162C>T (p.His1054=) rs746204528 0.00002
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val) rs142756279 0.00002
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met) rs922792253 0.00002
NM_001113378.2(FANCI):c.3549G>A (p.Val1183=) rs774699547 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001113378.2(FANCI):c.3816+6C>T rs989969696 0.00002
NM_001113378.2(FANCI):c.3925-4C>T rs765962856 0.00002
NM_001113378.2(FANCI):c.503+11T>C rs749071182 0.00002
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys) rs751222800 0.00002
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe) rs1435589915 0.00002
NM_001113378.2(FANCI):c.755+9T>C rs369467223 0.00002
NM_001113378.2(FANCI):c.875A>G (p.His292Arg) rs764641724 0.00002
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) rs769485443 0.00002
NM_001113378.2(FANCI):c.975+7T>C rs766659063 0.00002
NM_001113378.2(FANCI):c.976-5T>C rs775680372 0.00002
NM_001113525.2(ZNF276):c.*480G>C rs781731674 0.00002
NM_001113525.2(ZNF276):c.*732G>T rs775180524 0.00002
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_001114134.2(EPB42):c.346C>T (p.His116Tyr) rs886051169 0.00002
NM_001114134.2(EPB42):c.637C>T (p.Arg213Cys) rs115660852 0.00002
NM_001114636.1(FANCL):c.-13C>T rs757714548 0.00002
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu) rs570385246 0.00002
NM_001243177.4(ALDOA):c.498C>T (p.Gly166=) rs145811469 0.00002
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=) rs769378422 0.00002
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=) rs758499704 0.00002
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn) rs1455309434 0.00002
NM_001271696.3(ABCB7):c.1935+5G>C rs763223675 0.00002
NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys) rs768744226 0.00002
NM_001360016.2(G6PD):c.1017C>T (p.Ala339=) rs1440647556 0.00002
NM_001360016.2(G6PD):c.1113G>A (p.Leu371=) rs1166552162 0.00002
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=) rs782623392 0.00002
NM_001360016.2(G6PD):c.1287+19G>A rs781980305 0.00002
NM_001360016.2(G6PD):c.1338C>T (p.Cys446=) rs1557229582 0.00002
NM_001360016.2(G6PD):c.1368C>T (p.Asp456=) rs782170250 0.00002
NM_001360016.2(G6PD):c.1437C>T (p.Pro479=) rs781829860 0.00002
NM_001360016.2(G6PD):c.1443C>T (p.Pro481=) rs377659103 0.00002
NM_001360016.2(G6PD):c.1452T>C (p.Tyr484=) rs782797399 0.00002
NM_001360016.2(G6PD):c.1457+19C>T rs1557229460 0.00002
NM_001360016.2(G6PD):c.1470G>A (p.Thr490=) rs782206043 0.00002
NM_001360016.2(G6PD):c.186C>T (p.Pro62=) rs781875587 0.00002
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys) rs782090947 0.00002
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys) rs781848254 0.00002
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu) rs781794862 0.00002
NM_001360016.2(G6PD):c.336C>T (p.Tyr112=) rs1307320948 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001360016.2(G6PD):c.441C>T (p.Tyr147=) rs375189502 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_001360016.2(G6PD):c.564C>T (p.Ser188=) rs200626353 0.00002
NM_001360016.2(G6PD):c.597C>T (p.Ile199=) rs369516039 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 0.00002
NM_001360016.2(G6PD):c.708C>T (p.Thr236=) rs782118135 0.00002
NM_001360016.2(G6PD):c.750C>T (p.Phe250=) rs140496395 0.00002
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys) rs782216807 0.00002
NM_001360016.2(G6PD):c.771-11T>C rs782622284 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_001374504.1(TMPRSS6):c.*140C>T rs886057491 0.00002
NM_001374504.1(TMPRSS6):c.*24G>A rs182366825 0.00002
NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=) rs546574834 0.00002
NM_001374504.1(TMPRSS6):c.1537G>A (p.Glu513Lys) rs387907018 0.00002
NM_001374504.1(TMPRSS6):c.1762C>T (p.Arg588Trp) rs773272073 0.00002
NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His) rs371794539 0.00002
NM_001374504.1(TMPRSS6):c.2250+7C>A rs763966214 0.00002
NM_001374504.1(TMPRSS6):c.656G>A (p.Gly219Asp) rs754848810 0.00002
NM_001386140.1(MTTP):c.*38G>A rs561157874 0.00002
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu) rs756155398 0.00002
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu) rs751715076 0.00002
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp) rs1419028802 0.00002
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe) rs146548751 0.00002
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg) rs759706918 0.00002
NM_002049.4(GATA1):c.1041G>A (p.Gly347=) rs1412419664 0.00002
NM_002049.4(GATA1):c.1170C>G (p.Pro390=) rs782167312 0.00002
NM_002049.4(GATA1):c.1176C>G (p.Gly392=) rs782094568 0.00002
NM_002049.4(GATA1):c.1208C>T (p.Thr403Ile) rs782599587 0.00002
NM_002049.4(GATA1):c.220+12G>A rs2062674583 0.00002
NM_002049.4(GATA1):c.302C>T (p.Thr101Met) rs200599207 0.00002
NM_002049.4(GATA1):c.360C>T (p.Ala120=) rs782008052 0.00002
NM_002049.4(GATA1):c.419G>A (p.Arg140Gln) rs997764249 0.00002
NM_002049.4(GATA1):c.482G>C (p.Ser161Thr) rs782651118 0.00002
NM_002049.4(GATA1):c.534C>A (p.Ser178Arg) rs782193818 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_002049.4(GATA1):c.740G>A (p.Arg247His) rs782534643 0.00002
NM_002049.4(GATA1):c.821G>A (p.Ser274Asn) rs374457234 0.00002
NM_002049.4(GATA1):c.822T>C (p.Ser274=) rs781852329 0.00002
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn) rs781409951 0.00002
NM_002454.3(MTRR):c.1057+9C>T rs752920631 0.00002
NM_002454.3(MTRR):c.1146+12T>C rs775452380 0.00002
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly) rs1239051004 0.00002
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter) rs777997657 0.00002
NM_002454.3(MTRR):c.129+20A>T rs758051759 0.00002
NM_002454.3(MTRR):c.1317T>C (p.Ser439=) rs756279354 0.00002
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala) rs777447397 0.00002
NM_002454.3(MTRR):c.1563C>T (p.Ser521=) rs757184514 0.00002
NM_002454.3(MTRR):c.1575A>C (p.Arg525=) rs369430052 0.00002
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr) rs767321681 0.00002
NM_002454.3(MTRR):c.1641C>T (p.Thr547=) rs1044675786 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.1769+14C>T rs760216011 0.00002
NM_002454.3(MTRR):c.1773A>G (p.Lys591=) rs760394620 0.00002
NM_002454.3(MTRR):c.1959A>G (p.Ala653=) rs763202690 0.00002
NM_002454.3(MTRR):c.280C>T (p.Leu94=) rs1383637211 0.00002
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser) rs763568058 0.00002
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe) rs754157293 0.00002
NM_002454.3(MTRR):c.459T>C (p.His153=) rs1485372093 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873 0.00002
NM_002485.5(NBN):c.1871G>A (p.Arg624His) rs587782297 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln) rs753270166 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_002641.4(PIGA):c.849-19C>T rs780237513 0.00002
NM_003126.4(SPTA1):c.1981C>T (p.Arg661Cys) rs747716571 0.00002
NM_003126.4(SPTA1):c.5566-10A>G rs140863916 0.00002
NM_003126.4(SPTA1):c.6788+11C>T rs779537034 0.00002
NM_003126.4(SPTA1):c.6843-8T>C rs766464890 0.00002
NM_004629.2(FANCG):c.*141A>G rs1323568562 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1144-1G>T rs755363896 0.00002
NM_004629.2(FANCG):c.1155C>T (p.Pro385=) rs1217203217 0.00002
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter) rs776122485 0.00002
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg) rs759285011 0.00002
NM_004629.2(FANCG):c.1335G>A (p.Leu445=) rs780612204 0.00002
NM_004629.2(FANCG):c.1346C>T (p.Pro449Leu) rs757442131 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004629.2(FANCG):c.1581C>T (p.Ser527=) rs768671803 0.00002
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter) rs779834525 0.00002
NM_004629.2(FANCG):c.1677G>A (p.Lys559=) rs779403243 0.00002
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala) rs750212705 0.00002
NM_004629.2(FANCG):c.176-10G>A rs376273679 0.00002
NM_004629.2(FANCG):c.308-8C>T rs776375811 0.00002
NM_004629.2(FANCG):c.458C>G (p.Ala153Gly) rs200074432 0.00002
NM_004629.2(FANCG):c.583T>C (p.Leu195=) rs370461759 0.00002
NM_004629.2(FANCG):c.635C>T (p.Ala212Val) rs375754266 0.00002
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn) rs745833004 0.00002
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys) rs771010169 0.00002
NM_005050.4(ABCD4):c.1401C>T (p.Asp467=) rs757799492 0.00002
NM_005050.4(ABCD4):c.1559+20G>A rs572419384 0.00002
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=) rs141766346 0.00002
NM_005050.4(ABCD4):c.1818A>G (p.Glu606=) rs761917106 0.00002
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val) rs763842574 0.00002
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln) rs368694663 0.00002
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile) rs764251926 0.00002
NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser) rs767310648 0.00002
NM_005142.3(CBLIF):c.1230C>T (p.Ile410=) rs150857406 0.00002
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln) rs753728949 0.00002
NM_005236.3(ERCC4):c.105C>T (p.Cys35=) rs762885804 0.00002
NM_005236.3(ERCC4):c.1214-19T>C rs747124669 0.00002
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met) rs761301503 0.00002
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr) rs779538282 0.00002
NM_005236.3(ERCC4):c.1452C>A (p.Thr484=) rs1420641422 0.00002
NM_005236.3(ERCC4):c.1620G>A (p.Ser540=) rs769817145 0.00002
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala) rs773850619 0.00002
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00002
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met) rs201501958 0.00002
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=) rs373510515 0.00002
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=) rs200069811 0.00002
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.2604C>T (p.His868=) rs370809250 0.00002
NM_005236.3(ERCC4):c.2607C>T (p.His869=) rs769736716 0.00002
NM_005236.3(ERCC4):c.472C>T (p.Arg158Cys) rs746296279 0.00002
NM_005236.3(ERCC4):c.540A>G (p.Arg180=) rs765599689 0.00002
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) rs368218302 0.00002
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln) rs202243691 0.00002
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) rs398124206 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=) rs782472950 0.00002
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=) rs782517377 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952 0.00002
NM_005334.3(HCFC1):c.2856+15G>A rs1286532435 0.00002
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=) rs1436495630 0.00002
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=) rs1557114580 0.00002
NM_005334.3(HCFC1):c.3249C>T (p.His1083=) rs782014460 0.00002
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) rs782332238 0.00002
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly) rs868914963 0.00002
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His) rs782325660 0.00002
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser) rs782399563 0.00002
NM_005334.3(HCFC1):c.3975C>T (p.His1325=) rs373289538 0.00002
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) rs782707963 0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046 0.00002
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) rs781961897 0.00002
NM_005334.3(HCFC1):c.4497+4A>G rs782206577 0.00002
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu) rs782560491 0.00002
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935 0.00002
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) rs1002620023 0.00002
NM_005334.3(HCFC1):c.504-5G>A rs1362015008 0.00002
NM_005334.3(HCFC1):c.5261-17A>G rs782143370 0.00002
NM_005334.3(HCFC1):c.5517+16T>A rs782354980 0.00002
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) rs782063013 0.00002
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=) rs781929046 0.00002
NM_005334.3(HCFC1):c.748G>A (p.Val250Met) rs782385961 0.00002
NM_005373.3(MPL):c.1805T>C (p.Met602Thr) rs770770219 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) rs149099078 0.00002
NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln) rs762828701 0.00002
NM_006363.6(SEC23B):c.1512-10G>T rs770601333 0.00002
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter) rs201921350 0.00002
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter) rs199939108 0.00002
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys) rs752037101 0.00002
NM_006363.6(SEC23B):c.2009G>A (p.Arg670His) rs757662443 0.00002
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met) rs752664090 0.00002
NM_006363.6(SEC23B):c.2143A>G (p.Ser715Gly) rs777442287 0.00002
NM_006363.6(SEC23B):c.328T>C (p.Leu110=) rs368413002 0.00002
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln) rs892715050 0.00002
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser) rs796053245 0.00002
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=) rs145962512 0.00002
NM_006516.4(SLC2A1):c.1278+9C>G rs550156548 0.00002
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu) rs754791604 0.00002
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro) rs748340730 0.00002
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser) rs765479065 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006516.4(SLC2A1):c.495C>T (p.Val165=) rs181115612 0.00002
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) rs397514564 0.00002
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=) rs566497194 0.00002
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) rs766376173 0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) rs201996220 0.00002
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=) rs776461617 0.00002
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile) rs920394412 0.00002
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met) rs749426767 0.00002
NM_006947.4(SRP72):c.*1478C>A rs1405583789 0.00002
NM_006947.4(SRP72):c.1225-6G>A rs752594366 0.00002
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys) rs1185247120 0.00002
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) rs752104654 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_007294.4(BRCA1):c.1723G>A (p.Glu575Lys) rs397508902 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_015077.4(SARM1):c.*2072C>T rs139970165 0.00002
NM_015077.4(SARM1):c.2014A>G (p.Met672Val) rs782774927 0.00002
NM_015506.2(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.3(MMACHC):c.105G>A (p.Leu35=) rs1415635839 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015506.3(MMACHC):c.354G>A (p.Gln118=) rs765769901 0.00002
NM_015506.3(MMACHC):c.414C>T (p.Asp138=) rs775173474 0.00002
NM_015506.3(MMACHC):c.429+14T>G rs371226986 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu) rs371004372 0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.765C>T (p.Pro255=) rs772078967 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015506.3(MMACHC):c.810C>T (p.Leu270=) rs778330842 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys) rs777544556 0.00002
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) rs760971849 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter) rs1431992617 0.00002
NM_015702.3(MMADHC):c.537A>G (p.Thr179=) rs377571291 0.00002
NM_015702.3(MMADHC):c.615C>T (p.Ile205=) rs986210972 0.00002
NM_015702.3(MMADHC):c.697-3C>T rs770272562 0.00002
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861 0.00002
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro) rs118204044 0.00002
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109 0.00002
NM_016038.4(SBDS):c.173T>C (p.Val58Ala) rs747222022 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_016222.4(DDX41):c.253G>T (p.Val85Phe) rs773991873 0.00002
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753 0.00002
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) rs763845960 0.00002
NM_018062.4(FANCL):c.1024C>G (p.Leu342Val) rs140758986 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_018062.4(FANCL):c.375-14C>G rs1361463338 0.00002
NM_018062.4(FANCL):c.428C>T (p.Ala143Val) rs756000370 0.00002
NM_018062.4(FANCL):c.500T>C (p.Val167Ala) rs1338440311 0.00002
NM_018062.4(FANCL):c.641T>C (p.Leu214Pro) rs766618785 0.00002
NM_018062.4(FANCL):c.677G>A (p.Arg226His) rs745526326 0.00002
NM_018062.4(FANCL):c.775+13A>C rs764413990 0.00002
NM_018062.4(FANCL):c.810C>A (p.Asn270Lys) rs750050199 0.00002
NM_018062.4(FANCL):c.969G>A (p.Val323=) rs200819615 0.00002
NM_018368.4(LMBRD1):c.1188+7A>T rs375681915 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr) rs1340799992 0.00002
NM_018368.4(LMBRD1):c.1418-16T>C rs753105951 0.00002
NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=) rs944285630 0.00002
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val) rs775365046 0.00002
NM_018368.4(LMBRD1):c.39C>T (p.Ile13=) rs368494826 0.00002
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser) rs376076271 0.00002
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867 0.00002
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln) rs747354714 0.00002
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00002
NM_020937.4(FANCM):c.1009G>C (p.Ala337Pro) rs1210888568 0.00002
NM_020937.4(FANCM):c.1043A>G (p.Asn348Ser) rs369752557 0.00002
NM_020937.4(FANCM):c.1046T>C (p.Ile349Thr) rs150185654 0.00002
NM_020937.4(FANCM):c.1131G>A (p.Met377Ile) rs760935075 0.00002
NM_020937.4(FANCM):c.1255A>G (p.Met419Val) rs552281088 0.00002
NM_020937.4(FANCM):c.1270C>T (p.Arg424Cys) rs537833024 0.00002
NM_020937.4(FANCM):c.1420C>T (p.Arg474Cys) rs999205481 0.00002
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter) rs1011870043 0.00002
NM_020937.4(FANCM):c.1490C>T (p.Ser497Leu) rs1226481393 0.00002
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg) rs371569048 0.00002
NM_020937.4(FANCM):c.1702A>G (p.Ile568Val) rs558763945 0.00002
NM_020937.4(FANCM):c.1822A>G (p.Ile608Val) rs761833981 0.00002
NM_020937.4(FANCM):c.184T>C (p.Tyr62His) rs746609446 0.00002
NM_020937.4(FANCM):c.1892A>G (p.Asp631Gly) rs753713103 0.00002
NM_020937.4(FANCM):c.1915A>G (p.Lys639Glu) rs745669373 0.00002
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln) rs763495035 0.00002
NM_020937.4(FANCM):c.2085G>C (p.Arg695Ser) rs368303133 0.00002
NM_020937.4(FANCM):c.2161-9A>T rs752101829 0.00002
NM_020937.4(FANCM):c.2306G>A (p.Arg769Lys) rs548624235 0.00002
NM_020937.4(FANCM):c.242C>T (p.Ala81Val) rs538464580 0.00002
NM_020937.4(FANCM):c.2543C>G (p.Thr848Ser) rs889187666 0.00002
NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu) rs188528606 0.00002
NM_020937.4(FANCM):c.2596C>T (p.Leu866Phe) rs367576875 0.00002
NM_020937.4(FANCM):c.2628T>C (p.Asp876=) rs374313777 0.00002
NM_020937.4(FANCM):c.2734A>G (p.Ile912Val) rs45568842 0.00002
NM_020937.4(FANCM):c.2758C>T (p.Pro920Ser) rs750238406 0.00002
NM_020937.4(FANCM):c.2815G>A (p.Gly939Arg) rs1037864411 0.00002
NM_020937.4(FANCM):c.2878T>C (p.Phe960Leu) rs761671822 0.00002
NM_020937.4(FANCM):c.2890G>A (p.Glu964Lys) rs200017450 0.00002
NM_020937.4(FANCM):c.2903A>G (p.Tyr968Cys) rs752962214 0.00002
NM_020937.4(FANCM):c.2920G>A (p.Asp974Asn) rs753999208 0.00002
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile) rs772477865 0.00002
NM_020937.4(FANCM):c.3137A>G (p.Gln1046Arg) rs910679351 0.00002
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser) rs747787931 0.00002
NM_020937.4(FANCM):c.3347A>G (p.His1116Arg) rs778621580 0.00002
NM_020937.4(FANCM):c.3355G>C (p.Asp1119His) rs370618524 0.00002
NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn) rs142077813 0.00002
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=) rs771150480 0.00002
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala) rs1227473930 0.00002
NM_020937.4(FANCM):c.3558T>C (p.Asn1186=) rs757952471 0.00002
NM_020937.4(FANCM):c.3609T>G (p.Ser1203=) rs372956385 0.00002
NM_020937.4(FANCM):c.3610C>T (p.Arg1204Cys) rs763796272 0.00002
NM_020937.4(FANCM):c.3869C>T (p.Thr1290Ile) rs759166551 0.00002
NM_020937.4(FANCM):c.3935T>C (p.Leu1312Pro) rs200028975 0.00002
NM_020937.4(FANCM):c.4004A>C (p.Lys1335Thr) rs765026410 0.00002
NM_020937.4(FANCM):c.4271G>A (p.Arg1424Gln) rs1393856350 0.00002
NM_020937.4(FANCM):c.4292A>G (p.Lys1431Arg) rs752438783 0.00002
NM_020937.4(FANCM):c.4440A>G (p.Gln1480=) rs567425336 0.00002
NM_020937.4(FANCM):c.4483A>G (p.Ile1495Val) rs765860916 0.00002
NM_020937.4(FANCM):c.4622C>T (p.Ser1541Leu) rs776313378 0.00002
NM_020937.4(FANCM):c.4775C>T (p.Ser1592Leu) rs759778560 0.00002
NM_020937.4(FANCM):c.4784C>A (p.Pro1595His) rs750818919 0.00002
NM_020937.4(FANCM):c.4833G>A (p.Glu1611=) rs1479169742 0.00002
NM_020937.4(FANCM):c.4949A>T (p.Lys1650Ile) rs140993629 0.00002
NM_020937.4(FANCM):c.497C>A (p.Ala166Asp) rs555879731 0.00002
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val) rs759068569 0.00002
NM_020937.4(FANCM):c.5174A>G (p.Asn1725Ser) rs765200148 0.00002
NM_020937.4(FANCM):c.5208G>A (p.Leu1736=) rs746368298 0.00002
NM_020937.4(FANCM):c.5250T>G (p.Pro1750=) rs750305966 0.00002
NM_020937.4(FANCM):c.5340+18G>A rs765324547 0.00002
NM_020937.4(FANCM):c.5341-18T>C rs1479142290 0.00002
NM_020937.4(FANCM):c.5399C>A (p.Pro1800Gln) rs1449697144 0.00002
NM_020937.4(FANCM):c.5407G>A (p.Ala1803Thr) rs749034471 0.00002
NM_020937.4(FANCM):c.5419A>G (p.Thr1807Ala) rs369834971 0.00002
NM_020937.4(FANCM):c.5436G>A (p.Pro1812=) rs377630399 0.00002
NM_020937.4(FANCM):c.5581A>G (p.Met1861Val) rs763226965 0.00002
NM_020937.4(FANCM):c.5631G>C (p.Lys1877Asn) rs761269508 0.00002
NM_020937.4(FANCM):c.5668A>G (p.Met1890Val) rs1413874546 0.00002
NM_020937.4(FANCM):c.5685T>C (p.Cys1895=) rs746870942 0.00002
NM_020937.4(FANCM):c.5708A>G (p.Glu1903Gly) rs569435551 0.00002
NM_020937.4(FANCM):c.5753A>G (p.Tyr1918Cys) rs746039296 0.00002
NM_020937.4(FANCM):c.5849T>C (p.Leu1950Ser) rs559661870 0.00002
NM_020937.4(FANCM):c.5887A>G (p.Thr1963Ala) rs757062269 0.00002
NM_020937.4(FANCM):c.601G>A (p.Gly201Arg) rs139736490 0.00002
NM_020937.4(FANCM):c.6068A>G (p.Tyr2023Cys) rs750156990 0.00002
NM_020937.4(FANCM):c.6099A>G (p.Gln2033=) rs757734261 0.00002
NM_020937.4(FANCM):c.637A>G (p.Ile213Val) rs754976437 0.00002
NM_020937.4(FANCM):c.63G>C (p.Gly21=) rs563248675 0.00002
NM_020937.4(FANCM):c.681+12G>A rs200644561 0.00002
NM_020937.4(FANCM):c.840T>C (p.Tyr280=) rs777422576 0.00002
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln) rs373268822 0.00002
NM_020937.4(FANCM):c.919-8A>G rs781119621 0.00002
NM_020937.4(FANCM):c.996T>C (p.Tyr332=) rs752677621 0.00002
NM_021922.3(FANCE):c.*213T>A rs532782953 0.00002
NM_021922.3(FANCE):c.*322C>T rs559999264 0.00002
NM_021922.3(FANCE):c.1237+8T>A rs1767499963 0.00002
NM_021922.3(FANCE):c.1316+18C>T rs768893669 0.00002
NM_021922.3(FANCE):c.1383+3G>A rs752468400 0.00002
NM_021922.3(FANCE):c.1489A>G (p.Met497Val) rs781338655 0.00002
NM_021922.3(FANCE):c.1510-12C>G rs747704642 0.00002
NM_021922.3(FANCE):c.399C>T (p.Leu133=) rs1056749845 0.00002
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg) rs767509954 0.00002
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys) rs551170184 0.00002
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp) rs771767241 0.00002
NM_021922.3(FANCE):c.851T>C (p.Ile284Thr) rs370661452 0.00002
NM_021922.3(FANCE):c.855+6T>G rs1185107943 0.00002
NM_021922.3(FANCE):c.8C>T (p.Thr3Ile) rs1405929258 0.00002
NM_021922.3(FANCE):c.953_958del (p.Glu318_Ser320delinsGly) rs1475613789 0.00002
NM_021922.3(FANCE):c.970-15G>A rs369631267 0.00002
NM_021922.3(FANCE):c.981G>A (p.Leu327=) rs772385794 0.00002
NM_022725.4(FANCF):c.*555T>C rs1306529494 0.00002
NM_022725.4(FANCF):c.134A>G (p.His45Arg) rs767088554 0.00002
NM_022725.4(FANCF):c.268G>A (p.Asp90Asn) rs370200638 0.00002
NM_022725.4(FANCF):c.279C>T (p.Leu93=) rs199578614 0.00002
NM_022725.4(FANCF):c.58A>G (p.Thr20Ala) rs1328802237 0.00002
NM_022725.4(FANCF):c.654C>G (p.Pro218=) rs779948183 0.00002
NM_022725.4(FANCF):c.701G>A (p.Ser234Asn) rs373273222 0.00002
NM_022725.4(FANCF):c.772G>A (p.Gly258Arg) rs754977013 0.00002
NM_022725.4(FANCF):c.986T>C (p.Leu329Pro) rs766964364 0.00002
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) rs773001248 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.1599T>C (p.Thr533=) rs786201088 0.00002
NM_024675.4(PALB2):c.1767G>A (p.Thr589=) rs769849072 0.00002
NM_024675.4(PALB2):c.187C>T (p.Leu63Phe) rs730881899 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.2612A>G (p.Asp871Gly) rs515726090 0.00002
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser) rs45464500 0.00002
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met) rs61756146 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly) rs786203345 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) rs748363227 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser) rs928144275 0.00002
NM_025215.6(PUS1):c.136C>T (p.Arg46Trp) rs765257355 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025215.6(PUS1):c.683C>T (p.Thr228Met) rs755448329 0.00002
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser) rs1339571276 0.00002
NM_030943.4(AMN):c.110G>A (p.Ser37Asn) rs200648108 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_030943.4(AMN):c.532G>A (p.Asp178Asn) rs575761625 0.00002
NM_032043.3(BRIP1):c.*1330C>T rs933049932 0.00002
NM_032043.3(BRIP1):c.*3000C>G rs1373033399 0.00002
NM_032043.3(BRIP1):c.*3307T>C rs886053199 0.00002
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp) rs587780225 0.00002
NM_032043.3(BRIP1):c.1340+7A>T rs755399646 0.00002
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520 0.00002
NM_032043.3(BRIP1):c.1377A>C (p.Arg459Ser) rs780310294 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032043.3(BRIP1):c.151G>A (p.Gly51Arg) rs1603367704 0.00002
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=) rs372760869 0.00002
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_032043.3(BRIP1):c.1752T>C (p.Thr584=) rs778774207 0.00002
NM_032043.3(BRIP1):c.1759C>G (p.His587Asp) rs876660519 0.00002
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met) rs28997572 0.00002
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533 0.00002
NM_032043.3(BRIP1):c.2129C>T (p.Ser710Phe) rs768393936 0.00002
NM_032043.3(BRIP1):c.2258-15T>C rs780573511 0.00002
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=) rs748981650 0.00002
NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp) rs745782331 0.00002
NM_032043.3(BRIP1):c.2575+7T>A rs750874535 0.00002
NM_032043.3(BRIP1):c.2606A>G (p.Gln869Arg) rs1060501733 0.00002
NM_032043.3(BRIP1):c.2751T>C (p.Ser917=) rs150780318 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=) rs113697814 0.00002
NM_032043.3(BRIP1):c.2905+15T>G rs749855085 0.00002
NM_032043.3(BRIP1):c.2905+4T>C rs373835270 0.00002
NM_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys) rs587782808 0.00002
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu) rs575998972 0.00002
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983 0.00002
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg) rs772709195 0.00002
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923 0.00002
NM_032043.3(BRIP1):c.332C>A (p.Pro111Gln) rs201790351 0.00002
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248 0.00002
NM_032043.3(BRIP1):c.3334G>T (p.Asp1112Tyr) rs968860042 0.00002
NM_032043.3(BRIP1):c.3349T>G (p.Ser1117Ala) rs779860140 0.00002
NM_032043.3(BRIP1):c.3489T>C (p.Asp1163=) rs144245485 0.00002
NM_032043.3(BRIP1):c.3546C>T (p.Ala1182=) rs755440956 0.00002
NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser) rs777630298 0.00002
NM_032043.3(BRIP1):c.3676A>C (p.Thr1226Pro) rs781140410 0.00002
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu) rs587780831 0.00002
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser) rs730881623 0.00002
NM_032043.3(BRIP1):c.397A>T (p.Thr133Ser) rs764256720 0.00002
NM_032043.3(BRIP1):c.507+14A>G rs754102734 0.00002
NM_032043.3(BRIP1):c.507+20A>C rs369270945 0.00002
NM_032043.3(BRIP1):c.518G>A (p.Arg173His) rs761432927 0.00002
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) rs565458815 0.00002
NM_032043.3(BRIP1):c.633del (p.Gly212fs) rs779466229 0.00002
NM_032043.3(BRIP1):c.638A>G (p.His213Arg) rs376760085 0.00002
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala) rs777618772 0.00002
NM_032043.3(BRIP1):c.662C>G (p.Thr221Ser) rs373774920 0.00002
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile) rs745955726 0.00002
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val) rs376893571 0.00002
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln) rs758360637 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala) rs62620988 0.00002
NM_032043.3(BRIP1):c.859G>A (p.Glu287Lys) rs1309409845 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_032043.3(BRIP1):c.94-4A>G rs765154059 0.00002
NM_032444.4(SLX4):c.-305C>T rs886051983 0.00002
NM_032444.4(SLX4):c.-580T>C rs886051985 0.00002
NM_032444.4(SLX4):c.1125A>G (p.Thr375=) rs369510675 0.00002
NM_032444.4(SLX4):c.1150C>A (p.Pro384Thr) rs778504083 0.00002
NM_032444.4(SLX4):c.1163+5G>T rs762454252 0.00002
NM_032444.4(SLX4):c.1163+8G>A rs777094715 0.00002
NM_032444.4(SLX4):c.1192C>T (p.Arg398Trp) rs138799572 0.00002
NM_032444.4(SLX4):c.1234A>G (p.Lys412Glu) rs774436086 0.00002
NM_032444.4(SLX4):c.1255G>A (p.Glu419Lys) rs941244697 0.00002
NM_032444.4(SLX4):c.1335T>G (p.Ser445Arg) rs904007909 0.00002
NM_032444.4(SLX4):c.1404C>G (p.Pro468=) rs765351696 0.00002
NM_032444.4(SLX4):c.1500G>A (p.Thr500=) rs747483922 0.00002
NM_032444.4(SLX4):c.151T>C (p.Phe51Leu) rs769694224 0.00002
NM_032444.4(SLX4):c.1574G>A (p.Arg525His) rs756369289 0.00002
NM_032444.4(SLX4):c.166G>A (p.Ala56Thr) rs746769352 0.00002
NM_032444.4(SLX4):c.1782C>T (p.Gly594=) rs1356071644 0.00002
NM_032444.4(SLX4):c.1806T>C (p.Pro602=) rs925073189 0.00002
NM_032444.4(SLX4):c.1944C>T (p.Gly648=) rs149315267 0.00002
NM_032444.4(SLX4):c.1977G>A (p.Ser659=) rs572117922 0.00002
NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu) rs369805557 0.00002
NM_032444.4(SLX4):c.1994A>G (p.Asp665Gly) rs748574820 0.00002
NM_032444.4(SLX4):c.2013+19C>T rs1463441770 0.00002
NM_032444.4(SLX4):c.2013+20C>T rs779231117 0.00002
NM_032444.4(SLX4):c.2013+8C>A rs372272797 0.00002
NM_032444.4(SLX4):c.2055C>T (p.Val685=) rs775934995 0.00002
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu) rs749399683 0.00002
NM_032444.4(SLX4):c.2157G>T (p.Gln719His) rs768316000 0.00002
NM_032444.4(SLX4):c.2169T>C (p.Asn723=) rs750908864 0.00002
NM_032444.4(SLX4):c.217G>C (p.Glu73Gln) rs139829211 0.00002
NM_032444.4(SLX4):c.2246G>A (p.Arg749His) rs140109914 0.00002
NM_032444.4(SLX4):c.2256G>A (p.Leu752=) rs767795477 0.00002
NM_032444.4(SLX4):c.2301C>T (p.Ser767=) rs555778729 0.00002
NM_032444.4(SLX4):c.2328-17G>A rs766325618 0.00002
NM_032444.4(SLX4):c.2528A>C (p.Gln843Pro) rs762300440 0.00002
NM_032444.4(SLX4):c.2658T>G (p.Val886=) rs769552773 0.00002
NM_032444.4(SLX4):c.2767A>T (p.Met923Leu) rs573280243 0.00002
NM_032444.4(SLX4):c.2843C>T (p.Ala948Val) rs781462011 0.00002
NM_032444.4(SLX4):c.2950G>A (p.Glu984Lys) rs750906921 0.00002
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg) rs776060270 0.00002
NM_032444.4(SLX4):c.3137G>A (p.Arg1046His) rs1008752654 0.00002
NM_032444.4(SLX4):c.3166C>A (p.Leu1056Met) rs773890423 0.00002
NM_032444.4(SLX4):c.3316G>A (p.Val1106Met) rs200057338 0.00002
NM_032444.4(SLX4):c.3321G>A (p.Leu1107=) rs367891675 0.00002
NM_032444.4(SLX4):c.3471G>A (p.Ser1157=) rs748090102 0.00002
NM_032444.4(SLX4):c.3481C>T (p.Leu1161=) rs371122297 0.00002
NM_032444.4(SLX4):c.3583A>G (p.Ile1195Val) rs370761463 0.00002
NM_032444.4(SLX4):c.3669G>A (p.Pro1223=) rs200407926 0.00002
NM_032444.4(SLX4):c.3677G>A (p.Arg1226Gln) rs748607152 0.00002
NM_032444.4(SLX4):c.36C>T (p.Phe12=) rs775948210 0.00002
NM_032444.4(SLX4):c.3846G>A (p.Leu1282=) rs1040333386 0.00002
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met) rs754761366 0.00002
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr) rs763524714 0.00002
NM_032444.4(SLX4):c.3951G>A (p.Pro1317=) rs147600630 0.00002
NM_032444.4(SLX4):c.3962C>T (p.Pro1321Leu) rs778781581 0.00002
NM_032444.4(SLX4):c.3977C>T (p.Thr1326Ile) rs371394594 0.00002
NM_032444.4(SLX4):c.3982G>A (p.Val1328Ile) rs1394177026 0.00002
NM_032444.4(SLX4):c.401C>T (p.Ala134Val) rs759574554 0.00002
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly) rs747230215 0.00002
NM_032444.4(SLX4):c.4069C>A (p.Leu1357Met) rs775694333 0.00002
NM_032444.4(SLX4):c.4116G>T (p.Arg1372=) rs765606538 0.00002
NM_032444.4(SLX4):c.4144A>G (p.Ser1382Gly) rs767790750 0.00002
NM_032444.4(SLX4):c.4155C>G (p.Asn1385Lys) rs1308197455 0.00002
NM_032444.4(SLX4):c.4377C>T (p.Asn1459=) rs773941480 0.00002
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser) rs372321470 0.00002
NM_032444.4(SLX4):c.4449T>C (p.Thr1483=) rs145444328 0.00002
NM_032444.4(SLX4):c.4484C>T (p.Ala1495Val) rs777033175 0.00002
NM_032444.4(SLX4):c.4539T>C (p.Val1513=) rs146731362 0.00002
NM_032444.4(SLX4):c.4685C>T (p.Pro1562Leu) rs1423103812 0.00002
NM_032444.4(SLX4):c.4715C>T (p.Pro1572Leu) rs182432298 0.00002
NM_032444.4(SLX4):c.4739+7G>A rs748897456 0.00002
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=) rs370775954 0.00002
NM_032444.4(SLX4):c.4870C>G (p.Pro1624Ala) rs759305861 0.00002
NM_032444.4(SLX4):c.4953T>C (p.Pro1651=) rs1448549529 0.00002
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg) rs765960272 0.00002
NM_032444.4(SLX4):c.5093C>A (p.Ala1698Asp) rs967813945 0.00002
NM_032444.4(SLX4):c.5106C>T (p.Ser1702=) rs1421905027 0.00002
NM_032444.4(SLX4):c.5153+19T>C rs374696176 0.00002
NM_032444.4(SLX4):c.5242C>T (p.Gln1748Ter) rs776789371 0.00002
NM_032444.4(SLX4):c.5247G>A (p.Ala1749=) rs775552034 0.00002
NM_032444.4(SLX4):c.5423T>G (p.Phe1808Cys) rs371390105 0.00002
NM_032444.4(SLX4):c.5457G>A (p.Gln1819=) rs1471160430 0.00002
NM_032444.4(SLX4):c.700G>A (p.Glu234Lys) rs149779179 0.00002
NM_032444.4(SLX4):c.760+4T>C rs552926547 0.00002
NM_032444.4(SLX4):c.795C>T (p.Asp265=) rs751115644 0.00002
NM_032444.4(SLX4):c.796G>A (p.Ala266Thr) rs543071212 0.00002
NM_032444.4(SLX4):c.7C>T (p.Leu3=) rs751472980 0.00002
NM_032444.4(SLX4):c.801G>A (p.Ala267=) rs375643423 0.00002
NM_032444.4(SLX4):c.802G>A (p.Val268Met) rs1060501798 0.00002
NM_032444.4(SLX4):c.846G>A (p.Ser282=) rs745750001 0.00002
NM_032444.4(SLX4):c.853G>A (p.Asp285Asn) rs749002564 0.00002
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln) rs571996250 0.00002
NM_033022.4(RPS24):c.-23C>T rs766457744 0.00002
NM_033022.4(RPS24):c.60G>A (p.Arg20=) rs751090185 0.00002
NM_033022.4(RPS24):c.6C>T (p.Asn2=) rs746098498 0.00002
NM_033022.4(RPS24):c.82C>G (p.Leu28Val) rs775383590 0.00002
NM_058216.3(RAD51C):c.1026+43C>T rs750859385 0.00002
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys) rs773998134 0.00002
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=) rs559647198 0.00002
NM_058216.3(RAD51C):c.1117G>A (p.Glu373Lys) rs1433497291 0.00002
NM_058216.3(RAD51C):c.146-3C>T rs765143155 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.315A>G (p.Ser105=) rs876660032 0.00002
NM_058216.3(RAD51C):c.354G>C (p.Met118Ile) rs768238518 0.00002
NM_058216.3(RAD51C):c.397C>G (p.Gln133Glu) rs387907159 0.00002
NM_058216.3(RAD51C):c.451G>A (p.Val151Met) rs753912045 0.00002
NM_058216.3(RAD51C):c.453G>A (p.Val151=) rs45553636 0.00002
NM_058216.3(RAD51C):c.481G>C (p.Glu161Gln) rs768903850 0.00002
NM_058216.3(RAD51C):c.513C>T (p.Asp171=) rs140279158 0.00002
NM_058216.3(RAD51C):c.537C>A (p.His179Gln) rs372385738 0.00002
NM_058216.3(RAD51C):c.571+15G>T rs375007340 0.00002
NM_058216.3(RAD51C):c.571+20T>C rs577697136 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_058216.3(RAD51C):c.704A>C (p.Lys235Thr) rs748043225 0.00002
NM_058216.3(RAD51C):c.705+10A>G rs377586976 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr) rs539341386 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp) rs374196453 0.00002
NM_058216.3(RAD51C):c.837+14A>G rs1057517644 0.00002
NM_058216.3(RAD51C):c.837+1G>A rs760235677 0.00002
NM_058216.3(RAD51C):c.904+17A>G rs760664998 0.00002
NM_058216.3(RAD51C):c.923C>G (p.Ala308Gly) rs786203498 0.00002
NM_058216.3(RAD51C):c.945T>C (p.Phe315=) rs201235884 0.00002
NM_058216.3(RAD51C):c.948T>C (p.His316=) rs773196250 0.00002
NM_080669.6(SLC46A1):c.-8G>A rs782192529 0.00002
NM_138477.4(CDAN1):c.1004G>A (p.Arg335Gln) rs766537047 0.00002
NM_138477.4(CDAN1):c.2007+11G>A rs758515470 0.00002
NM_138477.4(CDAN1):c.2750T>G (p.Ile917Ser) rs529452785 0.00002
NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp) rs751799284 0.00002
NM_138477.4(CDAN1):c.3019C>T (p.Arg1007Trp) rs142276684 0.00002
NM_138477.4(CDAN1):c.3043C>T (p.Arg1015Cys) rs764025922 0.00002
NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His) rs146049960 0.00002
NM_138477.4(CDAN1):c.3590A>T (p.Asn1197Ile) rs771780683 0.00002
NM_138477.4(CDAN1):c.701G>A (p.Ser234Asn) rs755238710 0.00002
NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln) rs777323929 0.00002
NM_172002.5(HSCB):c.259dup (p.Thr87fs) rs773607816 0.00002
NM_182916.3(TRNT1):c.1019del (p.Ser339_Ser340insTer) rs755536381 0.00002
NM_182916.3(TRNT1):c.1162G>A (p.Val388Ile) rs1006778318 0.00002
NM_182916.3(TRNT1):c.1190G>C (p.Gly397Ala) rs1427498466 0.00002
NM_182916.3(TRNT1):c.1278A>C (p.Glu426Asp) rs770832123 0.00002
NM_182916.3(TRNT1):c.184G>T (p.Ala62Ser) rs150902982 0.00002
NM_182916.3(TRNT1):c.193G>C (p.Ala65Pro) rs1354319879 0.00002
NM_182916.3(TRNT1):c.210A>C (p.Leu70Phe) rs750056889 0.00002
NM_182916.3(TRNT1):c.282G>A (p.Gln94=) rs527886866 0.00002
NM_182916.3(TRNT1):c.324C>T (p.His108=) rs773050420 0.00002
NM_182916.3(TRNT1):c.325G>A (p.Gly109Arg) rs765959111 0.00002
NM_182916.3(TRNT1):c.395A>G (p.Asp132Gly) rs773948765 0.00002
NM_182916.3(TRNT1):c.43C>T (p.Arg15Cys) rs766234875 0.00002
NM_182916.3(TRNT1):c.448C>T (p.Arg150Cys) rs747332169 0.00002
NM_182916.3(TRNT1):c.549T>G (p.Phe183Leu) rs774353592 0.00002
NM_182916.3(TRNT1):c.65T>G (p.Leu22Arg) rs191706901 0.00002
NM_182916.3(TRNT1):c.847A>G (p.Lys283Glu) rs749437475 0.00002
NM_182916.3(TRNT1):c.885T>C (p.Leu295=) rs747603797 0.00002
NM_198253.3(TERT):c.*64G>A rs1327773385 0.00002
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NM_206965.2(FTCD):c.1166C>G (p.Thr389Arg) rs545214029 0.00002
NM_206965.2(FTCD):c.1379C>T (p.Ser460Leu) rs755986536 0.00002
NM_206965.2(FTCD):c.197C>T (p.Ala66Val) rs199867833 0.00002
NM_206965.2(FTCD):c.847G>A (p.Ala283Thr) rs760635509 0.00002
NM_000032.5(ALAS2):c.110G>A (p.Arg37His) rs756790340 0.00001
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) rs765603040 0.00001
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=) rs772107960 0.00001
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304 0.00001
NM_000037.4(ANK1):c.*1074A>G rs886062933 0.00001
NM_000037.4(ANK1):c.*1120T>C rs977041324 0.00001
NM_000037.4(ANK1):c.*2342C>G rs886062929 0.00001
NM_000037.4(ANK1):c.*48G>A rs752874877 0.00001
NM_000037.4(ANK1):c.*866C>G rs1160580288 0.00001
NM_000037.4(ANK1):c.-33G>A rs776534102 0.00001
NM_000037.4(ANK1):c.1066G>A (p.Val356Ile) rs199832220 0.00001
NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser) rs779654741 0.00001
NM_000037.4(ANK1):c.1230G>C (p.Val410=) rs184006495 0.00001
NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) rs768063027 0.00001
NM_000037.4(ANK1):c.1350G>A (p.Thr450=) rs769803878 0.00001
NM_000037.4(ANK1):c.1602+18G>A rs764064612 0.00001
NM_000037.4(ANK1):c.2197-9A>G rs758665687 0.00001
NM_000037.4(ANK1):c.2370G>T (p.Thr790=) rs540304535 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.3469G>A (p.Asp1157Asn) rs747027965 0.00001
NM_000037.4(ANK1):c.3653G>A (p.Arg1218Gln) rs758602146 0.00001
NM_000037.4(ANK1):c.3709C>A (p.Pro1237Thr) rs765958291 0.00001
NM_000037.4(ANK1):c.384G>A (p.Lys128=) rs758750884 0.00001
NM_000037.4(ANK1):c.4023G>A (p.Ser1341=) rs371816885 0.00001
NM_000037.4(ANK1):c.4037C>T (p.Ala1346Val) rs886062939 0.00001
NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) rs750820522 0.00001
NM_000037.4(ANK1):c.4365C>T (p.Val1455=) rs748684817 0.00001
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000037.4(ANK1):c.5177C>T (p.Thr1726Met) rs200662932 0.00001
NM_000037.4(ANK1):c.5289A>G (p.Thr1763=) rs761133472 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.5448G>A (p.Thr1816=) rs146637140 0.00001
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) rs137852831 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.660C>T (p.Asn220=) rs773555671 0.00001
NM_000037.4(ANK1):c.711+13C>T rs763737257 0.00001
NM_000037.4(ANK1):c.722C>T (p.Thr241Met) rs761960519 0.00001
NM_000037.4(ANK1):c.801C>T (p.Thr267=) rs780194667 0.00001
NM_000037.4(ANK1):c.947A>G (p.Asp316Gly) rs760321571 0.00001
NM_000059.4(BRCA2):c.*271C>A rs868342410 0.00001
NM_000059.4(BRCA2):c.*50A>G rs761312704 0.00001
NM_000059.4(BRCA2):c.-40+7G>T rs1555279969 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=) rs779075029 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295 0.00001
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3495T>C (p.His1165=) rs776655838 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His) rs80358685 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr) rs377639990 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln) rs41293467 0.00001
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217 0.00001
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile) rs587782060 0.00001
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys) rs80358767 0.00001
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val) rs397507360 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739 0.00001
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn) rs398122547 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys) rs397507838 0.00001
NM_000059.4(BRCA2):c.628A>G (p.Ile210Val) rs1555281106 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560 0.00001
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344 0.00001
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile) rs786203098 0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503 0.00001
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly) rs80358895 0.00001
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940 0.00001
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=) rs764698623 0.00001
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg) rs587782519 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val) rs80359097 0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476 0.00001
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568 0.00001
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365 0.00001
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289 0.00001
NM_000059.4(BRCA2):c.963A>G (p.Gln321=) rs276174927 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs) rs730881619 0.00001
NM_000096.4(CP):c.*343A>G rs886058085 0.00001
NM_000096.4(CP):c.1036+16C>T rs376410072 0.00001
NM_000096.4(CP):c.1036+8A>G rs369718195 0.00001
NM_000096.4(CP):c.1037-3C>A rs754289834 0.00001
NM_000096.4(CP):c.1039G>A (p.Gly347Ser) rs761317252 0.00001
NM_000096.4(CP):c.1098C>T (p.Ile366=) rs117829763 0.00001
NM_000096.4(CP):c.1188A>G (p.Glu396=) rs928128624 0.00001
NM_000096.4(CP):c.1209-2A>G rs386134137 0.00001
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090 0.00001
NM_000096.4(CP):c.1277G>A (p.Arg426His) rs181428197 0.00001
NM_000096.4(CP):c.1293C>T (p.Ala431=) rs758930665 0.00001
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) rs764238637 0.00001
NM_000096.4(CP):c.1355T>C (p.Val452Ala) rs761433684 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.13A>G (p.Ile5Val) rs766078094 0.00001
NM_000096.4(CP):c.1405G>A (p.Gly469Arg) rs748447606 0.00001
NM_000096.4(CP):c.1426G>A (p.Glu476Lys) rs1197002943 0.00001
NM_000096.4(CP):c.1435G>A (p.Gly479Arg) rs773337495 0.00001
NM_000096.4(CP):c.146+7C>T rs1728813630 0.00001
NM_000096.4(CP):c.1478C>T (p.Pro493Leu) rs1391447500 0.00001
NM_000096.4(CP):c.1546A>G (p.Thr516Ala) rs780668014 0.00001
NM_000096.4(CP):c.1682A>G (p.Lys561Arg) rs1428887668 0.00001
NM_000096.4(CP):c.1713+15G>A rs1400784376 0.00001
NM_000096.4(CP):c.1713+3A>G rs372361874 0.00001
NM_000096.4(CP):c.1818G>A (p.Gln606=) rs766556425 0.00001
NM_000096.4(CP):c.1819G>A (p.Val607Met) rs1158598597 0.00001
NM_000096.4(CP):c.1865-5T>A rs750574317 0.00001
NM_000096.4(CP):c.1868T>C (p.Met623Thr) rs1328458846 0.00001
NM_000096.4(CP):c.188T>C (p.Ile63Thr) rs759185877 0.00001
NM_000096.4(CP):c.1896G>A (p.Pro632=) rs764073986 0.00001
NM_000096.4(CP):c.1900C>A (p.Leu634Ile) rs200864206 0.00001
NM_000096.4(CP):c.1923G>A (p.Ser641=) rs745966582 0.00001
NM_000096.4(CP):c.1954G>A (p.Glu652Lys) rs141425435 0.00001
NM_000096.4(CP):c.1974A>C (p.Ile658=) rs751761820 0.00001
NM_000096.4(CP):c.2065C>T (p.Pro689Ser) rs200353789 0.00001
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) rs886058087 0.00001
NM_000096.4(CP):c.2224G>C (p.Glu742Gln) rs527915587 0.00001
NM_000096.4(CP):c.2266C>A (p.His756Asn) rs773420516 0.00001
NM_000096.4(CP):c.22A>G (p.Ile8Val) rs770665382 0.00001
NM_000096.4(CP):c.2353C>T (p.Arg785Trp) rs775583038 0.00001
NM_000096.4(CP):c.2402A>G (p.Glu801Gly) rs984317340 0.00001
NM_000096.4(CP):c.2434C>A (p.Leu812Ile) rs770844193 0.00001
NM_000096.4(CP):c.2442A>G (p.Ala814=) rs762942794 0.00001
NM_000096.4(CP):c.2491C>T (p.Pro831Ser) rs779811076 0.00001
NM_000096.4(CP):c.2498C>G (p.Ser833Ter) rs369900671 0.00001
NM_000096.4(CP):c.2500A>G (p.Ile834Val) rs1377096899 0.00001
NM_000096.4(CP):c.2555-20T>C rs1725654318 0.00001
NM_000096.4(CP):c.2593T>C (p.Ser865Pro) rs758596793 0.00001
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_000096.4(CP):c.2669A>G (p.Tyr890Cys) rs576931228 0.00001
NM_000096.4(CP):c.2677T>G (p.Leu893Val) rs769138783 0.00001
NM_000096.4(CP):c.2687C>T (p.Pro896Leu) rs1415343557 0.00001
NM_000096.4(CP):c.2689_2690del (p.Leu897fs) rs386134153 0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.2816C>G (p.Ser939Cys) rs781046060 0.00001
NM_000096.4(CP):c.3101G>C (p.Gly1034Ala) rs1234930172 0.00001
NM_000096.4(CP):c.338C>T (p.Ala113Val) rs1378270514 0.00001
NM_000096.4(CP):c.395-1G>A rs386134135 0.00001
NM_000096.4(CP):c.416C>T (p.Thr139Ile) rs749950432 0.00001
NM_000096.4(CP):c.41G>A (p.Ser14Asn) rs892697970 0.00001
NM_000096.4(CP):c.462G>A (p.Gln154=) rs766925024 0.00001
NM_000096.4(CP):c.471C>T (p.Tyr157=) rs773374620 0.00001
NM_000096.4(CP):c.484A>T (p.Thr162Ser) rs1428783802 0.00001
NM_000096.4(CP):c.514G>C (p.Gly172Arg) rs768492670 0.00001
NM_000096.4(CP):c.528T>C (p.Thr176=) rs778533284 0.00001
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123 0.00001
NM_000096.4(CP):c.553G>A (p.Ala185Thr) rs960307294 0.00001
NM_000096.4(CP):c.566T>C (p.Ile189Thr) rs1263674373 0.00001
NM_000096.4(CP):c.56C>T (p.Ala19Val) rs532618448 0.00001
NM_000096.4(CP):c.607+15T>C rs1439440422 0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155 0.00001
NM_000096.4(CP):c.704A>G (p.Asn235Ser) rs1336508383 0.00001
NM_000096.4(CP):c.791G>C (p.Gly264Ala) rs765086883 0.00001
NM_000096.4(CP):c.811C>T (p.Pro271Ser) rs774692355 0.00001
NM_000096.4(CP):c.901G>A (p.Gly301Arg) rs753356388 0.00001
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_000135.4(FANCA):c.-28C>G rs886052490 0.00001
NM_000135.4(FANCA):c.1006+10G>A rs762536802 0.00001
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.1007-7C>G rs111271660 0.00001
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys) rs374835951 0.00001
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter) rs755018069 0.00001
NM_000135.4(FANCA):c.1068C>G (p.Thr356=) rs1161525939 0.00001
NM_000135.4(FANCA):c.1077C>T (p.Tyr359=) rs2040108827 0.00001
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys) rs375895456 0.00001
NM_000135.4(FANCA):c.107A>G (p.Asn36Ser) rs1210459454 0.00001
NM_000135.4(FANCA):c.1084-18C>T rs368730853 0.00001
NM_000135.4(FANCA):c.1084-7A>T rs543350684 0.00001
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser) rs780833865 0.00001
NM_000135.4(FANCA):c.1137G>A (p.Leu379=) rs372829977 0.00001
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala) rs774319222 0.00001
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter) rs769718381 0.00001
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe) rs751071791 0.00001
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr) rs757760966 0.00001
NM_000135.4(FANCA):c.1158G>T (p.Trp386Cys) rs752864343 0.00001
NM_000135.4(FANCA):c.1194C>T (p.Val398=) rs1158857420 0.00001
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) rs1180493781 0.00001
NM_000135.4(FANCA):c.1211A>G (p.Gln404Arg) rs769664248 0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1221T>G (p.Leu407=) rs780963734 0.00001
NM_000135.4(FANCA):c.1225+7T>C rs200008791 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1226-6A>T rs200953509 0.00001
NM_000135.4(FANCA):c.1233G>A (p.Val411=) rs781735964 0.00001
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr) rs912838333 0.00001
NM_000135.4(FANCA):c.1247C>A (p.Ala416Asp) rs750689577 0.00001
NM_000135.4(FANCA):c.1251G>T (p.Gln417His) rs779068860 0.00001
NM_000135.4(FANCA):c.1257C>T (p.Phe419=) rs764140346 0.00001
NM_000135.4(FANCA):c.1265G>A (p.Cys422Tyr) rs759128726 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.1284C>T (p.Val428=) rs780409039 0.00001
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val) rs772567344 0.00001
NM_000135.4(FANCA):c.1297G>A (p.Val433Ile) rs753987812 0.00001
NM_000135.4(FANCA):c.1305C>T (p.Arg435=) rs756132296 0.00001
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys) rs142990858 0.00001
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn) rs1262122499 0.00001
NM_000135.4(FANCA):c.1360-12C>T rs951725614 0.00001
NM_000135.4(FANCA):c.1360-15C>G rs773560865 0.00001
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553 0.00001
NM_000135.4(FANCA):c.136T>C (p.Ser46Pro) rs2041098152 0.00001
NM_000135.4(FANCA):c.1380A>G (p.Arg460=) rs1035276734 0.00001
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg) rs565303230 0.00001
NM_000135.4(FANCA):c.1404G>C (p.Lys468Asn) rs755713516 0.00001
NM_000135.4(FANCA):c.1416C>T (p.Phe472=) rs750815711 0.00001
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) rs1337670144 0.00001
NM_000135.4(FANCA):c.1425G>A (p.Thr475=) rs1330646289 0.00001
NM_000135.4(FANCA):c.1440C>T (p.Leu480=) rs1401053307 0.00001
NM_000135.4(FANCA):c.1460G>A (p.Arg487Gln) rs377637236 0.00001
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys) rs748907151 0.00001
NM_000135.4(FANCA):c.1470+16C>T rs929828617 0.00001
NM_000135.4(FANCA):c.1471-16T>C rs1450990297 0.00001
NM_000135.4(FANCA):c.1471-3C>G rs1291307989 0.00001
NM_000135.4(FANCA):c.1471-8A>G rs374717514 0.00001
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe) rs1060501886 0.00001
NM_000135.4(FANCA):c.1485C>T (p.His495=) rs773084743 0.00001
NM_000135.4(FANCA):c.1491C>T (p.Pro497=) rs979593313 0.00001
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser) rs776371246 0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=) rs139276494 0.00001
NM_000135.4(FANCA):c.1512C>T (p.Arg504=) rs1298473070 0.00001
NM_000135.4(FANCA):c.1513T>G (p.Ser505Ala) rs1218121624 0.00001
NM_000135.4(FANCA):c.1518C>A (p.Leu506=) rs781524409 0.00001
NM_000135.4(FANCA):c.1521C>T (p.Leu507=) rs2039775150 0.00001
NM_000135.4(FANCA):c.1550G>A (p.Arg517Gln) rs1050329686 0.00001
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn) rs754123446 0.00001
NM_000135.4(FANCA):c.1563C>T (p.Leu521=) rs995956285 0.00001
NM_000135.4(FANCA):c.1566G>A (p.Lys522=) rs1276716915 0.00001
NM_000135.4(FANCA):c.1567-15G>C rs748616829 0.00001
NM_000135.4(FANCA):c.1567-18T>C rs771520715 0.00001
NM_000135.4(FANCA):c.1567-4G>A rs1391630461 0.00001
NM_000135.4(FANCA):c.1567-7C>A rs780475585 0.00001
NM_000135.4(FANCA):c.1567-9T>A rs747184077 0.00001
NM_000135.4(FANCA):c.1587A>T (p.Gly529=) rs1300063021 0.00001
NM_000135.4(FANCA):c.158G>C (p.Ser53Thr) rs761614742 0.00001
NM_000135.4(FANCA):c.1590C>G (p.Leu530=) rs773856680 0.00001
NM_000135.4(FANCA):c.160C>T (p.His54Tyr) rs1383572316 0.00001
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn) rs775853544 0.00001
NM_000135.4(FANCA):c.1626+13G>C rs1341742486 0.00001
NM_000135.4(FANCA):c.1627-13G>T rs372205127 0.00001
NM_000135.4(FANCA):c.1627-15C>T rs779706968 0.00001
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361 0.00001
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) rs779745863 0.00001
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys) rs1012809189 0.00001
NM_000135.4(FANCA):c.1667T>C (p.Met556Thr) rs750091512 0.00001
NM_000135.4(FANCA):c.1689C>T (p.Asn563=) rs773446807 0.00001
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu) rs1032990637 0.00001
NM_000135.4(FANCA):c.1692C>T (p.Ile564=) rs1176095983 0.00001
NM_000135.4(FANCA):c.1695A>T (p.Pro565=) rs139181196 0.00001
NM_000135.4(FANCA):c.169C>T (p.Leu57=) rs368828271 0.00001
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726 0.00001
NM_000135.4(FANCA):c.1715+15C>T rs755381554 0.00001
NM_000135.4(FANCA):c.1716-10T>G rs1270971513 0.00001
NM_000135.4(FANCA):c.1725G>A (p.Arg575=) rs551108542 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791 0.00001
NM_000135.4(FANCA):c.1776+10C>T rs767506133 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.1777-10C>G rs781605892 0.00001
NM_000135.4(FANCA):c.1777-4A>G rs1422606508 0.00001
NM_000135.4(FANCA):c.177C>T (p.Ala59=) rs1439661268 0.00001
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys) rs765036744 0.00001
NM_000135.4(FANCA):c.1803G>A (p.Val601=) rs757053400 0.00001
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser) rs766939940 0.00001
NM_000135.4(FANCA):c.1827-3C>T rs772236777 0.00001
NM_000135.4(FANCA):c.1833T>C (p.Asp611=) rs749173228 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.1842C>A (p.Pro614=) rs769546891 0.00001
NM_000135.4(FANCA):c.184del (p.Glu63fs) rs1260966020 0.00001
NM_000135.4(FANCA):c.1857C>T (p.Ser619=) rs754522096 0.00001
NM_000135.4(FANCA):c.1860C>A (p.Thr620=) rs1041601770 0.00001
NM_000135.4(FANCA):c.1872C>A (p.Ala624=) rs571449307 0.00001
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr) rs766422868 0.00001
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val) rs199599499 0.00001
NM_000135.4(FANCA):c.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.18C>T (p.Val6=) rs916719756 0.00001
NM_000135.4(FANCA):c.190-1G>C rs765277254 0.00001
NM_000135.4(FANCA):c.1900+1G>A rs1598120768 0.00001
NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly) rs151232042 0.00001
NM_000135.4(FANCA):c.1902T>G (p.Asp634Glu) rs187300458 0.00001
NM_000135.4(FANCA):c.1906G>C (p.Ala636Pro) rs1236146369 0.00001
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr) rs1293899212 0.00001
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683 0.00001
NM_000135.4(FANCA):c.1938T>C (p.Ala646=) rs1429790431 0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719 0.00001
NM_000135.4(FANCA):c.2010T>C (p.Arg670=) rs1335322113 0.00001
NM_000135.4(FANCA):c.2013T>C (p.Asp671=) rs1225307143 0.00001
NM_000135.4(FANCA):c.2015-8C>T rs747546976 0.00001
NM_000135.4(FANCA):c.2018T>C (p.Ile673Thr) rs1319264119 0.00001
NM_000135.4(FANCA):c.2022G>A (p.Ser674=) rs371997754 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878 0.00001
NM_000135.4(FANCA):c.2066G>A (p.Gly689Asp) rs769209218 0.00001
NM_000135.4(FANCA):c.207T>C (p.Cys69=) rs941660593 0.00001
NM_000135.4(FANCA):c.2085C>T (p.Ser695=) rs746285925 0.00001
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg) rs55692229 0.00001
NM_000135.4(FANCA):c.2111T>A (p.Leu704His) rs1239942003 0.00001
NM_000135.4(FANCA):c.2114G>A (p.Ser705Asn) rs762616165 0.00001
NM_000135.4(FANCA):c.2115C>T (p.Ser705=) rs1158246204 0.00001
NM_000135.4(FANCA):c.2124G>A (p.Thr708=) rs201668358 0.00001
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala) rs746373917 0.00001
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu) rs148203537 0.00001
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln) rs1054636249 0.00001
NM_000135.4(FANCA):c.2142G>A (p.Arg714=) rs1387853957 0.00001
NM_000135.4(FANCA):c.2146C>A (p.His716Asn) rs754896727 0.00001
NM_000135.4(FANCA):c.2147A>G (p.His716Arg) rs751474452 0.00001
NM_000135.4(FANCA):c.2149A>G (p.Met717Val) rs766173155 0.00001
NM_000135.4(FANCA):c.2151+13G>A rs554897273 0.00001
NM_000135.4(FANCA):c.2152-10G>C rs557705265 0.00001
NM_000135.4(FANCA):c.2152-18A>G rs760146323 0.00001
NM_000135.4(FANCA):c.2152-7T>C rs763531092 0.00001
NM_000135.4(FANCA):c.2167C>T (p.Leu723=) rs2039290580 0.00001
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr) rs1425954290 0.00001
NM_000135.4(FANCA):c.2182C>G (p.Gln728Glu) rs780192381 0.00001
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser) rs1440861257 0.00001
NM_000135.4(FANCA):c.2190G>A (p.Leu730=) rs745845683 0.00001
NM_000135.4(FANCA):c.2199C>T (p.Ala733=) rs757095786 0.00001
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485 0.00001
NM_000135.4(FANCA):c.220C>G (p.Leu74Val) rs770294560 0.00001
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598 0.00001
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys) rs536086288 0.00001
NM_000135.4(FANCA):c.2222+10C>T rs770711287 0.00001
NM_000135.4(FANCA):c.2222+14del rs1423390984 0.00001
NM_000135.4(FANCA):c.2222+17C>T rs755657610 0.00001
NM_000135.4(FANCA):c.2222+1G>A rs775388912 0.00001
NM_000135.4(FANCA):c.2223-15C>T rs775834091 0.00001
NM_000135.4(FANCA):c.2226G>A (p.Gln742=) rs1336946372 0.00001
NM_000135.4(FANCA):c.2233dup (p.Trp745fs) rs2039278551 0.00001
NM_000135.4(FANCA):c.2239G>T (p.Ala747Ser) rs931143821 0.00001
NM_000135.4(FANCA):c.2247C>T (p.Phe749=) rs772842754 0.00001
NM_000135.4(FANCA):c.2295C>G (p.Leu765=) rs1193622990 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2305C>G (p.Leu769Val) rs917707717 0.00001
NM_000135.4(FANCA):c.2316+19G>A rs1421219472 0.00001
NM_000135.4(FANCA):c.2316+7C>G rs1366206489 0.00001
NM_000135.4(FANCA):c.2317-6T>C rs760617819 0.00001
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451 0.00001
NM_000135.4(FANCA):c.2326C>T (p.Leu776=) rs527300192 0.00001
NM_000135.4(FANCA):c.2333C>T (p.Ala778Val) rs777163986 0.00001
NM_000135.4(FANCA):c.2336C>T (p.Pro779Leu) rs1400044983 0.00001
NM_000135.4(FANCA):c.2348G>T (p.Gly783Val) rs935069258 0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=) rs765883419 0.00001
NM_000135.4(FANCA):c.2407G>A (p.Val803Met) rs769083458 0.00001
NM_000135.4(FANCA):c.2417C>T (p.Pro806Leu) rs1352100383 0.00001
NM_000135.4(FANCA):c.2419G>A (p.Ala807Thr) rs2039263876 0.00001
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val) rs144570744 0.00001
NM_000135.4(FANCA):c.2435T>G (p.Leu812Arg) rs749326662 0.00001
NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser) rs2039263207 0.00001
NM_000135.4(FANCA):c.2448G>A (p.Ala816=) rs752705496 0.00001
NM_000135.4(FANCA):c.2450T>A (p.Leu817His) rs1307805145 0.00001
NM_000135.4(FANCA):c.2456A>T (p.Asp819Val) rs976586387 0.00001
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn) rs1339411422 0.00001
NM_000135.4(FANCA):c.2467A>T (p.Thr823Ser) rs1292223325 0.00001
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys) rs751222471 0.00001
NM_000135.4(FANCA):c.2481G>A (p.Arg827=) rs749895479 0.00001
NM_000135.4(FANCA):c.2487C>T (p.Ser829=) rs776013293 0.00001
NM_000135.4(FANCA):c.2502G>A (p.Leu834=) rs770993950 0.00001
NM_000135.4(FANCA):c.2504+10T>G rs770043372 0.00001
NM_000135.4(FANCA):c.2517A>G (p.Ala839=) rs1325322271 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484 0.00001
NM_000135.4(FANCA):c.2573G>C (p.Ser858Thr) rs1291169859 0.00001
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362 0.00001
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser) rs1331781220 0.00001
NM_000135.4(FANCA):c.2601+10C>G rs745601855 0.00001
NM_000135.4(FANCA):c.2601+15T>C rs373423046 0.00001
NM_000135.4(FANCA):c.2601+1G>T rs1188581065 0.00001
NM_000135.4(FANCA):c.2601+20A>C rs557565599 0.00001
NM_000135.4(FANCA):c.2602-10T>C rs899604473 0.00001
NM_000135.4(FANCA):c.2602-20C>T rs752731568 0.00001
NM_000135.4(FANCA):c.2602-8T>C rs772897825 0.00001
NM_000135.4(FANCA):c.2602-9C>G rs1406509004 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly) rs758619078 0.00001
NM_000135.4(FANCA):c.2611C>G (p.Leu871Val) rs779617838 0.00001
NM_000135.4(FANCA):c.2613C>T (p.Leu871=) rs532032511 0.00001
NM_000135.4(FANCA):c.2628C>T (p.Phe876=) rs368987148 0.00001
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter) rs762804216 0.00001
NM_000135.4(FANCA):c.2651C>G (p.Ser884Cys) rs776492214 0.00001
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316 0.00001
NM_000135.4(FANCA):c.2696C>T (p.Pro899Leu) rs1424540726 0.00001
NM_000135.4(FANCA):c.2700T>G (p.Ser900=) rs755783870 0.00001
NM_000135.4(FANCA):c.2704G>C (p.Asp902His) rs1009521389 0.00001
NM_000135.4(FANCA):c.2716G>A (p.Ala906Thr) rs763769211 0.00001
NM_000135.4(FANCA):c.2730C>T (p.Leu910=) rs749774911 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr) rs748454613 0.00001
NM_000135.4(FANCA):c.2748C>T (p.Phe916=) rs755154360 0.00001
NM_000135.4(FANCA):c.2750G>A (p.Arg917Gln) rs747220449 0.00001
NM_000135.4(FANCA):c.2778+14C>T rs767053728 0.00001
NM_000135.4(FANCA):c.2779-9C>G rs764825402 0.00001
NM_000135.4(FANCA):c.2786del (p.Tyr929fs) rs779480428 0.00001
NM_000135.4(FANCA):c.2800C>A (p.His934Asn) rs774871582 0.00001
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met) rs769970040 0.00001
NM_000135.4(FANCA):c.283+18T>A rs1266280397 0.00001
NM_000135.4(FANCA):c.283+9T>C rs779593295 0.00001
NM_000135.4(FANCA):c.284-9G>A rs367672895 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.2852+13A>T rs189890126 0.00001
NM_000135.4(FANCA):c.2852+8T>C rs763249422 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.2873C>T (p.Ala958Val) rs1374262828 0.00001
NM_000135.4(FANCA):c.2874G>A (p.Ala958=) rs199916178 0.00001
NM_000135.4(FANCA):c.2879A>G (p.His960Arg) rs1460469198 0.00001
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871 0.00001
NM_000135.4(FANCA):c.2904G>T (p.Ser968=) rs568354015 0.00001
NM_000135.4(FANCA):c.2922C>T (p.Asp974=) rs756241886 0.00001
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) rs762638564 0.00001
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418 0.00001
NM_000135.4(FANCA):c.2940G>A (p.Ala980=) rs769418220 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.2947A>T (p.Ile983Phe) rs375312389 0.00001
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe) rs751380220 0.00001
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr) rs752735858 0.00001
NM_000135.4(FANCA):c.2974C>T (p.His992Tyr) rs967438026 0.00001
NM_000135.4(FANCA):c.2975A>T (p.His992Leu) rs184007986 0.00001
NM_000135.4(FANCA):c.2981+12A>G rs1416505835 0.00001
NM_000135.4(FANCA):c.2982-17T>C rs763475096 0.00001
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=) rs758384536 0.00001
NM_000135.4(FANCA):c.3003A>C (p.Ser1001=) rs2038619241 0.00001
NM_000135.4(FANCA):c.3047A>G (p.Asp1016Gly) rs1303235237 0.00001
NM_000135.4(FANCA):c.3065A>G (p.Gln1022Arg) rs933911279 0.00001
NM_000135.4(FANCA):c.3067-20A>C rs1213920786 0.00001
NM_000135.4(FANCA):c.3077C>T (p.Ala1026Val) rs545999415 0.00001
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) rs35402142 0.00001
NM_000135.4(FANCA):c.3108G>C (p.Val1036=) rs759859528 0.00001
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr) rs771174892 0.00001
NM_000135.4(FANCA):c.3125C>T (p.Pro1042Leu) rs1173497525 0.00001
NM_000135.4(FANCA):c.312G>A (p.Arg104=) rs937043976 0.00001
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr) rs747913731 0.00001
NM_000135.4(FANCA):c.3153T>C (p.Ile1051=) rs1401723593 0.00001
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=) rs778275451 0.00001
NM_000135.4(FANCA):c.3173C>T (p.Ala1058Val) rs370873098 0.00001
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807 0.00001
NM_000135.4(FANCA):c.3186G>A (p.Gly1062=) rs2038517320 0.00001
NM_000135.4(FANCA):c.3189G>C (p.Trp1063Cys) rs776391208 0.00001
NM_000135.4(FANCA):c.318G>T (p.Gly106=) rs1288618851 0.00001
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=) rs768502785 0.00001
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met) rs140124051 0.00001
NM_000135.4(FANCA):c.3215A>G (p.Gln1072Arg) rs1013239803 0.00001
NM_000135.4(FANCA):c.3223C>T (p.Leu1075=) rs751987951 0.00001
NM_000135.4(FANCA):c.3231G>A (p.Met1077Ile) rs2038515231 0.00001
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp) rs760392231 0.00001
NM_000135.4(FANCA):c.3239+18C>G rs781742623 0.00001
NM_000135.4(FANCA):c.3239+8C>G rs2038514547 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.324C>T (p.Pro108=) rs775822054 0.00001
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys) rs764206631 0.00001
NM_000135.4(FANCA):c.3268C>T (p.Leu1090Phe) rs1567603054 0.00001
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=) rs762719233 0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) rs772828870 0.00001
NM_000135.4(FANCA):c.3300C>T (p.Pro1100=) rs1372873475 0.00001
NM_000135.4(FANCA):c.3321G>A (p.Gln1107=) rs1276452090 0.00001
NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile) rs1204335568 0.00001
NM_000135.4(FANCA):c.3349-14G>A rs1248372954 0.00001
NM_000135.4(FANCA):c.3349-17C>T rs962847137 0.00001
NM_000135.4(FANCA):c.3349-5T>C rs1055846604 0.00001
NM_000135.4(FANCA):c.3349-9C>G rs1463228706 0.00001
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664 0.00001
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968 0.00001
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg) rs1437529209 0.00001
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr) rs1162813981 0.00001
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) rs946344673 0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346 0.00001
NM_000135.4(FANCA):c.3389T>C (p.Ile1130Thr) rs2038408218 0.00001
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu) rs149903404 0.00001
NM_000135.4(FANCA):c.33G>C (p.Ser11=) rs1159682058 0.00001
NM_000135.4(FANCA):c.3409-16G>C rs1340274026 0.00001
NM_000135.4(FANCA):c.3409-4G>T rs2038401980 0.00001
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282 0.00001
NM_000135.4(FANCA):c.3447C>T (p.Ser1149=) rs2038400334 0.00001
NM_000135.4(FANCA):c.3448C>T (p.Leu1150=) rs369073173 0.00001
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547 0.00001
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=) rs768306527 0.00001
NM_000135.4(FANCA):c.3513+13T>C rs560352340 0.00001
NM_000135.4(FANCA):c.3513+1G>A rs1188082371 0.00001
NM_000135.4(FANCA):c.3513+7C>G rs2038397980 0.00001
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=) rs765106818 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.353C>T (p.Ala118Val) rs1201642328 0.00001
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) rs201492940 0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) rs748713183 0.00001
NM_000135.4(FANCA):c.3558G>A (p.Arg1186=) rs1248260786 0.00001
NM_000135.4(FANCA):c.3561A>G (p.Arg1187=) rs781679210 0.00001
NM_000135.4(FANCA):c.3594G>A (p.Gln1198=) rs935013716 0.00001
NM_000135.4(FANCA):c.3612G>A (p.Arg1204=) rs762402959 0.00001
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn) rs1351484293 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3626+7G>A rs933657325 0.00001
NM_000135.4(FANCA):c.3627-16G>A rs369154534 0.00001
NM_000135.4(FANCA):c.3627-4C>T rs2062172483 0.00001
NM_000135.4(FANCA):c.3627-5C>G rs1417894512 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3646G>A (p.Ala1216Thr) rs1262639465 0.00001
NM_000135.4(FANCA):c.3651C>T (p.Ser1217=) rs1351099497 0.00001
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser) rs773150877 0.00001
NM_000135.4(FANCA):c.3660C>T (p.Pro1220=) rs751703958 0.00001
NM_000135.4(FANCA):c.3690G>A (p.Leu1230=) rs1369764790 0.00001
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) rs751899346 0.00001
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783 0.00001
NM_000135.4(FANCA):c.3720A>G (p.Glu1240=) rs2062170339 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3736C>T (p.Leu1246=) rs2062169927 0.00001
NM_000135.4(FANCA):c.3738A>G (p.Leu1246=) rs2062169862 0.00001
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu) rs777313447 0.00001
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys) rs766875357 0.00001
NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln) rs766875357 0.00001
NM_000135.4(FANCA):c.3765+16C>A rs745639466 0.00001
NM_000135.4(FANCA):c.3766-2A>G rs1219402916 0.00001
NM_000135.4(FANCA):c.3768A>G (p.Leu1256=) rs747616573 0.00001
NM_000135.4(FANCA):c.3802C>T (p.Leu1268=) rs143982249 0.00001
NM_000135.4(FANCA):c.3804G>A (p.Leu1268=) rs1449170388 0.00001
NM_000135.4(FANCA):c.3805C>T (p.Leu1269=) rs757641646 0.00001
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu) rs752800577 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val) rs759514393 0.00001
NM_000135.4(FANCA):c.3822C>T (p.Thr1274=) rs1382340096 0.00001
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn) rs914045767 0.00001
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) rs768380959 0.00001
NM_000135.4(FANCA):c.3849G>T (p.Lys1283Asn) rs749869884 0.00001
NM_000135.4(FANCA):c.3857A>C (p.His1286Pro) rs138620653 0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192 0.00001
NM_000135.4(FANCA):c.3861T>A (p.Val1287=) rs1227504086 0.00001
NM_000135.4(FANCA):c.3870A>G (p.Ala1290=) rs780156842 0.00001
NM_000135.4(FANCA):c.387G>A (p.Ala129=) rs1181727153 0.00001
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr) rs1261384324 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131 0.00001
NM_000135.4(FANCA):c.3951G>C (p.Arg1317=) rs1439529670 0.00001
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg) rs1439125894 0.00001
NM_000135.4(FANCA):c.3954C>G (p.Leu1318=) rs187297609 0.00001
NM_000135.4(FANCA):c.3960C>T (p.Leu1320=) rs541385700 0.00001
NM_000135.4(FANCA):c.3969C>T (p.Ala1323=) rs1337959697 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.3972G>C (p.Pro1324=) rs1446370085 0.00001
NM_000135.4(FANCA):c.39G>C (p.Gln13His) rs1486155993 0.00001
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000135.4(FANCA):c.4011-3_4011-2del rs911481295 0.00001
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe) rs112734327 0.00001
NM_000135.4(FANCA):c.4029T>C (p.His1343=) rs745577614 0.00001
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln) rs761934804 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 0.00001
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter) rs745688750 0.00001
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His) rs1041491550 0.00001
NM_000135.4(FANCA):c.4099C>G (p.Leu1367Val) rs2062056417 0.00001
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882 0.00001
NM_000135.4(FANCA):c.414T>G (p.Thr138=) rs574311470 0.00001
NM_000135.4(FANCA):c.4159A>G (p.Lys1387Glu) rs1436768029 0.00001
NM_000135.4(FANCA):c.4167+2C>T rs374765708 0.00001
NM_000135.4(FANCA):c.4183C>T (p.Leu1395=) rs780156946 0.00001
NM_000135.4(FANCA):c.4186A>G (p.Ile1396Val) rs1376923890 0.00001
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met) rs1441175300 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=) rs1379441535 0.00001
NM_000135.4(FANCA):c.4251C>T (p.His1417=) rs752333498 0.00001
NM_000135.4(FANCA):c.4254G>C (p.Val1418=) rs200284171 0.00001
NM_000135.4(FANCA):c.4264C>T (p.Leu1422=) rs753660236 0.00001
NM_000135.4(FANCA):c.427-6T>C rs1295402252 0.00001
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) rs147406377 0.00001
NM_000135.4(FANCA):c.4298G>A (p.Ser1433Asn) rs747310276 0.00001
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=) rs371228419 0.00001
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val) rs2062029094 0.00001
NM_000135.4(FANCA):c.4338T>C (p.Ala1446=) rs746256466 0.00001
NM_000135.4(FANCA):c.441C>T (p.Ser147=) rs772133367 0.00001
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly) rs770716257 0.00001
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu) rs908258968 0.00001
NM_000135.4(FANCA):c.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.486C>T (p.Ser162=) rs2040845636 0.00001
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) rs747651383 0.00001
NM_000135.4(FANCA):c.488G>A (p.Arg163His) rs375648811 0.00001
NM_000135.4(FANCA):c.499T>C (p.Cys167Arg) rs1449541412 0.00001
NM_000135.4(FANCA):c.522+1G>T rs1365019056 0.00001
NM_000135.4(FANCA):c.522+8T>A rs764367299 0.00001
NM_000135.4(FANCA):c.523-20T>C rs773036631 0.00001
NM_000135.4(FANCA):c.546G>A (p.Val182=) rs766417293 0.00001
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys) rs758528624 0.00001
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp) rs1300733063 0.00001
NM_000135.4(FANCA):c.561A>T (p.Val187=) rs1050053060 0.00001
NM_000135.4(FANCA):c.563A>G (p.Gln188Arg) rs763736133 0.00001
NM_000135.4(FANCA):c.571G>T (p.Val191Leu) rs1429483489 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164 0.00001
NM_000135.4(FANCA):c.589C>T (p.Leu197=) rs755202969 0.00001
NM_000135.4(FANCA):c.591G>A (p.Leu197=) rs1567650751 0.00001
NM_000135.4(FANCA):c.596+5C>T rs758345423 0.00001
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr) rs764157478 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000135.4(FANCA):c.603C>T (p.Pro201=) rs542064386 0.00001
NM_000135.4(FANCA):c.606C>T (p.Asp202=) rs1431969235 0.00001
NM_000135.4(FANCA):c.60G>A (p.Arg20=) rs1321607523 0.00001
NM_000135.4(FANCA):c.610C>G (p.His204Asp) rs749380996 0.00001
NM_000135.4(FANCA):c.612T>C (p.His204=) rs1226994862 0.00001
NM_000135.4(FANCA):c.630C>T (p.Leu210=) rs781089592 0.00001
NM_000135.4(FANCA):c.642G>C (p.Leu214=) rs751215437 0.00001
NM_000135.4(FANCA):c.660G>C (p.Gln220His) rs1555571174 0.00001
NM_000135.4(FANCA):c.675C>T (p.Cys225=) rs367717307 0.00001
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu) rs1598177148 0.00001
NM_000135.4(FANCA):c.684T>C (p.Ala228=) rs1354391809 0.00001
NM_000135.4(FANCA):c.687C>T (p.Asp229=) rs1598177104 0.00001
NM_000135.4(FANCA):c.693C>T (p.Ala231=) rs779839381 0.00001
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487 0.00001
NM_000135.4(FANCA):c.69C>T (p.Ala23=) rs746429608 0.00001
NM_000135.4(FANCA):c.700A>G (p.Met234Val) rs1042676101 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.710-8T>C rs181310336 0.00001
NM_000135.4(FANCA):c.769G>A (p.Val257Met) rs777311234 0.00001
NM_000135.4(FANCA):c.79+18G>C rs1214190329 0.00001
NM_000135.4(FANCA):c.79+1G>A rs1483028018 0.00001
NM_000135.4(FANCA):c.79+8G>T rs1210341859 0.00001
NM_000135.4(FANCA):c.792+15C>G rs199866285 0.00001
NM_000135.4(FANCA):c.793-11T>C rs1030329914 0.00001
NM_000135.4(FANCA):c.793-12C>G rs746312984 0.00001
NM_000135.4(FANCA):c.793-15A>G rs772612378 0.00001
NM_000135.4(FANCA):c.793-3C>G rs749688050 0.00001
NM_000135.4(FANCA):c.797C>T (p.Thr266Met) rs752799441 0.00001
NM_000135.4(FANCA):c.7G>C (p.Asp3His) rs1246636933 0.00001
NM_000135.4(FANCA):c.80-4G>T rs747881254 0.00001
NM_000135.4(FANCA):c.80-8C>T rs749080227 0.00001
NM_000135.4(FANCA):c.807A>C (p.Val269=) rs766352671 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.827-16C>G rs758496205 0.00001
NM_000135.4(FANCA):c.827-17C>G rs1483669797 0.00001
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr) rs1010833101 0.00001
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.876C>G (p.His292Gln) rs527897404 0.00001
NM_000135.4(FANCA):c.882C>G (p.Ile294Met) rs754520622 0.00001
NM_000135.4(FANCA):c.891C>T (p.Cys297=) rs1210939756 0.00001
NM_000135.4(FANCA):c.893+9C>T rs1313828842 0.00001
NM_000135.4(FANCA):c.894-10G>A rs751912856 0.00001
NM_000135.4(FANCA):c.894-20T>C rs1475016373 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.894-9C>T rs376093765 0.00001
NM_000135.4(FANCA):c.8A>C (p.Asp3Ala) rs1183087111 0.00001
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) rs1060501877 0.00001
NM_000135.4(FANCA):c.90C>G (p.Val30=) rs532713581 0.00001
NM_000135.4(FANCA):c.911G>C (p.Gly304Ala) rs745451374 0.00001
NM_000135.4(FANCA):c.913C>T (p.His305Tyr) rs774054025 0.00001
NM_000135.4(FANCA):c.917C>T (p.Thr306Met) rs370852532 0.00001
NM_000135.4(FANCA):c.927T>C (p.Ser309=) rs780226614 0.00001
NM_000135.4(FANCA):c.92A>G (p.Lys31Arg) rs2041101472 0.00001
NM_000135.4(FANCA):c.969C>G (p.Thr323=) rs747408661 0.00001
NM_000135.4(FANCA):c.96G>A (p.Arg32=) rs1381349863 0.00001
NM_000135.4(FANCA):c.982C>G (p.Leu328Val) rs779244841 0.00001
NM_000135.4(FANCA):c.990C>T (p.His330=) rs1413024545 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.*1045C>T rs537983135 0.00001
NM_000136.3(FANCC):c.*143A>G rs189154697 0.00001
NM_000136.3(FANCC):c.*1516A>G rs541816451 0.00001
NM_000136.3(FANCC):c.*1976C>T rs752733985 0.00001
NM_000136.3(FANCC):c.*2128C>T rs567507884 0.00001
NM_000136.3(FANCC):c.*2402G>C rs1354689137 0.00001
NM_000136.3(FANCC):c.*2528A>G rs1057515696 0.00001
NM_000136.3(FANCC):c.*576C>T rs1057515701 0.00001
NM_000136.3(FANCC):c.-12G>A rs779454514 0.00001
NM_000136.3(FANCC):c.-13C>T rs1057521107 0.00001
NM_000136.3(FANCC):c.-2A>G rs773045474 0.00001
NM_000136.3(FANCC):c.-48G>A rs1283535718 0.00001
NM_000136.3(FANCC):c.-61C>G rs1048489323 0.00001
NM_000136.3(FANCC):c.-64G>C rs1343004289 0.00001
NM_000136.3(FANCC):c.-71G>A rs1296685064 0.00001
NM_000136.3(FANCC):c.-76T>G rs1304078154 0.00001
NM_000136.3(FANCC):c.-79+1G>A rs1228886763 0.00001
NM_000136.3(FANCC):c.-87G>A rs1051113986 0.00001
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln) rs377468919 0.00001
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys) rs746828156 0.00001
NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala) rs1228873579 0.00001
NM_000136.3(FANCC):c.1035T>G (p.Ser345=) rs1057522277 0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser) rs143212932 0.00001
NM_000136.3(FANCC):c.1063G>C (p.Asp355His) rs587778325 0.00001
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071 0.00001
NM_000136.3(FANCC):c.1072+14G>C rs763466918 0.00001
NM_000136.3(FANCC):c.1073-8A>G rs1256220248 0.00001
NM_000136.3(FANCC):c.1079C>T (p.Pro360Leu) rs730881721 0.00001
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln) rs761336987 0.00001
NM_000136.3(FANCC):c.108_109dup (p.His37fs) rs1057517131 0.00001
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg) rs771694972 0.00001
NM_000136.3(FANCC):c.109C>G (p.His37Asp) rs864622230 0.00001
NM_000136.3(FANCC):c.112G>A (p.Val38Met) rs778951584 0.00001
NM_000136.3(FANCC):c.1146G>C (p.Gln382His) rs770809637 0.00001
NM_000136.3(FANCC):c.1150C>T (p.His384Tyr) rs1383057170 0.00001
NM_000136.3(FANCC):c.1151A>G (p.His384Arg) rs577302082 0.00001
NM_000136.3(FANCC):c.1152T>C (p.His384=) rs748127093 0.00001
NM_000136.3(FANCC):c.1155-16T>G rs1202931082 0.00001
NM_000136.3(FANCC):c.1155-29A>G rs759352163 0.00001
NM_000136.3(FANCC):c.1179C>T (p.Ser393=) rs1328914149 0.00001
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg) rs730881722 0.00001
NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser) rs1284061457 0.00001
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser) rs1588047887 0.00001
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys) rs369684405 0.00001
NM_000136.3(FANCC):c.1298G>A (p.Arg433His) rs768676102 0.00001
NM_000136.3(FANCC):c.1305G>C (p.Gly435=) rs765092951 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 0.00001
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg) rs912537449 0.00001
NM_000136.3(FANCC):c.1327A>G (p.Met443Val) rs150941781 0.00001
NM_000136.3(FANCC):c.1329+1G>T rs1554829441 0.00001
NM_000136.3(FANCC):c.1330-4C>G rs762141353 0.00001
NM_000136.3(FANCC):c.1330-9A>G rs1264460608 0.00001
NM_000136.3(FANCC):c.1344C>T (p.Ala448=) rs760983825 0.00001
NM_000136.3(FANCC):c.1350G>A (p.Leu450=) rs892063660 0.00001
NM_000136.3(FANCC):c.1351G>A (p.Gly451Ser) rs141805918 0.00001
NM_000136.3(FANCC):c.1355A>G (p.His452Arg) rs1224625808 0.00001
NM_000136.3(FANCC):c.1358T>A (p.Leu453His) rs1490551416 0.00001
NM_000136.3(FANCC):c.1365A>C (p.Ala455=) rs1463739066 0.00001
NM_000136.3(FANCC):c.1366A>G (p.Met456Val) rs1554828443 0.00001
NM_000136.3(FANCC):c.1379G>A (p.Ser460Asn) rs748938789 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.1437C>T (p.Leu479=) rs765396609 0.00001
NM_000136.3(FANCC):c.143T>C (p.Met48Thr) rs1353498563 0.00001
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775 0.00001
NM_000136.3(FANCC):c.1488C>G (p.Leu496=) rs1057520505 0.00001
NM_000136.3(FANCC):c.1508C>T (p.Thr503Met) rs779982610 0.00001
NM_000136.3(FANCC):c.1512C>T (p.Ile504=) rs746940880 0.00001
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr) rs780179187 0.00001
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.1534-10C>T rs1356632872 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.1534-20C>T rs1564635514 0.00001
NM_000136.3(FANCC):c.1540C>T (p.His514Tyr) rs749319183 0.00001
NM_000136.3(FANCC):c.1562A>C (p.Glu521Ala) rs781445050 0.00001
NM_000136.3(FANCC):c.1567A>G (p.Ile523Val) rs1235875394 0.00001
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr) rs1554827151 0.00001
NM_000136.3(FANCC):c.1570G>A (p.Gly524Ser) rs755289392 0.00001
NM_000136.3(FANCC):c.1587C>T (p.Thr529=) rs1015147630 0.00001
NM_000136.3(FANCC):c.1588T>C (p.Leu530=) rs988780618 0.00001
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=) rs758842354 0.00001
NM_000136.3(FANCC):c.1594A>C (p.Arg532=) rs764649916 0.00001
NM_000136.3(FANCC):c.15A>G (p.Ser5=) rs778408360 0.00001
NM_000136.3(FANCC):c.160G>A (p.Glu54Lys) rs1564794487 0.00001
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu) rs1554827120 0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477 0.00001
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu) rs1064793496 0.00001
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582 0.00001
NM_000136.3(FANCC):c.165+10G>A rs767721720 0.00001
NM_000136.3(FANCC):c.165+12A>G rs200547296 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.166-4_166-1dup rs746016938 0.00001
NM_000136.3(FANCC):c.166-5C>T rs753820400 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.1660C>T (p.Leu554=) rs769743634 0.00001
NM_000136.3(FANCC):c.1664G>A (p.Arg555Gln) rs369636116 0.00001
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile) rs149566909 0.00001
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln) rs150174412 0.00001
NM_000136.3(FANCC):c.216A>G (p.Ala72=) rs1057523069 0.00001
NM_000136.3(FANCC):c.238A>G (p.Ile80Val) rs1064793110 0.00001
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr) rs4647419 0.00001
NM_000136.3(FANCC):c.250+18G>A rs751544011 0.00001
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln) rs1060502519 0.00001
NM_000136.3(FANCC):c.271A>G (p.Ile91Val) rs771619614 0.00001
NM_000136.3(FANCC):c.278G>A (p.Cys93Tyr) rs774029807 0.00001
NM_000136.3(FANCC):c.290T>C (p.Leu97Pro) rs1223097554 0.00001
NM_000136.3(FANCC):c.291A>G (p.Leu97=) rs1216348860 0.00001
NM_000136.3(FANCC):c.321A>G (p.Gln107=) rs1441770870 0.00001
NM_000136.3(FANCC):c.327A>G (p.Lys109=) rs1399574459 0.00001
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro) rs777731560 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.345+1G>A rs1175257797 0.00001
NM_000136.3(FANCC):c.345G>A (p.Gln115=) rs1031713372 0.00001
NM_000136.3(FANCC):c.346-12T>C rs769706832 0.00001
NM_000136.3(FANCC):c.346-8T>C rs747950159 0.00001
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp) rs1282106098 0.00001
NM_000136.3(FANCC):c.364C>T (p.Leu122Phe) rs1064796148 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe) rs587779906 0.00001
NM_000136.3(FANCC):c.407A>C (p.Gln136Pro) rs1180924540 0.00001
NM_000136.3(FANCC):c.436_438del (p.Tyr146del) rs761347179 0.00001
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) rs730881711 0.00001
NM_000136.3(FANCC):c.456+8T>C rs761639538 0.00001
NM_000136.3(FANCC):c.457-9G>A rs762529432 0.00001
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) rs1831179586 0.00001
NM_000136.3(FANCC):c.468A>G (p.Ser156=) rs148616725 0.00001
NM_000136.3(FANCC):c.46A>G (p.Met16Val) rs1390412870 0.00001
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro) rs372338418 0.00001
NM_000136.3(FANCC):c.474G>A (p.Ala158=) rs768342908 0.00001
NM_000136.3(FANCC):c.476C>T (p.Ser159Phe) rs1588218581 0.00001
NM_000136.3(FANCC):c.501T>C (p.Asn167=) rs1057520284 0.00001
NM_000136.3(FANCC):c.510C>T (p.Asn170=) rs777734585 0.00001
NM_000136.3(FANCC):c.521+10_521+13del rs1372625836 0.00001
NM_000136.3(FANCC):c.521+5G>C rs1301899973 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.526G>C (p.Ala176Pro) rs767389988 0.00001
NM_000136.3(FANCC):c.530C>T (p.Pro177Leu) rs1208450171 0.00001
NM_000136.3(FANCC):c.532G>A (p.Glu178Lys) rs554302947 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln) rs538875706 0.00001
NM_000136.3(FANCC):c.542C>T (p.Ala181Val) rs182879858 0.00001
NM_000136.3(FANCC):c.543G>A (p.Ala181=) rs758919360 0.00001
NM_000136.3(FANCC):c.551C>T (p.Ser184Leu) rs746367952 0.00001
NM_000136.3(FANCC):c.571A>C (p.Ile191Leu) rs752429169 0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 0.00001
NM_000136.3(FANCC):c.576C>T (p.Thr192=) rs759392396 0.00001
NM_000136.3(FANCC):c.583G>C (p.Asp195His) rs774140528 0.00001
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys) rs373270404 0.00001
NM_000136.3(FANCC):c.635A>G (p.Gln212Arg) rs1445499474 0.00001
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu) rs730881714 0.00001
NM_000136.3(FANCC):c.656T>A (p.Phe219Tyr) rs1588181383 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.678C>T (p.Ala226=) rs775845203 0.00001
NM_000136.3(FANCC):c.679A>G (p.Ile227Val) rs864622550 0.00001
NM_000136.3(FANCC):c.686+8G>A rs1312864289 0.00001
NM_000136.3(FANCC):c.687-15A>C rs765327075 0.00001
NM_000136.3(FANCC):c.690G>A (p.Lys230=) rs199744457 0.00001
NM_000136.3(FANCC):c.693G>A (p.Lys231=) rs955961811 0.00001
NM_000136.3(FANCC):c.706A>G (p.Met236Val) rs771319430 0.00001
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) rs1554835099 0.00001
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr) rs1165230596 0.00001
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717 0.00001
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser) rs730881718 0.00001
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu) rs745621828 0.00001
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) rs757190154 0.00001
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615 0.00001
NM_000136.3(FANCC):c.843+9del rs1827516873 0.00001
NM_000136.3(FANCC):c.844-14T>C rs759280421 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000136.3(FANCC):c.851C>T (p.Ala284Val) rs201281511 0.00001
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu) rs769649289 0.00001
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln) rs747060782 0.00001
NM_000136.3(FANCC):c.882T>C (p.Val294=) rs750639831 0.00001
NM_000136.3(FANCC):c.896+11C>G rs1012591196 0.00001
NM_000136.3(FANCC):c.897-10C>T rs955495354 0.00001
NM_000136.3(FANCC):c.897-3C>T rs1057521714 0.00001
NM_000136.3(FANCC):c.897G>T (p.Arg299Ser) rs759083348 0.00001
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro) rs1415268424 0.00001
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn) rs772992002 0.00001
NM_000136.3(FANCC):c.916_917del (p.Asp306fs) rs779806106 0.00001
NM_000136.3(FANCC):c.917A>T (p.Asp306Val) rs1383010376 0.00001
NM_000136.3(FANCC):c.924C>G (p.Ala308=) rs864622225 0.00001
NM_000136.3(FANCC):c.943A>G (p.Ile315Val) rs587779910 0.00001
NM_000136.3(FANCC):c.950T>G (p.Val317Gly) rs1438781491 0.00001
NM_000136.3(FANCC):c.956C>T (p.Thr319Met) rs745910444 0.00001
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647 0.00001
NM_000136.3(FANCC):c.996+17A>G rs767279490 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.996+6T>C rs200934877 0.00001
NM_000136.3(FANCC):c.996+9dup rs781108327 0.00001
NM_000136.3(FANCC):c.997-12A>G rs1368651985 0.00001
NM_000136.3(FANCC):c.997-6T>C rs1057524604 0.00001
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) rs864622191 0.00001
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000175.5(GPI):c.1498G>A (p.Val500Ile) rs552424309 0.00001
NM_000175.5(GPI):c.14C>T (p.Thr5Ile) rs267606852 0.00001
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584 0.00001
NM_000175.5(GPI):c.1618G>A (p.Ala540Thr) rs547475819 0.00001
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu) rs933668811 0.00001
NM_000175.5(GPI):c.301G>A (p.Val101Met) rs757341382 0.00001
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551 0.00001
NM_000175.5(GPI):c.640A>G (p.Thr214Ala) rs536683131 0.00001
NM_000175.5(GPI):c.880G>A (p.Glu294Lys) rs560277140 0.00001
NM_000184.2(HBG2):c.-228T>C rs63750654 0.00001
NM_000186.4(CFH):c.*14G>A rs463726 0.00001
NM_000186.4(CFH):c.100A>T (p.Thr34Ser) rs1389897706 0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) rs1450633243 0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val) rs892717090 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His) rs778051521 0.00001
NM_000186.4(CFH):c.1697-3A>C rs778174105 0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) rs144696019 0.00001
NM_000186.4(CFH):c.1745G>A (p.Arg582His) rs138890387 0.00001
NM_000186.4(CFH):c.1864A>G (p.Ile622Val) rs990484984 0.00001
NM_000186.4(CFH):c.1934C>T (p.Thr645Met) rs749232210 0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met) rs573295841 0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) rs763441589 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn) rs374704701 0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) rs753331225 0.00001
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg) rs886045746 0.00001
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu) rs1408179720 0.00001
NM_000186.4(CFH):c.2784C>A (p.Gly928=) rs755926856 0.00001
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) rs149938052 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) rs1366929531 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu) rs1408795010 0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) rs771435716 0.00001
NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter) rs121913060 0.00001
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp) rs761877050 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys) rs1573087364 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) rs139360826 0.00001
NM_000186.4(CFH):c.727T>C (p.Tyr243His) rs748692496 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000186.4(CFH):c.879G>A (p.Gln293=) rs769615121 0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser) rs764573258 0.00001
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser) rs398122379 0.00001
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys) rs1172702857 0.00001
NM_000188.3(HK1):c.2519C>T (p.Ala840Val) rs373871387 0.00001
NM_000188.3(HK1):c.281G>A (p.Arg94Gln) rs1176654400 0.00001
NM_000193.4(SHH):c.86G>C (p.Gly29Ala) rs1313527438 0.00001
NM_000253.4(MTTP):c.-205G>A rs886058953 0.00001
NM_000254.3(MTR):c.1071G>A (p.Leu357=) rs771474135 0.00001
NM_000254.3(MTR):c.1074T>C (p.Ser358=) rs1430063160 0.00001
NM_000254.3(MTR):c.1076-16T>C rs1363188046 0.00001
NM_000254.3(MTR):c.108G>A (p.Gly36=) rs1057523951 0.00001
NM_000254.3(MTR):c.127C>T (p.Arg43Trp) rs757720946 0.00001
NM_000254.3(MTR):c.1311C>T (p.Ser437=) rs777192214 0.00001
NM_000254.3(MTR):c.1329+15A>G rs752303010 0.00001
NM_000254.3(MTR):c.1425G>A (p.Lys475=) rs1464958347 0.00001
NM_000254.3(MTR):c.1483A>G (p.Met495Val) rs775291294 0.00001
NM_000254.3(MTR):c.1566G>C (p.Leu522=) rs779536088 0.00001
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala) rs1663831931 0.00001
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp) rs151031178 0.00001
NM_000254.3(MTR):c.1657T>C (p.Tyr553His) rs767156705 0.00001
NM_000254.3(MTR):c.1695+15G>A rs750838511 0.00001
NM_000254.3(MTR):c.1743C>T (p.Ser581=) rs758784869 0.00001
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) rs121913580 0.00001
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_000254.3(MTR):c.181A>C (p.Arg61=) rs886046217 0.00001
NM_000254.3(MTR):c.1954-6A>G rs1553321372 0.00001
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys) rs150058137 0.00001
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) rs759130222 0.00001
NM_000254.3(MTR):c.2101del (p.Tyr701fs) rs762727293 0.00001
NM_000254.3(MTR):c.2294T>C (p.Val765Ala) rs931972359 0.00001
NM_000254.3(MTR):c.2304+4A>G rs778478523 0.00001
NM_000254.3(MTR):c.2329C>G (p.Leu777Val) rs758778075 0.00001
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr) rs147387989 0.00001
NM_000254.3(MTR):c.2422G>A (p.Val808Ile) rs745749921 0.00001
NM_000254.3(MTR):c.2446C>T (p.Leu816=) rs1458770538 0.00001
NM_000254.3(MTR):c.2454T>C (p.Ala818=) rs769066955 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_000254.3(MTR):c.2594+3A>G rs757969059 0.00001
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly) rs149165917 0.00001
NM_000254.3(MTR):c.2763T>C (p.Tyr921=) rs989945025 0.00001
NM_000254.3(MTR):c.2775+19T>C rs1416410897 0.00001
NM_000254.3(MTR):c.2776-16C>T rs770223976 0.00001
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys) rs1416094227 0.00001
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys) rs773190246 0.00001
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu) rs772400119 0.00001
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg) rs755595867 0.00001
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr) rs1474412109 0.00001
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr) rs756706737 0.00001
NM_000254.3(MTR):c.3205-196A>G rs544410324 0.00001
NM_000254.3(MTR):c.325G>A (p.Gly109Ser) rs746836137 0.00001
NM_000254.3(MTR):c.3281G>A (p.Arg1094His) rs764803333 0.00001
NM_000254.3(MTR):c.3315T>C (p.Phe1105=) rs1221565565 0.00001
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val) rs759436870 0.00001
NM_000254.3(MTR):c.34+10C>T rs376679817 0.00001
NM_000254.3(MTR):c.34+13C>A rs370004550 0.00001
NM_000254.3(MTR):c.340-166A>G rs1661117141 0.00001
NM_000254.3(MTR):c.340-3T>C rs772591750 0.00001
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly) rs781725496 0.00001
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter) rs201718371 0.00001
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser) rs1188027807 0.00001
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly) rs369154176 0.00001
NM_000254.3(MTR):c.347G>A (p.Arg116Gln) rs1414249194 0.00001
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys) rs761657622 0.00001
NM_000254.3(MTR):c.3516C>T (p.Arg1172=) rs750050502 0.00001
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg) rs779312137 0.00001
NM_000254.3(MTR):c.443C>T (p.Pro148Leu) rs757429726 0.00001
NM_000254.3(MTR):c.444G>A (p.Pro148=) rs778868012 0.00001
NM_000254.3(MTR):c.586A>G (p.Ile196Val) rs776426879 0.00001
NM_000254.3(MTR):c.669+11A>C rs773271317 0.00001
NM_000254.3(MTR):c.712G>A (p.Gly238Arg) rs934470002 0.00001
NM_000254.3(MTR):c.755A>G (p.Glu252Gly) rs758776466 0.00001
NM_000289.6(PFKM):c.*532A>G rs927525907 0.00001
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075 0.00001
NM_000289.6(PFKM):c.1014C>G (p.Leu338=) rs745952414 0.00001
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629 0.00001
NM_000289.6(PFKM):c.103A>C (p.Arg35=) rs1057522048 0.00001
NM_000289.6(PFKM):c.1041C>T (p.Pro347=) rs1350163599 0.00001
NM_000289.6(PFKM):c.1104C>T (p.Asp368=) rs151045985 0.00001
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1149G>A (p.Glu383=) rs765367927 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1192-16G>A rs756542348 0.00001
NM_000289.6(PFKM):c.1192-4A>G rs1320880960 0.00001
NM_000289.6(PFKM):c.1192-7T>C rs1445315219 0.00001
NM_000289.6(PFKM):c.123T>C (p.Gly41=) rs756442663 0.00001
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454 0.00001
NM_000289.6(PFKM):c.1260C>T (p.Arg420=) rs756454146 0.00001
NM_000289.6(PFKM):c.1275T>C (p.Ile425=) rs1592789738 0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) rs41291965 0.00001
NM_000289.6(PFKM):c.129C>T (p.Phe43=) rs1181855702 0.00001
NM_000289.6(PFKM):c.132C>T (p.Thr44=) rs780240624 0.00001
NM_000289.6(PFKM):c.1374C>G (p.Gly458=) rs765683112 0.00001
NM_000289.6(PFKM):c.138C>T (p.Ala46=) rs1413157674 0.00001
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) rs554664722 0.00001
NM_000289.6(PFKM):c.1412+6T>C rs1417385697 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1455A>C (p.Ile485=) rs1404730324 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys) rs1487607332 0.00001
NM_000289.6(PFKM):c.159+10G>A rs772752063 0.00001
NM_000289.6(PFKM):c.1599C>T (p.Val533=) rs1308260209 0.00001
NM_000289.6(PFKM):c.160-11G>C rs770427697 0.00001
NM_000289.6(PFKM):c.1617C>T (p.Ser539=) rs371605516 0.00001
NM_000289.6(PFKM):c.1653+10T>C rs1355868874 0.00001
NM_000289.6(PFKM):c.1761A>G (p.Ala587=) rs1950696961 0.00001
NM_000289.6(PFKM):c.1818+10C>T rs774040508 0.00001
NM_000289.6(PFKM):c.1857T>C (p.Thr619=) rs762229855 0.00001
NM_000289.6(PFKM):c.1908C>T (p.Thr636=) rs748755500 0.00001
NM_000289.6(PFKM):c.1980T>A (p.Gly660=) rs1180149962 0.00001
NM_000289.6(PFKM):c.1993-6C>T rs1258118168 0.00001
NM_000289.6(PFKM):c.2034G>A (p.Lys678=) rs1426948180 0.00001
NM_000289.6(PFKM):c.2093-9T>G rs1425536614 0.00001
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln) rs770276917 0.00001
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr) rs373055147 0.00001
NM_000289.6(PFKM):c.216C>T (p.Ser72=) rs760812841 0.00001
NM_000289.6(PFKM):c.2199-4G>A rs1195176028 0.00001
NM_000289.6(PFKM):c.222G>A (p.Ser74=) rs754074132 0.00001
NM_000289.6(PFKM):c.2292T>C (p.His764=) rs765145687 0.00001
NM_000289.6(PFKM):c.2325C>T (p.Ser775=) rs780497709 0.00001
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile) rs537327893 0.00001
NM_000289.6(PFKM):c.237+10A>G rs753085406 0.00001
NM_000289.6(PFKM):c.238-9C>T rs1410090927 0.00001
NM_000289.6(PFKM):c.276T>C (p.Phe92=) rs1479575063 0.00001
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg) rs768553877 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000289.6(PFKM):c.318G>A (p.Val106=) rs775680284 0.00001
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg) rs763214745 0.00001
NM_000289.6(PFKM):c.333C>T (p.Thr111=) rs767919774 0.00001
NM_000289.6(PFKM):c.36G>A (p.Leu12=) rs765868040 0.00001
NM_000289.6(PFKM):c.375T>C (p.Ala125=) rs748925843 0.00001
NM_000289.6(PFKM):c.384C>T (p.Phe128=) rs771979702 0.00001
NM_000289.6(PFKM):c.393G>A (p.Glu131=) rs1949678398 0.00001
NM_000289.6(PFKM):c.428-5G>A rs530415874 0.00001
NM_000289.6(PFKM):c.477G>T (p.Val159=) rs1409128392 0.00001
NM_000289.6(PFKM):c.483G>A (p.Leu161=) rs199856938 0.00001
NM_000289.6(PFKM):c.546G>A (p.Leu182=) rs779095033 0.00001
NM_000289.6(PFKM):c.570T>C (p.Asp190=) rs761133325 0.00001
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg) rs755956424 0.00001
NM_000289.6(PFKM):c.638+20C>T rs901548166 0.00001
NM_000289.6(PFKM):c.66C>G (p.Thr22=) rs995717911 0.00001
NM_000289.6(PFKM):c.675C>T (p.Ala225=) rs1368560997 0.00001
NM_000289.6(PFKM):c.711C>T (p.Asp237=) rs768094970 0.00001
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr) rs748720104 0.00001
NM_000289.6(PFKM):c.825C>T (p.Thr275=) rs1173987256 0.00001
NM_000289.6(PFKM):c.844-4T>C rs1366950106 0.00001
NM_000289.6(PFKM):c.844-8C>T rs1422456826 0.00001
NM_000289.6(PFKM):c.864A>G (p.Gly288=) rs1313998695 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_000289.6(PFKM):c.927C>T (p.Asp309=) rs752179477 0.00001
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro) rs1251670627 0.00001
NM_000289.6(PFKM):c.936+1G>A rs1949974650 0.00001
NM_000289.6(PFKM):c.965T>C (p.Met322Thr) rs1225653591 0.00001
NM_000289.6(PFKM):c.987A>T (p.Pro329=) rs932393961 0.00001
NM_000289.6(PFKM):c.993C>G (p.Thr331=) rs754716303 0.00001
NM_000298.6(PKLR):c.*275C>T rs886045350 0.00001
NM_000298.6(PKLR):c.-31G>A rs778164541 0.00001
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu) rs763466930 0.00001
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) rs74315362 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu) rs779817999 0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000298.6(PKLR):c.1291G>A (p.Ala431Thr) rs762591322 0.00001
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter) rs771145576 0.00001
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln) rs768210809 0.00001
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp) rs201255024 0.00001
NM_000298.6(PKLR):c.307del (p.Arg103fs) rs1433205059 0.00001
NM_000324.3(RHAG):c.1067+1G>A rs1562012617 0.00001
NM_000324.3(RHAG):c.3G>T (p.Met1Ile) rs121918588 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp) rs121912741 0.00001
NM_000342.4(SLC4A1):c.*1832G>A rs886052988 0.00001
NM_000342.4(SLC4A1):c.*356G>C rs1046413791 0.00001
NM_000342.4(SLC4A1):c.*5C>T rs748428663 0.00001
NM_000342.4(SLC4A1):c.*624G>A rs988105334 0.00001
NM_000342.4(SLC4A1):c.-65C>A rs886053001 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) rs201821517 0.00001
NM_000342.4(SLC4A1):c.1431+13T>G rs747632229 0.00001
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys) rs1398477044 0.00001
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met) rs757478694 0.00001
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser) rs751771382 0.00001
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744 0.00001
NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe) rs763988041 0.00001
NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=) rs200107906 0.00001
NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met) rs775748758 0.00001
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val) rs886052997 0.00001
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala) rs766885976 0.00001
NM_000342.4(SLC4A1):c.2482-9C>T rs886052995 0.00001
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His) rs781396793 0.00001
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) rs747337202 0.00001
NM_000342.4(SLC4A1):c.567C>G (p.Leu189=) rs746103796 0.00001
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) rs886053000 0.00001
NM_000342.4(SLC4A1):c.695-3C>A rs772264078 0.00001
NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn) rs138288425 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.1062C>T (p.Thr354=) rs770733287 0.00001
NM_000355.4(TCN2):c.1084G>C (p.Ala362Pro) rs1237571997 0.00001
NM_000355.4(TCN2):c.1086C>G (p.Ala362=) rs553587653 0.00001
NM_000355.4(TCN2):c.1099G>T (p.Gly367Ter) rs1057520098 0.00001
NM_000355.4(TCN2):c.109C>T (p.His37Tyr) rs1326813642 0.00001
NM_000355.4(TCN2):c.1106+1G>A rs766478911 0.00001
NM_000355.4(TCN2):c.1107-4G>A rs1485846164 0.00001
NM_000355.4(TCN2):c.1141T>G (p.Leu381Val) rs2087720823 0.00001
NM_000355.4(TCN2):c.1150G>A (p.Val384Met) rs144166182 0.00001
NM_000355.4(TCN2):c.1163C>T (p.Ala388Val) rs774428161 0.00001
NM_000355.4(TCN2):c.1167C>T (p.Ala389=) rs369722707 0.00001
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg) rs367605153 0.00001
NM_000355.4(TCN2):c.1205A>G (p.Asn402Ser) rs749591278 0.00001
NM_000355.4(TCN2):c.1225A>G (p.Ile409Val) rs371229602 0.00001
NM_000355.4(TCN2):c.1230T>C (p.Ala410=) rs1391122960 0.00001
NM_000355.4(TCN2):c.1233C>T (p.Asp411=) rs931753951 0.00001
NM_000355.4(TCN2):c.131G>A (p.Arg44Gln) rs770055978 0.00001
NM_000355.4(TCN2):c.174A>G (p.Leu58=) rs764601482 0.00001
NM_000355.4(TCN2):c.257+8C>T rs747963904 0.00001
NM_000355.4(TCN2):c.270C>T (p.Ser90=) rs775251694 0.00001
NM_000355.4(TCN2):c.274G>A (p.Asp92Asn) rs528704555 0.00001
NM_000355.4(TCN2):c.330C>T (p.Leu110=) rs528481728 0.00001
NM_000355.4(TCN2):c.421G>A (p.Ala141Thr) rs762973293 0.00001
NM_000355.4(TCN2):c.425T>C (p.Ile142Thr) rs200483369 0.00001
NM_000355.4(TCN2):c.427+13C>T rs753858269 0.00001
NM_000355.4(TCN2):c.427+15T>C rs764862389 0.00001
NM_000355.4(TCN2):c.428-7C>T rs778810764 0.00001
NM_000355.4(TCN2):c.428-8C>T rs1412501560 0.00001
NM_000355.4(TCN2):c.430C>T (p.His144Tyr) rs747296848 0.00001
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377 0.00001
NM_000355.4(TCN2):c.465C>T (p.Tyr155=) rs1484880205 0.00001
NM_000355.4(TCN2):c.490C>T (p.Leu164=) rs754253807 0.00001
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn) rs773855163 0.00001
NM_000355.4(TCN2):c.553C>A (p.Pro185Thr) rs759922664 0.00001
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp) rs777945731 0.00001
NM_000355.4(TCN2):c.567C>T (p.Gly189=) rs143343408 0.00001
NM_000355.4(TCN2):c.612C>T (p.Thr204=) rs1237569304 0.00001
NM_000355.4(TCN2):c.65-6T>A rs1602043415 0.00001
NM_000355.4(TCN2):c.660C>G (p.Thr220=) rs2087597240 0.00001
NM_000355.4(TCN2):c.708C>T (p.Pro236=) rs762630641 0.00001
NM_000355.4(TCN2):c.721G>A (p.Gly241Arg) rs1273929738 0.00001
NM_000355.4(TCN2):c.735C>T (p.Ser245=) rs755751120 0.00001
NM_000355.4(TCN2):c.753+19del rs767328402 0.00001
NM_000355.4(TCN2):c.766T>G (p.Ser256Ala) rs752978666 0.00001
NM_000355.4(TCN2):c.87T>C (p.His29=) rs1365708322 0.00001
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile) rs763836785 0.00001
NM_000355.4(TCN2):c.915C>T (p.Ile305=) rs911038185 0.00001
NM_000355.4(TCN2):c.918C>T (p.Phe306=) rs567457027 0.00001
NM_000355.4(TCN2):c.924C>T (p.Asp308=) rs1376577981 0.00001
NM_000355.4(TCN2):c.931G>A (p.Ala311Thr) rs2087605207 0.00001
NM_000355.4(TCN2):c.99G>A (p.Lys33=) rs1485632884 0.00001
NM_000365.6(TPI1):c.*239C>T rs886049811 0.00001
NM_000365.6(TPI1):c.*69C>T rs782061169 0.00001
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr) rs121964848 0.00001
NM_000365.6(TPI1):c.1A>G (p.Met1Val) rs201432576 0.00001
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln) rs1565538350 0.00001
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser) rs781891192 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_000375.3(UROS):c.*56T>C rs1436191296 0.00001
NM_000375.3(UROS):c.*92T>G rs887568142 0.00001
NM_000375.3(UROS):c.-203T>C rs1554891988 0.00001
NM_000375.3(UROS):c.-26-193C>A rs397515350 0.00001
NM_000375.3(UROS):c.-27+10G>A rs376517536 0.00001
NM_000375.3(UROS):c.169G>A (p.Gly57Arg) rs200322717 0.00001
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) rs28941775 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_000375.3(UROS):c.327A>C (p.Lys109Asn) rs369561042 0.00001
NM_000375.3(UROS):c.53C>T (p.Pro18Leu) rs766540245 0.00001
NM_000375.3(UROS):c.7G>T (p.Val3Phe) rs773301339 0.00001
NM_000384.3(APOB):c.*207C>A rs886055566 0.00001
NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter) rs759934326 0.00001
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105 0.00001
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852 0.00001
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573 0.00001
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572 0.00001
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571 0.00001
NM_000384.3(APOB):c.4216+4A>G rs886055588 0.00001
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386 0.00001
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390 0.00001
NM_000398.7(CYB5R3):c.190C>G (p.Leu64Val) rs777361441 0.00001
NM_000398.7(CYB5R3):c.547+1G>A rs1161477501 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter) rs763259379 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu) rs754251915 0.00001
NM_000402.4(G6PD):c.1451G>A (p.Arg484His) rs137852324 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) rs137852343 0.00001
NM_000476.3(AK1):c.118G>A (p.Gly40Arg) rs137853204 0.00001
NM_000476.3(AK1):c.190G>A (p.Gly64Arg) rs137853205 0.00001
NM_000476.3(AK1):c.90G>T (p.Gln30His) rs141933637 0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.5(HBB):c.*104G>A rs1564873881 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.*18C>A rs1348310843 0.00001
NM_000518.5(HBB):c.*53C>A rs886048393 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.-136C>T rs33994806 0.00001
NM_000518.5(HBB):c.-15C>A rs193922550 0.00001
NM_000518.5(HBB):c.-4C>T rs1035531758 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.309C>A (p.Asn103Lys) rs34227486 0.00001
NM_000518.5(HBB):c.316-184T>C rs193922557 0.00001
NM_000518.5(HBB):c.316-238C>T rs558554234 0.00001
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751 0.00001
NM_000518.5(HBB):c.384G>C (p.Gln128His) rs1437278962 0.00001
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_000518.5(HBB):c.60C>T (p.Asn20=) rs63750840 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000519.4(HBD):c.97C>T (p.Leu33=) rs746437742 0.00001
NM_000559.2(HBG1):c.-167C>T rs281860601 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_000619.3(IFNG):c.*231T>C rs1413472447 0.00001
NM_000619.3(IFNG):c.-34T>G rs752463155 0.00001
NM_000619.3(IFNG):c.431C>T (p.Ser144Leu) rs753611452 0.00001
NM_000637.5(GSR):c.307G>A (p.Val103Met) rs745404470 0.00001
NM_000637.5(GSR):c.993G>A (p.Trp331Ter) rs1345036090 0.00001
NM_000969.5(RPL5):c.18T>A (p.Val6=) rs768965548 0.00001
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596 0.00001
NM_000969.5(RPL5):c.204T>A (p.Arg68=) rs1031900489 0.00001
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr) rs752867126 0.00001
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn) rs1043234543 0.00001
NM_000969.5(RPL5):c.266A>G (p.Lys89Arg) rs1314815534 0.00001
NM_000969.5(RPL5):c.307C>T (p.Leu103=) rs574546327 0.00001
NM_000969.5(RPL5):c.309G>T (p.Leu103=) rs760490644 0.00001
NM_000969.5(RPL5):c.381T>A (p.Gly127=) rs1251386648 0.00001
NM_000969.5(RPL5):c.384T>C (p.Asp128=) rs749814264 0.00001
NM_000969.5(RPL5):c.4-4T>C rs746944177 0.00001
NM_000969.5(RPL5):c.435T>C (p.Tyr145=) rs188046229 0.00001
NM_000969.5(RPL5):c.527+10C>T rs779348774 0.00001
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln) rs771013653 0.00001
NM_000969.5(RPL5):c.589A>G (p.Lys197Glu) rs776644546 0.00001
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys) rs770095159 0.00001
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp) rs764296257 0.00001
NM_000969.5(RPL5):c.657C>T (p.Tyr219=) rs1481353859 0.00001
NM_000969.5(RPL5):c.666G>C (p.Gln222His) rs767163981 0.00001
NM_000969.5(RPL5):c.795-9C>A rs748765097 0.00001
NM_000969.5(RPL5):c.803G>A (p.Arg268His) rs765443248 0.00001
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112 0.00001
NM_000975.5(RPL11):c.23A>G (p.Lys8Arg) rs760498453 0.00001
NM_000975.5(RPL11):c.24G>A (p.Lys8=) rs143617222 0.00001
NM_000975.5(RPL11):c.264+9A>T rs777041270 0.00001
NM_000975.5(RPL11):c.287A>G (p.Lys96Arg) rs369949969 0.00001
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309 0.00001
NM_000975.5(RPL11):c.454G>A (p.Gly152Arg) rs766991539 0.00001
NM_000975.5(RPL11):c.5C>T (p.Ala2Val) rs768850297 0.00001
NM_000975.5(RPL11):c.72C>T (p.Ile24=) rs781675016 0.00001
NM_000981.4(RPL19):c.93A>G (p.Glu31=) rs377198587 0.00001
NM_000987.5(RPL26):c.24T>C (p.Thr8=) rs750540417 0.00001
NM_000987.5(RPL26):c.255G>A (p.Val85=) rs758125897 0.00001
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147 0.00001
NM_000987.5(RPL26):c.97C>T (p.Pro33Ser) rs747386536 0.00001
NM_000996.4(RPL35A):c.-31C>T rs766043927 0.00001
NM_000996.4(RPL35A):c.101A>T (p.Tyr34Phe) rs773889184 0.00001
NM_000996.4(RPL35A):c.11+11T>C rs766619628 0.00001
NM_000996.4(RPL35A):c.11+17T>C rs780298603 0.00001
NM_000996.4(RPL35A):c.113A>G (p.Glu38Gly) rs1401148284 0.00001
NM_000996.4(RPL35A):c.12-13T>A rs778146996 0.00001
NM_000996.4(RPL35A):c.141C>T (p.Cys47=) rs1440792535 0.00001
NM_000996.4(RPL35A):c.253C>G (p.Arg85Gly) rs773689278 0.00001
NM_000996.4(RPL35A):c.270C>T (p.Ser90=) rs772084930 0.00001
NM_000996.4(RPL35A):c.28A>G (p.Ile10Val) rs553548757 0.00001
NM_000996.4(RPL35A):c.35C>T (p.Ala12Val) rs780895868 0.00001
NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp) rs1349665099 0.00001
NM_000996.4(RPL35A):c.57G>A (p.Arg19=) rs769775044 0.00001
NM_000996.4(RPL35A):c.59A>G (p.Asn20Ser) rs1283030430 0.00001
NM_001002010.5(NT5C3A):c.166C>T (p.Arg56Ter) rs753346459 0.00001
NM_001002010.5(NT5C3A):c.631C>T (p.Gln211Ter) rs104894026 0.00001
NM_001002010.5(NT5C3A):c.671A>G (p.Asn224Ser) rs104894028 0.00001
NM_001002010.5(NT5C3A):c.844_845dup (p.Val283fs) rs397518436 0.00001
NM_001002019.2(PUS1):c.-149G>C rs1033621386 0.00001
NM_001011.4(RPS7):c.-13C>T rs765604580 0.00001
NM_001011.4(RPS7):c.126G>A (p.Glu42=) rs777387773 0.00001
NM_001011.4(RPS7):c.137C>T (p.Thr46Met) rs1006838420 0.00001
NM_001011.4(RPS7):c.301C>T (p.Leu101=) rs1001502341 0.00001
NM_001011.4(RPS7):c.356+3G>A rs1161877660 0.00001
NM_001011.4(RPS7):c.378C>T (p.His126=) rs764498089 0.00001
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516 0.00001
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys) rs200400906 0.00001
NM_001011.4(RPS7):c.436G>A (p.Val146Ile) rs367770078 0.00001
NM_001011.4(RPS7):c.452G>T (p.Ser151Ile) rs1461848852 0.00001
NM_001011.4(RPS7):c.462A>T (p.Ile154=) rs1478289413 0.00001
NM_001011.4(RPS7):c.525T>G (p.Gly175=) rs1392470365 0.00001
NM_001011.4(RPS7):c.580T>C (p.Leu194=) rs1480952113 0.00001
NM_001011.4(RPS7):c.66C>T (p.Gly22=) rs773617808 0.00001
NM_001011.4(RPS7):c.77C>T (p.Ala26Val) rs939123022 0.00001
NM_001014.5(RPS10):c.164G>A (p.Arg55Gln) rs1765898082 0.00001
NM_001014.5(RPS10):c.186T>C (p.Phe62=) rs753811128 0.00001
NM_001014.5(RPS10):c.189C>T (p.Ala63=) rs772715124 0.00001
NM_001014.5(RPS10):c.312T>A (p.Pro104=) rs775998609 0.00001
NM_001014.5(RPS10):c.322+15C>G rs770954930 0.00001
NM_001014.5(RPS10):c.322+16A>G rs747142176 0.00001
NM_001014.5(RPS10):c.323-4A>G rs200083898 0.00001
NM_001014.5(RPS10):c.360G>A (p.Gly120=) rs763715001 0.00001
NM_001014.5(RPS10):c.401-17G>A rs753421531 0.00001
NM_001014.5(RPS10):c.40C>T (p.Leu14Phe) rs1426463647 0.00001
NM_001014.5(RPS10):c.425C>T (p.Ala142Val) rs1765648018 0.00001
NM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly) rs1422244944 0.00001
NM_001018113.3(FANCB):c.111T>C (p.Pro37=) rs1172968993 0.00001
NM_001018113.3(FANCB):c.1120T>C (p.Cys374Arg) rs781251036 0.00001
NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile) rs2092465105 0.00001
NM_001018113.3(FANCB):c.1149A>G (p.Lys383=) rs751649474 0.00001
NM_001018113.3(FANCB):c.1160G>A (p.Arg387His) rs757202355 0.00001
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) rs764156696 0.00001
NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp) rs750569208 0.00001
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) rs753030842 0.00001
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805 0.00001
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668 0.00001
NM_001018113.3(FANCB):c.1314A>C (p.Ser438=) rs2092408394 0.00001
NM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr) rs1313938907 0.00001
NM_001018113.3(FANCB):c.1327-1G>A rs1295003944 0.00001
NM_001018113.3(FANCB):c.1342C>A (p.Pro448Thr) rs867778700 0.00001
NM_001018113.3(FANCB):c.1441C>T (p.Arg481Cys) rs2092396737 0.00001
NM_001018113.3(FANCB):c.1496T>C (p.Leu499Pro) rs935080919 0.00001
NM_001018113.3(FANCB):c.1552T>A (p.Phe518Ile) rs373632536 0.00001
NM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln) rs1379342414 0.00001
NM_001018113.3(FANCB):c.1582A>G (p.Ile528Val) rs749342600 0.00001
NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser) rs773313492 0.00001
NM_001018113.3(FANCB):c.1610C>T (p.Ala537Val) rs752804063 0.00001
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=) rs767952529 0.00001
NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val) rs1336185048 0.00001
NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp) rs773221142 0.00001
NM_001018113.3(FANCB):c.1736C>T (p.Thr579Ile) rs771950360 0.00001
NM_001018113.3(FANCB):c.1746A>G (p.Thr582=) rs1228686996 0.00001
NM_001018113.3(FANCB):c.1755A>G (p.Ser585=) rs745472535 0.00001
NM_001018113.3(FANCB):c.1763T>C (p.Leu588Ser) rs1298952108 0.00001
NM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp) rs1317998053 0.00001
NM_001018113.3(FANCB):c.17C>A (p.Ala6Glu) rs780032769 0.00001
NM_001018113.3(FANCB):c.183C>T (p.Ser61=) rs1317100453 0.00001
NM_001018113.3(FANCB):c.1894T>G (p.Tyr632Asp) rs149387792 0.00001
NM_001018113.3(FANCB):c.18A>G (p.Ala6=) rs2092465606 0.00001
NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu) rs776713934 0.00001
NM_001018113.3(FANCB):c.1924A>G (p.Ile642Val) rs370765798 0.00001
NM_001018113.3(FANCB):c.1928-20G>T rs780575945 0.00001
NM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr) rs1220308530 0.00001
NM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr) rs1440633578 0.00001
NM_001018113.3(FANCB):c.2015T>C (p.Met672Thr) rs377268147 0.00001
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn) rs1416043928 0.00001
NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu) rs1232355920 0.00001
NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile) rs1278850689 0.00001
NM_001018113.3(FANCB):c.2144G>T (p.Gly715Val) rs1389308960 0.00001
NM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys) rs758926056 0.00001
NM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala) rs765112491 0.00001
NM_001018113.3(FANCB):c.2218A>G (p.Ile740Val) rs746453967 0.00001
NM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu) rs767721906 0.00001
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270 0.00001
NM_001018113.3(FANCB):c.2379A>G (p.Gly793=) rs1374912480 0.00001
NM_001018113.3(FANCB):c.2391C>T (p.Val797=) rs778731279 0.00001
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) rs1020168794 0.00001
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile) rs995483698 0.00001
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu) rs767194178 0.00001
NM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys) rs1247789556 0.00001
NM_001018113.3(FANCB):c.2563A>G (p.Lys855Glu) rs773885877 0.00001
NM_001018113.3(FANCB):c.318A>G (p.Glu106=) rs1215227353 0.00001
NM_001018113.3(FANCB):c.341G>A (p.Ser114Asn) rs1254494594 0.00001
NM_001018113.3(FANCB):c.361C>T (p.Arg121Cys) rs145928137 0.00001
NM_001018113.3(FANCB):c.440T>C (p.Val147Ala) rs757074045 0.00001
NM_001018113.3(FANCB):c.521G>A (p.Gly174Glu) rs1316359856 0.00001
NM_001018113.3(FANCB):c.526A>T (p.Ile176Phe) rs1208436363 0.00001
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) rs996732250 0.00001
NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr) rs1366041068 0.00001
NM_001018113.3(FANCB):c.609A>C (p.Ser203=) rs1206454126 0.00001
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) rs747819351 0.00001
NM_001018113.3(FANCB):c.662A>G (p.Glu221Gly) rs1265222877 0.00001
NM_001018113.3(FANCB):c.667T>C (p.Leu223=) rs1308832555 0.00001
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) rs374217132 0.00001
NM_001018113.3(FANCB):c.814A>G (p.Thr272Ala) rs769701122 0.00001
NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu) rs1270593506 0.00001
NM_001018113.3(FANCB):c.897C>T (p.Phe299=) rs753443421 0.00001
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe) rs757610875 0.00001
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val) rs754238911 0.00001
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808 0.00001
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val) rs1242186487 0.00001
NM_001018113.3(FANCB):c.939A>G (p.Lys313=) rs767512088 0.00001
NM_001018113.3(FANCB):c.959C>A (p.Ala320Asp) rs1246382467 0.00001
NM_001018115.3(FANCD2):c.1047A>G (p.Val349=) rs761258624 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1132A>G (p.Lys378Glu) rs1171804978 0.00001
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr) rs148255762 0.00001
NM_001018115.3(FANCD2):c.1250T>C (p.Leu417Pro) rs1369011648 0.00001
NM_001018115.3(FANCD2):c.1278+6T>C rs779894573 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.1310C>T (p.Ser437Leu) rs1349417700 0.00001
NM_001018115.3(FANCD2):c.1311G>A (p.Ser437=) rs564577177 0.00001
NM_001018115.3(FANCD2):c.1325T>G (p.Leu442Trp) rs1400034764 0.00001
NM_001018115.3(FANCD2):c.1343A>G (p.Gln448Arg) rs777539464 0.00001
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile) rs780374375 0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) rs1181436417 0.00001
NM_001018115.3(FANCD2):c.1371A>T (p.Leu457=) rs1364599822 0.00001
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met) rs760246372 0.00001
NM_001018115.3(FANCD2):c.1414-4A>G rs781613701 0.00001
NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile) rs761454597 0.00001
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr) rs1312307141 0.00001
NM_001018115.3(FANCD2):c.1516G>A (p.Ala506Thr) rs767699213 0.00001
NM_001018115.3(FANCD2):c.1519A>G (p.Met507Val) rs376708399 0.00001
NM_001018115.3(FANCD2):c.1546-7T>A rs548887691 0.00001
NM_001018115.3(FANCD2):c.1589G>A (p.Arg530Gln) rs1249790407 0.00001
NM_001018115.3(FANCD2):c.1671G>A (p.Leu557=) rs746726118 0.00001
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=) rs769844392 0.00001
NM_001018115.3(FANCD2):c.1699G>A (p.Val567Ile) rs773483393 0.00001
NM_001018115.3(FANCD2):c.1758G>A (p.Ala586=) rs370284275 0.00001
NM_001018115.3(FANCD2):c.1767-7T>C rs756066137 0.00001
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=) rs1447943740 0.00001
NM_001018115.3(FANCD2):c.1835C>T (p.Ser612Phe) rs760516842 0.00001
NM_001018115.3(FANCD2):c.1864G>A (p.Glu622Lys) rs375951862 0.00001
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) rs770231582 0.00001
NM_001018115.3(FANCD2):c.1903T>C (p.Phe635Leu) rs1179966779 0.00001
NM_001018115.3(FANCD2):c.1912C>G (p.Leu638Val) rs760324486 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001018115.3(FANCD2):c.1993G>A (p.Val665Ile) rs774405864 0.00001
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=) rs138189144 0.00001
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=) rs552206789 0.00001
NM_001018115.3(FANCD2):c.2085T>C (p.Ile695=) rs760296624 0.00001
NM_001018115.3(FANCD2):c.2170T>G (p.Leu724Val) rs201243424 0.00001
NM_001018115.3(FANCD2):c.2175G>A (p.Val725=) rs776116877 0.00001
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser) rs911843298 0.00001
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp) rs752621186 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg) rs2087692676 0.00001
NM_001018115.3(FANCD2):c.2265A>G (p.Leu755=) rs376828609 0.00001
NM_001018115.3(FANCD2):c.2269+3A>G rs1246708998 0.00001
NM_001018115.3(FANCD2):c.2270A>G (p.Asp757Gly) rs779060030 0.00001
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe) rs1398046806 0.00001
NM_001018115.3(FANCD2):c.2366C>T (p.Thr789Ile) rs1263342232 0.00001
NM_001018115.3(FANCD2):c.2376G>C (p.Trp792Cys) rs752013429 0.00001
NM_001018115.3(FANCD2):c.2386-15A>G rs542904509 0.00001
NM_001018115.3(FANCD2):c.2420A>T (p.Glu807Val) rs1305213202 0.00001
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn) rs769811062 0.00001
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=) rs574054963 0.00001
NM_001018115.3(FANCD2):c.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.2494+9A>G rs754665005 0.00001
NM_001018115.3(FANCD2):c.251G>A (p.Arg84Lys) rs375506300 0.00001
NM_001018115.3(FANCD2):c.2577A>G (p.Ser859=) rs772038476 0.00001
NM_001018115.3(FANCD2):c.2605+20C>G rs1429678820 0.00001
NM_001018115.3(FANCD2):c.2606-7A>G rs757102395 0.00001
NM_001018115.3(FANCD2):c.2632A>C (p.Lys878Gln) rs780018258 0.00001
NM_001018115.3(FANCD2):c.2715+20C>G rs199714316 0.00001
NM_001018115.3(FANCD2):c.2730G>T (p.Lys910Asn) rs369241246 0.00001
NM_001018115.3(FANCD2):c.2745_2747del (p.Leu918del) rs1232274352 0.00001
NM_001018115.3(FANCD2):c.2810A>G (p.His937Arg) rs746389067 0.00001
NM_001018115.3(FANCD2):c.2860-6T>A rs772531991 0.00001
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile) rs1480379325 0.00001
NM_001018115.3(FANCD2):c.2926C>A (p.Leu976Met) rs753809948 0.00001
NM_001018115.3(FANCD2):c.2976+5G>A rs748710535 0.00001
NM_001018115.3(FANCD2):c.2989C>T (p.Arg997Trp) rs587778330 0.00001
NM_001018115.3(FANCD2):c.2990G>A (p.Arg997Gln) rs587778331 0.00001
NM_001018115.3(FANCD2):c.3012C>G (p.Leu1004=) rs773625038 0.00001
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) rs552885346 0.00001
NM_001018115.3(FANCD2):c.3222T>C (p.Ala1074=) rs1238683323 0.00001
NM_001018115.3(FANCD2):c.3224+13G>C rs764386433 0.00001
NM_001018115.3(FANCD2):c.3224+8T>A rs1412513898 0.00001
NM_001018115.3(FANCD2):c.3225-13T>C rs996065278 0.00001
NM_001018115.3(FANCD2):c.3248A>G (p.Asn1083Ser) rs1180577651 0.00001
NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=) rs759252565 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.3313C>G (p.Gln1105Glu) rs1694168766 0.00001
NM_001018115.3(FANCD2):c.3347A>G (p.His1116Arg) rs548876750 0.00001
NM_001018115.3(FANCD2):c.3400C>T (p.Leu1134Phe) rs587778332 0.00001
NM_001018115.3(FANCD2):c.3416T>C (p.Met1139Thr) rs755205321 0.00001
NM_001018115.3(FANCD2):c.3418G>A (p.Val1140Ile) rs988476435 0.00001
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=) rs533541893 0.00001
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=) rs570459552 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3527A>G (p.Asn1176Ser) rs764205355 0.00001
NM_001018115.3(FANCD2):c.3543G>A (p.Gln1181=) rs138409505 0.00001
NM_001018115.3(FANCD2):c.3549T>C (p.His1183=) rs758749466 0.00001
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=) rs745765337 0.00001
NM_001018115.3(FANCD2):c.3561-4G>T rs1694400747 0.00001
NM_001018115.3(FANCD2):c.3607A>T (p.Ile1203Phe) rs373757862 0.00001
NM_001018115.3(FANCD2):c.3638A>G (p.Asn1213Ser) rs771903324 0.00001
NM_001018115.3(FANCD2):c.3639C>G (p.Asn1213Lys) rs780098296 0.00001
NM_001018115.3(FANCD2):c.3645T>A (p.Pro1215=) rs1168183069 0.00001
NM_001018115.3(FANCD2):c.3646A>G (p.Lys1216Glu) rs367552677 0.00001
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=) rs760054945 0.00001
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala) rs767806932 0.00001
NM_001018115.3(FANCD2):c.3751C>G (p.Pro1251Ala) rs568515612 0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) rs764507146 0.00001
NM_001018115.3(FANCD2):c.3770C>T (p.Ser1257Leu) rs374940277 0.00001
NM_001018115.3(FANCD2):c.3772C>G (p.Gln1258Glu) rs994778998 0.00001
NM_001018115.3(FANCD2):c.3775C>A (p.Gln1259Lys) rs1407465957 0.00001
NM_001018115.3(FANCD2):c.3777+1G>T rs1434069831 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys) rs772201181 0.00001
NM_001018115.3(FANCD2):c.3888+2T>G rs1419879344 0.00001
NM_001018115.3(FANCD2):c.38A>G (p.Lys13Arg) rs756078235 0.00001
NM_001018115.3(FANCD2):c.3963+11A>G rs945877549 0.00001
NM_001018115.3(FANCD2):c.3963+8C>T rs201623111 0.00001
NM_001018115.3(FANCD2):c.4047G>A (p.Gln1349=) rs370343891 0.00001
NM_001018115.3(FANCD2):c.4048G>A (p.Asp1350Asn) rs772169028 0.00001
NM_001018115.3(FANCD2):c.4056A>G (p.Arg1352=) rs1336906399 0.00001
NM_001018115.3(FANCD2):c.4133A>G (p.Asn1378Ser) rs1452379242 0.00001
NM_001018115.3(FANCD2):c.4137T>A (p.Asn1379Lys) rs752376206 0.00001
NM_001018115.3(FANCD2):c.4140T>C (p.Cys1380=) rs954149471 0.00001
NM_001018115.3(FANCD2):c.4163A>G (p.Asn1388Ser) rs745472884 0.00001
NM_001018115.3(FANCD2):c.4177G>A (p.Asp1393Asn) rs1273669064 0.00001
NM_001018115.3(FANCD2):c.4185+20A>G rs770768796 0.00001
NM_001018115.3(FANCD2):c.4189G>A (p.Glu1397Lys) rs753272541 0.00001
NM_001018115.3(FANCD2):c.4196T>C (p.Ile1399Thr) rs1369071910 0.00001
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp) rs61753270 0.00001
NM_001018115.3(FANCD2):c.4281+121C>T rs764865805 0.00001
NM_001018115.3(FANCD2):c.4281+179C>T rs370459744 0.00001
NM_001018115.3(FANCD2):c.4281+22_4281+29del rs878855172 0.00001
NM_001018115.3(FANCD2):c.4281+42C>T rs1415649585 0.00001
NM_001018115.3(FANCD2):c.4281+525A>G rs886057695 0.00001
NM_001018115.3(FANCD2):c.4281+562C>A rs550613588 0.00001
NM_001018115.3(FANCD2):c.4281+69G>A rs754606069 0.00001
NM_001018115.3(FANCD2):c.4281+71G>A rs568997706 0.00001
NM_001018115.3(FANCD2):c.4281+77C>T rs748421381 0.00001
NM_001018115.3(FANCD2):c.4281+91G>A rs771414227 0.00001
NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys) rs755911397 0.00001
NM_001018115.3(FANCD2):c.438+8T>G rs762114353 0.00001
NM_001018115.3(FANCD2):c.439-3T>C rs771998947 0.00001
NM_001018115.3(FANCD2):c.461T>C (p.Phe154Ser) rs200668378 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln) rs41291203 0.00001
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=) rs2086806957 0.00001
NM_001018115.3(FANCD2):c.586A>G (p.Ile196Val) rs779216164 0.00001
NM_001018115.3(FANCD2):c.58G>A (p.Ala20Thr) rs1338392055 0.00001
NM_001018115.3(FANCD2):c.65-3C>T rs1461324891 0.00001
NM_001018115.3(FANCD2):c.695+10C>T rs757359450 0.00001
NM_001018115.3(FANCD2):c.695+18C>T rs767119830 0.00001
NM_001018115.3(FANCD2):c.696-1G>A rs954555240 0.00001
NM_001018115.3(FANCD2):c.704T>C (p.Leu235Pro) rs760574880 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001018115.3(FANCD2):c.778T>C (p.Leu260=) rs756621826 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.784-9A>G rs1388537203 0.00001
NM_001018115.3(FANCD2):c.805A>C (p.Lys269Gln) rs747977469 0.00001
NM_001018115.3(FANCD2):c.812C>T (p.Ser271Leu) rs766821340 0.00001
NM_001018115.3(FANCD2):c.813G>A (p.Ser271=) rs773072936 0.00001
NM_001018115.3(FANCD2):c.828G>A (p.Glu276=) rs1246470195 0.00001
NM_001018115.3(FANCD2):c.888+8C>G rs201124351 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001018115.3(FANCD2):c.908A>G (p.Glu303Gly) rs367824549 0.00001
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu) rs183778817 0.00001
NM_001018115.3(FANCD2):c.989+9C>T rs2086907710 0.00001
NM_001022.3(RPS19):c.-139C>T rs886054467 0.00001
NM_001022.3(RPS19):c.-339T>C rs886054465 0.00001
NM_001022.4(RPS19):c.-1+14C>T rs886054469 0.00001
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg) rs1400674746 0.00001
NM_001022.4(RPS19):c.173-9T>C rs782552614 0.00001
NM_001022.4(RPS19):c.24C>T (p.Asp8=) rs782536520 0.00001
NM_001022.4(RPS19):c.259G>A (p.Val87Ile) rs782752734 0.00001
NM_001022.4(RPS19):c.356+12del rs781789110 0.00001
NM_001022.4(RPS19):c.357-6C>T rs529093944 0.00001
NM_001022.4(RPS19):c.393G>A (p.Leu131=) rs1447794153 0.00001
NM_001022.4(RPS19):c.405C>T (p.Ala135=) rs550819306 0.00001
NM_001022.4(RPS19):c.93C>G (p.Pro31=) rs1318520916 0.00001
NM_001029.5(RPS26):c.-80C>T rs886049687 0.00001
NM_001029.5(RPS26):c.266G>A (p.Arg89His) rs764673368 0.00001
NM_001029.5(RPS26):c.291C>T (p.Pro97=) rs766621663 0.00001
NM_001029.5(RPS26):c.3+14C>T rs763770729 0.00001
NM_001029.5(RPS26):c.3+20G>C rs759864837 0.00001
NM_001029.5(RPS26):c.3+6T>G rs748437026 0.00001
NM_001029.5(RPS26):c.315T>A (p.Gly105=) rs554297156 0.00001
NM_001029.5(RPS26):c.42C>T (p.Gly14=) rs771196681 0.00001
NM_001029.5(RPS26):c.69C>T (p.Cys23=) rs986563758 0.00001
NM_001029.5(RPS26):c.81C>T (p.Ala27=) rs773982358 0.00001
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764 0.00001
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) rs376934259 0.00001
NM_001063.4(TF):c.1029G>A (p.Arg343=) rs762383370 0.00001
NM_001063.4(TF):c.1180G>A (p.Glu394Lys) rs121918680 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.229G>A (p.Asp77Asn) rs121918681 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.1000C>T (p.Gln334Ter) rs561240556 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.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly) rs760807440 0.00001
NM_001081.4(CUBN):c.10287G>A (p.Gln3429=) rs566428134 0.00001
NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233 0.00001
NM_001081.4(CUBN):c.10530A>T (p.Gly3510=) rs376007864 0.00001
NM_001081.4(CUBN):c.10678G>A (p.Asp3560Asn) rs768846551 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1111+12T>A rs772358097 0.00001
NM_001081.4(CUBN):c.1190A>G (p.Asn397Ser) rs140397272 0.00001
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys) rs563035840 0.00001
NM_001081.4(CUBN):c.1350C>T (p.Gly450=) rs770827241 0.00001
NM_001081.4(CUBN):c.1418-9C>A rs779016475 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.1531-8A>G rs776677485 0.00001
NM_001081.4(CUBN):c.1644T>C (p.Phe548=) rs559998744 0.00001
NM_001081.4(CUBN):c.164C>T (p.Thr55Met) rs774556167 0.00001
NM_001081.4(CUBN):c.1704C>G (p.Leu568=) rs752698463 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.1978C>A (p.Leu660Ile) rs1836092449 0.00001
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) rs751139014 0.00001
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln) rs770625165 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.2446+18T>C rs756171220 0.00001
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val) rs775423928 0.00001
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr) rs572470830 0.00001
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu) rs757185023 0.00001
NM_001081.4(CUBN):c.289G>A (p.Gly97Arg) rs763105241 0.00001
NM_001081.4(CUBN):c.2997A>G (p.Thr999=) rs762336429 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) rs778092585 0.00001
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560 0.00001
NM_001081.4(CUBN):c.3371A>G (p.Tyr1124Cys) rs763475348 0.00001
NM_001081.4(CUBN):c.3500G>T (p.Gly1167Val) rs773892336 0.00001
NM_001081.4(CUBN):c.3639G>A (p.Glu1213=) rs1479997421 0.00001
NM_001081.4(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169 0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp) rs773480436 0.00001
NM_001081.4(CUBN):c.3977A>C (p.Asp1326Ala) rs774933317 0.00001
NM_001081.4(CUBN):c.4018-14C>A rs376137878 0.00001
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser) rs386833787 0.00001
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=) rs138052938 0.00001
NM_001081.4(CUBN):c.4312G>T (p.Val1438Leu) rs764937978 0.00001
NM_001081.4(CUBN):c.4696-18C>G rs745926280 0.00001
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615 0.00001
NM_001081.4(CUBN):c.4856-1del rs750520309 0.00001
NM_001081.4(CUBN):c.4906C>T (p.Arg1636Trp) rs551594427 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=) rs577984421 0.00001
NM_001081.4(CUBN):c.5021C>T (p.Thr1674Met) rs747701083 0.00001
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=) rs886046874 0.00001
NM_001081.4(CUBN):c.5083C>T (p.Arg1695Cys) rs770776726 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn) rs146438022 0.00001
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=) rs754694753 0.00001
NM_001081.4(CUBN):c.5470G>A (p.Val1824Ile) rs776108051 0.00001
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu) rs200277745 0.00001
NM_001081.4(CUBN):c.5556C>T (p.Gly1852=) rs1459051392 0.00001
NM_001081.4(CUBN):c.5709A>G (p.Gln1903=) rs1305422200 0.00001
NM_001081.4(CUBN):c.5716T>C (p.Tyr1906His) rs186721969 0.00001
NM_001081.4(CUBN):c.5744G>C (p.Gly1915Ala) rs1483369204 0.00001
NM_001081.4(CUBN):c.5757C>T (p.His1919=) rs79184887 0.00001
NM_001081.4(CUBN):c.5851A>G (p.Ile1951Val) rs1379361226 0.00001
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=) rs560009723 0.00001
NM_001081.4(CUBN):c.6048C>T (p.Thr2016=) rs770723197 0.00001
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val) rs567146793 0.00001
NM_001081.4(CUBN):c.6366C>A (p.Val2122=) rs774532398 0.00001
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289 0.00001
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=) rs757609735 0.00001
NM_001081.4(CUBN):c.6821+20A>G rs753314241 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913 0.00001
NM_001081.4(CUBN):c.6991T>C (p.Tyr2331His) rs767769110 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001081.4(CUBN):c.704G>C (p.Arg235Pro) rs752992672 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.720+12C>A rs888514621 0.00001
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274 0.00001
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr) rs761577575 0.00001
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val) rs565917798 0.00001
NM_001081.4(CUBN):c.7390A>C (p.Thr2464Pro) rs769747844 0.00001
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=) rs748416223 0.00001
NM_001081.4(CUBN):c.7568T>C (p.Leu2523Pro) rs145347743 0.00001
NM_001081.4(CUBN):c.7587T>C (p.Ser2529=) rs1199891308 0.00001
NM_001081.4(CUBN):c.7625C>A (p.Thr2542Lys) rs1841590875 0.00001
NM_001081.4(CUBN):c.7802G>A (p.Trp2601Ter) rs1841554531 0.00001
NM_001081.4(CUBN):c.795C>T (p.Asp265=) rs777864127 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.83T>C (p.Leu28Pro) rs1054077052 0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter) rs759203841 0.00001
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072 0.00001
NM_001081.4(CUBN):c.8565C>T (p.Ser2855=) rs201227730 0.00001
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser) rs371139445 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.8720C>A (p.Ala2907Glu) rs758557930 0.00001
NM_001081.4(CUBN):c.8739C>T (p.Ser2913=) rs140586269 0.00001
NM_001081.4(CUBN):c.8749G>A (p.Val2917Ile) rs142248018 0.00001
NM_001081.4(CUBN):c.8881A>T (p.Thr2961Ser) rs774440223 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.9060C>T (p.Asn3020=) rs377526677 0.00001
NM_001081.4(CUBN):c.9208G>A (p.Val3070Ile) rs144314567 0.00001
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=) rs976401499 0.00001
NM_001081.4(CUBN):c.9237-10C>T rs768128551 0.00001
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=) rs754292924 0.00001
NM_001081.4(CUBN):c.9433A>G (p.Met3145Val) rs367575656 0.00001
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser) rs750045664 0.00001
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=) rs559567467 0.00001
NM_001081.4(CUBN):c.9816C>T (p.Thr3272=) rs750580951 0.00001
NM_001081.4(CUBN):c.9841A>T (p.Thr3281Ser) rs570241713 0.00001
NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp) rs746365230 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg) rs957245579 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg) rs578092914 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr) rs776657932 0.00001
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser) rs776571416 0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) rs202217604 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_001083116.3(PRF1):c.83G>A (p.Arg28His) rs1230053761 0.00001
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys) rs902124045 0.00001
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_001113378.2(FANCI):c.-23G>A rs886051506 0.00001
NM_001113378.2(FANCI):c.-72C>G rs886051505 0.00001
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) rs72762644 0.00001
NM_001113378.2(FANCI):c.1026A>G (p.Gln342=) rs752386484 0.00001
NM_001113378.2(FANCI):c.1038C>T (p.Gly346=) rs1465922906 0.00001
NM_001113378.2(FANCI):c.1039T>C (p.Ser347Pro) rs1289791231 0.00001
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser) rs565007212 0.00001
NM_001113378.2(FANCI):c.1138C>G (p.Gln380Glu) rs748470270 0.00001
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala) rs1012254525 0.00001
NM_001113378.2(FANCI):c.1185A>C (p.Pro395=) rs371838837 0.00001
NM_001113378.2(FANCI):c.1212T>C (p.Ile404=) rs749893514 0.00001
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile) rs1390853875 0.00001
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=) rs772846275 0.00001
NM_001113378.2(FANCI):c.1386G>A (p.Leu462=) rs1427057962 0.00001
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val) rs200186938 0.00001
NM_001113378.2(FANCI):c.1406A>G (p.Tyr469Cys) rs756206080 0.00001
NM_001113378.2(FANCI):c.1411C>G (p.Pro471Ala) rs1287849752 0.00001
NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile) rs746777753 0.00001
NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly) rs775192850 0.00001
NM_001113378.2(FANCI):c.1477C>T (p.Leu493Phe) rs2053603881 0.00001
NM_001113378.2(FANCI):c.1479T>G (p.Leu493=) rs775006497 0.00001
NM_001113378.2(FANCI):c.1510C>A (p.Gln504Lys) rs554471987 0.00001
NM_001113378.2(FANCI):c.1513-13G>C rs1451472127 0.00001
NM_001113378.2(FANCI):c.1514C>T (p.Pro505Leu) rs773105092 0.00001
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe) rs762294213 0.00001
NM_001113378.2(FANCI):c.1557T>C (p.Leu519=) rs138767485 0.00001
NM_001113378.2(FANCI):c.157+78G>A rs963339667 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.1680G>A (p.Gln560=) rs1181466139 0.00001
NM_001113378.2(FANCI):c.1698+11T>C rs1349464743 0.00001
NM_001113378.2(FANCI):c.1698+6G>T rs762886638 0.00001
NM_001113378.2(FANCI):c.16T>G (p.Leu6Val) rs748018574 0.00001
NM_001113378.2(FANCI):c.1787G>A (p.Ser596Asn) rs754190768 0.00001
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln) rs201641791 0.00001
NM_001113378.2(FANCI):c.1821+5G>A rs769718753 0.00001
NM_001113378.2(FANCI):c.1821+9G>A rs1596292257 0.00001
NM_001113378.2(FANCI):c.1824G>A (p.Gly608=) rs777877618 0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001113378.2(FANCI):c.18A>G (p.Leu6=) rs1344119716 0.00001
NM_001113378.2(FANCI):c.1956G>C (p.Leu652=) rs770437879 0.00001
NM_001113378.2(FANCI):c.1976C>T (p.Ser659Phe) rs776139524 0.00001
NM_001113378.2(FANCI):c.1993-7C>G rs773420007 0.00001
NM_001113378.2(FANCI):c.1A>G (p.Met1Val) rs781249928 0.00001
NM_001113378.2(FANCI):c.2017C>T (p.His673Tyr) rs763866498 0.00001
NM_001113378.2(FANCI):c.2033A>G (p.Tyr678Cys) rs916935359 0.00001
NM_001113378.2(FANCI):c.2051C>T (p.Pro684Leu) rs779276973 0.00001
NM_001113378.2(FANCI):c.2057A>G (p.Gln686Arg) rs772393046 0.00001
NM_001113378.2(FANCI):c.2063G>A (p.Gly688Glu) rs778157971 0.00001
NM_001113378.2(FANCI):c.2098G>A (p.Glu700Lys) rs199615501 0.00001
NM_001113378.2(FANCI):c.2114T>C (p.Ile705Thr) rs760554629 0.00001
NM_001113378.2(FANCI):c.2131A>T (p.Asn711Tyr) rs766073258 0.00001
NM_001113378.2(FANCI):c.2169+12G>A rs886051512 0.00001
NM_001113378.2(FANCI):c.2169+8C>G rs534051118 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile) rs757610698 0.00001
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr) rs911033971 0.00001
NM_001113378.2(FANCI):c.2212A>G (p.Lys738Glu) rs1423332049 0.00001
NM_001113378.2(FANCI):c.2224T>C (p.Cys742Arg) rs770611634 0.00001
NM_001113378.2(FANCI):c.228G>A (p.Val76=) rs1296744474 0.00001
NM_001113378.2(FANCI):c.2292-6T>C rs772352819 0.00001
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451 0.00001
NM_001113378.2(FANCI):c.2341C>A (p.Leu781Ile) rs560692029 0.00001
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu) rs1421332670 0.00001
NM_001113378.2(FANCI):c.2393A>G (p.Asn798Ser) rs548409550 0.00001
NM_001113378.2(FANCI):c.2421G>A (p.Met807Ile) rs1282555629 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001113378.2(FANCI):c.243G>T (p.Leu81Phe) rs765418977 0.00001
NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp) rs879531765 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.2520C>G (p.Arg840=) rs1210098933 0.00001
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His) rs777269384 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp) rs1361710673 0.00001
NM_001113378.2(FANCI):c.2577G>C (p.Val859=) rs562877308 0.00001
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu) rs199758631 0.00001
NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr) rs770499988 0.00001
NM_001113378.2(FANCI):c.2602G>C (p.Glu868Gln) rs1384613419 0.00001
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419 0.00001
NM_001113378.2(FANCI):c.2617A>G (p.Asn873Asp) rs764167093 0.00001
NM_001113378.2(FANCI):c.2623T>C (p.Cys875Arg) rs1309949902 0.00001
NM_001113378.2(FANCI):c.2636+3A>G rs2054202681 0.00001
NM_001113378.2(FANCI):c.2636+4A>G rs1211300732 0.00001
NM_001113378.2(FANCI):c.2636G>A (p.Arg879Gln) rs1488657979 0.00001
NM_001113378.2(FANCI):c.2649G>C (p.Trp883Cys) rs776067081 0.00001
NM_001113378.2(FANCI):c.2673A>T (p.Ser891=) rs1567170286 0.00001
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu) rs762647324 0.00001
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) rs751233975 0.00001
NM_001113378.2(FANCI):c.2721G>A (p.Leu907=) rs369902896 0.00001
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val) rs748546731 0.00001
NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter) rs1303324683 0.00001
NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu) rs773438545 0.00001
NM_001113378.2(FANCI):c.2813A>G (p.Asp938Gly) rs1060501898 0.00001
NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp) rs1184165155 0.00001
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile) rs767462150 0.00001
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln) rs151267266 0.00001
NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln) rs776851666 0.00001
NM_001113378.2(FANCI):c.288+13A>T rs748684931 0.00001
NM_001113378.2(FANCI):c.288+15_288+16insGT rs770691019 0.00001
NM_001113378.2(FANCI):c.290C>T (p.Ala97Val) rs1555442676 0.00001
NM_001113378.2(FANCI):c.2918A>G (p.Gln973Arg) rs780663944 0.00001
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr) rs886051507 0.00001
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr) rs1194951081 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg) rs150387641 0.00001
NM_001113378.2(FANCI):c.3058+10C>G rs1375877085 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 0.00001
NM_001113378.2(FANCI):c.3059-17T>A rs778641563 0.00001
NM_001113378.2(FANCI):c.3069G>A (p.Leu1023=) rs777093571 0.00001
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val) rs1343059856 0.00001
NM_001113378.2(FANCI):c.3139C>T (p.Arg1047Cys) rs1429500240 0.00001
NM_001113378.2(FANCI):c.3186+7_3186+8insG rs762412096 0.00001
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg) rs763822728 0.00001
NM_001113378.2(FANCI):c.3210C>T (p.Asn1070=) rs1331419585 0.00001
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=) rs767103109 0.00001
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513 0.00001
NM_001113378.2(FANCI):c.3252C>T (p.Val1084=) rs1270769440 0.00001
NM_001113378.2(FANCI):c.3255+8T>C rs200754997 0.00001
NM_001113378.2(FANCI):c.3255+9T>A rs1596324771 0.00001
NM_001113378.2(FANCI):c.3256-9T>C rs1464839356 0.00001
NM_001113378.2(FANCI):c.3273G>A (p.Gln1091=) rs147496890 0.00001
NM_001113378.2(FANCI):c.329A>G (p.Asn110Ser) rs368987143 0.00001
NM_001113378.2(FANCI):c.3327A>T (p.Gln1109His) rs1388053700 0.00001
NM_001113378.2(FANCI):c.3350-11T>C rs779052518 0.00001
NM_001113378.2(FANCI):c.3377C>G (p.Pro1126Arg) rs78234788 0.00001
NM_001113378.2(FANCI):c.3379A>G (p.Asn1127Asp) rs878854179 0.00001
NM_001113378.2(FANCI):c.33A>G (p.Glu11=) rs878854180 0.00001
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val) rs377630829 0.00001
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile) rs772071601 0.00001
NM_001113378.2(FANCI):c.3435C>G (p.Phe1145Leu) rs1344945720 0.00001
NM_001113378.2(FANCI):c.3439G>A (p.Glu1147Lys) rs947003968 0.00001
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg) rs1043718711 0.00001
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val) rs368451326 0.00001
NM_001113378.2(FANCI):c.3505A>G (p.Met1169Val) rs757606290 0.00001
NM_001113378.2(FANCI):c.3505A>T (p.Met1169Leu) rs757606290 0.00001
NM_001113378.2(FANCI):c.3515C>T (p.Thr1172Ile) rs552222011 0.00001
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg) rs757106031 0.00001
NM_001113378.2(FANCI):c.3538-10T>C rs1415270918 0.00001
NM_001113378.2(FANCI):c.3561C>T (p.Ser1187=) rs748619003 0.00001
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg) rs772739034 0.00001
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val) rs149763090 0.00001
NM_001113378.2(FANCI):c.3592-16C>T rs754610218 0.00001
NM_001113378.2(FANCI):c.3592-9G>A rs200021557 0.00001
NM_001113378.2(FANCI):c.3594G>A (p.Val1198=) rs986193169 0.00001
NM_001113378.2(FANCI):c.3619C>G (p.Pro1207Ala) rs759758760 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro) rs373184027 0.00001
NM_001113378.2(FANCI):c.3652-14T>G rs372032678 0.00001
NM_001113378.2(FANCI):c.3652-6C>G rs752433847 0.00001
NM_001113378.2(FANCI):c.3652-9T>C rs971308997 0.00001
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) rs757964620 0.00001
NM_001113378.2(FANCI):c.3665G>A (p.Ser1222Asn) rs746232111 0.00001
NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr) rs780218001 0.00001
NM_001113378.2(FANCI):c.3674A>G (p.Tyr1225Cys) rs1351957141 0.00001
NM_001113378.2(FANCI):c.3675T>C (p.Tyr1225=) rs768895822 0.00001
NM_001113378.2(FANCI):c.3678G>A (p.Thr1226=) rs748187517 0.00001
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro) rs751025656 0.00001
NM_001113378.2(FANCI):c.3721-1G>C rs1173483373 0.00001
NM_001113378.2(FANCI):c.3730C>A (p.Leu1244Ile) rs1321885310 0.00001
NM_001113378.2(FANCI):c.3801T>G (p.Leu1267=) rs993279086 0.00001
NM_001113378.2(FANCI):c.3809A>G (p.Lys1270Arg) rs749287934 0.00001
NM_001113378.2(FANCI):c.3816+4A>G rs575207637 0.00001
NM_001113378.2(FANCI):c.3834C>T (p.His1278=) rs1450412741 0.00001
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys) rs780404413 0.00001
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp) rs749756525 0.00001
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys) rs561190476 0.00001
NM_001113378.2(FANCI):c.3924+16T>G rs1260139637 0.00001
NM_001113378.2(FANCI):c.3924+3C>T rs766430678 0.00001
NM_001113378.2(FANCI):c.3924G>C (p.Glu1308Asp) rs760646851 0.00001
NM_001113378.2(FANCI):c.3925-10C>G rs1308242761 0.00001
NM_001113378.2(FANCI):c.3925G>A (p.Gly1309Ser) rs1357711884 0.00001
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser) rs754573704 0.00001
NM_001113378.2(FANCI):c.394A>G (p.Ile132Val) rs749540937 0.00001
NM_001113378.2(FANCI):c.3954C>T (p.Asn1318=) rs778130460 0.00001
NM_001113378.2(FANCI):c.3977G>T (p.Arg1326Met) rs916916820 0.00001
NM_001113378.2(FANCI):c.39A>T (p.Thr13=) rs201981373 0.00001
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val) rs768553208 0.00001
NM_001113378.2(FANCI):c.411G>A (p.Leu137=) rs770909223 0.00001
NM_001113378.2(FANCI):c.416C>T (p.Thr139Met) rs1161378135 0.00001
NM_001113378.2(FANCI):c.417G>A (p.Thr139=) rs776382823 0.00001
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu) rs1410323660 0.00001
NM_001113378.2(FANCI):c.445+13C>T rs369924984 0.00001
NM_001113378.2(FANCI):c.446-19G>A rs775410661 0.00001
NM_001113378.2(FANCI):c.475C>G (p.Gln159Glu) rs765463274 0.00001
NM_001113378.2(FANCI):c.497C>G (p.Ser166Cys) rs745789593 0.00001
NM_001113378.2(FANCI):c.504-3C>T rs1457153041 0.00001
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter) rs771312042 0.00001
NM_001113378.2(FANCI):c.538A>T (p.Met180Leu) rs1233794193 0.00001
NM_001113378.2(FANCI):c.539T>C (p.Met180Thr) rs139834845 0.00001
NM_001113378.2(FANCI):c.546-6C>T rs754929965 0.00001
NM_001113378.2(FANCI):c.557T>C (p.Leu186Pro) rs1370113722 0.00001
NM_001113378.2(FANCI):c.558G>T (p.Leu186=) rs746658213 0.00001
NM_001113378.2(FANCI):c.571G>A (p.Val191Met) rs1296106146 0.00001
NM_001113378.2(FANCI):c.609C>T (p.Ser203=) rs762005980 0.00001
NM_001113378.2(FANCI):c.614T>G (p.Met205Arg) rs750520404 0.00001
NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln) rs752707646 0.00001
NM_001113378.2(FANCI):c.669+8T>C rs942269232 0.00001
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val) rs749779839 0.00001
NM_001113378.2(FANCI):c.735T>C (p.Asn245=) rs1230412125 0.00001
NM_001113378.2(FANCI):c.755+11T>C rs763895201 0.00001
NM_001113378.2(FANCI):c.794G>A (p.Arg265His) rs375652309 0.00001
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val) rs778263817 0.00001
NM_001113378.2(FANCI):c.837C>T (p.Ile279=) rs2053064958 0.00001
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser) rs575416245 0.00001
NM_001113378.2(FANCI):c.918T>G (p.Ser306Arg) rs745623288 0.00001
NM_001113378.2(FANCI):c.924C>T (p.Phe308=) rs1201490769 0.00001
NM_001113378.2(FANCI):c.925A>G (p.Ser309Gly) rs1184166680 0.00001
NM_001113378.2(FANCI):c.92A>G (p.Asn31Ser) rs745341673 0.00001
NM_001113378.2(FANCI):c.955A>G (p.Ile319Val) rs1451676691 0.00001
NM_001113378.2(FANCI):c.975+11A>T rs759815521 0.00001
NM_001113378.2(FANCI):c.975+3A>G rs773615217 0.00001
NM_001113378.2(FANCI):c.976-6C>T rs2053316788 0.00001
NM_001113378.2(FANCI):c.976-9A>G rs1350162211 0.00001
NM_001113378.2(FANCI):c.999G>A (p.Ser333=) rs367991076 0.00001
NM_001113525.2(ZNF276):c.*1047G>C rs372364590 0.00001
NM_001113525.2(ZNF276):c.*1063G>A rs766594215 0.00001
NM_001113525.2(ZNF276):c.*1218G>A rs1339996571 0.00001
NM_001113525.2(ZNF276):c.*1220G>A rs1445940471 0.00001
NM_001113525.2(ZNF276):c.*1228G>A rs1206285832 0.00001
NM_001113525.2(ZNF276):c.*1311C>T rs1392135704 0.00001
NM_001113525.2(ZNF276):c.*1738dup rs755153673 0.00001
NM_001113525.2(ZNF276):c.*1739G>A rs201323033 0.00001
NM_001113525.2(ZNF276):c.*1863G>A rs374510260 0.00001
NM_001113525.2(ZNF276):c.*473G>A rs2062032586 0.00001
NM_001113525.2(ZNF276):c.*739A>G rs753475025 0.00001
NM_001113525.2(ZNF276):c.*883C>T rs370080063 0.00001
NM_001113525.2(ZNF276):c.1475-56C>T rs886052478 0.00001
NM_001113525.2(ZNF276):c.1575G>A (p.Gln525=) rs779094661 0.00001
NM_001114134.2(EPB42):c.1501del (p.Ser501fs) rs777764528 0.00001
NM_001114134.2(EPB42):c.1532T>C (p.Ile511Thr) rs1190513717 0.00001
NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn) rs1374938976 0.00001
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile) rs515726211 0.00001
NM_001114134.2(EPB42):c.832G>C (p.Val278Leu) rs772330879 0.00001
NM_001114134.2(EPB42):c.860G>A (p.Arg287His) rs371685912 0.00001
NM_001114134.2(EPB42):c.890G>T (p.Gly297Val) rs1292537932 0.00001
NM_001114134.2(EPB42):c.901C>T (p.Arg301Cys) rs886051167 0.00001
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly) rs1904552378 0.00001
NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=) rs186462241 0.00001
NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe) rs1027478327 0.00001
NM_001174125.2(SLC11A2):c.49+1791C>T rs920922103 0.00001
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser) rs746068220 0.00001
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr) rs886051894 0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=) rs3169548 0.00001
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val) rs929389001 0.00001
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=) rs758280973 0.00001
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys) rs199852002 0.00001
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys) rs776187312 0.00001
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp) rs775705038 0.00001
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His) rs778814633 0.00001
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu) rs1283845684 0.00001
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val) rs1463243958 0.00001
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=) rs573479181 0.00001
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg) rs760807537 0.00001
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys) rs779421883 0.00001
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp) rs565013143 0.00001
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=) rs1175852840 0.00001
NM_001271696.3(ABCB7):c.168+13T>C rs1057515989 0.00001
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg) rs141119655 0.00001
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile) rs768257406 0.00001
NM_001271696.3(ABCB7):c.2073T>C (p.His691=) rs781524899 0.00001
NM_001287444.2(DCDC2C):c.955-1G>C rs1167362443 0.00001
NM_001319999.2(RACGAP1):c.1294C>T (p.Pro432Ser) rs760038605 0.00001
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser) rs587777101 0.00001
NM_001354741.2(PFKM):c.-81+1955A>G rs755094329 0.00001
NM_001355436.2(SPTB):c.220C>T (p.Arg74Cys) rs575005279 0.00001
NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro) rs121918645 0.00001
NM_001358263.1(HK1):c.75+20308C>T rs756166032 0.00001
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) rs1557229854 0.00001
NM_001360016.2(G6PD):c.1052-10C>T rs1557229778 0.00001
NM_001360016.2(G6PD):c.1052-9G>A rs1334473526 0.00001
NM_001360016.2(G6PD):c.1059C>T (p.Pro353=) rs80280508 0.00001
NM_001360016.2(G6PD):c.1074C>T (p.Cys358=) rs782078151 0.00001
NM_001360016.2(G6PD):c.1084C>T (p.Leu362=) rs375809290 0.00001
NM_001360016.2(G6PD):c.1086G>A (p.Leu362=) rs1557229739 0.00001
NM_001360016.2(G6PD):c.1254G>A (p.Ser418=) rs371808526 0.00001
NM_001360016.2(G6PD):c.1287+14A>G rs1557229641 0.00001
NM_001360016.2(G6PD):c.1290C>T (p.Asn430=) rs782761811 0.00001
NM_001360016.2(G6PD):c.1314G>A (p.Glu438=) rs1557229604 0.00001
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) rs1557229572 0.00001
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn) rs782317415 0.00001
NM_001360016.2(G6PD):c.1464C>T (p.Gly488=) rs1557229428 0.00001
NM_001360016.2(G6PD):c.1485G>A (p.Leu495=) rs781923155 0.00001
NM_001360016.2(G6PD):c.1506G>A (p.Gln502=) rs1447713922 0.00001
NM_001360016.2(G6PD):c.153C>T (p.Thr51=) rs2070406324 0.00001
NM_001360016.2(G6PD):c.177C>T (p.Gly59=) rs1557230778 0.00001
NM_001360016.2(G6PD):c.228A>T (p.Thr76=) rs782143230 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.251G>A (p.Ser84Asn) rs141830127 0.00001
NM_001360016.2(G6PD):c.267+7G>A rs2070402994 0.00001
NM_001360016.2(G6PD):c.309C>T (p.Ala103=) rs781967989 0.00001
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu) rs1557230626 0.00001
NM_001360016.2(G6PD):c.333G>A (p.Gln111=) rs782572765 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001360016.2(G6PD):c.396A>C (p.Ser132=) rs1557230597 0.00001
NM_001360016.2(G6PD):c.432G>A (p.Pro144=) rs782618375 0.00001
NM_001360016.2(G6PD):c.447C>T (p.Ala149=) rs1557230574 0.00001
NM_001360016.2(G6PD):c.485+13G>A rs781898381 0.00001
NM_001360016.2(G6PD):c.516C>T (p.Pro172=) rs781805733 0.00001
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe) rs782315572 0.00001
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys) rs1557230370 0.00001
NM_001360016.2(G6PD):c.645-8C>T rs782599047 0.00001
NM_001360016.2(G6PD):c.648T>C (p.Phe216=) rs137852319 0.00001
NM_001360016.2(G6PD):c.654C>T (p.Asn218=) rs1557230228 0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682 0.00001
NM_001360016.2(G6PD):c.663C>T (p.Phe221=) rs782530472 0.00001
NM_001360016.2(G6PD):c.771-9C>T rs1237524196 0.00001
NM_001360016.2(G6PD):c.774C>T (p.Asp258=) rs1252251475 0.00001
NM_001360016.2(G6PD):c.775G>A (p.Val259Met) rs782690505 0.00001
NM_001360016.2(G6PD):c.865-5C>T rs781920344 0.00001
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) rs781906610 0.00001
NM_001365304.2(LOC112694756):c.*621+5G>A rs774939475 0.00001
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=) rs976867694 0.00001
NM_001374504.1(TMPRSS6):c.1197-4C>G rs529716198 0.00001
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs) rs1384933966 0.00001
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter) rs137853123 0.00001
NM_001374504.1(TMPRSS6):c.1877_1878dup (p.Lys627fs) rs869320724 0.00001
NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=) rs565997258 0.00001
NM_001374504.1(TMPRSS6):c.2099C>T (p.Ala700Val) rs770790879 0.00001
NM_001374504.1(TMPRSS6):c.2134C>T (p.Gln712Ter) rs775869554 0.00001
NM_001374504.1(TMPRSS6):c.326C>A (p.Ala109Asp) rs267607121 0.00001
NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val) rs766769149 0.00001
NM_001374504.1(TMPRSS6):c.648C>A (p.Ser216Arg) rs758253807 0.00001
NM_001374504.1(TMPRSS6):c.693C>T (p.His231=) rs769301726 0.00001
NM_001374504.1(TMPRSS6):c.827T>G (p.Leu276Arg) rs372887020 0.00001
NM_001374504.1(TMPRSS6):c.865G>A (p.Val289Met) rs1319296800 0.00001
NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val) rs745905322 0.00001
NM_001376013.1(EPB41):c.1944+1G>C rs1477424620 0.00001
NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn) rs1302220038 0.00001
NM_001386140.1(MTTP):c.*1018G>A rs1036088923 0.00001
NM_001386140.1(MTTP):c.*184G>A rs146172944 0.00001
NM_001386140.1(MTTP):c.*490_*494del rs886058963 0.00001
NM_001386140.1(MTTP):c.*668A>G rs1021704277 0.00001
NM_001386140.1(MTTP):c.-20G>A rs752823787 0.00001
NM_001386140.1(MTTP):c.-28T>C rs886058956 0.00001
NM_001386140.1(MTTP):c.-54C>T rs181769817 0.00001
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter) rs1171996547 0.00001
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser) rs138544271 0.00001
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr) rs765712127 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_001386140.1(MTTP):c.1392del (p.Glu465fs) rs1725827570 0.00001
NM_001386140.1(MTTP):c.1407C>T (p.Asp469=) rs749203075 0.00001
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser) rs758939873 0.00001
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu) rs780688378 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001386140.1(MTTP):c.1867+5G>A rs1429774833 0.00001
NM_001386140.1(MTTP):c.1868-2A>G rs760547155 0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs) rs1725952378 0.00001
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu) rs1159084242 0.00001
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg) rs1309109456 0.00001
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys) rs886058958 0.00001
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys) rs149228079 0.00001
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His) rs752590883 0.00001
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile) rs572336571 0.00001
NM_001386140.1(MTTP):c.2532C>T (p.Tyr844=) rs781654995 0.00001
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn) rs1459889971 0.00001
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg) rs774949603 0.00001
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr) rs1283368181 0.00001
NM_001386140.1(MTTP):c.393+5A>G rs771577895 0.00001
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter) rs760855321 0.00001
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val) rs1252692732 0.00001
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg) rs746001155 0.00001
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val) rs748108500 0.00001
NM_001386140.1(MTTP):c.756G>A (p.Ser252=) rs750749323 0.00001
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp) rs1428463955 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 0.00001
NM_001724.5(BPGM):c.185G>A (p.Arg62Gln) rs751972865 0.00001
NM_001724.5(BPGM):c.268C>T (p.Arg90Cys) rs121964925 0.00001
NM_001724.5(BPGM):c.269G>A (p.Arg90His) rs781222092 0.00001
NM_002049.4(GATA1):c.1029C>T (p.Ser343=) rs1557020591 0.00001
NM_002049.4(GATA1):c.1232T>C (p.Leu411Pro) rs1460124191 0.00001
NM_002049.4(GATA1):c.150G>A (p.Pro50=) rs782678694 0.00001
NM_002049.4(GATA1):c.173C>T (p.Ala58Val) rs782299679 0.00001
NM_002049.4(GATA1):c.192G>A (p.Arg64=) rs781912832 0.00001
NM_002049.4(GATA1):c.216C>T (p.Ser72=) rs1180375270 0.00001
NM_002049.4(GATA1):c.220+10T>C rs782691816 0.00001
NM_002049.4(GATA1):c.221-4A>G rs782150782 0.00001
NM_002049.4(GATA1):c.282C>T (p.Ala94=) rs782123071 0.00001
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser) rs782790256 0.00001
NM_002049.4(GATA1):c.337C>T (p.Arg113Cys) rs782263736 0.00001
NM_002049.4(GATA1):c.343G>T (p.Asp115Tyr) rs914292956 0.00001
NM_002049.4(GATA1):c.373G>A (p.Asp125Asn) rs782411113 0.00001
NM_002049.4(GATA1):c.397C>T (p.Leu133=) rs1557020203 0.00001
NM_002049.4(GATA1):c.485C>T (p.Ala162Val) rs1177167183 0.00001
NM_002049.4(GATA1):c.598+3G>A rs782536159 0.00001
NM_002049.4(GATA1):c.599-13T>C rs1557020294 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_002049.4(GATA1):c.64G>A (p.Ala22Thr) rs782188059 0.00001
NM_002049.4(GATA1):c.727C>T (p.Arg243Trp) rs782632688 0.00001
NM_002049.4(GATA1):c.798G>A (p.Thr266=) rs184692721 0.00001
NM_002049.4(GATA1):c.889A>T (p.Met297Leu) rs1569499699 0.00001
NM_002049.4(GATA1):c.949C>A (p.Arg317=) rs781964937 0.00001
NM_002250.3(KCNN4):c.1007C>T (p.Ala336Val) rs141341073 0.00001
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met) rs140944718 0.00001
NM_002454.3(MTRR):c.1041A>G (p.Ala347=) rs1331838959 0.00001
NM_002454.3(MTRR):c.1057+7G>T rs767794040 0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.1131A>C (p.Arg377=) rs1050662553 0.00001
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val) rs746404785 0.00001
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser) rs1243456483 0.00001
NM_002454.3(MTRR):c.1147-6T>C rs781413511 0.00001
NM_002454.3(MTRR):c.1147-8T>C rs961118885 0.00001
NM_002454.3(MTRR):c.1149A>G (p.Ala383=) rs748418818 0.00001
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter) rs1421007019 0.00001
NM_002454.3(MTRR):c.1179T>C (p.Ser393=) rs1333791112 0.00001
NM_002454.3(MTRR):c.1227G>A (p.Gly409=) rs1250182164 0.00001
NM_002454.3(MTRR):c.1239T>C (p.Tyr413=) rs755507944 0.00001
NM_002454.3(MTRR):c.123C>T (p.Ser41=) rs759379396 0.00001
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln) rs749461781 0.00001
NM_002454.3(MTRR):c.1257T>C (p.Asp419=) rs1292824472 0.00001
NM_002454.3(MTRR):c.1266C>T (p.Ala422=) rs981600908 0.00001
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu) rs937595017 0.00001
NM_002454.3(MTRR):c.130-12C>G rs764724859 0.00001
NM_002454.3(MTRR):c.1311A>G (p.Pro437=) rs755561250 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.1371-10A>G rs368498814 0.00001
NM_002454.3(MTRR):c.13C>T (p.Leu5=) rs763313419 0.00001
NM_002454.3(MTRR):c.1443A>G (p.Thr481=) rs1359474445 0.00001
NM_002454.3(MTRR):c.1527T>C (p.His509=) rs1483514424 0.00001
NM_002454.3(MTRR):c.1533C>T (p.Asp511=) rs1269324233 0.00001
NM_002454.3(MTRR):c.1546C>T (p.Leu516=) rs1268958481 0.00001
NM_002454.3(MTRR):c.1554_1557+3del rs754619743 0.00001
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln) rs1343250131 0.00001
NM_002454.3(MTRR):c.1593C>T (p.His531=) rs778082216 0.00001
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser) rs771421325 0.00001
NM_002454.3(MTRR):c.1602T>C (p.Asp534=) rs1738404887 0.00001
NM_002454.3(MTRR):c.1666C>T (p.Leu556=) rs762466500 0.00001
NM_002454.3(MTRR):c.1676+10T>C rs757713803 0.00001
NM_002454.3(MTRR):c.1677-6A>G rs780299669 0.00001
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp) rs771123203 0.00001
NM_002454.3(MTRR):c.1764A>G (p.Leu588=) rs766927577 0.00001
NM_002454.3(MTRR):c.1769+8A>G rs892239997 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.1791T>C (p.Leu597=) rs767659059 0.00001
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala) rs1318949494 0.00001
NM_002454.3(MTRR):c.1857A>G (p.Glu619=) rs1416687292 0.00001
NM_002454.3(MTRR):c.1869G>A (p.Lys623=) rs768364684 0.00001
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser) rs144020429 0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=) rs9282786 0.00001
NM_002454.3(MTRR):c.1917C>A (p.Ile639=) rs778699591 0.00001
NM_002454.3(MTRR):c.1952+14G>A rs557018438 0.00001
NM_002454.3(MTRR):c.1992T>C (p.Leu664=) rs375588388 0.00001
NM_002454.3(MTRR):c.2031A>G (p.Leu677=) rs367590648 0.00001
NM_002454.3(MTRR):c.2052C>T (p.Ala684=) rs1427160228 0.00001
NM_002454.3(MTRR):c.2076C>T (p.Tyr692=) rs984089159 0.00001
NM_002454.3(MTRR):c.230del (p.Gln77fs) rs1408257020 0.00001
NM_002454.3(MTRR):c.303C>T (p.Tyr101=) rs1748681766 0.00001
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly) rs1484416611 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002454.3(MTRR):c.378T>C (p.Thr126=) rs577851734 0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=) rs560392566 0.00001
NM_002454.3(MTRR):c.39A>G (p.Gly13=) rs752509731 0.00001
NM_002454.3(MTRR):c.401+10G>A rs760026002 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_002454.3(MTRR):c.401+9A>G rs376866907 0.00001
NM_002454.3(MTRR):c.423G>A (p.Pro141=) rs753947379 0.00001
NM_002454.3(MTRR):c.432T>G (p.Ala144=) rs116439533 0.00001
NM_002454.3(MTRR):c.477A>G (p.Gly159=) rs1270504511 0.00001
NM_002454.3(MTRR):c.487A>G (p.Ile163Val) rs886060804 0.00001
NM_002454.3(MTRR):c.498A>G (p.Ala166=) rs747865209 0.00001
NM_002454.3(MTRR):c.504G>A (p.Pro168=) rs746183496 0.00001
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr) rs1182297284 0.00001
NM_002454.3(MTRR):c.52A>G (p.Ile18Val) rs753325140 0.00001
NM_002454.3(MTRR):c.588C>T (p.Phe196=) rs776897289 0.00001
NM_002454.3(MTRR):c.589G>C (p.Asp197His) rs748186027 0.00001
NM_002454.3(MTRR):c.594T>C (p.Asp198=) rs773514527 0.00001
NM_002454.3(MTRR):c.612T>C (p.Ser204=) rs374670570 0.00001
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe) rs1238722351 0.00001
NM_002454.3(MTRR):c.708A>G (p.Ser236=) rs372700667 0.00001
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe) rs1343821146 0.00001
NM_002454.3(MTRR):c.744A>G (p.Glu248=) rs749341418 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_002454.3(MTRR):c.780+20T>C rs563392085 0.00001
NM_002454.3(MTRR):c.807A>G (p.Ser269=) rs1348478237 0.00001
NM_002454.3(MTRR):c.832A>G (p.Ile278Val) rs1377146830 0.00001
NM_002454.3(MTRR):c.84A>G (p.Val28=) rs1045121482 0.00001
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly) rs766083570 0.00001
NM_002454.3(MTRR):c.903+19T>A rs930028739 0.00001
NM_002454.3(MTRR):c.904-10del rs1467919139 0.00001
NM_002454.3(MTRR):c.936C>T (p.Ala312=) rs777075473 0.00001
NM_002454.3(MTRR):c.942C>T (p.Ser314=) rs770336060 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) rs756572268 0.00001
NM_002485.5(NBN):c.135T>A (p.His45Gln) rs770618624 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 0.00001
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser) rs730881851 0.00001
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly) rs878854505 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.1580A>T (p.Asp527Val) rs1554558407 0.00001
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys) rs1586053587 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) rs746632073 0.00001
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg) rs1367898317 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.321-3C>T rs751356470 0.00001
NM_002485.5(NBN):c.350C>T (p.Ser117Phe) rs1060503468 0.00001
NM_002485.5(NBN):c.361G>C (p.Asp121His) rs777916019 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.490G>T (p.Ala164Ser) rs786201252 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_002485.5(NBN):c.703C>T (p.His235Tyr) rs1554564044 0.00001
NM_002485.5(NBN):c.772G>C (p.Glu258Gln) rs922057169 0.00001
NM_002485.5(NBN):c.826A>T (p.Thr276Ser) rs1554563895 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001
NM_002948.5(RPL15):c.536A>G (p.Lys179Arg) rs774572575 0.00001
NM_003126.4(SPTA1):c.*379G>A rs976671141 0.00001
NM_003126.4(SPTA1):c.10T>C (p.Phe4Leu) rs753495645 0.00001
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638 0.00001
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) rs121918635 0.00001
NM_003126.4(SPTA1):c.1463T>A (p.Val488Glu) rs754575328 0.00001
NM_003126.4(SPTA1):c.1573T>C (p.Phe525Leu) rs886045391 0.00001
NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met) rs777149969 0.00001
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter) rs751026146 0.00001
NM_003126.4(SPTA1):c.2323T>C (p.Phe775Leu) rs772872696 0.00001
NM_003126.4(SPTA1):c.2822A>G (p.His941Arg) rs751259397 0.00001
NM_003126.4(SPTA1):c.3189-10C>T rs769083223 0.00001
NM_003126.4(SPTA1):c.3189-13A>G rs776423390 0.00001
NM_003126.4(SPTA1):c.4180del (p.Cys1394fs) rs779174182 0.00001
NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg) rs568501725 0.00001
NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly) rs369714529 0.00001
NM_003126.4(SPTA1):c.5093T>C (p.Val1698Ala) rs182430449 0.00001
NM_003126.4(SPTA1):c.5433-13C>A rs770095010 0.00001
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly) rs746827368 0.00001
NM_003126.4(SPTA1):c.5566-11T>C rs886045382 0.00001
NM_003126.4(SPTA1):c.5643A>G (p.Gln1881=) rs375384407 0.00001
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) rs199547344 0.00001
NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn) rs757836340 0.00001
NM_003126.4(SPTA1):c.6359C>G (p.Thr2120Ser) rs182897201 0.00001
NM_003126.4(SPTA1):c.6372G>A (p.Val2124=) rs1376244991 0.00001
NM_003126.4(SPTA1):c.6621G>A (p.Gln2207=) rs1206486118 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_003126.4(SPTA1):c.679-5A>C rs772845211 0.00001
NM_003126.4(SPTA1):c.6868C>T (p.Arg2290Cys) rs553043635 0.00001
NM_003126.4(SPTA1):c.7228G>A (p.Val2410Ile) rs750904139 0.00001
NM_003126.4(SPTA1):c.7237A>T (p.Thr2413Ser) rs376198878 0.00001
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642 0.00001
NM_003126.4(SPTA1):c.966G>A (p.Glu322=) rs750150735 0.00001
NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer) rs763817505 0.00001
NM_004629.1(FANCG):c.-491G>A rs886063901 0.00001
NM_004629.2(FANCG):c.*101A>G rs751616369 0.00001
NM_004629.2(FANCG):c.-276G>A rs1445799529 0.00001
NM_004629.2(FANCG):c.-311T>A rs886063900 0.00001
NM_004629.2(FANCG):c.-348A>G rs376750755 0.00001
NM_004629.2(FANCG):c.1005C>T (p.Ala335=) rs1243179658 0.00001
NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys) rs755919340 0.00001
NM_004629.2(FANCG):c.1077-19A>T rs771086628 0.00001
NM_004629.2(FANCG):c.1077G>A (p.Arg359=) rs901079231 0.00001
NM_004629.2(FANCG):c.1086C>T (p.Asp362=) rs376623996 0.00001
NM_004629.2(FANCG):c.1095G>A (p.Glu365=) rs1587140720 0.00001
NM_004629.2(FANCG):c.1128T>C (p.Asp376=) rs1428329520 0.00001
NM_004629.2(FANCG):c.1134G>A (p.Ser378=) rs530574134 0.00001
NM_004629.2(FANCG):c.1144-9C>T rs778217810 0.00001
NM_004629.2(FANCG):c.1162C>G (p.Pro388Ala) rs1356114266 0.00001
NM_004629.2(FANCG):c.1188G>A (p.Val396=) rs771715036 0.00001
NM_004629.2(FANCG):c.1189T>C (p.Phe397Leu) rs1060501868 0.00001
NM_004629.2(FANCG):c.1203G>A (p.Ala401=) rs770325434 0.00001
NM_004629.2(FANCG):c.1222G>A (p.Gly408Ser) rs371171892 0.00001
NM_004629.2(FANCG):c.1233A>G (p.Gln411=) rs371809395 0.00001
NM_004629.2(FANCG):c.124T>C (p.Leu42=) rs775053536 0.00001
NM_004629.2(FANCG):c.1252G>A (p.Glu418Lys) rs886063896 0.00001
NM_004629.2(FANCG):c.1268G>A (p.Arg423His) rs757276792 0.00001
NM_004629.2(FANCG):c.1287C>T (p.Pro429=) rs767253119 0.00001
NM_004629.2(FANCG):c.1298G>C (p.Arg433Pro) rs748738986 0.00001
NM_004629.2(FANCG):c.1354G>A (p.Val452Ile) rs756069860 0.00001
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) rs767385265 0.00001
NM_004629.2(FANCG):c.1422T>C (p.Ser474=) rs144369518 0.00001
NM_004629.2(FANCG):c.1433+12G>A rs201070684 0.00001
NM_004629.2(FANCG):c.1433+8C>T rs772542885 0.00001
NM_004629.2(FANCG):c.1434-6C>T rs1404150675 0.00001
NM_004629.2(FANCG):c.1437C>T (p.Cys479=) rs904322133 0.00001
NM_004629.2(FANCG):c.1473A>G (p.Lys491=) rs769921972 0.00001
NM_004629.2(FANCG):c.1481-4C>A rs1829057884 0.00001
NM_004629.2(FANCG):c.1492A>C (p.Asn498His) rs748364103 0.00001
NM_004629.2(FANCG):c.1497T>C (p.Cys499=) rs1340517333 0.00001
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr) rs373151602 0.00001
NM_004629.2(FANCG):c.1563A>G (p.Gly521=) rs1240720328 0.00001
NM_004629.2(FANCG):c.1567G>C (p.Glu523Gln) rs761993636 0.00001
NM_004629.2(FANCG):c.156G>C (p.Gly52=) rs778234892 0.00001
NM_004629.2(FANCG):c.1575A>G (p.Val525=) rs1340065874 0.00001
NM_004629.2(FANCG):c.1578C>T (p.Ala526=) rs1060504371 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.158T>G (p.Leu53Arg) rs756388446 0.00001
NM_004629.2(FANCG):c.1595A>G (p.Lys532Arg) rs1587139402 0.00001
NM_004629.2(FANCG):c.1615C>G (p.Leu539Val) rs1486862292 0.00001
NM_004629.2(FANCG):c.1617C>T (p.Leu539=) rs1000355215 0.00001
NM_004629.2(FANCG):c.1626G>C (p.Gln542His) rs1060501867 0.00001
NM_004629.2(FANCG):c.1637-2del rs1224034435 0.00001
NM_004629.2(FANCG):c.1652A>C (p.Tyr551Ser) rs1447816480 0.00001
NM_004629.2(FANCG):c.1662G>A (p.Leu554=) rs750982155 0.00001
NM_004629.2(FANCG):c.1687C>T (p.Arg563Trp) rs754258080 0.00001
NM_004629.2(FANCG):c.1688G>A (p.Arg563Gln) rs1309056736 0.00001
NM_004629.2(FANCG):c.175+1G>A rs927868500 0.00001
NM_004629.2(FANCG):c.175+7G>A rs1340619797 0.00001
NM_004629.2(FANCG):c.1761-2A>C rs765150956 0.00001
NM_004629.2(FANCG):c.176G>A (p.Gly59Glu) rs538555981 0.00001
NM_004629.2(FANCG):c.1806C>T (p.Pro602=) rs756632525 0.00001
NM_004629.2(FANCG):c.1814G>A (p.Arg605His) rs751710424 0.00001
NM_004629.2(FANCG):c.1815T>C (p.Arg605=) rs1455440698 0.00001
NM_004629.2(FANCG):c.1818C>T (p.Asp606=) rs766524415 0.00001
NM_004629.2(FANCG):c.282G>A (p.Gln94=) rs1373739426 0.00001
NM_004629.2(FANCG):c.308-11A>G rs371822998 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004629.2(FANCG):c.314A>G (p.Glu105Gly) rs769048669 0.00001
NM_004629.2(FANCG):c.338G>A (p.Arg113Lys) rs778894219 0.00001
NM_004629.2(FANCG):c.387C>T (p.Ser129=) rs1419629240 0.00001
NM_004629.2(FANCG):c.423C>A (p.Arg141=) rs1829121800 0.00001
NM_004629.2(FANCG):c.463C>T (p.Arg155Cys) rs200926249 0.00001
NM_004629.2(FANCG):c.495C>G (p.Thr165=) rs1829120053 0.00001
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser) rs749946550 0.00001
NM_004629.2(FANCG):c.549T>C (p.Thr183=) rs1163330730 0.00001
NM_004629.2(FANCG):c.564T>C (p.Ala188=) rs1015283839 0.00001
NM_004629.2(FANCG):c.634G>A (p.Ala212Thr) rs775291829 0.00001
NM_004629.2(FANCG):c.646+5G>A rs1453133047 0.00001
NM_004629.2(FANCG):c.646+9G>A rs1829102198 0.00001
NM_004629.2(FANCG):c.647-15C>A rs764036260 0.00001
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter) rs1209807088 0.00001
NM_004629.2(FANCG):c.654G>A (p.Gln218=) rs1260636663 0.00001
NM_004629.2(FANCG):c.678C>T (p.Asp226=) rs1187334238 0.00001
NM_004629.2(FANCG):c.682G>A (p.Ala228Thr) rs765095688 0.00001
NM_004629.2(FANCG):c.6C>T (p.Ser2=) rs774139167 0.00001
NM_004629.2(FANCG):c.73C>G (p.Arg25Gly) rs752839554 0.00001
NM_004629.2(FANCG):c.747C>T (p.Tyr249=) rs1043957 0.00001
NM_004629.2(FANCG):c.774G>A (p.Lys258=) rs1159014432 0.00001
NM_004629.2(FANCG):c.777+8C>G rs367809061 0.00001
NM_004629.2(FANCG):c.778-20G>T rs749563301 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_004629.2(FANCG):c.84+9G>T rs759504806 0.00001
NM_004629.2(FANCG):c.840T>C (p.Gly280=) rs778142751 0.00001
NM_004629.2(FANCG):c.85-19C>T rs1028747262 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004629.2(FANCG):c.85-8T>C rs767607055 0.00001
NM_004629.2(FANCG):c.869A>G (p.Tyr290Cys) rs779840229 0.00001
NM_004629.2(FANCG):c.8G>T (p.Arg3Leu) rs770674344 0.00001
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile) rs61757386 0.00001
NM_004629.2(FANCG):c.924+3A>G rs1338383222 0.00001
NM_004629.2(FANCG):c.925-6T>C rs768761780 0.00001
NM_004629.2(FANCG):c.933_938dup (p.Val312_Pro313dup) rs1199832786 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_004629.2(FANCG):c.999C>T (p.Asp333=) rs762238437 0.00001
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys) rs1446995315 0.00001
NM_005050.4(ABCD4):c.1028+17C>T rs1290816055 0.00001
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys) rs201100662 0.00001
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=) rs546298874 0.00001
NM_005050.4(ABCD4):c.12G>C (p.Ala4=) rs754280972 0.00001
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=) rs201586690 0.00001
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg) rs759539743 0.00001
NM_005050.4(ABCD4):c.1365G>A (p.Gly455=) rs760206135 0.00001
NM_005050.4(ABCD4):c.1371A>G (p.Leu457=) rs780349078 0.00001
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg) rs1360319567 0.00001
NM_005050.4(ABCD4):c.1449C>T (p.Pro483=) rs747273884 0.00001
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=) rs555792734 0.00001
NM_005050.4(ABCD4):c.158-7C>A rs557930358 0.00001
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile) rs780846855 0.00001
NM_005050.4(ABCD4):c.166G>A (p.Val56Met) rs2083804334 0.00001
NM_005050.4(ABCD4):c.1752+2T>C rs151116417 0.00001
NM_005050.4(ABCD4):c.1753-18G>A rs772567988 0.00001
NM_005050.4(ABCD4):c.1753-4G>A rs554458015 0.00001
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys) rs773609274 0.00001
NM_005050.4(ABCD4):c.285+19T>C rs369159114 0.00001
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr) rs371774856 0.00001
NM_005050.4(ABCD4):c.360C>T (p.His120=) rs1050702853 0.00001
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His) rs1349388678 0.00001
NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys) rs776529140 0.00001
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp) rs373322009 0.00001
NM_005050.4(ABCD4):c.542+1G>T rs769364566 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005050.4(ABCD4):c.594C>T (p.Thr198=) rs202070697 0.00001
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg) rs1280841182 0.00001
NM_005050.4(ABCD4):c.669-7C>T rs371152472 0.00001
NM_005050.4(ABCD4):c.6G>A (p.Ala2=) rs1486429349 0.00001
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr) rs761053363 0.00001
NM_005050.4(ABCD4):c.9C>G (p.Val3=) rs72542410 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.1211C>G (p.Pro404Arg) rs1460997213 0.00001
NM_005142.3(CBLIF):c.192C>T (p.Ala64=) rs1011636376 0.00001
NM_005142.3(CBLIF):c.239T>C (p.Met80Thr) rs376339959 0.00001
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) rs200856492 0.00001
NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr) rs1458037304 0.00001
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu) rs765535723 0.00001
NM_005236.3(ERCC4):c.1102+1G>T rs1314323456 0.00001
NM_005236.3(ERCC4):c.1102+7T>A rs766826151 0.00001
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn) rs774643449 0.00001
NM_005236.3(ERCC4):c.1116A>G (p.Glu372=) rs760060914 0.00001
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg) rs751348446 0.00001
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser) rs767454772 0.00001
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=) rs752193295 0.00001
NM_005236.3(ERCC4):c.1214-4T>G rs2032257283 0.00001
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly) rs751095195 0.00001
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn) rs767138486 0.00001
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter) rs762738968 0.00001
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly) rs752379459 0.00001
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val) rs767408205 0.00001
NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp) rs1234856735 0.00001
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys) rs1473430382 0.00001
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg) rs1001540758 0.00001
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr) rs368559924 0.00001
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) rs1298488189 0.00001
NM_005236.3(ERCC4):c.1347C>A (p.Val449=) rs1352012558 0.00001
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg) rs759312308 0.00001
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys) rs757860762 0.00001
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His) rs766111215 0.00001
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=) rs768020598 0.00001
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp) rs779170299 0.00001
NM_005236.3(ERCC4):c.15G>A (p.Gln5=) rs748509102 0.00001
NM_005236.3(ERCC4):c.1632C>T (p.Phe544=) rs1002156756 0.00001
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 0.00001
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu) rs751782722 0.00001
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) rs749814308 0.00001
NM_005236.3(ERCC4):c.1899C>G (p.Leu633=) rs954215121 0.00001
NM_005236.3(ERCC4):c.1905-7C>G rs1459073174 0.00001
NM_005236.3(ERCC4):c.1971A>G (p.Val657=) rs993218238 0.00001
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser) rs753506602 0.00001
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp) rs756811179 0.00001
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) rs779366136 0.00001
NM_005236.3(ERCC4):c.2017+3G>A rs1596634140 0.00001
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys) rs772728961 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=) rs769731155 0.00001
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys) rs777184889 0.00001
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=) rs1255618541 0.00001
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=) rs372425414 0.00001
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) rs753924297 0.00001
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=) rs1477890575 0.00001
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys) rs535728795 0.00001
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) rs61760162 0.00001
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu) rs765712858 0.00001
NM_005236.3(ERCC4):c.2421T>C (p.His807=) rs1387272253 0.00001
NM_005236.3(ERCC4):c.2434T>C (p.Leu812=) rs1295720869 0.00001
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu) rs774635437 0.00001
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr) rs138583819 0.00001
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser) rs377562755 0.00001
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser) rs749822053 0.00001
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys) rs587778284 0.00001
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys) rs191886782 0.00001
NM_005236.3(ERCC4):c.2646C>T (p.Asp882=) rs538267970 0.00001
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys) rs2032564211 0.00001
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu) rs2020956 0.00001
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val) rs767586458 0.00001
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val) rs753596005 0.00001
NM_005236.3(ERCC4):c.376G>C (p.Asp126His) rs1192940719 0.00001
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu) rs754622238 0.00001
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys) rs145402255 0.00001
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) rs1012646362 0.00001
NM_005236.3(ERCC4):c.541G>A (p.Val181Met) rs750673145 0.00001
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu) rs748499820 0.00001
NM_005236.3(ERCC4):c.718C>T (p.Leu240=) rs746904084 0.00001
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu) rs370864937 0.00001
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu) rs765111229 0.00001
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile) rs1265753536 0.00001
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met) rs746106147 0.00001
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro) rs2032156137 0.00001
NM_005236.3(ERCC4):c.840G>A (p.Lys280=) rs886051659 0.00001
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) rs1408777193 0.00001
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met) rs1340754747 0.00001
NM_005236.3(ERCC4):c.948G>A (p.Thr316=) rs770736492 0.00001
NM_005236.3(ERCC4):c.974-17T>C rs2032183635 0.00001
NM_005334.3(HCFC1):c.1085-15T>C rs782302951 0.00001
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=) rs1557116370 0.00001
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala) rs781937365 0.00001
NM_005334.3(HCFC1):c.138G>C (p.Val46=) rs782634164 0.00001
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=) rs782186278 0.00001
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) rs1557115850 0.00001
NM_005334.3(HCFC1):c.2029-17C>T rs1184396495 0.00001
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=) rs1322440288 0.00001
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422 0.00001
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=) rs782276292 0.00001
NM_005334.3(HCFC1):c.2475C>T (p.His825=) rs782533163 0.00001
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=) rs1557115062 0.00001
NM_005334.3(HCFC1):c.2636-16G>T rs782607911 0.00001
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280 0.00001
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=) rs782774910 0.00001
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val) rs781971515 0.00001
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163 0.00001
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452 0.00001
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) rs868910589 0.00001
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr) rs782235304 0.00001
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp) rs1043389387 0.00001
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=) rs782676033 0.00001
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277 0.00001
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) rs1204221011 0.00001
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala) rs1557113936 0.00001
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg) rs781875988 0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) rs1557113656 0.00001
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=) rs946537625 0.00001
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048 0.00001
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=) rs782136932 0.00001
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=) rs782322654 0.00001
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile) rs371594842 0.00001
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) rs1004412459 0.00001
NM_005334.3(HCFC1):c.4333+11G>T rs1557113474 0.00001
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly) rs782122807 0.00001
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile) rs935130398 0.00001
NM_005334.3(HCFC1):c.477C>T (p.Ser159=) rs1272514582 0.00001
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr) rs1557112927 0.00001
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val) rs372010656 0.00001
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=) rs368086196 0.00001
NM_005334.3(HCFC1):c.4942+9C>T rs782480118 0.00001
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) rs782467999 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=) rs372903122 0.00001
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) rs1360396448 0.00001
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg) rs1557112412 0.00001
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) rs377138805 0.00001
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=) rs2065298662 0.00001
NM_005334.3(HCFC1):c.6069-16T>C rs1184614214 0.00001
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=) rs1242952055 0.00001
NM_005334.3(HCFC1):c.648C>G (p.Ser216=) rs1557117476 0.00001
NM_005334.3(HCFC1):c.684G>A (p.Arg228=) rs781873669 0.00001
NM_005334.3(HCFC1):c.753G>A (p.Ala251=) rs1557117195 0.00001
NM_005373.3(MPL):c.1169G>A (p.Arg390His) rs1298113648 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile) rs569810249 0.00001
NM_005431.2(XRCC2):c.300A>G (p.Leu100=) rs146700851 0.00001
NM_005431.2(XRCC2):c.659A>T (p.Asp220Val) rs765021741 0.00001
NM_005431.2(XRCC2):c.714G>C (p.Arg238Ser) rs534746330 0.00001
NM_005431.2(XRCC2):c.97G>C (p.Ala33Pro) rs774296079 0.00001
NM_005689.4(ABCB6):c.1124G>A (p.Arg375Gln) rs754667801 0.00001
NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala) rs763768429 0.00001
NM_006363.5(SEC23B):c.-80G>A rs886056524 0.00001
NM_006363.6(SEC23B):c.*32T>G rs879811598 0.00001
NM_006363.6(SEC23B):c.*448C>T rs550932027 0.00001
NM_006363.6(SEC23B):c.*561A>C rs778992067 0.00001
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=) rs758029042 0.00001
NM_006363.6(SEC23B):c.1234-11A>G rs187699090 0.00001
NM_006363.6(SEC23B):c.123C>T (p.Leu41=) rs554409729 0.00001
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=) rs767683935 0.00001
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=) rs201656419 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser) rs150210442 0.00001
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=) rs900752773 0.00001
NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile) rs757801115 0.00001
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys) rs768018657 0.00001
NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val) rs755836066 0.00001
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456 0.00001
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=) rs921580564 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=) rs779351917 0.00001
NM_006363.6(SEC23B):c.1992+12T>C rs780986610 0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748 0.00001
NM_006363.6(SEC23B):c.221+3A>G rs777858803 0.00001
NM_006363.6(SEC23B):c.236G>A (p.Arg79Gln) rs370537015 0.00001
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val) rs754320262 0.00001
NM_006363.6(SEC23B):c.711G>A (p.Lys237=) rs773579451 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile) rs1363436677 0.00001
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=) rs372092107 0.00001
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr) rs780529723 0.00001
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=) rs755679518 0.00001
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=) rs758184335 0.00001
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=) rs750237005 0.00001
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met) rs764168088 0.00001
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=) rs769414573 0.00001
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile) rs200819771 0.00001
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His) rs201748668 0.00001
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn) rs774241047 0.00001
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) rs201815571 0.00001
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=) rs766043826 0.00001
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=) rs762583668 0.00001
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His) rs370031715 0.00001
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=) rs760599149 0.00001
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys) rs1333609390 0.00001
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu) rs774348625 0.00001
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala) rs781521534 0.00001
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala) rs987202561 0.00001
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=) rs759617721 0.00001
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr) rs1017082606 0.00001
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017 0.00001
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys) rs1387203768 0.00001
NM_006516.4(SLC2A1):c.679+5G>A rs771386274 0.00001
NM_006516.4(SLC2A1):c.680-16C>T rs752942175 0.00001
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=) rs770293853 0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) rs375853334 0.00001
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu) rs1302959508 0.00001
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu) rs1205631854 0.00001
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=) rs775408842 0.00001
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met) rs746091725 0.00001
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=) rs1643460439 0.00001
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr) rs1040371265 0.00001
NM_006563.5(KLF1):c.*2C>T rs778904219 0.00001
NM_006563.5(KLF1):c.*312G>C rs1970414362 0.00001
NM_006563.5(KLF1):c.255G>A (p.Pro85=) rs886054238 0.00001
NM_006563.5(KLF1):c.286C>T (p.Leu96=) rs748056490 0.00001
NM_006563.5(KLF1):c.353G>A (p.Gly118Asp) rs886054237 0.00001
NM_006563.5(KLF1):c.409C>T (p.Arg137Cys) rs111888566 0.00001
NM_006563.5(KLF1):c.606G>A (p.Gly202=) rs886054236 0.00001
NM_006563.5(KLF1):c.690C>T (p.Ala230=) rs775669419 0.00001
NM_006947.4(SRP72):c.*227G>A rs879875987 0.00001
NM_006947.4(SRP72):c.*473G>A rs1020026480 0.00001
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu) rs752240949 0.00001
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly) rs1719782337 0.00001
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu) rs763655714 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.1001G>A (p.Gly334Asp) rs199921604 0.00001
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=) rs772129644 0.00001
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val) rs756487822 0.00001
NM_006996.3(SLC19A2):c.1149G>C (p.Val383=) rs747484241 0.00001
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val) rs1490832268 0.00001
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) rs121908540 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_007294.4(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838 0.00001
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu) rs62625300 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) rs786202386 0.00001
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934 0.00001
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) rs144792613 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val) rs587781768 0.00001
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys) rs141255461 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.527C>T (p.Thr176Met) rs587782747 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg) rs748156170 0.00001
NM_015077.4(SARM1):c.*1343G>T rs149579635 0.00001
NM_015077.4(SARM1):c.*1849C>T rs988138947 0.00001
NM_015077.4(SARM1):c.*2150T>C rs886052748 0.00001
NM_015077.4(SARM1):c.1924-38G>T rs886052740 0.00001
NM_015077.4(SARM1):c.1924-407C>T rs1216449496 0.00001
NM_015077.4(SARM1):c.1924-569T>C rs528235797 0.00001
NM_015506.3(MMACHC):c.114C>T (p.Ala38=) rs372262322 0.00001
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp) rs780981680 0.00001
NM_015506.3(MMACHC):c.159C>T (p.Leu53=) rs371927733 0.00001
NM_015506.3(MMACHC):c.180C>T (p.Asp60=) rs535215325 0.00001
NM_015506.3(MMACHC):c.199T>C (p.Leu67=) rs1272042617 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.213C>T (p.His71=) rs746112343 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) rs772225967 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.258T>C (p.His86=) rs1005452717 0.00001
NM_015506.3(MMACHC):c.276+10G>A rs1229858789 0.00001
NM_015506.3(MMACHC):c.282C>T (p.Leu94=) rs751229877 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) rs187869948 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala) rs1010232462 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys) rs374086070 0.00001
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn) rs563710045 0.00001
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996 0.00001
NM_015506.3(MMACHC):c.423G>A (p.Gly141=) rs1035201847 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser) rs1553162901 0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470 0.00001
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015 0.00001
NM_015506.3(MMACHC):c.48A>G (p.Leu16=) rs1366120426 0.00001
NM_015506.3(MMACHC):c.520C>T (p.Leu174=) rs1298700969 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015506.3(MMACHC):c.570C>T (p.Ile190=) rs769162698 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015506.3(MMACHC):c.633C>T (p.Pro211=) rs577804554 0.00001
NM_015506.3(MMACHC):c.636G>A (p.Gln212=) rs774357624 0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=) rs369621922 0.00001
NM_015506.3(MMACHC):c.696C>T (p.Ala232=) rs767496391 0.00001
NM_015506.3(MMACHC):c.726G>A (p.Lys242=) rs750002717 0.00001
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=) rs755881820 0.00001
NM_015506.3(MMACHC):c.75C>A (p.Pro25=) rs749003802 0.00001
NM_015506.3(MMACHC):c.771C>G (p.Pro257=) rs376037114 0.00001
NM_015506.3(MMACHC):c.792C>T (p.Ser264=) rs1458150108 0.00001
NM_015506.3(MMACHC):c.804C>T (p.Ser268=) rs941778714 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_015506.3(MMACHC):c.828A>G (p.Pro276=) rs1288893138 0.00001
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556 0.00001
NM_015702.3(MMADHC):c.10-1G>C rs1573880177 0.00001
NM_015702.3(MMADHC):c.117G>A (p.Ser39=) rs1448387303 0.00001
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr) rs775175927 0.00001
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr) rs755472574 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.155-3C>T rs773403678 0.00001
NM_015702.3(MMADHC):c.237T>C (p.Gly79=) rs763521620 0.00001
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) rs760590651 0.00001
NM_015702.3(MMADHC):c.372+1G>A rs755561981 0.00001
NM_015702.3(MMADHC):c.372+7T>C rs368516017 0.00001
NM_015702.3(MMADHC):c.373-16T>C rs754844727 0.00001
NM_015702.3(MMADHC):c.373-8C>A rs766361763 0.00001
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly) rs1345924349 0.00001
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) rs756550492 0.00001
NM_015702.3(MMADHC):c.432C>G (p.Ala144=) rs1478523517 0.00001
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr) rs780889876 0.00001
NM_015702.3(MMADHC):c.466T>C (p.Leu156=) rs778778537 0.00001
NM_015702.3(MMADHC):c.561T>G (p.Thr187=) rs1282238457 0.00001
NM_015702.3(MMADHC):c.585T>C (p.Ile195=) rs757784250 0.00001
NM_015702.3(MMADHC):c.624T>C (p.Ala208=) rs1485998377 0.00001
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=) rs1427942673 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_015702.3(MMADHC):c.765T>C (p.Ser255=) rs376860199 0.00001
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser) rs766017009 0.00001
NM_015702.3(MMADHC):c.828A>G (p.Val276=) rs937318527 0.00001
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562 0.00001
NM_015702.3(MMADHC):c.9+12A>C rs570608507 0.00001
NM_016038.4(SBDS):c.13del (p.Thr5fs) rs772797192 0.00001
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998 0.00001
NM_016417.3(GLRX5):c.294A>G (p.Gln98=) rs121908584 0.00001
NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser) rs773847949 0.00001
NM_016417.3(GLRX5):c.383T>A (p.Met128Lys) rs891111781 0.00001
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser) rs765487627 0.00001
NM_017875.4(SLC25A38):c.*381G>C rs2041837298 0.00001
NM_017875.4(SLC25A38):c.-325G>C rs886058467 0.00001
NM_017875.4(SLC25A38):c.277-2A>C rs1198314410 0.00001
NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val) rs759315257 0.00001
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) rs765578993 0.00001
NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu) rs762562272 0.00001
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) rs764125735 0.00001
NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val) rs755205622 0.00001
NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg) rs1218815001 0.00001
NM_018062.4(FANCL):c.1033C>T (p.Leu345=) rs929280865 0.00001
NM_018062.4(FANCL):c.1065A>G (p.Ile355Met) rs147860433 0.00001
NM_018062.4(FANCL):c.1067T>G (p.Phe356Cys) rs773869051 0.00001
NM_018062.4(FANCL):c.1092+18C>A rs373854636 0.00001
NM_018062.4(FANCL):c.1092+8A>G rs1337458150 0.00001
NM_018062.4(FANCL):c.1093-19_1093-9dup rs771654902 0.00001
NM_018062.4(FANCL):c.1093-34_1093-16del rs760337641 0.00001
NM_018062.4(FANCL):c.117G>A (p.Arg39=) rs774840155 0.00001
NM_018062.4(FANCL):c.121G>T (p.Val41Leu) rs763523035 0.00001
NM_018062.4(FANCL):c.129T>G (p.Pro43=) rs746046267 0.00001
NM_018062.4(FANCL):c.155+4A>G rs1264877990 0.00001
NM_018062.4(FANCL):c.173A>G (p.Gln58Arg) rs1363031365 0.00001
NM_018062.4(FANCL):c.182C>G (p.Thr61Arg) rs1315405264 0.00001
NM_018062.4(FANCL):c.18G>C (p.Ala6=) rs759021953 0.00001
NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys) rs200306031 0.00001
NM_018062.4(FANCL):c.1A>T (p.Met1Leu) rs772037896 0.00001
NM_018062.4(FANCL):c.216+1G>T rs1205006300 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018062.4(FANCL):c.28C>G (p.Arg10Gly) rs146690827 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018062.4(FANCL):c.308C>A (p.Ala103Glu) rs746623168 0.00001
NM_018062.4(FANCL):c.319C>T (p.Pro107Ser) rs754028115 0.00001
NM_018062.4(FANCL):c.332A>G (p.Tyr111Cys) rs757683704 0.00001
NM_018062.4(FANCL):c.344T>C (p.Ile115Thr) rs1060501895 0.00001
NM_018062.4(FANCL):c.354A>G (p.Ile118Met) rs1371125510 0.00001
NM_018062.4(FANCL):c.355G>A (p.Gly119Arg) rs764393410 0.00001
NM_018062.4(FANCL):c.36C>T (p.Cys12=) rs756487177 0.00001
NM_018062.4(FANCL):c.372T>A (p.Asp124Glu) rs1032497636 0.00001
NM_018062.4(FANCL):c.381G>T (p.Val127=) rs1198509820 0.00001
NM_018062.4(FANCL):c.386C>T (p.Ala129Val) rs771495568 0.00001
NM_018062.4(FANCL):c.394T>C (p.Cys132Arg) rs748298862 0.00001
NM_018062.4(FANCL):c.39C>T (p.Pro13=) rs201708705 0.00001
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile) rs377429618 0.00001
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly) rs369876807 0.00001
NM_018062.4(FANCL):c.44T>C (p.Leu15Pro) rs1694519859 0.00001
NM_018062.4(FANCL):c.471+11C>T rs373493158 0.00001
NM_018062.4(FANCL):c.472T>G (p.Tyr158Asp) rs749411866 0.00001
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg) rs770063294 0.00001
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg) rs773768206 0.00001
NM_018062.4(FANCL):c.525C>T (p.Ala175=) rs757892335 0.00001
NM_018062.4(FANCL):c.541-3C>T rs759711454 0.00001
NM_018062.4(FANCL):c.554G>C (p.Ser185Thr) rs560205327 0.00001
NM_018062.4(FANCL):c.565C>T (p.Gln189Ter) rs1191111879 0.00001
NM_018062.4(FANCL):c.588A>T (p.Ser196=) rs1205526780 0.00001
NM_018062.4(FANCL):c.589C>T (p.Leu197=) rs779745877 0.00001
NM_018062.4(FANCL):c.598T>A (p.Phe200Ile) rs199660431 0.00001
NM_018062.4(FANCL):c.611T>C (p.Met204Thr) rs368900762 0.00001
NM_018062.4(FANCL):c.621C>T (p.Ile207=) rs374195602 0.00001
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe) rs765926796 0.00001
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln) rs761742545 0.00001
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly) rs778068203 0.00001
NM_018062.4(FANCL):c.691+3A>G rs1159902512 0.00001
NM_018062.4(FANCL):c.692-17A>G rs1281803537 0.00001
NM_018062.4(FANCL):c.692-2A>G rs1558737575 0.00001
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp) rs1558737546 0.00001
NM_018062.4(FANCL):c.6G>A (p.Ala2=) rs781559042 0.00001
NM_018062.4(FANCL):c.742C>T (p.Leu248Phe) rs1202806362 0.00001
NM_018062.4(FANCL):c.750G>A (p.Glu250=) rs1337676826 0.00001
NM_018062.4(FANCL):c.775+3A>T rs975755966 0.00001
NM_018062.4(FANCL):c.804C>T (p.Ser268=) rs1327227877 0.00001
NM_018062.4(FANCL):c.822-15T>C rs1282819073 0.00001
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr) rs1685420223 0.00001
NM_018062.4(FANCL):c.860T>G (p.Val287Gly) rs61757387 0.00001
NM_018062.4(FANCL):c.879A>T (p.Pro293=) rs1217731968 0.00001
NM_018062.4(FANCL):c.881C>T (p.Ala294Val) rs756695293 0.00001
NM_018062.4(FANCL):c.884G>A (p.Arg295His) rs375526911 0.00001
NM_018062.4(FANCL):c.894G>T (p.Leu298=) rs373364584 0.00001
NM_018062.4(FANCL):c.903+10A>G rs779834767 0.00001
NM_018062.4(FANCL):c.918T>C (p.Asp306=) rs1060504376 0.00001
NM_018062.4(FANCL):c.96+10C>T rs184741617 0.00001
NM_018062.4(FANCL):c.96+3A>T rs764782273 0.00001
NM_018062.4(FANCL):c.992A>C (p.Gln331Pro) rs746967598 0.00001
NM_018062.4(FANCL):c.993A>G (p.Gln331=) rs777378352 0.00001
NM_018124.4(RFWD3):c.1367G>C (p.Cys456Ser) rs773701779 0.00001
NM_018124.4(RFWD3):c.2205G>A (p.Ser735=) rs190386378 0.00001
NM_018368.4(LMBRD1):c.1017T>C (p.Ser339=) rs558926049 0.00001
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter) rs1380343985 0.00001
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln) rs772350306 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.1214C>G (p.Thr405Ser) rs561265847 0.00001
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys) rs1364347331 0.00001
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971 0.00001
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys) rs781535724 0.00001
NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=) rs1382933312 0.00001
NM_018368.4(LMBRD1):c.1417+9A>G rs763882735 0.00001
NM_018368.4(LMBRD1):c.1418-20T>A rs758519179 0.00001
NM_018368.4(LMBRD1):c.1510-19G>A rs1484305691 0.00001
NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=) rs771408766 0.00001
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys) rs982934588 0.00001
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val) rs765308443 0.00001
NM_018368.4(LMBRD1):c.247-4C>T rs1321930777 0.00001
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942 0.00001
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala) rs201773048 0.00001
NM_018368.4(LMBRD1):c.562+1G>A rs372279393 0.00001
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe) rs1562105981 0.00001
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro) rs1766557026 0.00001
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala) rs1297619412 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr) rs752377027 0.00001
NM_020207.7(ERCC6L2):c.1097G>A (p.Gly366Asp) rs140078259 0.00001
NM_020207.7(ERCC6L2):c.1555C>A (p.His519Asn) rs759609268 0.00001
NM_020207.7(ERCC6L2):c.3839A>C (p.Gln1280Pro) rs554013810 0.00001
NM_020897.3(HCN3):c.*1330G>T rs886045348 0.00001
NM_020897.3(HCN3):c.*832C>T rs917244300 0.00001
NM_020937.4(FANCM):c.1021T>C (p.Phe341Leu) rs1282418362 0.00001
NM_020937.4(FANCM):c.1032C>A (p.Asn344Lys) rs757823478 0.00001
NM_020937.4(FANCM):c.1035A>G (p.Pro345=) rs779231612 0.00001
NM_020937.4(FANCM):c.105T>C (p.Pro35=) rs1190089439 0.00001
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter) rs1156577591 0.00001
NM_020937.4(FANCM):c.106G>A (p.Gly36Ser) rs1416346759 0.00001
NM_020937.4(FANCM):c.1071C>T (p.Ile357=) rs780333012 0.00001
NM_020937.4(FANCM):c.1072G>A (p.Glu358Lys) rs746643140 0.00001
NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly) rs762845761 0.00001
NM_020937.4(FANCM):c.111C>T (p.Ser37=) rs763486658 0.00001
NM_020937.4(FANCM):c.1142C>T (p.Ser381Leu) rs765686151 0.00001
NM_020937.4(FANCM):c.1143A>G (p.Ser381=) rs750921743 0.00001
NM_020937.4(FANCM):c.114C>G (p.Ser38=) rs761652077 0.00001
NM_020937.4(FANCM):c.1178C>T (p.Thr393Ile) rs1029198668 0.00001
NM_020937.4(FANCM):c.117G>A (p.Lys39=) rs765275634 0.00001
NM_020937.4(FANCM):c.1183+8A>G rs538172189 0.00001
NM_020937.4(FANCM):c.1184-20C>A rs763504552 0.00001
NM_020937.4(FANCM):c.119C>G (p.Ala40Gly) rs750184645 0.00001
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter) rs1034818403 0.00001
NM_020937.4(FANCM):c.1251G>A (p.Glu417=) rs1238085525 0.00001
NM_020937.4(FANCM):c.1264C>T (p.Arg422Cys) rs150574630 0.00001
NM_020937.4(FANCM):c.1271G>A (p.Arg424His) rs139726733 0.00001
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr) rs763653491 0.00001
NM_020937.4(FANCM):c.1353G>T (p.Lys451Asn) rs771239660 0.00001
NM_020937.4(FANCM):c.1393A>T (p.Asn465Tyr) rs776166350 0.00001
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser) rs747572587 0.00001
NM_020937.4(FANCM):c.1397-1G>T rs1887394029 0.00001
NM_020937.4(FANCM):c.1397-20G>A rs767201661 0.00001
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) rs543029493 0.00001
NM_020937.4(FANCM):c.1439T>C (p.Met480Thr) rs776804525 0.00001
NM_020937.4(FANCM):c.1440G>C (p.Met480Ile) rs893380700 0.00001
NM_020937.4(FANCM):c.1462A>G (p.Ser488Gly) rs374988842 0.00001
NM_020937.4(FANCM):c.1493A>G (p.Gln498Arg) rs541543025 0.00001
NM_020937.4(FANCM):c.1509T>G (p.Ile503Met) rs764033368 0.00001
NM_020937.4(FANCM):c.1516A>G (p.Met506Val) rs758763305 0.00001
NM_020937.4(FANCM):c.1527C>T (p.Val509=) rs1199608395 0.00001
NM_020937.4(FANCM):c.1530C>T (p.Gly510=) rs367951081 0.00001
NM_020937.4(FANCM):c.1563C>G (p.Thr521=) rs775472302 0.00001
NM_020937.4(FANCM):c.1566G>T (p.Gln522His) rs763980494 0.00001
NM_020937.4(FANCM):c.1581+17T>C rs1276397814 0.00001
NM_020937.4(FANCM):c.1598G>A (p.Arg533His) rs1183879113 0.00001
NM_020937.4(FANCM):c.15A>G (p.Gln5=) rs374315790 0.00001
NM_020937.4(FANCM):c.1600G>A (p.Asp534Asn) rs1392286222 0.00001
NM_020937.4(FANCM):c.1604G>A (p.Gly535Asp) rs201076487 0.00001
NM_020937.4(FANCM):c.1616C>T (p.Thr539Met) rs758046969 0.00001
NM_020937.4(FANCM):c.1654A>G (p.Ile552Val) rs1416236626 0.00001
NM_020937.4(FANCM):c.1655T>C (p.Ile552Thr) rs200240871 0.00001
NM_020937.4(FANCM):c.1703T>C (p.Ile568Thr) rs764204806 0.00001
NM_020937.4(FANCM):c.1708C>T (p.Leu570Phe) rs1473955115 0.00001
NM_020937.4(FANCM):c.1717C>T (p.Arg573Ter) rs140760056 0.00001
NM_020937.4(FANCM):c.1735C>T (p.Arg579Cys) rs149698772 0.00001
NM_020937.4(FANCM):c.1753A>G (p.Ile585Val) rs772284228 0.00001
NM_020937.4(FANCM):c.1765C>T (p.Leu589Phe) rs764151493 0.00001
NM_020937.4(FANCM):c.1786C>T (p.Arg596Cys) rs765671208 0.00001
NM_020937.4(FANCM):c.1788+10G>C rs1203353298 0.00001
NM_020937.4(FANCM):c.1789-14A>G rs980289508 0.00001
NM_020937.4(FANCM):c.1805A>G (p.Gln602Arg) rs1343909660 0.00001
NM_020937.4(FANCM):c.1845C>T (p.Asn615=) rs770287146 0.00001
NM_020937.4(FANCM):c.1846A>G (p.Arg616Gly) rs763557682 0.00001
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter) rs374626826 0.00001
NM_020937.4(FANCM):c.1895G>A (p.Gly632Glu) rs757274359 0.00001
NM_020937.4(FANCM):c.190G>T (p.Ala64Ser) rs1015238529 0.00001
NM_020937.4(FANCM):c.1941T>C (p.Tyr647=) rs1280545288 0.00001
NM_020937.4(FANCM):c.1948G>A (p.Glu650Lys) rs763357840 0.00001
NM_020937.4(FANCM):c.1949A>C (p.Glu650Ala) rs771567101 0.00001
NM_020937.4(FANCM):c.1959T>C (p.Ser653=) rs760000633 0.00001
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter) rs903442271 0.00001
NM_020937.4(FANCM):c.1974A>C (p.Arg658=) rs1888039482 0.00001
NM_020937.4(FANCM):c.1994A>G (p.Tyr665Cys) rs148250143 0.00001
NM_020937.4(FANCM):c.2002+19T>C rs748316001 0.00001
NM_020937.4(FANCM):c.2002+5A>G rs1888042696 0.00001
NM_020937.4(FANCM):c.2003-16T>C rs750329568 0.00001
NM_020937.4(FANCM):c.2003-7C>T rs758398053 0.00001
NM_020937.4(FANCM):c.2005A>T (p.Met669Leu) rs1888274673 0.00001
NM_020937.4(FANCM):c.201G>T (p.Gln67His) rs761398438 0.00001
NM_020937.4(FANCM):c.2066A>G (p.Asn689Ser) rs1317308859 0.00001
NM_020937.4(FANCM):c.2073T>G (p.Leu691=) rs534278963 0.00001
NM_020937.4(FANCM):c.2079A>G (p.Arg693=) rs747434711 0.00001
NM_020937.4(FANCM):c.2096A>G (p.Glu699Gly) rs991105099 0.00001
NM_020937.4(FANCM):c.2163T>G (p.Ala721=) rs781479852 0.00001
NM_020937.4(FANCM):c.2177C>T (p.Thr726Ile) rs1171394901 0.00001
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg) rs765227168 0.00001
NM_020937.4(FANCM):c.2215T>C (p.Trp739Arg) rs1407263617 0.00001
NM_020937.4(FANCM):c.2236A>G (p.Thr746Ala) rs764033302 0.00001
NM_020937.4(FANCM):c.2244A>G (p.Gln748=) rs751605791 0.00001
NM_020937.4(FANCM):c.2261G>A (p.Arg754Gln) rs529256568 0.00001
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys) rs756870111 0.00001
NM_020937.4(FANCM):c.2275A>G (p.Ile759Val) rs1431873616 0.00001
NM_020937.4(FANCM):c.2316+12T>C rs764384464 0.00001
NM_020937.4(FANCM):c.2317-5T>C rs370111392 0.00001
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala) rs149856496 0.00001
NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr) rs753797551 0.00001
NM_020937.4(FANCM):c.235G>C (p.Ala79Pro) rs1885491442 0.00001
NM_020937.4(FANCM):c.2361G>A (p.Met787Ile) rs201921949 0.00001
NM_020937.4(FANCM):c.2385T>G (p.Ile795Met) rs769468991 0.00001
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala) rs144771929 0.00001
NM_020937.4(FANCM):c.2392A>G (p.Arg798Gly) rs772286894 0.00001
NM_020937.4(FANCM):c.2406T>C (p.Asn802=) rs1231624693 0.00001
NM_020937.4(FANCM):c.2423C>T (p.Thr808Ile) rs200194850 0.00001
NM_020937.4(FANCM):c.244C>T (p.Leu82=) rs746349291 0.00001
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp) rs765507230 0.00001
NM_020937.4(FANCM):c.246G>A (p.Leu82=) rs1885493418 0.00001
NM_020937.4(FANCM):c.2485G>T (p.Val829Leu) rs754426327 0.00001
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter) rs1383262366 0.00001
NM_020937.4(FANCM):c.2595G>A (p.Gln865=) rs1280478322 0.00001
NM_020937.4(FANCM):c.2602A>G (p.Lys868Glu) rs770342366 0.00001
NM_020937.4(FANCM):c.2608A>G (p.Asn870Asp) rs1453998176 0.00001
NM_020937.4(FANCM):c.2613T>G (p.Asn871Lys) rs1453404140 0.00001
NM_020937.4(FANCM):c.2616C>T (p.His872=) rs372803974 0.00001
NM_020937.4(FANCM):c.2618G>T (p.Gly873Val) rs766902093 0.00001
NM_020937.4(FANCM):c.2621T>C (p.Ile874Thr) rs774139592 0.00001
NM_020937.4(FANCM):c.2635G>C (p.Asp879His) rs375959944 0.00001
NM_020937.4(FANCM):c.2653A>G (p.Thr885Ala) rs1182429346 0.00001
NM_020937.4(FANCM):c.2672A>C (p.Gln891Pro) rs753820999 0.00001
NM_020937.4(FANCM):c.2692A>G (p.Lys898Glu) rs747219710 0.00001
NM_020937.4(FANCM):c.2696G>A (p.Arg899Lys) rs755241883 0.00001
NM_020937.4(FANCM):c.2700A>G (p.Thr900=) rs1594798013 0.00001
NM_020937.4(FANCM):c.2714A>T (p.Glu905Val) rs770155583 0.00001
NM_020937.4(FANCM):c.2715A>G (p.Glu905=) rs1230956702 0.00001
NM_020937.4(FANCM):c.2721T>G (p.Ala907=) rs150172333 0.00001
NM_020937.4(FANCM):c.2725A>G (p.Thr909Ala) rs1475086312 0.00001
NM_020937.4(FANCM):c.2745T>C (p.Asn915=) rs915093857 0.00001
NM_020937.4(FANCM):c.2750T>C (p.Ile917Thr) rs753772148 0.00001
NM_020937.4(FANCM):c.2752A>G (p.Lys918Glu) rs757244993 0.00001
NM_020937.4(FANCM):c.2755G>A (p.Glu919Lys) rs184770388 0.00001
NM_020937.4(FANCM):c.2759C>T (p.Pro920Leu) rs776256629 0.00001
NM_020937.4(FANCM):c.275G>A (p.Arg92Gln) rs1885496616 0.00001
NM_020937.4(FANCM):c.2774C>T (p.Thr925Ile) rs1227468338 0.00001
NM_020937.4(FANCM):c.2791A>G (p.Asn931Asp) rs142798313 0.00001
NM_020937.4(FANCM):c.2799C>T (p.Ser933=) rs1292603050 0.00001
NM_020937.4(FANCM):c.2807C>T (p.Ser936Leu) rs1594798166 0.00001
NM_020937.4(FANCM):c.281A>G (p.Tyr94Cys) rs1352722928 0.00001
NM_020937.4(FANCM):c.2831_2832insAATATTCAATTATATTATTACAT (p.Gly945fs) rs1888623566 0.00001
NM_020937.4(FANCM):c.2834G>A (p.Gly945Asp) rs1193165722 0.00001
NM_020937.4(FANCM):c.2843G>A (p.Ser948Asn) rs1040437114 0.00001
NM_020937.4(FANCM):c.2849A>G (p.Asn950Ser) rs775175323 0.00001
NM_020937.4(FANCM):c.2852A>G (p.Asp951Gly) rs760309916 0.00001
NM_020937.4(FANCM):c.2856A>G (p.Glu952=) rs1366592524 0.00001
NM_020937.4(FANCM):c.286C>T (p.Leu96=) rs1412746996 0.00001
NM_020937.4(FANCM):c.2871_2876del (p.Asn958_Leu959del) rs1888628927 0.00001
NM_020937.4(FANCM):c.2881C>T (p.Leu961Phe) rs1319257761 0.00001
NM_020937.4(FANCM):c.2898G>A (p.Glu966=) rs146050453 0.00001
NM_020937.4(FANCM):c.2922C>G (p.Asp974Glu) rs1888633712 0.00001
NM_020937.4(FANCM):c.2937T>C (p.Cys979=) rs1188507113 0.00001
NM_020937.4(FANCM):c.2962G>A (p.Ala988Thr) rs1454000944 0.00001
NM_020937.4(FANCM):c.2988T>C (p.Tyr996=) rs373971974 0.00001
NM_020937.4(FANCM):c.298C>G (p.Arg100Gly) rs1438436722 0.00001
NM_020937.4(FANCM):c.298C>T (p.Arg100Trp) rs1438436722 0.00001
NM_020937.4(FANCM):c.2999C>G (p.Pro1000Arg) rs751314954 0.00001
NM_020937.4(FANCM):c.3003C>T (p.Leu1001=) rs1177034125 0.00001
NM_020937.4(FANCM):c.3023A>C (p.Glu1008Ala) rs1420000591 0.00001
NM_020937.4(FANCM):c.3048A>C (p.Ala1016=) rs1024727528 0.00001
NM_020937.4(FANCM):c.3074G>A (p.Cys1025Tyr) rs908243528 0.00001
NM_020937.4(FANCM):c.3081G>A (p.Glu1027=) rs770803476 0.00001
NM_020937.4(FANCM):c.314G>T (p.Cys105Phe) rs955997534 0.00001
NM_020937.4(FANCM):c.3150A>G (p.Glu1050=) rs1311277085 0.00001
NM_020937.4(FANCM):c.315C>T (p.Cys105=) rs371888194 0.00001
NM_020937.4(FANCM):c.3175T>C (p.Tyr1059His) rs755723099 0.00001
NM_020937.4(FANCM):c.3176A>T (p.Tyr1059Phe) rs1888656410 0.00001
NM_020937.4(FANCM):c.3193T>G (p.Cys1065Gly) rs201836469 0.00001
NM_020937.4(FANCM):c.3212A>G (p.Asn1071Ser) rs1297760447 0.00001
NM_020937.4(FANCM):c.3276A>G (p.Glu1092=) rs1042757360 0.00001
NM_020937.4(FANCM):c.3293A>G (p.Asn1098Ser) rs372995836 0.00001
NM_020937.4(FANCM):c.3295C>T (p.Arg1099Cys) rs767815301 0.00001
NM_020937.4(FANCM):c.3308A>C (p.His1103Pro) rs191339110 0.00001
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala) rs376798467 0.00001
NM_020937.4(FANCM):c.3363T>G (p.Ser1121Arg) rs746805378 0.00001
NM_020937.4(FANCM):c.3417T>C (p.Asp1139=) rs759993342 0.00001
NM_020937.4(FANCM):c.3435C>T (p.Asp1145=) rs760913813 0.00001
NM_020937.4(FANCM):c.343C>T (p.Leu115=) rs1200564694 0.00001
NM_020937.4(FANCM):c.3441G>A (p.Val1147=) rs371637649 0.00001
NM_020937.4(FANCM):c.3468C>G (p.Ser1156Arg) rs756947100 0.00001
NM_020937.4(FANCM):c.3476T>C (p.Leu1159Ser) rs1045206208 0.00001
NM_020937.4(FANCM):c.3510G>A (p.Thr1170=) rs749416896 0.00001
NM_020937.4(FANCM):c.3550T>G (p.Leu1184Val) rs1331676656 0.00001
NM_020937.4(FANCM):c.3573A>G (p.Gln1191=) rs1307778741 0.00001
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His) rs751441742 0.00001
NM_020937.4(FANCM):c.3593C>G (p.Ala1198Gly) rs754961557 0.00001
NM_020937.4(FANCM):c.3611G>A (p.Arg1204His) rs867324948 0.00001
NM_020937.4(FANCM):c.364G>T (p.Ala122Ser) rs1885507119 0.00001
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe) rs201839320 0.00001
NM_020937.4(FANCM):c.3667T>G (p.Cys1223Gly) rs1888703962 0.00001
NM_020937.4(FANCM):c.366C>G (p.Ala122=) rs770311755 0.00001
NM_020937.4(FANCM):c.3704G>T (p.Gly1235Val) rs146490925 0.00001
NM_020937.4(FANCM):c.3705A>G (p.Gly1235=) rs755896402 0.00001
NM_020937.4(FANCM):c.3763C>A (p.Pro1255Thr) rs770651053 0.00001
NM_020937.4(FANCM):c.3828G>A (p.Ser1276=) rs755082451 0.00001
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=) rs188061266 0.00001
NM_020937.4(FANCM):c.3854A>G (p.His1285Arg) rs749696321 0.00001
NM_020937.4(FANCM):c.3887T>C (p.Ile1296Thr) rs760563906 0.00001
NM_020937.4(FANCM):c.3888C>A (p.Ile1296=) rs764040527 0.00001
NM_020937.4(FANCM):c.3889C>T (p.Pro1297Ser) rs753821216 0.00001
NM_020937.4(FANCM):c.3898G>A (p.Glu1300Lys) rs751795256 0.00001
NM_020937.4(FANCM):c.3921T>C (p.Tyr1307=) rs764339843 0.00001
NM_020937.4(FANCM):c.3960G>A (p.Leu1320=) rs745456931 0.00001
NM_020937.4(FANCM):c.3971G>A (p.Gly1324Asp) rs1888731038 0.00001
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs) rs757391108 0.00001
NM_020937.4(FANCM):c.4003_4004insG (p.Lys1335fs) rs1566766719 0.00001
NM_020937.4(FANCM):c.4047A>G (p.Ser1349=) rs772889740 0.00001
NM_020937.4(FANCM):c.4057A>G (p.Ile1353Val) rs759767076 0.00001
NM_020937.4(FANCM):c.4076A>G (p.Lys1359Arg) rs758862288 0.00001
NM_020937.4(FANCM):c.4098A>T (p.Glu1366Asp) rs550675560 0.00001
NM_020937.4(FANCM):c.4105A>G (p.Asn1369Asp) rs1248092760 0.00001
NM_020937.4(FANCM):c.4107C>A (p.Asn1369Lys) rs113664919 0.00001
NM_020937.4(FANCM):c.410T>C (p.Val137Ala) rs748823532 0.00001
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr) rs373590893 0.00001
NM_020937.4(FANCM):c.4189A>G (p.Met1397Val) rs376581960 0.00001
NM_020937.4(FANCM):c.4193A>G (p.Tyr1398Cys) rs534229547 0.00001
NM_020937.4(FANCM):c.4213T>G (p.Ser1405Ala) rs1412826290 0.00001
NM_020937.4(FANCM):c.422C>T (p.Ala141Val) rs774380823 0.00001
NM_020937.4(FANCM):c.4245C>T (p.Asn1415=) rs368936983 0.00001
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser) rs771875070 0.00001
NM_020937.4(FANCM):c.4311T>C (p.Ser1437=) rs1017827085 0.00001
NM_020937.4(FANCM):c.4322A>C (p.Gln1441Pro) rs768911217 0.00001
NM_020937.4(FANCM):c.4343C>T (p.Ser1448Phe) rs774526380 0.00001
NM_020937.4(FANCM):c.4359C>G (p.Val1453=) rs779903070 0.00001
NM_020937.4(FANCM):c.4375C>G (p.Pro1459Ala) rs1429932349 0.00001
NM_020937.4(FANCM):c.4387-12G>T rs776419214 0.00001
NM_020937.4(FANCM):c.4395A>G (p.Leu1465=) rs749970691 0.00001
NM_020937.4(FANCM):c.4401del (p.Ser1468fs) rs1405059699 0.00001
NM_020937.4(FANCM):c.4429C>A (p.Pro1477Thr) rs1373913163 0.00001
NM_020937.4(FANCM):c.4437A>C (p.Ser1479=) rs1889215260 0.00001
NM_020937.4(FANCM):c.4439A>G (p.Gln1480Arg) rs772095334 0.00001
NM_020937.4(FANCM):c.4449C>T (p.Asp1483=) rs1889215868 0.00001
NM_020937.4(FANCM):c.4452C>G (p.Phe1484Leu) rs143239291 0.00001
NM_020937.4(FANCM):c.4464C>T (p.Asn1488=) rs376583120 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_020937.4(FANCM):c.4504A>G (p.Ser1502Gly) rs779176062 0.00001
NM_020937.4(FANCM):c.4519G>A (p.Val1507Ile) rs945620719 0.00001
NM_020937.4(FANCM):c.4536A>G (p.Leu1512=) rs1340500564 0.00001
NM_020937.4(FANCM):c.4542T>C (p.Asp1514=) rs372272824 0.00001
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly) rs199514189 0.00001
NM_020937.4(FANCM):c.4574A>G (p.Tyr1525Cys) rs748721088 0.00001
NM_020937.4(FANCM):c.4574A>T (p.Tyr1525Phe) rs748721088 0.00001
NM_020937.4(FANCM):c.4575T>C (p.Tyr1525=) rs756538862 0.00001
NM_020937.4(FANCM):c.4599G>A (p.Glu1533=) rs770525500 0.00001
NM_020937.4(FANCM):c.4624T>C (p.Leu1542=) rs1394104664 0.00001
NM_020937.4(FANCM):c.4672G>C (p.Asp1558His) rs1251556461 0.00001
NM_020937.4(FANCM):c.4674T>C (p.Asp1558=) rs1264214406 0.00001
NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro) rs377410891 0.00001
NM_020937.4(FANCM):c.4690A>G (p.Ile1564Val) rs540558068 0.00001
NM_020937.4(FANCM):c.470T>A (p.Val157Glu) rs1165497144 0.00001
NM_020937.4(FANCM):c.4717A>G (p.Met1573Val) rs780976564 0.00001
NM_020937.4(FANCM):c.4727A>G (p.Asn1576Ser) rs748182153 0.00001
NM_020937.4(FANCM):c.4731G>A (p.Lys1577=) rs769405541 0.00001
NM_020937.4(FANCM):c.4762A>G (p.Ile1588Val) rs910499638 0.00001
NM_020937.4(FANCM):c.4793A>G (p.Asp1598Gly) rs1405769485 0.00001
NM_020937.4(FANCM):c.4798A>G (p.Thr1600Ala) rs779658679 0.00001
NM_020937.4(FANCM):c.479T>A (p.Ile160Asn) rs781618421 0.00001
NM_020937.4(FANCM):c.4820G>T (p.Cys1607Phe) rs769869730 0.00001
NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp) rs1232508556 0.00001
NM_020937.4(FANCM):c.4860A>G (p.Glu1620=) rs776303176 0.00001
NM_020937.4(FANCM):c.4871G>T (p.Cys1624Phe) rs1457271846 0.00001
NM_020937.4(FANCM):c.4908A>G (p.Ala1636=) rs1457220401 0.00001
NM_020937.4(FANCM):c.4913G>A (p.Ser1638Asn) rs776797107 0.00001
NM_020937.4(FANCM):c.4928C>T (p.Thr1643Ile) rs762187580 0.00001
NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg) rs1472981713 0.00001
NM_020937.4(FANCM):c.4951G>A (p.Glu1651Lys) rs752279370 0.00001
NM_020937.4(FANCM):c.5046T>C (p.Asp1682=) rs1302536129 0.00001
NM_020937.4(FANCM):c.5048A>G (p.Lys1683Arg) rs763454366 0.00001
NM_020937.4(FANCM):c.509-13C>T rs1383624464 0.00001
NM_020937.4(FANCM):c.5094C>T (p.Asn1698=) rs1042174034 0.00001
NM_020937.4(FANCM):c.5103G>A (p.Gln1701=) rs1160184503 0.00001
NM_020937.4(FANCM):c.5127T>C (p.Pro1709=) rs1157235486 0.00001
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met) rs371629950 0.00001
NM_020937.4(FANCM):c.5154G>A (p.Val1718=) rs775219071 0.00001
NM_020937.4(FANCM):c.5155C>T (p.Arg1719Cys) rs1444402627 0.00001
NM_020937.4(FANCM):c.5156G>A (p.Arg1719His) rs760421586 0.00001
NM_020937.4(FANCM):c.5204C>T (p.Ser1735Leu) rs112745068 0.00001
NM_020937.4(FANCM):c.5221dup (p.Thr1741fs) rs758498345 0.00001
NM_020937.4(FANCM):c.5228C>A (p.Ser1743Tyr) rs768392812 0.00001
NM_020937.4(FANCM):c.5229C>T (p.Ser1743=) rs1298918449 0.00001
NM_020937.4(FANCM):c.5230G>A (p.Glu1744Lys) rs776474104 0.00001
NM_020937.4(FANCM):c.5240A>G (p.Asp1747Gly) rs764718852 0.00001
NM_020937.4(FANCM):c.5258A>G (p.His1753Arg) rs371891604 0.00001
NM_020937.4(FANCM):c.5271G>A (p.Gln1757=) rs1193398969 0.00001
NM_020937.4(FANCM):c.5317A>G (p.Arg1773Gly) rs1356723831 0.00001
NM_020937.4(FANCM):c.5337G>T (p.Gln1779His) rs374822670 0.00001
NM_020937.4(FANCM):c.5342A>G (p.Asp1781Gly) rs752053357 0.00001
NM_020937.4(FANCM):c.5359G>T (p.Asp1787Tyr) rs1465506378 0.00001
NM_020937.4(FANCM):c.5397A>T (p.Arg1799Ser) rs759165724 0.00001
NM_020937.4(FANCM):c.5400A>G (p.Pro1800=) rs1220530493 0.00001
NM_020937.4(FANCM):c.5413A>G (p.Thr1805Ala) rs1195945183 0.00001
NM_020937.4(FANCM):c.5435C>T (p.Pro1812Leu) rs200095329 0.00001
NM_020937.4(FANCM):c.5474A>G (p.His1825Arg) rs751719012 0.00001
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp) rs374303319 0.00001
NM_020937.4(FANCM):c.5509C>T (p.Leu1837=) rs1890055603 0.00001
NM_020937.4(FANCM):c.5530del (p.Gln1844fs) rs778451008 0.00001
NM_020937.4(FANCM):c.5533G>A (p.Val1845Ile) rs775021812 0.00001
NM_020937.4(FANCM):c.5568C>T (p.Ile1856=) rs771670832 0.00001
NM_020937.4(FANCM):c.5578C>T (p.Arg1860Cys) rs139996409 0.00001
NM_020937.4(FANCM):c.5618A>G (p.Asn1873Ser) rs1890063869 0.00001
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter) rs1379375089 0.00001
NM_020937.4(FANCM):c.565C>G (p.Leu189Val) rs149010517 0.00001
NM_020937.4(FANCM):c.5661G>A (p.Leu1887=) rs754173937 0.00001
NM_020937.4(FANCM):c.5681T>C (p.Ile1894Thr) rs1308170151 0.00001
NM_020937.4(FANCM):c.5702A>G (p.Asp1901Gly) rs1164461453 0.00001
NM_020937.4(FANCM):c.5716+12T>G rs1890072677 0.00001
NM_020937.4(FANCM):c.5717-4T>A rs781258517 0.00001
NM_020937.4(FANCM):c.5736T>A (p.Phe1912Leu) rs755903696 0.00001
NM_020937.4(FANCM):c.5754T>C (p.Tyr1918=) rs772310452 0.00001
NM_020937.4(FANCM):c.575A>T (p.Gln192Leu) rs768031730 0.00001
NM_020937.4(FANCM):c.5782G>A (p.Ala1928Thr) rs1890206013 0.00001
NM_020937.4(FANCM):c.5792G>A (p.Arg1931Gln) rs773595869 0.00001
NM_020937.4(FANCM):c.5824G>A (p.Ala1942Thr) rs759078220 0.00001
NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn) rs1060501893 0.00001
NM_020937.4(FANCM):c.5855A>G (p.Glu1952Gly) rs1594486115 0.00001
NM_020937.4(FANCM):c.5859A>G (p.Gln1953=) rs1162450469 0.00001
NM_020937.4(FANCM):c.5917C>T (p.Leu1973Phe) rs1890214915 0.00001
NM_020937.4(FANCM):c.6009-18G>T rs774599483 0.00001
NM_020937.4(FANCM):c.6020A>G (p.Glu2007Gly) rs1350057442 0.00001
NM_020937.4(FANCM):c.6075T>C (p.Tyr2025=) rs180764458 0.00001
NM_020937.4(FANCM):c.6129A>T (p.Arg2043Ser) rs772632630 0.00001
NM_020937.4(FANCM):c.635T>A (p.Val212Asp) rs1277508701 0.00001
NM_020937.4(FANCM):c.650A>G (p.His217Arg) rs532404406 0.00001
NM_020937.4(FANCM):c.673T>C (p.Tyr225His) rs771120876 0.00001
NM_020937.4(FANCM):c.679C>T (p.Gln227Ter) rs1209536013 0.00001
NM_020937.4(FANCM):c.682-7T>C rs1012042292 0.00001
NM_020937.4(FANCM):c.693A>G (p.Glu231=) rs146597866 0.00001
NM_020937.4(FANCM):c.6C>T (p.Ser2=) rs1215540624 0.00001
NM_020937.4(FANCM):c.717T>C (p.Phe239=) rs1365220972 0.00001
NM_020937.4(FANCM):c.768A>G (p.Gln256=) rs1886616759 0.00001
NM_020937.4(FANCM):c.809G>A (p.Arg270His) rs759079934 0.00001
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys) rs767396394 0.00001
NM_020937.4(FANCM):c.824C>T (p.Pro275Leu) rs1436183493 0.00001
NM_020937.4(FANCM):c.868A>G (p.Ile290Val) rs780426259 0.00001
NM_020937.4(FANCM):c.882T>G (p.Gly294=) rs1298378119 0.00001
NM_020937.4(FANCM):c.898A>G (p.Ile300Val) rs749659002 0.00001
NM_020937.4(FANCM):c.925G>A (p.Glu309Lys) rs778377621 0.00001
NM_020937.4(FANCM):c.938G>A (p.Arg313His) rs767487612 0.00001
NM_020937.4(FANCM):c.946A>G (p.Ile316Val) rs1401549421 0.00001
NM_020937.4(FANCM):c.963G>C (p.Leu321Phe) rs761891998 0.00001
NM_020937.4(FANCM):c.975T>C (p.Asp325=) rs765094256 0.00001
NM_020937.4(FANCM):c.980C>T (p.Pro327Leu) rs879849364 0.00001
NM_020937.4(FANCM):c.985C>G (p.Leu329Val) rs750311376 0.00001
NM_020937.4(FANCM):c.98A>G (p.Gln33Arg) rs759911498 0.00001
NM_021922.3(FANCE):c.*401G>C rs886061333 0.00001
NM_021922.3(FANCE):c.1017C>T (p.Leu339=) rs1277513595 0.00001
NM_021922.3(FANCE):c.1034G>A (p.Cys345Tyr) rs1007410805 0.00001
NM_021922.3(FANCE):c.104C>T (p.Ala35Val) rs570498238 0.00001
NM_021922.3(FANCE):c.1053T>G (p.Leu351=) rs755165473 0.00001
NM_021922.3(FANCE):c.1112G>A (p.Arg371Gln) rs1351881430 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe) rs1236565765 0.00001
NM_021922.3(FANCE):c.1142G>A (p.Arg381His) rs374232967 0.00001
NM_021922.3(FANCE):c.1221C>T (p.Leu407=) rs752130850 0.00001
NM_021922.3(FANCE):c.1237+20C>G rs755688409 0.00001
NM_021922.3(FANCE):c.1238-1G>C rs1767507722 0.00001
NM_021922.3(FANCE):c.128G>A (p.Gly43Asp) rs1767154137 0.00001
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp) rs886061331 0.00001
NM_021922.3(FANCE):c.1309A>G (p.Met437Val) rs746770705 0.00001
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro) rs745685973 0.00001
NM_021922.3(FANCE):c.1356G>C (p.Leu452Phe) rs1488514330 0.00001
NM_021922.3(FANCE):c.136G>T (p.Val46Leu) rs1366722396 0.00001
NM_021922.3(FANCE):c.1384-14C>T rs558453150 0.00001
NM_021922.3(FANCE):c.1384-5T>C rs777064305 0.00001
NM_021922.3(FANCE):c.1395C>T (p.Thr465=) rs770219946 0.00001
NM_021922.3(FANCE):c.148C>T (p.Leu50=) rs1278828834 0.00001
NM_021922.3(FANCE):c.1501C>G (p.Gln501Glu) rs746321808 0.00001
NM_021922.3(FANCE):c.1509+1G>A rs745877509 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.1512C>A (p.Ile504=) rs760228323 0.00001
NM_021922.3(FANCE):c.1517A>G (p.Glu506Gly) rs766291860 0.00001
NM_021922.3(FANCE):c.1520C>T (p.Thr507Ile) rs1413425638 0.00001
NM_021922.3(FANCE):c.1525A>C (p.Arg509=) rs1293230097 0.00001
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu) rs1256798501 0.00001
NM_021922.3(FANCE):c.1581G>A (p.Leu527=) rs757384407 0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) rs749697038 0.00001
NM_021922.3(FANCE):c.15C>T (p.Asp5=) rs1298974698 0.00001
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser) rs890865684 0.00001
NM_021922.3(FANCE):c.216G>T (p.Pro72=) rs886061328 0.00001
NM_021922.3(FANCE):c.248+1del rs1767163932 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln) rs369035099 0.00001
NM_021922.3(FANCE):c.297del (p.Met99fs) rs754850404 0.00001
NM_021922.3(FANCE):c.324G>A (p.Ser108=) rs762826105 0.00001
NM_021922.3(FANCE):c.327G>C (p.Leu109=) rs1767304773 0.00001
NM_021922.3(FANCE):c.328C>T (p.Pro110Ser) rs763968547 0.00001
NM_021922.3(FANCE):c.330G>A (p.Pro110=) rs757051494 0.00001
NM_021922.3(FANCE):c.338G>C (p.Gly113Ala) rs780304950 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_021922.3(FANCE):c.365A>T (p.Gln122Leu) rs1554121253 0.00001
NM_021922.3(FANCE):c.396G>T (p.Trp132Cys) rs866005940 0.00001
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys) rs181761362 0.00001
NM_021922.3(FANCE):c.401G>A (p.Arg134His) rs774939689 0.00001
NM_021922.3(FANCE):c.436G>T (p.Val146Leu) rs755204532 0.00001
NM_021922.3(FANCE):c.449T>C (p.Met150Thr) rs752797466 0.00001
NM_021922.3(FANCE):c.466C>T (p.Leu156=) rs747537380 0.00001
NM_021922.3(FANCE):c.480C>T (p.Cys160=) rs45509302 0.00001
NM_021922.3(FANCE):c.495A>G (p.Gln165=) rs781480072 0.00001
NM_021922.3(FANCE):c.501A>G (p.Leu167=) rs769404523 0.00001
NM_021922.3(FANCE):c.502T>C (p.Cys168Arg) rs370057221 0.00001
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp) rs748817910 0.00001
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp) rs764017469 0.00001
NM_021922.3(FANCE):c.535A>C (p.Lys179Gln) rs751676807 0.00001
NM_021922.3(FANCE):c.540C>T (p.Ser180=) rs781691272 0.00001
NM_021922.3(FANCE):c.599G>A (p.Arg200His) rs150278839 0.00001
NM_021922.3(FANCE):c.621G>A (p.Glu207=) rs1195525206 0.00001
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu) rs370659315 0.00001
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln) rs777849670 0.00001
NM_021922.3(FANCE):c.685C>T (p.His229Tyr) rs142737128 0.00001
NM_021922.3(FANCE):c.693G>A (p.Lys231=) rs202207657 0.00001
NM_021922.3(FANCE):c.744A>G (p.Ala248=) rs774688796 0.00001
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr) rs766901564 0.00001
NM_021922.3(FANCE):c.786C>T (p.Gly262=) rs755421532 0.00001
NM_021922.3(FANCE):c.792C>T (p.Asp264=) rs758132363 0.00001
NM_021922.3(FANCE):c.798G>A (p.Ser266=) rs746542545 0.00001
NM_021922.3(FANCE):c.821T>C (p.Leu274Pro) rs376591931 0.00001
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe) rs886061329 0.00001
NM_021922.3(FANCE):c.938T>C (p.Leu313Pro) rs1767415225 0.00001
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter) rs760150539 0.00001
NM_021922.3(FANCE):c.951C>T (p.His317=) rs753841588 0.00001
NM_021922.3(FANCE):c.969+16T>G rs780283194 0.00001
NM_021922.3(FANCE):c.970-18C>G rs1376629458 0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) rs779336261 0.00001
NM_021922.3(FANCE):c.993G>A (p.Leu331=) rs1358873070 0.00001
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro) rs770592868 0.00001
NM_021922.3(FANCE):c.999C>T (p.Leu333=) rs776082827 0.00001
NM_022725.4(FANCF):c.*1190C>A rs750376328 0.00001
NM_022725.4(FANCF):c.*1632G>C rs886048150 0.00001
NM_022725.4(FANCF):c.*328C>T rs964106425 0.00001
NM_022725.4(FANCF):c.*565A>G rs886048155 0.00001
NM_022725.4(FANCF):c.*782A>G rs949488113 0.00001
NM_022725.4(FANCF):c.1026T>C (p.Pro342=) rs745879868 0.00001
NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe) rs754545069 0.00001
NM_022725.4(FANCF):c.1060C>T (p.Leu354Phe) rs1858614394 0.00001
NM_022725.4(FANCF):c.1078A>G (p.Arg360Gly) rs1357749824 0.00001
NM_022725.4(FANCF):c.1114A>G (p.Ser372Gly) rs760590516 0.00001
NM_022725.4(FANCF):c.116G>A (p.Arg39His) rs778953394 0.00001
NM_022725.4(FANCF):c.128A>C (p.His43Pro) rs761221734 0.00001
NM_022725.4(FANCF):c.133C>T (p.His45Tyr) rs753116878 0.00001
NM_022725.4(FANCF):c.13C>T (p.Leu5=) rs778821124 0.00001
NM_022725.4(FANCF):c.14T>C (p.Leu5Pro) rs1159900858 0.00001
NM_022725.4(FANCF):c.166A>G (p.Thr56Ala) rs772736775 0.00001
NM_022725.4(FANCF):c.182G>T (p.Arg61Leu) rs779046357 0.00001
NM_022725.4(FANCF):c.189C>G (p.His63Gln) rs1014150752 0.00001
NM_022725.4(FANCF):c.19C>G (p.His7Asp) rs749273752 0.00001
NM_022725.4(FANCF):c.201G>A (p.Arg67=) rs765970178 0.00001
NM_022725.4(FANCF):c.210C>T (p.Gly70=) rs769740744 0.00001
NM_022725.4(FANCF):c.22C>T (p.Leu8=) rs1181623769 0.00001
NM_022725.4(FANCF):c.232C>A (p.Pro78Thr) rs554712164 0.00001
NM_022725.4(FANCF):c.233C>T (p.Pro78Leu) rs928361745 0.00001
NM_022725.4(FANCF):c.24G>C (p.Leu8=) rs1035401874 0.00001
NM_022725.4(FANCF):c.251A>G (p.Gln84Arg) rs756488831 0.00001
NM_022725.4(FANCF):c.2T>G (p.Met1Arg) rs745495865 0.00001
NM_022725.4(FANCF):c.332T>C (p.Leu111Pro) rs373385251 0.00001
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg) rs757993614 0.00001
NM_022725.4(FANCF):c.356C>T (p.Pro119Leu) rs760472320 0.00001
NM_022725.4(FANCF):c.380A>G (p.Glu127Gly) rs1216924776 0.00001
NM_022725.4(FANCF):c.384A>C (p.Thr128=) rs200307118 0.00001
NM_022725.4(FANCF):c.436C>G (p.Leu146Val) rs779428484 0.00001
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp) rs370979205 0.00001
NM_022725.4(FANCF):c.469C>T (p.Leu157Phe) rs1060501870 0.00001
NM_022725.4(FANCF):c.580G>A (p.Glu194Lys) rs893075597 0.00001
NM_022725.4(FANCF):c.583C>A (p.Arg195Ser) rs1231820160 0.00001
NM_022725.4(FANCF):c.640T>C (p.Leu214=) rs773556058 0.00001
NM_022725.4(FANCF):c.675C>T (p.Gly225=) rs767689033 0.00001
NM_022725.4(FANCF):c.680A>G (p.His227Arg) rs1248152779 0.00001
NM_022725.4(FANCF):c.690del (p.Gly231fs) rs747622521 0.00001
NM_022725.4(FANCF):c.699G>A (p.Gly233=) rs1565055031 0.00001
NM_022725.4(FANCF):c.705A>C (p.Gln235His) rs768107677 0.00001
NM_022725.4(FANCF):c.729G>A (p.Gly243=) rs778844305 0.00001
NM_022725.4(FANCF):c.807G>A (p.Ala269=) rs754312601 0.00001
NM_022725.4(FANCF):c.812C>T (p.Ser271Phe) rs1417824608 0.00001
NM_022725.4(FANCF):c.83C>G (p.Pro28Arg) rs374063561 0.00001
NM_022725.4(FANCF):c.849A>C (p.Gln283His) rs146848948 0.00001
NM_022725.4(FANCF):c.84C>A (p.Pro28=) rs771462007 0.00001
NM_022725.4(FANCF):c.877A>G (p.Ile293Val) rs780747014 0.00001
NM_022725.4(FANCF):c.907C>T (p.Pro303Ser) rs199717587 0.00001
NM_022725.4(FANCF):c.927T>C (p.Asn309=) rs200073415 0.00001
NM_022725.4(FANCF):c.936A>T (p.Gln312His) rs371631248 0.00001
NM_022725.4(FANCF):c.984C>T (p.Ala328=) rs1858616188 0.00001
NM_022725.4(FANCF):c.993C>G (p.Thr331=) rs751274756 0.00001
NM_024675.4(PALB2):c.-149G>A rs886051832 0.00001
NM_024675.4(PALB2):c.-37C>T rs1403573232 0.00001
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly) rs876659751 0.00001
NM_024675.4(PALB2):c.1104T>A (p.Asn368Lys) rs1348407391 0.00001
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro) rs1358484245 0.00001
NM_024675.4(PALB2):c.113C>T (p.Ala38Val) rs371875379 0.00001
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) rs515726063 0.00001
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala) rs148102335 0.00001
NM_024675.4(PALB2):c.1164T>C (p.Pro388=) rs1205215998 0.00001
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg) rs765898856 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu) rs765125459 0.00001
NM_024675.4(PALB2):c.1348A>C (p.Asn450His) rs62625274 0.00001
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser) rs587781824 0.00001
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg) rs768482110 0.00001
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp) rs786203176 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.1611G>A (p.Ser537=) rs730881874 0.00001
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs) rs786203346 0.00001
NM_024675.4(PALB2):c.1628A>C (p.Lys543Thr) rs370468259 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys) rs746582620 0.00001
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile) rs587780207 0.00001
NM_024675.4(PALB2):c.1759G>A (p.Ala587Thr) rs1060502733 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn) rs730881885 0.00001
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu) rs761478794 0.00001
NM_024675.4(PALB2):c.2096C>G (p.Ser699Cys) rs780397699 0.00001
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met) rs759024828 0.00001
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro) rs765942523 0.00001
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala) rs879254051 0.00001
NM_024675.4(PALB2):c.2277A>G (p.Gln759=) rs786202524 0.00001
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser) rs786203296 0.00001
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr) rs786203608 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe) rs149836639 0.00001
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu) rs774502617 0.00001
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu) rs750650768 0.00001
NM_024675.4(PALB2):c.2587-12C>T rs1266683395 0.00001
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) rs878855111 0.00001
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val) rs533814557 0.00001
NM_024675.4(PALB2):c.2784G>A (p.Val928=) rs763411245 0.00001
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val) rs778602038 0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) rs515726103 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) rs786204248 0.00001
NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu) rs1418709183 0.00001
NM_024675.4(PALB2):c.2985A>T (p.Ala995=) rs786202892 0.00001
NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser) rs764669864 0.00001
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu) rs1417779335 0.00001
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr) rs746872839 0.00001
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) rs756906403 0.00001
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala) rs377713277 0.00001
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) rs515726108 0.00001
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg) rs202222149 0.00001
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) rs864622193 0.00001
NM_024675.4(PALB2):c.3350+11A>G rs515726114 0.00001
NM_024675.4(PALB2):c.3350+16T>G rs515726115 0.00001
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=) rs1282821765 0.00001
NM_024675.4(PALB2):c.3451C>T (p.Leu1151Phe) rs786203462 0.00001
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) rs773829275 0.00001
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val) rs863224788 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.37G>A (p.Glu13Lys) rs373287455 0.00001
NM_024675.4(PALB2):c.395del (p.Val132fs) rs180177085 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_024675.4(PALB2):c.541G>C (p.Glu181Gln) rs864622280 0.00001
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr) rs757567654 0.00001
NM_024675.4(PALB2):c.735G>A (p.Ala245=) rs371612049 0.00001
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala) rs786203040 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys) rs515726127 0.00001
NM_024675.4(PALB2):c.828C>T (p.His276=) rs911713488 0.00001
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln) rs200843485 0.00001
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) rs730881882 0.00001
NM_025215.6(PUS1):c.*192T>C rs930371689 0.00001
NM_025215.6(PUS1):c.-80G>A rs1215451501 0.00001
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) rs886049093 0.00001
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln) rs146103500 0.00001
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg) rs545204877 0.00001
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln) rs745345996 0.00001
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314 0.00001
NM_025215.6(PUS1):c.725C>T (p.Thr242Met) rs886049092 0.00001
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys) rs573837941 0.00001
NM_025215.6(PUS1):c.966G>A (p.Lys322=) rs746905159 0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met) rs1156671661 0.00001
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp) rs1034430613 0.00001
NM_030943.4(AMN):c.108G>C (p.Trp36Cys) rs199835580 0.00001
NM_030943.4(AMN):c.1200T>C (p.Ala400=) rs1410658337 0.00001
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
NM_030943.4(AMN):c.207+9G>A rs765056352 0.00001
NM_030943.4(AMN):c.296-10T>C rs1229295738 0.00001
NM_030943.4(AMN):c.296-3C>T rs764763091 0.00001
NM_030943.4(AMN):c.356G>T (p.Arg119Leu) rs533436439 0.00001
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450 0.00001
NM_030943.4(AMN):c.760+10C>T rs1312771036 0.00001
NM_030943.4(AMN):c.790G>A (p.Ala264Thr) rs1450455717 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_030943.4(AMN):c.969G>A (p.Arg323=) rs899760936 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.*1239C>A rs1042958451 0.00001
NM_032043.3(BRIP1):c.*1908T>C rs1264916802 0.00001
NM_032043.3(BRIP1):c.*2522A>G rs886053207 0.00001
NM_032043.3(BRIP1):c.*339G>C rs886053212 0.00001
NM_032043.3(BRIP1):c.*3479A>G rs573351550 0.00001
NM_032043.3(BRIP1):c.*3580T>A rs372023591 0.00001
NM_032043.3(BRIP1):c.*3617T>C rs886053198 0.00001
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.1023C>T (p.Val341=) rs957014406 0.00001
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg) rs373104267 0.00001
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His) rs730881632 0.00001
NM_032043.3(BRIP1):c.1055A>G (p.Tyr352Cys) rs762417690 0.00001
NM_032043.3(BRIP1):c.1057T>C (p.Tyr353His) rs1567831780 0.00001
NM_032043.3(BRIP1):c.1059C>T (p.Tyr353=) rs864622375 0.00001
NM_032043.3(BRIP1):c.1061C>T (p.Thr354Ile) rs776939714 0.00001
NM_032043.3(BRIP1):c.1065C>G (p.Ala355=) rs1222801209 0.00001
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633 0.00001
NM_032043.3(BRIP1):c.1071A>G (p.Glu357=) rs761017296 0.00001
NM_032043.3(BRIP1):c.1074A>C (p.Leu358=) rs771682192 0.00001
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met) rs730881634 0.00001
NM_032043.3(BRIP1):c.10A>G (p.Met4Val) rs45512093 0.00001
NM_032043.3(BRIP1):c.1105T>C (p.Tyr369His) rs587781325 0.00001
NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser) rs777511615 0.00001
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe) rs786202637 0.00001
NM_032043.3(BRIP1):c.1117C>T (p.Leu373=) rs755992778 0.00001
NM_032043.3(BRIP1):c.1141-4A>G rs1226658018 0.00001
NM_032043.3(BRIP1):c.1152T>C (p.Asn384=) rs1055794932 0.00001
NM_032043.3(BRIP1):c.1184C>A (p.Ala395Asp) rs778992385 0.00001
NM_032043.3(BRIP1):c.1187A>G (p.His396Arg) rs996493095 0.00001
NM_032043.3(BRIP1):c.1192A>G (p.Ile398Val) rs786203967 0.00001
NM_032043.3(BRIP1):c.1194C>T (p.Ile398=) rs757427498 0.00001
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys) rs587782816 0.00001
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr) rs764711572 0.00001
NM_032043.3(BRIP1):c.1202G>A (p.Cys401Tyr) rs1340018456 0.00001
NM_032043.3(BRIP1):c.1208G>A (p.Arg403Gln) rs786202780 0.00001
NM_032043.3(BRIP1):c.120A>G (p.Gln40=) rs878855136 0.00001
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser) rs1060501747 0.00001
NM_032043.3(BRIP1):c.1217C>T (p.Ala406Val) rs767872861 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032043.3(BRIP1):c.1247G>A (p.Arg416Gln) rs772570870 0.00001
NM_032043.3(BRIP1):c.1256G>A (p.Arg419Gln) rs748105919 0.00001
NM_032043.3(BRIP1):c.1266A>G (p.Leu422=) rs1484320639 0.00001
NM_032043.3(BRIP1):c.1268A>G (p.Asp423Gly) rs746778889 0.00001
NM_032043.3(BRIP1):c.1283A>G (p.Asn428Ser) rs779237423 0.00001
NM_032043.3(BRIP1):c.1286A>C (p.Asn429Thr) rs587781463 0.00001
NM_032043.3(BRIP1):c.1297A>G (p.Lys433Glu) rs2077947326 0.00001
NM_032043.3(BRIP1):c.1304A>G (p.His435Arg) rs730881636 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_032043.3(BRIP1):c.1316G>A (p.Arg439Gln) rs753214212 0.00001
NM_032043.3(BRIP1):c.1321G>A (p.Val441Met) rs1060501782 0.00001
NM_032043.3(BRIP1):c.1322T>C (p.Val441Ala) rs1458068665 0.00001
NM_032043.3(BRIP1):c.1332C>T (p.Ser444=) rs200581792 0.00001
NM_032043.3(BRIP1):c.1340+17A>G rs1450290454 0.00001
NM_032043.3(BRIP1):c.1341-12A>G rs1441257544 0.00001
NM_032043.3(BRIP1):c.134A>G (p.Glu45Gly) rs2078950725 0.00001
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr) rs587780227 0.00001
NM_032043.3(BRIP1):c.1361A>T (p.Glu454Val) rs769918040 0.00001
NM_032043.3(BRIP1):c.1363T>A (p.Tyr455Asn) rs587780826 0.00001
NM_032043.3(BRIP1):c.1369G>C (p.Val457Leu) rs748221377 0.00001
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly) rs752052351 0.00001
NM_032043.3(BRIP1):c.143C>A (p.Thr48Lys) rs755317452 0.00001
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys) rs587780229 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met) rs587780230 0.00001
NM_032043.3(BRIP1):c.1473+19C>T rs201603389 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.1476A>T (p.Gly492=) rs1398626535 0.00001
NM_032043.3(BRIP1):c.1483T>C (p.Ser495Pro) rs1555603617 0.00001
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly) rs1555603565 0.00001
NM_032043.3(BRIP1):c.1542A>G (p.Arg514=) rs779454200 0.00001
NM_032043.3(BRIP1):c.1571A>G (p.Gln524Arg) rs587781726 0.00001
NM_032043.3(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299 0.00001
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val) rs876658383 0.00001
NM_032043.3(BRIP1):c.1594dup (p.Met532fs) rs1339743866 0.00001
NM_032043.3(BRIP1):c.1595T>C (p.Met532Thr) rs1179705368 0.00001
NM_032043.3(BRIP1):c.1607A>G (p.Tyr536Cys) rs1060501752 0.00001
NM_032043.3(BRIP1):c.1628+11A>G rs1064793459 0.00001
NM_032043.3(BRIP1):c.1628+18G>C rs1005163267 0.00001
NM_032043.3(BRIP1):c.1628+20A>G rs200292462 0.00001
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731 0.00001
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met) rs587782254 0.00001
NM_032043.3(BRIP1):c.1651G>A (p.Ala551Thr) rs766302517 0.00001
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe) rs1375911072 0.00001
NM_032043.3(BRIP1):c.1672T>C (p.Trp558Arg) rs767648925 0.00001
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val) rs45533636 0.00001
NM_032043.3(BRIP1):c.1696G>A (p.Asp566Asn) rs1289102059 0.00001
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys) rs763458922 0.00001
NM_032043.3(BRIP1):c.170T>G (p.Leu57Arg) rs1435822764 0.00001
NM_032043.3(BRIP1):c.1710G>A (p.Leu570=) rs370087045 0.00001
NM_032043.3(BRIP1):c.1717C>G (p.Leu573Val) rs786202587 0.00001
NM_032043.3(BRIP1):c.1730A>T (p.Lys577Met) rs1411869768 0.00001
NM_032043.3(BRIP1):c.1731G>A (p.Lys577=) rs587780829 0.00001
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133 0.00001
NM_032043.3(BRIP1):c.1748A>G (p.Lys583Arg) rs876658547 0.00001
NM_032043.3(BRIP1):c.1752T>G (p.Thr584=) rs778774207 0.00001
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068 0.00001
NM_032043.3(BRIP1):c.1771T>A (p.Phe591Ile) rs876661057 0.00001
NM_032043.3(BRIP1):c.1794+1G>A rs766516963 0.00001
NM_032043.3(BRIP1):c.1794+1G>C rs766516963 0.00001
NM_032043.3(BRIP1):c.1795-7C>G rs760326491 0.00001
NM_032043.3(BRIP1):c.1795-9T>G rs777006706 0.00001
NM_032043.3(BRIP1):c.1797C>G (p.Ala599=) rs771672834 0.00001
NM_032043.3(BRIP1):c.1800T>G (p.Phe600Leu) rs375625993 0.00001
NM_032043.3(BRIP1):c.1801T>G (p.Ser601Ala) rs1317946589 0.00001
NM_032043.3(BRIP1):c.1804G>T (p.Asp602Tyr) rs770750488 0.00001
NM_032043.3(BRIP1):c.1838C>G (p.Thr613Arg) rs864622345 0.00001
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040 0.00001
NM_032043.3(BRIP1):c.1903C>A (p.Leu635Met) rs754280136 0.00001
NM_032043.3(BRIP1):c.1935+14T>G rs773754230 0.00001
NM_032043.3(BRIP1):c.1935+15T>C rs796483567 0.00001
NM_032043.3(BRIP1):c.1935G>C (p.Gln645His) rs1254051324 0.00001
NM_032043.3(BRIP1):c.1936-7A>T rs1427111542 0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.1942G>A (p.Val648Ile) rs780475484 0.00001
NM_032043.3(BRIP1):c.1952T>C (p.Ile651Thr) rs757305097 0.00001
NM_032043.3(BRIP1):c.1969G>C (p.Gly657Arg) rs1051619247 0.00001
NM_032043.3(BRIP1):c.1981T>C (p.Cys661Arg) rs876660402 0.00001
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr) rs571340013 0.00001
NM_032043.3(BRIP1):c.1989C>A (p.Thr663=) rs376628979 0.00001
NM_032043.3(BRIP1):c.1989C>T (p.Thr663=) rs376628979 0.00001
NM_032043.3(BRIP1):c.19G>C (p.Glu7Gln) rs1246321339 0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val) rs764585550 0.00001
NM_032043.3(BRIP1):c.2031A>T (p.Gly677=) rs1288620174 0.00001
NM_032043.3(BRIP1):c.2038T>C (p.Leu680=) rs786203872 0.00001
NM_032043.3(BRIP1):c.2048T>G (p.Val683Gly) rs1294492499 0.00001
NM_032043.3(BRIP1):c.205+16A>G rs1057520253 0.00001
NM_032043.3(BRIP1):c.205+20C>G rs1567876836 0.00001
NM_032043.3(BRIP1):c.205+3A>G rs539329589 0.00001
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala) rs769820537 0.00001
NM_032043.3(BRIP1):c.205G>A (p.Gly69Arg) rs372581879 0.00001
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.2069G>A (p.Gly690Glu) rs878855144 0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356 0.00001
NM_032043.3(BRIP1):c.2098-3T>C rs1057520463 0.00001
NM_032043.3(BRIP1):c.2107A>C (p.Lys703Gln) rs762590242 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_032043.3(BRIP1):c.2121T>C (p.Arg707=) rs1481107855 0.00001
NM_032043.3(BRIP1):c.2136T>C (p.Gly712=) rs1426003140 0.00001
NM_032043.3(BRIP1):c.2155T>C (p.Leu719=) rs771122056 0.00001
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile) rs145616741 0.00001
NM_032043.3(BRIP1):c.2172T>A (p.Ile724=) rs777860588 0.00001
NM_032043.3(BRIP1):c.2179C>G (p.Pro727Ala) rs769797684 0.00001
NM_032043.3(BRIP1):c.2203T>C (p.Phe735Leu) rs1353526212 0.00001
NM_032043.3(BRIP1):c.2247A>T (p.Lys749Asn) rs587782556 0.00001
NM_032043.3(BRIP1):c.2257+17T>C rs730881639 0.00001
NM_032043.3(BRIP1):c.2257+5C>T rs1057523068 0.00001
NM_032043.3(BRIP1):c.2257+6_2257+7del rs1255940179 0.00001
NM_032043.3(BRIP1):c.2258-18T>G rs544273704 0.00001
NM_032043.3(BRIP1):c.2258-8T>C rs2077009801 0.00001
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572 0.00001
NM_032043.3(BRIP1):c.225C>T (p.Gly75=) rs186802750 0.00001
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile) rs769573395 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2281T>G (p.Cys761Gly) rs1422958547 0.00001
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys) rs587778136 0.00001
NM_032043.3(BRIP1):c.2295G>A (p.Val765=) rs752509701 0.00001
NM_032043.3(BRIP1):c.2301G>A (p.Glu767=) rs369434185 0.00001
NM_032043.3(BRIP1):c.2304T>C (p.Gly768=) rs1603303843 0.00001
NM_032043.3(BRIP1):c.2310T>C (p.Asp770=) rs148752066 0.00001
NM_032043.3(BRIP1):c.2330G>A (p.Arg777His) rs747568830 0.00001
NM_032043.3(BRIP1):c.2338A>C (p.Ile780Leu) rs776131401 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2345T>C (p.Ile782Thr) rs778758437 0.00001
NM_032043.3(BRIP1):c.2370A>G (p.Lys790=) rs372122365 0.00001
NM_032043.3(BRIP1):c.2371G>T (p.Asp791Tyr) rs1289778155 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_032043.3(BRIP1):c.2379+1G>A rs1555590286 0.00001
NM_032043.3(BRIP1):c.2380-3T>A rs587782542 0.00001
NM_032043.3(BRIP1):c.2382T>G (p.Val794=) rs560088455 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln) rs375082407 0.00001
NM_032043.3(BRIP1):c.2402A>G (p.Asn801Ser) rs1325317591 0.00001
NM_032043.3(BRIP1):c.2419T>C (p.Leu807=) rs786201708 0.00001
NM_032043.3(BRIP1):c.2427T>C (p.Gly809=) rs754927538 0.00001
NM_032043.3(BRIP1):c.2428C>G (p.Leu810Val) rs587780238 0.00001
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) rs45468199 0.00001
NM_032043.3(BRIP1):c.2464T>C (p.Tyr822His) rs760887592 0.00001
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885 0.00001
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser) rs760127237 0.00001
NM_032043.3(BRIP1):c.2478C>T (p.Asn826=) rs774939280 0.00001
NM_032043.3(BRIP1):c.2492+5G>A rs763222019 0.00001
NM_032043.3(BRIP1):c.2493-11A>G rs890923836 0.00001
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter) rs752411477 0.00001
NM_032043.3(BRIP1):c.2505C>T (p.His835=) rs775547651 0.00001
NM_032043.3(BRIP1):c.2514T>C (p.Asp838=) rs1555574808 0.00001
NM_032043.3(BRIP1):c.2523T>C (p.Ala841=) rs1603280558 0.00001
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs) rs2061477722 0.00001
NM_032043.3(BRIP1):c.2535G>A (p.Val845=) rs1555574772 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2568T>C (p.Tyr856=) rs370175724 0.00001
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val) rs28904918 0.00001
NM_032043.3(BRIP1):c.2571A>G (p.Ile857Met) rs1427254734 0.00001
NM_032043.3(BRIP1):c.2575+4A>G rs758858747 0.00001
NM_032043.3(BRIP1):c.2576-7T>C rs759408257 0.00001
NM_032043.3(BRIP1):c.2579T>C (p.Leu860Pro) rs587780242 0.00001
NM_032043.3(BRIP1):c.2582C>G (p.Ser861Cys) rs774415723 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032043.3(BRIP1):c.2598G>A (p.Gln866=) rs769021796 0.00001
NM_032043.3(BRIP1):c.2613T>C (p.His871=) rs199721657 0.00001
NM_032043.3(BRIP1):c.2617A>G (p.Thr873Ala) rs758444508 0.00001
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln) rs876659099 0.00001
NM_032043.3(BRIP1):c.2628T>C (p.Ser876=) rs1032574757 0.00001
NM_032043.3(BRIP1):c.2646T>C (p.Ala882=) rs1342595412 0.00001
NM_032043.3(BRIP1):c.2648A>C (p.Glu883Ala) rs1453990721 0.00001
NM_032043.3(BRIP1):c.2671G>C (p.Val891Leu) rs754224663 0.00001
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val) rs764406913 0.00001
NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu) rs587781644 0.00001
NM_032043.3(BRIP1):c.269G>A (p.Cys90Tyr) rs1221074399 0.00001
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr) rs1060501781 0.00001
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met) rs587780244 0.00001
NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile) rs786201919 0.00001
NM_032043.3(BRIP1):c.2728G>A (p.Glu910Lys) rs1007808618 0.00001
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs) rs752780954 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr) rs1003917080 0.00001
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val) rs1483709056 0.00001
NM_032043.3(BRIP1):c.2788T>C (p.Ser930Pro) rs1384396768 0.00001
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val) rs863224801 0.00001
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092 0.00001
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu) rs1259968679 0.00001
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=) rs374335608 0.00001
NM_032043.3(BRIP1):c.2816C>G (p.Ala939Gly) rs756490117 0.00001
NM_032043.3(BRIP1):c.281A>G (p.Asp94Gly) rs529201896 0.00001
NM_032043.3(BRIP1):c.2820G>A (p.Lys940=) rs786201396 0.00001
NM_032043.3(BRIP1):c.2833G>C (p.Glu945Gln) rs863224802 0.00001
NM_032043.3(BRIP1):c.2841G>A (p.Gln947=) rs786201414 0.00001
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu) rs761639530 0.00001
NM_032043.3(BRIP1):c.2874A>T (p.Leu958=) rs886041147 0.00001
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632 0.00001
NM_032043.3(BRIP1):c.2900A>G (p.Glu967Gly) rs1176224216 0.00001
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679 0.00001
NM_032043.3(BRIP1):c.2905+3A>G rs1555573247 0.00001
NM_032043.3(BRIP1):c.2906-15T>A rs771068891 0.00001
NM_032043.3(BRIP1):c.2906-1G>A rs773639563 0.00001
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224 0.00001
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val) rs770352467 0.00001
NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu) rs730881627 0.00001
NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg) rs2061326120 0.00001
NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser) rs781121675 0.00001
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417 0.00001
NM_032043.3(BRIP1):c.2957C>G (p.Ser986Cys) rs182087528 0.00001
NM_032043.3(BRIP1):c.2979C>G (p.Phe993Leu) rs1060501756 0.00001
NM_032043.3(BRIP1):c.2995A>G (p.Arg999Gly) rs2061323811 0.00001
NM_032043.3(BRIP1):c.29T>C (p.Ile10Thr) rs786203418 0.00001
NM_032043.3(BRIP1):c.3037A>G (p.Thr1013Ala) rs1278002478 0.00001
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile) rs1372474933 0.00001
NM_032043.3(BRIP1):c.3043A>G (p.Lys1015Glu) rs769692303 0.00001
NM_032043.3(BRIP1):c.3045A>G (p.Lys1015=) rs1555572892 0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706 0.00001
NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala) rs1064793073 0.00001
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg) rs147119272 0.00001
NM_032043.3(BRIP1):c.3071G>T (p.Gly1024Val) rs587781744 0.00001
NM_032043.3(BRIP1):c.3075A>T (p.Ser1025=) rs1060504319 0.00001
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile) rs1060501762 0.00001
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=) rs937490699 0.00001
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379 0.00001
NM_032043.3(BRIP1):c.3101C>T (p.Pro1034Leu) rs1199923024 0.00001
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr) rs761225576 0.00001
NM_032043.3(BRIP1):c.3139T>C (p.Leu1047=) rs1060504333 0.00001
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser) rs786203344 0.00001
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333 0.00001
NM_032043.3(BRIP1):c.3154A>G (p.Lys1052Glu) rs1285783476 0.00001
NM_032043.3(BRIP1):c.315A>G (p.Ser105=) rs1555617827 0.00001
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505 0.00001
NM_032043.3(BRIP1):c.3187T>C (p.Ser1063Pro) rs2061317060 0.00001
NM_032043.3(BRIP1):c.3197C>T (p.Ser1066Leu) rs1567728809 0.00001
NM_032043.3(BRIP1):c.3199T>A (p.Cys1067Ser) rs878855153 0.00001
NM_032043.3(BRIP1):c.320A>G (p.His107Arg) rs876659809 0.00001
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile) rs786204068 0.00001
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000 0.00001
NM_032043.3(BRIP1):c.3234G>A (p.Lys1078=) rs570238270 0.00001
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402 0.00001
NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn) rs786204230 0.00001
NM_032043.3(BRIP1):c.3243C>T (p.Ala1081=) rs754003636 0.00001
NM_032043.3(BRIP1):c.3252T>C (p.Thr1084=) rs1555572745 0.00001
NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser) rs786202024 0.00001
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr) rs878855154 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.3272A>G (p.His1091Arg) rs776129117 0.00001
NM_032043.3(BRIP1):c.3273T>G (p.His1091Gln) rs1281827397 0.00001
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser) rs768065626 0.00001
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830 0.00001
NM_032043.3(BRIP1):c.3276G>A (p.Pro1092=) rs375911315 0.00001
NM_032043.3(BRIP1):c.328_333dup (p.Tyr110_Pro111dup) rs1423363607 0.00001
NM_032043.3(BRIP1):c.3290A>C (p.Glu1097Ala) rs876658746 0.00001
NM_032043.3(BRIP1):c.3306C>T (p.Asp1102=) rs1220971956 0.00001
NM_032043.3(BRIP1):c.3308T>A (p.Ile1103Asn) rs781102464 0.00001
NM_032043.3(BRIP1):c.3326G>A (p.Ser1109Asn) rs2061311430 0.00001
NM_032043.3(BRIP1):c.3354T>C (p.Asn1118=) rs757427210 0.00001
NM_032043.3(BRIP1):c.3381T>C (p.Asp1127=) rs1403990854 0.00001
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val) rs786202549 0.00001
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile) rs778480809 0.00001
NM_032043.3(BRIP1):c.3441T>G (p.Asn1147Lys) rs1603275034 0.00001
NM_032043.3(BRIP1):c.3448G>C (p.Ala1150Pro) rs757363615 0.00001
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly) rs769359514 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032043.3(BRIP1):c.3468T>C (p.Asn1156=) rs747624574 0.00001
NM_032043.3(BRIP1):c.3492C>A (p.Cys1164Ter) rs2061304701 0.00001
NM_032043.3(BRIP1):c.3493A>C (p.Ile1165Leu) rs771889454 0.00001
NM_032043.3(BRIP1):c.3499G>A (p.Ala1167Thr) rs1555572570 0.00001
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr) rs587782029 0.00001
NM_032043.3(BRIP1):c.3507C>A (p.Asp1169Glu) rs375741316 0.00001
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs) rs777367075 0.00001
NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln) rs756313788 0.00001
NM_032043.3(BRIP1):c.3533A>T (p.Glu1178Val) rs752850661 0.00001
NM_032043.3(BRIP1):c.3556A>G (p.Lys1186Glu) rs766709841 0.00001
NM_032043.3(BRIP1):c.3578C>T (p.Thr1193Ile) rs1368343911 0.00001
NM_032043.3(BRIP1):c.357T>C (p.Asn119=) rs786202477 0.00001
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly) rs776010326 0.00001
NM_032043.3(BRIP1):c.361A>G (p.Thr121Ala) rs1567874478 0.00001
NM_032043.3(BRIP1):c.3620A>T (p.Asp1207Val) rs139539831 0.00001
NM_032043.3(BRIP1):c.3636T>C (p.Asn1212=) rs374392860 0.00001
NM_032043.3(BRIP1):c.3681T>C (p.His1227=) rs370581038 0.00001
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728 0.00001
NM_032043.3(BRIP1):c.3699C>A (p.Asn1233Lys) rs1060501734 0.00001
NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=) rs758809865 0.00001
NM_032043.3(BRIP1):c.3727G>T (p.Gly1243Cys) rs587780250 0.00001
NM_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser) rs1196057129 0.00001
NM_032043.3(BRIP1):c.3743T>G (p.Phe1248Cys) rs763579793 0.00001
NM_032043.3(BRIP1):c.379G>A (p.Asp127Asn) rs1311206718 0.00001
NM_032043.3(BRIP1):c.380-10C>T rs1187614578 0.00001
NM_032043.3(BRIP1):c.380-11A>G rs1407822955 0.00001
NM_032043.3(BRIP1):c.380-20T>C rs748849028 0.00001
NM_032043.3(BRIP1):c.380-7A>G rs748143260 0.00001
NM_032043.3(BRIP1):c.380-9T>C rs876661141 0.00001
NM_032043.3(BRIP1):c.412T>C (p.Leu138=) rs786201292 0.00001
NM_032043.3(BRIP1):c.426A>G (p.Lys142=) rs768008017 0.00001
NM_032043.3(BRIP1):c.448G>A (p.Glu150Lys) rs762701532 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NM_032043.3(BRIP1):c.507+19C>T rs1057520658 0.00001
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser) rs1265322103 0.00001
NM_032043.3(BRIP1):c.51T>C (p.Phe17=) rs762827371 0.00001
NM_032043.3(BRIP1):c.537A>G (p.Glu179=) rs775509896 0.00001
NM_032043.3(BRIP1):c.53C>T (p.Pro18Leu) rs1415589484 0.00001
NM_032043.3(BRIP1):c.569G>A (p.Gly190Glu) rs756269682 0.00001
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys) rs876660880 0.00001
NM_032043.3(BRIP1):c.570A>G (p.Gly190=) rs1368897810 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 0.00001
NM_032043.3(BRIP1):c.627+16A>G rs1428730008 0.00001
NM_032043.3(BRIP1):c.627+5G>A rs745727200 0.00001
NM_032043.3(BRIP1):c.628-10T>A rs375646029 0.00001
NM_032043.3(BRIP1):c.628-11C>G rs762672738 0.00001
NM_032043.3(BRIP1):c.628-20G>A rs533827333 0.00001
NM_032043.3(BRIP1):c.630C>G (p.Pro210=) rs864622510 0.00001
NM_032043.3(BRIP1):c.641G>C (p.Cys214Ser) rs779409059 0.00001
NM_032043.3(BRIP1):c.655T>C (p.Cys219Arg) rs730881630 0.00001
NM_032043.3(BRIP1):c.668A>G (p.Gln223Arg) rs786203708 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_032043.3(BRIP1):c.684G>A (p.Glu228=) rs876659909 0.00001
NM_032043.3(BRIP1):c.68C>T (p.Pro23Leu) rs1292425366 0.00001
NM_032043.3(BRIP1):c.705G>A (p.Lys235=) rs1332585999 0.00001
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro) rs1490001091 0.00001
NM_032043.3(BRIP1):c.714A>G (p.Thr238=) rs548018916 0.00001
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro) rs771542690 0.00001
NM_032043.3(BRIP1):c.732C>A (p.Pro244=) rs786202300 0.00001
NM_032043.3(BRIP1):c.750A>G (p.Thr250=) rs1057522393 0.00001
NM_032043.3(BRIP1):c.752G>A (p.Arg251His) rs780834054 0.00001
NM_032043.3(BRIP1):c.753C>T (p.Arg251=) rs876659416 0.00001
NM_032043.3(BRIP1):c.773A>G (p.Gln258Arg) rs1567838078 0.00001
NM_032043.3(BRIP1):c.774G>C (p.Gln258His) rs1198536492 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032043.3(BRIP1):c.795G>A (p.Arg265=) rs61754143 0.00001
NM_032043.3(BRIP1):c.799G>A (p.Ala267Thr) rs865910081 0.00001
NM_032043.3(BRIP1):c.808G>T (p.Gly270Trp) rs1401241698 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_032043.3(BRIP1):c.845C>G (p.Thr282Ser) rs45624635 0.00001
NM_032043.3(BRIP1):c.867C>T (p.Val289=) rs147739458 0.00001
NM_032043.3(BRIP1):c.869G>A (p.Gly290Asp) rs148556781 0.00001
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser) rs746599076 0.00001
NM_032043.3(BRIP1):c.919-10T>G rs748497834 0.00001
NM_032043.3(BRIP1):c.919-17T>C rs770416347 0.00001
NM_032043.3(BRIP1):c.919-8G>T rs777079928 0.00001
NM_032043.3(BRIP1):c.93+13C>T rs2078970776 0.00001
NM_032043.3(BRIP1):c.932A>G (p.Tyr311Cys) rs587782731 0.00001
NM_032043.3(BRIP1):c.963T>A (p.Asp321Glu) rs1555607779 0.00001
NM_032043.3(BRIP1):c.972A>T (p.Thr324=) rs779627397 0.00001
NM_032043.3(BRIP1):c.975A>G (p.Leu325=) rs771630777 0.00001
NM_032043.3(BRIP1):c.97C>T (p.Leu33Phe) rs772319724 0.00001
NM_032043.3(BRIP1):c.984C>T (p.Phe328=) rs745379285 0.00001
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu) rs1380876424 0.00001
NM_032444.4(SLX4):c.*1047G>A rs1485693438 0.00001
NM_032444.4(SLX4):c.*1150G>C rs886051972 0.00001
NM_032444.4(SLX4):c.*73G>A rs1461608259 0.00001
NM_032444.4(SLX4):c.*811G>C rs371879504 0.00001
NM_032444.4(SLX4):c.*871A>G rs886051974 0.00001
NM_032444.4(SLX4):c.*957C>T rs886051973 0.00001
NM_032444.4(SLX4):c.-112C>A rs779687936 0.00001
NM_032444.4(SLX4):c.-205G>A rs937724885 0.00001
NM_032444.4(SLX4):c.-616C>T rs886051988 0.00001
NM_032444.4(SLX4):c.1011G>A (p.Pro337=) rs778310070 0.00001
NM_032444.4(SLX4):c.1026G>A (p.Pro342=) rs755211335 0.00001
NM_032444.4(SLX4):c.1034C>A (p.Thr345Asn) rs751770341 0.00001
NM_032444.4(SLX4):c.1054C>T (p.His352Tyr) rs1247465227 0.00001
NM_032444.4(SLX4):c.1109C>T (p.Ala370Val) rs189224493 0.00001
NM_032444.4(SLX4):c.111C>A (p.Ser37Arg) rs188729744 0.00001
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe) rs141167501 0.00001
NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp) rs1052888437 0.00001
NM_032444.4(SLX4):c.1140T>C (p.Gly380=) rs1255116355 0.00001
NM_032444.4(SLX4):c.1143C>T (p.Ser381=) rs1398627485 0.00001
NM_032444.4(SLX4):c.1155C>T (p.Pro385=) rs763763182 0.00001
NM_032444.4(SLX4):c.1162A>T (p.Ser388Cys) rs199774640 0.00001
NM_032444.4(SLX4):c.1163+11G>A rs2040719573 0.00001
NM_032444.4(SLX4):c.1163+2T>A rs773642409 0.00001
NM_032444.4(SLX4):c.1163+5G>A rs762454252 0.00001
NM_032444.4(SLX4):c.1163+7C>T rs1367462435 0.00001
NM_032444.4(SLX4):c.1178G>A (p.Ser393Asn) rs112301713 0.00001
NM_032444.4(SLX4):c.1179T>C (p.Ser393=) rs772030041 0.00001
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu) rs202204661 0.00001
NM_032444.4(SLX4):c.1251G>A (p.Pro417=) rs780972710 0.00001
NM_032444.4(SLX4):c.1284C>T (p.Ser428=) rs2040683174 0.00001
NM_032444.4(SLX4):c.1285C>T (p.Arg429Trp) rs532023958 0.00001
NM_032444.4(SLX4):c.1301C>T (p.Pro434Leu) rs763337738 0.00001
NM_032444.4(SLX4):c.1308G>A (p.Ala436=) rs147915773 0.00001
NM_032444.4(SLX4):c.1320G>A (p.Ala440=) rs776448104 0.00001
NM_032444.4(SLX4):c.1324A>C (p.Arg442=) rs886051980 0.00001
NM_032444.4(SLX4):c.1366+7G>A rs199889969 0.00001
NM_032444.4(SLX4):c.1367-18G>A rs771618757 0.00001
NM_032444.4(SLX4):c.13G>A (p.Val5Met) rs750091754 0.00001
NM_032444.4(SLX4):c.1407A>G (p.Pro469=) rs1567174102 0.00001
NM_032444.4(SLX4):c.1429G>C (p.Glu477Gln) rs748957904 0.00001
NM_032444.4(SLX4):c.1437A>G (p.Thr479=) rs376641868 0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter) rs1265030199 0.00001
NM_032444.4(SLX4):c.1456C>T (p.Arg486Cys) rs1483311055 0.00001
NM_032444.4(SLX4):c.1457G>A (p.Arg486His) rs558236399 0.00001
NM_032444.4(SLX4):c.1462G>A (p.Ala488Thr) rs2040677379 0.00001
NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser) rs200337039 0.00001
NM_032444.4(SLX4):c.1493C>T (p.Ser498Phe) rs1326014010 0.00001
NM_032444.4(SLX4):c.1537T>C (p.Trp513Arg) rs769495113 0.00001
NM_032444.4(SLX4):c.1538G>A (p.Trp513Ter) rs761314760 0.00001
NM_032444.4(SLX4):c.1555T>C (p.Cys519Arg) rs746419738 0.00001
NM_032444.4(SLX4):c.1597G>C (p.Gly533Arg) rs200437227 0.00001
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr) rs776394340 0.00001
NM_032444.4(SLX4):c.1627G>A (p.Glu543Lys) rs377148341 0.00001
NM_032444.4(SLX4):c.1629G>A (p.Glu543=) rs749696604 0.00001
NM_032444.4(SLX4):c.1630G>A (p.Asp544Asn) rs773395054 0.00001
NM_032444.4(SLX4):c.1639A>C (p.Thr547Pro) rs781416857 0.00001
NM_032444.4(SLX4):c.1647G>A (p.Arg549=) rs1596527389 0.00001
NM_032444.4(SLX4):c.1673G>A (p.Arg558Gln) rs773558127 0.00001
NM_032444.4(SLX4):c.1683+15T>C rs1215077519 0.00001
NM_032444.4(SLX4):c.1684-15dup rs1434348843 0.00001
NM_032444.4(SLX4):c.1691T>C (p.Met564Thr) rs1315121473 0.00001
NM_032444.4(SLX4):c.1698G>A (p.Glu566=) rs1284128847 0.00001
NM_032444.4(SLX4):c.1714G>A (p.Val572Met) rs745678074 0.00001
NM_032444.4(SLX4):c.1715T>A (p.Val572Glu) rs551757021 0.00001
NM_032444.4(SLX4):c.171C>T (p.Ser57=) rs1193950128 0.00001
NM_032444.4(SLX4):c.1734G>A (p.Glu578=) rs777492094 0.00001
NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn) rs755653940 0.00001
NM_032444.4(SLX4):c.1745G>A (p.Arg582Gln) rs755044096 0.00001
NM_032444.4(SLX4):c.1753C>T (p.Pro585Ser) rs2040658116 0.00001
NM_032444.4(SLX4):c.1765G>A (p.Gly589Ser) rs553750741 0.00001
NM_032444.4(SLX4):c.1795G>T (p.Gly599Cys) rs770845528 0.00001
NM_032444.4(SLX4):c.1805C>T (p.Pro602Leu) rs956483964 0.00001
NM_032444.4(SLX4):c.1810G>A (p.Ala604Thr) rs2040655815 0.00001
NM_032444.4(SLX4):c.1811C>G (p.Ala604Gly) rs953252183 0.00001
NM_032444.4(SLX4):c.1841A>T (p.Asp614Val) rs966027727 0.00001
NM_032444.4(SLX4):c.1845C>T (p.Leu615=) rs1056084 0.00001
NM_032444.4(SLX4):c.1856C>T (p.Ala619Val) rs371325486 0.00001
NM_032444.4(SLX4):c.1872C>T (p.Ser624=) rs767618166 0.00001
NM_032444.4(SLX4):c.1900C>T (p.Leu634=) rs768182554 0.00001
NM_032444.4(SLX4):c.1910C>T (p.Ser637Leu) rs200475686 0.00001
NM_032444.4(SLX4):c.1919C>A (p.Thr640Asn) rs1340467468 0.00001
NM_032444.4(SLX4):c.1933G>A (p.Val645Met) rs769084265 0.00001
NM_032444.4(SLX4):c.194A>G (p.His65Arg) rs1003415542 0.00001
NM_032444.4(SLX4):c.1952C>T (p.Pro651Leu) rs1490630727 0.00001
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu) rs372150541 0.00001
NM_032444.4(SLX4):c.1992G>A (p.Pro664=) rs770441819 0.00001
NM_032444.4(SLX4):c.199A>G (p.Ile67Val) rs751802145 0.00001
NM_032444.4(SLX4):c.2020C>T (p.Leu674Phe) rs777279668 0.00001
NM_032444.4(SLX4):c.2021T>G (p.Leu674Arg) rs889646690 0.00001
NM_032444.4(SLX4):c.2038G>C (p.Asp680His) rs1041739465 0.00001
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile) rs2040629635 0.00001
NM_032444.4(SLX4):c.2090C>T (p.Thr697Met) rs554989399 0.00001
NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu) rs373081094 0.00001
NM_032444.4(SLX4):c.2114C>T (p.Ala705Val) rs1262656321 0.00001
NM_032444.4(SLX4):c.2118C>T (p.His706=) rs371401752 0.00001
NM_032444.4(SLX4):c.2132A>T (p.Tyr711Phe) rs768477511 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser) rs770015489 0.00001
NM_032444.4(SLX4):c.2166C>T (p.Asn722=) rs767528538 0.00001
NM_032444.4(SLX4):c.2208G>C (p.Gln736His) rs1293011888 0.00001
NM_032444.4(SLX4):c.2227G>A (p.Val743Met) rs747832147 0.00001
NM_032444.4(SLX4):c.2236G>A (p.Glu746Lys) rs758785487 0.00001
NM_032444.4(SLX4):c.2242G>A (p.Ala748Thr) rs373178144 0.00001
NM_032444.4(SLX4):c.2245C>T (p.Arg749Cys) rs753926402 0.00001
NM_032444.4(SLX4):c.2269A>G (p.Thr757Ala) rs1567171612 0.00001
NM_032444.4(SLX4):c.2273C>T (p.Ala758Val) rs747563780 0.00001
NM_032444.4(SLX4):c.2274G>A (p.Ala758=) rs780854919 0.00001
NM_032444.4(SLX4):c.2289T>C (p.Pro763=) rs1389488864 0.00001
NM_032444.4(SLX4):c.2328-7G>A rs761644117 0.00001
NM_032444.4(SLX4):c.2334C>T (p.Gly778=) rs1235572029 0.00001
NM_032444.4(SLX4):c.2349T>C (p.Val783=) rs1229447712 0.00001
NM_032444.4(SLX4):c.2360A>G (p.Glu787Gly) rs1596522964 0.00001
NM_032444.4(SLX4):c.2389G>A (p.Gly797Ser) rs373595621 0.00001
NM_032444.4(SLX4):c.2412A>G (p.Glu804=) rs753755892 0.00001
NM_032444.4(SLX4):c.2421T>C (p.Asn807=) rs760214045 0.00001
NM_032444.4(SLX4):c.2425G>A (p.Glu809Lys) rs546657275 0.00001
NM_032444.4(SLX4):c.2432G>A (p.Arg811Lys) rs778547872 0.00001
NM_032444.4(SLX4):c.2438A>G (p.Glu813Gly) rs748712996 0.00001
NM_032444.4(SLX4):c.2455T>C (p.Leu819=) rs2040589478 0.00001
NM_032444.4(SLX4):c.2464A>G (p.Met822Val) rs779985555 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 0.00001
NM_032444.4(SLX4):c.247G>A (p.Gly83Ser) rs200319106 0.00001
NM_032444.4(SLX4):c.2489C>T (p.Ala830Val) rs757069261 0.00001
NM_032444.4(SLX4):c.2499G>T (p.Leu833Phe) rs764020001 0.00001
NM_032444.4(SLX4):c.2513A>G (p.Asp838Gly) rs1060501794 0.00001
NM_032444.4(SLX4):c.2517C>T (p.His839=) rs766929821 0.00001
NM_032444.4(SLX4):c.2518G>A (p.Glu840Lys) rs759271070 0.00001
NM_032444.4(SLX4):c.2557G>C (p.Glu853Gln) rs1465800756 0.00001
NM_032444.4(SLX4):c.2579C>T (p.Thr860Ile) rs747515305 0.00001
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter) rs200715208 0.00001
NM_032444.4(SLX4):c.2606G>C (p.Arg869Thr) rs779039237 0.00001
NM_032444.4(SLX4):c.2621G>A (p.Gly874Asp) rs150402424 0.00001
NM_032444.4(SLX4):c.2629G>A (p.Ala877Thr) rs761296000 0.00001
NM_032444.4(SLX4):c.2682C>T (p.Val894=) rs751088370 0.00001
NM_032444.4(SLX4):c.2684A>G (p.Gln895Arg) rs779708181 0.00001
NM_032444.4(SLX4):c.2724G>A (p.Pro908=) rs760071419 0.00001
NM_032444.4(SLX4):c.2725T>C (p.Leu909=) rs774477719 0.00001
NM_032444.4(SLX4):c.2776T>C (p.Cys926Arg) rs201703364 0.00001
NM_032444.4(SLX4):c.2778C>T (p.Cys926=) rs375872764 0.00001
NM_032444.4(SLX4):c.2779G>A (p.Ala927Thr) rs767916829 0.00001
NM_032444.4(SLX4):c.2784C>T (p.Leu928=) rs372754390 0.00001
NM_032444.4(SLX4):c.279C>G (p.Thr93=) rs543091261 0.00001
NM_032444.4(SLX4):c.2808_2809del (p.Ala938fs) rs767631456 0.00001
NM_032444.4(SLX4):c.2828C>A (p.Ala943Asp) rs745380963 0.00001
NM_032444.4(SLX4):c.2850G>A (p.Glu950=) rs751882942 0.00001
NM_032444.4(SLX4):c.2856G>A (p.Ala952=) rs1434868021 0.00001
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys) rs772190416 0.00001
NM_032444.4(SLX4):c.2889G>A (p.Arg963=) rs201978747 0.00001
NM_032444.4(SLX4):c.2892C>G (p.Asp964Glu) rs1311904834 0.00001
NM_032444.4(SLX4):c.2896C>G (p.Gln966Glu) rs770456496 0.00001
NM_032444.4(SLX4):c.2902G>C (p.Glu968Gln) rs777514343 0.00001
NM_032444.4(SLX4):c.2925G>A (p.Pro975=) rs1431725463 0.00001
NM_032444.4(SLX4):c.2928C>G (p.His976Gln) rs1054086781 0.00001
NM_032444.4(SLX4):c.2964A>G (p.Ser988=) rs1596522182 0.00001
NM_032444.4(SLX4):c.3004A>G (p.Ser1002Gly) rs1047744954 0.00001
NM_032444.4(SLX4):c.3041G>A (p.Arg1014Lys) rs756448789 0.00001
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=) rs1391997347 0.00001
NM_032444.4(SLX4):c.3087A>T (p.Pro1029=) rs746254787 0.00001
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=) rs1313995893 0.00001
NM_032444.4(SLX4):c.3122A>T (p.Gln1041Leu) rs1384033342 0.00001
NM_032444.4(SLX4):c.3124G>C (p.Gly1042Arg) rs750349545 0.00001
NM_032444.4(SLX4):c.3139G>A (p.Gly1047Arg) rs561815282 0.00001
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=) rs1484366381 0.00001
NM_032444.4(SLX4):c.3188G>A (p.Gly1063Asp) rs750149671 0.00001
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg) rs368657696 0.00001
NM_032444.4(SLX4):c.3269C>T (p.Thr1090Met) rs780143733 0.00001
NM_032444.4(SLX4):c.3307C>T (p.Arg1103Cys) rs200708159 0.00001
NM_032444.4(SLX4):c.3308G>A (p.Arg1103His) rs201618094 0.00001
NM_032444.4(SLX4):c.3363T>C (p.Ser1121=) rs770731522 0.00001
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro) rs201582780 0.00001
NM_032444.4(SLX4):c.3370A>G (p.Ile1124Val) rs766081510 0.00001
NM_032444.4(SLX4):c.3371T>C (p.Ile1124Thr) rs2040567955 0.00001
NM_032444.4(SLX4):c.3388A>G (p.Asn1130Asp) rs1276163880 0.00001
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr) rs1391353238 0.00001
NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr) rs1374316194 0.00001
NM_032444.4(SLX4):c.3470C>T (p.Ser1157Leu) rs769688259 0.00001
NM_032444.4(SLX4):c.3507G>A (p.Lys1169=) rs183926603 0.00001
NM_032444.4(SLX4):c.3566G>A (p.Cys1189Tyr) rs766648339 0.00001
NM_032444.4(SLX4):c.3578C>T (p.Ser1193Phe) rs368695839 0.00001
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=) rs112016711 0.00001
NM_032444.4(SLX4):c.3594T>C (p.Asp1198=) rs1238819543 0.00001
NM_032444.4(SLX4):c.3605A>G (p.Glu1202Gly) rs1414947508 0.00001
NM_032444.4(SLX4):c.3631G>A (p.Glu1211Lys) rs202032197 0.00001
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr) rs574844562 0.00001
NM_032444.4(SLX4):c.3650A>G (p.Glu1217Gly) rs761680381 0.00001
NM_032444.4(SLX4):c.3673A>G (p.Asn1225Asp) rs878855161 0.00001
NM_032444.4(SLX4):c.3676_3678dup (p.Arg1226dup) rs1567169873 0.00001
NM_032444.4(SLX4):c.3683C>A (p.Ser1228Tyr) rs755523528 0.00001
NM_032444.4(SLX4):c.3706T>C (p.Trp1236Arg) rs760493361 0.00001
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys) rs771835799 0.00001
NM_032444.4(SLX4):c.3739G>A (p.Glu1247Lys) rs978074181 0.00001
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=) rs769032315 0.00001
NM_032444.4(SLX4):c.3761C>T (p.Ser1254Leu) rs750580998 0.00001
NM_032444.4(SLX4):c.37T>C (p.Tyr13His) rs2040817612 0.00001
NM_032444.4(SLX4):c.3800G>A (p.Arg1267His) rs775711964 0.00001
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser) rs779426291 0.00001
NM_032444.4(SLX4):c.3810T>C (p.Ser1270=) rs563781078 0.00001
NM_032444.4(SLX4):c.3835A>G (p.Arg1279Gly) rs1252550783 0.00001
NM_032444.4(SLX4):c.3858G>A (p.Ala1286=) rs771503932 0.00001
NM_032444.4(SLX4):c.3894C>G (p.Asn1298Lys) rs1260811996 0.00001
NM_032444.4(SLX4):c.3894C>T (p.Asn1298=) rs1260811996 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.3906C>T (p.Asn1302=) rs763731687 0.00001
NM_032444.4(SLX4):c.3907G>A (p.Glu1303Lys) rs759828401 0.00001
NM_032444.4(SLX4):c.3912C>T (p.Val1304=) rs140254478 0.00001
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe) rs556682517 0.00001
NM_032444.4(SLX4):c.3931A>G (p.Ile1311Val) rs1196234101 0.00001
NM_032444.4(SLX4):c.3981C>T (p.Pro1327=) rs752013274 0.00001
NM_032444.4(SLX4):c.4019A>G (p.His1340Arg) rs776760390 0.00001
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro) rs745595506 0.00001
NM_032444.4(SLX4):c.4055C>T (p.Pro1352Leu) rs144720266 0.00001
NM_032444.4(SLX4):c.4056G>A (p.Pro1352=) rs768415277 0.00001
NM_032444.4(SLX4):c.4066C>G (p.Pro1356Ala) rs532756081 0.00001
NM_032444.4(SLX4):c.4078C>T (p.His1360Tyr) rs1282208383 0.00001
NM_032444.4(SLX4):c.4079A>T (p.His1360Leu) rs1060501793 0.00001
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys) rs368434737 0.00001
NM_032444.4(SLX4):c.4098C>T (p.Arg1366=) rs770811758 0.00001
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu) rs770241338 0.00001
NM_032444.4(SLX4):c.4134G>A (p.Pro1378=) rs760757846 0.00001
NM_032444.4(SLX4):c.4182A>G (p.Glu1394=) rs1232843058 0.00001
NM_032444.4(SLX4):c.4197C>T (p.Asp1399=) rs146079010 0.00001
NM_032444.4(SLX4):c.423G>A (p.Gly141=) rs111405249 0.00001
NM_032444.4(SLX4):c.4240C>G (p.Pro1414Ala) rs2040548472 0.00001
NM_032444.4(SLX4):c.424G>C (p.Gly142Arg) rs773117024 0.00001
NM_032444.4(SLX4):c.429G>A (p.Val143=) rs747624579 0.00001
NM_032444.4(SLX4):c.4334G>A (p.Arg1445Gln) rs756660911 0.00001
NM_032444.4(SLX4):c.4339G>A (p.Gly1447Ser) rs371090786 0.00001
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=) rs373300793 0.00001
NM_032444.4(SLX4):c.4359C>T (p.Ser1453=) rs776711072 0.00001
NM_032444.4(SLX4):c.4383C>T (p.Ala1461=) rs556719111 0.00001
NM_032444.4(SLX4):c.4386C>T (p.Ala1462=) rs747185125 0.00001
NM_032444.4(SLX4):c.4397A>G (p.Asp1466Gly) rs753668854 0.00001
NM_032444.4(SLX4):c.4410G>A (p.Pro1470=) rs1555449966 0.00001
NM_032444.4(SLX4):c.4415T>C (p.Leu1472Pro) rs938457122 0.00001
NM_032444.4(SLX4):c.4483G>A (p.Ala1495Thr) rs762565535 0.00001
NM_032444.4(SLX4):c.4496G>A (p.Gly1499Glu) rs1231411840 0.00001
NM_032444.4(SLX4):c.4524G>A (p.Ser1508=) rs1423670990 0.00001
NM_032444.4(SLX4):c.4536C>T (p.Asp1512=) rs1212941188 0.00001
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg) rs775915651 0.00001
NM_032444.4(SLX4):c.4552G>A (p.Glu1518Lys) rs760096901 0.00001
NM_032444.4(SLX4):c.4563T>C (p.Pro1521=) rs200225783 0.00001
NM_032444.4(SLX4):c.4597G>A (p.Ala1533Thr) rs200377191 0.00001
NM_032444.4(SLX4):c.4607C>T (p.Ala1536Val) rs759939338 0.00001
NM_032444.4(SLX4):c.460C>T (p.Arg154Trp) rs141639275 0.00001
NM_032444.4(SLX4):c.4618G>A (p.Glu1540Lys) rs769950582 0.00001
NM_032444.4(SLX4):c.4636+10C>G rs757181978 0.00001
NM_032444.4(SLX4):c.4683G>A (p.Thr1561=) rs141196682 0.00001
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser) rs893507870 0.00001
NM_032444.4(SLX4):c.4691C>G (p.Pro1564Arg) rs1478218856 0.00001
NM_032444.4(SLX4):c.4700C>T (p.Ser1567Phe) rs755754734 0.00001
NM_032444.4(SLX4):c.4714C>G (p.Pro1572Ala) rs753904877 0.00001
NM_032444.4(SLX4):c.4739+1G>T rs759186986 0.00001
NM_032444.4(SLX4):c.4739+2T>C rs774356384 0.00001
NM_032444.4(SLX4):c.4739+6C>T rs770758859 0.00001
NM_032444.4(SLX4):c.4768C>G (p.Gln1590Glu) rs148228302 0.00001
NM_032444.4(SLX4):c.4773G>A (p.Met1591Ile) rs757589951 0.00001
NM_032444.4(SLX4):c.4780A>C (p.Lys1594Gln) rs1567166631 0.00001
NM_032444.4(SLX4):c.4797C>T (p.Phe1599=) rs1159059195 0.00001
NM_032444.4(SLX4):c.4815C>G (p.Thr1605=) rs752758310 0.00001
NM_032444.4(SLX4):c.4822T>G (p.Ser1608Ala) rs1480904013 0.00001
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=) rs767845523 0.00001
NM_032444.4(SLX4):c.4845G>C (p.Gln1615His) rs988625732 0.00001
NM_032444.4(SLX4):c.486G>A (p.Thr162=) rs762711558 0.00001
NM_032444.4(SLX4):c.4880A>G (p.Gln1627Arg) rs1346015743 0.00001
NM_032444.4(SLX4):c.4882A>T (p.Thr1628Ser) rs201688321 0.00001
NM_032444.4(SLX4):c.4887C>T (p.Leu1629=) rs761814315 0.00001
NM_032444.4(SLX4):c.4888G>A (p.Ala1630Thr) rs776578234 0.00001
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe) rs763539738 0.00001
NM_032444.4(SLX4):c.4898C>T (p.Thr1633Ile) rs1173889397 0.00001
NM_032444.4(SLX4):c.4927G>T (p.Ala1643Ser) rs145557355 0.00001
NM_032444.4(SLX4):c.4939G>A (p.Ala1647Thr) rs2040464512 0.00001
NM_032444.4(SLX4):c.4947A>G (p.Thr1649=) rs540634044 0.00001
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg) rs200507644 0.00001
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter) rs1291935778 0.00001
NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu) rs530123827 0.00001
NM_032444.4(SLX4):c.5056G>A (p.Ala1686Thr) rs751219957 0.00001
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val) rs761226343 0.00001
NM_032444.4(SLX4):c.5097T>A (p.Ser1699=) rs202099433 0.00001
NM_032444.4(SLX4):c.5144G>A (p.Ser1715Asn) rs754498907 0.00001
NM_032444.4(SLX4):c.5153+7G>A rs370334914 0.00001
NM_032444.4(SLX4):c.5186A>G (p.Glu1729Gly) rs1203040904 0.00001
NM_032444.4(SLX4):c.5189C>G (p.Ser1730Cys) rs376960842 0.00001
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=) rs369714623 0.00001
NM_032444.4(SLX4):c.5223T>G (p.Ser1741Arg) rs200262630 0.00001
NM_032444.4(SLX4):c.5278A>C (p.Ile1760Leu) rs377648201 0.00001
NM_032444.4(SLX4):c.5289G>A (p.Lys1763=) rs759412447 0.00001
NM_032444.4(SLX4):c.5304G>C (p.Gln1768His) rs1555449297 0.00001
NM_032444.4(SLX4):c.5318A>G (p.Tyr1773Cys) rs769567874 0.00001
NM_032444.4(SLX4):c.531C>G (p.Thr177=) rs749641379 0.00001
NM_032444.4(SLX4):c.533G>T (p.Arg178Ile) rs1216948562 0.00001
NM_032444.4(SLX4):c.5354T>C (p.Leu1785Pro) rs562491450 0.00001
NM_032444.4(SLX4):c.536-12C>T rs1190879833 0.00001
NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser) rs374876624 0.00001
NM_032444.4(SLX4):c.5384G>A (p.Arg1795His) rs926700658 0.00001
NM_032444.4(SLX4):c.5386A>G (p.Arg1796Gly) rs770529698 0.00001
NM_032444.4(SLX4):c.5410C>T (p.His1804Tyr) rs772332386 0.00001
NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg) rs746191123 0.00001
NM_032444.4(SLX4):c.5436C>T (p.Ala1812=) rs200473811 0.00001
NM_032444.4(SLX4):c.5445G>A (p.Arg1815=) rs199998573 0.00001
NM_032444.4(SLX4):c.5497C>T (p.Arg1833Trp) rs375100050 0.00001
NM_032444.4(SLX4):c.5498G>A (p.Arg1833Gln) rs751456750 0.00001
NM_032444.4(SLX4):c.595A>G (p.Ser199Gly) rs770098753 0.00001
NM_032444.4(SLX4):c.622T>A (p.Leu208Met) rs1453789700 0.00001
NM_032444.4(SLX4):c.635G>A (p.Arg212Gln) rs575953567 0.00001
NM_032444.4(SLX4):c.645G>A (p.Gln215=) rs1449991903 0.00001
NM_032444.4(SLX4):c.702G>C (p.Glu234Asp) rs201161027 0.00001
NM_032444.4(SLX4):c.703G>C (p.Ala235Pro) rs754917250 0.00001
NM_032444.4(SLX4):c.755G>A (p.Gly252Glu) rs1060501795 0.00001
NM_032444.4(SLX4):c.792C>T (p.Ser264=) rs201383482 0.00001
NM_032444.4(SLX4):c.799G>A (p.Ala267Thr) rs755289589 0.00001
NM_032444.4(SLX4):c.813C>T (p.Thr271=) rs765351938 0.00001
NM_032444.4(SLX4):c.842C>G (p.Ala281Gly) rs1263321133 0.00001
NM_032444.4(SLX4):c.843A>G (p.Ala281=) rs1009573141 0.00001
NM_032444.4(SLX4):c.860G>T (p.Ser287Ile) rs1264580208 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NM_032444.4(SLX4):c.862C>A (p.Leu288Met) rs777370394 0.00001
NM_032444.4(SLX4):c.874G>A (p.Gly292Ser) rs780402573 0.00001
NM_032444.4(SLX4):c.888C>T (p.Cys296=) rs758846114 0.00001
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg) rs778643553 0.00001
NM_032444.4(SLX4):c.941A>G (p.His314Arg) rs1274906202 0.00001
NM_032444.4(SLX4):c.950+7G>A rs772672664 0.00001
NM_032444.4(SLX4):c.973A>T (p.Thr325Ser) rs181942292 0.00001
NM_032444.4(SLX4):c.983C>T (p.Pro328Leu) rs760336082 0.00001
NM_032451.2(SPIRE2):c.245-5527C>G rs2041486621 0.00001
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg) rs1480450110 0.00001
NM_033022.4(RPS24):c.234C>T (p.Ser78=) rs1177372076 0.00001
NM_033022.4(RPS24):c.23G>A (p.Arg8His) rs1291294524 0.00001
NM_033022.4(RPS24):c.264A>G (p.Lys88=) rs1476221269 0.00001
NM_033022.4(RPS24):c.279+2dup rs1459887559 0.00001
NM_033022.4(RPS24):c.3+7C>T rs759947869 0.00001
NM_033022.4(RPS24):c.324G>A (p.Lys108=) rs746433565 0.00001
NM_033022.4(RPS24):c.333G>A (p.Lys111=) rs144291219 0.00001
NM_033022.4(RPS24):c.390+14A>G rs1158604804 0.00001
NM_033022.4(RPS24):c.390+3dup rs780893174 0.00001
NM_033022.4(RPS24):c.7G>A (p.Asp3Asn) rs772167568 0.00001
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) rs757084547 0.00001
NM_033022.4(RPS24):c.99G>A (p.Ala33=) rs772511022 0.00001
NM_058216.3(RAD51C):c.-2C>T rs876658796 0.00001
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) rs759292615 0.00001
NM_058216.3(RAD51C):c.1008A>G (p.Thr336=) rs1057521598 0.00001
NM_058216.3(RAD51C):c.1016T>C (p.Phe339Ser) rs1060502602 0.00001
NM_058216.3(RAD51C):c.1027-3C>T rs587782459 0.00001
NM_058216.3(RAD51C):c.102T>G (p.Thr34=) rs550757849 0.00001
NM_058216.3(RAD51C):c.1031A>G (p.Gln344Arg) rs2049559372 0.00001
NM_058216.3(RAD51C):c.1043A>T (p.Asp348Val) rs111614311 0.00001
NM_058216.3(RAD51C):c.1046C>T (p.Thr349Ile) rs776823687 0.00001
NM_058216.3(RAD51C):c.1051G>A (p.Val351Ile) rs1160208500 0.00001
NM_058216.3(RAD51C):c.1055C>A (p.Thr352Asn) rs786203771 0.00001
NM_058216.3(RAD51C):c.1061C>T (p.Ala354Val) rs761770500 0.00001
NM_058216.3(RAD51C):c.1064G>A (p.Cys355Tyr) rs1555605562 0.00001
NM_058216.3(RAD51C):c.1077A>G (p.Thr359=) rs763424319 0.00001
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp) rs587782449 0.00001
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln) rs577852020 0.00001
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln) rs373170458 0.00001
NM_058216.3(RAD51C):c.121G>A (p.Val41Met) rs879254131 0.00001
NM_058216.3(RAD51C):c.128C>T (p.Pro43Leu) rs766958594 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.145+11C>G rs1263551026 0.00001
NM_058216.3(RAD51C):c.145+13G>A rs1177750681 0.00001
NM_058216.3(RAD51C):c.145+5C>A rs876660577 0.00001
NM_058216.3(RAD51C):c.145+5C>T rs876660577 0.00001
NM_058216.3(RAD51C):c.146-7C>G rs1428658524 0.00001
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu) rs730881927 0.00001
NM_058216.3(RAD51C):c.15G>T (p.Thr5=) rs777585467 0.00001
NM_058216.3(RAD51C):c.161A>C (p.Lys54Thr) rs587782296 0.00001
NM_058216.3(RAD51C):c.164C>T (p.Ala55Val) rs730881928 0.00001
NM_058216.3(RAD51C):c.185A>G (p.Gln62Arg) rs1308150896 0.00001
NM_058216.3(RAD51C):c.194G>C (p.Arg65Thr) rs2047943468 0.00001
NM_058216.3(RAD51C):c.19C>A (p.Arg7Ser) rs759759863 0.00001
NM_058216.3(RAD51C):c.1A>G (p.Met1Val) rs921435798 0.00001
NM_058216.3(RAD51C):c.20G>A (p.Arg7His) rs892567748 0.00001
NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu) rs775224480 0.00001
NM_058216.3(RAD51C):c.21C>G (p.Arg7=) rs1443654986 0.00001
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) rs112832782 0.00001
NM_058216.3(RAD51C):c.234A>G (p.Thr78=) rs730881929 0.00001
NM_058216.3(RAD51C):c.240G>A (p.Glu80=) rs779053608 0.00001
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn) rs786202890 0.00001
NM_058216.3(RAD51C):c.253T>C (p.Cys85Arg) rs1060502595 0.00001
NM_058216.3(RAD51C):c.276G>A (p.Glu92=) rs1217274682 0.00001
NM_058216.3(RAD51C):c.28A>T (p.Met10Leu) rs1452865935 0.00001
NM_058216.3(RAD51C):c.29T>G (p.Met10Arg) rs730881936 0.00001
NM_058216.3(RAD51C):c.307T>A (p.Phe103Ile) rs1114167446 0.00001
NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg) rs786203690 0.00001
NM_058216.3(RAD51C):c.35G>A (p.Arg12Gln) rs764394130 0.00001
NM_058216.3(RAD51C):c.35G>C (p.Arg12Pro) rs764394130 0.00001
NM_058216.3(RAD51C):c.361A>G (p.Thr121Ala) rs969395239 0.00001
NM_058216.3(RAD51C):c.363A>G (p.Thr121=) rs876659626 0.00001
NM_058216.3(RAD51C):c.370T>A (p.Cys124Ser) rs1273995533 0.00001
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr) rs587782222 0.00001
NM_058216.3(RAD51C):c.385G>A (p.Val129Ile) rs1555593879 0.00001
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile) rs769053886 0.00001
NM_058216.3(RAD51C):c.404+16C>G rs376465837 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.404+7T>C rs1350153132 0.00001
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu) rs587780254 0.00001
NM_058216.3(RAD51C):c.408G>A (p.Met136Ile) rs587780836 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.418G>C (p.Val140Leu) rs730881938 0.00001
NM_058216.3(RAD51C):c.434C>T (p.Pro145Leu) rs1291341143 0.00001
NM_058216.3(RAD51C):c.435A>G (p.Pro145=) rs555235745 0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp) rs765730332 0.00001
NM_058216.3(RAD51C):c.460G>A (p.Glu154Lys) rs1194019460 0.00001
NM_058216.3(RAD51C):c.46A>G (p.Ser16Gly) rs762060755 0.00001
NM_058216.3(RAD51C):c.487A>G (p.Ser163Gly) rs776904180 0.00001
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala) rs765300465 0.00001
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr) rs587780838 0.00001
NM_058216.3(RAD51C):c.536A>G (p.His179Arg) rs1064794989 0.00001
NM_058216.3(RAD51C):c.537C>T (p.His179=) rs372385738 0.00001
NM_058216.3(RAD51C):c.53C>T (p.Pro18Leu) rs754498936 0.00001
NM_058216.3(RAD51C):c.547A>G (p.Ile183Val) rs753475114 0.00001
NM_058216.3(RAD51C):c.548T>C (p.Ile183Thr) rs756727559 0.00001
NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr) rs1060502604 0.00001
NM_058216.3(RAD51C):c.556A>C (p.Lys186Gln) rs1363104728 0.00001
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met) rs587781680 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.572-11T>G rs746890699 0.00001
NM_058216.3(RAD51C):c.572-15G>A rs757896995 0.00001
NM_058216.3(RAD51C):c.572-20A>C rs933464572 0.00001
NM_058216.3(RAD51C):c.572-2A>G rs145310733 0.00001
NM_058216.3(RAD51C):c.578G>A (p.Arg193Gln) rs587782332 0.00001
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val) rs531838785 0.00001
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp) rs538884532 0.00001
NM_058216.3(RAD51C):c.620A>G (p.His207Arg) rs587781921 0.00001
NM_058216.3(RAD51C):c.621T>A (p.His207Gln) rs786201848 0.00001
NM_058216.3(RAD51C):c.622A>G (p.Ile208Val) rs771078849 0.00001
NM_058216.3(RAD51C):c.62C>T (p.Pro21Leu) rs587782511 0.00001
NM_058216.3(RAD51C):c.634C>T (p.Arg212Cys) rs137947462 0.00001
NM_058216.3(RAD51C):c.641G>A (p.Arg214His) rs760911964 0.00001
NM_058216.3(RAD51C):c.644A>G (p.Asp215Gly) rs1483938000 0.00001
NM_058216.3(RAD51C):c.651A>G (p.Thr217=) rs757915374 0.00001
NM_058216.3(RAD51C):c.653A>G (p.Glu218Gly) rs1321358603 0.00001
NM_058216.3(RAD51C):c.654G>A (p.Glu218=) rs1388636466 0.00001
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791 0.00001
NM_058216.3(RAD51C):c.66G>A (p.Ala22=) rs876660695 0.00001
NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu) rs1374461662 0.00001
NM_058216.3(RAD51C):c.687C>G (p.Phe229Leu) rs780177888 0.00001
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter) rs1060502588 0.00001
NM_058216.3(RAD51C):c.6C>T (p.Arg2=) rs1334508786 0.00001
NM_058216.3(RAD51C):c.706-17A>G rs772028189 0.00001
NM_058216.3(RAD51C):c.706-6A>G rs776931174 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln) rs370393672 0.00001
NM_058216.3(RAD51C):c.714A>G (p.Leu238=) rs1251441432 0.00001
NM_058216.3(RAD51C):c.722T>C (p.Val241Ala) rs1555599127 0.00001
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val) rs199886026 0.00001
NM_058216.3(RAD51C):c.73G>A (p.Val25Met) rs757116652 0.00001
NM_058216.3(RAD51C):c.740C>T (p.Pro247Leu) rs2048495457 0.00001
NM_058216.3(RAD51C):c.748C>T (p.His250Tyr) rs531540031 0.00001
NM_058216.3(RAD51C):c.758A>G (p.Asp253Gly) rs1060502592 0.00001
NM_058216.3(RAD51C):c.75G>A (p.Val25=) rs779332818 0.00001
NM_058216.3(RAD51C):c.76A>G (p.Lys26Glu) rs1233718307 0.00001
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys) rs587782474 0.00001
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln) rs730881926 0.00001
NM_058216.3(RAD51C):c.78G>A (p.Lys26=) rs864622460 0.00001
NM_058216.3(RAD51C):c.79C>T (p.Leu27=) rs786201775 0.00001
NM_058216.3(RAD51C):c.837+10A>C rs1438994462 0.00001
NM_058216.3(RAD51C):c.837+16T>G rs776692560 0.00001
NM_058216.3(RAD51C):c.838-15A>G rs150042209 0.00001
NM_058216.3(RAD51C):c.838-16C>T rs374620446 0.00001
NM_058216.3(RAD51C):c.840A>G (p.Val280=) rs756503509 0.00001
NM_058216.3(RAD51C):c.869T>C (p.Ile290Thr) rs749645694 0.00001
NM_058216.3(RAD51C):c.892G>C (p.Val298Leu) rs1555602145 0.00001
NM_058216.3(RAD51C):c.899C>T (p.Ala300Val) rs1444333199 0.00001
NM_058216.3(RAD51C):c.904+16G>C rs929872458 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.904+8A>G rs2048894791 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_058216.3(RAD51C):c.905-5C>T rs371968149 0.00001
NM_058216.3(RAD51C):c.905-7C>T rs757624360 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.92G>A (p.Gly31Glu) rs587781441 0.00001
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) rs730881932 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_058216.3(RAD51C):c.952G>T (p.Asp318Tyr) rs876659875 0.00001
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287 0.00001
NM_058216.3(RAD51C):c.965+4A>G rs1555603065 0.00001
NM_058216.3(RAD51C):c.966-12T>C rs1057522948 0.00001
NM_058216.3(RAD51C):c.966-1G>C rs876658272 0.00001
NM_058216.3(RAD51C):c.966-8T>G rs1181139153 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_058216.3(RAD51C):c.982A>G (p.Lys328Glu) rs1555605064 0.00001
NM_058216.3(RAD51C):c.9G>C (p.Gly3=) rs751117852 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.337C>T (p.Arg113Cys) rs80338770 0.00001
NM_080669.6(SLC46A1):c.462C>T (p.Leu154=) rs782480845 0.00001
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772 0.00001
NM_138477.4(CDAN1):c.*58G>A rs567117839 0.00001
NM_138477.4(CDAN1):c.*753C>T rs1011188304 0.00001
NM_138477.4(CDAN1):c.-4C>G rs776319103 0.00001
NM_138477.4(CDAN1):c.1203C>T (p.Phe401=) rs2061657466 0.00001
NM_138477.4(CDAN1):c.1242G>C (p.Glu414Asp) rs1470472984 0.00001
NM_138477.4(CDAN1):c.1273C>G (p.Pro425Ala) rs191247450 0.00001
NM_138477.4(CDAN1):c.1583C>T (p.Pro528Leu) rs755117251 0.00001
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) rs120074166 0.00001
NM_138477.4(CDAN1):c.2073C>T (p.Leu691=) rs199776068 0.00001
NM_138477.4(CDAN1):c.2174G>A (p.Arg725Gln) rs962870388 0.00001
NM_138477.4(CDAN1):c.2262+10G>A rs1338899431 0.00001
NM_138477.4(CDAN1):c.2539C>T (p.Gln847Ter) rs144546360 0.00001
NM_138477.4(CDAN1):c.2576C>T (p.Pro859Leu) rs370476233 0.00001
NM_138477.4(CDAN1):c.2587C>T (p.Arg863Cys) rs768892869 0.00001
NM_138477.4(CDAN1):c.2725G>A (p.Gly909Arg) rs745824109 0.00001
NM_138477.4(CDAN1):c.2869-4G>A rs749321986 0.00001
NM_138477.4(CDAN1):c.2872C>T (p.Leu958=) rs764432820 0.00001
NM_138477.4(CDAN1):c.2937C>T (p.Ala979=) rs781767396 0.00001
NM_138477.4(CDAN1):c.3268G>C (p.Val1090Leu) rs559053820 0.00001
NM_138477.4(CDAN1):c.3559-11A>G rs375128684 0.00001
NM_138477.4(CDAN1):c.3648G>A (p.Val1216=) rs138934554 0.00001
NM_138477.4(CDAN1):c.392G>A (p.Arg131His) rs1165157914 0.00001
NM_138477.4(CDAN1):c.569+9C>G rs778283367 0.00001
NM_182758.4(WDR72):c.2522T>A (p.Leu841Gln) rs768446132 0.00001
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) rs557128345 0.00001
NM_182916.3(TRNT1):c.1010del (p.Thr337fs) rs772805677 0.00001
NM_182916.3(TRNT1):c.1017T>C (p.Ser339=) rs1325737127 0.00001
NM_182916.3(TRNT1):c.1025C>T (p.Pro342Leu) rs1307103374 0.00001
NM_182916.3(TRNT1):c.1035C>T (p.Pro345=) rs199673739 0.00001
NM_182916.3(TRNT1):c.1054G>C (p.Asp352His) rs1170870898 0.00001
NM_182916.3(TRNT1):c.1056+12C>G rs376137909 0.00001
NM_182916.3(TRNT1):c.105C>T (p.Pro35=) rs368274081 0.00001
NM_182916.3(TRNT1):c.1073C>G (p.Ala358Gly) rs746690923 0.00001
NM_182916.3(TRNT1):c.1112A>G (p.Glu371Gly) rs1179943378 0.00001
NM_182916.3(TRNT1):c.1130A>T (p.Glu377Val) rs1050894893 0.00001
NM_182916.3(TRNT1):c.1144T>C (p.Ser382Pro) rs866447898 0.00001
NM_182916.3(TRNT1):c.1155A>G (p.Pro385=) rs779471673 0.00001
NM_182916.3(TRNT1):c.1235G>A (p.Arg412Gln) rs761145683 0.00001
NM_182916.3(TRNT1):c.1236A>G (p.Arg412=) rs1006625149 0.00001
NM_182916.3(TRNT1):c.1289A>T (p.Tyr430Phe) rs774429750 0.00001
NM_182916.3(TRNT1):c.1296G>A (p.Lys432=) rs1014393756 0.00001
NM_182916.3(TRNT1):c.1305A>C (p.Ter435Tyr) rs1312301408 0.00001
NM_182916.3(TRNT1):c.145A>G (p.Thr49Ala) rs1704830773 0.00001
NM_182916.3(TRNT1):c.149-16T>C rs766739333 0.00001
NM_182916.3(TRNT1):c.149-9T>C rs1705382741 0.00001
NM_182916.3(TRNT1):c.170A>G (p.His57Arg) rs1488255780 0.00001
NM_182916.3(TRNT1):c.172G>A (p.Glu58Lys) rs768028459 0.00001
NM_182916.3(TRNT1):c.1A>G (p.Met1Val) rs779568831 0.00001
NM_182916.3(TRNT1):c.218_219insGAGGGATTTATTAAATTATAAATTTATTAAATGGATTTATTAAA (p.Val73_Lys74insArgAspLeuLeuAsnTyrLysPheIleLysTrpIleTyrTer) rs746154279 0.00001
NM_182916.3(TRNT1):c.251C>G (p.Ala84Gly) rs976462533 0.00001
NM_182916.3(TRNT1):c.262C>G (p.Gln88Glu) rs1439134079 0.00001
NM_182916.3(TRNT1):c.27C>T (p.His9=) rs776254990 0.00001
NM_182916.3(TRNT1):c.284C>T (p.Ser95Leu) rs1287896952 0.00001
NM_182916.3(TRNT1):c.285G>A (p.Ser95=) rs768744806 0.00001
NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp) rs759826831 0.00001
NM_182916.3(TRNT1):c.297G>A (p.Arg99=) rs1239457572 0.00001
NM_182916.3(TRNT1):c.298A>G (p.Met100Val) rs996280968 0.00001
NM_182916.3(TRNT1):c.31C>G (p.Pro11Ala) rs769556416 0.00001
NM_182916.3(TRNT1):c.320A>G (p.Lys107Arg) rs764696586 0.00001
NM_182916.3(TRNT1):c.322C>G (p.His108Asp) rs1159782126 0.00001
NM_182916.3(TRNT1):c.33_46del (p.Leu13fs) rs763685455 0.00001
NM_182916.3(TRNT1):c.342+11A>G rs779037398 0.00001
NM_182916.3(TRNT1):c.342+12G>T rs1202757381 0.00001
NM_182916.3(TRNT1):c.342+9A>G rs1235151154 0.00001
NM_182916.3(TRNT1):c.376C>T (p.Arg126Trp) rs780385153 0.00001
NM_182916.3(TRNT1):c.38T>C (p.Leu13Pro) rs762748487 0.00001
NM_182916.3(TRNT1):c.435G>A (p.Gln145=) rs753701052 0.00001
NM_182916.3(TRNT1):c.442dup (p.Ala148fs) rs1410048027 0.00001
NM_182916.3(TRNT1):c.449G>A (p.Arg150His) rs1012537748 0.00001
NM_182916.3(TRNT1):c.45T>C (p.Arg15=) rs759180902 0.00001
NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile) rs606231290 0.00001
NM_182916.3(TRNT1):c.481+20C>T rs575404057 0.00001
NM_182916.3(TRNT1):c.482-14T>C rs1352587455 0.00001
NM_182916.3(TRNT1):c.482-20C>T rs773153767 0.00001
NM_182916.3(TRNT1):c.493A>G (p.Thr165Ala) rs754369247 0.00001
NM_182916.3(TRNT1):c.4C>T (p.Leu2=) rs559472880 0.00001
NM_182916.3(TRNT1):c.505T>C (p.Tyr169His) rs1705867660 0.00001
NM_182916.3(TRNT1):c.557A>T (p.His186Leu) rs1433500811 0.00001
NM_182916.3(TRNT1):c.609-18G>A rs758866961 0.00001
NM_182916.3(TRNT1):c.609-26T>C rs876661299 0.00001
NM_182916.3(TRNT1):c.622_623del (p.Ile208fs) rs1259648157 0.00001
NM_182916.3(TRNT1):c.638G>C (p.Gly213Ala) rs745817126 0.00001
NM_182916.3(TRNT1):c.716G>C (p.Trp239Ser) rs753464075 0.00001
NM_182916.3(TRNT1):c.748C>G (p.His250Asp) rs1453297459 0.00001
NM_182916.3(TRNT1):c.74A>C (p.Gln25Pro) rs764391872 0.00001
NM_182916.3(TRNT1):c.750T>C (p.His250=) rs996651581 0.00001
NM_182916.3(TRNT1):c.763A>G (p.Ile255Val) rs776889080 0.00001
NM_182916.3(TRNT1):c.781C>A (p.Leu261Ile) rs116700675 0.00001
NM_182916.3(TRNT1):c.808C>T (p.Pro270Ser) rs776704386 0.00001
NM_182916.3(TRNT1):c.818C>G (p.Ala273Gly) rs1489444334 0.00001
NM_182916.3(TRNT1):c.833T>G (p.Phe278Cys) rs1424196039 0.00001
NM_182916.3(TRNT1):c.886T>G (p.Leu296Val) rs374592904 0.00001
NM_182916.3(TRNT1):c.933G>A (p.Leu311=) rs1575066937 0.00001
NM_182916.3(TRNT1):c.93G>A (p.Lys31=) rs141005872 0.00001
NM_182916.3(TRNT1):c.946G>A (p.Ala316Thr) rs753967295 0.00001
NM_198253.3(TERT):c.*339T>C rs920370048 0.00001
NM_198253.3(TERT):c.189G>A (p.Arg63=) rs1554043134 0.00001
NM_198253.3(TERT):c.1939A>C (p.Arg647=) rs144821759 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NM_198253.3(TERT):c.3101G>A (p.Arg1034His) rs62331332 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.880C>T (p.His294Tyr) rs886059906 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NM_206965.2(FTCD):c.1194C>T (p.Phe398=) rs2079118606 0.00001
NM_206965.2(FTCD):c.1261-19T>G rs760892016 0.00001
NM_206965.2(FTCD):c.1273C>T (p.Leu425Phe) rs755340941 0.00001
NM_206965.2(FTCD):c.1305-17C>T rs760169779 0.00001
NM_206965.2(FTCD):c.1314G>A (p.Ala438=) rs777750537 0.00001
NM_206965.2(FTCD):c.1353G>A (p.Pro451=) rs763845321 0.00001
NM_206965.2(FTCD):c.1444-19C>G rs757674235 0.00001
NM_206965.2(FTCD):c.1549C>T (p.Arg517Cys) rs1188352065 0.00001
NM_206965.2(FTCD):c.1589C>T (p.Ala530Val) rs759031386 0.00001
NM_206965.2(FTCD):c.1590A>G (p.Ala530=) rs1381661953 0.00001
NM_206965.2(FTCD):c.200G>A (p.Arg67Gln) rs765154985 0.00001
NM_206965.2(FTCD):c.251G>A (p.Arg84His) rs748347001 0.00001
NM_206965.2(FTCD):c.274C>T (p.Pro92Ser) rs749149640 0.00001
NM_206965.2(FTCD):c.282C>T (p.Ile94=) rs368164003 0.00001
NM_206965.2(FTCD):c.363G>T (p.Val121=) rs2079329446 0.00001
NM_206965.2(FTCD):c.521C>T (p.Thr174Met) rs757064013 0.00001
NM_206965.2(FTCD):c.534G>A (p.Ala178=) rs557774996 0.00001
NM_206965.2(FTCD):c.774+4A>G rs759550771 0.00001
NM_206965.2(FTCD):c.842C>T (p.Ala281Val) rs752941882 0.00001
NM_206965.2(FTCD):c.94G>T (p.Gly32Cys) rs573745632 0.00001
NR_001566.1(TERC):n.450G>A rs199422287 0.00001
46;XX;t(4;14)(p15.2;q13)dn
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
CP, IVS10DS, G-A, +5
FANCB, 3314-BP DEL
FANCC, 250-BP DEL
G6PD A-
G6PD Amsterdam rs2070404412
G6PD NARA rs587776730
G6PD VARNSDORF rs2070350009
G6PD ZURICH rs2070350038
GRCh37/hg19 16p12.2(chr16:23614483-23619333)x1
GRCh37/hg19 16q24.3(chr16:89620873-89881041)
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
GRCh37/hg19 17q22(chr17:56787220-56811584)x1
GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
GRCh37/hg19 1q23.1(chr1:158655335-158667812)
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
GRCh37/hg19 Xq28(chrX:153138672-153665655)
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
HBB, 106-KB DEL
MTR, IVS6AS, G-A, LYS203
MTRR, 4-BP DEL, NT1675
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
NC_000001.10:g.(?_236959004)_(237060944_?)dup
NC_000001.10:g.(?_237060286)_(237060944_?)dup
NC_000001.10:g.(?_24021140)_(24022863_?)del
NC_000001.10:g.(?_45965995)_(45966095_?)del
NC_000001.10:g.(?_45966005)_(45977106_?)dup
NC_000001.10:g.(?_45974458)_(45974897_?)del
NC_000001.10:g.(?_93297672)_(93307422_?)del
NC_000001.10:g.(?_93306098)_(93307422_?)dup
NC_000001.11:g.(?_236795684)_(236897664_?)del
NC_000001.11:g.(?_23691814)_(23696383_?)del
NC_000001.11:g.(?_23691824)_(23696373_?)del
NC_000001.11:g.(?_23695788)_(23696383_?)del
NC_000001.11:g.(?_45500323)_(45509225_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NC_000001.11:g.(?_92832109)_(92833666_?)del
NC_000001.11:g.155301478C>G rs2148221101
NC_000002.11:g.(?_150438631)_(150438795_?)del
NC_000002.11:g.(?_150443583)_(150443611_?)del
NC_000002.11:g.(?_150443583)_(150443631_?)del
NC_000002.11:g.(?_3391395)_(3624240_?)dup
NC_000002.11:g.(?_3391395)_(3691708_?)dup
NC_000002.11:g.(?_3622941)_(3628472_?)dup
NC_000002.11:g.(?_58386900)_(58390229_?)dup
NC_000002.11:g.(?_58386900)_(58393029_?)dup
NC_000002.11:g.(?_58386900)_(58459267_?)del
NC_000002.11:g.(?_58386900)_(58468448_?)dup
NC_000002.11:g.(?_58425719)_(58433394_?)del
NC_000002.11:g.(?_58459169)_(58468448_?)del
NC_000002.11:g.(?_58468333)_(58468448_?)del
NC_000002.12:g.(?_149569954)_(149587117_?)del
NC_000002.12:g.(?_149569964)_(149587107_?)del
NC_000002.12:g.(?_58159755)_(58165884_?)del
NC_000002.12:g.(?_58159755)_(58241323_?)del
NC_000002.12:g.(?_58159755)_(58241323_?)dup
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
NC_000002.12:g.58232113del
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
NC_000003.11:g.(?_10070342)_(10074666_?)del
NC_000003.11:g.(?_10070342)_(10094191_?)del
NC_000003.11:g.(?_10070342)_(10140634_?)del
NC_000003.11:g.(?_10070342)_(10191719_?)del
NC_000003.11:g.(?_10074510)_(10085282_?)del
NC_000003.11:g.(?_10080953)_(10085558_?)del
NC_000003.11:g.(?_10084233)_(10085286_?)del
NC_000003.11:g.(?_10084233)_(10085558_?)dup
NC_000003.11:g.(?_10091048)_(10140634_?)del
NC_000003.11:g.(?_10105466)_(10107188_?)del
NC_000003.11:g.(?_10108063)_(10114567_?)del
NC_000003.11:g.(?_10127476)_(10136978_?)del
NC_000003.11:g.(?_10127486)_(10140634_?)dup
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NC_000003.11:g.(?_10130113)_(10133956_?)del
NC_000003.11:g.(?_10132039)_(10132856_?)del
NC_000003.11:g.(?_10138000)_(10140634_?)del
NC_000003.11:g.(?_148847511)_(148906009_?)dup
NC_000003.11:g.(?_197680864)_(197682644_?)del
NC_000003.11:g.(?_3170725)_(3189838_?)del
NC_000003.11:g.(?_3170725)_(3189838_?)dup
NC_000003.11:g.(?_3179743)_(3189406_?)del
NC_000003.11:g.(?_3186248)_(3189838_?)del
NC_000003.12:g.(10028722_10032831)_(10049506_10052386)del
NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup
NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del
NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del
NC_000003.12:g.(?_10028648)_(10043874_?)del
NC_000003.12:g.(?_10028648)_(10043874_?)dup
NC_000003.12:g.(?_10028648)_(10046733_?)del
NC_000003.12:g.(?_10064723)_(10146642_?)del
NC_000003.12:g.(?_10090282)_(10098950_?)dup
NC_000003.12:g.(?_149173694)_(149182153_?)del
NC_000003.12:g.(?_149206148)_(149206359_?)del
NC_000003.12:g.(?_197950958)_(197955783_?)del
NC_000003.12:g.(?_197950958)_(197955783_?)dup
NC_000003.12:g.(?_197950962)_(197955779_?)del
NC_000003.12:g.(?_197950968)_(197955773_?)dup
NC_000003.12:g.(?_3129021)_(3148174_?)dup
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000004.12:g.(99601399_99613000)del
NC_000005.10:g.(?_7869114)_(7900078_?)del
NC_000005.10:g.(?_7877934)_(7878332_?)del
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(?_7870908)_(7871056_?)del
NC_000005.9:g.(?_7870908)_(7900171_?)del
NC_000005.9:g.(?_7870908)_(7900171_?)dup
NC_000005.9:g.(?_7875361)_(7875498_?)del
NC_000005.9:g.(?_7889198)_(7897370_?)del
NC_000005.9:g.(?_7895827)_(7900171_?)dup
NC_000006.11:g.(?_34385283)_(34392998_?)dup
NC_000006.11:g.(?_35420323)_(35424150_?)dup
NC_000006.11:g.(?_35420323)_(35434122_?)dup
NC_000006.11:g.(?_35423579)_(35424285_?)del
NC_000006.11:g.(?_35423579)_35424285del
NC_000006.11:g.(?_35428309)_(35434122_?)dup
NC_000006.11:g.(?_35430556)_(35434122_?)del
NC_000006.11:g.(?_70386050)_(70490466_?)dup
NC_000006.11:g.(?_70386050)_(71012627_?)del
NC_000006.11:g.(?_70459213)_(70462268_?)del
NC_000006.11:g.(?_70490366)_(70506773_?)dup
NC_000006.12:g.(?_34417506)_(34421817_?)del
NC_000006.12:g.69780555del
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
NC_000009.11:g.(?_35072710)_(35079521_?)dup
NC_000009.11:g.(?_97861619)_(97869538_?)del
NC_000009.11:g.(?_97863979)_(97934439_?)del
NC_000009.11:g.(?_97863983)_(98270649_?)dup
NC_000009.11:g.(?_97863989)_(98079991_?)dup
NC_000009.11:g.(?_97873735)_(97897794_?)del
NC_000009.11:g.(?_97876901)_(97879682_?)del
NC_000009.11:g.(?_97876901)_(97934439_?)dup
NC_000009.11:g.(?_97897618)_(97912379_?)del
NC_000009.11:g.(?_98002921)_(98011661_?)del
NC_000009.11:g.(?_98002921)_(98079991_?)dup
NC_000009.11:g.(?_98009704)_(98009808_?)del
NC_000009.11:g.(?_98079798)_(98279100_?)del
NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del
NC_000009.12:g.(95240744_95247431)_(95317709_?)del
NC_000009.12:g.(?_35076714)_(35077111_?)del
NC_000009.12:g.(?_95101700)_(95508367_?)del
NC_000009.12:g.(?_95107056)_(95107279_?)del
NC_000009.12:g.(?_95114619)_(95114720_?)del
NC_000009.12:g.(?_95135336)_(95135512_?)del
NC_000009.12:g.(?_95135336)_(95249379_?)del
NC_000009.12:g.(?_95149913)_(95172157_?)del
NC_000009.12:g.(?_95171069)_(95172157_?)dup
NC_000009.12:g.(?_95240639)_(95240753_?)del
NC_000009.12:g.35079242del
NC_000010.10:g.(?_16866974)_(16867101_?)del
NC_000010.10:g.(?_16866974)_(18828653_?)dup
NC_000010.10:g.(?_16961942)_(16970322_?)del
NC_000010.10:g.(?_79795104)_(79799970_?)dup
NC_000010.10:g.(?_79799952)_(79799964_?)dup
NC_000010.11:g.(?_78033902)_(78033914_?)del
NC_000011.10:g.(?_5225465)_(5227072_?)del
NC_000011.10:g.5216940_5229551del
NC_000011.10:g.5218346_5226066del
NC_000011.10:g.5224303_5227790del
NC_000011.10:g.5225158_5227199del2042insCTTAT
NC_000011.10:g.5225895_5227411del1517insT
NC_000011.10:g.5226452_5228055del
NC_000011.10:g.5226570_5233984del
NC_000011.10:g.5226641_5227549del
NC_000011.10:g.5226948_5227485del rs1847582308
NC_000011.10:g.5226992_5227096del rs1847587051
NC_000011.10:g.5226994_5227525del rs1847587350
NC_000011.10:g.5227096C>A rs63750400
NC_000011.10:g.5227097T>G rs281864525
NC_000011.10:g.5227098T>A rs1847591425
NC_000011.10:g.5227101A>C rs33980857
NC_000011.10:g.5227131_5227256del rs1847592245
NC_000011.10:g.5227147G>T rs1847592435
NC_000011.10:g.5250015G>A rs1554921759
NC_000011.10:g.5284251_5289110del
NC_000011.9:g.(5246957_5247806)_(5248302_?)del
NC_000011.9:g.(?_22644078)_(22647388_?)del
NC_000011.9:g.(?_22644079)_(22647387_?)dup
NC_000011.9:g.(?_22646226)_(22647362_?)dup
NC_000011.9:g.(?_22646232)_(22647356_?)dup
NC_000011.9:g.(?_59603261)_(59604844_?)dup
NC_000012.10:g.54711095_54731551del
NC_000012.11:g.(?_56396006)_(56437938_?)del
NC_000012.11:g.(?_56435951)_(56437938_?)dup
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
NC_000014.8:g.(?_44820816)_(45645917_?)del
NC_000014.8:g.(?_45605225)_(45609922_?)dup
NC_000014.8:g.(?_45605235)_(45609922_?)del
NC_000014.8:g.(?_45605235)_(45669211_?)dup
NC_000014.8:g.(?_45618020)_(45669211_?)del
NC_000014.8:g.(?_45618030)_(45618208_?)del
NC_000014.8:g.(?_45618030)_(45633778_?)del
NC_000014.8:g.(?_45618030)_(45646189_?)del
NC_000014.8:g.(?_45623113)_(45669211_?)del
NC_000014.8:g.(?_45628293)_(45628489_?)dup
NC_000014.8:g.(?_45630372)_(45633544_?)del
NC_000014.8:g.(?_45636143)_(45665760_?)del
NC_000014.8:g.(?_45639782)_(45669211_?)del
NC_000014.8:g.(?_45642248)_(45669211_?)del
NC_000014.8:g.(?_45654410)_(45657100_?)del
NC_000014.8:g.(?_74766231)_(74769615_?)del
NC_000014.9:g.(?_102870182)_(102930700_?)del
NC_000014.9:g.(?_45136032)_(45200008_?)del
NC_000014.9:g.(?_45153910)_(45200018_?)del
NC_000014.9:g.(?_45164349)_(45164575_?)del
NC_000014.9:g.(?_45166940)_(45167173_?)del
NC_000014.9:g.95696766_96390792dup
NC_000015.10:g.(?_89247629)_(89317131_?)del
NC_000015.10:g.(?_89290203)_(89291724_?)del
NC_000015.9:g.(?_89790873)_(89876991_?)del
NC_000015.9:g.(?_89790879)_(89825086_?)dup
NC_000015.9:g.(?_89790879)_(89859690_?)dup
NC_000015.9:g.(?_89801915)_(89802027_?)del
NC_000015.9:g.(?_89801915)_(89828469_?)del
NC_000015.9:g.(?_89811610)_(89817555_?)del
NC_000015.9:g.(?_89828307)_(89828469_?)del
NC_000015.9:g.(?_89843021)_(89860052_?)del
NC_000015.9:g.(?_89858493)_(89860078_?)del
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del
NC_000016.10:g.(89739290_89739477)_(89783103_89784853)del
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del
NC_000016.10:g.(89740100_89740803)_(89740867_89742799)del
NC_000016.10:g.(89740100_89740803)_(89799233_89799604)del
NC_000016.10:g.(89740100_89740803)_(89816657_?)del
NC_000016.10:g.(89740867_89742799)_(89779958_89782858)del
NC_000016.10:g.(89740867_89742799)_(89816657_?)del
NC_000016.10:g.(89742939_89744958)_(89745072_89746583)del
NC_000016.10:g.(89742939_89744958)_(89748768_89749729)del
NC_000016.10:g.(89742939_89744958)_(89767238_89769836)del
NC_000016.10:g.(89742939_89744958)_(89816657_?)del
NC_000016.10:g.(89746891_89748658)_(89752223_89758576)del
NC_000016.10:g.(89746891_89748658)_(89770025_89770165)del
NC_000016.10:g.(89746891_89748658)_(89770635_89771677)del
NC_000016.10:g.(89746891_89748658)_(89771815_89773270)del
NC_000016.10:g.(89746891_89748658)_(89796019_89799165)del
NC_000016.10:g.(89748768_89749729)_(89758706_89761948)del
NC_000016.10:g.(89748768_89749729)_(89765067_89767140)del
NC_000016.10:g.(89749903_89752137)_(89758706_89761948)del
NC_000016.10:g.(89749903_89752137)_(89792548_89795905)del
NC_000016.10:g.(89749903_89752137)_(89816657_?)del
NC_000016.10:g.(89752223_89758576)_(89762023_89764889)del
NC_000016.10:g.(89752223_89758576)_(89765067_89767140)del
NC_000016.10:g.(89752223_89758576)_(89767238_89769836)del
NC_000016.10:g.(89752223_89758576)_(89773385_89775741)del
NC_000016.10:g.(89752223_89758576)_(89775816_89778800)del
NC_000016.10:g.(89752223_89758576)_(89783103_89784853)del
NC_000016.10:g.(89752223_89758576)_(89816657_?)del
NC_000016.10:g.(89758706_89761948)_(89765067_89767140)del
NC_000016.10:g.(89758706_89761948)_(89771815_89773270)del
NC_000016.10:g.(89758706_89761948)_(89773385_89775741)del
NC_000016.10:g.(89758706_89761948)_(89775816_89778800)del
NC_000016.10:g.(89758706_89761948)_(89779958_89782858)del
NC_000016.10:g.(89758706_89761948)_(89784965_89791402)del
NC_000016.10:g.(89758706_89761948)_(89805393_89808293)del
NC_000016.10:g.(89762023_89764889)_(89765067_89767140)del
NC_000016.10:g.(89762023_89764889)_(89770635_89771677)del
NC_000016.10:g.(89762023_89764889)_(89773385_89775741)del
NC_000016.10:g.(89762023_89764889)_(89775816_89778800)del
NC_000016.10:g.(89762023_89764889)_(89784965_89791402)del
NC_000016.10:g.(89765067_89767140)_(89803342_89805279)del
NC_000016.10:g.(89767238_89769836)_(89775816_89778800)del
NC_000016.10:g.(89767238_89769836)_(89783103_89784853)del
NC_000016.10:g.(89767238_89769836)_(89811072_89814519)del
NC_000016.10:g.(89770025_89770165)_(89779958_89782858)del
NC_000016.10:g.(89770025_89770165)_(89792069_89792470)del
NC_000016.10:g.(89770635_89771677)_(89771815_89773270)del
NC_000016.10:g.(89770635_89771677)_(89779958_89782858)del
NC_000016.10:g.(89770635_89771677)_(89783103_89784853)del
NC_000016.10:g.(89770635_89771677)_(89784965_89791402)del
NC_000016.10:g.(89770635_89771677)_(89792548_89795905)del
NC_000016.10:g.(89771815_89773270)_(89775816_89778800)del
NC_000016.10:g.(89771815_89773270)_(89778851_89778942)del
NC_000016.10:g.(89771815_89773270)_(89783103_89784853)del
NC_000016.10:g.(89771815_89773270)_(89816657_?)del
NC_000016.10:g.(89773385_89775741)_(89775816_89778800)del
NC_000016.10:g.(89773385_89775741)_(89779958_89782858)del
NC_000016.10:g.(89773385_89775741)_(89784965_89791402)dup
NC_000016.10:g.(89773385_89775741)_(89796019_89799165)del
NC_000016.10:g.(89773385_89775741)_(89799639_89803258)del
NC_000016.10:g.(89773385_89775741)_(89808368_89810706)del
NC_000016.10:g.(89773385_89775741)_(89816657_?)del
NC_000016.10:g.(89775816_89778800)_(89778851_89778942)del
NC_000016.10:g.(89775816_89778800)_(89783103_89784853)del
NC_000016.10:g.(89775816_89778800)_(89784965_89791402)del
NC_000016.10:g.(89775816_89778800)_(89796019_89799165)del
NC_000016.10:g.(89775816_89778800)_(89805393_89808293)del
NC_000016.10:g.(89775816_89778800)_(89808368_89810706)del
NC_000016.10:g.(89775816_89778800)_(89816657_?)del
NC_000016.10:g.(89778851_89778942)_(89779004_89779868)del
NC_000016.10:g.(89779004_89779868)_(89779958_89782858)del
NC_000016.10:g.(89779004_89779868)_(89783103_89784853)del
NC_000016.10:g.(89779004_89779868)_(89799639_89803258)del
NC_000016.10:g.(89779958_89782858)_(89784965_89791402)del
NC_000016.10:g.(89779958_89782858)_(89796019_89799165)del
NC_000016.10:g.(89779958_89782858)_(89799233_89799604)del
NC_000016.10:g.(89779958_89782858)_(89805393_89808293)del
NC_000016.10:g.(89782919_89783006)_(89783103_89784853)del
NC_000016.10:g.(89783103_89784853)_(89784965_89791402)del
NC_000016.10:g.(89784965_89791402)_(89792069_89792470)del
NC_000016.10:g.(89784965_89791402)_(89792548_89795905)del
NC_000016.10:g.(89784965_89791402)_(89796019_89799165)del
NC_000016.10:g.(89784965_89791402)_(89799639_89803258)del
NC_000016.10:g.(89784965_89791402)_(89805393_89808293)del
NC_000016.10:g.(89784965_89791402)_(89808368_89810706)del
NC_000016.10:g.(89784965_89791402)_(89816657_?)del
NC_000016.10:g.(89791537_89791926)_(89792069_89792470)del
NC_000016.10:g.(89791537_89791926)_(89799233_89799604)del
NC_000016.10:g.(89792069_89792470)_(89799233_89799604)del
NC_000016.10:g.(89792069_89792470)_(89816657_?)del
NC_000016.10:g.(89792548_89795905)_(89803342_89805279)del
NC_000016.10:g.(89792548_89795905)_(89805393_89808293)del
NC_000016.10:g.(89792548_89795905)_(89816657_?)del
NC_000016.10:g.(89799233_89799604)_(89799639_89803258)del
NC_000016.10:g.(89799639_89803258)_(89805393_89808293)del
NC_000016.10:g.(89799639_89803258)_(89811072_89814519)del
NC_000016.10:g.(89803342_89805279)_(89805393_89808293)del
NC_000016.10:g.(89803342_89805279)_(89816657_?)del
NC_000016.10:g.(89805279_89805393)_(89816657_?)del
NC_000016.10:g.(89805393_89808293)_(89808368_89810706)del
NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del
NC_000016.10:g.(89805393_89808293)_(89816657_?)del
NC_000016.10:g.(89808368_89810706)_(89810803_89810928)del
NC_000016.10:g.(89808368_89810706)_(89811072_89814519)del
NC_000016.10:g.(89808368_89810706)_(89815987_89816536)del
NC_000016.10:g.(89808368_89810706)_(89816657_?)del
NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del
NC_000016.10:g.(89814614_89815876)_(89816657_?)del
NC_000016.10:g.(89815987_89816536)_(89816657_?)del
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.10:g.(?_3606464)_(3608974_?)del
NC_000016.10:g.(?_3608430)_(3609566_?)del
NC_000016.10:g.(?_89737551)_(89740100_89740803)del
NC_000016.10:g.(?_89737551)_(89740867_89742799)del
NC_000016.10:g.(?_89737551)_(89752222_89758576)del
NC_000016.10:g.(?_89737551)_(89752223_89758576)del
NC_000016.10:g.(?_89737551)_(89758706_89761948)del
NC_000016.10:g.(?_89737551)_(89765067_89767140)del
NC_000016.10:g.(?_89737551)_(89767238_89769836)del
NC_000016.10:g.(?_89737551)_(89784965_89791402)del
NC_000016.10:g.(?_89737551)_(89799639_89803258)del
NC_000016.10:g.(?_89737551)_(89814614_89815876)del
NC_000016.10:g.(?_89737551)_(89815987_89816536)del
NC_000016.10:g.(?_89737551)_(89816657_?)del
NC_000016.10:g.(?_89738591)_(89742948_?)del
NC_000016.10:g.(?_89738591)_(89762032_?)del
NC_000016.10:g.(?_89738591)_(89816625_?)del
NC_000016.10:g.(?_89738591)_(89920222_?)del
NC_000016.10:g.(?_89738601)_(89816616_?)dup
NC_000016.10:g.(?_89748641)_(89758720_?)del
NC_000016.10:g.(?_89748641)_(89765076_?)del
NC_000016.10:g.(?_89748649)_(89758715_?)del
NC_000016.10:g.(?_89748649)_(89765076_?)del
NC_000016.10:g.(?_89752128)_(89792557_?)del
NC_000016.10:g.(?_89752128)_(89808377_?)del
NC_000016.10:g.(?_89752128)_(89816625_?)del
NC_000016.10:g.(?_89752138)_(89792547_?)del
NC_000016.10:g.(?_89758567)_(89762032_?)dup
NC_000016.10:g.(?_89758567)_(89784974_?)del
NC_000016.10:g.(?_89758567)_(89808377_?)del
NC_000016.10:g.(?_89758571)_(89784970_?)del
NC_000016.10:g.(?_89761939)_(89765076_?)del
NC_000016.10:g.(?_89761939)_(89816616_?)del
NC_000016.10:g.(?_89761943)_(89920218_?)del
NC_000016.10:g.(?_89764807)_(89775825_?)del
NC_000016.10:g.(?_89764807)_(89779967_?)del
NC_000016.10:g.(?_89764807)_(89805402_?)del
NC_000016.10:g.(?_89764880)_(89773394_?)del
NC_000016.10:g.(?_89764884)_(89779963_?)del
NC_000016.10:g.(?_89767131)_(89784974_?)del
NC_000016.10:g.(?_89767131)_(89799648_?)del
NC_000016.10:g.(?_89767135)_(89816621_?)del
NC_000016.10:g.(?_89775736)_(89775821_?)del
NC_000016.10:g.(?_89778791)_(89779967_?)del
NC_000016.10:g.(?_89778791)_(89816625_?)del
NC_000016.10:g.(?_89782849)_(89796028_?)del
NC_000016.10:g.(?_89782853)_(89784970_?)del
NC_000016.10:g.(?_89784844)_(89784974_?)del
NC_000016.10:g.(?_89791393)_(89796028_?)del
NC_000016.10:g.(?_89791393)_(89799648_?)del
NC_000016.10:g.(?_89791393)_(89811081_?)del
NC_000016.10:g.(?_89791397)_(89792553_?)del
NC_000016.10:g.(?_89791402)_(89816615_?)del
NC_000016.10:g.(?_89791403)_(89796018_?)del
NC_000016.10:g.(?_89795896)_(89805402_?)del
NC_000016.10:g.(?_89798246)_(89799648_?)del
NC_000016.10:g.(?_89799156)_(89799648_?)del
NC_000016.10:g.(?_89803249)_(89808377_?)del
NC_000016.10:g.(?_89803249)_(89811081_?)del
NC_000016.10:g.(?_89808284)_(89816616_?)del
NC_000016.10:g.(?_89808284)_(89816625_?)del
NC_000016.10:g.(?_89810697)_(89816616_?)del
NC_000016.10:g.(?_89810701)_(89816621_?)del
NC_000016.10:g.(?_89814510)_(89816616_?)dup
NC_000016.10:g.(?_89814510)_(89816625_?)del
NC_000016.10:g.(?_89814514)_(89816621_?)del
NC_000016.10:g.(?_89815867)_(89816625_?)del
NC_000016.10:g.13919809A>C rs6498486
NC_000016.10:g.88317551_88325754del
NC_000016.10:g.88322074_88332073del
NC_000016.10:g.88334974_88341919del
NC_000016.10:g.88335235_88340023del
NC_000016.10:g.88341728_88343606del
NC_000016.10:g.88342678_88348626del
NC_000016.10:g.89746689dup
NC_000016.10:g.89748659_89762022del
NC_000016.10:g.89752141_89762025del
NC_000016.10:g.89754008_89816657del
NC_000016.10:g.89807755_89816658del
NC_000016.9:g.(89815176_89816137)_(89866047_89869666)del
NC_000016.9:g.(89816311_89818545)_(89871801_89874701)del
NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del
NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
NC_000016.9:g.(89877480_89880927)_(89883066_?)del
NC_000016.9:g.(?_13915808)_(14724045_?)dup
NC_000016.9:g.(?_14020398)_(14022112_?)del
NC_000016.9:g.(?_14031613)_(14031725_?)del
NC_000016.9:g.(?_14038570)_(14038702_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)dup
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NC_000016.9:g.(?_3632337)_(3658971_?)dup
NC_000016.9:g.(?_3632343)_(3633531_?)del
NC_000016.9:g.(?_3632343)_(3658965_?)del
NC_000016.9:g.(?_3634750)_(3634892_?)dup
NC_000016.9:g.(?_3634760)_(3634882_?)del
NC_000016.9:g.(?_3634764)_(3634878_?)dup
NC_000016.9:g.(?_3638993)_(3658965_?)dup
NC_000016.9:g.(?_3658425)_(3658971_?)del
NC_000016.9:g.(?_89556653)_(89851392_?)dup
NC_000016.9:g.(?_89611036)_(90106937_?)dup
NC_000016.9:g.(?_89712474)_(89866066_?)del
NC_000016.9:g.(?_89804999)_(89825128_?)del
NC_000016.9:g.(?_89804999)_(89871810_?)del
NC_000016.9:g.(?_89804999)_(89874785_?)del
NC_000016.9:g.(?_89805009)_(89806517_?)del
NC_000016.9:g.(?_89805009)_(89809366_?)dup
NC_000016.9:g.(?_89805009)_(89813308_?)dup
NC_000016.9:g.(?_89805009)_(89825123_?)del
NC_000016.9:g.(?_89805009)_(89831484_?)dup
NC_000016.9:g.(?_89805009)_(89833665_?)del
NC_000016.9:g.(?_89805009)_(89851382_?)del
NC_000016.9:g.(?_89805009)_(89858965_?)dup
NC_000016.9:g.(?_89805009)_(89866066_?)dup
NC_000016.9:g.(?_89805009)_(89883024_?)del
NC_000016.9:g.(?_89805270)_(89806527_?)dup
NC_000016.9:g.(?_89805270)_(89807294_?)dup
NC_000016.9:g.(?_89807202)_(89883024_?)del
NC_000016.9:g.(?_89809188)_(89846385_?)del
NC_000016.9:g.(?_89809198)_(89809356_?)del
NC_000016.9:g.(?_89809198)_(89833655_?)del
NC_000016.9:g.(?_89809198)_(89842233_?)del
NC_000016.9:g.(?_89811347)_(89849530_?)del
NC_000016.9:g.(?_89811357)_(89815185_?)del
NC_000016.9:g.(?_89811357)_(89842233_?)del
NC_000016.9:g.(?_89811357)_(89851382_?)dup
NC_000016.9:g.(?_89811367)_(89851372_?)dup
NC_000016.9:g.(?_89815047)_(89816330_?)del
NC_000016.9:g.(?_89815049)_(89883033_?)del
NC_000016.9:g.(?_89816056)_(89816320_?)del
NC_000016.9:g.(?_89816056)_(89816320_?)dup
NC_000016.9:g.(?_89816056)_(89849520_?)del
NC_000016.9:g.(?_89818526)_(89833665_?)dup
NC_000016.9:g.(?_89818526)_(89874795_?)del
NC_000016.9:g.(?_89818536)_(89818822_?)del
NC_000016.9:g.(?_89818536)_(89818822_?)dup
NC_000016.9:g.(?_89818536)_(89825128_?)del
NC_000016.9:g.(?_89818536)_(89839802_?)del
NC_000016.9:g.(?_89818536)_(89846375_?)del
NC_000016.9:g.(?_89818536)_(89877489_?)del
NC_000016.9:g.(?_89824965)_(89825133_?)del
NC_000016.9:g.(?_89824965)_(89883023_?)dup
NC_000016.9:g.(?_89824975)_(89828440_?)del
NC_000016.9:g.(?_89824975)_(89839802_?)del
NC_000016.9:g.(?_89824975)_(89842233_?)del
NC_000016.9:g.(?_89824975)_(89883033_?)del
NC_000016.9:g.(?_89824976)_(89831435_?)del
NC_000016.9:g.(?_89825110)_(89923062_?)del
NC_000016.9:g.(?_89828347)_(89839802_?)del
NC_000016.9:g.(?_89828347)_(89842233_?)del
NC_000016.9:g.(?_89828347)_(89846375_?)dup
NC_000016.9:g.(?_89828347)_(89862436_?)del
NC_000016.9:g.(?_89828347)_(89874785_?)del
NC_000016.9:g.(?_89831215)_(89831494_?)del
NC_000016.9:g.(?_89831215)_(89849520_?)del
NC_000016.9:g.(?_89831215)_(89874785_?)del
NC_000016.9:g.(?_89831292)_(89833651_?)del
NC_000016.9:g.(?_89833539)_(89833655_?)del
NC_000016.9:g.(?_89833539)_(89839802_?)del
NC_000016.9:g.(?_89833539)_(89842233_?)del
NC_000016.9:g.(?_89833539)_(89858965_?)del
NC_000016.9:g.(?_89833539)_(89862436_?)del
NC_000016.9:g.(?_89836111)_(89839802_?)del
NC_000016.9:g.(?_89836111)_(89858965_?)del
NC_000016.9:g.(?_89836111)_(89883033_?)del
NC_000016.9:g.(?_89836805)_(89883033_?)del
NC_000016.9:g.(?_89836962)_(89838232_?)del
NC_000016.9:g.(?_89838076)_(89842233_?)del
NC_000016.9:g.(?_89838076)_(89858965_?)del
NC_000016.9:g.(?_89838076)_(89874785_?)del
NC_000016.9:g.(?_89838076)_(89883033_?)del
NC_000016.9:g.(?_89839659)_(89851392_?)del
NC_000016.9:g.(?_89839669)_(89866056_?)del
NC_000016.9:g.(?_89842130)_(89883023_?)dup
NC_000016.9:g.(?_89842140)_(89842233_?)del
NC_000016.9:g.(?_89842140)_(89845421_?)del
NC_000016.9:g.(?_89842140)_(89846375_?)del
NC_000016.9:g.(?_89842140)_(89851382_?)del
NC_000016.9:g.(?_89842140)_(89851382_?)dup
NC_000016.9:g.(?_89842140)_(89866056_?)del
NC_000016.9:g.(?_89845199)_(89849520_?)del
NC_000016.9:g.(?_89845199)_(89866056_?)del
NC_000016.9:g.(?_89845199)_(89871810_?)del
NC_000016.9:g.(?_89845199)_(89874785_?)del
NC_000016.9:g.(?_89846267)_(89883024_?)del
NC_000016.9:g.(?_89849247)_(89866066_?)del
NC_000016.9:g.(?_89849257)_(89871810_?)del
NC_000016.9:g.(?_89849257)_(89874785_?)del
NC_000016.9:g.(?_89857801)_(89858965_?)del
NC_000016.9:g.(?_89857801)_(89874785_?)del
NC_000016.9:g.(?_89857801)_(89881031_?)del
NC_000016.9:g.(?_89862294)_(89883023_?)del
NC_000016.9:g.(?_89862304)_(89866056_?)del
NC_000016.9:g.(?_89862304)_(89869759_?)del
NC_000016.9:g.(?_89864654)_(89866056_?)dup
NC_000016.9:g.(?_89864654)_(89883024_?)del
NC_000016.9:g.(?_89864654)_(89883033_?)del
NC_000016.9:g.(?_89869657)_(89871810_?)del
NC_000016.9:g.(?_89869657)_(89877489_?)dup
NC_000016.9:g.(?_89869657)_(89881031_?)dup
NC_000016.9:g.(?_89871678)_(89877489_?)del
NC_000016.9:g.(?_89874692)_(89881031_?)del
NC_000016.9:g.(?_89877105)_(89877489_?)del
NC_000016.9:g.(?_89880908)_(89883023_?)del
NC_000016.9:g.(?_89880918)_(89881031_?)del
NC_000016.9:g.(?_89880928)_(89883065_?)dup
NC_000016.9:g.(?_89882935)_(89883024_?)dup
NC_000016.9:g.88172538_88337600del
NC_000016.9:g.88224066_88408991del
NC_000016.9:g.88257445_88409236del
NC_000016.9:g.89645037_89810099del
NC_000016.9:g.89839142_89867355del
NC_000016.9:g.89840944_89876535del
NC_000016.9:g.89840966_89866228del
NC_000016.9:g.89844985_89869211del
NC_000016.9:g.89857046_89867362del
NC_000016.9:g.89863188_89878500del
NC_000017.10:g.(?_56432304)_(56811583_?)dup
NC_000017.10:g.(?_56769920)_(56811662_?)del
NC_000017.10:g.(?_56769986)_(56774230_?)del
NC_000017.10:g.(?_56769986)_(56801482_?)dup
NC_000017.10:g.(?_56769995)_(56801471_?)dup
NC_000017.10:g.(?_56769995)_(56811593_?)dup
NC_000017.10:g.(?_56769999)_(56774226_?)dup
NC_000017.10:g.(?_56769999)_(56787357_?)del
NC_000017.10:g.(?_56769999)_(56801467_?)dup
NC_000017.10:g.(?_56769999)_(56811589_?)dup
NC_000017.10:g.(?_56772282)_(56772560_?)del
NC_000017.10:g.(?_56772286)_(56774226_?)dup
NC_000017.10:g.(?_56774044)_(56774230_?)del
NC_000017.10:g.(?_56774149)_(56777997_?)del
NC_000017.10:g.(?_56780547)_(56787361_?)del
NC_000017.10:g.(?_56780547)_(56787361_?)dup
NC_000017.10:g.(?_56780547)_(56811583_?)dup
NC_000017.10:g.(?_56780551)_(56787357_?)del
NC_000017.10:g.(?_56787200)_(56787371_?)del
NC_000017.10:g.(?_56787210)_(56787361_?)dup
NC_000017.10:g.(?_56787214)_(56787357_?)dup
NC_000017.10:g.(?_56798097)_(56798183_?)del
NC_000017.10:g.(?_56798097)_(56801482_?)del
NC_000017.10:g.(?_56798101)_(56798179_?)dup
NC_000017.10:g.(?_56811469)_(56811583_?)del
NC_000017.10:g.(?_59760647)_(59761511_?)dup
NC_000017.10:g.(?_59760647)_(59938910_?)dup
NC_000017.10:g.(?_59760651)_(59938906_?)dup
NC_000017.10:g.(?_59760657)_(59761511_?)del
NC_000017.10:g.(?_59760657)_(59763536_?)del
NC_000017.10:g.(?_59760657)_(59763536_?)dup
NC_000017.10:g.(?_59760657)_(59770883_?)del
NC_000017.10:g.(?_59760657)_(59821962_?)del
NC_000017.10:g.(?_59760657)_(59861805_?)del
NC_000017.10:g.(?_59760657)_(59871100_?)del
NC_000017.10:g.(?_59760657)_(59886138_?)dup
NC_000017.10:g.(?_59760657)_(59934602_?)del
NC_000017.10:g.(?_59760657)_(59938900_?)dup
NC_000017.10:g.(?_59770781)_(59770883_?)del
NC_000017.10:g.(?_59770781)_(59770883_?)dup
NC_000017.10:g.(?_59770781)_(59938900_?)del
NC_000017.10:g.(?_59770785)_(59770879_?)dup
NC_000017.10:g.(?_59820364)_(59886128_?)del
NC_000017.10:g.(?_59820364)_(59886128_?)dup
NC_000017.10:g.(?_59820374)_(59886118_?)dup
NC_000017.10:g.(?_59853752)_(59853933_?)del
NC_000017.10:g.(?_59853752)_(59858376_?)del
NC_000017.10:g.(?_59853752)_(59938900_?)dup
NC_000017.10:g.(?_59853752)_(59938910_?)dup
NC_000017.10:g.(?_59853756)_(59938906_?)dup
NC_000017.10:g.(?_59857612)_(59857772_?)del
NC_000017.10:g.(?_59857612)_(59858376_?)del
NC_000017.10:g.(?_59858191)_(59858864_?)del
NC_000017.10:g.(?_59858191)_(59858864_?)dup
NC_000017.10:g.(?_59861621)_(59861795_?)del
NC_000017.10:g.(?_59861621)_(59937278_?)dup
NC_000017.10:g.(?_59861621)_(59938900_?)dup
NC_000017.10:g.(?_59861625)_(59937274_?)dup
NC_000017.10:g.(?_59861625)_(59938906_?)dup
NC_000017.10:g.(?_59861718)_(59940920_?)del
NC_000017.10:g.(?_59870948)_(59871100_?)del
NC_000017.10:g.(?_59870948)_(59886128_?)dup
NC_000017.10:g.(?_59870952)_(59876666_?)del
NC_000017.10:g.(?_59870952)_(59886124_?)dup
NC_000017.10:g.(?_59876451)_(59886128_?)del
NC_000017.10:g.(?_59878604)_(59878845_?)del
NC_000017.10:g.(?_59878633)_(59883057_?)del
NC_000017.10:g.(?_59878633)_59883038del
NC_000017.10:g.(?_59885818)_(59938900_?)dup
NC_000017.10:g.(?_59885822)_(59938906_?)dup
NC_000017.10:g.(?_59924452)_(59938900_?)del
NC_000017.10:g.(?_59924452)_(59938900_?)dup
NC_000017.10:g.(?_59924456)_(59926623_?)dup
NC_000017.10:g.(?_59924456)_(59938906_?)dup
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.10:g.(?_59926480)_(59926627_?)del
NC_000017.10:g.(?_59926480)_(59934602_?)del
NC_000017.10:g.(?_59937147)_(59937278_?)del
NC_000017.10:g.(?_59937147)_(59938900_?)del
NC_000017.10:g.(?_59937147)_(59938900_?)dup
NC_000017.10:g.(?_59938798)_(59938900_?)dup
NC_000017.10:g.(?_8131498)_(8285628_?)dup
NC_000017.10:g.(?_8136214)_(8285628_?)del
NC_000017.10:g.(?_8192101)_(8283260_?)dup
NC_000017.10:g.(?_8280834)_(8283254_?)dup
NC_000017.11:g.(?_58692625)_(58696869_?)dup
NC_000017.11:g.(?_58692625)_(58710000_?)del
NC_000017.11:g.(?_58692625)_(58710000_?)dup
NC_000017.11:g.(?_58692625)_(58734222_?)del
NC_000017.11:g.(?_58692634)_(58692798_?)del
NC_000017.11:g.(?_58692634)_(58692798_?)dup
NC_000017.11:g.(?_58692634)_(58703339_?)del
NC_000017.11:g.(?_58692634)_(58710000_?)del
NC_000017.11:g.(?_58692634)_(58710000_?)dup
NC_000017.11:g.(?_58692634)_(58734232_?)del
NC_000017.11:g.(?_58692638)_(58734228_?)del
NC_000017.11:g.(?_58696687)_(58696865_?)del
NC_000017.11:g.(?_58703186)_(58703339_?)del
NC_000017.11:g.(?_58703186)_(58703339_?)dup
NC_000017.11:g.(?_58703186)_(58734222_?)del
NC_000017.11:g.(?_58703186)_(58734232_?)del
NC_000017.11:g.(?_58703196)_(58709990_?)del
NC_000017.11:g.(?_58709849)_(58710000_?)del
NC_000017.11:g.(?_58709849)_(58734222_?)del
NC_000017.11:g.(?_58709849)_(58734232_?)del
NC_000017.11:g.(?_58709849)_(58734232_?)dup
NC_000017.11:g.(?_58709853)_(58709996_?)del
NC_000017.11:g.(?_58720736)_(58720822_?)dup
NC_000017.11:g.(?_58720736)_(58734222_?)del
NC_000017.11:g.(?_58720736)_(58734232_?)del
NC_000017.11:g.(?_58720736)_(58734232_?)dup
NC_000017.11:g.(?_58720736)_(58734352_?)del
NC_000017.11:g.(?_58720740)_(58720818_?)del
NC_000017.11:g.(?_58720740)_(58724106_?)del
NC_000017.11:g.(?_58720746)_(58734342_?)del
NC_000017.11:g.(?_58732474)_(58734222_?)del
NC_000017.11:g.(?_58732474)_(58734232_?)del
NC_000017.11:g.(?_58734108)_(58734232_?)del
NC_000017.11:g.(?_58734112)_(58734228_?)del
NC_000017.11:g.(?_61683286)_(61693522_?)del
NC_000017.11:g.(?_61683286)_(61716073_?)del
NC_000017.11:g.(?_61683286)_(61808767_?)dup
NC_000017.11:g.(?_61683290)_(61684146_?)del
NC_000017.11:g.(?_61683296)_(61684150_?)dup
NC_000017.11:g.(?_61683296)_(61693522_?)dup
NC_000017.11:g.(?_61683296)_(61716073_?)del
NC_000017.11:g.(?_61685826)_(61686175_?)del
NC_000017.11:g.(?_61715941)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61716073_?)dup
NC_000017.11:g.(?_61715941)_(61808767_?)del
NC_000017.11:g.(?_61743003)_(61781015_?)dup
NC_000017.11:g.(?_61743007)_(61808763_?)del
NC_000017.11:g.(?_61744422)_(61744601_?)del
NC_000017.11:g.(?_61776391)_(61784434_?)del
NC_000017.11:g.(?_61776391)_(61808767_?)del
NC_000017.11:g.(?_61776395)_(61801480_?)del
NC_000017.11:g.(?_61776395)_(61861545_?)del
NC_000017.11:g.(?_61780251)_(61784434_?)del
NC_000017.11:g.(?_61780255)_(61781011_?)del
NC_000017.11:g.(?_61780255)_(61784430_?)del
NC_000017.11:g.(?_61793587)_(61799309_?)del
NC_000017.11:g.(?_61799090)_(61801484_?)del
NC_000017.11:g.(?_61799090)_(61861539_?)dup
NC_000017.11:g.(?_61808457)_(61808767_?)del
NC_000017.11:g.(?_61847091)_(61847230_?)del
NC_000017.11:g.(?_61847091)_(61849266_?)del
NC_000017.11:g.(?_61847091)_(61861549_?)del
NC_000017.11:g.(?_61847091)_(61861549_?)dup
NC_000017.11:g.(?_61847101)_(61849256_?)del
NC_000017.11:g.(?_61857048)_(61857241_?)del
NC_000017.11:g.(?_61857048)_(61861539_?)del
NC_000017.11:g.(?_61857048)_(61861549_?)del
NC_000017.11:g.(?_61857052)_(61861545_?)del
NC_000017.11:g.(?_61859786)_(61861549_?)del
NC_000017.11:g.(?_61861437)_(61861549_?)dup
NC_000017.11:g.(?_61861441)_(61861545_?)del
NC_000017.11:g.(?_7669603)_(8382316_?)del
NC_000017.11:g.(?_8228170)_(8382320_?)dup
NC_000019.9:g.(?_39904727)_(42931301_?)dup
NC_000019.9:g.(?_42363988)_(42364359_?)del
NC_000019.9:g.(?_42363988)_(42364925_?)del
NC_000019.9:g.(?_42363988)_(42375445_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NC_000020.10:g.(?_18449649)_(18541384_?)dup
NC_000020.10:g.(?_18516277)_(18516406_?)del
NC_000020.11:g.(?_18512225)_(18515736_?)del
NC_000020.11:g.18507416A>G
NC_000020.11:g.18512225_18512228del
NC_000021.9:g.(?_46136967)_(46155543_?)dup
NC_000022.10:g.(?_31003319)_(31022508_?)del
NC_000022.10:g.(?_31008840)_(31013502_?)del
NC_000022.11:g.(?_30612853)_(30615807_?)del
NC_000023.10:g.(?_14861689)_(14877476_?)dup
NC_000023.10:g.(?_14861689)_(14891184_?)del
NC_000023.10:g.(?_14861689)_(15870650_?)dup
NC_000023.10:g.(?_14875974)_(14891184_?)del
NC_000023.10:g.(?_152014869)_(154563736_?)del
NC_000023.10:g.(?_153195397)_(153583460_?)dup
NC_000023.10:g.(?_153640181)_(153775961_?)dup
NC_000023.10:g.(?_153760215)_(153764413_?)dup
NC_000023.10:g.(?_153760215)_(153775961_?)dup
NC_000023.10:g.(?_153762230)_(153775961_?)dup
NC_000023.10:g.(?_48542243)_(48652571_?)del
NC_000023.10:g.(?_48543926)_(48652581_?)dup
NC_000023.10:g.(?_48649517)_(48652571_?)dup
NC_000023.11:g.(?_14843557)_(14873062_?)dup
NC_000023.11:g.(?_14857852)_(14859344_?)del
NC_000023.11:g.154532803dup
NC_000023.11:g.154534338dup rs2148330517
NC_012920.1:m.8969G>A rs794726857
NG_000007.3(HBB):g.71609_72227del rs1847516043
NG_007406.1:g.(5249_8228)_(17155_19960)del
NG_009890.2:g.(5565_6559)_(8796_9460)del
NG_011474.1:g.11070_11071insSVAelement
NG_011706.1:g.10587_63081del
NG_011706.1:g.13291_71928del
NG_016202.2:g.(105169_105646)_(109769_110365)del
NG_033850.2(RPL15):g.7123_9515del
NM_000032.5(ALAS2):c.-15-1829T>C
NM_000032.5(ALAS2):c.-15-2188A>G
NM_000032.5(ALAS2):c.-16+6A>G rs1935989193
NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp) rs1935687757
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) rs137852300
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) rs137852307
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) rs137852305
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) rs760790600
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His) rs1935671225
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe)
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=) rs1602244633
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg) rs2146715075
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) rs137852308
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) rs137852308
NM_000032.5(ALAS2):c.488G>A (p.Arg163His) rs2146722839
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) rs1557248142
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) rs28935484
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) rs137852310
NM_000032.5(ALAS2):c.741C>T (p.His247=) rs1057515971
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
NM_000037.4(ANK1):c.*1062T>G rs886062934
NM_000037.4(ANK1):c.*1242G>T rs886062932
NM_000037.4(ANK1):c.*1250A>G rs1805075039
NM_000037.4(ANK1):c.*1424C>T rs1312631766
NM_000037.4(ANK1):c.*1474C>T rs1805004224
NM_000037.4(ANK1):c.*1590G>A rs572470025
NM_000037.4(ANK1):c.*1808A>G rs1462339318
NM_000037.4(ANK1):c.*1858A>C rs372070501
NM_000037.4(ANK1):c.*1880C>A rs1238270293
NM_000037.4(ANK1):c.*1892G>A rs116365681
NM_000037.4(ANK1):c.*1892G>T rs116365681
NM_000037.4(ANK1):c.*2409C>T rs951243751
NM_000037.4(ANK1):c.*36+989dup rs59908561
NM_000037.4(ANK1):c.*378T>G rs1805325198
NM_000037.4(ANK1):c.*385del rs112209933
NM_000037.4(ANK1):c.*437A>C rs1475025499
NM_000037.4(ANK1):c.*651A>C rs886062936
NM_000037.4(ANK1):c.*822G>A rs1805185515
NM_000037.4(ANK1):c.-63A>G rs1849016140
NM_000037.4(ANK1):c.1028A>C (p.His343Pro)
NM_000037.4(ANK1):c.1050C>T (p.His350=) rs1828761369
NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter) rs2150641057
NM_000037.4(ANK1):c.1124del (p.Leu375fs)
NM_000037.4(ANK1):c.1131C>A (p.Ile377=) rs373336198
NM_000037.4(ANK1):c.1135del (p.Cys379fs) rs2150641017
NM_000037.4(ANK1):c.1150G>A (p.Val384Ile)
NM_000037.4(ANK1):c.1179G>A (p.Thr393=) rs886062941
NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu)
NM_000037.4(ANK1):c.1207-6T>C
NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) rs776721065
NM_000037.4(ANK1):c.1282dup (p.Ala428fs)
NM_000037.4(ANK1):c.1303G>A (p.Val435Met)
NM_000037.4(ANK1):c.1305+1G>A
NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys)
NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter)
NM_000037.4(ANK1):c.1376del (p.Asn459fs)
NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs)
NM_000037.4(ANK1):c.1404+15C>A rs201598401
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs) rs2150635518
NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys)
NM_000037.4(ANK1):c.1438A>G (p.Ile480Val)
NM_000037.4(ANK1):c.1438del (p.Ile480fs)
NM_000037.4(ANK1):c.1452del (p.Asn484fs) rs2150635459
NM_000037.4(ANK1):c.1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.1519del (p.Leu507fs)
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)
NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys)
NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter)
NM_000037.4(ANK1):c.1602+1G>C
NM_000037.4(ANK1):c.1638C>A (p.Tyr546Ter)
NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)
NM_000037.4(ANK1):c.1659G>A (p.Glu553=)
NM_000037.4(ANK1):c.1675del (p.Asp559fs)
NM_000037.4(ANK1):c.1693G>T (p.Ala565Ser) rs1827218179
NM_000037.4(ANK1):c.1702-2A>C rs1554567249
NM_000037.4(ANK1):c.1702-2A>G rs1554567249
NM_000037.4(ANK1):c.1702-3_1710del rs1826992833
NM_000037.4(ANK1):c.1709del (p.Leu570fs)
NM_000037.4(ANK1):c.1717del (p.Leu573fs) rs1826989524
NM_000037.4(ANK1):c.1717dup (p.Leu573fs)
NM_000037.4(ANK1):c.1729G>A (p.Val577Ile)
NM_000037.4(ANK1):c.1771C>G (p.Arg591Gly) rs754903343
NM_000037.4(ANK1):c.1779_1800+1dup
NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs) rs2150631832
NM_000037.4(ANK1):c.1784dup (p.His596fs)
NM_000037.4(ANK1):c.1786C>A (p.His596Asn)
NM_000037.4(ANK1):c.1800+1del
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.1801-3C>G
NM_000037.4(ANK1):c.181del (p.Val61fs)
NM_000037.4(ANK1):c.1828G>T (p.Ala610Ser)
NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr)
NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter) rs1825406258
NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter) rs749423708
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)
NM_000037.4(ANK1):c.1910C>T (p.Thr637Met)
NM_000037.4(ANK1):c.1915del (p.Leu639fs)
NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)
NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)
NM_000037.4(ANK1):c.1948A>G (p.Met650Val) rs1057518790
NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter)
NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp)
NM_000037.4(ANK1):c.1998+5G>A rs946534987
NM_000037.4(ANK1):c.1A>G (p.Met1Val) rs1554627073
NM_000037.4(ANK1):c.2004del (p.Leu669fs) rs2150616506
NM_000037.4(ANK1):c.2023dup (p.Val675fs)
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) rs1563502820
NM_000037.4(ANK1):c.2098-1G>T rs2150612992
NM_000037.4(ANK1):c.2098-5T>C rs2150613009
NM_000037.4(ANK1):c.2102del (p.Gly701fs) rs2150612978
NM_000037.4(ANK1):c.2104dup (p.Tyr702fs) rs2150612966
NM_000037.4(ANK1):c.2148_2157del (p.Val717fs)
NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) rs747701761
NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu)
NM_000037.4(ANK1):c.2258T>C (p.Leu753Pro) rs1823867456
NM_000037.4(ANK1):c.2283del (p.Asn761fs)
NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu)
NM_000037.4(ANK1):c.2296-1G>A
NM_000037.4(ANK1):c.2296-2A>C
NM_000037.4(ANK1):c.2296-2A>G
NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs)
NM_000037.4(ANK1):c.2369C>T (p.Thr790Met)
NM_000037.4(ANK1):c.2389-1G>A rs1822828039
NM_000037.4(ANK1):c.2389-2A>G
NM_000037.4(ANK1):c.2389-8C>A
NM_000037.4(ANK1):c.2390_2393del
NM_000037.4(ANK1):c.2393_2403del (p.Val798fs) rs2150605957
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.2395A>C (p.Ser799Arg)
NM_000037.4(ANK1):c.242C>A (p.Ala81Asp)
NM_000037.4(ANK1):c.2447T>A (p.Val816Asp)
NM_000037.4(ANK1):c.2461+20C>T
NM_000037.4(ANK1):c.247C>T (p.His83Tyr)
NM_000037.4(ANK1):c.2485del (p.Ala829fs)
NM_000037.4(ANK1):c.2508T>A (p.Asp836Glu) rs776018872
NM_000037.4(ANK1):c.2510T>C (p.Val837Ala)
NM_000037.4(ANK1):c.2539G>T (p.Val847Leu)
NM_000037.4(ANK1):c.253G>A (p.Ala85Thr)
NM_000037.4(ANK1):c.253G>T (p.Ala85Ser)
NM_000037.4(ANK1):c.2558+2T>C rs2150602525
NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro)
NM_000037.4(ANK1):c.2581dup (p.Arg861fs)
NM_000037.4(ANK1):c.2632G>T (p.Glu878Ter)
NM_000037.4(ANK1):c.2637G>A (p.Gln879=)
NM_000037.4(ANK1):c.265G>A (p.Gly89Arg)
NM_000037.4(ANK1):c.2681del (p.Pro894fs)
NM_000037.4(ANK1):c.2764del (p.Arg922fs)
NM_000037.4(ANK1):c.2768del (p.Gly923fs) rs2150597126
NM_000037.4(ANK1):c.28-6_29dup
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.2823del (p.Thr942fs)
NM_000037.4(ANK1):c.283C>T (p.Arg95Trp)
NM_000037.4(ANK1):c.2855G>A (p.Arg952His)
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr)
NM_000037.4(ANK1):c.2960+1G>A rs2150596703
NM_000037.4(ANK1):c.2961-2A>G rs2150594692
NM_000037.4(ANK1):c.2971G>A (p.Val991Met)
NM_000037.4(ANK1):c.2972T>G (p.Val991Gly) rs1820556702
NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu) rs753931863
NM_000037.4(ANK1):c.3019G>A (p.Val1007Met)
NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly)
NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)
NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser)
NM_000037.4(ANK1):c.3059_3066del (p.His1020fs) rs2150594434
NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter)
NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs) rs1820512673
NM_000037.4(ANK1):c.310G>A (p.Val104Ile)
NM_000037.4(ANK1):c.3115+18C>T
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.3123del (p.Ser1042fs)
NM_000037.4(ANK1):c.3123dup (p.Ser1042fs)
NM_000037.4(ANK1):c.3150_3151insAAGG (p.Val1051fs)
NM_000037.4(ANK1):c.3151del (p.Val1051fs)
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter) rs2150593517
NM_000037.4(ANK1):c.3178C>A (p.Pro1060Thr)
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) rs267601925
NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs)
NM_000037.4(ANK1):c.319C>T (p.Gln107Ter)
NM_000037.4(ANK1):c.3202C>T (p.Arg1068Trp) rs1820329178
NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn)
NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys)
NM_000037.4(ANK1):c.325C>T (p.Gln109Ter)
NM_000037.4(ANK1):c.3269del (p.Leu1090fs) rs2150593284
NM_000037.4(ANK1):c.3275del (p.Gln1092fs) rs2150593275
NM_000037.4(ANK1):c.327G>A (p.Gln109=)
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) rs2150593157
NM_000037.4(ANK1):c.3327+19G>T rs200871595
NM_000037.4(ANK1):c.3342G>A (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.3342G>T (p.Pro1114=) rs374102892
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile) rs2150592257
NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg)
NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp)
NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)
NM_000037.4(ANK1):c.344T>A (p.Leu115Gln)
NM_000037.4(ANK1):c.344T>C (p.Leu115Pro) rs1586505238
NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs)
NM_000037.4(ANK1):c.3504_3514del (p.Ser1169fs)
NM_000037.4(ANK1):c.3533-2A>G
NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)
NM_000037.4(ANK1):c.3553T>G (p.Trp1185Gly)
NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) rs1586145051
NM_000037.4(ANK1):c.3563_3564del (p.Ile1188fs)
NM_000037.4(ANK1):c.356C>G (p.Ala119Gly) rs2150661855
NM_000037.4(ANK1):c.3598T>C (p.Cys1200Arg)
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs) rs1586144223
NM_000037.4(ANK1):c.3629+1G>C
NM_000037.4(ANK1):c.3629+2T>C rs2150590331
NM_000037.4(ANK1):c.3630-1G>A
NM_000037.4(ANK1):c.3639_3649dup (p.Pro1217fs)
NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu)
NM_000037.4(ANK1):c.3717G>A (p.Met1239Ile) rs1819636555
NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile)
NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)
NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys)
NM_000037.4(ANK1):c.3775del (p.Tyr1259fs) rs2150589601
NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)
NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys)
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)
NM_000037.4(ANK1):c.382_386del (p.Lys128fs) rs2150661824
NM_000037.4(ANK1):c.3841del (p.Arg1281fs)
NM_000037.4(ANK1):c.3850del (p.Asp1284fs) rs2150589472
NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly)
NM_000037.4(ANK1):c.3858+4A>G
NM_000037.4(ANK1):c.3859-2A>G
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter) rs2150586181
NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu)
NM_000037.4(ANK1):c.3954del (p.Arg1319fs)
NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val) rs1228458158
NM_000037.4(ANK1):c.3974_3981dup (p.Lys1328delinsCysLeuTer)
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.3985-10T>C rs886062940
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys)
NM_000037.4(ANK1):c.4040_4041del (p.Met1347fs)
NM_000037.4(ANK1):c.4051del (p.Asp1351fs) rs1586114714
NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter) rs2150585752
NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr) rs764226906
NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs)
NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter) rs538989808
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn)
NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr)
NM_000037.4(ANK1):c.4140del (p.Leu1382fs)
NM_000037.4(ANK1):c.4157dup (p.Tyr1386Ter)
NM_000037.4(ANK1):c.4184-2A>G
NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter)
NM_000037.4(ANK1):c.4259-1G>T
NM_000037.4(ANK1):c.4267del (p.Arg1423fs)
NM_000037.4(ANK1):c.427-2A>G
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) rs1586072383
NM_000037.4(ANK1):c.4370G>A (p.Arg1457His)
NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs)
NM_000037.4(ANK1):c.4390+1G>A rs2150580336
NM_000037.4(ANK1):c.4391-18T>C
NM_000037.4(ANK1):c.4391-1G>C
NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter) rs1228535558
NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer)
NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu)
NM_000037.4(ANK1):c.4444A>G (p.Met1482Val) rs2150578454
NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter) rs1187228917
NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp)
NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)
NM_000037.4(ANK1):c.4497C>T (p.His1499=) rs370037242
NM_000037.4(ANK1):c.4501G>C (p.Asp1501His)
NM_000037.4(ANK1):c.4524C>T (p.Pro1508=) rs886062938
NM_000037.4(ANK1):c.4529del (p.Gln1510fs)
NM_000037.4(ANK1):c.4538-52G>C rs499295
NM_000037.4(ANK1):c.4538G>A (p.Gly1513Asp)
NM_000037.4(ANK1):c.4541del (p.Tyr1514fs) rs2150563560
NM_000037.4(ANK1):c.455T>C (p.Leu152Pro)
NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs)
NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)
NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)
NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs)
NM_000037.4(ANK1):c.4783G>A (p.Ala1595Thr)
NM_000037.4(ANK1):c.47_50del (p.Ser15_Phe16insTer)
NM_000037.4(ANK1):c.4813del (p.Ala1605fs) rs2150563125
NM_000037.4(ANK1):c.4819_4820del (p.Ser1607fs)
NM_000037.4(ANK1):c.4835_4847del (p.Gly1612fs)
NM_000037.4(ANK1):c.4835del (p.Gly1612fs) rs2150563078
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter) rs774067157
NM_000037.4(ANK1):c.4886del (p.Asp1629fs)
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) rs137852829
NM_000037.4(ANK1):c.500dup (p.Thr168fs)
NM_000037.4(ANK1):c.5026del (p.His1676fs)
NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met)
NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)
NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter)
NM_000037.4(ANK1):c.5076dup (p.Thr1693fs)
NM_000037.4(ANK1):c.5096+1G>A
NM_000037.4(ANK1):c.5096+2T>G
NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)
NM_000037.4(ANK1):c.5097-33G>A
NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter) rs2150556792
NM_000037.4(ANK1):c.511_541del (p.Lys171fs)
NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr)
NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter) rs1554522035
NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) rs137852830
NM_000037.4(ANK1):c.5164del (p.Gln1722fs)
NM_000037.4(ANK1):c.5189A>T (p.His1730Leu)
NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter)
NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser)
NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)
NM_000037.4(ANK1):c.5298del (p.Glu1767fs)
NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs)
NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys)
NM_000037.4(ANK1):c.534del (p.His178fs) rs1554578304
NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)
NM_000037.4(ANK1):c.5374_5375del (p.Thr1792fs)
NM_000037.4(ANK1):c.5395-1286C>T
NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs) rs2150548107
NM_000037.4(ANK1):c.547_559del (p.Asn183fs)
NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)
NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter)
NM_000037.4(ANK1):c.557del (p.Thr186fs)
NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg)
NM_000037.4(ANK1):c.5628A>G (p.Lys1876=) rs184665931
NM_000037.4(ANK1):c.612+1G>C
NM_000037.4(ANK1):c.613-1G>A
NM_000037.4(ANK1):c.634A>G (p.Ile212Val)
NM_000037.4(ANK1):c.659A>G (p.Asn220Ser)
NM_000037.4(ANK1):c.694G>A (p.Val232Ile)
NM_000037.4(ANK1):c.6dup (p.Tyr3fs)
NM_000037.4(ANK1):c.711+3A>C
NM_000037.4(ANK1):c.712-2A>T rs2150653010
NM_000037.4(ANK1):c.725del (p.Pro242fs) rs2150652933
NM_000037.4(ANK1):c.749G>T (p.Gly250Val)
NM_000037.4(ANK1):c.758T>G (p.Ile253Ser) rs770333748
NM_000037.4(ANK1):c.761T>C (p.Met254Thr)
NM_000037.4(ANK1):c.782G>A (p.Arg261Gln)
NM_000037.4(ANK1):c.806C>T (p.Thr269Ile)
NM_000037.4(ANK1):c.810+1G>A
NM_000037.4(ANK1):c.813C>T (p.Asp271=)
NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)
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.86del (p.Leu29fs)
NM_000037.4(ANK1):c.875T>C (p.Leu292Pro) rs1829705168
NM_000037.4(ANK1):c.886del (p.Ala296fs)
NM_000037.4(ANK1):c.910-2A>G
NM_000037.4(ANK1):c.931A>G (p.Met311Val) rs2150644664
NM_000037.4(ANK1):c.935C>A (p.Ala312Glu) rs1036457270
NM_000037.4(ANK1):c.935C>T (p.Ala312Val)
NM_000037.4(ANK1):c.958T>C (p.Cys320Arg)
NM_000037.4(ANK1):c.964C>A (p.Arg322=) rs770743762
NM_000037.4(ANK1):c.964C>T (p.Arg322Trp)
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) rs183864227
NM_000037.4(ANK1):c.970del (p.Leu324fs)
NM_000037.4(ANK1):c.985G>T (p.Ala329Ser) rs746138074
NM_000059.3(BRCA2):c.-210A>G rs886050111
NM_000059.3(BRCA2):c.-220G>T rs1036870835
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.*248T>C rs542356535
NM_000059.4(BRCA2):c.*292A>C rs886050112
NM_000059.4(BRCA2):c.*360dup rs886050114
NM_000059.4(BRCA2):c.*399T>C rs886050115
NM_000059.4(BRCA2):c.*416G>T rs886050116
NM_000059.4(BRCA2):c.*675C>A rs886050117
NM_000059.4(BRCA2):c.*696G>A rs886050118
NM_000059.4(BRCA2):c.*839del rs75353978
NM_000059.4(BRCA2):c.-40+2T>C rs1593879845
NM_000059.4(BRCA2):c.-59_-57del rs545321666
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg) rs587782016
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn) rs431825280
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile) rs1593892275
NM_000059.4(BRCA2):c.1238del (p.Leu413fs) rs80359271
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly) rs768169574
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys) rs398122725
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser) rs1249900164
NM_000059.4(BRCA2):c.15del (p.Glu7fs) rs1064795072
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu) rs2072286770
NM_000059.4(BRCA2):c.1889del (p.Thr630fs) rs80359315
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu) rs1555282154
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu) rs397507282
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly) rs397507283
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val) rs1555282574
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg) rs80358512
NM_000059.4(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys) rs864622476
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu) rs80358523
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser) rs80358526
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val) rs1566227648
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) rs786201916
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile) rs431825304
NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln) rs747903103
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile) rs876660471
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp) rs762886975
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile) rs876658938
NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile) rs1469541725
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr) rs80358625
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4125_4138del (p.Glu1375fs)
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr) rs1403318277
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile) rs1555283763
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs) rs863224827
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg) rs397507336
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter) rs2137509604
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs) rs1593903422
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.4(BRCA2):c.486del (p.Ser163fs) rs587780653
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr) rs863224590
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del) rs397507349
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu) rs770664957
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn) rs80358781
NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=) rs1401654517
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.561G>A (p.Glu187=) rs754678843
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile) rs80358818
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro) rs55877890
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His) rs80358849
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.632-3C>T rs568027879
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu) rs55953736
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr) rs1060502462
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.658dup (p.Val220fs)
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr) rs398122563
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr) rs80358907
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7034A>G (p.Gln2345Arg) rs876661187
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile) rs1555286026
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del) rs876659222
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser) rs80358969
NM_000059.4(BRCA2):c.7464_7465insTA (p.Asp2489Ter) rs886038169
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer) rs1555286294
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs) rs80359688
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter) rs80359070
NM_000059.4(BRCA2):c.8332-1G>A rs397507979
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.844C>G (p.His282Asp) rs768605944
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe) rs80359094
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg) rs1401510742
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8732C>A (p.Ala2911Glu) rs80359130
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg) rs587781800
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2]) rs786202063
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr) rs587781493
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs) rs886038189
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe) rs80359195
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp) rs1555289516
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.942A>G (p.Lys314=) rs1384322636
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.956dup (p.Asn319fs) rs80359770
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.4(BRCA2):c.9693del (p.Leu3232fs) rs1566260827
NM_000059.4(BRCA2):c.9760A>G (p.Lys3254Glu) rs2073050616
NM_000064.4(C3):c.1921G>A (p.Asp641Asn) rs1348311492
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) rs386134138
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.1012T>A (p.Cys338Ser) rs769313989
NM_000096.4(CP):c.1019A>G (p.Asn340Ser)
NM_000096.4(CP):c.1029T>C (p.His343=)
NM_000096.4(CP):c.1036+15C>T
NM_000096.4(CP):c.1037-16_1037-13del rs760010903
NM_000096.4(CP):c.1037-5T>C
NM_000096.4(CP):c.1056C>T (p.Phe352=)
NM_000096.4(CP):c.1079C>A (p.Ser360Tyr)
NM_000096.4(CP):c.1081T>C (p.Ser361Pro)
NM_000096.4(CP):c.1100G>T (p.Arg367Leu) rs199930098
NM_000096.4(CP):c.1106del (p.Lys369fs)
NM_000096.4(CP):c.1123T>C (p.Tyr375His) rs386134128
NM_000096.4(CP):c.1125C>T (p.Tyr375=)
NM_000096.4(CP):c.1149G>A (p.Trp383Ter) rs772867888
NM_000096.4(CP):c.1169T>C (p.Ile390Thr)
NM_000096.4(CP):c.1175T>A (p.Ile392Asn) rs1481132976
NM_000096.4(CP):c.117T>A (p.His39Gln)
NM_000096.4(CP):c.1199C>A (p.Ala400Glu) rs1446212124
NM_000096.4(CP):c.119G>C (p.Gly40Ala) rs748730192
NM_000096.4(CP):c.1201C>T (p.Pro401Ser)
NM_000096.4(CP):c.1208+18A>G
NM_000096.4(CP):c.1208+1G>A rs1553762556
NM_000096.4(CP):c.1208+6T>A rs2108287218
NM_000096.4(CP):c.1208+6T>C rs2108287218
NM_000096.4(CP):c.1209-11del rs748250466
NM_000096.4(CP):c.1209-11dup rs748250466
NM_000096.4(CP):c.1218G>A (p.Ala406=)
NM_000096.4(CP):c.1254C>T (p.Gly418=)
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) rs386134144
NM_000096.4(CP):c.1269G>A (p.Leu423=) rs2108278024
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.1306C>T (p.Arg436Ter)
NM_000096.4(CP):c.1312G>C (p.Glu438Gln) rs2108277804
NM_000096.4(CP):c.1313A>G (p.Glu438Gly) rs1553761979
NM_000096.4(CP):c.1317_1318del (p.Gly440fs) rs1727369694
NM_000096.4(CP):c.1320C>T (p.Gly440=)
NM_000096.4(CP):c.1324G>A (p.Glu442Lys)
NM_000096.4(CP):c.1333C>T (p.His445Tyr)
NM_000096.4(CP):c.1337T>C (p.Leu446Pro) rs1727368255
NM_000096.4(CP):c.1401C>G (p.Asn467Lys)
NM_000096.4(CP):c.1409C>T (p.Ala470Val) rs1460879036
NM_000096.4(CP):c.141T>C (p.Val47=)
NM_000096.4(CP):c.1431G>A (p.Pro477=) rs763429281
NM_000096.4(CP):c.1448A>G (p.Asn483Ser) rs781513940
NM_000096.4(CP):c.146+1G>A rs386134134
NM_000096.4(CP):c.1467A>G (p.Thr489=)
NM_000096.4(CP):c.147-11T>G
NM_000096.4(CP):c.147-9T>A
NM_000096.4(CP):c.1501+18T>A rs2108271964
NM_000096.4(CP):c.1505_1506dup (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.1526T>C (p.Val509Ala)
NM_000096.4(CP):c.1551T>C (p.Tyr517=)
NM_000096.4(CP):c.1613del (p.Met538fs) rs1576759850
NM_000096.4(CP):c.1648T>A (p.Phe550Ile)
NM_000096.4(CP):c.1679G>T (p.Cys560Phe) rs1064797073
NM_000096.4(CP):c.1680C>T (p.Cys560=) rs1553761342
NM_000096.4(CP):c.1698T>C (p.His566=)
NM_000096.4(CP):c.1714-13_1714-9del rs2108244342
NM_000096.4(CP):c.1726A>G (p.Lys576Glu) rs938967361
NM_000096.4(CP):c.1731del (p.Glu577fs) rs2108244261
NM_000096.4(CP):c.1748C>T (p.Thr583Ile)
NM_000096.4(CP):c.1758T>C (p.Asp586=)
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.181G>T (p.Asp61Tyr)
NM_000096.4(CP):c.1826A>C (p.Lys609Thr) rs2108243871
NM_000096.4(CP):c.1837G>A (p.Asp613Asn) rs750202621
NM_000096.4(CP):c.1843C>T (p.Gln615Ter)
NM_000096.4(CP):c.1864+12A>G
NM_000096.4(CP):c.1864+1G>C rs1559942361
NM_000096.4(CP):c.1865-12C>G
NM_000096.4(CP):c.1865-1G>A rs386134139
NM_000096.4(CP):c.1865-291_2077+352del rs1553759338
NM_000096.4(CP):c.1874G>A (p.Gly625Glu) rs386134129
NM_000096.4(CP):c.1908G>A (p.Met636Ile) rs2108240139
NM_000096.4(CP):c.1915G>A (p.Gly639Arg)
NM_000096.4(CP):c.1918del (p.Asp640fs) rs386134146
NM_000096.4(CP):c.1937T>C (p.Leu646Ser)
NM_000096.4(CP):c.1939T>C (p.Phe647Leu) rs755977561
NM_000096.4(CP):c.1958_1963del (p.Ala653_Asp654del)
NM_000096.4(CP):c.1959C>T (p.Ala653=)
NM_000096.4(CP):c.1960G>T (p.Asp654Tyr) rs755243937
NM_000096.4(CP):c.1973T>C (p.Ile658Thr) rs1726190460
NM_000096.4(CP):c.1991C>T (p.Thr664Ile)
NM_000096.4(CP):c.1991_1992del (p.Thr664fs)
NM_000096.4(CP):c.1995T>C (p.Tyr665=) rs1351532741
NM_000096.4(CP):c.19G>C (p.Gly7Arg)
NM_000096.4(CP):c.1del (p.Met1*) rs750317184
NM_000096.4(CP):c.2011C>T (p.Arg671Trp)
NM_000096.4(CP):c.2012G>A (p.Arg671Gln)
NM_000096.4(CP):c.2027A>G (p.Asn676Ser) rs2108239351
NM_000096.4(CP):c.2046T>G (p.Ser682Arg) rs751013436
NM_000096.4(CP):c.2051C>T (p.Thr684Met)
NM_000096.4(CP):c.2052G>A (p.Thr684=)
NM_000096.4(CP):c.2056C>T (p.His686Tyr)
NM_000096.4(CP):c.2059A>G (p.Met687Val) rs1726183089
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2068del (p.Asp690fs) rs386134148
NM_000096.4(CP):c.2078-74_2241del rs1553759167
NM_000096.4(CP):c.2078-75_2241del
NM_000096.4(CP):c.209C>T (p.Ala70Val) rs2108302390
NM_000096.4(CP):c.210C>T (p.Ala70=)
NM_000096.4(CP):c.2131C>A (p.Gln711Lys) rs386134130
NM_000096.4(CP):c.2133A>G (p.Gln711=)
NM_000096.4(CP):c.2149C>T (p.Gln717Ter)
NM_000096.4(CP):c.2185del (p.Leu729fs) rs587777922
NM_000096.4(CP):c.2189G>T (p.Gly730Val) rs1726090334
NM_000096.4(CP):c.2202C>T (p.Tyr734=) rs2108235775
NM_000096.4(CP):c.2215G>C (p.Val739Leu)
NM_000096.4(CP):c.2227T>G (p.Trp743Gly)
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2263C>T (p.Leu755=) rs763571936
NM_000096.4(CP):c.2268T>C (p.His756=) rs765341479
NM_000096.4(CP):c.2285+9C>G
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>A rs34861155
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2286-15_2286-14del rs201677287
NM_000096.4(CP):c.2286-18G>C
NM_000096.4(CP):c.2286-4del rs561633350
NM_000096.4(CP):c.2316G>A (p.Glu772=)
NM_000096.4(CP):c.2322C>A (p.Tyr774Ter) rs2108230432
NM_000096.4(CP):c.2331A>C (p.Ser777=) rs746132110
NM_000096.4(CP):c.233A>G (p.Glu78Gly) rs1451235847
NM_000096.4(CP):c.2342A>C (p.Lys781Thr)
NM_000096.4(CP):c.2347G>A (p.Val783Met)
NM_000096.4(CP):c.2354G>A (p.Arg785Gln) rs1257682995
NM_000096.4(CP):c.2367T>C (p.Asp789=) rs1725922755
NM_000096.4(CP):c.2377C>T (p.Arg793Cys)
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2395A>C (p.Lys799Gln)
NM_000096.4(CP):c.2401GAA[2] (p.Glu803del) rs1482869210
NM_000096.4(CP):c.2407G>C (p.Glu803Gln)
NM_000096.4(CP):c.240T>C (p.Phe80=)
NM_000096.4(CP):c.2421T>A (p.Ile807=) rs998289672
NM_000096.4(CP):c.2482G>A (p.Ala828Thr) rs1161226577
NM_000096.4(CP):c.2482del (p.Ala828fs) rs386134150
NM_000096.4(CP):c.2496C>T (p.Tyr832=) rs1199272207
NM_000096.4(CP):c.250A>G (p.Ile84Val)
NM_000096.4(CP):c.2511dup (p.Gly838fs) rs386134151
NM_000096.4(CP):c.2514G>A (p.Gly838=) rs1238808502
NM_000096.4(CP):c.2520_2523del (p.Thr841fs)
NM_000096.4(CP):c.2554+10G>A
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2554+15G>A rs751719558
NM_000096.4(CP):c.2554+19dup
NM_000096.4(CP):c.2554+1G>T rs386134140
NM_000096.4(CP):c.2555-12T>C
NM_000096.4(CP):c.2555-4T>G
NM_000096.4(CP):c.2557G>A (p.Glu853Lys) rs886058086
NM_000096.4(CP):c.2575T>C (p.Trp859Arg) rs1725651811
NM_000096.4(CP):c.2594C>G (p.Ser865Cys) rs1410133815
NM_000096.4(CP):c.2603del (p.Gly868fs) rs386134152
NM_000096.4(CP):c.2617G>A (p.Ala873Thr) rs1472131747
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr) rs570400135
NM_000096.4(CP):c.2622T>C (p.Cys874=)
NM_000096.4(CP):c.2626C>T (p.Pro876Ser)
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.2636A>T (p.Tyr879Phe)
NM_000096.4(CP):c.2650G>C (p.Asp884His) rs2108219609
NM_000096.4(CP):c.2662-13T>C rs200646301
NM_000096.4(CP):c.2662-3C>T
NM_000096.4(CP):c.2675G>A (p.Gly892Glu) rs386134131
NM_000096.4(CP):c.2698T>C (p.Cys900Arg)
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2704A>C (p.Arg902=) rs2108216869
NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)
NM_000096.4(CP):c.2732G>T (p.Arg911Ile)
NM_000096.4(CP):c.2741T>A (p.Leu914Gln)
NM_000096.4(CP):c.2741T>G (p.Leu914Arg)
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000096.4(CP):c.2762T>C (p.Leu921Pro) rs1725565373
NM_000096.4(CP):c.277T>A (p.Leu93Ile)
NM_000096.4(CP):c.2782T>A (p.Ser928Thr) rs2108216572
NM_000096.4(CP):c.2811A>G (p.Thr937=)
NM_000096.4(CP):c.2831A>G (p.Lys944Arg)
NM_000096.4(CP):c.2835A>G (p.Val945=) rs2108216294
NM_000096.4(CP):c.2837A>G (p.Asn946Ser) rs1185823259
NM_000096.4(CP):c.2860G>A (p.Glu954Lys)
NM_000096.4(CP):c.2878+9C>T rs769666265
NM_000096.4(CP):c.2879-1G>A rs386134141
NM_000096.4(CP):c.2879-1G>T rs386134141
NM_000096.4(CP):c.2879-2A>G rs1406530488
NM_000096.4(CP):c.2886T>G (p.Asn962Lys)
NM_000096.4(CP):c.290_292del (p.Ile97del) rs2108302022
NM_000096.4(CP):c.2917dup (p.Thr973fs) rs386134154
NM_000096.4(CP):c.2925C>T (p.His975=)
NM_000096.4(CP):c.2934T>C (p.Asp978=)
NM_000096.4(CP):c.2947T>C (p.Tyr983His)
NM_000096.4(CP):c.2953A>G (p.Met985Val) rs386134132
NM_000096.4(CP):c.2962G>A (p.Gly988Ser) rs386134133
NM_000096.4(CP):c.2977T>C (p.Leu993=)
NM_000096.4(CP):c.2978T>C (p.Leu993Ser)
NM_000096.4(CP):c.2991T>G (p.His997Gln) rs34394958
NM_000096.4(CP):c.3003T>C (p.His1001=)
NM_000096.4(CP):c.3018+8C>G
NM_000096.4(CP):c.3018+8C>T
NM_000096.4(CP):c.3018+9_3018+12dup rs1342162840
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.3028G>A (p.Val1010Ile)
NM_000096.4(CP):c.306A>G (p.Gly102=)
NM_000096.4(CP):c.3076C>T (p.Leu1026=)
NM_000096.4(CP):c.3111A>G (p.Leu1037=)
NM_000096.4(CP):c.3118T>C (p.Cys1040Arg)
NM_000096.4(CP):c.3181+11A>C
NM_000096.4(CP):c.3182-7T>A
NM_000096.4(CP):c.3186C>A (p.Thr1062=)
NM_000096.4(CP):c.376_379del (p.Tyr126fs) rs2108301637
NM_000096.4(CP):c.389A>G (p.His130Arg) rs747953840
NM_000096.4(CP):c.390T>A (p.His130Gln)
NM_000096.4(CP):c.393G>A (p.Glu131=) rs754943824
NM_000096.4(CP):c.394+6T>C
NM_000096.4(CP):c.395-14A>T
NM_000096.4(CP):c.395-20C>T
NM_000096.4(CP):c.407C>T (p.Pro136Leu) rs878959339
NM_000096.4(CP):c.40A>G (p.Ser14Gly)
NM_000096.4(CP):c.411T>C (p.Asp137=) rs747012860
NM_000096.4(CP):c.438T>A (p.Asp146Glu)
NM_000096.4(CP):c.438T>C (p.Asp146=) rs778389238
NM_000096.4(CP):c.461A>C (p.Gln154Pro)
NM_000096.4(CP):c.465T>C (p.Tyr155=)
NM_000096.4(CP):c.468A>C (p.Thr156=) rs532168420
NM_000096.4(CP):c.493C>G (p.Gln165Glu) rs386134122
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
NM_000096.4(CP):c.552T>C (p.Asp184=)
NM_000096.4(CP):c.587C>G (p.Pro196Arg) rs386134124
NM_000096.4(CP):c.597C>G (p.Ile199Met) rs1728013449
NM_000096.4(CP):c.606dup (p.Asp203fs) rs386134143
NM_000096.4(CP):c.607+18T>A
NM_000096.4(CP):c.607+18T>C
NM_000096.4(CP):c.607+1G>A rs386134136
NM_000096.4(CP):c.607+1del rs753254095
NM_000096.4(CP):c.607+9_607+11del
NM_000096.4(CP):c.608-4_608-3insT
NM_000096.4(CP):c.608-6C>T
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000096.4(CP):c.678A>C (p.Glu226Asp)
NM_000096.4(CP):c.694C>T (p.Leu232=)
NM_000096.4(CP):c.701A>G (p.Asp234Gly) rs769311718
NM_000096.4(CP):c.732G>T (p.Glu244Asp) rs917446548
NM_000096.4(CP):c.738T>C (p.Val246=) rs1727947362
NM_000096.4(CP):c.746A>C (p.Asp249Ala)
NM_000096.4(CP):c.782-10T>C
NM_000096.4(CP):c.782-9G>T rs566719310
NM_000096.4(CP):c.809T>C (p.Leu270Pro) rs760359106
NM_000096.4(CP):c.80G>C (p.Gly27Ala)
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000096.4(CP):c.850T>C (p.Tyr284His) rs886058088
NM_000096.4(CP):c.886G>A (p.Ala296Thr) rs765169503
NM_000096.4(CP):c.88G>C (p.Glu30Gln) rs1728820847
NM_000096.4(CP):c.909A>G (p.Ala303=)
NM_000096.4(CP):c.921G>A (p.Lys307=) rs543777038
NM_000096.4(CP):c.952C>T (p.Pro318Ser)
NM_000096.4(CP):c.966T>C (p.Phe322=) rs1727813358
NM_000096.4(CP):c.984C>T (p.Ala328=) rs2108290269
NM_000096.4(CP):c.991C>A (p.Pro331Thr) rs376348284
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter) rs115998465
NM_000119.2(EPB42):c.922+1G>A rs266257355
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000135.2(FANCA):c.(?_-1)_522+?del
NM_000135.2(FANCA):c.(?_-42)_3066+281del
NM_000135.2(FANCA):c.(?_-42)_523-663del
NM_000135.2(FANCA):c.(?_-42)_523-818del
NM_000135.2(FANCA):c.(?_-42)_523-828del
NM_000135.2(FANCA):c.(?_-42)_597-800del
NM_000135.2(FANCA):c.1006+539_3066+898del
NM_000135.2(FANCA):c.1006+727_1626+1288del
NM_000135.2(FANCA):c.1007-10_2504+209del
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2(FANCA):c.1359+1138_1900+1140del
NM_000135.2(FANCA):c.1470+801_(*1050_?)del
NM_000135.2(FANCA):c.1471-191_1626+740del
NM_000135.2(FANCA):c.1471-275_1626+656del
NM_000135.2(FANCA):c.1626+1433_3349-564del
NM_000135.2(FANCA):c.1626+588_2778+888del
NM_000135.2(FANCA):c.1626+637_2778+1111del
NM_000135.2(FANCA):c.1716-215_2779-1067del
NM_000135.2(FANCA):c.1827-835_2779-1050del
NM_000135.2(FANCA):c.1901-1154_2779-889del
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2(FANCA):c.2151+328_2778+1066del
NM_000135.2(FANCA):c.2505-976_(*1050_?)del
NM_000135.2(FANCA):c.2779_2852del rs2038967116
NM_000135.2(FANCA):c.284del rs2040861554
NM_000135.2(FANCA):c.2852+553_(*1050_?)del
NM_000135.2(FANCA):c.2852+734_3067-376del
NM_000135.2(FANCA):c.2853-1360_2982-2296del
NM_000135.2(FANCA):c.2853-382_*1312del
NM_000135.2(FANCA):c.2981+611_*1153del
NM_000135.2(FANCA):c.2982-1580_3067-209del
NM_000135.2:c.1471-490_3627-655del
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.2:c.522+715_2852+656del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.-1_2del (p.Met1del) rs2143732272
NM_000135.4(FANCA):c.1000C>G (p.Leu334Val)
NM_000135.4(FANCA):c.1000C>T (p.Leu334=) rs1405549284
NM_000135.4(FANCA):c.1006+10G>C
NM_000135.4(FANCA):c.1006+10G>T rs762536802
NM_000135.4(FANCA):c.1006+11TG[3]
NM_000135.4(FANCA):c.1006+14G>C
NM_000135.4(FANCA):c.1006+19C>G
NM_000135.4(FANCA):c.1006+1G>A
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1006+2_1006+5del rs2040229450
NM_000135.4(FANCA):c.1006+6C>A
NM_000135.4(FANCA):c.1006+6C>T
NM_000135.4(FANCA):c.1007-10C>A rs2040111171
NM_000135.4(FANCA):c.1007-10C>T rs2040111171
NM_000135.4(FANCA):c.1007-13T>G
NM_000135.4(FANCA):c.1007-16G>C
NM_000135.4(FANCA):c.1007-16_1007-15del
NM_000135.4(FANCA):c.1007-18_1007-15del
NM_000135.4(FANCA):c.1007-1G>A
NM_000135.4(FANCA):c.1007-1del rs2040110823
NM_000135.4(FANCA):c.1007-20G>A
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1007-2dup rs2143534850
NM_000135.4(FANCA):c.1007-3C>A
NM_000135.4(FANCA):c.1007-5T>C
NM_000135.4(FANCA):c.1007-6C>G rs770125368
NM_000135.4(FANCA):c.1007-7C>T
NM_000135.4(FANCA):c.1007-9C>T
NM_000135.4(FANCA):c.1012G>C (p.Asp338His)
NM_000135.4(FANCA):c.1014T>C (p.Asp338=)
NM_000135.4(FANCA):c.1017T>C (p.Ala339=)
NM_000135.4(FANCA):c.1023G>A (p.Gln341=) rs2143534746
NM_000135.4(FANCA):c.1029G>A (p.Gln343=) rs779989777
NM_000135.4(FANCA):c.1029G>C (p.Gln343His)
NM_000135.4(FANCA):c.102dup (p.Tyr35fs)
NM_000135.4(FANCA):c.1033G>A (p.Glu345Lys) rs758168558
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1034_1040del (p.Glu345fs) rs2143534611
NM_000135.4(FANCA):c.1035G>A (p.Glu345=) rs1044759612
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.1041C>T (p.Ser347=)
NM_000135.4(FANCA):c.1046C>A (p.Ala349Glu) rs142620413
NM_000135.4(FANCA):c.1047G>T (p.Ala349=)
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.1050G>A (p.Arg350=)
NM_000135.4(FANCA):c.1057C>G (p.Pro353Ala) rs1449343629
NM_000135.4(FANCA):c.1059T>A (p.Pro353=) rs563820871
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln)
NM_000135.4(FANCA):c.1062G>C (p.Leu354=)
NM_000135.4(FANCA):c.1063C>A (p.Leu355Ile)
NM_000135.4(FANCA):c.1065C>A (p.Leu355=)
NM_000135.4(FANCA):c.1065C>G (p.Leu355=)
NM_000135.4(FANCA):c.1065C>T (p.Leu355=) rs373366147
NM_000135.4(FANCA):c.1066A>T (p.Thr356Ser)
NM_000135.4(FANCA):c.1068C>A (p.Thr356=) rs1161525939
NM_000135.4(FANCA):c.1068C>T (p.Thr356=) rs1161525939
NM_000135.4(FANCA):c.106_108del (p.Asn36del) rs1598202748
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter) rs773687142
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter) rs773687142
NM_000135.4(FANCA):c.1071A>G (p.Ser357=) rs1249860808
NM_000135.4(FANCA):c.1072C>T (p.Leu358=) rs748337423
NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg) rs1045404649
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1076A>G (p.Tyr359Cys)
NM_000135.4(FANCA):c.1079G>A (p.Arg360His)
NM_000135.4(FANCA):c.1080C>A (p.Arg360=)
NM_000135.4(FANCA):c.1080C>T (p.Arg360=)
NM_000135.4(FANCA):c.1082G>C (p.Arg361Thr)
NM_000135.4(FANCA):c.1083+14G>C rs2143534130
NM_000135.4(FANCA):c.1083+17T>C
NM_000135.4(FANCA):c.1083+18T>C
NM_000135.4(FANCA):c.1083+1G>A
NM_000135.4(FANCA):c.1083+20T>C
NM_000135.4(FANCA):c.1083+5G>A rs1412210234
NM_000135.4(FANCA):c.1083+8G>C
NM_000135.4(FANCA):c.1083+8del
NM_000135.4(FANCA):c.1083+9A>T rs1312747816
NM_000135.4(FANCA):c.1083G>A (p.Arg361=) rs2143534230
NM_000135.4(FANCA):c.1084-10T>C rs369884743
NM_000135.4(FANCA):c.1084-11T>G
NM_000135.4(FANCA):c.1084-13G>A rs2143531033
NM_000135.4(FANCA):c.1084-14T>C rs1267858023
NM_000135.4(FANCA):c.1084-16G>T
NM_000135.4(FANCA):c.1084-17G>A
NM_000135.4(FANCA):c.1084-19G>C
NM_000135.4(FANCA):c.1084-1G>A rs2040094761
NM_000135.4(FANCA):c.1084-1G>T
NM_000135.4(FANCA):c.1084-5T>G
NM_000135.4(FANCA):c.1084-7del rs780878272
NM_000135.4(FANCA):c.1084-8T>G
NM_000135.4(FANCA):c.1084-9T>C
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val) rs2040094709
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro) rs2040094645
NM_000135.4(FANCA):c.1086C>T (p.Leu362=) rs2143530829
NM_000135.4(FANCA):c.1089T>C (p.Phe363=) rs2143530797
NM_000135.4(FANCA):c.1093A>G (p.Met365Val) rs2143530760
NM_000135.4(FANCA):c.1094T>G (p.Met365Arg) rs2040094424
NM_000135.4(FANCA):c.1096C>G (p.Leu366Val)
NM_000135.4(FANCA):c.1096C>T (p.Leu366=)
NM_000135.4(FANCA):c.1097T>C (p.Leu366Pro) rs2143530711
NM_000135.4(FANCA):c.1098G>A (p.Leu366=)
NM_000135.4(FANCA):c.1098G>C (p.Leu366=)
NM_000135.4(FANCA):c.1098G>T (p.Leu366=) rs1598152908
NM_000135.4(FANCA):c.1101T>C (p.Ser367=)
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr) rs1598152904
NM_000135.4(FANCA):c.1112T>C (p.Leu371Ser)
NM_000135.4(FANCA):c.1115T>C (p.Val372Ala) rs2040093870
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1119C>G (p.Gly373=)
NM_000135.4(FANCA):c.1122T>C (p.His374=) rs2143530454
NM_000135.4(FANCA):c.1123T>A (p.Leu375Met) rs2040093515
NM_000135.4(FANCA):c.1123T>C (p.Leu375=) rs2040093515
NM_000135.4(FANCA):c.1124T>G (p.Leu375Trp) rs2040093463
NM_000135.4(FANCA):c.1126C>G (p.Gln376Glu) rs2040093330
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)
NM_000135.4(FANCA):c.1127A>G (p.Gln376Arg) rs2143530391
NM_000135.4(FANCA):c.1135C>T (p.Leu379=) rs969577700
NM_000135.4(FANCA):c.113A>C (p.Glu38Ala)
NM_000135.4(FANCA):c.1140A>G (p.Glu380=) rs2143530276
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer) rs2040092520
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1144C>G (p.Gln382Glu) rs769718381
NM_000135.4(FANCA):c.1145A>G (p.Gln382Arg) rs747766198
NM_000135.4(FANCA):c.1146G>A (p.Gln382=) rs781015145
NM_000135.4(FANCA):c.1147del (p.Glu383fs) rs2040092247
NM_000135.4(FANCA):c.1149G>A (p.Glu383=)
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile) rs751071791
NM_000135.4(FANCA):c.1152T>G (p.Val384=)
NM_000135.4(FANCA):c.1153C>G (p.His385Asp)
NM_000135.4(FANCA):c.1154A>G (p.His385Arg)
NM_000135.4(FANCA):c.1155C>T (p.His385=)
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
NM_000135.4(FANCA):c.1161G>C (p.Gln387His)
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter) rs2040091746
NM_000135.4(FANCA):c.1164_1165del (p.Arg388fs) rs2040091643
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)
NM_000135.4(FANCA):c.1167G>A (p.Val389=)
NM_000135.4(FANCA):c.1168C>A (p.Leu390Ile)
NM_000135.4(FANCA):c.1169T>G (p.Leu390Arg) rs2143529925
NM_000135.4(FANCA):c.116G>C (p.Arg39Thr) rs151089298
NM_000135.4(FANCA):c.1170C>G (p.Leu390=) rs2143529917
NM_000135.4(FANCA):c.1170C>T (p.Leu390=)
NM_000135.4(FANCA):c.1173C>G (p.Ser391=) rs2040091412
NM_000135.4(FANCA):c.1173C>T (p.Ser391=) rs2040091412
NM_000135.4(FANCA):c.1179G>C (p.Val393=)
NM_000135.4(FANCA):c.1183G>A (p.Ala395Thr) rs202062504
NM_000135.4(FANCA):c.1185C>G (p.Ala395=) rs2143529838
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs) rs2143529729
NM_000135.4(FANCA):c.1186C>G (p.Leu396Val)
NM_000135.4(FANCA):c.1186C>T (p.Leu396=)
NM_000135.4(FANCA):c.1188G>A (p.Leu396=)
NM_000135.4(FANCA):c.118dup (p.Ala40fs) rs2143724113
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs) rs2040090895
NM_000135.4(FANCA):c.1194C>G (p.Val398=) rs1158857420
NM_000135.4(FANCA):c.1194del (p.Cys399fs) rs2040090995
NM_000135.4(FANCA):c.1195T>C (p.Cys399Arg) rs2040090935
NM_000135.4(FANCA):c.1198T>C (p.Phe400Leu) rs1360355945
NM_000135.4(FANCA):c.119C>T (p.Ala40Val) rs563060518
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.11C>T (p.Ser4Leu)
NM_000135.4(FANCA):c.1202del (p.Pro401fs) rs2040090741
NM_000135.4(FANCA):c.1208C>T (p.Ala403Val)
NM_000135.4(FANCA):c.1209G>T (p.Ala403=)
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)
NM_000135.4(FANCA):c.1216C>A (p.Leu406Met)
NM_000135.4(FANCA):c.1216C>T (p.Leu406=)
NM_000135.4(FANCA):c.1218G>A (p.Leu406=) rs2040090132
NM_000135.4(FANCA):c.121C>G (p.Gln41Glu) rs764533094
NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg) rs2040089994
NM_000135.4(FANCA):c.1221T>C (p.Leu407=) rs780963734
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)
NM_000135.4(FANCA):c.1225+10del rs2143529499
NM_000135.4(FANCA):c.1225+13G>A rs201201281
NM_000135.4(FANCA):c.1225+13G>C rs201201281
NM_000135.4(FANCA):c.1225+15G>A
NM_000135.4(FANCA):c.1225+17G>A
NM_000135.4(FANCA):c.1225+17G>C
NM_000135.4(FANCA):c.1225+20C>A rs199534742
NM_000135.4(FANCA):c.1225+20C>G
NM_000135.4(FANCA):c.1225+20C>T rs199534742
NM_000135.4(FANCA):c.1225+20del rs2143529337
NM_000135.4(FANCA):c.1225+2T>A
NM_000135.4(FANCA):c.1225+2T>G
NM_000135.4(FANCA):c.1225+7_1225+15del rs2143529419
NM_000135.4(FANCA):c.1226-13G>A rs377159744
NM_000135.4(FANCA):c.1226-18G>C
NM_000135.4(FANCA):c.1226-1G>C rs1417768931
NM_000135.4(FANCA):c.1226-2A>C
NM_000135.4(FANCA):c.1226-6A>C rs200953509
NM_000135.4(FANCA):c.1226-6A>G
NM_000135.4(FANCA):c.1226-6_1226-2del rs2040076730
NM_000135.4(FANCA):c.1227C>T (p.Asp409=) rs139944072
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
NM_000135.4(FANCA):c.123G>A (p.Gln41=)
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile) rs1555561439
NM_000135.4(FANCA):c.1255T>G (p.Phe419Val) rs2143526434
NM_000135.4(FANCA):c.1256T>C (p.Phe419Ser)
NM_000135.4(FANCA):c.1257C>G (p.Phe419Leu) rs764140346
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
NM_000135.4(FANCA):c.1259del (p.Glu420fs)
NM_000135.4(FANCA):c.1266C>T (p.Cys422=)
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1268A>G (p.Gln423Arg)
NM_000135.4(FANCA):c.1269G>A (p.Gln423=)
NM_000135.4(FANCA):c.126A>G (p.Lys42=)
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
NM_000135.4(FANCA):c.1275C>T (p.Asp425=)
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly) rs985078327
NM_000135.4(FANCA):c.1277G>T (p.Ser426Ile)
NM_000135.4(FANCA):c.1278C>T (p.Ser426=)
NM_000135.4(FANCA):c.1281G>A (p.Met427Ile) rs747322973
NM_000135.4(FANCA):c.1282G>A (p.Val428Ile) rs1026686587
NM_000135.4(FANCA):c.1283T>C (p.Val428Ala)
NM_000135.4(FANCA):c.1285A>C (p.Thr429Pro)
NM_000135.4(FANCA):c.1286C>G (p.Thr429Ser)
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile) rs1598151907
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.1289C>G (p.Ala430Gly) rs772567344
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294C>T (p.Leu432=) rs1232228823
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
NM_000135.4(FANCA):c.1296G>A (p.Leu432=)
NM_000135.4(FANCA):c.1296G>C (p.Leu432=)
NM_000135.4(FANCA):c.1298T>C (p.Val433Ala) rs1015816469
NM_000135.4(FANCA):c.129A>G (p.Leu43=) rs902594434
NM_000135.4(FANCA):c.12G>A (p.Ser4=) rs1009539881
NM_000135.4(FANCA):c.12G>T (p.Ser4=) rs1009539881
NM_000135.4(FANCA):c.1300G>A (p.Val434Met)
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro) rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1308G>C (p.Gln436His) rs1316078638
NM_000135.4(FANCA):c.1311A>G (p.Ala437=) rs2143525993
NM_000135.4(FANCA):c.1314A>C (p.Ala438=)
NM_000135.4(FANCA):c.1314A>T (p.Ala438=) rs2143525963
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter) rs2040073991
NM_000135.4(FANCA):c.1323C>A (p.Gly441=)
NM_000135.4(FANCA):c.1323C>T (p.Gly441=) rs1377621197
NM_000135.4(FANCA):c.1326C>G (p.Pro442=)
NM_000135.4(FANCA):c.1326C>T (p.Pro442=)
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.132G>A (p.Lys44=) rs200428379
NM_000135.4(FANCA):c.1330G>A (p.Ala444Thr) rs771047848
NM_000135.4(FANCA):c.1332G>T (p.Ala444=) rs377705748
NM_000135.4(FANCA):c.1335C>T (p.Phe445=)
NM_000135.4(FANCA):c.1336C>T (p.Leu446=)
NM_000135.4(FANCA):c.1338G>T (p.Leu446=)
NM_000135.4(FANCA):c.1339del (p.Ser447fs) rs2143525756
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1341A>G (p.Ser447=) rs895188167
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys) rs769203048
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs) rs2143525701
NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter) rs1199670660
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr) rs2040073158
NM_000135.4(FANCA):c.1348G>C (p.Asp450His)
NM_000135.4(FANCA):c.1348G>T (p.Asp450Tyr) rs1262122499
NM_000135.4(FANCA):c.1349A>T (p.Asp450Val) rs1213289620
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly) rs2040072996
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter) rs2143525603
NM_000135.4(FANCA):c.1356C>T (p.Phe452=)
NM_000135.4(FANCA):c.1358A>G (p.Lys453Arg) rs139248966
NM_000135.4(FANCA):c.1359+10C>G rs34159559
NM_000135.4(FANCA):c.1359+12G>A
NM_000135.4(FANCA):c.1359+14del rs2143525386
NM_000135.4(FANCA):c.1359+16A>T rs200016746
NM_000135.4(FANCA):c.1359+18C>T
NM_000135.4(FANCA):c.1359+19G>A
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1359+20G>T
NM_000135.4(FANCA):c.1359+3A>G
NM_000135.4(FANCA):c.1359+4A>T rs35476732
NM_000135.4(FANCA):c.1359+7G>A rs749311482
NM_000135.4(FANCA):c.1359+8A>G
NM_000135.4(FANCA):c.1359+9C>A rs375487246
NM_000135.4(FANCA):c.1359+9C>T rs375487246
NM_000135.4(FANCA):c.1360-10C>T
NM_000135.4(FANCA):c.1360-13T>A
NM_000135.4(FANCA):c.1360-13TC[2] rs1598140813
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.4(FANCA):c.1360-17C>T
NM_000135.4(FANCA):c.1360-18G>C
NM_000135.4(FANCA):c.1360-2A>G
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1360-5C>T rs2143477318
NM_000135.4(FANCA):c.1360-64_1360del rs2143477254
NM_000135.4(FANCA):c.1360-8C>T rs1407800718
NM_000135.4(FANCA):c.1364C>A (p.Ser455Tyr)
NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)
NM_000135.4(FANCA):c.1371G>A (p.Gly457=) rs369988875
NM_000135.4(FANCA):c.1374C>T (p.Ser458=)
NM_000135.4(FANCA):c.1378C>A (p.Arg460=) rs1438828232
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.137C>G (p.Ser46Ter) rs2041098068
NM_000135.4(FANCA):c.137C>T (p.Ser46Leu) rs2041098068
NM_000135.4(FANCA):c.1380A>T (p.Arg460=)
NM_000135.4(FANCA):c.1383C>T (p.Gly461=)
NM_000135.4(FANCA):c.1386C>T (p.Tyr462=) rs2143477066
NM_000135.4(FANCA):c.1388A>G (p.His463Arg) rs2039847321
NM_000135.4(FANCA):c.1389T>C (p.His463=) rs756913331
NM_000135.4(FANCA):c.1392C>A (p.Gly464=) rs2143477008
NM_000135.4(FANCA):c.1392C>T (p.Gly464=) rs2143477008
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser) rs2039847109
NM_000135.4(FANCA):c.1399A>G (p.Lys467Glu)
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr) rs1190475225
NM_000135.4(FANCA):c.139G>C (p.Ala47Pro)
NM_000135.4(FANCA):c.1400A>G (p.Lys467Arg) rs2143476944
NM_000135.4(FANCA):c.1403A>C (p.Lys468Thr) rs1598140745
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg) rs1598140745
NM_000135.4(FANCA):c.1405G>T (p.Ala469Ser) rs1236726652
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val) rs2039846606
NM_000135.4(FANCA):c.1407C>T (p.Ala469=) rs1325894062
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met) rs752092543
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val) rs752092543
NM_000135.4(FANCA):c.1410G>C (p.Leu470=) rs2143476857
NM_000135.4(FANCA):c.1413C>A (p.Val471=)
NM_000135.4(FANCA):c.1413C>G (p.Val471=) rs201561753
NM_000135.4(FANCA):c.1417del (p.Leu473fs) rs2039846326
NM_000135.4(FANCA):c.1418T>C (p.Leu473Pro)
NM_000135.4(FANCA):c.1425G>C (p.Thr475=)
NM_000135.4(FANCA):c.1428C>G (p.Phe476Leu)
NM_000135.4(FANCA):c.1430del (p.Leu477fs) rs2039845956
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter) rs1432415523
NM_000135.4(FANCA):c.1434A>C (p.Ser478=)
NM_000135.4(FANCA):c.1434A>G (p.Ser478=)
NM_000135.4(FANCA):c.1437A>G (p.Glu479=) rs2143476678
NM_000135.4(FANCA):c.1438C>T (p.Leu480Phe) rs1444498671
NM_000135.4(FANCA):c.1439T>G (p.Leu480Arg) rs2143476647
NM_000135.4(FANCA):c.1440C>A (p.Leu480=)
NM_000135.4(FANCA):c.1440C>G (p.Leu480=) rs1401053307
NM_000135.4(FANCA):c.1441G>A (p.Val481Met)
NM_000135.4(FANCA):c.1443G>A (p.Val481=)
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
NM_000135.4(FANCA):c.144G>A (p.Val48=) rs2143723828
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter) rs2039845162
NM_000135.4(FANCA):c.1454C>A (p.Ser485Tyr)
NM_000135.4(FANCA):c.1454C>T (p.Ser485Phe) rs760790832
NM_000135.4(FANCA):c.1456C>A (p.Pro486Thr)
NM_000135.4(FANCA):c.1456C>T (p.Pro486Ser)
NM_000135.4(FANCA):c.1459C>G (p.Arg487Gly) rs143083764
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.145C>A (p.Arg49Ser)
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly) rs929925295
NM_000135.4(FANCA):c.1461G>A (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.1461G>C (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.1465C>T (p.Leu489=)
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) rs1266348463
NM_000135.4(FANCA):c.146G>A (p.Arg49His)
NM_000135.4(FANCA):c.1470+13C>G
NM_000135.4(FANCA):c.1470+17C>T rs2039843549
NM_000135.4(FANCA):c.1470+19C>T
NM_000135.4(FANCA):c.1470+1G>A rs1555556175
NM_000135.4(FANCA):c.1470+1G>T rs1555556175
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1470+6A>G
NM_000135.4(FANCA):c.1470+7A>C
NM_000135.4(FANCA):c.1470G>A (p.Gln490=) rs2039844218
NM_000135.4(FANCA):c.1470G>C (p.Gln490His) rs2039844218
NM_000135.4(FANCA):c.1471-10C>G rs368356709
NM_000135.4(FANCA):c.1471-12A>C
NM_000135.4(FANCA):c.1471-13TATC[3]
NM_000135.4(FANCA):c.1471-14C>G rs764284226
NM_000135.4(FANCA):c.1471-15G>A
NM_000135.4(FANCA):c.1471-1G>T rs2039777078
NM_000135.4(FANCA):c.1471-20G>C rs374579239
NM_000135.4(FANCA):c.1471-20G>T
NM_000135.4(FANCA):c.1471-5C>T rs1035775047
NM_000135.4(FANCA):c.1471-738_1627-883del
NM_000135.4(FANCA):c.1471-7T>A
NM_000135.4(FANCA):c.1471-9T>C rs990892001
NM_000135.4(FANCA):c.1471-9_1471-6del rs1372488492
NM_000135.4(FANCA):c.1472_1566+1del rs1567628967
NM_000135.4(FANCA):c.1473G>T (p.Val491=)
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1476C>T (p.His492=)
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs) rs1555554788
NM_000135.4(FANCA):c.147C>G (p.Arg49=) rs762962148
NM_000135.4(FANCA):c.147C>T (p.Arg49=) rs762962148
NM_000135.4(FANCA):c.1482C>A (p.Leu494=)
NM_000135.4(FANCA):c.1482C>G (p.Leu494=) rs1431996844
NM_000135.4(FANCA):c.1482C>T (p.Leu494=)
NM_000135.4(FANCA):c.1483C>G (p.His495Asp)
NM_000135.4(FANCA):c.1483C>T (p.His495Tyr)
NM_000135.4(FANCA):c.1491C>G (p.Pro497=)
NM_000135.4(FANCA):c.1492C>G (p.Leu498Val) rs1486117630
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
NM_000135.4(FANCA):c.1494G>A (p.Leu498=)
NM_000135.4(FANCA):c.1494G>C (p.Leu498=) rs747718961
NM_000135.4(FANCA):c.1498C>G (p.Pro500Ala) rs776371246
NM_000135.4(FANCA):c.149T>C (p.Leu50Pro) rs2143723758
NM_000135.4(FANCA):c.14G>A (p.Trp5Ter) rs2041143697
NM_000135.4(FANCA):c.1500_1501delinsTA (p.Gly501Ser) rs1598136992
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) rs878853661
NM_000135.4(FANCA):c.1503C>G (p.Gly501=)
NM_000135.4(FANCA):c.1504A>G (p.Lys502Glu)
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
NM_000135.4(FANCA):c.1508dup (p.Tyr503Ter) rs2039775751
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter) rs1598136954
NM_000135.4(FANCA):c.1509C>T (p.Tyr503=) rs1598136954
NM_000135.4(FANCA):c.150C>A (p.Leu50=)
NM_000135.4(FANCA):c.150C>G (p.Leu50=) rs1322931574
NM_000135.4(FANCA):c.150C>T (p.Leu50=) rs1322931574
NM_000135.4(FANCA):c.1511G>A (p.Arg504His) rs778045457
NM_000135.4(FANCA):c.1511G>T (p.Arg504Leu)
NM_000135.4(FANCA):c.1515C>T (p.Ser505=)
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.151C>G (p.Leu51Val) rs1287320584
NM_000135.4(FANCA):c.151C>T (p.Leu51=) rs1287320584
NM_000135.4(FANCA):c.1527C>G (p.Asp509Glu) rs755009951
NM_000135.4(FANCA):c.1530C>T (p.Tyr510=)
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter) rs2039774778
NM_000135.4(FANCA):c.153G>A (p.Leu51=) rs76278570
NM_000135.4(FANCA):c.153G>T (p.Leu51=)
NM_000135.4(FANCA):c.1542C>G (p.Ala514=) rs962460972
NM_000135.4(FANCA):c.1542C>T (p.Ala514=) rs962460972
NM_000135.4(FANCA):c.1556C>G (p.Ala519Gly)
NM_000135.4(FANCA):c.1559A>C (p.Asp520Ala)
NM_000135.4(FANCA):c.155G>A (p.Arg52Gln)
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
NM_000135.4(FANCA):c.1560C>G (p.Asp520Glu) rs1486566215
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe)
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu) rs1555554630
NM_000135.4(FANCA):c.1566+10C>A rs774919321
NM_000135.4(FANCA):c.1566+10C>G
NM_000135.4(FANCA):c.1566+10C>T rs774919321
NM_000135.4(FANCA):c.1566+12C>G
NM_000135.4(FANCA):c.1566+12_1566+15del
NM_000135.4(FANCA):c.1566+14C>T
NM_000135.4(FANCA):c.1566+15C>T
NM_000135.4(FANCA):c.1566+16A>G
NM_000135.4(FANCA):c.1566+19C>A rs2143460183
NM_000135.4(FANCA):c.1566+1G>T
NM_000135.4(FANCA):c.1566+20C>G
NM_000135.4(FANCA):c.1566+2C>G
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1566+3A>C rs2039773398
NM_000135.4(FANCA):c.1566+5G>A rs760087031
NM_000135.4(FANCA):c.1566+9T>G rs1045659143
NM_000135.4(FANCA):c.1567-11C>G
NM_000135.4(FANCA):c.1567-13G>A rs2143459544
NM_000135.4(FANCA):c.1567-13_1567-12del
NM_000135.4(FANCA):c.1567-15G>A
NM_000135.4(FANCA):c.1567-15_1567-10del rs2143459500
NM_000135.4(FANCA):c.1567-16T>C
NM_000135.4(FANCA):c.1567-1G>C rs1464032361
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
NM_000135.4(FANCA):c.1568T>A (p.Val523Asp) rs2039769336
NM_000135.4(FANCA):c.1570T>C (p.Ser524Pro)
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys) rs753719658
NM_000135.4(FANCA):c.1572T>C (p.Ser524=)
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu) rs755925068
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)
NM_000135.4(FANCA):c.1578A>G (p.Glu526=) rs2143459307
NM_000135.4(FANCA):c.1581C>T (p.Asn527=) rs1244511322
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter) rs2039768709
NM_000135.4(FANCA):c.1587A>G (p.Gly529=) rs1300063021
NM_000135.4(FANCA):c.1588C>G (p.Leu530Val) rs1567628801
NM_000135.4(FANCA):c.1588C>T (p.Leu530Phe) rs1567628801
NM_000135.4(FANCA):c.1590_1591del (p.Tyr531fs) rs2143459144
NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter) rs762342197
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln) rs374490484
NM_000135.4(FANCA):c.1596G>A (p.Glu532=)
NM_000135.4(FANCA):c.1597G>T (p.Asp533Tyr)
NM_000135.4(FANCA):c.159C>T (p.Ser53=)
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)
NM_000135.4(FANCA):c.15G>C (p.Trp5Cys) rs2143731999
NM_000135.4(FANCA):c.1606T>G (p.Ser536Ala)
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.1607C>T (p.Ser536Leu)
NM_000135.4(FANCA):c.1608A>G (p.Ser536=)
NM_000135.4(FANCA):c.1614G>C (p.Gly538=)
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1615dup (p.Asp539fs)
NM_000135.4(FANCA):c.1618A>G (p.Ile540Val)
NM_000135.4(FANCA):c.1620T>C (p.Ile540=) rs1200375986
NM_000135.4(FANCA):c.1624G>A (p.Glu542Lys)
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.1626+14A>G
NM_000135.4(FANCA):c.1626+16C>A rs1800333
NM_000135.4(FANCA):c.1626+17C>G
NM_000135.4(FANCA):c.1626+17C>T rs777619836
NM_000135.4(FANCA):c.1626+18C>T
NM_000135.4(FANCA):c.1626+20G>A
NM_000135.4(FANCA):c.1626+5T>A rs2143458841
NM_000135.4(FANCA):c.1626+5T>C
NM_000135.4(FANCA):c.1626+6G>A
NM_000135.4(FANCA):c.1626+8T>A rs746097975
NM_000135.4(FANCA):c.1626+967_2015-679del
NM_000135.4(FANCA):c.1626G>A (p.Glu542=) rs2143458860
NM_000135.4(FANCA):c.1627-10T>C
NM_000135.4(FANCA):c.1627-11A>G
NM_000135.4(FANCA):c.1627-15C>G
NM_000135.4(FANCA):c.1627-16C>G
NM_000135.4(FANCA):c.1627-17C>G
NM_000135.4(FANCA):c.1627-17C>T
NM_000135.4(FANCA):c.1627-19C>T rs2039645766
NM_000135.4(FANCA):c.1627-1G>T rs2039644862
NM_000135.4(FANCA):c.1627-29_1627-8del rs2143433096
NM_000135.4(FANCA):c.1627-2A>G rs2143433058
NM_000135.4(FANCA):c.1627-4C>T
NM_000135.4(FANCA):c.1627-5A>G rs2039645024
NM_000135.4(FANCA):c.1627-8G>T
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser) rs763074159
NM_000135.4(FANCA):c.1628C>T (p.Pro543Leu) rs2039644737
NM_000135.4(FANCA):c.1629C>G (p.Pro543=) rs2143433021
NM_000135.4(FANCA):c.1630del (p.His544fs)
NM_000135.4(FANCA):c.1630dup (p.His544fs) rs1598129626
NM_000135.4(FANCA):c.1633A>G (p.Ser545Gly)
NM_000135.4(FANCA):c.1634G>C (p.Ser545Thr)
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro) rs2039644384
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1642C>G (p.Leu548Val)
NM_000135.4(FANCA):c.1642C>T (p.Leu548Phe)
NM_000135.4(FANCA):c.1647G>A (p.Gln549=)
NM_000135.4(FANCA):c.1647G>C (p.Gln549His)
NM_000135.4(FANCA):c.1651G>A (p.Val551Ile) rs2039643856
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)
NM_000135.4(FANCA):c.1659G>A (p.Lys553=)
NM_000135.4(FANCA):c.1660G>A (p.Ala554Thr) rs2143432789
NM_000135.4(FANCA):c.1662C>T (p.Ala554=) rs1235279691
NM_000135.4(FANCA):c.1665C>A (p.Ile555=) rs757932868
NM_000135.4(FANCA):c.1665C>G (p.Ile555Met)
NM_000135.4(FANCA):c.166G>A (p.Asp56Asn) rs1360481164
NM_000135.4(FANCA):c.1671G>A (p.Val557=)
NM_000135.4(FANCA):c.1677G>A (p.Glu559=)
NM_000135.4(FANCA):c.1679A>C (p.His560Pro) rs759940726
NM_000135.4(FANCA):c.1679A>G (p.His560Arg)
NM_000135.4(FANCA):c.167A>C (p.Asp56Ala)
NM_000135.4(FANCA):c.1680T>C (p.His560=) rs2143432638
NM_000135.4(FANCA):c.1681A>T (p.Thr561Ser) rs2143432620
NM_000135.4(FANCA):c.1682C>G (p.Thr561Arg) rs148154682
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.1683G>C (p.Thr561=)
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs) rs2039643136
NM_000135.4(FANCA):c.1686G>A (p.Gly562=) rs1457207387
NM_000135.4(FANCA):c.1686G>T (p.Gly562=)
NM_000135.4(FANCA):c.168C>T (p.Asp56=)
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1690A>G (p.Ile564Val)
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr) rs769842591
NM_000135.4(FANCA):c.1698C>T (p.Val566=)
NM_000135.4(FANCA):c.1699A>G (p.Thr567Ala)
NM_000135.4(FANCA):c.16G>T (p.Val6Phe)
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.16dup (p.Val6fs)
NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser) rs775083851
NM_000135.4(FANCA):c.1701C>A (p.Thr567=) rs745466726
NM_000135.4(FANCA):c.1702G>C (p.Val568Leu) rs778754162
NM_000135.4(FANCA):c.1703del (p.Val568fs) rs2039642419
NM_000135.4(FANCA):c.1704C>G (p.Val568=) rs914213734
NM_000135.4(FANCA):c.1704C>T (p.Val568=)
NM_000135.4(FANCA):c.1705A>G (p.Met569Val)
NM_000135.4(FANCA):c.1709A>G (p.Glu570Gly) rs2039642209
NM_000135.4(FANCA):c.1709_1715+4del rs2039641869
NM_000135.4(FANCA):c.1712C>T (p.Ala571Val)
NM_000135.4(FANCA):c.1715+13G>T
NM_000135.4(FANCA):c.1715+14C>G
NM_000135.4(FANCA):c.1715+15C>A rs755381554
NM_000135.4(FANCA):c.1715+1G>A
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1715+3_1715+13del rs2143432038
NM_000135.4(FANCA):c.1715+4G>A
NM_000135.4(FANCA):c.1715+7T>C
NM_000135.4(FANCA):c.1715+8G>A rs1209332039
NM_000135.4(FANCA):c.1716-11C>G
NM_000135.4(FANCA):c.1716-13C>G
NM_000135.4(FANCA):c.1716-14T>C
NM_000135.4(FANCA):c.1716-16C>A rs942124383
NM_000135.4(FANCA):c.1716-16C>T rs942124383
NM_000135.4(FANCA):c.1716-18T>C
NM_000135.4(FANCA):c.1716-2A>G
NM_000135.4(FANCA):c.1716-6T>C rs2143424754
NM_000135.4(FANCA):c.1716-6_1716-5dup
NM_000135.4(FANCA):c.1716-7_1716-6del rs1252205510
NM_000135.4(FANCA):c.1716-9G>A
NM_000135.4(FANCA):c.1716-9G>T
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter) rs2041096125
NM_000135.4(FANCA):c.1722C>T (p.Phe574=)
NM_000135.4(FANCA):c.1727G>C (p.Arg576Thr) rs1047794894
NM_000135.4(FANCA):c.1733A>G (p.Tyr578Cys) rs2143424595
NM_000135.4(FANCA):c.1736A>G (p.Tyr579Cys)
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)
NM_000135.4(FANCA):c.1738_1742delinsCCGCCT (p.Val580fs) rs2039611494
NM_000135.4(FANCA):c.1739T>G (p.Val580Gly) rs2143424514
NM_000135.4(FANCA):c.173dup (p.Asn58fs) rs2041095962
NM_000135.4(FANCA):c.1743C>T (p.Ser581=) rs2039611416
NM_000135.4(FANCA):c.1746C>T (p.His582=)
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
NM_000135.4(FANCA):c.174T>C (p.Asn58=) rs2143723506
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val) rs145459403
NM_000135.4(FANCA):c.1750del (p.Leu584fs) rs2143424348
NM_000135.4(FANCA):c.1752C>T (p.Leu584=) rs2039611137
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser) rs2039611087
NM_000135.4(FANCA):c.1755C>A (p.Pro585=)
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.1757C>T (p.Ala586Val)
NM_000135.4(FANCA):c.1758C>A (p.Ala586=) rs765437064
NM_000135.4(FANCA):c.1758C>T (p.Ala586=) rs765437064
NM_000135.4(FANCA):c.1764C>T (p.Leu588=)
NM_000135.4(FANCA):c.1769C>G (p.Pro590Arg) rs757637315
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1773A>C (p.Arg591=) rs2143423976
NM_000135.4(FANCA):c.1776+13C>G rs371272310
NM_000135.4(FANCA):c.1776+15C>G rs376346254
NM_000135.4(FANCA):c.1776+15C>T
NM_000135.4(FANCA):c.1776+16C>T
NM_000135.4(FANCA):c.1776+17A>G rs2143423790
NM_000135.4(FANCA):c.1776+5G>A
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1776+8T>G rs2143423903
NM_000135.4(FANCA):c.1776+9G>A rs752878349
NM_000135.4(FANCA):c.1776+9G>C rs752878349
NM_000135.4(FANCA):c.1777-10C>A rs781605892
NM_000135.4(FANCA):c.1777-12C>G
NM_000135.4(FANCA):c.1777-13dup
NM_000135.4(FANCA):c.1777-15C>T rs371919426
NM_000135.4(FANCA):c.1777-17C>G
NM_000135.4(FANCA):c.1777-19G>A
NM_000135.4(FANCA):c.1777-19G>C
NM_000135.4(FANCA):c.1777-2A>G rs2143422990
NM_000135.4(FANCA):c.1777-3_1783del rs2039605605
NM_000135.4(FANCA):c.1777-7C>A
NM_000135.4(FANCA):c.1777-7C>T rs375148599
NM_000135.4(FANCA):c.1779C>A (p.Leu593=) rs1016801509
NM_000135.4(FANCA):c.1779C>T (p.Leu593=) rs1016801509
NM_000135.4(FANCA):c.177C>A (p.Ala59=) rs1439661268
NM_000135.4(FANCA):c.1780C>T (p.Pro594Ser) rs2039605850
NM_000135.4(FANCA):c.1782C>T (p.Pro594=)
NM_000135.4(FANCA):c.1786G>A (p.Val596Ile) rs1391415619
NM_000135.4(FANCA):c.1788C>G (p.Val596=)
NM_000135.4(FANCA):c.1789C>T (p.Pro597Ser)
NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn) rs2039605345
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu) rs2143422796
NM_000135.4(FANCA):c.1795del (p.Ser599fs) rs2143422776
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys) rs562319781
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe) rs562319781
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1797C>A (p.Ser599=) rs2039605171
NM_000135.4(FANCA):c.1797C>T (p.Ser599=) rs2039605171
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro) rs775917892
NM_000135.4(FANCA):c.17T>G (p.Val6Gly) rs1800282
NM_000135.4(FANCA):c.1804G>T (p.Ala602Ser)
NM_000135.4(FANCA):c.1805C>G (p.Ala602Gly) rs374968669
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val) rs374968669
NM_000135.4(FANCA):c.1806G>C (p.Ala602=) rs550064744
NM_000135.4(FANCA):c.1806G>T (p.Ala602=) rs550064744
NM_000135.4(FANCA):c.1809T>C (p.Phe603=) rs1336095406
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup) rs2039604604
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1810A>G (p.Ile604Val) rs2039604673
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1816T>G (p.Ser606Ala) rs770164503
NM_000135.4(FANCA):c.1818T>C (p.Ser606=)
NM_000135.4(FANCA):c.1819C>T (p.Leu607=) rs2143422308
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs) rs2143422286
NM_000135.4(FANCA):c.1821G>C (p.Leu607=) rs2143422265
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter) rs2039604081
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter) rs938278864
NM_000135.4(FANCA):c.1824dup (p.Arg609fs) rs1598127082
NM_000135.4(FANCA):c.1826+11A>G
NM_000135.4(FANCA):c.1826+12C>G rs183513839
NM_000135.4(FANCA):c.1826+17A>G
NM_000135.4(FANCA):c.1826+17A>T
NM_000135.4(FANCA):c.1826+18G>T
NM_000135.4(FANCA):c.1826+20A>G
NM_000135.4(FANCA):c.1826+2T>A rs2039603867
NM_000135.4(FANCA):c.1826+2T>C
NM_000135.4(FANCA):c.1826+3A>G rs925559826
NM_000135.4(FANCA):c.1826+4T>A rs979666807
NM_000135.4(FANCA):c.1826+4T>G rs979666807
NM_000135.4(FANCA):c.1826+5G>A
NM_000135.4(FANCA):c.1826+6C>T rs748528553
NM_000135.4(FANCA):c.1826+8G>A
NM_000135.4(FANCA):c.1826+9C>T
NM_000135.4(FANCA):c.1827-12C>G
NM_000135.4(FANCA):c.1827-12C>T
NM_000135.4(FANCA):c.1827-17G>C
NM_000135.4(FANCA):c.1827-20A>G
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.1827-3C>G rs772236777
NM_000135.4(FANCA):c.1827-4C>A rs775772634
NM_000135.4(FANCA):c.1827-4C>G rs775772634
NM_000135.4(FANCA):c.1827-5T>A rs1378971647
NM_000135.4(FANCA):c.1827-9G>A rs2143393607
NM_000135.4(FANCA):c.1829C>T (p.Ala610Val) rs1598120974
NM_000135.4(FANCA):c.182T>G (p.Leu61Trp)
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
NM_000135.4(FANCA):c.1834A>G (p.Lys612Glu) rs1433333223
NM_000135.4(FANCA):c.1839C>A (p.Ile613=) rs1598120925
NM_000135.4(FANCA):c.1839C>T (p.Ile613=) rs1598120925
NM_000135.4(FANCA):c.183G>A (p.Leu61=) rs1447656431
NM_000135.4(FANCA):c.1840C>T (p.Pro614Ser)
NM_000135.4(FANCA):c.1842C>T (p.Pro614=) rs769546891
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser) rs1567623107
NM_000135.4(FANCA):c.1844C>T (p.Pro615Leu)
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.1845A>G (p.Pro615=) rs1490141721
NM_000135.4(FANCA):c.1847C>T (p.Ser616Phe)
NM_000135.4(FANCA):c.1849C>G (p.Leu617Val)
NM_000135.4(FANCA):c.1849C>T (p.Leu617=) rs2143393232
NM_000135.4(FANCA):c.184C>G (p.Leu62Val) rs2041094921
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.1851G>A (p.Leu617=)
NM_000135.4(FANCA):c.1851G>C (p.Leu617=) rs2143393205
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter) rs747994845
NM_000135.4(FANCA):c.1854C>T (p.Tyr618=) rs747994845
NM_000135.4(FANCA):c.1856C>A (p.Ser619Tyr) rs2039480405
NM_000135.4(FANCA):c.1857C>A (p.Ser619=)
NM_000135.4(FANCA):c.1860C>G (p.Thr620=)
NM_000135.4(FANCA):c.1863C>T (p.Tyr621=)
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)
NM_000135.4(FANCA):c.1868A>G (p.Gln623Arg)
NM_000135.4(FANCA):c.1869G>A (p.Gln623=)
NM_000135.4(FANCA):c.186T>A (p.Leu62=) rs1555580352
NM_000135.4(FANCA):c.1870G>T (p.Ala624Ser) rs1403464170
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val) rs146491000
NM_000135.4(FANCA):c.1872C>T (p.Ala624=) rs571449307
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr) rs139235751
NM_000135.4(FANCA):c.1875C>T (p.Cys625=)
NM_000135.4(FANCA):c.1876T>C (p.Ser626Pro)
NM_000135.4(FANCA):c.1877C>T (p.Ser626Phe) rs769311485
NM_000135.4(FANCA):c.1879G>C (p.Ala627Pro)
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)
NM_000135.4(FANCA):c.188A>C (p.Glu63Ala) rs1567659053
NM_000135.4(FANCA):c.189+10A>G
NM_000135.4(FANCA):c.189+12C>T
NM_000135.4(FANCA):c.189+14G>A
NM_000135.4(FANCA):c.189+14G>T
NM_000135.4(FANCA):c.189+15G>C
NM_000135.4(FANCA):c.189+17G>T
NM_000135.4(FANCA):c.189+19C>T
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.189+20C>A
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.189+3A>G
NM_000135.4(FANCA):c.189+3A>T rs2143723295
NM_000135.4(FANCA):c.189+8G>A rs2143723236
NM_000135.4(FANCA):c.1890G>C (p.Glu630Asp)
NM_000135.4(FANCA):c.1891A>G (p.Lys631Glu)
NM_000135.4(FANCA):c.18C>A (p.Val6=)
NM_000135.4(FANCA):c.18C>G (p.Val6=) rs916719756
NM_000135.4(FANCA):c.190-146_284-1082del
NM_000135.4(FANCA):c.190-14G>A
NM_000135.4(FANCA):c.190-18T>C
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2A>G
NM_000135.4(FANCA):c.190-2_203del rs2143711687
NM_000135.4(FANCA):c.190-494_597-592del
NM_000135.4(FANCA):c.190-5T>C rs368486303
NM_000135.4(FANCA):c.190-7A>G
NM_000135.4(FANCA):c.190-7A>T rs994179410
NM_000135.4(FANCA):c.190-8G>C rs2143711952
NM_000135.4(FANCA):c.1900+10T>C rs1225612280
NM_000135.4(FANCA):c.1900+12G>A
NM_000135.4(FANCA):c.1900+13G>A
NM_000135.4(FANCA):c.1900+14C>T
NM_000135.4(FANCA):c.1900+15C>T
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1900+1del
NM_000135.4(FANCA):c.1900+20G>T
NM_000135.4(FANCA):c.1900+6T>C
NM_000135.4(FANCA):c.1900+7T>C rs377401016
NM_000135.4(FANCA):c.1900+8C>G
NM_000135.4(FANCA):c.1900+8C>T
NM_000135.4(FANCA):c.1901-13C>G
NM_000135.4(FANCA):c.1901-14C>A
NM_000135.4(FANCA):c.1901-17C>T rs373785724
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-3C>T
NM_000135.4(FANCA):c.1901-5C>G rs1060504375
NM_000135.4(FANCA):c.1901-7C>G rs1449605030
NM_000135.4(FANCA):c.1901-7C>T
NM_000135.4(FANCA):c.1901-7_1901-5del rs2143367972
NM_000135.4(FANCA):c.1901-8_1901-6del rs1263015757
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1903G>A (p.Ala635Thr)
NM_000135.4(FANCA):c.1904C>A (p.Ala635Glu) rs142217479
NM_000135.4(FANCA):c.1907C>T (p.Ala636Val) rs2143367748
NM_000135.4(FANCA):c.1911G>A (p.Leu637=) rs914305609
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) rs2143367693
NM_000135.4(FANCA):c.1913G>A (p.Gly638Glu)
NM_000135.4(FANCA):c.1920G>A (p.Arg640=) rs2039390557
NM_000135.4(FANCA):c.1921G>A (p.Ala641Thr) rs867961005
NM_000135.4(FANCA):c.1923A>C (p.Ala641=) rs2143367561
NM_000135.4(FANCA):c.1923A>G (p.Ala641=)
NM_000135.4(FANCA):c.1926A>C (p.Glu642Asp)
NM_000135.4(FANCA):c.1926A>G (p.Glu642=) rs2039390337
NM_000135.4(FANCA):c.192A>G (p.Val64=)
NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser) rs924548467
NM_000135.4(FANCA):c.1932C>G (p.Asn644Lys) rs1598116392
NM_000135.4(FANCA):c.1932C>T (p.Asn644=) rs1598116392
NM_000135.4(FANCA):c.1934C>G (p.Ser645Cys)
NM_000135.4(FANCA):c.1935T>C (p.Ser645=) rs2143367365
NM_000135.4(FANCA):c.1935T>G (p.Ser645=) rs2143367365
NM_000135.4(FANCA):c.1940A>G (p.Glu647Gly) rs1374330952
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys) rs1427276212
NM_000135.4(FANCA):c.1945C>T (p.Pro649Ser)
NM_000135.4(FANCA):c.1947C>T (p.Pro649=)
NM_000135.4(FANCA):c.1948dup (p.Leu650fs)
NM_000135.4(FANCA):c.1949T>A (p.Leu650Gln)
NM_000135.4(FANCA):c.1950G>A (p.Leu650=)
NM_000135.4(FANCA):c.1950G>T (p.Leu650=)
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter) rs140785340
NM_000135.4(FANCA):c.1953del (p.Gln652fs)
NM_000135.4(FANCA):c.1959C>A (p.Leu653=) rs368643963
NM_000135.4(FANCA):c.195A>C (p.Glu65Asp) rs2041029016
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)
NM_000135.4(FANCA):c.1962A>C (p.Thr654=)
NM_000135.4(FANCA):c.1966G>A (p.Ala656Thr)
NM_000135.4(FANCA):c.1968A>C (p.Ala656=)
NM_000135.4(FANCA):c.196G>T (p.Gly66Cys)
NM_000135.4(FANCA):c.1971G>T (p.Leu657=) rs1343452026
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)
NM_000135.4(FANCA):c.1978C>T (p.Leu660=)
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.197G>A (p.Gly66Asp)
NM_000135.4(FANCA):c.1980G>T (p.Leu660=)
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.1985C>T (p.Ala662Val)
NM_000135.4(FANCA):c.1986C>A (p.Ala662=) rs568935135
NM_000135.4(FANCA):c.1986C>G (p.Ala662=) rs568935135
NM_000135.4(FANCA):c.1989C>T (p.Ser663=)
NM_000135.4(FANCA):c.1991T>G (p.Met664Arg)
NM_000135.4(FANCA):c.1998C>T (p.Asp666=)
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala) rs147300317
NM_000135.4(FANCA):c.1999C>T (p.Pro667Ser) rs147300317
NM_000135.4(FANCA):c.19C>A (p.Pro7Thr)
NM_000135.4(FANCA):c.19C>G (p.Pro7Ala) rs780667753
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser) rs780667753
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1del (p.Met1fs)
NM_000135.4(FANCA):c.2000C>A (p.Pro667His) rs755293596
NM_000135.4(FANCA):c.2000C>G (p.Pro667Arg)
NM_000135.4(FANCA):c.2000C>T (p.Pro667Leu) rs755293596
NM_000135.4(FANCA):c.2001C>T (p.Pro667=)
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) rs2039386741
NM_000135.4(FANCA):c.200del (p.Pro67fs)
NM_000135.4(FANCA):c.2010T>G (p.Arg670=)
NM_000135.4(FANCA):c.2012A>T (p.Asp671Val)
NM_000135.4(FANCA):c.2014+10G>A
NM_000135.4(FANCA):c.2014+10G>T rs1567620967
NM_000135.4(FANCA):c.2014+11A>T
NM_000135.4(FANCA):c.2014+16_2014+27del
NM_000135.4(FANCA):c.2014+18C>T rs758580921
NM_000135.4(FANCA):c.2014+1G>A
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2014+1del rs2143366415
NM_000135.4(FANCA):c.2014+20C>G rs376320049
NM_000135.4(FANCA):c.2014+20C>T
NM_000135.4(FANCA):c.2014+5G>A
NM_000135.4(FANCA):c.2014+7A>G
NM_000135.4(FANCA):c.2015-16G>C rs2039337410
NM_000135.4(FANCA):c.2015-1G>A rs1555548632
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2015-20_2015-17del
NM_000135.4(FANCA):c.2015-2A>C rs2143351760
NM_000135.4(FANCA):c.2015-4G>A rs373954227
NM_000135.4(FANCA):c.2015-4G>C
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2015-8C>G
NM_000135.4(FANCA):c.2015-8del rs1567619964
NM_000135.4(FANCA):c.2015-9C>T rs2143351892
NM_000135.4(FANCA):c.2019A>G (p.Ile673Met)
NM_000135.4(FANCA):c.201A>C (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2023G>A (p.Ala675Thr) rs752701423
NM_000135.4(FANCA):c.2023G>C (p.Ala675Pro) rs752701423
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val) rs986889143
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs) rs2143351554
NM_000135.4(FANCA):c.2028G>A (p.Gln676=) rs2039336156
NM_000135.4(FANCA):c.2028G>C (p.Gln676His) rs2039336156
NM_000135.4(FANCA):c.202C>T (p.Leu68=) rs767193138
NM_000135.4(FANCA):c.2034A>C (p.Ala678=) rs2143351424
NM_000135.4(FANCA):c.2034A>G (p.Ala678=) rs2143351424
NM_000135.4(FANCA):c.203T>G (p.Leu68Arg)
NM_000135.4(FANCA):c.2043T>C (p.Ser681=)
NM_000135.4(FANCA):c.204G>A (p.Leu68=) rs759150554
NM_000135.4(FANCA):c.2050C>A (p.Leu684Met)
NM_000135.4(FANCA):c.2050C>G (p.Leu684Val) rs1284083461
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
NM_000135.4(FANCA):c.2052G>T (p.Leu684=) rs562025330
NM_000135.4(FANCA):c.2053A>C (p.Arg685=)
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs) rs2143351188
NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr) rs1183781456
NM_000135.4(FANCA):c.2059G>A (p.Val687Ile)
NM_000135.4(FANCA):c.2060T>C (p.Val687Ala)
NM_000135.4(FANCA):c.2062C>T (p.Leu688=)
NM_000135.4(FANCA):c.2064G>C (p.Leu688=) rs2143351022
NM_000135.4(FANCA):c.2066del (p.Gly689fs) rs2039334639
NM_000135.4(FANCA):c.2067C>G (p.Gly689=) rs2143350973
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer) rs2143711627
NM_000135.4(FANCA):c.2070C>T (p.His690=) rs1422723344
NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile)
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter) rs941660593
NM_000135.4(FANCA):c.2082C>T (p.Asp694=)
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2087G>A (p.Ser696Asn)
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu) rs376888740
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp) rs777863668
NM_000135.4(FANCA):c.2091T>G (p.Val697=)
NM_000135.4(FANCA):c.2093A>C (p.Glu698Ala) rs2143350667
NM_000135.4(FANCA):c.2095A>T (p.Ile699Leu)
NM_000135.4(FANCA):c.2096T>C (p.Ile699Thr) rs752652496
NM_000135.4(FANCA):c.2098T>A (p.Ser700Thr) rs767631694
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro) rs767631694
NM_000135.4(FANCA):c.2099C>T (p.Ser700Leu)
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln) rs772712346
NM_000135.4(FANCA):c.20C>G (p.Pro7Arg) rs772712346
NM_000135.4(FANCA):c.2106T>A (p.Ile702=)
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2109G>A (p.Gln703=) rs371458363
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val) rs1555548507
NM_000135.4(FANCA):c.2118C>G (p.Ile706Met)
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)
NM_000135.4(FANCA):c.2121C>T (p.Asn707=) rs544923702
NM_000135.4(FANCA):c.2121del (p.Asn707fs) rs2039331837
NM_000135.4(FANCA):c.2126C>G (p.Pro709Arg)
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2127G>C (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2129G>T (p.Arg710Ile) rs2039331440
NM_000135.4(FANCA):c.2130A>G (p.Arg710=)
NM_000135.4(FANCA):c.2130A>T (p.Arg710Ser) rs2143350061
NM_000135.4(FANCA):c.2131C>T (p.Leu711=)
NM_000135.4(FANCA):c.2132T>C (p.Leu711Pro) rs2039331306
NM_000135.4(FANCA):c.2133G>A (p.Leu711=)
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys) rs774565293
NM_000135.4(FANCA):c.213A>C (p.Lys71Asn)
NM_000135.4(FANCA):c.213A>T (p.Lys71Asn) rs2041027459
NM_000135.4(FANCA):c.2140C>G (p.Arg714Gly) rs200284845
NM_000135.4(FANCA):c.2143G>A (p.Glu715Lys)
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter) rs781436006
NM_000135.4(FANCA):c.2144A>T (p.Glu715Val) rs2039330928
NM_000135.4(FANCA):c.2145A>G (p.Glu715=)
NM_000135.4(FANCA):c.2146C>T (p.His716Tyr)
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
NM_000135.4(FANCA):c.2151+10G>A rs2039329782
NM_000135.4(FANCA):c.2151+11G>T
NM_000135.4(FANCA):c.2151+12G>T
NM_000135.4(FANCA):c.2151+16C>T
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2151+2_2151+3insG rs2039330307
NM_000135.4(FANCA):c.2151+328_2778+1085del
NM_000135.4(FANCA):c.2151+4G>A rs1598113342
NM_000135.4(FANCA):c.2151+4G>C
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2151+7_2151+8delinsTC
NM_000135.4(FANCA):c.2151+7_2151+8inv
NM_000135.4(FANCA):c.2151+8T>G
NM_000135.4(FANCA):c.2151+9del rs1470258609
NM_000135.4(FANCA):c.2151G>A (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2152-12G>A
NM_000135.4(FANCA):c.2152-15A>G
NM_000135.4(FANCA):c.2152-16A>T
NM_000135.4(FANCA):c.2152-19G>A
NM_000135.4(FANCA):c.2152-1G>A
NM_000135.4(FANCA):c.2152-5T>C
NM_000135.4(FANCA):c.2152-6C>T
NM_000135.4(FANCA):c.2152-6_2152-5del
NM_000135.4(FANCA):c.2152-8C>G rs1285658774
NM_000135.4(FANCA):c.2152-8C>T rs1285658774
NM_000135.4(FANCA):c.2160C>T (p.Asp720=) rs2143340191
NM_000135.4(FANCA):c.2162T>G (p.Leu721Arg)
NM_000135.4(FANCA):c.2164C>G (p.Leu722Val) rs770314137
NM_000135.4(FANCA):c.2164C>T (p.Leu722=)
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2169G>A (p.Leu723=)
NM_000135.4(FANCA):c.216G>A (p.Leu72=)
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro) rs2039290343
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2172G>T (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2174C>G (p.Ser725Cys)
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu) rs1163885123
NM_000135.4(FANCA):c.2178C>T (p.Phe726=)
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
NM_000135.4(FANCA):c.2187C>T (p.Asn729=) rs771833978
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro) rs2039289431
NM_000135.4(FANCA):c.218C>T (p.Ser73Phe)
NM_000135.4(FANCA):c.2190G>C (p.Leu730=)
NM_000135.4(FANCA):c.2196T>A (p.Ala732=) rs2143339914
NM_000135.4(FANCA):c.2197G>A (p.Ala733Thr)
NM_000135.4(FANCA):c.21G>A (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.21G>C (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs) rs1394491958
NM_000135.4(FANCA):c.2202C>T (p.Ser734=)
NM_000135.4(FANCA):c.2204G>A (p.Ser735Asn)
NM_000135.4(FANCA):c.2204G>T (p.Ser735Ile)
NM_000135.4(FANCA):c.2205T>C (p.Ser735=) rs2143339774
NM_000135.4(FANCA):c.2208C>T (p.Val736=) rs755638734
NM_000135.4(FANCA):c.2211T>C (p.Ala737=)
NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr) rs751015814
NM_000135.4(FANCA):c.2212C>G (p.Pro738Ala) rs751015814
NM_000135.4(FANCA):c.2213C>A (p.Pro738His) rs762333391
NM_000135.4(FANCA):c.2214C>G (p.Pro738=)
NM_000135.4(FANCA):c.2216C>G (p.Pro739Arg) rs45441106
NM_000135.4(FANCA):c.2217G>A (p.Pro739=)
NM_000135.4(FANCA):c.2217G>C (p.Pro739=) rs764163027
NM_000135.4(FANCA):c.221_222del (p.Leu74fs) rs2041026878
NM_000135.4(FANCA):c.2222+11G>A
NM_000135.4(FANCA):c.2222+11G>C
NM_000135.4(FANCA):c.2222+11G>T
NM_000135.4(FANCA):c.2222+13G>C rs2143339468
NM_000135.4(FANCA):c.2222+14C>A rs368973617
NM_000135.4(FANCA):c.2222+16G>C
NM_000135.4(FANCA):c.2222+16G>T
NM_000135.4(FANCA):c.2222+19C>A
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2222+4A>G
NM_000135.4(FANCA):c.2222+5A>G
NM_000135.4(FANCA):c.2222+5A>T
NM_000135.4(FANCA):c.2222+7dup
NM_000135.4(FANCA):c.2222+9G>A rs774316742
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_000135.4(FANCA):c.2223-13G>T
NM_000135.4(FANCA):c.2223-17C>T
NM_000135.4(FANCA):c.2223-3C>G rs2039278966
NM_000135.4(FANCA):c.2223-3C>T rs2039278966
NM_000135.4(FANCA):c.2223-4G>T
NM_000135.4(FANCA):c.2223-6C>G rs759682612
NM_000135.4(FANCA):c.2223-6_2223-5del
NM_000135.4(FANCA):c.2223-7T>C
NM_000135.4(FANCA):c.2223-8C>G rs1598110961
NM_000135.4(FANCA):c.2223-8C>T rs1598110961
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys) rs1239354393
NM_000135.4(FANCA):c.2227G>A (p.Gly743Ser)
NM_000135.4(FANCA):c.2232C>T (p.Pro744=)
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter) rs1338018512
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr) rs931143821
NM_000135.4(FANCA):c.2242del (p.Leu748fs) rs2143336491
NM_000135.4(FANCA):c.2244C>G (p.Leu748=)
NM_000135.4(FANCA):c.2244del (p.Phe749fs) rs2143336461
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) rs747723074
NM_000135.4(FANCA):c.2248G>C (p.Val750Leu) rs747723074
NM_000135.4(FANCA):c.2250G>C (p.Val750=)
NM_000135.4(FANCA):c.2253G>A (p.Arg751=) rs1345505146
NM_000135.4(FANCA):c.2253dup (p.Thr752fs) rs2143336354
NM_000135.4(FANCA):c.2257A>G (p.Met753Val) rs757797015
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs)
NM_000135.4(FANCA):c.2265dup (p.Arg756fs) rs2143336220
NM_000135.4(FANCA):c.2267G>A (p.Arg756His)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2268T>G (p.Arg756=) rs2143336151
NM_000135.4(FANCA):c.226A>G (p.Lys76Glu) rs2143711335
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
NM_000135.4(FANCA):c.2275C>T (p.Pro759Ser)
NM_000135.4(FANCA):c.2280A>G (p.Ala760=) rs1598110765
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu) rs2039276663
NM_000135.4(FANCA):c.2283G>A (p.Val761=)
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)
NM_000135.4(FANCA):c.2284C>T (p.Leu762Phe)
NM_000135.4(FANCA):c.2285T>C (p.Leu762Pro)
NM_000135.4(FANCA):c.2286C>T (p.Leu762=) rs1419118181
NM_000135.4(FANCA):c.2288C>T (p.Thr763Ile)
NM_000135.4(FANCA):c.2289C>A (p.Thr763=) rs2143335900
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) rs751572448
NM_000135.4(FANCA):c.2293del (p.Leu765fs)
NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter) rs947786901
NM_000135.4(FANCA):c.2301G>A (p.Gln767=)
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe) rs917707717
NM_000135.4(FANCA):c.2307C>A (p.Leu769=) rs1226177820
NM_000135.4(FANCA):c.2307C>T (p.Leu769=)
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.2316+13T>C rs2143335460
NM_000135.4(FANCA):c.2316+16A>G
NM_000135.4(FANCA):c.2316+16A>T rs779657463
NM_000135.4(FANCA):c.2316+17T>A
NM_000135.4(FANCA):c.2316+17T>C
NM_000135.4(FANCA):c.2316+18G>A
NM_000135.4(FANCA):c.2316+1G>T rs2039275333
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2316+6G>T rs1399631313
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2317-10C>T
NM_000135.4(FANCA):c.2317-12T>A
NM_000135.4(FANCA):c.2317-13A>G
NM_000135.4(FANCA):c.2317-17C>A
NM_000135.4(FANCA):c.2317-19A>T
NM_000135.4(FANCA):c.2317-1G>A rs1230207719
NM_000135.4(FANCA):c.2317-1G>T rs1230207719
NM_000135.4(FANCA):c.2317-20C>T
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.2317-4G>A rs775272801
NM_000135.4(FANCA):c.2317-4G>C
NM_000135.4(FANCA):c.2318G>A (p.Gly773Asp) rs2143333930
NM_000135.4(FANCA):c.231G>A (p.Val77=)
NM_000135.4(FANCA):c.2320C>T (p.Pro774Ser)
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr) rs2039267533
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg) rs545765795
NM_000135.4(FANCA):c.2325C>T (p.Ser775=) rs545765795
NM_000135.4(FANCA):c.2327dup (p.Ser777fs) rs2039267300
NM_000135.4(FANCA):c.2331T>C (p.Ser777=) rs2143333727
NM_000135.4(FANCA):c.2332G>A (p.Ala778Thr) rs1242381795
NM_000135.4(FANCA):c.2334C>T (p.Ala778=) rs1308389715
NM_000135.4(FANCA):c.2337A>G (p.Pro779=)
NM_000135.4(FANCA):c.233_236del (p.Ile78fs) rs2041026343
NM_000135.4(FANCA):c.2341G>A (p.Val781Met) rs1246628258
NM_000135.4(FANCA):c.2341G>T (p.Val781Leu) rs1246628258
NM_000135.4(FANCA):c.2343G>T (p.Val781=)
NM_000135.4(FANCA):c.2345T>G (p.Leu782Arg) rs747315724
NM_000135.4(FANCA):c.2346G>T (p.Leu782=)
NM_000135.4(FANCA):c.2349G>C (p.Gly783=)
NM_000135.4(FANCA):c.234T>C (p.Ile78=) rs2143711235
NM_000135.4(FANCA):c.2351dup (p.Leu784fs) rs2039266434
NM_000135.4(FANCA):c.2356G>T (p.Ala786Ser)
NM_000135.4(FANCA):c.2361G>C (p.Leu787=) rs2143333278
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro) rs1036897594
NM_000135.4(FANCA):c.2364C>A (p.Ala788=) rs149754397
NM_000135.4(FANCA):c.2365G>A (p.Val789Met) rs771698195
NM_000135.4(FANCA):c.2368C>G (p.His790Asp) rs2039266002
NM_000135.4(FANCA):c.2368C>T (p.His790Tyr)
NM_000135.4(FANCA):c.2368del (p.His790fs) rs2143333169
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.2370C>T (p.His790=) rs753818673
NM_000135.4(FANCA):c.2371C>G (p.Leu791Val)
NM_000135.4(FANCA):c.2382C>T (p.Ser794=) rs1223394099
NM_000135.4(FANCA):c.2383A>C (p.Arg795=) rs767455904
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2391G>T (p.Ala797=)
NM_000135.4(FANCA):c.2395C>G (p.Pro799Ala) rs762439008
NM_000135.4(FANCA):c.2397A>G (p.Pro799=) rs2143332878
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly) rs2039264657
NM_000135.4(FANCA):c.2399A>T (p.Glu800Val) rs2039264657
NM_000135.4(FANCA):c.239G>A (p.Cys80Tyr) rs1043175440
NM_000135.4(FANCA):c.23A>T (p.Asn8Ile) rs757468756
NM_000135.4(FANCA):c.2402T>A (p.Val801Glu) rs772721300
NM_000135.4(FANCA):c.2403G>C (p.Val801=) rs969366978
NM_000135.4(FANCA):c.2403G>T (p.Val801=)
NM_000135.4(FANCA):c.2406T>C (p.Asp802=) rs2143332765
NM_000135.4(FANCA):c.2409G>C (p.Val803=) rs1598110129
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2414C>T (p.Pro805Leu) rs1303230442
NM_000135.4(FANCA):c.2416C>T (p.Pro806Ser)
NM_000135.4(FANCA):c.2422C>G (p.Pro808Ala) rs772367440
NM_000135.4(FANCA):c.2424T>A (p.Pro808=)
NM_000135.4(FANCA):c.2424T>C (p.Pro808=)
NM_000135.4(FANCA):c.2426G>T (p.Gly809Val)
NM_000135.4(FANCA):c.2426_2427inv (p.Gly809Asp)
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
NM_000135.4(FANCA):c.2428G>T (p.Ala810Ser) rs1263882781
NM_000135.4(FANCA):c.2429C>G (p.Ala810Gly) rs1486995764
NM_000135.4(FANCA):c.2430T>A (p.Ala810=)
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
NM_000135.4(FANCA):c.2439T>G (p.Pro813=) rs2143332287
NM_000135.4(FANCA):c.243C>T (p.Asp81=)
NM_000135.4(FANCA):c.2442C>T (p.Val814=)
NM_000135.4(FANCA):c.2443C>T (p.Pro815Ser)
NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg) rs778009295
NM_000135.4(FANCA):c.2444C>T (p.Pro815Leu)
NM_000135.4(FANCA):c.2445T>C (p.Pro815=) rs1489533103
NM_000135.4(FANCA):c.2447C>A (p.Ala816Glu)
NM_000135.4(FANCA):c.2449C>G (p.Leu817Val)
NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro) rs1307805145
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
NM_000135.4(FANCA):c.2454T>C (p.Phe818=) rs2143332088
NM_000135.4(FANCA):c.2455G>C (p.Asp819His)
NM_000135.4(FANCA):c.2457C>T (p.Asp819=) rs1216645940
NM_000135.4(FANCA):c.245G>A (p.Ser82Asn)
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr) rs1459045387
NM_000135.4(FANCA):c.2463C>G (p.Leu821=) rs781019889
NM_000135.4(FANCA):c.2463C>T (p.Leu821=)
NM_000135.4(FANCA):c.2464C>T (p.Leu822=)
NM_000135.4(FANCA):c.2466G>A (p.Leu822=)
NM_000135.4(FANCA):c.2466G>T (p.Leu822=) rs2143331866
NM_000135.4(FANCA):c.2469C>A (p.Thr823=)
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter) rs2039261844
NM_000135.4(FANCA):c.2472T>C (p.Cys824=) rs2039261844
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met) rs765888048
NM_000135.4(FANCA):c.2482dup (p.Asp828fs) rs2143331597
NM_000135.4(FANCA):c.2484T>C (p.Asp828=)
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter) rs772477788
NM_000135.4(FANCA):c.2490G>T (p.Leu830Phe) rs2039261142
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2496C>T (p.Phe832=) rs2039260982
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.24C>A (p.Asn8Lys)
NM_000135.4(FANCA):c.24C>T (p.Asn8=) rs76275444
NM_000135.4(FANCA):c.24_25delinsGG (p.Asn8_Ser9delinsLysAla)
NM_000135.4(FANCA):c.2502G>T (p.Leu834=) rs770993950
NM_000135.4(FANCA):c.2504+10T>C rs770043372
NM_000135.4(FANCA):c.2504+11C>T
NM_000135.4(FANCA):c.2504+11_2504+12insCA
NM_000135.4(FANCA):c.2504+12_2504+14del rs1023581563
NM_000135.4(FANCA):c.2504+134A>G rs2039254077
NM_000135.4(FANCA):c.2504+16A>C
NM_000135.4(FANCA):c.2504+16A>G
NM_000135.4(FANCA):c.2504+17C>T
NM_000135.4(FANCA):c.2504+18del
NM_000135.4(FANCA):c.2504+1G>A rs2039260545
NM_000135.4(FANCA):c.2504+1G>C rs2039260545
NM_000135.4(FANCA):c.2504+2T>C rs2039260502
NM_000135.4(FANCA):c.2504+3G>A rs2039260426
NM_000135.4(FANCA):c.2504+5G>T rs2039260372
NM_000135.4(FANCA):c.2504+7T>C rs1212871121
NM_000135.4(FANCA):c.2504+8C>A rs529177917
NM_000135.4(FANCA):c.2505-10C>G rs1271668667
NM_000135.4(FANCA):c.2505-10_2505-9del rs766900188
NM_000135.4(FANCA):c.2505-12T>G
NM_000135.4(FANCA):c.2505-15A>T
NM_000135.4(FANCA):c.2505-15_2505-13del rs1420343115
NM_000135.4(FANCA):c.2505-17A>G
NM_000135.4(FANCA):c.2505-1G>C rs1438990537
NM_000135.4(FANCA):c.2505-2A>C
NM_000135.4(FANCA):c.2505-30_2505-10del rs1598106124
NM_000135.4(FANCA):c.2505-4T>C
NM_000135.4(FANCA):c.2505-4del
NM_000135.4(FANCA):c.2505-5T>C rs768436599
NM_000135.4(FANCA):c.2505-8G>A rs2143308956
NM_000135.4(FANCA):c.2505-8G>C rs2143308956
NM_000135.4(FANCA):c.2505-8G>T rs2143308956
NM_000135.4(FANCA):c.2505A>G (p.Lys835=) rs1555546563
NM_000135.4(FANCA):c.2508T>C (p.Phe836=)
NM_000135.4(FANCA):c.2509_2604del (p.Cys837_Phe868del) rs2143307773
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg) rs1216922486
NM_000135.4(FANCA):c.2514A>G (p.Thr838=)
NM_000135.4(FANCA):c.2516C>G (p.Ala839Gly)
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2521A>G (p.Ile841Val)
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2525C>G (p.Ser842Cys)
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp) rs374030577
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys) rs1567616244
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529C>T (p.Tyr843=) rs1247378731
NM_000135.4(FANCA):c.2531C>G (p.Ser844Cys)
NM_000135.4(FANCA):c.2532T>C (p.Ser844=) rs778591541
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs) rs763378933
NM_000135.4(FANCA):c.2535C>G (p.Leu845=)
NM_000135.4(FANCA):c.2535C>T (p.Leu845=) rs1362752790
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.253G>A (p.Ala85Thr) rs2143711037
NM_000135.4(FANCA):c.2540A>C (p.Lys847Thr)
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2549C>A (p.Ser850Tyr)
NM_000135.4(FANCA):c.254C>G (p.Ala85Gly)
NM_000135.4(FANCA):c.2550C>T (p.Ser850=) rs755395838
NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter) rs1406289451
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) rs761469030
NM_000135.4(FANCA):c.2558G>A (p.Arg853Gln) rs753393669
NM_000135.4(FANCA):c.2559_2564del (p.Asp854_Thr855del) rs2143308232
NM_000135.4(FANCA):c.255C>A (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.255C>G (p.Ala85=)
NM_000135.4(FANCA):c.255C>T (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.2562T>C (p.Asp854=)
NM_000135.4(FANCA):c.2563dup (p.Thr855fs)
NM_000135.4(FANCA):c.2564del (p.Thr855fs) rs2143308216
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
NM_000135.4(FANCA):c.2571C>T (p.Cys857=)
NM_000135.4(FANCA):c.257A>G (p.Tyr86Cys)
NM_000135.4(FANCA):c.2580A>G (p.Leu860=) rs1852141936
NM_000135.4(FANCA):c.2584C>G (p.Pro862Ala)
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser) rs2039157272
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
NM_000135.4(FANCA):c.259G>C (p.Ala87Pro)
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu) rs2143731757
NM_000135.4(FANCA):c.2600del (p.Lys867fs) rs2039156731
NM_000135.4(FANCA):c.2601+12C>G
NM_000135.4(FANCA):c.2601+12_2601+13del
NM_000135.4(FANCA):c.2601+15T>A
NM_000135.4(FANCA):c.2601+15_2601+16del
NM_000135.4(FANCA):c.2601+18C>G
NM_000135.4(FANCA):c.2601+18C>T rs748995903
NM_000135.4(FANCA):c.2601+20A>G
NM_000135.4(FANCA):c.2601+5G>T
NM_000135.4(FANCA):c.2601+8C>A
NM_000135.4(FANCA):c.2601+8C>T rs775561931
NM_000135.4(FANCA):c.2601+9A>T rs771837383
NM_000135.4(FANCA):c.2601G>A (p.Lys867=) rs746889340
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2602-11C>G
NM_000135.4(FANCA):c.2602-11C>T
NM_000135.4(FANCA):c.2602-12T>A
NM_000135.4(FANCA):c.2602-12T>C
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2602-17G>A
NM_000135.4(FANCA):c.2602-17G>C
NM_000135.4(FANCA):c.2602-18G>C rs774316884
NM_000135.4(FANCA):c.2602-19G>A rs17233225
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2602-1G>A rs747823528
NM_000135.4(FANCA):c.2602-1G>T rs747823528
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2602-2A>G rs1555545592
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2602-3C>G rs2143289922
NM_000135.4(FANCA):c.2602-4T>C
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.4(FANCA):c.2613C>A (p.Leu871=) rs532032511
NM_000135.4(FANCA):c.2613C>G (p.Leu871=)
NM_000135.4(FANCA):c.2614A>G (p.Met872Val)
NM_000135.4(FANCA):c.261T>C (p.Ala87=)
NM_000135.4(FANCA):c.2620A>G (p.Arg874Gly)
NM_000135.4(FANCA):c.2625G>A (p.Leu875=)
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
NM_000135.4(FANCA):c.2628C>G (p.Phe876Leu)
NM_000135.4(FANCA):c.2629T>A (p.Ser877Thr)
NM_000135.4(FANCA):c.2629T>C (p.Ser877Pro) rs1322274178
NM_000135.4(FANCA):c.262A>T (p.Asn88Tyr) rs913466405
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2632G>A (p.Glu878Lys)
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000135.4(FANCA):c.2634G>A (p.Glu878=) rs2143289424
NM_000135.4(FANCA):c.2636C>T (p.Ala879Val) rs375919830
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) rs762804216
NM_000135.4(FANCA):c.2639G>T (p.Arg880Leu)
NM_000135.4(FANCA):c.2640A>T (p.Arg880=)
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2644C>A (p.Pro882Thr)
NM_000135.4(FANCA):c.2644C>T (p.Pro882Ser) rs1938055960
NM_000135.4(FANCA):c.2647C>G (p.Leu883Val)
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.4(FANCA):c.2650T>C (p.Ser884Pro)
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
NM_000135.4(FANCA):c.2652T>G (p.Ser884=)
NM_000135.4(FANCA):c.2655G>A (p.Glu885=)
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter) rs1487360770
NM_000135.4(FANCA):c.2658G>A (p.Glu886=)
NM_000135.4(FANCA):c.2660A>G (p.Asp887Gly) rs1222220230
NM_000135.4(FANCA):c.2662G>C (p.Val888Leu) rs774863156
NM_000135.4(FANCA):c.2664A>T (p.Val888=)
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile) rs1055448646
NM_000135.4(FANCA):c.2670C>T (p.Ser890=) rs1419813684
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)
NM_000135.4(FANCA):c.2674T>A (p.Ser892Thr)
NM_000135.4(FANCA):c.2674del (p.Ser892fs) rs2039077507
NM_000135.4(FANCA):c.2676C>A (p.Ser892=) rs756478412
NM_000135.4(FANCA):c.2676C>G (p.Ser892=) rs756478412
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter) rs2039077331
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter) rs2143288874
NM_000135.4(FANCA):c.2683C>G (p.Pro895Ala) rs755207440
NM_000135.4(FANCA):c.2684C>A (p.Pro895His) rs1234246540
NM_000135.4(FANCA):c.2687T>G (p.Leu896Trp) rs2143288811
NM_000135.4(FANCA):c.2688G>A (p.Leu896=) rs142393744
NM_000135.4(FANCA):c.2688G>T (p.Leu896Phe) rs142393744
NM_000135.4(FANCA):c.2689C>T (p.His897Tyr) rs766402927
NM_000135.4(FANCA):c.2692C>G (p.Leu898Val)
NM_000135.4(FANCA):c.269C>G (p.Ser90Cys)
NM_000135.4(FANCA):c.26C>A (p.Ser9Tyr) rs752776388
NM_000135.4(FANCA):c.26C>G (p.Ser9Cys) rs752776388
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe) rs752776388
NM_000135.4(FANCA):c.2700T>C (p.Ser900=) rs755783870
NM_000135.4(FANCA):c.2703A>G (p.Ala901=) rs2143288685
NM_000135.4(FANCA):c.2707dup (p.Trp903fs) rs1225564406
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter) rs1354272260
NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)
NM_000135.4(FANCA):c.270T>C (p.Ser90=) rs1322323561
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter) rs2039076227
NM_000135.4(FANCA):c.2711A>G (p.Gln904Arg) rs776576487
NM_000135.4(FANCA):c.2712G>C (p.Gln904His)
NM_000135.4(FANCA):c.2717del (p.Ala906fs) rs2143288542
NM_000135.4(FANCA):c.2720C>T (p.Ala907Val)
NM_000135.4(FANCA):c.2721C>G (p.Ala907=) rs775013707
NM_000135.4(FANCA):c.2721C>T (p.Ala907=)
NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro) rs2039075542
NM_000135.4(FANCA):c.2727T>C (p.Ser909=)
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile) rs1216426444
NM_000135.4(FANCA):c.2728C>G (p.Leu910Val) rs1216426444
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) rs1216426444
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)
NM_000135.4(FANCA):c.2730C>G (p.Leu910=)
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro) rs1220495259
NM_000135.4(FANCA):c.2735C>A (p.Thr912Lys) rs376302719
NM_000135.4(FANCA):c.2736A>C (p.Thr912=)
NM_000135.4(FANCA):c.2736dup (p.His913fs) rs2039074823
NM_000135.4(FANCA):c.2739_2740del (p.His913fs) rs1186669727
NM_000135.4(FANCA):c.2741G>T (p.Arg914Ile)
NM_000135.4(FANCA):c.2745C>A (p.Thr915=) rs781543214
NM_000135.4(FANCA):c.2745C>T (p.Thr915=) rs781543214
NM_000135.4(FANCA):c.2749C>A (p.Arg917=)
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2752G>C (p.Glu918Gln)
NM_000135.4(FANCA):c.2755G>A (p.Val919Met) rs150330232
NM_000135.4(FANCA):c.2756T>C (p.Val919Ala) rs202131468
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.275C>T (p.Ser92Leu)
NM_000135.4(FANCA):c.2760G>C (p.Leu920Phe)
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile) rs879255255
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2765A>C (p.Glu922Ala) rs899634878
NM_000135.4(FANCA):c.2768A>T (p.Glu923Val)
NM_000135.4(FANCA):c.2778+11G>A rs1211560919
NM_000135.4(FANCA):c.2778+11G>T rs1211560919
NM_000135.4(FANCA):c.2778+13T>G
NM_000135.4(FANCA):c.2778+19_2778+101del rs1567614267
NM_000135.4(FANCA):c.2778+1G>C rs140180549
NM_000135.4(FANCA):c.2778+1G>T rs140180549
NM_000135.4(FANCA):c.2778+20_2778+22del rs778787539
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+3A>G rs757261567
NM_000135.4(FANCA):c.2778+51_2778+133del rs2143286378
NM_000135.4(FANCA):c.2778+7_2778+36del rs1253945933
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2778+9C>T rs2143287939
NM_000135.4(FANCA):c.2778C>T (p.His926=)
NM_000135.4(FANCA):c.2779-10T>C rs1434480162
NM_000135.4(FANCA):c.2779-11C>T rs185392597
NM_000135.4(FANCA):c.2779-12T>C
NM_000135.4(FANCA):c.2779-13CT[2] rs1567612434
NM_000135.4(FANCA):c.2779-14G>C
NM_000135.4(FANCA):c.2779-14G>T
NM_000135.4(FANCA):c.2779-16T>A
NM_000135.4(FANCA):c.2779-16_2779-15delinsCG
NM_000135.4(FANCA):c.2779-18G>A
NM_000135.4(FANCA):c.2779-18G>C
NM_000135.4(FANCA):c.2779-19T>C
NM_000135.4(FANCA):c.2779-1G>T rs2143261385
NM_000135.4(FANCA):c.2779-20T>C rs758046281
NM_000135.4(FANCA):c.2779-20T>G
NM_000135.4(FANCA):c.2779-3C>T
NM_000135.4(FANCA):c.2779-5C>G rs753286882
NM_000135.4(FANCA):c.2779-8T>C
NM_000135.4(FANCA):c.2779-9C>T rs764825402
NM_000135.4(FANCA):c.2783C>A (p.Thr928Asn) rs2143261377
NM_000135.4(FANCA):c.2784T>G (p.Thr928=)
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His) rs1567612427
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser) rs2038969615
NM_000135.4(FANCA):c.2791G>C (p.Asp931His)
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg) rs2038969261
NM_000135.4(FANCA):c.2797T>C (p.Leu933=) rs961319091
NM_000135.4(FANCA):c.279del (p.Phe93fs)
NM_000135.4(FANCA):c.27C>A (p.Ser9=)
NM_000135.4(FANCA):c.2803C>T (p.Leu935=) rs1598096992
NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys) rs2038968872
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) rs766643461
NM_000135.4(FANCA):c.2809C>G (p.Leu937Val)
NM_000135.4(FANCA):c.2809C>T (p.Leu937=) rs773381553
NM_000135.4(FANCA):c.280A>G (p.Ile94Val)
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln) rs376106733
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val) rs1598096962
NM_000135.4(FANCA):c.2820A>C (p.Gln940His)
NM_000135.4(FANCA):c.2821C>A (p.Pro941Thr) rs2038968162
NM_000135.4(FANCA):c.2822C>A (p.Pro941His)
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp) rs1217883878
NM_000135.4(FANCA):c.2827_2845dup (p.Thr949delinsSerTer) rs2038967521
NM_000135.4(FANCA):c.2828C>T (p.Ala943Val)
NM_000135.4(FANCA):c.283+10A>C
NM_000135.4(FANCA):c.283+12C>A
NM_000135.4(FANCA):c.283+12C>G rs2143710577
NM_000135.4(FANCA):c.283+15C>A
NM_000135.4(FANCA):c.283+15C>T
NM_000135.4(FANCA):c.283+16A>G
NM_000135.4(FANCA):c.283+1G>A rs1232171121
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+1_283+11del rs2143710613
NM_000135.4(FANCA):c.283+1del rs2041024132
NM_000135.4(FANCA):c.283+2T>C
NM_000135.4(FANCA):c.283+2T>G
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.283+5G>A rs1598199184
NM_000135.4(FANCA):c.283+8A>G
NM_000135.4(FANCA):c.283+9T>A rs779593295
NM_000135.4(FANCA):c.283+9T>G rs779593295
NM_000135.4(FANCA):c.2830G>A (p.Asp944Asn)
NM_000135.4(FANCA):c.2830G>T (p.Asp944Tyr)
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs)
NM_000135.4(FANCA):c.2832dup (p.Ala945fs) rs2143260759
NM_000135.4(FANCA):c.2834C>T (p.Ala945Val) rs1221107443
NM_000135.4(FANCA):c.2836C>G (p.Leu946Val)
NM_000135.4(FANCA):c.2836C>T (p.Leu946Phe)
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.284-10T>C rs1318685482
NM_000135.4(FANCA):c.284-11T>C
NM_000135.4(FANCA):c.284-1328_705del
NM_000135.4(FANCA):c.284-13T>C
NM_000135.4(FANCA):c.284-14G>T rs757531036
NM_000135.4(FANCA):c.284-15T>C
NM_000135.4(FANCA):c.284-19G>A
NM_000135.4(FANCA):c.284-19G>C
NM_000135.4(FANCA):c.284-1G>C rs781216924
NM_000135.4(FANCA):c.284-20G>T
NM_000135.4(FANCA):c.284-2A>C
NM_000135.4(FANCA):c.284-7G>A rs2143681344
NM_000135.4(FANCA):c.284-8T>C rs2143681363
NM_000135.4(FANCA):c.284-940_339del
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2841A>T (p.Ser947=) rs1555544202
NM_000135.4(FANCA):c.2843A>C (p.Asp948Ala)
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val) rs193172749
NM_000135.4(FANCA):c.2844T>C (p.Asp948=) rs2143260585
NM_000135.4(FANCA):c.2846C>T (p.Thr949Ile) rs2038967398
NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter) rs2038967261
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+10G>C rs2143260317
NM_000135.4(FANCA):c.2852+12A>T rs2038966561
NM_000135.4(FANCA):c.2852+17G>C
NM_000135.4(FANCA):c.2852+18C>G
NM_000135.4(FANCA):c.2852+1del
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2852+2T>G rs766875860
NM_000135.4(FANCA):c.2852+3A>G rs2038966938
NM_000135.4(FANCA):c.2852+7G>A
NM_000135.4(FANCA):c.2852+7_2852+8del
NM_000135.4(FANCA):c.2853-10G>C rs1432760258
NM_000135.4(FANCA):c.2853-11T>C
NM_000135.4(FANCA):c.2853-14G>A
NM_000135.4(FANCA):c.2853-15T>C rs1252724124
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-16G>A
NM_000135.4(FANCA):c.2853-4C>A rs1289126600
NM_000135.4(FANCA):c.2853-4C>T rs1289126600
NM_000135.4(FANCA):c.2853-7G>A
NM_000135.4(FANCA):c.2853-8T>C rs2038845082
NM_000135.4(FANCA):c.2853-9C>G
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter) rs2038844790
NM_000135.4(FANCA):c.2855A>C (p.Gln952Pro) rs2143225876
NM_000135.4(FANCA):c.2858A>C (p.Asp953Ala)
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2859C>T (p.Asp953=) rs149112292
NM_000135.4(FANCA):c.285_522+1del rs2040843894
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu) rs2038844439
NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter) rs2038844292
NM_000135.4(FANCA):c.2868G>A (p.Gln956=)
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.2872del (p.Ala958fs) rs2038844082
NM_000135.4(FANCA):c.2874G>C (p.Ala958=)
NM_000135.4(FANCA):c.2877C>A (p.Ile959=) rs369548782
NM_000135.4(FANCA):c.2877C>G (p.Ile959Met)
NM_000135.4(FANCA):c.2877C>T (p.Ile959=)
NM_000135.4(FANCA):c.2878C>G (p.His960Asp)
NM_000135.4(FANCA):c.2878C>T (p.His960Tyr) rs923046981
NM_000135.4(FANCA):c.2880T>A (p.His960Gln) rs2038843708
NM_000135.4(FANCA):c.2882A>C (p.Glu961Ala)
NM_000135.4(FANCA):c.2885A>T (p.His962Leu)
NM_000135.4(FANCA):c.2885_2888dup (p.Phe963fs)
NM_000135.4(FANCA):c.2886C>T (p.His962=) rs1455455628
NM_000135.4(FANCA):c.2889T>C (p.Phe963=)
NM_000135.4(FANCA):c.2892C>A (p.Leu964=) rs2143225154
NM_000135.4(FANCA):c.2892C>T (p.Leu964=) rs2143225154
NM_000135.4(FANCA):c.2893C>G (p.Pro965Ala)
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs)
NM_000135.4(FANCA):c.2895T>C (p.Pro965=)
NM_000135.4(FANCA):c.2896G>A (p.Glu966Lys) rs1192724266
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter) rs1192724266
NM_000135.4(FANCA):c.2901C>G (p.Ser967=)
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2904G>C (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2908T>C (p.Ser970Pro)
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2912G>C (p.Gly971Ala)
NM_000135.4(FANCA):c.2914G>A (p.Gly972Ser) rs764155334
NM_000135.4(FANCA):c.2914G>T (p.Gly972Cys)
NM_000135.4(FANCA):c.2915del (p.Gly972fs)
NM_000135.4(FANCA):c.291_295del (p.Leu98fs)
NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu) rs756241886
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs)
NM_000135.4(FANCA):c.2928C>T (p.Asp976=) rs1389873954
NM_000135.4(FANCA):c.2929C>T (p.Leu977=)
NM_000135.4(FANCA):c.2931G>A (p.Leu977=)
NM_000135.4(FANCA):c.2931G>T (p.Leu977=)
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
NM_000135.4(FANCA):c.2936C>G (p.Ala979Gly)
NM_000135.4(FANCA):c.2938G>C (p.Ala980Pro) rs2038841366
NM_000135.4(FANCA):c.2942G>C (p.Cys981Ser) rs1555542910
NM_000135.4(FANCA):c.2945C>G (p.Thr982Ser) rs772577909
NM_000135.4(FANCA):c.2946C>A (p.Thr982=)
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer) rs1598191053
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser) rs752735858
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2960C>T (p.Ala987Val)
NM_000135.4(FANCA):c.2962C>T (p.Leu988=) rs2143224238
NM_000135.4(FANCA):c.2964G>A (p.Leu988=) rs751495133
NM_000135.4(FANCA):c.2970T>C (p.Asp990=) rs2143224147
NM_000135.4(FANCA):c.2976C>G (p.His992Gln) rs527882851
NM_000135.4(FANCA):c.2976C>T (p.His992=)
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)
NM_000135.4(FANCA):c.2981+11C>T
NM_000135.4(FANCA):c.2981+13C>T
NM_000135.4(FANCA):c.2981+14A>G
NM_000135.4(FANCA):c.2981+15C>G
NM_000135.4(FANCA):c.2981+18T>C
NM_000135.4(FANCA):c.2981+19A>G
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2981+3T>A
NM_000135.4(FANCA):c.2981+3T>C rs2038838887
NM_000135.4(FANCA):c.2981+8G>A
NM_000135.4(FANCA):c.2981+8G>C
NM_000135.4(FANCA):c.2981+8_2981+10del
NM_000135.4(FANCA):c.2981+9C>A rs2143223878
NM_000135.4(FANCA):c.2981+9C>G
NM_000135.4(FANCA):c.2981+9C>T
NM_000135.4(FANCA):c.2982-15G>T rs55718325
NM_000135.4(FANCA):c.2982-192A>C
NM_000135.4(FANCA):c.2982-192A>G rs2038628210
NM_000135.4(FANCA):c.2982-19T>C
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2982-8C>T
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
NM_000135.4(FANCA):c.2985A>G (p.Ser995=) rs1598081370
NM_000135.4(FANCA):c.2985A>T (p.Ser995=) rs1598081370
NM_000135.4(FANCA):c.2989A>T (p.Ser997Cys) rs2038619848
NM_000135.4(FANCA):c.298G>C (p.Asp100His)
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) rs1555540048
NM_000135.4(FANCA):c.2991T>C (p.Ser997=)
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
NM_000135.4(FANCA):c.2995G>C (p.Asp999His) rs1277218406
NM_000135.4(FANCA):c.2996A>G (p.Asp999Gly) rs2143164062
NM_000135.4(FANCA):c.2997C>T (p.Asp999=) rs1393198725
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.2T>G (p.Met1Arg) rs769479800
NM_000135.4(FANCA):c.3003A>T (p.Ser1001=) rs2038619241
NM_000135.4(FANCA):c.3009T>C (p.Asn1003=) rs1001303157
NM_000135.4(FANCA):c.3012T>A (p.Ser1004=)
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter) rs2038618125
NM_000135.4(FANCA):c.3018G>T (p.Leu1006Phe) rs1439833580
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs) rs2143163813
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)
NM_000135.4(FANCA):c.3021C>A (p.Val1007=) rs2143163779
NM_000135.4(FANCA):c.3021C>G (p.Val1007=)
NM_000135.4(FANCA):c.3021_3027del (p.Phe1008fs) rs2038617702
NM_000135.4(FANCA):c.3026G>T (p.Gly1009Val)
NM_000135.4(FANCA):c.3027T>G (p.Gly1009=) rs2143163711
NM_000135.4(FANCA):c.3029G>T (p.Gly1010Val) rs767105291
NM_000135.4(FANCA):c.3036A>C (p.Thr1012=)
NM_000135.4(FANCA):c.3036A>G (p.Thr1012=) rs2038617235
NM_000135.4(FANCA):c.3043G>A (p.Glu1015Lys) rs1443921504
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
NM_000135.4(FANCA):c.3045G>C (p.Glu1015Asp) rs147661788
NM_000135.4(FANCA):c.3046G>A (p.Asp1016Asn)
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
NM_000135.4(FANCA):c.3056C>A (p.Ser1019Tyr) rs762111755
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys) rs762111755
NM_000135.4(FANCA):c.3057C>A (p.Ser1019=)
NM_000135.4(FANCA):c.3057C>T (p.Ser1019=)
NM_000135.4(FANCA):c.3058A>C (p.Arg1020=)
NM_000135.4(FANCA):c.3059G>C (p.Arg1020Thr) rs777061373
NM_000135.4(FANCA):c.3061T>C (p.Leu1021=) rs2143163305
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp) rs891626452
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter) rs2143163267
NM_000135.4(FANCA):c.3066+10A>T rs2143163210
NM_000135.4(FANCA):c.3066+11G>A
NM_000135.4(FANCA):c.3066+12G>A
NM_000135.4(FANCA):c.3066+13_3066+75del
NM_000135.4(FANCA):c.3066+17C>T
NM_000135.4(FANCA):c.3066+19C>G
NM_000135.4(FANCA):c.3066+19C>T
NM_000135.4(FANCA):c.3066+1G>A rs587783028
NM_000135.4(FANCA):c.3066+1G>C
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3066+3_3066+9delinsCC rs2038616017
NM_000135.4(FANCA):c.3066G>C (p.Gln1022His)
NM_000135.4(FANCA):c.3067-10T>A
NM_000135.4(FANCA):c.3067-10T>C rs1379021525
NM_000135.4(FANCA):c.3067-14C>G rs1227291634
NM_000135.4(FANCA):c.3067-15A>G
NM_000135.4(FANCA):c.3067-17A>G rs1598077091
NM_000135.4(FANCA):c.3067-1G>A rs2038522097
NM_000135.4(FANCA):c.3067-20A>T
NM_000135.4(FANCA):c.3067-2A>G rs2143140176
NM_000135.4(FANCA):c.3067-3C>T
NM_000135.4(FANCA):c.3067-8T>C
NM_000135.4(FANCA):c.3067-9C>G rs1271317902
NM_000135.4(FANCA):c.3068A>G (p.Glu1023Gly)
NM_000135.4(FANCA):c.306C>G (p.Ala102=)
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000135.4(FANCA):c.3073G>T (p.Val1025Leu)
NM_000135.4(FANCA):c.3075A>G (p.Val1025=) rs780769017
NM_000135.4(FANCA):c.3075A>T (p.Val1025=) rs780769017
NM_000135.4(FANCA):c.3081C>T (p.Asp1027=) rs751033993
NM_000135.4(FANCA):c.3082C>T (p.Leu1028=) rs1447648920
NM_000135.4(FANCA):c.3084G>A (p.Leu1028=) rs2038521694
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) rs147176389
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter) rs1270910813
NM_000135.4(FANCA):c.3091del (p.Gln1031fs) rs2143139861
NM_000135.4(FANCA):c.3096A>G (p.Gln1032=) rs764351074
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
NM_000135.4(FANCA):c.3099C>T (p.Asp1033=) rs139289675
NM_000135.4(FANCA):c.309A>C (p.Ser103=) rs1284727333
NM_000135.4(FANCA):c.3100C>G (p.Leu1034Val)
NM_000135.4(FANCA):c.3102C>T (p.Leu1034=) rs1216824664
NM_000135.4(FANCA):c.3109C>G (p.Pro1037Ala) rs771174892
NM_000135.4(FANCA):c.310A>C (p.Arg104=) rs2143680951
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs) rs2143139284
NM_000135.4(FANCA):c.3116G>A (p.Gly1039Asp) rs1292002479
NM_000135.4(FANCA):c.3116del (p.Gly1039fs)
NM_000135.4(FANCA):c.3117C>G (p.Gly1039=) rs2143139529
NM_000135.4(FANCA):c.311G>A (p.Arg104Lys) rs1057245679
NM_000135.4(FANCA):c.3120C>T (p.His1040=) rs1567603921
NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser) rs769635187
NM_000135.4(FANCA):c.3123C>G (p.Thr1041=) rs978882053
NM_000135.4(FANCA):c.3123C>T (p.Thr1041=)
NM_000135.4(FANCA):c.3124C>T (p.Pro1042Ser) rs1355177352
NM_000135.4(FANCA):c.3126T>A (p.Pro1042=)
NM_000135.4(FANCA):c.3126T>G (p.Pro1042=) rs2038519967
NM_000135.4(FANCA):c.3128C>T (p.Ser1043Phe) rs964766722
NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter) rs1172710952
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter) rs2038519770
NM_000135.4(FANCA):c.3134A>C (p.Glu1045Ala) rs2143139368
NM_000135.4(FANCA):c.3135G>A (p.Glu1045=)
NM_000135.4(FANCA):c.313C>T (p.Leu105=)
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del) rs2038519209
NM_000135.4(FANCA):c.3142C>G (p.Leu1048Val) rs2143139226
NM_000135.4(FANCA):c.3142_3147del (p.Leu1048_Phe1049del) rs2143139177
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3144C>G (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala) rs954683462
NM_000135.4(FANCA):c.3150G>A (p.Glu1050=) rs2143139115
NM_000135.4(FANCA):c.3150G>C (p.Glu1050Asp) rs2143139115
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs) rs2143139061
NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser)
NM_000135.4(FANCA):c.3156C>T (p.Phe1052=) rs373305027
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His) rs371351450
NM_000135.4(FANCA):c.3160A>C (p.Arg1054=)
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs) rs2143138748
NM_000135.4(FANCA):c.3163C>A (p.Arg1055=) rs753063086
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly) rs753063086
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3164_3179del (p.Arg1055fs)
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer) rs2038517512
NM_000135.4(FANCA):c.3168C>G (p.Leu1056=) rs377633991
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter) rs373545111
NM_000135.4(FANCA):c.3169del (p.Gln1057fs) rs2143138814
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val) rs964650941
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs)
NM_000135.4(FANCA):c.3177G>C (p.Leu1059=) rs2143138665
NM_000135.4(FANCA):c.3177G>T (p.Leu1059=) rs2143138665
NM_000135.4(FANCA):c.3180A>T (p.Thr1060=)
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg) rs142379991
NM_000135.4(FANCA):c.3184_3186delinsTGCC (p.Gly1062fs) rs2143138507
NM_000135.4(FANCA):c.3186G>T (p.Gly1062=) rs2038517320
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs)
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3188G>C (p.Trp1063Ser) rs1166286386
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3189G>T (p.Trp1063Cys)
NM_000135.4(FANCA):c.318G>A (p.Gly106=)
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly) rs1014152202
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu) rs140124051
NM_000135.4(FANCA):c.3195G>A (p.Val1065=) rs2143138336
NM_000135.4(FANCA):c.3195G>C (p.Val1065=)
NM_000135.4(FANCA):c.3197C>G (p.Ala1066Gly) rs1419279017
NM_000135.4(FANCA):c.319del (p.Val107fs) rs1411237340
NM_000135.4(FANCA):c.3201C>A (p.Ala1067=)
NM_000135.4(FANCA):c.3202A>G (p.Ser1068Gly)
NM_000135.4(FANCA):c.3204C>T (p.Ser1068=)
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg) rs756620986
NM_000135.4(FANCA):c.3207T>C (p.Leu1069=) rs2143138181
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
NM_000135.4(FANCA):c.3211A>C (p.Arg1071=)
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs) rs2143138138
NM_000135.4(FANCA):c.3216G>A (p.Gln1072=) rs753298211
NM_000135.4(FANCA):c.3216G>C (p.Gln1072His) rs753298211
NM_000135.4(FANCA):c.3218G>A (p.Arg1073Lys)
NM_000135.4(FANCA):c.3219G>A (p.Arg1073=) rs755453758
NM_000135.4(FANCA):c.321T>C (p.Val107=) rs2143680806
NM_000135.4(FANCA):c.3222G>A (p.Glu1074=) rs575923160
NM_000135.4(FANCA):c.3225G>C (p.Leu1075=)
NM_000135.4(FANCA):c.3228A>G (p.Leu1076=) rs765285538
NM_000135.4(FANCA):c.3230T>C (p.Met1077Thr) rs776603588
NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys)
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter) rs764030196
NM_000135.4(FANCA):c.3238C>A (p.Arg1080=)
NM_000135.4(FANCA):c.3239+10A>G
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3239+11C>T
NM_000135.4(FANCA):c.3239+12T>C
NM_000135.4(FANCA):c.3239+14C>T
NM_000135.4(FANCA):c.3239+15C>T
NM_000135.4(FANCA):c.3239+17C>A
NM_000135.4(FANCA):c.3239+18C>A rs781742623
NM_000135.4(FANCA):c.3239+1G>A rs2143137762
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239+2T>G rs1567603724
NM_000135.4(FANCA):c.3239+7C>G rs775293779
NM_000135.4(FANCA):c.3239+82T>G rs2038511531
NM_000135.4(FANCA):c.3239+8C>T rs2038514547
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu) rs1555538571
NM_000135.4(FANCA):c.323C>T (p.Pro108Leu)
NM_000135.4(FANCA):c.3240-12C>G
NM_000135.4(FANCA):c.3240-12C>T
NM_000135.4(FANCA):c.3240-16A>G
NM_000135.4(FANCA):c.3240-17C>A rs780439636
NM_000135.4(FANCA):c.3240-17C>T rs780439636
NM_000135.4(FANCA):c.3240-18A>T
NM_000135.4(FANCA):c.3240-1G>A rs2038478071
NM_000135.4(FANCA):c.3240-20A>G
NM_000135.4(FANCA):c.3240-2A>G rs2038478110
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.3240-8C>G rs2143128494
NM_000135.4(FANCA):c.3240G>A (p.Arg1080=)
NM_000135.4(FANCA):c.3241_3626+1del
NM_000135.4(FANCA):c.3243C>A (p.Ile1081=) rs2143128420
NM_000135.4(FANCA):c.3244C>T (p.Leu1082Phe) rs2038477938
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs) rs2143128346
NM_000135.4(FANCA):c.3246C>G (p.Leu1082=) rs753864057
NM_000135.4(FANCA):c.3247C>T (p.Leu1083Phe) rs2143128365
NM_000135.4(FANCA):c.324C>A (p.Pro108=)
NM_000135.4(FANCA):c.324C>G (p.Pro108=) rs775822054
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro)
NM_000135.4(FANCA):c.3251G>T (p.Arg1084Leu) rs752642945
NM_000135.4(FANCA):c.3252C>T (p.Arg1084=)
NM_000135.4(FANCA):c.3254T>G (p.Leu1085Arg)
NM_000135.4(FANCA):c.3255G>A (p.Leu1085=) rs1485904394
NM_000135.4(FANCA):c.3255G>C (p.Leu1085=)
NM_000135.4(FANCA):c.3258T>C (p.Pro1086=)
NM_000135.4(FANCA):c.325G>A (p.Val109Met) rs772639206
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)
NM_000135.4(FANCA):c.3261G>C (p.Ser1087=)
NM_000135.4(FANCA):c.3264T>C (p.Ser1088=) rs1167053992
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs) rs1035003476
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly) rs2038476999
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3270_3271del (p.Cys1091fs) rs2143128062
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) rs1450151864
NM_000135.4(FANCA):c.3273C>T (p.Cys1091=) rs1450151864
NM_000135.4(FANCA):c.3276C>T (p.Gly1092=)
NM_000135.4(FANCA):c.327G>C (p.Val109=)
NM_000135.4(FANCA):c.3281G>A (p.Ser1094Asn)
NM_000135.4(FANCA):c.3281G>C (p.Ser1094Thr) rs946572285
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg) rs761244757
NM_000135.4(FANCA):c.3282C>T (p.Ser1094=) rs761244757
NM_000135.4(FANCA):c.3286C>G (p.Gln1096Glu)
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter) rs775799529
NM_000135.4(FANCA):c.3287A>G (p.Gln1096Arg) rs1598074664
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His) rs1433848980
NM_000135.4(FANCA):c.3291A>G (p.Ala1097=) rs2143127816
NM_000135.4(FANCA):c.3293A>G (p.Glu1098Gly)
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)
NM_000135.4(FANCA):c.3297G>A (p.Gln1099=) rs779268656
NM_000135.4(FANCA):c.3299C>A (p.Pro1100His)
NM_000135.4(FANCA):c.32del (p.Ser11fs)
NM_000135.4(FANCA):c.3301A>G (p.Ile1101Val) rs2038475500
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)
NM_000135.4(FANCA):c.3305C>T (p.Thr1102Ile) rs771117949
NM_000135.4(FANCA):c.330T>C (p.Gly110=) rs2143680634
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)
NM_000135.4(FANCA):c.3311G>C (p.Arg1104Thr)
NM_000135.4(FANCA):c.3312A>G (p.Arg1104=) rs1598074599
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)
NM_000135.4(FANCA):c.3315C>T (p.Cys1105=) rs749550737
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3318G>A (p.Glu1106=)
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer)
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
NM_000135.4(FANCA):c.331_334dup (p.Leu112fs) rs2040859131
NM_000135.4(FANCA):c.3321G>T (p.Gln1107His) rs1276452090
NM_000135.4(FANCA):c.3324C>T (p.Phe1108=) rs2143127434
NM_000135.4(FANCA):c.3327C>T (p.Phe1109=)
NM_000135.4(FANCA):c.3328del (p.His1110fs)
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro) rs752837228
NM_000135.4(FANCA):c.3330C>A (p.His1110Gln)
NM_000135.4(FANCA):c.3331T>G (p.Leu1111Val)
NM_000135.4(FANCA):c.3333G>A (p.Leu1111=)
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) rs2038474528
NM_000135.4(FANCA):c.3336C>G (p.Val1112=) rs1249462859
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys) rs1236607168
NM_000135.4(FANCA):c.3342T>C (p.Ser1114=) rs2143127277
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly) rs1057520051
NM_000135.4(FANCA):c.3345G>A (p.Glu1115=)
NM_000135.4(FANCA):c.3348+11C>G rs367624518
NM_000135.4(FANCA):c.3348+13T>C
NM_000135.4(FANCA):c.3348+15T>G
NM_000135.4(FANCA):c.3348+19C>G
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3348+20G>A rs374602648
NM_000135.4(FANCA):c.3348+2T>G
NM_000135.4(FANCA):c.3348+4G>A rs1217286568
NM_000135.4(FANCA):c.3348+5G>A rs1343799019
NM_000135.4(FANCA):c.3348+7G>C
NM_000135.4(FANCA):c.3348+8C>G rs571631071
NM_000135.4(FANCA):c.3348+8C>T rs571631071
NM_000135.4(FANCA):c.3348+9C>T rs2143127104
NM_000135.4(FANCA):c.3349-10T>C
NM_000135.4(FANCA):c.3349-11C>T
NM_000135.4(FANCA):c.3349-15T>C
NM_000135.4(FANCA):c.3349-18C>T
NM_000135.4(FANCA):c.3349-1G>C
NM_000135.4(FANCA):c.3349-2A>G rs2038409874
NM_000135.4(FANCA):c.3349-5dup
NM_000135.4(FANCA):c.3349-6_3349-5del rs2143109700
NM_000135.4(FANCA):c.3349-7T>C
NM_000135.4(FANCA):c.3349-8T>C rs2143109726
NM_000135.4(FANCA):c.3349-9C>T rs1463228706
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr) rs2038409656
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.4(FANCA):c.3360C>T (p.Cys1120=) rs2143109489
NM_000135.4(FANCA):c.3364C>T (p.His1122Tyr)
NM_000135.4(FANCA):c.336C>G (p.Leu112=) rs774843944
NM_000135.4(FANCA):c.3372T>C (p.Gly1124=)
NM_000135.4(FANCA):c.3375C>G (p.Ala1125=)
NM_000135.4(FANCA):c.3376C>T (p.Leu1126=) rs2143109313
NM_000135.4(FANCA):c.3377T>C (p.Leu1126Pro) rs2038408800
NM_000135.4(FANCA):c.3378G>A (p.Leu1126=)
NM_000135.4(FANCA):c.3378G>C (p.Leu1126=)
NM_000135.4(FANCA):c.337_338del (p.Ala114fs) rs2143680554
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3384G>A (p.Gln1128=) rs867468844
NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val) rs2038408351
NM_000135.4(FANCA):c.3387C>T (p.Asp1129=) rs2143109171
NM_000135.4(FANCA):c.3388A>G (p.Ile1130Val) rs2038408286
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met) rs373168838
NM_000135.4(FANCA):c.3390C>T (p.Ile1130=) rs373168838
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) rs2143109078
NM_000135.4(FANCA):c.3393T>A (p.Thr1131=)
NM_000135.4(FANCA):c.3393T>G (p.Thr1131=) rs2143109062
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
NM_000135.4(FANCA):c.3395C>T (p.Ala1132Val)
NM_000135.4(FANCA):c.3396C>A (p.Ala1132=)
NM_000135.4(FANCA):c.3396C>G (p.Ala1132=)
NM_000135.4(FANCA):c.3396C>T (p.Ala1132=)
NM_000135.4(FANCA):c.3396_3399del (p.His1133fs) rs2038407808
NM_000135.4(FANCA):c.3397del (p.His1133fs) rs758917273
NM_000135.4(FANCA):c.3398del (p.His1133fs) rs2038407878
NM_000135.4(FANCA):c.339_340del (p.Ala114fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3401dup (p.Phe1135fs)
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3404T>G (p.Phe1135Cys) rs2143108985
NM_000135.4(FANCA):c.3408+11C>T
NM_000135.4(FANCA):c.3408+18C>T
NM_000135.4(FANCA):c.3408+19C>T
NM_000135.4(FANCA):c.3408+1G>A rs1567601557
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3408+6A>T rs1269046351
NM_000135.4(FANCA):c.3408+7T>A
NM_000135.4(FANCA):c.3408+7T>C
NM_000135.4(FANCA):c.3408+8G>A
NM_000135.4(FANCA):c.3408+9C>A
NM_000135.4(FANCA):c.3408+9C>T rs377702890
NM_000135.4(FANCA):c.3409-11C>T
NM_000135.4(FANCA):c.3409-14G>A
NM_000135.4(FANCA):c.3409-14G>T
NM_000135.4(FANCA):c.3409-15C>T
NM_000135.4(FANCA):c.3409-18C>T rs762166434
NM_000135.4(FANCA):c.3409-19G>A
NM_000135.4(FANCA):c.3409-20T>C
NM_000135.4(FANCA):c.3409-22_3409-20del
NM_000135.4(FANCA):c.3409-25_3418del
NM_000135.4(FANCA):c.3409-2A>C rs2143107119
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3409-3C>T
NM_000135.4(FANCA):c.3409-3_3417del
NM_000135.4(FANCA):c.3409-5T>G rs2038402047
NM_000135.4(FANCA):c.3409-6C>G rs377428227
NM_000135.4(FANCA):c.3409-7C>T
NM_000135.4(FANCA):c.3409-8T>C rs2038402291
NM_000135.4(FANCA):c.3412C>T (p.Leu1138Phe) rs138417003
NM_000135.4(FANCA):c.3414C>A (p.Leu1138=) rs2143107000
NM_000135.4(FANCA):c.3414C>T (p.Leu1138=)
NM_000135.4(FANCA):c.3417G>A (p.Leu1139=) rs1376693764
NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr)
NM_000135.4(FANCA):c.3419A>G (p.Asn1140Ser)
NM_000135.4(FANCA):c.3421G>A (p.Ala1141Thr)
NM_000135.4(FANCA):c.3421G>T (p.Ala1141Ser) rs547984666
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg) rs2038401184
NM_000135.4(FANCA):c.3425G>A (p.Cys1142Tyr)
NM_000135.4(FANCA):c.3425G>C (p.Cys1142Ser)
NM_000135.4(FANCA):c.3428T>C (p.Leu1143Pro)
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg) rs1188842855
NM_000135.4(FANCA):c.3429G>T (p.Leu1143=)
NM_000135.4(FANCA):c.342C>G (p.Ala114=) rs777989691
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)
NM_000135.4(FANCA):c.3437G>A (p.Arg1146Lys)
NM_000135.4(FANCA):c.3439G>C (p.Asp1147His) rs2038400529
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs) rs2143106522
NM_000135.4(FANCA):c.3441C>T (p.Asp1147=) rs2038400468
NM_000135.4(FANCA):c.3450G>C (p.Leu1150=) rs1266179547
NM_000135.4(FANCA):c.3450G>T (p.Leu1150=)
NM_000135.4(FANCA):c.3456C>G (p.Val1152=) rs530619438
NM_000135.4(FANCA):c.3456C>T (p.Val1152=)
NM_000135.4(FANCA):c.345G>A (p.Gly115=)
NM_000135.4(FANCA):c.3462C>G (p.Phe1154Leu)
NM_000135.4(FANCA):c.3466C>G (p.Leu1156Val)
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs) rs2143106211
NM_000135.4(FANCA):c.3467T>A (p.Leu1156Gln) rs1281597417
NM_000135.4(FANCA):c.3469G>T (p.Ala1157Ser) rs1347794550
NM_000135.4(FANCA):c.346A>C (p.Met116Leu)
NM_000135.4(FANCA):c.3470C>T (p.Ala1157Val)
NM_000135.4(FANCA):c.3471C>G (p.Ala1157=) rs2143106130
NM_000135.4(FANCA):c.3471C>T (p.Ala1157=)
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)
NM_000135.4(FANCA):c.3477C>T (p.Cys1159=) rs2143106071
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
NM_000135.4(FANCA):c.3480G>A (p.Gln1160=) rs983310870
NM_000135.4(FANCA):c.3480G>C (p.Gln1160His) rs983310870
NM_000135.4(FANCA):c.3481A>G (p.Thr1161Ala)
NM_000135.4(FANCA):c.3482C>A (p.Thr1161Lys) rs142833057
NM_000135.4(FANCA):c.3486A>G (p.Lys1162=) rs746491969
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) rs2038399117
NM_000135.4(FANCA):c.3492C>G (p.Pro1164=)
NM_000135.4(FANCA):c.3493T>C (p.Leu1165=)
NM_000135.4(FANCA):c.3496A>G (p.Ile1166Val)
NM_000135.4(FANCA):c.3499T>C (p.Leu1167=) rs2143105878
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3503C>T (p.Thr1168Ile)
NM_000135.4(FANCA):c.3504C>A (p.Thr1168=) rs371464360
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=) rs371464360
NM_000135.4(FANCA):c.3504C>T (p.Thr1168=) rs371464360
NM_000135.4(FANCA):c.3504_3513+55del
NM_000135.4(FANCA):c.3507T>C (p.Ser1169=) rs1211736375
NM_000135.4(FANCA):c.3508G>C (p.Ala1170Pro) rs778280114
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro) rs1598070682
NM_000135.4(FANCA):c.3513+10C>T rs1431403785
NM_000135.4(FANCA):c.3513+12G>A
NM_000135.4(FANCA):c.3513+12G>T
NM_000135.4(FANCA):c.3513+14C>T
NM_000135.4(FANCA):c.3513+17G>A
NM_000135.4(FANCA):c.3513+17G>C
NM_000135.4(FANCA):c.3513+17_3513+19del rs2038397381
NM_000135.4(FANCA):c.3513+1G>C
NM_000135.4(FANCA):c.3513+20T>C
NM_000135.4(FANCA):c.3513+20T>G
NM_000135.4(FANCA):c.3513+4G>A rs878946193
NM_000135.4(FANCA):c.3513+4G>C rs878946193
NM_000135.4(FANCA):c.3513+8A>G
NM_000135.4(FANCA):c.3513+9G>C rs1394337237
NM_000135.4(FANCA):c.3513G>A (p.Leu1171=) rs2038398296
NM_000135.4(FANCA):c.3514-10C>G rs561558430
NM_000135.4(FANCA):c.3514-10C>T rs561558430
NM_000135.4(FANCA):c.3514-11T>C
NM_000135.4(FANCA):c.3514-11T>G
NM_000135.4(FANCA):c.3514-11TC[2] rs1442804362
NM_000135.4(FANCA):c.3514-13G>C
NM_000135.4(FANCA):c.3514-14T>C
NM_000135.4(FANCA):c.3514-15G>A
NM_000135.4(FANCA):c.3514-16G>C
NM_000135.4(FANCA):c.3514-1G>C
NM_000135.4(FANCA):c.3514-1G>T rs2143088468
NM_000135.4(FANCA):c.3514-5C>A rs2143088493
NM_000135.4(FANCA):c.3514-5C>T
NM_000135.4(FANCA):c.3514-6C>T rs1018130831
NM_000135.4(FANCA):c.3514-7T>C rs2143088550
NM_000135.4(FANCA):c.3514-8C>G
NM_000135.4(FANCA):c.3514-8C>T rs2143088562
NM_000135.4(FANCA):c.3515T>C (p.Val1172Ala)
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3519G>C (p.Trp1173Cys)
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) rs1598067532
NM_000135.4(FANCA):c.3525G>C (p.Pro1175=) rs765106818
NM_000135.4(FANCA):c.3527G>T (p.Ser1176Ile)
NM_000135.4(FANCA):c.3528C>T (p.Ser1176=)
NM_000135.4(FANCA):c.3529C>T (p.Leu1177=) rs2038335485
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys)
NM_000135.4(FANCA):c.3534G>A (p.Glu1178=) rs1598067510
NM_000135.4(FANCA):c.3536C>T (p.Pro1179Leu)
NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu) rs372706571
NM_000135.4(FANCA):c.3539T>A (p.Val1180Glu) rs2143088182
NM_000135.4(FANCA):c.353C>G (p.Ala118Gly)
NM_000135.4(FANCA):c.3540G>A (p.Val1180=) rs1423399664
NM_000135.4(FANCA):c.3540_3545del (p.Leu1181_Leu1182del)
NM_000135.4(FANCA):c.3541C>T (p.Leu1181=) rs2143088159
NM_000135.4(FANCA):c.3542T>G (p.Leu1181Arg) rs1300778675
NM_000135.4(FANCA):c.3543G>A (p.Leu1181=)
NM_000135.4(FANCA):c.3543G>C (p.Leu1181=) rs1336604242
NM_000135.4(FANCA):c.3543G>T (p.Leu1181=) rs1336604242
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly) rs763856094
NM_000135.4(FANCA):c.3548G>C (p.Cys1183Ser) rs2143088016
NM_000135.4(FANCA):c.354C>T (p.Ala118=) rs2143680281
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln) rs147672303
NM_000135.4(FANCA):c.3552G>C (p.Arg1184=) rs774029286
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter) rs770393751
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter) rs1185165443
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3560G>A (p.Arg1187Lys)
NM_000135.4(FANCA):c.3560dup (p.His1188fs) rs2062211067
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
NM_000135.4(FANCA):c.3566G>T (p.Cys1189Phe)
NM_000135.4(FANCA):c.3567C>T (p.Cys1189=)
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter) rs2062210802
NM_000135.4(FANCA):c.3569A>G (p.Gln1190Arg) rs1450954823
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3570G>C (p.Gln1190His) rs1382222104
NM_000135.4(FANCA):c.3574C>T (p.Pro1192Ser) rs2062210666
NM_000135.4(FANCA):c.3577C>T (p.Leu1193=) rs2143087511
NM_000135.4(FANCA):c.357T>C (p.Ser119=) rs2143680257
NM_000135.4(FANCA):c.3580C>T (p.Pro1194Ser) rs1415910337
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3582C>T (p.Pro1194=) rs2143087454
NM_000135.4(FANCA):c.3583C>G (p.Arg1195Gly) rs143642304
NM_000135.4(FANCA):c.3586G>C (p.Glu1196Gln) rs1390620949
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3589C>T (p.Leu1197=) rs2143087368
NM_000135.4(FANCA):c.3591G>C (p.Leu1197=) rs55773634
NM_000135.4(FANCA):c.3591G>T (p.Leu1197=)
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=) rs1240994313
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
NM_000135.4(FANCA):c.3600A>G (p.Leu1200=) rs2143087262
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3603A>C (p.Gln1201His) rs1157577447
NM_000135.4(FANCA):c.3605_3606delinsGC (p.Glu1202Gly) rs2062210162
NM_000135.4(FANCA):c.360C>A (p.Ser120Arg) rs968636087
NM_000135.4(FANCA):c.360C>T (p.Ser120=) rs968636087
NM_000135.4(FANCA):c.3610C>A (p.Arg1204=)
NM_000135.4(FANCA):c.3610C>G (p.Arg1204Gly) rs759303096
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) rs1555536361
NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro) rs770622823
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) rs1313006784
NM_000135.4(FANCA):c.3620C>T (p.Ala1207Val)
NM_000135.4(FANCA):c.3621C>T (p.Ala1207=) rs1269626015
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile) rs1351484293
NM_000135.4(FANCA):c.3625G>A (p.Asp1209Asn)
NM_000135.4(FANCA):c.3626+13G>T rs2143086671
NM_000135.4(FANCA):c.3626+18G>C
NM_000135.4(FANCA):c.3626+19A>C
NM_000135.4(FANCA):c.3626+1G>C rs34885858
NM_000135.4(FANCA):c.3626+1G>T rs34885858
NM_000135.4(FANCA):c.3626+2T>G
NM_000135.4(FANCA):c.3626+5G>A rs370801038
NM_000135.4(FANCA):c.3626+5G>C rs370801038
NM_000135.4(FANCA):c.3626+7G>T
NM_000135.4(FANCA):c.3627-11C>G
NM_000135.4(FANCA):c.3627-11C>T
NM_000135.4(FANCA):c.3627-13C>T
NM_000135.4(FANCA):c.3627-13CT[2]
NM_000135.4(FANCA):c.3627-14T>A
NM_000135.4(FANCA):c.3627-14dup
NM_000135.4(FANCA):c.3627-16_3627-11dup
NM_000135.4(FANCA):c.3627-18C>A
NM_000135.4(FANCA):c.3627-18C>G
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3627-1G>C rs2062172440
NM_000135.4(FANCA):c.3627-20C>G rs1567598547
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.3627-4C>G rs2062172483
NM_000135.4(FANCA):c.3627-5C>A rs1417894512
NM_000135.4(FANCA):c.3627-7G>C rs1161905441
NM_000135.4(FANCA):c.3627-9C>G
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs) rs2062172394
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) rs776001484
NM_000135.4(FANCA):c.3631C>T (p.Leu1211Phe)
NM_000135.4(FANCA):c.3633C>G (p.Leu1211=)
NM_000135.4(FANCA):c.3635C>A (p.Ser1212Tyr)
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe) rs1203053045
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3638dup (p.Pro1213_Glu1214insTer) rs1567598488
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=) rs1567598479
NM_000135.4(FANCA):c.3639del (p.Glu1214fs) rs2062172051
NM_000135.4(FANCA):c.363G>C (p.Val121=)
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter) rs2062172011
NM_000135.4(FANCA):c.3641A>T (p.Glu1214Val)
NM_000135.4(FANCA):c.3646G>T (p.Ala1216Ser) rs1262639465
NM_000135.4(FANCA):c.3648C>T (p.Ala1216=)
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter) rs2040857662
NM_000135.4(FANCA):c.3650C>G (p.Ser1217Cys) rs2062171853
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser) rs1555535564
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)
NM_000135.4(FANCA):c.3657A>T (p.Ala1219=) rs2143062526
NM_000135.4(FANCA):c.3658C>G (p.Pro1220Ala)
NM_000135.4(FANCA):c.3659C>G (p.Pro1220Arg) rs2062171639
NM_000135.4(FANCA):c.3662A>T (p.Asn1221Ile)
NM_000135.4(FANCA):c.3663C>T (p.Asn1221=) rs781216012
NM_000135.4(FANCA):c.3664C>G (p.Pro1222Ala)
NM_000135.4(FANCA):c.3666G>T (p.Pro1222=) rs780031277
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter) rs2143062233
NM_000135.4(FANCA):c.3675C>T (p.Leu1225=)
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs)
NM_000135.4(FANCA):c.3679G>A (p.Ala1227Thr)
NM_000135.4(FANCA):c.367C>A (p.Gln123Lys) rs985886242
NM_000135.4(FANCA):c.367C>G (p.Gln123Glu) rs985886242
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
NM_000135.4(FANCA):c.3682G>A (p.Ala1228Thr) rs2062171185
NM_000135.4(FANCA):c.3683C>G (p.Ala1228Gly)
NM_000135.4(FANCA):c.3685G>A (p.Ala1229Thr) rs2143062040
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly) rs1465548673
NM_000135.4(FANCA):c.368A>G (p.Gln123Arg)
NM_000135.4(FANCA):c.3691C>T (p.His1231Tyr)
NM_000135.4(FANCA):c.3696T>C (p.Phe1232=) rs563966600
NM_000135.4(FANCA):c.3696T>G (p.Phe1232Leu) rs563966600
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3698C>G (p.Ala1233Gly) rs545742908
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.369G>A (p.Gln123=)
NM_000135.4(FANCA):c.36C>G (p.Gly12=) rs751361669
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val) rs1598063117
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3706C>G (p.Gln1236Glu)
NM_000135.4(FANCA):c.3708A>C (p.Gln1236His) rs1192518263
NM_000135.4(FANCA):c.3715G>A (p.Glu1239Lys) rs2143061441
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)
NM_000135.4(FANCA):c.3715_3729del (p.Glu1239_Arg1243del) rs1375036674
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.371T>C (p.Ile124Thr)
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.3726C>A (p.Ile1242=) rs972127356
NM_000135.4(FANCA):c.3726C>T (p.Ile1242=)
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=) rs1051421921
NM_000135.4(FANCA):c.3729G>A (p.Arg1243=) rs762929756
NM_000135.4(FANCA):c.372C>A (p.Ile124=) rs765016775
NM_000135.4(FANCA):c.372C>G (p.Ile124Met) rs765016775
NM_000135.4(FANCA):c.3732G>C (p.Lys1244Asn)
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs) rs2143060935
NM_000135.4(FANCA):c.3742A>C (p.Lys1248Gln)
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) rs1555535472
NM_000135.4(FANCA):c.374G>C (p.Cys125Ser) rs761165542
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter) rs752126515
NM_000135.4(FANCA):c.3753C>T (p.Cys1251=)
NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)
NM_000135.4(FANCA):c.3756G>A (p.Glu1252=)
NM_000135.4(FANCA):c.3757A>G (p.Arg1253Gly) rs2143060537
NM_000135.4(FANCA):c.375C>T (p.Cys125=) rs199793463
NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter) rs375700263
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3761_3764dup (p.Leu1256fs) rs2062169220
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter) rs2062169243
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
NM_000135.4(FANCA):c.3765+13del
NM_000135.4(FANCA):c.3765+14T>A
NM_000135.4(FANCA):c.3765+16C>G
NM_000135.4(FANCA):c.3765+16C>T rs745639466
NM_000135.4(FANCA):c.3765+18T>G
NM_000135.4(FANCA):c.3765+19T>C
NM_000135.4(FANCA):c.3765+1G>A
NM_000135.4(FANCA):c.3765+1G>T rs2062169124
NM_000135.4(FANCA):c.3765+20T>C
NM_000135.4(FANCA):c.3765+2C>T rs776827467
NM_000135.4(FANCA):c.3765+7T>C
NM_000135.4(FANCA):c.3765+8A>C rs2143060169
NM_000135.4(FANCA):c.3766-1G>A
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val)
NM_000135.4(FANCA):c.3768A>C (p.Leu1256=)
NM_000135.4(FANCA):c.3768A>T (p.Leu1256=) rs747616573
NM_000135.4(FANCA):c.376A>G (p.Thr126Ala)
NM_000135.4(FANCA):c.376A>T (p.Thr126Ser) rs953219736
NM_000135.4(FANCA):c.3771G>A (p.Leu1257=) rs1402327994
NM_000135.4(FANCA):c.3771G>T (p.Leu1257Phe) rs1402327994
NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del) rs2062115822
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del) rs1157717956
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu)
NM_000135.4(FANCA):c.3783C>T (p.Phe1261=) rs2062115689
NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu) rs2062115605
NM_000135.4(FANCA):c.3786C>T (p.Phe1262=)
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr)
NM_000135.4(FANCA):c.3788T>C (p.Phe1263Ser) rs2062115558
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer)
NM_000135.4(FANCA):c.378G>A (p.Thr126=) rs544680245
NM_000135.4(FANCA):c.378G>C (p.Thr126=) rs544680245
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3792C>G (p.Ser1264=)
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del) rs2151716800
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3795G>A (p.Leu1265=) rs1010989878
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
NM_000135.4(FANCA):c.37C>G (p.Gln13Glu) rs766131144
NM_000135.4(FANCA):c.3801C>G (p.Gly1267=) rs143772894
NM_000135.4(FANCA):c.3804G>C (p.Leu1268=) rs1449170388
NM_000135.4(FANCA):c.3807G>A (p.Leu1269=)
NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter) rs752800577
NM_000135.4(FANCA):c.380C>T (p.Ala127Val) rs2143679916
NM_000135.4(FANCA):c.3810G>C (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3810G>T (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3813A>T (p.Ser1271=)
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr) rs2062114648
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg)
NM_000135.4(FANCA):c.3818dup (p.Thr1274fs)
NM_000135.4(FANCA):c.3819G>A (p.Leu1273=)
NM_000135.4(FANCA):c.381T>C (p.Ala127=) rs771232511
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=) rs1382340096
NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.4(FANCA):c.3826A>G (p.Asn1276Asp) rs2062114365
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828+1G>T rs1432988639
NM_000135.4(FANCA):c.3828+1del
NM_000135.4(FANCA):c.3828+2dup rs2062114186
NM_000135.4(FANCA):c.3828T>C (p.Asn1276=)
NM_000135.4(FANCA):c.3829-1G>C rs2062090760
NM_000135.4(FANCA):c.3829-71_3868del
NM_000135.4(FANCA):c.3834C>T (p.Thr1278=)
NM_000135.4(FANCA):c.3837A>G (p.Thr1279=) rs2151714884
NM_000135.4(FANCA):c.3841C>T (p.Leu1281=) rs2151714870
NM_000135.4(FANCA):c.3846A>C (p.Pro1282=) rs2151714851
NM_000135.4(FANCA):c.3846A>G (p.Pro1282=) rs2151714851
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
NM_000135.4(FANCA):c.3847_3857del (p.Lys1283fs) rs2062089925
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3851C>A (p.Ala1284Asp)
NM_000135.4(FANCA):c.3853T>C (p.Phe1285Leu) rs1470679036
NM_000135.4(FANCA):c.3855C>A (p.Phe1285Leu)
NM_000135.4(FANCA):c.3855C>T (p.Phe1285=)
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln) rs761705192
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe) rs17227354
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr) rs374945563
NM_000135.4(FANCA):c.3863G>T (p.Cys1288Phe) rs2062089641
NM_000135.4(FANCA):c.3865G>C (p.Ala1289Pro) rs2151714785
NM_000135.4(FANCA):c.3867A>T (p.Ala1289=)
NM_000135.4(FANCA):c.3869C>T (p.Ala1290Val)
NM_000135.4(FANCA):c.386C>A (p.Ala129Glu) rs577625130
NM_000135.4(FANCA):c.386C>G (p.Ala129Gly)
NM_000135.4(FANCA):c.3871A>G (p.Ile1291Val) rs547572315
NM_000135.4(FANCA):c.3873C>A (p.Ile1291=) rs2062089414
NM_000135.4(FANCA):c.3876_3877delinsAA (p.Glu1293Lys)
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys) rs1015729981
NM_000135.4(FANCA):c.3878del (p.Glu1293fs) rs2062089336
NM_000135.4(FANCA):c.387G>T (p.Ala129=)
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>C (p.Leu1295Ser) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3888G>A (p.Glu1296=) rs1204611147
NM_000135.4(FANCA):c.3889A>G (p.Lys1297Glu)
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs) rs1555534060
NM_000135.4(FANCA):c.3896_3898del (p.Lys1299del)
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn)
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val) rs1232415717
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg) rs1264855885
NM_000135.4(FANCA):c.3900A>C (p.Ile1300=) rs2151714696
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs) rs2151714692
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
NM_000135.4(FANCA):c.3907C>T (p.Leu1303=) rs2151714673
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro) rs1598055304
NM_000135.4(FANCA):c.3909G>A (p.Leu1303=)
NM_000135.4(FANCA):c.390G>T (p.Glu130Asp)
NM_000135.4(FANCA):c.3910del (p.Ala1304fs) rs2151714666
NM_000135.4(FANCA):c.3912A>T (p.Ala1304=) rs545021222
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs) rs748453841
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu)
NM_000135.4(FANCA):c.3917_3918del (p.Phe1306fs) rs1281446470
NM_000135.4(FANCA):c.3918T>C (p.Phe1306=) rs2151714638
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu)
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) rs2151714613
NM_000135.4(FANCA):c.3920del (p.Gln1307fs) rs1228394297
NM_000135.4(FANCA):c.3922T>C (p.Leu1308=)
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe) rs775127240
NM_000135.4(FANCA):c.3926_3929del (p.Thr1309fs) rs2062087915
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs) rs2151714603
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3930G>A (p.Glu1310=) rs2151714594
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp) rs2151714594
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
NM_000135.4(FANCA):c.3932G>A (p.Ser1311Asn) rs2062087829
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.3934+1_3934+18del rs2062086999
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3935-1G>A rs1555533693
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3935-2A>T rs1189106357
NM_000135.4(FANCA):c.3936C>T (p.Asp1312=)
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe) rs551306400
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
NM_000135.4(FANCA):c.3939C>T (p.Leu1313=)
NM_000135.4(FANCA):c.393C>A (p.Thr131=) rs1217316233
NM_000135.4(FANCA):c.3940A>C (p.Arg1314=)
NM_000135.4(FANCA):c.3945G>A (p.Leu1315=) rs941282193
NM_000135.4(FANCA):c.3945G>C (p.Leu1315=) rs941282193
NM_000135.4(FANCA):c.3948G>A (p.Gly1316=)
NM_000135.4(FANCA):c.394A>T (p.Ser132Cys)
NM_000135.4(FANCA):c.3951G>A (p.Arg1317=) rs1439529670
NM_000135.4(FANCA):c.3952C>G (p.Leu1318Val) rs2151712993
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3954C>T (p.Leu1318=) rs187297609
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe)
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
NM_000135.4(FANCA):c.3957C>T (p.Leu1319=)
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser) rs755375493
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys) rs755375493
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro) rs374649848
NM_000135.4(FANCA):c.3966G>A (p.Val1322=)
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg) rs1272640964
NM_000135.4(FANCA):c.396dup (p.His133fs) rs2040855193
NM_000135.4(FANCA):c.3970C>T (p.Pro1324Ser) rs2151712907
NM_000135.4(FANCA):c.3972G>A (p.Pro1324=)
NM_000135.4(FANCA):c.3973G>C (p.Asp1325His) rs2062069547
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu) rs962823945
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu)
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
NM_000135.4(FANCA):c.397C>T (p.His133Tyr)
NM_000135.4(FANCA):c.3981_3982inv (p.Thr1328Ala)
NM_000135.4(FANCA):c.3984C>A (p.Thr1328=) rs917010763
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met)
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.4(FANCA):c.3990G>C (p.Leu1330=)
NM_000135.4(FANCA):c.3996T>A (p.Pro1332=)
NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu) rs774576283
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser)
NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000135.4(FANCA):c.4008C>T (p.Tyr1336=) rs1278514199
NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly) rs1268944859
NM_000135.4(FANCA):c.4010+1G>A rs2062067810
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn) rs2062067864
NM_000135.4(FANCA):c.4010_4010+18del rs2062066871
NM_000135.4(FANCA):c.4011-1G>A rs761988162
NM_000135.4(FANCA):c.4011-1G>C rs761988162
NM_000135.4(FANCA):c.4014T>C (p.Leu1338=) rs2151712093
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val)
NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del) rs2062060149
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) rs773113065
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4020C>T (p.Ser1340=)
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys)
NM_000135.4(FANCA):c.4023C>T (p.Tyr1341=)
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys)
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu)
NM_000135.4(FANCA):c.4026C>T (p.Phe1342=) rs775186188
NM_000135.4(FANCA):c.4029T>G (p.His1343Gln) rs745577614
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.4033G>C (p.Asp1345His)
NM_000135.4(FANCA):c.4038G>T (p.Ala1346=) rs755479861
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr) rs751928369
NM_000135.4(FANCA):c.4041C>A (p.Ala1347=)
NM_000135.4(FANCA):c.4041C>T (p.Ala1347=) rs2062058480
NM_000135.4(FANCA):c.4045A>C (p.Arg1349=)
NM_000135.4(FANCA):c.4053G>A (p.Glu1351=) rs1477796994
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp) rs1477796994
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=) rs2062057880
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000135.4(FANCA):c.405G>A (p.Val135=) rs1598190634
NM_000135.4(FANCA):c.4060C>T (p.Leu1354=) rs2151711931
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro)
NM_000135.4(FANCA):c.4062G>A (p.Leu1354=)
NM_000135.4(FANCA):c.4062G>T (p.Leu1354=)
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro)
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg)
NM_000135.4(FANCA):c.4064_4065dup (p.Val1356fs) rs2062057713
NM_000135.4(FANCA):c.4068T>C (p.Val1356=)
NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro) rs1456500627
NM_000135.4(FANCA):c.406C>T (p.Leu136=) rs2040854292
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val)
NM_000135.4(FANCA):c.4071T>G (p.Ala1357=) rs764090579
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His) rs1555533313
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val)
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4083_4084insG (p.Leu1362fs) rs2062057035
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val) rs775351812
NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg) rs773947543
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu) rs529210242
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000135.4(FANCA):c.4098G>A (p.Gln1366=)
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe)
NM_000135.4(FANCA):c.4100_4167+2del
NM_000135.4(FANCA):c.4101C>T (p.Leu1367=)
NM_000135.4(FANCA):c.4104C>T (p.Phe1368=) rs375237681
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met) rs201225325
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu) rs201225325
NM_000135.4(FANCA):c.4110dup (p.Gly1371fs)
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg)
NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
NM_000135.4(FANCA):c.4116T>C (p.Asp1372=)
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs) rs1567592815
NM_000135.4(FANCA):c.4118C>G (p.Thr1373Arg) rs1277481284
NM_000135.4(FANCA):c.4123_4139del (p.Thr1375fs) rs2062054591
NM_000135.4(FANCA):c.4124C>T (p.Thr1375Ile) rs2062055389
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile)
NM_000135.4(FANCA):c.4128T>C (p.Val1376=) rs1209384219
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter) rs199599393
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser) rs2062055110
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr)
NM_000135.4(FANCA):c.4137A>G (p.Pro1379=) rs1172262659
NM_000135.4(FANCA):c.4138G>A (p.Ala1380Thr) rs775234845
NM_000135.4(FANCA):c.4138G>C (p.Ala1380Pro) rs775234845
NM_000135.4(FANCA):c.4144A>C (p.Arg1382=)
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr) rs367970303
NM_000135.4(FANCA):c.4147A>G (p.Ser1383Gly) rs2062054242
NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg)
NM_000135.4(FANCA):c.4149C>T (p.Ser1383=) rs2151711619
NM_000135.4(FANCA):c.414T>C (p.Thr138=)
NM_000135.4(FANCA):c.4152G>A (p.Leu1384=) rs2062054135
NM_000135.4(FANCA):c.4155G>A (p.Glu1385=) rs770551622
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp) rs770551622
NM_000135.4(FANCA):c.4158C>G (p.Leu1386=) rs1366841040
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
NM_000135.4(FANCA):c.415G>A (p.Val139Met)
NM_000135.4(FANCA):c.4167+1G>A
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4168-1G>A
NM_000135.4(FANCA):c.4168-1G>C rs2062047006
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val) rs2062046761
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4173C>T (p.Asn1391=)
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser)
NM_000135.4(FANCA):c.4176C>G (p.Pro1392=) rs776860862
NM_000135.4(FANCA):c.4176C>T (p.Pro1392=) rs776860862
NM_000135.4(FANCA):c.417G>C (p.Val139=) rs2143679237
NM_000135.4(FANCA):c.4182A>G (p.Glu1394=)
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs) rs2062046121
NM_000135.4(FANCA):c.4186A>T (p.Ile1396Leu) rs1376923890
NM_000135.4(FANCA):c.4187T>A (p.Ile1396Lys)
NM_000135.4(FANCA):c.4187T>C (p.Ile1396Thr)
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter) rs2040853528
NM_000135.4(FANCA):c.4190C>A (p.Thr1397Lys)
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)
NM_000135.4(FANCA):c.4195G>A (p.Ala1399Thr) rs749574677
NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro) rs749574677
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val) rs1457671800
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.4200T>A (p.Arg1400=)
NM_000135.4(FANCA):c.4200T>C (p.Arg1400=) rs2151710848
NM_000135.4(FANCA):c.4209G>A (p.Leu1403=)
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter) rs2151710810
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln) rs201494304
NM_000135.4(FANCA):c.4236A>G (p.Lys1412=)
NM_000135.4(FANCA):c.4239G>A (p.Lys1413=)
NM_000135.4(FANCA):c.423G>A (p.Gln141=) rs1598190596
NM_000135.4(FANCA):c.423_426+14del rs2143678941
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs) rs2062043035
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr) rs772122405
NM_000135.4(FANCA):c.4242C>T (p.Ser1414=) rs745958661
NM_000135.4(FANCA):c.4245C>T (p.Phe1415=)
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.4250_4251del (p.His1417fs)
NM_000135.4(FANCA):c.4253T>C (p.Val1418Ala)
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)
NM_000135.4(FANCA):c.4255del (p.Ala1419fs) rs2151710687
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs) rs1555532946
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
NM_000135.4(FANCA):c.425G>C (p.Arg142Thr)
NM_000135.4(FANCA):c.426+11A>G
NM_000135.4(FANCA):c.426+13C>G
NM_000135.4(FANCA):c.426+16A>G rs1598190483
NM_000135.4(FANCA):c.426+17G>A
NM_000135.4(FANCA):c.426+18A>T
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.426+2T>A rs1598190568
NM_000135.4(FANCA):c.426+2T>C
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.426+3A>G
NM_000135.4(FANCA):c.426+4A>G
NM_000135.4(FANCA):c.426+8A>C
NM_000135.4(FANCA):c.426+8A>G
NM_000135.4(FANCA):c.426+9C>A
NM_000135.4(FANCA):c.426+9C>G rs1161434880
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.4260+2T>A rs1555532943
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp) rs2151710661
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4264C>A (p.Leu1422Met)
NM_000135.4(FANCA):c.4264C>G (p.Leu1422Val)
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa) rs2062027006
NM_000135.4(FANCA):c.4269T>C (p.Ala1423=) rs764113707
NM_000135.4(FANCA):c.427-10C>G rs766856688
NM_000135.4(FANCA):c.427-12C>G
NM_000135.4(FANCA):c.427-12C>T
NM_000135.4(FANCA):c.427-12CT[2] rs2143678081
NM_000135.4(FANCA):c.427-17G>A
NM_000135.4(FANCA):c.427-19dup
NM_000135.4(FANCA):c.427-20A>C
NM_000135.4(FANCA):c.427-2A>G rs765684774
NM_000135.4(FANCA):c.427-3C>G rs2040847223
NM_000135.4(FANCA):c.427-8C>G rs750757532
NM_000135.4(FANCA):c.427-8C>T rs750757532
NM_000135.4(FANCA):c.427-8_427-5del rs2040847430
NM_000135.4(FANCA):c.427-9T>C rs1598190255
NM_000135.4(FANCA):c.4272T>C (p.Asp1424=) rs2151709956
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly) rs587778321
NM_000135.4(FANCA):c.4274G>C (p.Arg1425Pro) rs147406377
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg)
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val) rs1350768758
NM_000135.4(FANCA):c.4278G>A (p.Gly1426=) rs2151709922
NM_000135.4(FANCA):c.4279dup (p.Asp1427fs)
NM_000135.4(FANCA):c.427A>C (p.Lys143Gln)
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000135.4(FANCA):c.427_428delinsTG (p.Lys143Trp) rs2040847073
NM_000135.4(FANCA):c.4281C>T (p.Asp1427=) rs1598048898
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser)
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.4285G>C (p.Asp1429His) rs748856769
NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr)
NM_000135.4(FANCA):c.4285_4288dup (p.Pro1430fs) rs2049528619
NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer)
NM_000135.4(FANCA):c.4287C>T (p.Asp1429=) rs2151709886
NM_000135.4(FANCA):c.4288C>G (p.Pro1430Ala)
NM_000135.4(FANCA):c.4291G>A (p.Glu1431Lys) rs1567591125
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln) rs1567591125
NM_000135.4(FANCA):c.4293G>A (p.Glu1431=)
NM_000135.4(FANCA):c.4293G>C (p.Glu1431Asp) rs1235881790
NM_000135.4(FANCA):c.4294G>A (p.Val1432Met)
NM_000135.4(FANCA):c.4295T>G (p.Val1432Gly)
NM_000135.4(FANCA):c.4296G>A (p.Val1432=) rs2151709848
NM_000135.4(FANCA):c.4296G>T (p.Val1432=)
NM_000135.4(FANCA):c.4299C>G (p.Ser1433Arg) rs568293451
NM_000135.4(FANCA):c.42C>G (p.Asp14Glu) rs750021837
NM_000135.4(FANCA):c.42C>T (p.Asp14=)
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His)
NM_000135.4(FANCA):c.4308C>T (p.Leu1436=) rs199937973
NM_000135.4(FANCA):c.4311G>A (p.Gln1437=)
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn)
NM_000135.4(FANCA):c.4314C>T (p.Ser1438=)
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4317A>G (p.Arg1439=)
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.4(FANCA):c.4319del (p.Gln1440fs) rs2151709763
NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter)
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=) rs1555532716
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)
NM_000135.4(FANCA):c.432G>A (p.Lys144=)
NM_000135.4(FANCA):c.432G>C (p.Lys144Asn)
NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala)
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn) rs769025633
NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu)
NM_000135.4(FANCA):c.4335C>T (p.Asp1445=) rs374830555
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)
NM_000135.4(FANCA):c.433C>T (p.Leu145=) rs2143677903
NM_000135.4(FANCA):c.4341C>T (p.Asp1447=)
NM_000135.4(FANCA):c.4342C>T (p.Leu1448=)
NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg) rs1223154937
NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs)
NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys) rs779236651
NM_000135.4(FANCA):c.4347C>A (p.Ser1449=) rs2151709677
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg) rs757549007
NM_000135.4(FANCA):c.4350G>A (p.Gln1450=) rs749315540
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln) rs1043241541
NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser) rs1489574740
NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg)
NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr) rs1338647532
NM_000135.4(FANCA):c.4358del (p.His1453fs) rs2151709638
NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro) rs2151709628
NM_000135.4(FANCA):c.4362C>T (p.Leu1454=) rs2151709620
NM_000135.4(FANCA):c.442C>T (p.Leu148=) rs2040846687
NM_000135.4(FANCA):c.443del (p.Leu148fs)
NM_000135.4(FANCA):c.447dup (p.Glu150fs) rs2040846500
NM_000135.4(FANCA):c.448G>T (p.Glu150Ter) rs947111024
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
NM_000135.4(FANCA):c.44C>T (p.Pro15Leu)
NM_000135.4(FANCA):c.44_69del (p.Pro15fs) rs2041137887
NM_000135.4(FANCA):c.453T>G (p.Phe151Leu) rs2143677733
NM_000135.4(FANCA):c.456T>A (p.Ala152=)
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter) rs774448881
NM_000135.4(FANCA):c.459G>A (p.Gln153=) rs2040846276
NM_000135.4(FANCA):c.45A>G (p.Pro15=)
NM_000135.4(FANCA):c.462T>C (p.Tyr154=) rs1598190143
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter) rs1419169954
NM_000135.4(FANCA):c.46G>A (p.Gly16Arg)
NM_000135.4(FANCA):c.470C>T (p.Ala157Val) rs1251792942
NM_000135.4(FANCA):c.471A>G (p.Ala157=) rs2143677575
NM_000135.4(FANCA):c.474C>T (p.His158=)
NM_000135.4(FANCA):c.487del (p.Arg163fs) rs2040845588
NM_000135.4(FANCA):c.48G>A (p.Gly16=) rs2143731322
NM_000135.4(FANCA):c.493T>A (p.Ser165Thr) rs113468465
NM_000135.4(FANCA):c.494C>G (p.Ser165Cys) rs141918444
NM_000135.4(FANCA):c.494C>T (p.Ser165Phe) rs141918444
NM_000135.4(FANCA):c.495C>A (p.Ser165=)
NM_000135.4(FANCA):c.495C>G (p.Ser165=)
NM_000135.4(FANCA):c.495del (p.Phe166fs) rs2143677288
NM_000135.4(FANCA):c.49G>T (p.Gly17Cys)
NM_000135.4(FANCA):c.4T>G (p.Ser2Ala) rs2041144813
NM_000135.4(FANCA):c.500G>A (p.Cys167Tyr) rs1257428184
NM_000135.4(FANCA):c.504A>G (p.Gln168=)
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys) rs372691338
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
NM_000135.4(FANCA):c.505G>T (p.Glu169Ter) rs372691338
NM_000135.4(FANCA):c.506A>T (p.Glu169Val) rs1403377153
NM_000135.4(FANCA):c.50G>A (p.Gly17Asp)
NM_000135.4(FANCA):c.50G>C (p.Gly17Ala) rs1326963514
NM_000135.4(FANCA):c.50del (p.Gly17fs) rs748624754
NM_000135.4(FANCA):c.50dup (p.Arg18fs)
NM_000135.4(FANCA):c.511T>C (p.Trp171Arg)
NM_000135.4(FANCA):c.512G>T (p.Trp171Leu) rs2143677109
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.513dup (p.Lys172fs) rs1555574913
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg) rs2040844359
NM_000135.4(FANCA):c.516A>G (p.Lys172=)
NM_000135.4(FANCA):c.520C>A (p.Gln174Lys) rs1454055874
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter) rs1454055874
NM_000135.4(FANCA):c.522+10A>C rs2143676941
NM_000135.4(FANCA):c.522+11G>A
NM_000135.4(FANCA):c.522+13T>C rs2143676888
NM_000135.4(FANCA):c.522+17A>C
NM_000135.4(FANCA):c.522+17_522+20del
NM_000135.4(FANCA):c.522+19del
NM_000135.4(FANCA):c.522+2T>C rs2143677013
NM_000135.4(FANCA):c.522+2T>G
NM_000135.4(FANCA):c.522+507_793-1273del
NM_000135.4(FANCA):c.522+6dup rs2143676990
NM_000135.4(FANCA):c.522+8T>G rs764367299
NM_000135.4(FANCA):c.523-10T>C rs776200171
NM_000135.4(FANCA):c.523-11T>G
NM_000135.4(FANCA):c.523-14G>C rs2040744991
NM_000135.4(FANCA):c.523-15T>C
NM_000135.4(FANCA):c.523-18T>G
NM_000135.4(FANCA):c.523-19GTTTT[2] rs755643283
NM_000135.4(FANCA):c.523-19_523-16del rs748945841
NM_000135.4(FANCA):c.523-19_523-17del
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-20del
NM_000135.4(FANCA):c.523-20dup rs775750910
NM_000135.4(FANCA):c.523-24_523-10dup
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.523-37TTGTTT[2] rs530849202
NM_000135.4(FANCA):c.523-37TTGTTT[4]
NM_000135.4(FANCA):c.523-4dup
NM_000135.4(FANCA):c.523-5_523-4dup rs2143657729
NM_000135.4(FANCA):c.523-7T>C
NM_000135.4(FANCA):c.523-8T>C rs2143657783
NM_000135.4(FANCA):c.523-9G>C rs2143657796
NM_000135.4(FANCA):c.523-9_523-6del rs2143657759
NM_000135.4(FANCA):c.523-9_523-7del rs777446762
NM_000135.4(FANCA):c.525T>C (p.Ser175=) rs2143657669
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys) rs35566151
NM_000135.4(FANCA):c.528T>C (p.Ser176=) rs902257190
NM_000135.4(FANCA):c.529T>G (p.Leu177Val) rs2040743961
NM_000135.4(FANCA):c.534G>A (p.Leu178=)
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
NM_000135.4(FANCA):c.53G>A (p.Arg18His)
NM_000135.4(FANCA):c.541G>A (p.Ala181Thr) rs2143657513
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu) rs17232246
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val) rs1598184528
NM_000135.4(FANCA):c.542dup (p.Val182fs)
NM_000135.4(FANCA):c.543G>T (p.Ala181=) rs143314367
NM_000135.4(FANCA):c.544G>A (p.Val182Met)
NM_000135.4(FANCA):c.545T>C (p.Val182Ala) rs2040743042
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.54C>T (p.Arg18=) rs1380627104
NM_000135.4(FANCA):c.552T>C (p.His184=) rs2143657286
NM_000135.4(FANCA):c.553C>G (p.Leu185Val) rs587778323
NM_000135.4(FANCA):c.555del (p.His186fs)
NM_000135.4(FANCA):c.558C>G (p.His186Gln) rs149159377
NM_000135.4(FANCA):c.558C>T (p.His186=) rs149159377
NM_000135.4(FANCA):c.559G>C (p.Val187Leu) rs761538996
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs) rs2143657184
NM_000135.4(FANCA):c.561A>G (p.Val187=) rs1050053060
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter) rs776471397
NM_000135.4(FANCA):c.564A>G (p.Gln188=) rs760287473
NM_000135.4(FANCA):c.565G>C (p.Gly189Arg) rs2143657111
NM_000135.4(FANCA):c.567C>G (p.Gly189=) rs2143657102
NM_000135.4(FANCA):c.569T>C (p.Ile190Thr)
NM_000135.4(FANCA):c.570T>C (p.Ile190=)
NM_000135.4(FANCA):c.573G>C (p.Val191=) rs2143657009
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
NM_000135.4(FANCA):c.575G>T (p.Ser192Ile) rs771439604
NM_000135.4(FANCA):c.577C>T (p.Leu193=) rs141861208
NM_000135.4(FANCA):c.579G>T (p.Leu193=)
NM_000135.4(FANCA):c.57G>A (p.Arg19=)
NM_000135.4(FANCA):c.581A>G (p.Gln194Arg)
NM_000135.4(FANCA):c.583G>A (p.Glu195Lys) rs2143656849
NM_000135.4(FANCA):c.586C>T (p.Leu196=) rs781718994
NM_000135.4(FANCA):c.588G>C (p.Leu196=)
NM_000135.4(FANCA):c.588G>T (p.Leu196=) rs2143656786
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro) rs886052488
NM_000135.4(FANCA):c.596+11A>G
NM_000135.4(FANCA):c.596+17G>A
NM_000135.4(FANCA):c.596+18A>G
NM_000135.4(FANCA):c.596+1G>A
NM_000135.4(FANCA):c.596+1G>C rs2143656696
NM_000135.4(FANCA):c.596+20T>G rs2143656568
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.596+548_793-219del
NM_000135.4(FANCA):c.596+6G>T rs369548513
NM_000135.4(FANCA):c.596+9C>T
NM_000135.4(FANCA):c.597-10G>A
NM_000135.4(FANCA):c.597-11T>G
NM_000135.4(FANCA):c.597-13T>G rs572176378
NM_000135.4(FANCA):c.597-14G>A
NM_000135.4(FANCA):c.597-14G>T
NM_000135.4(FANCA):c.597-14GT[3] rs751501568
NM_000135.4(FANCA):c.597-16C>G
NM_000135.4(FANCA):c.597-16C>T
NM_000135.4(FANCA):c.597-18C>A
NM_000135.4(FANCA):c.597-18C>T
NM_000135.4(FANCA):c.597-2A>G rs2040602804
NM_000135.4(FANCA):c.597-2A>T
NM_000135.4(FANCA):c.597-4C>G rs2143632540
NM_000135.4(FANCA):c.597-6C>T rs2143632553
NM_000135.4(FANCA):c.599A>G (p.His200Arg)
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys) rs928016876
NM_000135.4(FANCA):c.5C>T (p.Ser2Phe) rs928016876
NM_000135.4(FANCA):c.603C>G (p.Pro201=)
NM_000135.4(FANCA):c.605A>G (p.Asp202Gly)
NM_000135.4(FANCA):c.607A>G (p.Met203Val) rs2143632366
NM_000135.4(FANCA):c.60G>C (p.Arg20Ser)
NM_000135.4(FANCA):c.614C>G (p.Ala205Gly) rs777556447
NM_000135.4(FANCA):c.615T>A (p.Ala205=)
NM_000135.4(FANCA):c.616G>T (p.Val206Leu) rs2143632297
NM_000135.4(FANCA):c.617T>C (p.Val206Ala)
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp) rs144420697
NM_000135.4(FANCA):c.624G>T (p.Ser208=) rs922099383
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter) rs2143632171
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys) rs1018067067
NM_000135.4(FANCA):c.628C>G (p.Leu210Val) rs2143632135
NM_000135.4(FANCA):c.629T>G (p.Leu210Arg) rs2040601073
NM_000135.4(FANCA):c.631T>C (p.Phe211Leu)
NM_000135.4(FANCA):c.633C>T (p.Phe211=) rs1162376354
NM_000135.4(FANCA):c.63C>G (p.Ala21=)
NM_000135.4(FANCA):c.63C>T (p.Ala21=) rs973617998
NM_000135.4(FANCA):c.641T>G (p.Leu214Arg)
NM_000135.4(FANCA):c.642G>A (p.Leu214=)
NM_000135.4(FANCA):c.642G>T (p.Leu214=)
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
NM_000135.4(FANCA):c.643_644del (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.644G>A (p.Cys215Tyr)
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)
NM_000135.4(FANCA):c.647G>C (p.Cys216Ser) rs750011288
NM_000135.4(FANCA):c.649C>T (p.Leu217Phe)
NM_000135.4(FANCA):c.657A>G (p.Glu219=) rs761287924
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter) rs775697743
NM_000135.4(FANCA):c.659A>G (p.Gln220Arg)
NM_000135.4(FANCA):c.65G>C (p.Trp22Ser) rs761341952
NM_000135.4(FANCA):c.660G>A (p.Gln220=)
NM_000135.4(FANCA):c.663G>A (p.Met221Ile) rs1161493688
NM_000135.4(FANCA):c.664G>A (p.Glu222Lys) rs2040599267
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter) rs2040599267
NM_000135.4(FANCA):c.667G>C (p.Ala223Pro) rs771195871
NM_000135.4(FANCA):c.668C>T (p.Ala223Val) rs749362808
NM_000135.4(FANCA):c.66G>A (p.Trp22Ter) rs2041138210
NM_000135.4(FANCA):c.672C>G (p.Ser224=) rs2040598879
NM_000135.4(FANCA):c.674G>A (p.Cys225Tyr)
NM_000135.4(FANCA):c.679C>T (p.His227Tyr)
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly) rs1354884515
NM_000135.4(FANCA):c.68C>A (p.Ala23Asp)
NM_000135.4(FANCA):c.68C>G (p.Ala23Gly) rs776297241
NM_000135.4(FANCA):c.68C>T (p.Ala23Val) rs776297241
NM_000135.4(FANCA):c.690C>A (p.Val230=) rs942275917
NM_000135.4(FANCA):c.690C>T (p.Val230=) rs942275917
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr) rs746814384
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser) rs746814384
NM_000135.4(FANCA):c.69C>G (p.Ala23=) rs746429608
NM_000135.4(FANCA):c.6C>A (p.Ser2=) rs982258436
NM_000135.4(FANCA):c.6C>T (p.Ser2=) rs982258436
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe) rs1316244239
NM_000135.4(FANCA):c.709+10T>A rs2040596341
NM_000135.4(FANCA):c.709+11G>A
NM_000135.4(FANCA):c.709+12A>G
NM_000135.4(FANCA):c.709+13C>G
NM_000135.4(FANCA):c.709+13C>T rs763207362
NM_000135.4(FANCA):c.709+14A>C
NM_000135.4(FANCA):c.709+14A>G
NM_000135.4(FANCA):c.709+14_709+15del
NM_000135.4(FANCA):c.709+16G>C
NM_000135.4(FANCA):c.709+19G>A
NM_000135.4(FANCA):c.709+1G>A rs753211631
NM_000135.4(FANCA):c.709+1G>C rs753211631
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.709+8C>G rs2143631129
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter) rs1311396994
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-11T>C
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.710-15T>A
NM_000135.4(FANCA):c.710-16T>A
NM_000135.4(FANCA):c.710-16T>C rs2143616238
NM_000135.4(FANCA):c.710-1G>A
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.710-1G>T
NM_000135.4(FANCA):c.710-20_710-19del rs2040524550
NM_000135.4(FANCA):c.710-2A>G rs2040523467
NM_000135.4(FANCA):c.710-3C>A
NM_000135.4(FANCA):c.710-5T>C rs2040523640
NM_000135.4(FANCA):c.714dup (p.Val239fs)
NM_000135.4(FANCA):c.715G>A (p.Val239Ile)
NM_000135.4(FANCA):c.715G>C (p.Val239Leu)
NM_000135.4(FANCA):c.718C>G (p.Gln240Glu) rs1184639006
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.72G>A (p.Glu24=)
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter) rs868620166
NM_000135.4(FANCA):c.732G>C (p.Leu244Phe) rs2040522671
NM_000135.4(FANCA):c.735G>C (p.Arg245Ser)
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)
NM_000135.4(FANCA):c.737del (p.Gly246fs) rs2143615845
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys) rs760744752
NM_000135.4(FANCA):c.745A>G (p.Lys249Glu)
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter) rs878853666
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.757C>T (p.Leu253=)
NM_000135.4(FANCA):c.760A>C (p.Arg254=) rs770552398
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.765A>C (p.Arg255Ser) rs1025722534
NM_000135.4(FANCA):c.765A>G (p.Arg255=)
NM_000135.4(FANCA):c.766A>G (p.Thr256Ala) rs898767175
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn) rs377078635
NM_000135.4(FANCA):c.768T>C (p.Thr256=) rs1459779461
NM_000135.4(FANCA):c.768T>G (p.Thr256=)
NM_000135.4(FANCA):c.769G>T (p.Val257Leu) rs777311234
NM_000135.4(FANCA):c.76C>G (p.Leu26Val) rs2041137276
NM_000135.4(FANCA):c.76C>T (p.Leu26=) rs2041137276
NM_000135.4(FANCA):c.770_771del (p.Val257fs)
NM_000135.4(FANCA):c.774G>A (p.Glu258=)
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala) rs200988394
NM_000135.4(FANCA):c.775C>T (p.Pro259Ser)
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg) rs1598173112
NM_000135.4(FANCA):c.777T>A (p.Pro259=)
NM_000135.4(FANCA):c.779A>G (p.Glu260Gly)
NM_000135.4(FANCA):c.784del (p.Met262fs) rs2040520715
NM_000135.4(FANCA):c.788C>T (p.Pro263Leu)
NM_000135.4(FANCA):c.789G>A (p.Pro263=) rs34354932
NM_000135.4(FANCA):c.789G>T (p.Pro263=) rs34354932
NM_000135.4(FANCA):c.78G>A (p.Leu26=) rs1180368142
NM_000135.4(FANCA):c.79+13G>C
NM_000135.4(FANCA):c.79+14G>A
NM_000135.4(FANCA):c.79+15C>G
NM_000135.4(FANCA):c.79+15C>T
NM_000135.4(FANCA):c.79+16A>T
NM_000135.4(FANCA):c.79+17G>T rs2143730538
NM_000135.4(FANCA):c.79+19C>T
NM_000135.4(FANCA):c.79+1G>C rs1483028018
NM_000135.4(FANCA):c.79+20C>T
NM_000135.4(FANCA):c.79+21_79+43del
NM_000135.4(FANCA):c.79+4G>A rs2041136967
NM_000135.4(FANCA):c.79+4G>C rs2041136967
NM_000135.4(FANCA):c.79+6T>C
NM_000135.4(FANCA):c.79+9G>A rs2143730627
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.792+11A>G rs2143615222
NM_000135.4(FANCA):c.792+13G>A
NM_000135.4(FANCA):c.792+17_792+19del
NM_000135.4(FANCA):c.792+19T>C
NM_000135.4(FANCA):c.792+1G>A rs2143615250
NM_000135.4(FANCA):c.792+1G>C
NM_000135.4(FANCA):c.792+8G>C rs2143615230
NM_000135.4(FANCA):c.792G>A (p.Gln264=) rs2040520107
NM_000135.4(FANCA):c.793-10A>G rs368979136
NM_000135.4(FANCA):c.793-12C>T rs746312984
NM_000135.4(FANCA):c.793-16C>G
NM_000135.4(FANCA):c.793-16C>T rs2040372946
NM_000135.4(FANCA):c.793-16_793-15del
NM_000135.4(FANCA):c.793-18C>A rs776158574
NM_000135.4(FANCA):c.793-18C>G
NM_000135.4(FANCA):c.793-18C>T rs776158574
NM_000135.4(FANCA):c.793-1G>C rs1567642367
NM_000135.4(FANCA):c.793-2A>C rs2040372065
NM_000135.4(FANCA):c.793-2A>G
NM_000135.4(FANCA):c.793-2A>T
NM_000135.4(FANCA):c.793-5G>A
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.793-6T>C rs1159861002
NM_000135.4(FANCA):c.795_796inv (p.Thr266Ala)
NM_000135.4(FANCA):c.795_808del (p.Thr266fs) rs2040370883
NM_000135.4(FANCA):c.796_797delinsGA (p.Thr266Glu) rs2143585439
NM_000135.4(FANCA):c.798G>A (p.Thr266=) rs767444643
NM_000135.4(FANCA):c.798G>C (p.Thr266=)
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933
NM_000135.4(FANCA):c.80-10C>A rs771005210
NM_000135.4(FANCA):c.80-10C>G
NM_000135.4(FANCA):c.80-10C>T rs771005210
NM_000135.4(FANCA):c.80-13C>G
NM_000135.4(FANCA):c.80-15G>A
NM_000135.4(FANCA):c.80-16C>G
NM_000135.4(FANCA):c.80-16C>T
NM_000135.4(FANCA):c.80-1G>T rs751076878
NM_000135.4(FANCA):c.80-2A>G
NM_000135.4(FANCA):c.80-4G>A rs747881254
NM_000135.4(FANCA):c.80-5C>G
NM_000135.4(FANCA):c.80-6C>G rs981258320
NM_000135.4(FANCA):c.80-8C>G rs749080227
NM_000135.4(FANCA):c.80-99_105del
NM_000135.4(FANCA):c.800_801dup (p.Asp268fs) rs2143585362
NM_000135.4(FANCA):c.804T>C (p.Asp268=)
NM_000135.4(FANCA):c.805G>A (p.Val269Ile) rs1555566973
NM_000135.4(FANCA):c.806_807del (p.Val269fs)
NM_000135.4(FANCA):c.807A>G (p.Val269=)
NM_000135.4(FANCA):c.808C>T (p.Leu270=)
NM_000135.4(FANCA):c.80C>T (p.Ala27Val)
NM_000135.4(FANCA):c.813G>C (p.Gln271His) rs773057753
NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter)
NM_000135.4(FANCA):c.820C>T (p.Leu274=) rs2040370137
NM_000135.4(FANCA):c.825T>A (p.Ile275=)
NM_000135.4(FANCA):c.826+10T>C rs536052530
NM_000135.4(FANCA):c.826+11T>G
NM_000135.4(FANCA):c.826+14A>G
NM_000135.4(FANCA):c.826+15C>G
NM_000135.4(FANCA):c.826+15C>T
NM_000135.4(FANCA):c.826+17G>A
NM_000135.4(FANCA):c.826+17G>T
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4(FANCA):c.826+4A>G
NM_000135.4(FANCA):c.826+4del rs2040369776
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_000135.4(FANCA):c.826+8A>G rs774666675
NM_000135.4(FANCA):c.826+9A>G rs2143584994
NM_000135.4(FANCA):c.826+9A>T rs2143584994
NM_000135.4(FANCA):c.827-10_827-9del rs1419817251
NM_000135.4(FANCA):c.827-10dup
NM_000135.4(FANCA):c.827-11T>C
NM_000135.4(FANCA):c.827-11T>G
NM_000135.4(FANCA):c.827-12C>T
NM_000135.4(FANCA):c.827-1G>A
NM_000135.4(FANCA):c.827-1G>C rs753728435
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.827-20G>T
NM_000135.4(FANCA):c.827-2A>G rs2040355782
NM_000135.4(FANCA):c.827-3C>T
NM_000135.4(FANCA):c.827-4T>G
NM_000135.4(FANCA):c.827-5T>C rs751311949
NM_000135.4(FANCA):c.827-6C>T rs756991336
NM_000135.4(FANCA):c.827-7T>G rs370344285
NM_000135.4(FANCA):c.827-9T>C rs2143581941
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000135.4(FANCA):c.830C>T (p.Ala277Val) rs35880318
NM_000135.4(FANCA):c.831_848dup (p.Leu278_Ala283dup) rs761967813
NM_000135.4(FANCA):c.834T>C (p.Leu278=)
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr) rs1555566625
NM_000135.4(FANCA):c.837C>A (p.Asp279Glu) rs752311383
NM_000135.4(FANCA):c.83del (p.Gly28fs)
NM_000135.4(FANCA):c.843G>A (p.Leu281=)
NM_000135.4(FANCA):c.843G>C (p.Leu281Phe) rs2143581630
NM_000135.4(FANCA):c.844_845delinsTA (p.Ala282Tyr) rs2143581602
NM_000135.4(FANCA):c.848C>G (p.Ala283Gly) rs770479721
NM_000135.4(FANCA):c.84_87del (p.Arg29fs)
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala) rs762079136
NM_000135.4(FANCA):c.851dup (p.Val285fs) rs1369685302
NM_000135.4(FANCA):c.856C>G (p.Gln286Glu) rs1291524243
NM_000135.4(FANCA):c.85A>C (p.Arg29=) rs2143724622
NM_000135.4(FANCA):c.861G>A (p.Glu287=) rs2143581361
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.867C>T (p.Ser289=) rs1463784702
NM_000135.4(FANCA):c.869C>G (p.Ser290Cys) rs185984960
NM_000135.4(FANCA):c.869C>T (p.Ser290Phe) rs185984960
NM_000135.4(FANCA):c.86G>T (p.Arg29Met) rs764561391
NM_000135.4(FANCA):c.871A>G (p.Thr291Ala)
NM_000135.4(FANCA):c.874C>T (p.His292Tyr)
NM_000135.4(FANCA):c.876C>T (p.His292=) rs527897404
NM_000135.4(FANCA):c.877A>G (p.Lys293Glu)
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr) rs1555566545
NM_000135.4(FANCA):c.882C>T (p.Ile294=) rs754520622
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr) rs878853667
NM_000135.4(FANCA):c.88G>T (p.Val30Phe) rs1160471115
NM_000135.4(FANCA):c.88del (p.Val30fs) rs2041101804
NM_000135.4(FANCA):c.891_893+1del rs2040352874
NM_000135.4(FANCA):c.892T>C (p.Trp298Arg) rs2040352921
NM_000135.4(FANCA):c.893+11G>A
NM_000135.4(FANCA):c.893+11G>C
NM_000135.4(FANCA):c.893+11G>T
NM_000135.4(FANCA):c.893+16T>C
NM_000135.4(FANCA):c.893+1G>C
NM_000135.4(FANCA):c.893+1G>T rs2040352832
NM_000135.4(FANCA):c.893+20C>A
NM_000135.4(FANCA):c.893+4T>C rs2143580838
NM_000135.4(FANCA):c.893+4T>G rs2143580838
NM_000135.4(FANCA):c.893+8C>G
NM_000135.4(FANCA):c.893+8C>T
NM_000135.4(FANCA):c.893+920C>A rs1174586234
NM_000135.4(FANCA):c.894-1137_1359+1837del
NM_000135.4(FANCA):c.894-15C>G
NM_000135.4(FANCA):c.894-16T>A
NM_000135.4(FANCA):c.894-16T>C
NM_000135.4(FANCA):c.894-19C>G
NM_000135.4(FANCA):c.894-19C>T
NM_000135.4(FANCA):c.894-1G>A rs2040234338
NM_000135.4(FANCA):c.894-3C>G rs2040234388
NM_000135.4(FANCA):c.894-3C>T rs2040234388
NM_000135.4(FANCA):c.894-4G>T rs1275962279
NM_000135.4(FANCA):c.894-8A>C rs11648881
NM_000135.4(FANCA):c.894G>T (p.Trp298Cys)
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
NM_000135.4(FANCA):c.896_897delinsCT (p.Phe299Ser) rs2040234249
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu) rs765341703
NM_000135.4(FANCA):c.897del (p.Phe299fs)
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg) rs1467900630
NM_000135.4(FANCA):c.8_28dup (p.Asp3_Ser9dup) rs2143731691
NM_000135.4(FANCA):c.901G>A (p.Val301Met) rs201134867
NM_000135.4(FANCA):c.901G>C (p.Val301Leu)
NM_000135.4(FANCA):c.903G>A (p.Val301=)
NM_000135.4(FANCA):c.909T>C (p.Ser303=) rs2143558882
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu) rs745451374
NM_000135.4(FANCA):c.915C>T (p.His305=)
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.916dup (p.Thr306fs)
NM_000135.4(FANCA):c.917C>A (p.Thr306Lys) rs370852532
NM_000135.4(FANCA):c.917C>G (p.Thr306Arg) rs370852532
NM_000135.4(FANCA):c.919C>A (p.Leu307Ile)
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter) rs2041101553
NM_000135.4(FANCA):c.923G>A (p.Gly308Asp) rs1441102361
NM_000135.4(FANCA):c.924C>A (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.927T>G (p.Ser309Arg)
NM_000135.4(FANCA):c.930A>G (p.Val310=)
NM_000135.4(FANCA):c.933_936delinsCT (p.Ser312fs) rs2040232900
NM_000135.4(FANCA):c.93G>A (p.Lys31=) rs759630319
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn) rs759630319
NM_000135.4(FANCA):c.943C>A (p.Pro315Thr)
NM_000135.4(FANCA):c.945T>C (p.Pro315=) rs760583815
NM_000135.4(FANCA):c.948G>A (p.Leu316=) rs767146506
NM_000135.4(FANCA):c.948G>C (p.Leu316=)
NM_000135.4(FANCA):c.94del (p.Arg32fs)
NM_000135.4(FANCA):c.954G>A (p.Arg318=)
NM_000135.4(FANCA):c.957C>T (p.Phe319=) rs17226068
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr) rs770984577
NM_000135.4(FANCA):c.960C>T (p.Phe320=)
NM_000135.4(FANCA):c.961A>G (p.Ser321Gly)
NM_000135.4(FANCA):c.962G>A (p.Ser321Asn)
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.970C>T (p.Leu324=) rs1484944856
NM_000135.4(FANCA):c.971T>C (p.Leu324Pro)
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.972del (p.Thr325fs)
NM_000135.4(FANCA):c.976C>G (p.Gln326Glu)
NM_000135.4(FANCA):c.978_979del (p.Gln326fs) rs2040231133
NM_000135.4(FANCA):c.97G>A (p.Glu33Lys) rs2041101017
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.980T>A (p.Ile327Lys) rs2143558288
NM_000135.4(FANCA):c.985dup (p.Thr329fs)
NM_000135.4(FANCA):c.986C>T (p.Thr329Ile) rs757617469
NM_000135.4(FANCA):c.987T>A (p.Thr329=)
NM_000135.4(FANCA):c.987T>C (p.Thr329=) rs1045997042
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000135.4(FANCA):c.988C>G (p.His330Asp) rs753951882
NM_000135.4(FANCA):c.989_995del (p.His330fs) rs1555564451
NM_000135.4(FANCA):c.98A>G (p.Glu33Gly)
NM_000135.4(FANCA):c.993C>T (p.Ser331=)
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr) rs1056497675
NM_000135.4(FANCA):c.994C>T (p.Pro332Ser)
NM_000135.4(FANCA):c.999G>A (p.Val333=) rs1358267888
NM_000135.4(FANCA):c.999G>C (p.Val333=) rs1358267888
NM_000135.4(FANCA):c.999G>T (p.Val333=)
NM_000135.4(FANCA):c.9C>T (p.Asp3=)
NM_000135.4:c.1019_*580del
NM_000135.4:c.1471_2853del
NM_000135.4:c.1626_2602del
NM_000135.4:c.1901_3240del
NM_000135.4:c.284_1627del
NM_000135.4:c.2853_*580del
NM_000135.4:c.710_894del
NM_000135.4:c.874_2982del
NM_000135.4:c.894_2015del
NM_000136.2(FANCC):c.-262-4937_-79+3379del
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.*1059A>T rs1044866059
NM_000136.3(FANCC):c.*1096T>C rs111688138
NM_000136.3(FANCC):c.*1276C>A rs1057515698
NM_000136.3(FANCC):c.*1359C>G rs1009336483
NM_000136.3(FANCC):c.*1515C>T rs2071028910
NM_000136.3(FANCC):c.*1662C>T rs4647556
NM_000136.3(FANCC):c.*1727T>A rs4647557
NM_000136.3(FANCC):c.*1727T>C rs4647557
NM_000136.3(FANCC):c.*1895T>G rs56161090
NM_000136.3(FANCC):c.*2164G>A rs566582636
NM_000136.3(FANCC):c.*2164G>T rs566582636
NM_000136.3(FANCC):c.*338C>A rs920400068
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.*516T>G rs1004604171
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715AGTT[2] rs56250966
NM_000136.3(FANCC):c.*825C>A rs1057515700
NM_000136.3(FANCC):c.-14del rs2136102536
NM_000136.3(FANCC):c.-172G>T rs1057515706
NM_000136.3(FANCC):c.-18C>A rs762660689
NM_000136.3(FANCC):c.-19C>A rs772475410
NM_000136.3(FANCC):c.-19C>T
NM_000136.3(FANCC):c.-21C>G rs1017979233
NM_000136.3(FANCC):c.-21C>T rs1017979233
NM_000136.3(FANCC):c.-262_-79+3686del
NM_000136.3(FANCC):c.-33G>A rs2136102765
NM_000136.3(FANCC):c.-34T>C rs2136102771
NM_000136.3(FANCC):c.-36G>A rs1226649340
NM_000136.3(FANCC):c.-44G>A rs2136102852
NM_000136.3(FANCC):c.-49T>C rs2136102893
NM_000136.3(FANCC):c.-52C>T rs2136102913
NM_000136.3(FANCC):c.-59T>C
NM_000136.3(FANCC):c.-62C>G rs1688044477
NM_000136.3(FANCC):c.-65C>G rs371725430
NM_000136.3(FANCC):c.-66C>T rs1057524245
NM_000136.3(FANCC):c.-69G>A rs1588354162
NM_000136.3(FANCC):c.-73A>G rs1831191027
NM_000136.3(FANCC):c.-73A>T rs1831191027
NM_000136.3(FANCC):c.-78-1G>C rs2136103070
NM_000136.3(FANCC):c.-78-2A>G rs587779898
NM_000136.3(FANCC):c.-78-3C>A
NM_000136.3(FANCC):c.-78-5del rs2136103100
NM_000136.3(FANCC):c.-78-9T>C rs2136103120
NM_000136.3(FANCC):c.-79+1del
NM_000136.3(FANCC):c.-79+2dup rs2136457021
NM_000136.3(FANCC):c.-79+6C>T rs2136456999
NM_000136.3(FANCC):c.-79+7G>A rs551170090
NM_000136.3(FANCC):c.-79+7G>C rs551170090
NM_000136.3(FANCC):c.-79+8_-79+18del rs2136456958
NM_000136.3(FANCC):c.-79+98A>G rs1408056644
NM_000136.3(FANCC):c.-8T>C
NM_000136.3(FANCC):c.1002del (p.Phe335fs) rs2134694075
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser) rs78555330
NM_000136.3(FANCC):c.1008A>C (p.Ala336=)
NM_000136.3(FANCC):c.1008A>G (p.Ala336=) rs1588070906
NM_000136.3(FANCC):c.1009C>G (p.Leu337Val)
NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe) rs587779899
NM_000136.3(FANCC):c.1014G>A (p.Lys338=) rs780776360
NM_000136.3(FANCC):c.1017C>A (p.Thr339=) rs754772354
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1023T>G (p.Phe341Leu) rs758439579
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter) rs2072504418
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)
NM_000136.3(FANCC):c.1029C>T (p.Tyr343=) rs2072504418
NM_000136.3(FANCC):c.102C>G (p.Thr34=) rs2136101018
NM_000136.3(FANCC):c.1032T>C (p.Thr344=) rs2134693062
NM_000136.3(FANCC):c.1034C>T (p.Ser345Phe) rs1348320350
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.104G>A (p.Cys35Tyr) rs143212932
NM_000136.3(FANCC):c.1053G>A (p.Val351=) rs1301137678
NM_000136.3(FANCC):c.1057C>T (p.Leu353=)
NM_000136.3(FANCC):c.1059G>A (p.Leu353=) rs1588070620
NM_000136.3(FANCC):c.1059G>T (p.Leu353=) rs1588070620
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) rs1588070592
NM_000136.3(FANCC):c.1067C>A (p.Pro356His) rs1060502517
NM_000136.3(FANCC):c.1068T>A (p.Pro356=)
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1071A>G (p.Gln357=) rs1057522128
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1072+20G>A rs773767586
NM_000136.3(FANCC):c.1072+2T>A
NM_000136.3(FANCC):c.1072+3G>C rs2134691883
NM_000136.3(FANCC):c.1072+5G>A
NM_000136.3(FANCC):c.1072+9G>A rs2072499164
NM_000136.3(FANCC):c.1073-10C>T rs2134632915
NM_000136.3(FANCC):c.1073-15T>G
NM_000136.3(FANCC):c.1073-18A>C rs876661081
NM_000136.3(FANCC):c.1073-19T>C
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1073-6C>T
NM_000136.3(FANCC):c.1073-9C>T
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg) rs730881721
NM_000136.3(FANCC):c.1080T>G (p.Pro360=)
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp) rs768508859
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter) rs2072245226
NM_000136.3(FANCC):c.1085G>T (p.Gly362Val) rs1246894660
NM_000136.3(FANCC):c.1086A>G (p.Gly362=) rs2134632077
NM_000136.3(FANCC):c.1087C>G (p.His363Asp) rs2134632030
NM_000136.3(FANCC):c.1088A>G (p.His363Arg) rs2072244970
NM_000136.3(FANCC):c.1089C>T (p.His363=) rs2134631925
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe) rs1060502514
NM_000136.3(FANCC):c.1095C>G (p.Leu365=) rs1057521687
NM_000136.3(FANCC):c.1095C>T (p.Leu365=) rs1057521687
NM_000136.3(FANCC):c.1098G>A (p.Gln366=) rs1564652354
NM_000136.3(FANCC):c.1098G>C (p.Gln366His) rs1564652354
NM_000136.3(FANCC):c.1101A>C (p.Thr367=)
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1104G>T (p.Leu368=)
NM_000136.3(FANCC):c.1106del (p.Lys369fs)
NM_000136.3(FANCC):c.1107G>A (p.Lys369=) rs1321399501
NM_000136.3(FANCC):c.110A>C (p.His37Pro) rs1564794663
NM_000136.3(FANCC):c.1112T>C (p.Ile371Thr) rs2072242960
NM_000136.3(FANCC):c.1125C>G (p.Leu375=) rs2134631148
NM_000136.3(FANCC):c.1126A>C (p.Arg376=)
NM_000136.3(FANCC):c.1129G>A (p.Glu377Lys) rs1588060425
NM_000136.3(FANCC):c.112G>C (p.Val38Leu) rs778951584
NM_000136.3(FANCC):c.1131A>C (p.Glu377Asp) rs2134631019
NM_000136.3(FANCC):c.1132G>A (p.Ala378Thr) rs2134630989
NM_000136.3(FANCC):c.1134A>T (p.Ala378=)
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala) rs745693332
NM_000136.3(FANCC):c.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1148C>T (p.Thr383Ile)
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1154+11A>G
NM_000136.3(FANCC):c.1154+12C>T
NM_000136.3(FANCC):c.1154+13T>G
NM_000136.3(FANCC):c.1154+14G>A rs751776859
NM_000136.3(FANCC):c.1154+17C>T rs1356928463
NM_000136.3(FANCC):c.1154+19C>T
NM_000136.3(FANCC):c.1154+1del
NM_000136.3(FANCC):c.1154+20T>G
NM_000136.3(FANCC):c.1154+2dup rs1386979449
NM_000136.3(FANCC):c.1154+8A>G rs2134630249
NM_000136.3(FANCC):c.1154+9A>G
NM_000136.3(FANCC):c.1154G>A (p.Gly385Glu)
NM_000136.3(FANCC):c.1155-12C>T
NM_000136.3(FANCC):c.1155-13G>A
NM_000136.3(FANCC):c.1155-13G>C rs747142087
NM_000136.3(FANCC):c.1155-14T>G rs2134552606
NM_000136.3(FANCC):c.1155-18G>C
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1155-2A>G rs1343170313
NM_000136.3(FANCC):c.1155-7G>A
NM_000136.3(FANCC):c.1155-7G>C rs2071943921
NM_000136.3(FANCC):c.1155-8del rs2071944189
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg) rs371897078
NM_000136.3(FANCC):c.1166G>A (p.Gly389Asp) rs2071942181
NM_000136.3(FANCC):c.1170C>G (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1170C>T (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117T>G (p.Ala39=)
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter) rs2134551203
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
NM_000136.3(FANCC):c.1188G>A (p.Leu396=) rs2134551050
NM_000136.3(FANCC):c.1191C>T (p.Phe397=)
NM_000136.3(FANCC):c.1194T>G (p.Ile398Met) rs752274299
NM_000136.3(FANCC):c.1198T>G (p.Phe400Val) rs1480679034
NM_000136.3(FANCC):c.1199del (p.Phe400fs) rs2134550787
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)
NM_000136.3(FANCC):c.120G>A (p.Gln40=) rs905858585
NM_000136.3(FANCC):c.120G>C (p.Gln40His) rs905858585
NM_000136.3(FANCC):c.1212T>C (p.Ala404=) rs2134550393
NM_000136.3(FANCC):c.1217T>C (p.Met406Thr) rs1159499581
NM_000136.3(FANCC):c.1218G>C (p.Met406Ile) rs766086120
NM_000136.3(FANCC):c.1225G>A (p.Glu409Lys) rs1209529082
NM_000136.3(FANCC):c.1227G>A (p.Glu409=) rs2134549988
NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)
NM_000136.3(FANCC):c.1234C>T (p.Leu412=)
NM_000136.3(FANCC):c.1235T>C (p.Leu412Pro)
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.1243G>A (p.Ala415Thr)
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu) rs550462055
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.3(FANCC):c.1248C>G (p.Ala416=) rs747051975
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
NM_000136.3(FANCC):c.1252_1253delinsGA (p.Pro418Asp) rs1064795135
NM_000136.3(FANCC):c.1254C>T (p.Pro418=) rs1057521431
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg) rs864622514
NM_000136.3(FANCC):c.1257C>A (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1257C>G (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
NM_000136.3(FANCC):c.1260G>A (p.Thr420=) rs749709412
NM_000136.3(FANCC):c.1260G>T (p.Thr420=)
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met) rs756716463
NM_000136.3(FANCC):c.1264C>T (p.Leu422=) rs756716463
NM_000136.3(FANCC):c.126G>A (p.Gln42=) rs1831173438
NM_000136.3(FANCC):c.1270T>G (p.Trp424Gly)
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter) rs2134548133
NM_000136.3(FANCC):c.1274T>C (p.Leu425Pro) rs1588047966
NM_000136.3(FANCC):c.1275C>T (p.Leu425=)
NM_000136.3(FANCC):c.1283T>G (p.Phe428Cys) rs2134547742
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del) rs1588047930
NM_000136.3(FANCC):c.1285TAC[1] (p.Tyr430del) rs1210997135
NM_000136.3(FANCC):c.1285_1297del (p.Tyr429fs)
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1293C>A (p.Gly431=) rs1330163328
NM_000136.3(FANCC):c.1294C>T (p.Pro432Ser) rs2134547266
NM_000136.3(FANCC):c.1297C>A (p.Arg433Ser) rs369684405
NM_000136.3(FANCC):c.1299T>G (p.Arg433=) rs2134547152
NM_000136.3(FANCC):c.129G>A (p.Glu43=) rs1246204881
NM_000136.3(FANCC):c.129_142del (p.Glu43fs)
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs) rs1588353886
NM_000136.3(FANCC):c.1300G>A (p.Asp434Asn) rs864622522
NM_000136.3(FANCC):c.1300G>C (p.Asp434His)
NM_000136.3(FANCC):c.1301A>G (p.Asp434Gly) rs2134547041
NM_000136.3(FANCC):c.1307G>A (p.Arg436Lys) rs201549126
NM_000136.3(FANCC):c.1308G>A (p.Arg436=)
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
NM_000136.3(FANCC):c.1311G>A (p.Gln437=) rs1588047742
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser) rs1588353402
NM_000136.3(FANCC):c.1321_1322del (p.Gln441fs) rs2071928804
NM_000136.3(FANCC):c.1327_1328del (p.Met443fs) rs2134546063
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+115C>T rs2071912393
NM_000136.3(FANCC):c.1329+11G>A
NM_000136.3(FANCC):c.1329+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+15C>T
NM_000136.3(FANCC):c.1329+166_1329+168del rs1554829374
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+16C>T
NM_000136.3(FANCC):c.1329+16del
NM_000136.3(FANCC):c.1329+181_1329+183del rs587778328
NM_000136.3(FANCC):c.1329+18C>T
NM_000136.3(FANCC):c.1329+1del
NM_000136.3(FANCC):c.1329+246del rs542091036
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
NM_000136.3(FANCC):c.1329+5del rs878853670
NM_000136.3(FANCC):c.1329G>A (p.Met443Ile) rs772133680
NM_000136.3(FANCC):c.132C>T (p.Phe44=) rs2136100617
NM_000136.3(FANCC):c.1330-10T>C rs1386511892
NM_000136.3(FANCC):c.1330-12_1330-8del
NM_000136.3(FANCC):c.1330-13T>A
NM_000136.3(FANCC):c.1330-13T>C
NM_000136.3(FANCC):c.1330-19_1330-10del rs1389222142
NM_000136.3(FANCC):c.1330-2A>C rs2134456820
NM_000136.3(FANCC):c.1330-2A>G
NM_000136.3(FANCC):c.1330-7T>C
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile) rs1554828492
NM_000136.3(FANCC):c.1332C>T (p.Val444=)
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.133C>T (p.Leu45=) rs1588353394
NM_000136.3(FANCC):c.1346T>C (p.Val449Ala) rs2134456617
NM_000136.3(FANCC):c.134T>G (p.Leu45Arg) rs2136100589
NM_000136.3(FANCC):c.1351_1352del (p.Gly451fs)
NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis) rs1064793615
NM_000136.3(FANCC):c.1357C>T (p.Leu453Phe) rs1064793901
NM_000136.3(FANCC):c.1358T>C (p.Leu453Pro)
NM_000136.3(FANCC):c.1359C>T (p.Leu453=)
NM_000136.3(FANCC):c.135A>G (p.Leu45=)
NM_000136.3(FANCC):c.1361T>C (p.Leu454Pro) rs1554828451
NM_000136.3(FANCC):c.1364C>T (p.Ala455Val) rs2071516903
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile) rs863224609
NM_000136.3(FANCC):c.1371C>G (p.Ser457=) rs2134456187
NM_000136.3(FANCC):c.1371C>T (p.Ser457=) rs2134456187
NM_000136.3(FANCC):c.1375A>G (p.Ser459Gly)
NM_000136.3(FANCC):c.1377C>T (p.Ser459=)
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs) rs2134456127
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1388C>T (p.Ser463Leu) rs1588029402
NM_000136.3(FANCC):c.1389A>G (p.Ser463=)
NM_000136.3(FANCC):c.138G>A (p.Arg46=) rs1057521212
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1395G>A (p.Gln465=)
NM_000136.3(FANCC):c.1399C>G (p.Leu467Val) rs1554828405
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter) rs1831172189
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr) rs1588353368
NM_000136.3(FANCC):c.140A>G (p.Lys47Arg) rs1588353368
NM_000136.3(FANCC):c.140_143dup (p.Met48fs) rs1831171802
NM_000136.3(FANCC):c.1418A>G (p.Gln473Arg) rs1588029264
NM_000136.3(FANCC):c.141G>T (p.Lys47Asn)
NM_000136.3(FANCC):c.1427A>G (p.Asp476Gly) rs1375711161
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs) rs1588029220
NM_000136.3(FANCC):c.1437C>G (p.Leu479=)
NM_000136.3(FANCC):c.1440A>G (p.Arg480=) rs757477758
NM_000136.3(FANCC):c.1440dup (p.Ala481fs) rs2071512726
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) rs773270231
NM_000136.3(FANCC):c.1446T>C (p.Pro482=) rs754079401
NM_000136.3(FANCC):c.1450C>A (p.Gln484Lys) rs764271678
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
NM_000136.3(FANCC):c.1455G>A (p.Gln485=) rs2134455295
NM_000136.3(FANCC):c.1456C>A (p.Leu486Met)
NM_000136.3(FANCC):c.1457T>C (p.Leu486Pro) rs753031127
NM_000136.3(FANCC):c.1458G>C (p.Leu486=) rs1588029111
NM_000136.3(FANCC):c.1458G>T (p.Leu486=) rs1588029111
NM_000136.3(FANCC):c.1461C>G (p.Ile487Met) rs2134455188
NM_000136.3(FANCC):c.1464G>A (p.Arg488=)
NM_000136.3(FANCC):c.1467C>T (p.His489=) rs1554828385
NM_000136.3(FANCC):c.1471C>G (p.Leu491Val)
NM_000136.3(FANCC):c.1471CTC[1] (p.Leu492del) rs2071510744
NM_000136.3(FANCC):c.1473C>T (p.Leu491=)
NM_000136.3(FANCC):c.1478A>G (p.Asn493Ser)
NM_000136.3(FANCC):c.147T>C (p.Tyr49=) rs1462121358
NM_000136.3(FANCC):c.1483C>T (p.Leu495=) rs2134454968
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1485G>C (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1486C>T (p.Leu496Phe)
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1488C>T (p.Leu496=) rs1057520505
NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter) rs762501862
NM_000136.3(FANCC):c.1494T>G (p.Ala498=) rs76895298
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1497T>C (p.Pro499=)
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) rs1057516963
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu) rs1831182314
NM_000136.3(FANCC):c.1501G>A (p.Gly501Ser) rs746540247
NM_000136.3(FANCC):c.1502G>A (p.Gly501Asp) rs536599109
NM_000136.3(FANCC):c.1502G>T (p.Gly501Val) rs536599109
NM_000136.3(FANCC):c.1503C>T (p.Gly501=) rs2134454633
NM_000136.3(FANCC):c.1504C>T (p.His502Tyr)
NM_000136.3(FANCC):c.1513G>T (p.Ala505Ser) rs780179187
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys) rs1554828332
NM_000136.3(FANCC):c.1520A>T (p.Asp507Val)
NM_000136.3(FANCC):c.1524C>T (p.Val508=) rs765766432
NM_000136.3(FANCC):c.1527C>T (p.Ile509=) rs1554828322
NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn) rs1233501553
NM_000136.3(FANCC):c.1530C>G (p.Thr510=) rs372199352
NM_000136.3(FANCC):c.1531C>T (p.Leu511=) rs1588028784
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro) rs1554828313
NM_000136.3(FANCC):c.1533+11C>T
NM_000136.3(FANCC):c.1533+12del
NM_000136.3(FANCC):c.1533+17T>C
NM_000136.3(FANCC):c.1533+1G>A
NM_000136.3(FANCC):c.1533+1G>T rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1533+5G>A rs1588028749
NM_000136.3(FANCC):c.1533+6T>A rs2071505631
NM_000136.3(FANCC):c.1533+7C>A
NM_000136.3(FANCC):c.1533+7C>T
NM_000136.3(FANCC):c.1533+8T>C rs2134454126
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1533G>C (p.Leu511=) rs2071506268
NM_000136.3(FANCC):c.1534-10C>G rs1356632872
NM_000136.3(FANCC):c.1534-13G>T
NM_000136.3(FANCC):c.1534-15C>T
NM_000136.3(FANCC):c.1534-17T>C
NM_000136.3(FANCC):c.1534-19T>C
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.1534-2A>G rs1554827166
NM_000136.3(FANCC):c.1534-5T>C rs730881727
NM_000136.3(FANCC):c.1534-5T>G rs730881727
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.1534-8G>A rs2071090579
NM_000136.3(FANCC):c.1534-8G>T rs2071090579
NM_000136.3(FANCC):c.1539T>C (p.Ala513=) rs2134383837
NM_000136.3(FANCC):c.1542C>G (p.His514Gln)
NM_000136.3(FANCC):c.1546G>A (p.Ala516Thr)
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1550dup (p.Ile518fs) rs2071089000
NM_000136.3(FANCC):c.1551G>C (p.Glu517Asp) rs1588008452
NM_000136.3(FANCC):c.1551_1552del (p.Glu517fs)
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1560C>G (p.His520Gln) rs150020474
NM_000136.3(FANCC):c.1563G>C (p.Glu521Asp) rs2071088182
NM_000136.3(FANCC):c.1563dup (p.Ile522fs)
NM_000136.3(FANCC):c.156G>A (p.Leu52=) rs1060502518
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe) rs1060502518
NM_000136.3(FANCC):c.1572C>A (p.Gly524=)
NM_000136.3(FANCC):c.1572C>T (p.Gly524=) rs2134383478
NM_000136.3(FANCC):c.1573T>C (p.Phe525Leu) rs971409322
NM_000136.3(FANCC):c.1578T>A (p.Leu526=)
NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter)
NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro) rs587778326
NM_000136.3(FANCC):c.1587C>G (p.Thr529=) rs1015147630
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1596A>G (p.Arg532=) rs1588008241
NM_000136.3(FANCC):c.1597T>G (p.Trp533Gly) rs730881728
NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter) rs2071086256
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.15A>T (p.Ser5=)
NM_000136.3(FANCC):c.1602T>C (p.Asn534=)
NM_000136.3(FANCC):c.1608T>C (p.Leu536=)
NM_000136.3(FANCC):c.1609G>T (p.Gly537Cys)
NM_000136.3(FANCC):c.1610G>T (p.Gly537Val)
NM_000136.3(FANCC):c.1615G>A (p.Glu539Lys) rs2071085287
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg) rs1588008112
NM_000136.3(FANCC):c.1620C>T (p.Ser540=)
NM_000136.3(FANCC):c.1621C>T (p.Pro541Ser) rs2071084988
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys) rs1588008066
NM_000136.3(FANCC):c.1626A>G (p.Arg542=)
NM_000136.3(FANCC):c.1627T>C (p.Ser543Pro) rs1303872874
NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys) rs864622417
NM_000136.3(FANCC):c.1628C>T (p.Ser543Leu)
NM_000136.3(FANCC):c.1629A>G (p.Ser543=) rs1352980665
NM_000136.3(FANCC):c.162G>A (p.Glu54=)
NM_000136.3(FANCC):c.1630_1631insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTANNNNNNNNNNAAAAAAAAAAGAAAGCCCTAGATCAG (p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer) rs2134382573
NM_000136.3(FANCC):c.1631A>G (p.Glu544Gly)
NM_000136.3(FANCC):c.1636C>G (p.Leu546Val) rs2071083777
NM_000136.3(FANCC):c.1638G>A (p.Leu546=) rs1429537932
NM_000136.3(FANCC):c.163del (p.Met55fs)
NM_000136.3(FANCC):c.1640C>T (p.Ala547Val) rs2071083482
NM_000136.3(FANCC):c.1641_1658dup (p.Lys552_Glu553insAspArgGluLeuLeuLys) rs1588007941
NM_000136.3(FANCC):c.1643G>T (p.Arg548Leu)
NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)
NM_000136.3(FANCC):c.164T>C (p.Met55Thr) rs1060502513
NM_000136.3(FANCC):c.165+11G>C rs1588353233
NM_000136.3(FANCC):c.165+14C>A
NM_000136.3(FANCC):c.165+14C>T
NM_000136.3(FANCC):c.165+15A>G
NM_000136.3(FANCC):c.165+17A>C
NM_000136.3(FANCC):c.165+18A>C
NM_000136.3(FANCC):c.165+18A>G
NM_000136.3(FANCC):c.165+1G>A
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.165+5G>T
NM_000136.3(FANCC):c.165+9T>A rs1326163629
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter) rs2134382250
NM_000136.3(FANCC):c.1654A>C (p.Lys552Gln) rs2071082816
NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg) rs1197938479
NM_000136.3(FANCC):c.1655_1658dup (p.Leu554fs)
NM_000136.3(FANCC):c.166-10T>C rs2136091541
NM_000136.3(FANCC):c.166-20A>G
NM_000136.3(FANCC):c.166-3C>T rs1554857868
NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT
NM_000136.3(FANCC):c.166-6T>C rs1254372586
NM_000136.3(FANCC):c.166-9C>T rs372507085
NM_000136.3(FANCC):c.1663C>A (p.Arg555=) rs370974124
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.1668T>C (p.Thr556=)
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu) rs863224610
NM_000136.3(FANCC):c.166G>T (p.Asp56Tyr)
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.167A>T (p.Asp56Val) rs759662786
NM_000136.3(FANCC):c.169T>G (p.Ser57Ala)
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.16_23del (p.Val6fs)
NM_000136.3(FANCC):c.173A>G (p.Asn58Ser) rs1831061339
NM_000136.3(FANCC):c.177A>T (p.Thr59=)
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) rs527289778
NM_000136.3(FANCC):c.17T>G (p.Val6Gly) rs527289778
NM_000136.3(FANCC):c.188G>C (p.Arg63Thr) rs1588350373
NM_000136.3(FANCC):c.189A>T (p.Arg63Ser) rs773388565
NM_000136.3(FANCC):c.197C>T (p.Thr66Ile) rs762234072
NM_000136.3(FANCC):c.201del (p.Ile67fs) rs2136091157
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser) rs777111154
NM_000136.3(FANCC):c.204T>G (p.Gly68=) rs2136091102
NM_000136.3(FANCC):c.207A>G (p.Gln69=) rs1554857834
NM_000136.3(FANCC):c.211T>C (p.Leu71=) rs1159035875
NM_000136.3(FANCC):c.213G>T (p.Leu71Phe) rs2136091002
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.214G>T (p.Ala72Ser) rs567465885
NM_000136.3(FANCC):c.21T>A (p.Asp7Glu)
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.222T>C (p.Ala74=) rs1554857821
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)
NM_000136.3(FANCC):c.226del (p.Trp76fs) rs2136090871
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) rs1189888124
NM_000136.3(FANCC):c.228G>T (p.Trp76Cys) rs876661132
NM_000136.3(FANCC):c.228del (p.Cys75_Trp76insTer) rs2136090829
NM_000136.3(FANCC):c.232C>G (p.Pro78Ala) rs2136090802
NM_000136.3(FANCC):c.234T>G (p.Pro78=) rs1588350226
NM_000136.3(FANCC):c.23T>C (p.Leu8Pro) rs752249253
NM_000136.3(FANCC):c.240T>C (p.Ile80=) rs1554857813
NM_000136.3(FANCC):c.246A>G (p.Ala82=) rs1554857810
NM_000136.3(FANCC):c.246A>T (p.Ala82=) rs1554857810
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)
NM_000136.3(FANCC):c.250+10A>T rs2136090521
NM_000136.3(FANCC):c.250+1G>A rs2136090597
NM_000136.3(FANCC):c.250+8T>A
NM_000136.3(FANCC):c.250+9C>A rs1831054662
NM_000136.3(FANCC):c.251-10C>G rs2136049759
NM_000136.3(FANCC):c.251-10C>T rs2136049759
NM_000136.3(FANCC):c.251-12T>G rs1397340091
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.251-2A>G rs1057517219
NM_000136.3(FANCC):c.251-2A>T
NM_000136.3(FANCC):c.251-4G>A
NM_000136.3(FANCC):c.251-5T>C rs2136049740
NM_000136.3(FANCC):c.251-5del
NM_000136.3(FANCC):c.254A>G (p.Glu85Gly)
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter) rs2136049646
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.266T>G (p.Ile89Ser) rs2136049598
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.268C>A (p.Leu90Ile) rs2136049561
NM_000136.3(FANCC):c.273A>G (p.Ile91Met)
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) rs1830584796
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.279C>T (p.Cys93=) rs770743418
NM_000136.3(FANCC):c.27T>C (p.Ser9=) rs2136101890
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)
NM_000136.3(FANCC):c.287G>T (p.Cys96Phe)
NM_000136.3(FANCC):c.288T>C (p.Cys96=) rs864622349
NM_000136.3(FANCC):c.292A>G (p.Ile98Val)
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr) rs1830583670
NM_000136.3(FANCC):c.293_296del (p.Ile98fs) rs754779102
NM_000136.3(FANCC):c.294T>C (p.Ile98=) rs2136049291
NM_000136.3(FANCC):c.294_297del (p.Asn99fs)
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.2T>C (p.Met1Thr) rs2136102345
NM_000136.3(FANCC):c.303A>G (p.Glu101=)
NM_000136.3(FANCC):c.306A>G (p.Pro102=) rs1830582695
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.30T>C (p.Cys10=)
NM_000136.3(FANCC):c.315T>C (p.Ser105=) rs749048345
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.319_340dup (p.Ile114delinsThrIleLysThrTer) rs2136048818
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.323C>G (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.328C>G (p.Leu110Val) rs1554856102
NM_000136.3(FANCC):c.328C>T (p.Leu110Phe)
NM_000136.3(FANCC):c.330T>C (p.Leu110=) rs2136048963
NM_000136.3(FANCC):c.333C>T (p.Asn111=) rs2136048913
NM_000136.3(FANCC):c.336C>T (p.Ser112=) rs1057521125
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.340A>G (p.Ile114Val) rs1830580247
NM_000136.3(FANCC):c.340A>T (p.Ile114Leu) rs1830580247
NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)
NM_000136.3(FANCC):c.345+18G>T rs765413863
NM_000136.3(FANCC):c.345+19C>T
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.345+3A>G
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.345+9G>T rs2136048623
NM_000136.3(FANCC):c.345+9_345+11del rs1693164213
NM_000136.3(FANCC):c.346-10T>C
NM_000136.3(FANCC):c.346-11_346-10del rs863224324
NM_000136.3(FANCC):c.346-12T>A
NM_000136.3(FANCC):c.346-14T>G
NM_000136.3(FANCC):c.346-18del
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>C
NM_000136.3(FANCC):c.346-1G>T rs1484503633
NM_000136.3(FANCC):c.346-3del rs766373744
NM_000136.3(FANCC):c.346-7T>A
NM_000136.3(FANCC):c.346-7T>G rs1588220867
NM_000136.3(FANCC):c.346-9G>C rs2135589079
NM_000136.3(FANCC):c.346G>C (p.Gly116Arg) rs1440493340
NM_000136.3(FANCC):c.349_360del (p.Val117_His120del) rs1825723799
NM_000136.3(FANCC):c.34T>G (p.Tyr12Asp) rs766173332
NM_000136.3(FANCC):c.34_36del (p.Tyr12del) rs1554858333
NM_000136.3(FANCC):c.351A>T (p.Val117=) rs754914546
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.354A>G (p.Leu118=)
NM_000136.3(FANCC):c.355T>C (p.Ser119Pro)
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.357_358del (p.His120fs) rs1588220764
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys) rs762884109
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.371C>T (p.Ala124Val) rs374602991
NM_000136.3(FANCC):c.372A>G (p.Ala124=)
NM_000136.3(FANCC):c.374T>C (p.Leu125Pro) rs2135588560
NM_000136.3(FANCC):c.375C>G (p.Leu125=)
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.381del (p.Phe127fs) rs2135588524
NM_000136.3(FANCC):c.387A>G (p.Lys129=)
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
NM_000136.3(FANCC):c.389_390del (p.Glu130fs) rs1564720605
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg) rs199968672
NM_000136.3(FANCC):c.390A>G (p.Glu130=) rs1419677503
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp) rs1419677503
NM_000136.3(FANCC):c.391G>A (p.Val131Ile) rs543546719
NM_000136.3(FANCC):c.396T>A (p.Ala132=) rs1482798473
NM_000136.3(FANCC):c.396T>C (p.Ala132=)
NM_000136.3(FANCC):c.399T>G (p.Leu133=) rs864622764
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.406C>G (p.Gln136Glu)
NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_000136.3(FANCC):c.417G>A (p.Gly139=)
NM_000136.3(FANCC):c.417G>T (p.Gly139=) rs190925189
NM_000136.3(FANCC):c.422C>T (p.Ala141Val) rs2135587894
NM_000136.3(FANCC):c.423A>C (p.Ala141=)
NM_000136.3(FANCC):c.423A>T (p.Ala141=)
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala) rs864622581
NM_000136.3(FANCC):c.425C>A (p.Pro142His) rs1064793605
NM_000136.3(FANCC):c.42T>C (p.Phe14=) rs760653185
NM_000136.3(FANCC):c.430G>T (p.Asp144Tyr) rs2135587786
NM_000136.3(FANCC):c.432T>G (p.Asp144Glu) rs1825715851
NM_000136.3(FANCC):c.433T>C (p.Tyr145His) rs751054264
NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser) rs1564720359
NM_000136.3(FANCC):c.439C>A (p.Pro147Thr) rs1564720334
NM_000136.3(FANCC):c.439C>G (p.Pro147Ala)
NM_000136.3(FANCC):c.445T>C (p.Leu149=) rs2135587533
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter) rs1825714345
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+12A>C
NM_000136.3(FANCC):c.456+16T>G
NM_000136.3(FANCC):c.456+1G>A rs2135587402
NM_000136.3(FANCC):c.456+20C>T rs1057520283
NM_000136.3(FANCC):c.456+6T>C
NM_000136.3(FANCC):c.456+8T>G rs761639538
NM_000136.3(FANCC):c.457-10del rs763416214
NM_000136.3(FANCC):c.457-12T>G rs188659251
NM_000136.3(FANCC):c.457-15G>A
NM_000136.3(FANCC):c.457-16T>A
NM_000136.3(FANCC):c.457-17C>T
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.457-2A>G
NM_000136.3(FANCC):c.457-4A>G
NM_000136.3(FANCC):c.460G>C (p.Val154Leu)
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.463T>C (p.Leu155=) rs2135579789
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter) rs1825652774
NM_000136.3(FANCC):c.467del (p.Ser156fs) rs1825652623
NM_000136.3(FANCC):c.469T>A (p.Leu157Ile) rs1825652301
NM_000136.3(FANCC):c.469T>C (p.Leu157=) rs1825652301
NM_000136.3(FANCC):c.470T>C (p.Leu157Ser) rs200828924
NM_000136.3(FANCC):c.474G>C (p.Ala158=)
NM_000136.3(FANCC):c.477T>C (p.Ser159=)
NM_000136.3(FANCC):c.485G>C (p.Arg162Thr) rs1825650685
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile) rs950623649
NM_000136.3(FANCC):c.494A>G (p.His165Arg)
NM_000136.3(FANCC):c.494_495del (p.His165fs) rs1564719151
NM_000136.3(FANCC):c.495T>C (p.His165=) rs2135578887
NM_000136.3(FANCC):c.498T>A (p.Leu166=)
NM_000136.3(FANCC):c.49_56del (p.Gln17fs)
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser) rs749322338
NM_000136.3(FANCC):c.511A>C (p.Thr171Pro)
NM_000136.3(FANCC):c.511A>G (p.Thr171Ala) rs1554842592
NM_000136.3(FANCC):c.514C>G (p.Gln172Glu) rs769998628
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
NM_000136.3(FANCC):c.516A>G (p.Gln172=) rs748322179
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.51G>A (p.Gln17=) rs2136101629
NM_000136.3(FANCC):c.521+11A>C
NM_000136.3(FANCC):c.521+12A>G
NM_000136.3(FANCC):c.521+14T>G
NM_000136.3(FANCC):c.521+15A>G
NM_000136.3(FANCC):c.521+17A>T
NM_000136.3(FANCC):c.521+20T>G
NM_000136.3(FANCC):c.521+5G>A rs1301899973
NM_000136.3(FANCC):c.521+5del rs2135578132
NM_000136.3(FANCC):c.521+7G>A
NM_000136.3(FANCC):c.522-16_522-14del
NM_000136.3(FANCC):c.522-6C>T rs763869417
NM_000136.3(FANCC):c.522-7del
NM_000136.3(FANCC):c.522-9C>A
NM_000136.3(FANCC):c.522-9C>G
NM_000136.3(FANCC):c.523A>G (p.Met175Val) rs876661083
NM_000136.3(FANCC):c.529C>T (p.Pro177Ser)
NM_000136.3(FANCC):c.532G>T (p.Glu178Ter)
NM_000136.3(FANCC):c.534G>C (p.Glu178Asp) rs776694218
NM_000136.3(FANCC):c.53A>C (p.Lys18Thr) rs2136101612
NM_000136.3(FANCC):c.540G>A (p.Val180=) rs2135428712
NM_000136.3(FANCC):c.540_557del (p.Ala181_Val186del)
NM_000136.3(FANCC):c.546C>G (p.Ser182=)
NM_000136.3(FANCC):c.547C>G (p.Leu183Val)
NM_000136.3(FANCC):c.547C>T (p.Leu183=) rs1554838616
NM_000136.3(FANCC):c.547del (p.Leu183fs)
NM_000136.3(FANCC):c.549G>T (p.Leu183=) rs863224611
NM_000136.3(FANCC):c.552A>G (p.Ser184=) rs2135428471
NM_000136.3(FANCC):c.556G>A (p.Val186Ile) rs730881713
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del) rs1554838595
NM_000136.3(FANCC):c.560G>A (p.Cys187Tyr) rs1239389302
NM_000136.3(FANCC):c.560del (p.Cys187fs)
NM_000136.3(FANCC):c.565C>A (p.Pro189Thr) rs377620735
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe) rs1800364
NM_000136.3(FANCC):c.574dup (p.Thr192fs) rs2135428096
NM_000136.3(FANCC):c.576C>G (p.Thr192=)
NM_000136.3(FANCC):c.577C>T (p.Leu193=) rs2135427993
NM_000136.3(FANCC):c.584A>G (p.Asp195Gly) rs1800365
NM_000136.3(FANCC):c.585T>G (p.Asp195Glu) rs2135427899
NM_000136.3(FANCC):c.586G>A (p.Val196Ile)
NM_000136.3(FANCC):c.590A>T (p.Asp197Val) rs1064793625
NM_000136.3(FANCC):c.591C>A (p.Asp197Glu)
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu) rs1457631500
NM_000136.3(FANCC):c.591C>T (p.Asp197=) rs1457631500
NM_000136.3(FANCC):c.592C>A (p.Pro198Thr)
NM_000136.3(FANCC):c.594C>G (p.Pro198=)
NM_000136.3(FANCC):c.595del (p.Leu199fs) rs1057519366
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro) rs143213659
NM_000136.3(FANCC):c.599T>A (p.Val200Glu) rs2135427579
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.603G>T (p.Glu201Asp) rs1060502516
NM_000136.3(FANCC):c.607C>T (p.Leu203Phe) rs878853672
NM_000136.3(FANCC):c.60T>C (p.Ser20=) rs2136101529
NM_000136.3(FANCC):c.610C>T (p.Leu204Phe) rs1830064754
NM_000136.3(FANCC):c.612del (p.Ile205fs)
NM_000136.3(FANCC):c.615C>A (p.Ile205=)
NM_000136.3(FANCC):c.61G>C (p.Val21Leu) rs772386467
NM_000136.3(FANCC):c.621T>C (p.His207=) rs1588181585
NM_000136.3(FANCC):c.632C>T (p.Pro211Leu) rs140781259
NM_000136.3(FANCC):c.633T>C (p.Pro211=) rs2135427041
NM_000136.3(FANCC):c.635del (p.Gln212fs) rs2135427018
NM_000136.3(FANCC):c.63A>G (p.Val21=) rs1477321622
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.641T>A (p.Ile214Asn)
NM_000136.3(FANCC):c.642C>A (p.Ile214=) rs777274497
NM_000136.3(FANCC):c.642C>T (p.Ile214=) rs777274497
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe) rs1269365165
NM_000136.3(FANCC):c.645C>T (p.Leu215=)
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
NM_000136.3(FANCC):c.648G>A (p.Gln216=)
NM_000136.3(FANCC):c.651A>G (p.Pro217=)
NM_000136.3(FANCC):c.657C>T (p.Phe219=) rs2135426603
NM_000136.3(FANCC):c.659T>G (p.Phe220Cys) rs1012529150
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter) rs1830059125
NM_000136.3(FANCC):c.662del (p.Glu221fs) rs1830058898
NM_000136.3(FANCC):c.663G>A (p.Glu221=) rs2135426464
NM_000136.3(FANCC):c.665C>A (p.Ala222Asp) rs1830058618
NM_000136.3(FANCC):c.666T>C (p.Ala222=) rs2135426385
NM_000136.3(FANCC):c.669A>G (p.Val223=) rs1588181348
NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys) rs374176091
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.676G>A (p.Ala226Thr)
NM_000136.3(FANCC):c.677C>T (p.Ala226Val) rs1166491683
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.683T>C (p.Leu228Ser) rs2135426128
NM_000136.3(FANCC):c.683dup (p.Leu228fs)
NM_000136.3(FANCC):c.686+10A>G rs2135425899
NM_000136.3(FANCC):c.686+13T>C
NM_000136.3(FANCC):c.686+16T>G rs774813556
NM_000136.3(FANCC):c.686+17T>C
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.686+5G>A rs1064794691
NM_000136.3(FANCC):c.686T>G (p.Leu229Arg)
NM_000136.3(FANCC):c.687-11C>A
NM_000136.3(FANCC):c.687-12T>G
NM_000136.3(FANCC):c.687-14T>A
NM_000136.3(FANCC):c.687-15A>G
NM_000136.3(FANCC):c.687-16T>C
NM_000136.3(FANCC):c.687-17T>G
NM_000136.3(FANCC):c.687-19_687-16del
NM_000136.3(FANCC):c.687-1G>A rs1588134748
NM_000136.3(FANCC):c.687-4A>G rs2135168785
NM_000136.3(FANCC):c.687-5G>T rs767811745
NM_000136.3(FANCC):c.687-6T>C rs2135168920
NM_000136.3(FANCC):c.687-6T>G
NM_000136.3(FANCC):c.687-6dup
NM_000136.3(FANCC):c.687-9T>G rs2135169028
NM_000136.3(FANCC):c.687G>A (p.Leu229=) rs864622527
NM_000136.3(FANCC):c.689AGA[1] (p.Lys231del) rs3831244
NM_000136.3(FANCC):c.6T>C (p.Ala2=) rs376084231
NM_000136.3(FANCC):c.700C>G (p.Leu234Val) rs1827537458
NM_000136.3(FANCC):c.704C>G (p.Pro235Arg)
NM_000136.3(FANCC):c.705del (p.Met236fs) rs2135168243
NM_000136.3(FANCC):c.706A>C (p.Met236Leu) rs771319430
NM_000136.3(FANCC):c.707T>C (p.Met236Thr)
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter) rs2136101386
NM_000136.3(FANCC):c.711A>G (p.Ser237=)
NM_000136.3(FANCC):c.718G>A (p.Val240Ile) rs866787972
NM_000136.3(FANCC):c.720C>A (p.Val240=) rs1444550098
NM_000136.3(FANCC):c.723C>A (p.Cys241Ter) rs2135167716
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter) rs1588134571
NM_000136.3(FANCC):c.733C>G (p.Arg245Gly)
NM_000136.3(FANCC):c.735G>A (p.Arg245=) rs1174763492
NM_000136.3(FANCC):c.738C>T (p.His246=) rs1414558793
NM_000136.3(FANCC):c.742C>T (p.Pro248Ser)
NM_000136.3(FANCC):c.743C>G (p.Pro248Arg)
NM_000136.3(FANCC):c.744C>G (p.Pro248=) rs758201013
NM_000136.3(FANCC):c.744C>T (p.Pro248=) rs758201013
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
NM_000136.3(FANCC):c.748C>T (p.Leu250Phe) rs778966663
NM_000136.3(FANCC):c.749T>C (p.Leu250Pro) rs1827530053
NM_000136.3(FANCC):c.753A>G (p.Glu251=)
NM_000136.3(FANCC):c.759A>T (p.Ala253=)
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.764T>C (p.Leu255Pro) rs767634640
NM_000136.3(FANCC):c.765G>A (p.Leu255=) rs1588134446
NM_000136.3(FANCC):c.76dup (p.Ser26fs)
NM_000136.3(FANCC):c.773T>C (p.Phe258Ser)
NM_000136.3(FANCC):c.778A>G (p.Lys260Glu) rs1282238372
NM_000136.3(FANCC):c.783A>C (p.Leu261=) rs1060504646
NM_000136.3(FANCC):c.783A>G (p.Leu261=) rs1060504646
NM_000136.3(FANCC):c.78C>T (p.Ser26=)
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter) rs1827526425
NM_000136.3(FANCC):c.797G>A (p.Arg266Lys)
NM_000136.3(FANCC):c.797_798dup (p.Asn267fs)
NM_000136.3(FANCC):c.798A>G (p.Arg266=)
NM_000136.3(FANCC):c.803G>A (p.Cys268Tyr) rs2135165898
NM_000136.3(FANCC):c.804T>C (p.Cys268=)
NM_000136.3(FANCC):c.807G>A (p.Leu269=) rs2135165808
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.80C>G (p.Thr27Ser) rs1489419613
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile) rs1489419613
NM_000136.3(FANCC):c.811A>G (p.Arg271Gly) rs2135165709
NM_000136.3(FANCC):c.812G>C (p.Arg271Thr)
NM_000136.3(FANCC):c.813G>T (p.Arg271Ser) rs2135165634
NM_000136.3(FANCC):c.814A>G (p.Ile272Val)
NM_000136.3(FANCC):c.815T>G (p.Ile272Ser) rs1827523728
NM_000136.3(FANCC):c.816C>G (p.Ile272Met) rs55719336
NM_000136.3(FANCC):c.819A>G (p.Glu273=)
NM_000136.3(FANCC):c.820T>A (p.Cys274Ser) rs1040503080
NM_000136.3(FANCC):c.821G>T (p.Cys274Phe) rs2135165383
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)
NM_000136.3(FANCC):c.827T>C (p.Ile276Thr)
NM_000136.3(FANCC):c.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.834T>C (p.Asp278=) rs1259273920
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
NM_000136.3(FANCC):c.837A>G (p.Ser279=)
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro) rs1588134159
NM_000136.3(FANCC):c.839C>A (p.Ser280Ter) rs749230615
NM_000136.3(FANCC):c.840G>C (p.Ser280=)
NM_000136.3(FANCC):c.840G>T (p.Ser280=) rs34671520
NM_000136.3(FANCC):c.843+12G>A rs2135164340
NM_000136.3(FANCC):c.843+16T>C
NM_000136.3(FANCC):c.843+19_843+20insTTTT
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.843+1G>T rs587779909
NM_000136.3(FANCC):c.843+20G>A
NM_000136.3(FANCC):c.843+5G>T rs369082921
NM_000136.3(FANCC):c.844-10C>T rs1588106888
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.844-15C>T
NM_000136.3(FANCC):c.844-18G>A
NM_000136.3(FANCC):c.844-1G>A
NM_000136.3(FANCC):c.844-1G>T rs774209201
NM_000136.3(FANCC):c.844-20A>G
NM_000136.3(FANCC):c.844-6T>C rs1417324884
NM_000136.3(FANCC):c.844-6T>G rs1417324884
NM_000136.3(FANCC):c.844-7T>C
NM_000136.3(FANCC):c.844-8T>C rs2134968959
NM_000136.3(FANCC):c.844-9C>G
NM_000136.3(FANCC):c.847C>A (p.Gln283Lys) rs1564667865
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter) rs1564667865
NM_000136.3(FANCC):c.849A>G (p.Gln283=) rs2134968632
NM_000136.3(FANCC):c.854C>G (p.Ala285Gly)
NM_000136.3(FANCC):c.857G>A (p.Cys286Tyr)
NM_000136.3(FANCC):c.862C>T (p.Pro288Ser) rs1588106749
NM_000136.3(FANCC):c.863del (p.Pro288fs) rs2134968283
NM_000136.3(FANCC):c.866C>T (p.Ala289Val) rs777732881
NM_000136.3(FANCC):c.867C>T (p.Ala289=) rs1588106727
NM_000136.3(FANCC):c.873C>T (p.Phe291=) rs2134967899
NM_000136.3(FANCC):c.874C>T (p.Arg292Trp) rs1306075116
NM_000136.3(FANCC):c.875G>C (p.Arg292Pro) rs747060782
NM_000136.3(FANCC):c.876G>T (p.Arg292=) rs1215600153
NM_000136.3(FANCC):c.879T>G (p.Val293=)
NM_000136.3(FANCC):c.880G>A (p.Val294Ile)
NM_000136.3(FANCC):c.883dup (p.Asp295fs) rs1826007748
NM_000136.3(FANCC):c.885T>C (p.Asp295=)
NM_000136.3(FANCC):c.887A>G (p.Glu296Gly) rs2134967462
NM_000136.3(FANCC):c.888G>A (p.Glu296=) rs779166059
NM_000136.3(FANCC):c.891G>T (p.Met297Ile) rs1554833192
NM_000136.3(FANCC):c.896+10A>C
NM_000136.3(FANCC):c.896+13_896+48del rs749142233
NM_000136.3(FANCC):c.896+14T>C rs2134966492
NM_000136.3(FANCC):c.896+16T>C rs764624750
NM_000136.3(FANCC):c.896+19C>T
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>A rs863224441
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.896+5A>T rs1826005529
NM_000136.3(FANCC):c.896+7G>A rs1554833182
NM_000136.3(FANCC):c.897-11G>T
NM_000136.3(FANCC):c.897-12T>G
NM_000136.3(FANCC):c.897-1G>A rs1588101086
NM_000136.3(FANCC):c.897-20T>A
NM_000136.3(FANCC):c.897-6G>A rs2134925431
NM_000136.3(FANCC):c.897-7dup
NM_000136.3(FANCC):c.897G>A (p.Arg299=) rs759083348
NM_000136.3(FANCC):c.897G>C (p.Arg299Ser)
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107
NM_000136.3(FANCC):c.900T>C (p.Cys300=)
NM_000136.3(FANCC):c.900T>G (p.Cys300Trp) rs2134924997
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr) rs972738983
NM_000136.3(FANCC):c.902C>T (p.Ala301Val) rs553689536
NM_000136.3(FANCC):c.903A>G (p.Ala301=) rs1825785279
NM_000136.3(FANCC):c.906C>T (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.907del (p.Leu303fs)
NM_000136.3(FANCC):c.909G>C (p.Leu303=) rs1588100992
NM_000136.3(FANCC):c.90C>A (p.Thr30=) rs756684704
NM_000136.3(FANCC):c.90C>G (p.Thr30=) rs756684704
NM_000136.3(FANCC):c.911A>C (p.Glu304Ala)
NM_000136.3(FANCC):c.913A>G (p.Thr305Ala) rs1397912085
NM_000136.3(FANCC):c.915C>G (p.Thr305=)
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu) rs1564665867
NM_000136.3(FANCC):c.921G>A (p.Gly307=) rs1410236696
NM_000136.3(FANCC):c.922G>A (p.Ala308Thr)
NM_000136.3(FANCC):c.924C>T (p.Ala308=) rs864622225
NM_000136.3(FANCC):c.935_936del (p.Ile312fs)
NM_000136.3(FANCC):c.938C>T (p.Ala313Val) rs730881712
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) rs1554832862
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.948G>C (p.Gln316His) rs1554832851
NM_000136.3(FANCC):c.956C>A (p.Thr319Lys)
NM_000136.3(FANCC):c.957G>T (p.Thr319=) rs1060504647
NM_000136.3(FANCC):c.957_958delinsTT (p.Gln320Ter) rs2134922671
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) rs1825775052
NM_000136.3(FANCC):c.960G>A (p.Gln320=)
NM_000136.3(FANCC):c.967G>A (p.Val323Ile) rs730881720
NM_000136.3(FANCC):c.972A>C (p.Glu324Asp) rs1261385032
NM_000136.3(FANCC):c.972A>G (p.Glu324=) rs1261385032
NM_000136.3(FANCC):c.975T>C (p.Ala325=)
NM_000136.3(FANCC):c.981G>A (p.Glu327=) rs2134922117
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg) rs374915316
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg) rs756408779
NM_000136.3(FANCC):c.992_995dup (p.Leu333fs)
NM_000136.3(FANCC):c.994C>T (p.Gln332Ter)
NM_000136.3(FANCC):c.995A>G (p.Gln332Arg) rs781746980
NM_000136.3(FANCC):c.996+11T>C
NM_000136.3(FANCC):c.996+18T>C
NM_000136.3(FANCC):c.996+19A>G rs2134920464
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>C rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_000136.3(FANCC):c.996+2T>C
NM_000136.3(FANCC):c.996+8A>T
NM_000136.3(FANCC):c.996+8dup
NM_000136.3(FANCC):c.996+9T>A rs757984397
NM_000136.3(FANCC):c.996+9T>C rs757984397
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865
NM_000136.3(FANCC):c.997-14C>A
NM_000136.3(FANCC):c.997-15T>C rs922997650
NM_000136.3(FANCC):c.997-3C>T rs878853674
NM_000136.3(FANCC):c.997-5G>T
NM_000136.3(FANCC):c.997-64_997-16dup
NM_000159.4(GCDH):c.91+5G>T rs952356983
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1063-13G>C
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg) rs267606853
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.1238A>G (p.Gln413Arg)
NM_000175.5(GPI):c.1269+1G>A
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
NM_000175.5(GPI):c.1414C>T (p.Arg472Cys) rs1364382189
NM_000175.5(GPI):c.1415G>A (p.Arg472His)
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)
NM_000175.5(GPI):c.1594A>G (p.Ser532Gly)
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr) rs139035514
NM_000175.5(GPI):c.1614C>G (p.His538Gln) rs537943038
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn) rs137853585
NM_000175.5(GPI):c.1640A>G (p.Asn547Ser)
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
NM_000175.5(GPI):c.190G>A (p.Val64Met)
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
NM_000175.5(GPI):c.244del (p.Glu82fs) rs769026153
NM_000175.5(GPI):c.283-2A>G
NM_000175.5(GPI):c.287G>A (p.Arg96Gln)
NM_000175.5(GPI):c.413G>A (p.Ser138Asn)
NM_000175.5(GPI):c.418G>A (p.Asp140Asn)
NM_000175.5(GPI):c.487-14A>G
NM_000175.5(GPI):c.603C>G (p.Pro201=) rs1062480
NM_000175.5(GPI):c.637T>A (p.Phe213Ile) rs2145365520
NM_000175.5(GPI):c.695C>T (p.Ala232Val)
NM_000175.5(GPI):c.719C>T (p.Ala240Val)
NM_000175.5(GPI):c.751-5del rs375313737
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000175.5(GPI):c.804+1_804+2del
NM_000175.5(GPI):c.805T>C (p.Trp269Arg)
NM_000175.5(GPI):c.812del (p.Gly271fs) rs2145419704
NM_000175.5(GPI):c.833C>T (p.Ser278Leu)
NM_000175.5(GPI):c.851T>C (p.Ile284Thr)
NM_000175.5(GPI):c.885G>T (p.Gln295His)
NM_000175.5(GPI):c.892T>G (p.Ser298Ala)
NM_000175.5(GPI):c.91G>C (p.Asp31His)
NM_000175.5(GPI):c.926C>T (p.Thr309Met)
NM_000175.5(GPI):c.937_952dup (p.Val318fs)
NM_000184.2(HBG2):c.-167C>A rs34809449
NM_000184.2(HBG2):c.-167C>T rs34809449
NM_000184.2(HBG2):c.-255C>G rs35617911
NM_000184.2(HBG2):c.277C>T (p.His93Tyr) rs35103459
NM_000184.3(HBG2):c.125T>C (p.Phe42Ser) rs34878913
NM_000184.3(HBG2):c.190C>T (p.His64Tyr) rs34474104
NM_000184.3(HBG2):c.191A>T (p.His64Leu)
NM_000184.3(HBG2):c.202G>A (p.Val68Met) rs587776864
NM_000184.3(HBG2):c.85C>A (p.Leu29Met) rs1278163109
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.4(CFH):c.*127G>T rs369221006
NM_000186.4(CFH):c.-61A>G rs886045741
NM_000186.4(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter) rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.4(CFH):c.1336+4A>G rs1573028051
NM_000186.4(CFH):c.1451C>T (p.Ala484Val) rs1668781638
NM_000186.4(CFH):c.1511C>T (p.Thr504Met) rs377008918
NM_000186.4(CFH):c.1616G>T (p.Gly539Val) rs1027258331
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly) rs760174473
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) rs1431491220
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) rs2149108610
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala) rs886045745
NM_000186.4(CFH):c.2397del (p.Glu800fs) rs1131690796
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.2535dup (p.Gln846fs) rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.275C>T (p.Pro92Leu) rs886045743
NM_000186.4(CFH):c.2763T>C (p.Ser921=) rs1212658402
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) rs1573079762
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.2956+13G>A rs572034879
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
NM_000186.4(CFH):c.3134-2A>G rs1300996807
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr) rs1652885970
NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer)
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln) rs1064795727
NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg) rs2149118066
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg) rs121913055
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter) rs121913063
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) rs796052136
NM_000186.4(CFH):c.497G>A (p.Arg166Gln) rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu) rs770339409
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.4(CFH):c.59-10T>G rs1573008794
NM_000186.4(CFH):c.672G>T (p.Lys224Asn) rs1408473510
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423
NM_000186.4(CFH):c.83_86del (p.Arg28fs) rs796052137
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg) rs2132884703
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser) rs137853249
NM_000188.3(HK1):c.497_591+1del
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.1011T>A (p.Ala337=)
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys) rs1322031909
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
NM_000254.3(MTR):c.1029T>C (p.Pro343=)
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
NM_000254.3(MTR):c.1044C>G (p.Ala348=)
NM_000254.3(MTR):c.1075+12A>C
NM_000254.3(MTR):c.1075+14A>T
NM_000254.3(MTR):c.1076-11C>G rs186367553
NM_000254.3(MTR):c.1076-19A>T
NM_000254.3(MTR):c.1076-20A>T
NM_000254.3(MTR):c.1076-9C>T
NM_000254.3(MTR):c.1077T>G (p.Gly359=) rs745469748
NM_000254.3(MTR):c.1092G>A (p.Arg364=)
NM_000254.3(MTR):c.1095T>C (p.Ile365=)
NM_000254.3(MTR):c.1101G>A (p.Pro367=) rs763018049
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp) rs1662641467
NM_000254.3(MTR):c.1164A>G (p.Lys388=)
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
NM_000254.3(MTR):c.1176A>C (p.Ala392=)
NM_000254.3(MTR):c.1176A>G (p.Ala392=)
NM_000254.3(MTR):c.1188+19C>T
NM_000254.3(MTR):c.1188+1G>A rs2103130072
NM_000254.3(MTR):c.1188+7A>G
NM_000254.3(MTR):c.1189-11T>C rs2103148397
NM_000254.3(MTR):c.1189-14C>G
NM_000254.3(MTR):c.1189-18C>T
NM_000254.3(MTR):c.1189-20C>T
NM_000254.3(MTR):c.1189-7C>T
NM_000254.3(MTR):c.1197G>A (p.Leu399=)
NM_000254.3(MTR):c.1200dup (p.Val401fs)
NM_000254.3(MTR):c.1206C>T (p.Ala402=)
NM_000254.3(MTR):c.1239G>A (p.Leu413=)
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
NM_000254.3(MTR):c.1248C>T (p.Asn416=)
NM_000254.3(MTR):c.1251G>T (p.Met417Ile) rs2103148829
NM_000254.3(MTR):c.1264C>T (p.Leu422=)
NM_000254.3(MTR):c.1266A>G (p.Leu422=) rs984927112
NM_000254.3(MTR):c.1269T>C (p.Asp423=)
NM_000254.3(MTR):c.126G>A (p.Gln42=)
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp) rs2103149012
NM_000254.3(MTR):c.128G>A (p.Arg43Gln) rs143088011
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu) rs1660806761
NM_000254.3(MTR):c.12_13del (p.Leu5fs)
NM_000254.3(MTR):c.1305T>C (p.Ile435=)
NM_000254.3(MTR):c.1308T>G (p.Ala436=)
NM_000254.3(MTR):c.1311C>A (p.Ser437=)
NM_000254.3(MTR):c.1323C>T (p.Ile441=)
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu) rs770004849
NM_000254.3(MTR):c.1326A>G (p.Ala442=)
NM_000254.3(MTR):c.1329+14T>C
NM_000254.3(MTR):c.1329+15_1329+16del
NM_000254.3(MTR):c.1329+16T>C
NM_000254.3(MTR):c.1329+16del
NM_000254.3(MTR):c.1329+19T>G
NM_000254.3(MTR):c.1329+9A>G
NM_000254.3(MTR):c.1330-10C>T
NM_000254.3(MTR):c.1330-12T>C
NM_000254.3(MTR):c.1330-2A>T
NM_000254.3(MTR):c.1330-5C>A
NM_000254.3(MTR):c.1335T>G (p.Pro445=)
NM_000254.3(MTR):c.1344C>T (p.Ile448=)
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.1350C>G (p.Ser450=)
NM_000254.3(MTR):c.135G>A (p.Lys45=) rs747724978
NM_000254.3(MTR):c.1362T>G (p.Ala454=) rs376684560
NM_000254.3(MTR):c.136C>T (p.Leu46=)
NM_000254.3(MTR):c.1377G>T (p.Gly459=)
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
NM_000254.3(MTR):c.1398G>A (p.Lys466=)
NM_000254.3(MTR):c.1404T>C (p.Ile468=)
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser) rs2103166386
NM_000254.3(MTR):c.1413C>T (p.Ser471=)
NM_000254.3(MTR):c.141C>T (p.Asn47=)
NM_000254.3(MTR):c.1420C>T (p.Leu474=)
NM_000254.3(MTR):c.1470G>A (p.Lys490=)
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
NM_000254.3(MTR):c.1488G>C (p.Val496=)
NM_000254.3(MTR):c.1491C>T (p.Val497=)
NM_000254.3(MTR):c.1497T>A (p.Ala499=)
NM_000254.3(MTR):c.1497T>C (p.Ala499=)
NM_000254.3(MTR):c.1497T>G (p.Ala499=)
NM_000254.3(MTR):c.1506A>G (p.Glu502=)
NM_000254.3(MTR):c.1512del (p.Gln505fs)
NM_000254.3(MTR):c.1515+14T>G
NM_000254.3(MTR):c.1515+16T>C
NM_000254.3(MTR):c.1515+17G>A
NM_000254.3(MTR):c.1515+2T>C
NM_000254.3(MTR):c.1516-11C>G
NM_000254.3(MTR):c.1516-11C>T
NM_000254.3(MTR):c.1516-15dup
NM_000254.3(MTR):c.1516-5C>T
NM_000254.3(MTR):c.1516-6C>G
NM_000254.3(MTR):c.1516-6C>T
NM_000254.3(MTR):c.1516-7T>G
NM_000254.3(MTR):c.1518A>C (p.Ala506=)
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln) rs1572261571
NM_000254.3(MTR):c.1527A>T (p.Thr509=)
NM_000254.3(MTR):c.1530C>T (p.Asp510=)
NM_000254.3(MTR):c.1544T>G (p.Val515Gly) rs1663828645
NM_000254.3(MTR):c.1545G>A (p.Val515=)
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
NM_000254.3(MTR):c.1566G>T (p.Leu522=)
NM_000254.3(MTR):c.1575A>G (p.Lys525=) rs199700767
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.3(MTR):c.1579C>T (p.Leu527=)
NM_000254.3(MTR):c.1581G>C (p.Leu527=)
NM_000254.3(MTR):c.1596T>C (p.Asn532=)
NM_000254.3(MTR):c.1614T>C (p.Pro538=)
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
NM_000254.3(MTR):c.1620C>T (p.Ile540=)
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
NM_000254.3(MTR):c.1647A>G (p.Glu549=) rs1171736020
NM_000254.3(MTR):c.1656G>A (p.Leu552=)
NM_000254.3(MTR):c.1689C>A (p.Val563=)
NM_000254.3(MTR):c.1689C>T (p.Val563=)
NM_000254.3(MTR):c.1695+10G>A
NM_000254.3(MTR):c.1695+11G>A
NM_000254.3(MTR):c.1695+13A>G
NM_000254.3(MTR):c.1695+13A>T
NM_000254.3(MTR):c.1695+14T>C
NM_000254.3(MTR):c.1695+17T>G
NM_000254.3(MTR):c.1695+18C>T
NM_000254.3(MTR):c.1695+20C>T
NM_000254.3(MTR):c.1695+6T>C
NM_000254.3(MTR):c.1695+7G>A
NM_000254.3(MTR):c.1695+7G>T rs183273480
NM_000254.3(MTR):c.1696-14A>G
NM_000254.3(MTR):c.1696-18T>C rs2103252601
NM_000254.3(MTR):c.1696-19A>G
NM_000254.3(MTR):c.1696-4C>T
NM_000254.3(MTR):c.1696-5G>A
NM_000254.3(MTR):c.1696-5G>T
NM_000254.3(MTR):c.1696-6T>C
NM_000254.3(MTR):c.1701A>G (p.Thr567=)
NM_000254.3(MTR):c.1707T>A (p.Pro569=)
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
NM_000254.3(MTR):c.1714A>C (p.Arg572=)
NM_000254.3(MTR):c.1737C>T (p.Asn579=)
NM_000254.3(MTR):c.174T>C (p.Asp58=) rs2103013970
NM_000254.3(MTR):c.1755A>T (p.Arg585=)
NM_000254.3(MTR):c.1758A>G (p.Gly586=)
NM_000254.3(MTR):c.177T>C (p.His59=)
NM_000254.3(MTR):c.1803T>C (p.His601=)
NM_000254.3(MTR):c.1812+10A>G
NM_000254.3(MTR):c.1812+12G>T
NM_000254.3(MTR):c.1812+15C>T
NM_000254.3(MTR):c.1812+16T>A
NM_000254.3(MTR):c.1812+17C>T
NM_000254.3(MTR):c.1812_1812+1insATAC
NM_000254.3(MTR):c.1813-11A>G rs1289723374
NM_000254.3(MTR):c.1830G>T (p.Gly610=)
NM_000254.3(MTR):c.186G>A (p.Pro62=)
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
NM_000254.3(MTR):c.1878A>G (p.Glu626=)
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
NM_000254.3(MTR):c.18A>G (p.Gln6=)
NM_000254.3(MTR):c.1929T>G (p.Thr643=)
NM_000254.3(MTR):c.192A>G (p.Lys64=)
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
NM_000254.3(MTR):c.1953+11A>C
NM_000254.3(MTR):c.1953+12A>G
NM_000254.3(MTR):c.1953+13G>A
NM_000254.3(MTR):c.1953+15G>T
NM_000254.3(MTR):c.1953+18C>T
NM_000254.3(MTR):c.1953+19T>A
NM_000254.3(MTR):c.1953+20A>G
NM_000254.3(MTR):c.1953+3A>G rs781246271
NM_000254.3(MTR):c.1953+9A>C
NM_000254.3(MTR):c.1954-11T>A
NM_000254.3(MTR):c.1954-12A>C rs192346180
NM_000254.3(MTR):c.1954-12A>G
NM_000254.3(MTR):c.1954-19G>C rs2103290480
NM_000254.3(MTR):c.1954-4T>C
NM_000254.3(MTR):c.1956T>C (p.Thr652=)
NM_000254.3(MTR):c.1965A>C (p.Thr655=)
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg) rs1664416870
NM_000254.3(MTR):c.1986G>T (p.Gln662His) rs1664418343
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) rs1572278166
NM_000254.3(MTR):c.2013C>A (p.Val671=)
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser) rs150058137
NM_000254.3(MTR):c.2021G>A (p.Arg674His) rs774231870
NM_000254.3(MTR):c.2022C>T (p.Arg674=) rs2103291244
NM_000254.3(MTR):c.2025T>C (p.Leu675=)
NM_000254.3(MTR):c.2037T>C (p.Leu679=)
NM_000254.3(MTR):c.2043+15C>T
NM_000254.3(MTR):c.2043+8A>G
NM_000254.3(MTR):c.2043+9C>T rs2103291466
NM_000254.3(MTR):c.2044-11_2044-9del rs542174711
NM_000254.3(MTR):c.2044-11dup
NM_000254.3(MTR):c.2044-12T>C
NM_000254.3(MTR):c.2044-17T>C
NM_000254.3(MTR):c.2044-19T>C
NM_000254.3(MTR):c.2044-1G>A
NM_000254.3(MTR):c.2044-1G>T
NM_000254.3(MTR):c.2044-20T>C
NM_000254.3(MTR):c.2044-4T>C
NM_000254.3(MTR):c.2044-7T>G
NM_000254.3(MTR):c.2044-8T>C rs1664517879
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
NM_000254.3(MTR):c.2067G>A (p.Glu689=)
NM_000254.3(MTR):c.2076G>A (p.Glu692=)
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
NM_000254.3(MTR):c.2106C>T (p.Pro702=)
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
NM_000254.3(MTR):c.2109A>C (p.Arg703=)
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs) rs797044444
NM_000254.3(MTR):c.2118T>C (p.Asn706=) rs1664526437
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
NM_000254.3(MTR):c.2133C>T (p.Pro711=)
NM_000254.3(MTR):c.2139del (p.Met713fs)
NM_000254.3(MTR):c.213T>C (p.Ser71=)
NM_000254.3(MTR):c.2163T>C (p.Asp721=)
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
NM_000254.3(MTR):c.2190A>G (p.Leu730=)
NM_000254.3(MTR):c.2193T>C (p.Pro731=)
NM_000254.3(MTR):c.2196+12A>C rs1664530187
NM_000254.3(MTR):c.2196+13T>C
NM_000254.3(MTR):c.2196+15G>A
NM_000254.3(MTR):c.2196+17G>A
NM_000254.3(MTR):c.2196+17G>C
NM_000254.3(MTR):c.2196+19G>A rs372533462
NM_000254.3(MTR):c.2196+5G>A rs2103301889
NM_000254.3(MTR):c.2197-18C>A
NM_000254.3(MTR):c.2197-18C>G
NM_000254.3(MTR):c.2197-5C>G
NM_000254.3(MTR):c.2197-6T>C rs1328542941
NM_000254.3(MTR):c.2197-6dup
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
NM_000254.3(MTR):c.2205G>A (p.Lys735=)
NM_000254.3(MTR):c.2211C>T (p.Ala737=)
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
NM_000254.3(MTR):c.2241T>A (p.Leu747=)
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
NM_000254.3(MTR):c.2244C>A (p.Ile748=)
NM_000254.3(MTR):c.2247T>G (p.Pro749=)
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_000254.3(MTR):c.225T>G (p.Pro75=)
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
NM_000254.3(MTR):c.2268A>G (p.Glu756=)
NM_000254.3(MTR):c.2274C>A (p.Thr758=)
NM_000254.3(MTR):c.2282T>A (p.Leu761His) rs1664590593
NM_000254.3(MTR):c.2286C>T (p.Asn762=)
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
NM_000254.3(MTR):c.2304+16C>A
NM_000254.3(MTR):c.2304+16C>T
NM_000254.3(MTR):c.2304+3A>C rs1572283994
NM_000254.3(MTR):c.2305-11T>C
NM_000254.3(MTR):c.2305-11T>G
NM_000254.3(MTR):c.2305-14G>T
NM_000254.3(MTR):c.2305-1G>T rs1664661222
NM_000254.3(MTR):c.2305-2A>G
NM_000254.3(MTR):c.2305-4C>T
NM_000254.3(MTR):c.2305-5T>C
NM_000254.3(MTR):c.2305-9C>T
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala) rs968363996
NM_000254.3(MTR):c.2325C>A (p.Ile775=)
NM_000254.3(MTR):c.2325C>T (p.Ile775=)
NM_000254.3(MTR):c.2333C>T (p.Ala778Val) rs2103313543
NM_000254.3(MTR):c.2346C>T (p.Gly782=) rs777213189
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
NM_000254.3(MTR):c.2355C>T (p.His785=)
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
NM_000254.3(MTR):c.237C>T (p.Tyr79=)
NM_000254.3(MTR):c.2385C>A (p.Val795=)
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
NM_000254.3(MTR):c.2403C>T (p.Phe801=)
NM_000254.3(MTR):c.2405+18del
NM_000254.3(MTR):c.2405+1G>A rs1664669480
NM_000254.3(MTR):c.2405+20C>G
NM_000254.3(MTR):c.2405+20C>T
NM_000254.3(MTR):c.2405+8A>G rs886046221
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln) rs760932771
NM_000254.3(MTR):c.2406-10T>C
NM_000254.3(MTR):c.2406-18C>G
NM_000254.3(MTR):c.2406-18C>T
NM_000254.3(MTR):c.2406-2A>T
NM_000254.3(MTR):c.2406-8T>G
NM_000254.3(MTR):c.2406-9G>C
NM_000254.3(MTR):c.240A>G (p.Gln80=)
NM_000254.3(MTR):c.2424C>G (p.Val808=)
NM_000254.3(MTR):c.2463C>T (p.Asp821=)
NM_000254.3(MTR):c.2472A>T (p.Ala824=) rs1665277178
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
NM_000254.3(MTR):c.2473+17C>T
NM_000254.3(MTR):c.2473+20T>A
NM_000254.3(MTR):c.2473+3A>G rs1665277406
NM_000254.3(MTR):c.2473+9C>A
NM_000254.3(MTR):c.2474-10A>T
NM_000254.3(MTR):c.2474-15A>T
NM_000254.3(MTR):c.2474-17_2474-16inv
NM_000254.3(MTR):c.2474-18T>C rs10925256
NM_000254.3(MTR):c.2474-18_2474-17insTA
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000254.3(MTR):c.2474-19_2474-17del
NM_000254.3(MTR):c.2474-19_2474-18insAA
NM_000254.3(MTR):c.2474-19_2474-18inv
NM_000254.3(MTR):c.2474-20_2474-19insA rs1665333724
NM_000254.3(MTR):c.2474-4del rs546254033
NM_000254.3(MTR):c.2474-4dup rs546254033
NM_000254.3(MTR):c.2474-5_2474-4del rs546254033
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000254.3(MTR):c.2474-9A>C
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer) rs1572309822
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000254.3(MTR):c.2487G>C (p.Leu829=)
NM_000254.3(MTR):c.249+11C>T
NM_000254.3(MTR):c.249+15G>T
NM_000254.3(MTR):c.249+16del
NM_000254.3(MTR):c.249+19C>G
NM_000254.3(MTR):c.249+20C>G
NM_000254.3(MTR):c.2490A>G (p.Ser830=)
NM_000254.3(MTR):c.2493A>G (p.Gly831=)
NM_000254.3(MTR):c.250-10C>G
NM_000254.3(MTR):c.250-12C>G
NM_000254.3(MTR):c.250-15A>C
NM_000254.3(MTR):c.250-4dup
NM_000254.3(MTR):c.2508C>G (p.Ser836=)
NM_000254.3(MTR):c.2514T>C (p.Asp838=)
NM_000254.3(MTR):c.2517A>G (p.Glu839=)
NM_000254.3(MTR):c.2523T>A (p.Ile841=)
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
NM_000254.3(MTR):c.2532C>T (p.Ala844=)
NM_000254.3(MTR):c.2535G>A (p.Lys845=)
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr) rs2147881808
NM_000254.3(MTR):c.2553T>G (p.Ala851=)
NM_000254.3(MTR):c.255C>T (p.Tyr85=)
NM_000254.3(MTR):c.2562T>C (p.Ile854=)
NM_000254.3(MTR):c.2565A>G (p.Pro855=)
NM_000254.3(MTR):c.2569T>C (p.Leu857=)
NM_000254.3(MTR):c.2574T>C (p.Ile858=)
NM_000254.3(MTR):c.2594+10A>G
NM_000254.3(MTR):c.2594+11C>T
NM_000254.3(MTR):c.2594+18G>A rs1558329619
NM_000254.3(MTR):c.2594+19C>G
NM_000254.3(MTR):c.2594+1_2594+36dup
NM_000254.3(MTR):c.2594+20_2594+28dup
NM_000254.3(MTR):c.2594+5G>A
NM_000254.3(MTR):c.2595-2A>G rs1558334603
NM_000254.3(MTR):c.2595-3del
NM_000254.3(MTR):c.2595-8C>G
NM_000254.3(MTR):c.2595-8C>T
NM_000254.3(MTR):c.2598C>T (p.Thr866=)
NM_000254.3(MTR):c.2601C>T (p.His867=)
NM_000254.3(MTR):c.2631T>C (p.Ser877=)
NM_000254.3(MTR):c.2637T>C (p.Pro879=)
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
NM_000254.3(MTR):c.2655C>T (p.Asp885=)
NM_000254.3(MTR):c.2664G>A (p.Lys888=)
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg) rs1553326540
NM_000254.3(MTR):c.2669_2670del (p.Val890fs) rs794727395
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
NM_000254.3(MTR):c.2676+11G>A
NM_000254.3(MTR):c.2676+14C>G
NM_000254.3(MTR):c.2676+17A>C
NM_000254.3(MTR):c.2676+17A>G
NM_000254.3(MTR):c.2676+19A>G
NM_000254.3(MTR):c.2676+23dup
NM_000254.3(MTR):c.2676+8G>T
NM_000254.3(MTR):c.2677-10dup
NM_000254.3(MTR):c.2677-13C>T
NM_000254.3(MTR):c.2677-15A>G
NM_000254.3(MTR):c.2677-5T>G
NM_000254.3(MTR):c.2682C>T (p.Ser894=)
NM_000254.3(MTR):c.270A>G (p.Ala90=)
NM_000254.3(MTR):c.271G>C (p.Asp91His)
NM_000254.3(MTR):c.2727C>A (p.Ile909=)
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
NM_000254.3(MTR):c.2744A>T (p.Asp915Val) rs977928036
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2760T>C (p.His920=)
NM_000254.3(MTR):c.2775+17G>A
NM_000254.3(MTR):c.2775+19T>G
NM_000254.3(MTR):c.2775+1G>T
NM_000254.3(MTR):c.2775+4A>G
NM_000254.3(MTR):c.2775+7G>A
NM_000254.3(MTR):c.2776-11T>G
NM_000254.3(MTR):c.2776-6dup
NM_000254.3(MTR):c.2784A>G (p.Arg928=)
NM_000254.3(MTR):c.2787C>T (p.Tyr929=)
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) rs1666006480
NM_000254.3(MTR):c.2794T>C (p.Leu932=)
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
NM_000254.3(MTR):c.2802A>G (p.Gln934=) rs963291512
NM_000254.3(MTR):c.2805C>T (p.Ala935=)
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
NM_000254.3(MTR):c.2829T>C (p.Asp943=)
NM_000254.3(MTR):c.2851+13A>G
NM_000254.3(MTR):c.2851+2T>G rs2147922731
NM_000254.3(MTR):c.2851+8T>G
NM_000254.3(MTR):c.2852-11C>G
NM_000254.3(MTR):c.2852-13T>C
NM_000254.3(MTR):c.2852-15A>T
NM_000254.3(MTR):c.2852-17A>G
NM_000254.3(MTR):c.2852-18C>T
NM_000254.3(MTR):c.2852-4G>T
NM_000254.3(MTR):c.2852-7C>T rs1233643439
NM_000254.3(MTR):c.2856G>A (p.Lys952=)
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
NM_000254.3(MTR):c.2862G>A (p.Thr954=)
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
NM_000254.3(MTR):c.2868T>C (p.Ile956=)
NM_000254.3(MTR):c.2874C>A (p.Thr958=)
NM_000254.3(MTR):c.2874C>T (p.Thr958=)
NM_000254.3(MTR):c.2890T>C (p.Tyr964His) rs779579945
NM_000254.3(MTR):c.2892T>C (p.Tyr964=)
NM_000254.3(MTR):c.2898G>A (p.Leu966=)
NM_000254.3(MTR):c.2913C>T (p.Asp971=)
NM_000254.3(MTR):c.2919T>A (p.Ile973=)
NM_000254.3(MTR):c.2919T>C (p.Ile973=)
NM_000254.3(MTR):c.294T>C (p.Phe98=)
NM_000254.3(MTR):c.2967G>A (p.Pro989=)
NM_000254.3(MTR):c.2967G>T (p.Pro989=)
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
NM_000254.3(MTR):c.2970T>C (p.Asn990=)
NM_000254.3(MTR):c.2976C>T (p.Gly992=)
NM_000254.3(MTR):c.3007+15T>G
NM_000254.3(MTR):c.3007+1G>C
NM_000254.3(MTR):c.3007+20C>T
NM_000254.3(MTR):c.3007+7G>A
NM_000254.3(MTR):c.3008-13G>T
NM_000254.3(MTR):c.3008-15C>A
NM_000254.3(MTR):c.3008-19_3008-14del
NM_000254.3(MTR):c.3008-2A>G
NM_000254.3(MTR):c.3008-3T>C rs1286783552
NM_000254.3(MTR):c.3008-4A>G rs1224783275
NM_000254.3(MTR):c.3008-5A>G
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly) rs1666296405
NM_000254.3(MTR):c.3033T>C (p.Asp1011=)
NM_000254.3(MTR):c.3045T>C (p.Asn1015=)
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
NM_000254.3(MTR):c.3053dup (p.Asn1018fs) rs1400658126
NM_000254.3(MTR):c.3057A>G (p.Thr1019=) rs1394740700
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln) rs2147939390
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
NM_000254.3(MTR):c.3093G>C (p.Val1031=)
NM_000254.3(MTR):c.3093G>T (p.Val1031=)
NM_000254.3(MTR):c.30A>G (p.Gln10=)
NM_000254.3(MTR):c.3114G>A (p.Gln1038=)
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
NM_000254.3(MTR):c.3132T>C (p.Ile1044=)
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe) rs1572341910
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly) rs1666303969
NM_000254.3(MTR):c.3168A>G (p.Ala1056=)
NM_000254.3(MTR):c.3174C>T (p.Pro1058=)
NM_000254.3(MTR):c.3180C>T (p.Ala1060=)
NM_000254.3(MTR):c.3192G>A (p.Gly1064=)
NM_000254.3(MTR):c.3198G>A (p.Arg1066=)
NM_000254.3(MTR):c.3204+11T>C
NM_000254.3(MTR):c.3204+14A>G
NM_000254.3(MTR):c.3204+20A>G
NM_000254.3(MTR):c.3205-12C>T
NM_000254.3(MTR):c.3205-13C>T
NM_000254.3(MTR):c.3205-15C>T
NM_000254.3(MTR):c.3205-16A>G
NM_000254.3(MTR):c.3205-18A>G
NM_000254.3(MTR):c.3205-7T>C
NM_000254.3(MTR):c.3205-8G>C
NM_000254.3(MTR):c.3205-9G>A rs1666501324
NM_000254.3(MTR):c.3205-9G>T
NM_000254.3(MTR):c.3213G>A (p.Lys1071=)
NM_000254.3(MTR):c.3225C>T (p.Ser1075=)
NM_000254.3(MTR):c.3228G>A (p.Thr1076=)
NM_000254.3(MTR):c.3234A>G (p.Pro1078=)
NM_000254.3(MTR):c.3243C>T (p.Cys1081=)
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr) rs1666504883
NM_000254.3(MTR):c.3258C>T (p.Ile1086=)
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
NM_000254.3(MTR):c.3273T>G (p.Ser1091=)
NM_000254.3(MTR):c.3276C>T (p.Gly1092=)
NM_000254.3(MTR):c.327C>T (p.Gly109=)
NM_000254.3(MTR):c.3295C>T (p.Leu1099=)
NM_000254.3(MTR):c.3303C>T (p.Ala1101=)
NM_000254.3(MTR):c.3306T>A (p.Val1102=)
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu) rs1221565565
NM_000254.3(MTR):c.3318G>A (p.Gly1106=)
NM_000254.3(MTR):c.3321A>C (p.Val1107=)
NM_000254.3(MTR):c.3321A>G (p.Val1107=)
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys) rs1666509852
NM_000254.3(MTR):c.3327G>A (p.Glu1109=)
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
NM_000254.3(MTR):c.3345G>A (p.Glu1115=)
NM_000254.3(MTR):c.3357C>T (p.Asp1119=)
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
NM_000254.3(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.3(MTR):c.3384G>T (p.Ala1128=)
NM_000254.3(MTR):c.3394C>A (p.Arg1132=)
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln) rs1305962485
NM_000254.3(MTR):c.33C>T (p.Pro11=)
NM_000254.3(MTR):c.34+11G>C
NM_000254.3(MTR):c.34+13C>T
NM_000254.3(MTR):c.34+14C>T
NM_000254.3(MTR):c.34+15C>T
NM_000254.3(MTR):c.34+16C>A
NM_000254.3(MTR):c.34+19C>T
NM_000254.3(MTR):c.34+2T>C
NM_000254.3(MTR):c.34+9G>A
NM_000254.3(MTR):c.340-166A>C
NM_000254.3(MTR):c.340-20G>A
NM_000254.3(MTR):c.3405+17G>A
NM_000254.3(MTR):c.3405+19G>A
NM_000254.3(MTR):c.3405+21del
NM_000254.3(MTR):c.3405+6_3405+33dup
NM_000254.3(MTR):c.3406-12T>C
NM_000254.3(MTR):c.3406-2A>G
NM_000254.3(MTR):c.3406-4C>T
NM_000254.3(MTR):c.3414A>G (p.Ala1138=)
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
NM_000254.3(MTR):c.3444A>G (p.Glu1148=)
NM_000254.3(MTR):c.3453C>G (p.Ala1151=)
NM_000254.3(MTR):c.3465T>C (p.Ser1155=)
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
NM_000254.3(MTR):c.3480C>T (p.Val1160=)
NM_000254.3(MTR):c.349A>C (p.Met117Leu) rs143180799
NM_000254.3(MTR):c.349A>G (p.Met117Val) rs143180799
NM_000254.3(MTR):c.35-12C>T
NM_000254.3(MTR):c.35-14del
NM_000254.3(MTR):c.35-20A>G
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys) rs756440911
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro) rs778432496
NM_000254.3(MTR):c.3519G>A (p.Pro1173=)
NM_000254.3(MTR):c.3543C>T (p.Pro1181=)
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
NM_000254.3(MTR):c.3552C>G (p.Thr1184=) rs760793648
NM_000254.3(MTR):c.3564C>T (p.Thr1188=)
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
NM_000254.3(MTR):c.3576C>G (p.Leu1192=)
NM_000254.3(MTR):c.3585C>T (p.Ile1195=)
NM_000254.3(MTR):c.3588G>A (p.Glu1196=)
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro) rs2147955084
NM_000254.3(MTR):c.3598+13A>C
NM_000254.3(MTR):c.3598+18G>A
NM_000254.3(MTR):c.3598+19C>T
NM_000254.3(MTR):c.3598+20G>A
NM_000254.3(MTR):c.3599-14G>A
NM_000254.3(MTR):c.3599-14G>C
NM_000254.3(MTR):c.3599-17T>C
NM_000254.3(MTR):c.3599-4C>T
NM_000254.3(MTR):c.3599-5T>C
NM_000254.3(MTR):c.3599-6C>G rs2147960863
NM_000254.3(MTR):c.3599-8C>T
NM_000254.3(MTR):c.3600C>A (p.Gly1200=)
NM_000254.3(MTR):c.3600del (p.Ile1201fs) rs1346847201
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.3(MTR):c.3624A>G (p.Ala1208=)
NM_000254.3(MTR):c.3630A>T (p.Ala1210=)
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg) rs777562650
NM_000254.3(MTR):c.3678A>G (p.Lys1226=) rs2147961173
NM_000254.3(MTR):c.3693G>A (p.Gly1231=)
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
NM_000254.3(MTR):c.3699T>A (p.Ile1233=)
NM_000254.3(MTR):c.3711+10C>A
NM_000254.3(MTR):c.3711+10C>T
NM_000254.3(MTR):c.3711+15del
NM_000254.3(MTR):c.3711+20A>G
NM_000254.3(MTR):c.3711+22_3711+23del
NM_000254.3(MTR):c.3712-4G>A
NM_000254.3(MTR):c.3712-5del
NM_000254.3(MTR):c.3712-9C>A
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp) rs2147965312
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
NM_000254.3(MTR):c.3727T>C (p.Leu1243=)
NM_000254.3(MTR):c.3744T>G (p.Ser1248=)
NM_000254.3(MTR):c.3750T>C (p.Ala1250=)
NM_000254.3(MTR):c.375C>T (p.Ala125=)
NM_000254.3(MTR):c.3762A>G (p.Lys1254=)
NM_000254.3(MTR):c.381del (p.Ala128fs)
NM_000254.3(MTR):c.387C>A (p.Ala129=)
NM_000254.3(MTR):c.387C>T (p.Ala129=) rs575706892
NM_000254.3(MTR):c.399T>C (p.Thr133=)
NM_000254.3(MTR):c.402C>T (p.Leu134=)
NM_000254.3(MTR):c.409+14T>G
NM_000254.3(MTR):c.409+15_409+17del rs750828089
NM_000254.3(MTR):c.409+17T>C
NM_000254.3(MTR):c.409+25dup
NM_000254.3(MTR):c.426G>C (p.Val142=)
NM_000254.3(MTR):c.447T>A (p.Thr149=)
NM_000254.3(MTR):c.452A>G (p.Lys151Arg) rs2103039190
NM_000254.3(MTR):c.468C>T (p.Ser156=)
NM_000254.3(MTR):c.471A>G (p.Pro157=) rs931152176
NM_000254.3(MTR):c.471A>T (p.Pro157=)
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
NM_000254.3(MTR):c.502+14A>G
NM_000254.3(MTR):c.502+16A>C
NM_000254.3(MTR):c.502+21_502+24dup
NM_000254.3(MTR):c.503-14T>C
NM_000254.3(MTR):c.503-15A>T
NM_000254.3(MTR):c.503-2A>G
NM_000254.3(MTR):c.504A>C (p.Thr168=)
NM_000254.3(MTR):c.504A>G (p.Thr168=)
NM_000254.3(MTR):c.507T>C (p.Phe169=)
NM_000254.3(MTR):c.510T>C (p.Asp170=)
NM_000254.3(MTR):c.546A>G (p.Gly182=)
NM_000254.3(MTR):c.573dup (p.Leu192fs)
NM_000254.3(MTR):c.606C>T (p.Ala202=)
NM_000254.3(MTR):c.609+1088G>A rs752526782
NM_000254.3(MTR):c.609+14G>C
NM_000254.3(MTR):c.609+14G>T
NM_000254.3(MTR):c.609+16A>G
NM_000254.3(MTR):c.609+20dup
NM_000254.3(MTR):c.610-10del
NM_000254.3(MTR):c.610-12T>C
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000254.3(MTR):c.610-1_613dup
NM_000254.3(MTR):c.610-6T>C rs769743026
NM_000254.3(MTR):c.610-6T>G
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
NM_000254.3(MTR):c.617del (p.Leu206fs)
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
NM_000254.3(MTR):c.627C>A (p.Leu209=)
NM_000254.3(MTR):c.630A>G (p.Gln210=)
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
NM_000254.3(MTR):c.651T>C (p.Tyr217=)
NM_000254.3(MTR):c.660G>A (p.Arg220=)
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
NM_000254.3(MTR):c.669+12dup
NM_000254.3(MTR):c.670-11T>C
NM_000254.3(MTR):c.670-20T>C
NM_000254.3(MTR):c.670-20T>G
NM_000254.3(MTR):c.681G>A (p.Thr227=)
NM_000254.3(MTR):c.684C>A (p.Ile228=)
NM_000254.3(MTR):c.699G>A (p.Gly233=)
NM_000254.3(MTR):c.6A>G (p.Ser2=)
NM_000254.3(MTR):c.702G>A (p.Arg234=)
NM_000254.3(MTR):c.726G>A (p.Glu242=)
NM_000254.3(MTR):c.741C>T (p.Ser247=)
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.3(MTR):c.750T>C (p.His250=)
NM_000254.3(MTR):c.761T>A (p.Leu254His) rs2103062352
NM_000254.3(MTR):c.762C>T (p.Leu254=) rs1661602756
NM_000254.3(MTR):c.764+7G>A
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
NM_000254.3(MTR):c.765-12C>G
NM_000254.3(MTR):c.765-13dup
NM_000254.3(MTR):c.765-4C>T
NM_000254.3(MTR):c.765-5T>C
NM_000254.3(MTR):c.786G>A (p.Leu262=)
NM_000254.3(MTR):c.792A>G (p.Ala264=)
NM_000254.3(MTR):c.80A>G (p.Gln27Arg) rs1039659576
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000254.3(MTR):c.834A>G (p.Thr278=)
NM_000254.3(MTR):c.865+10T>C
NM_000254.3(MTR):c.865+12A>G rs2103095649
NM_000254.3(MTR):c.865+18G>T
NM_000254.3(MTR):c.865+18dup
NM_000254.3(MTR):c.865+1GT[3] rs2103095576
NM_000254.3(MTR):c.865+7G>T
NM_000254.3(MTR):c.866-13T>G
NM_000254.3(MTR):c.866-16A>C
NM_000254.3(MTR):c.866-2A>C
NM_000254.3(MTR):c.866-6T>C
NM_000254.3(MTR):c.866-8T>C
NM_000254.3(MTR):c.873C>G (p.Pro291=)
NM_000254.3(MTR):c.877A>G (p.Thr293Ala) rs2103101092
NM_000254.3(MTR):c.879C>T (p.Thr293=)
NM_000254.3(MTR):c.888C>T (p.Asp296=)
NM_000254.3(MTR):c.894T>C (p.Asp298=)
NM_000254.3(MTR):c.899dup (p.Pro301fs)
NM_000254.3(MTR):c.900G>A (p.Thr300=)
NM_000254.3(MTR):c.901C>T (p.Pro301Ser) rs766371534
NM_000254.3(MTR):c.906T>C (p.Ser302=)
NM_000254.3(MTR):c.907A>G (p.Met303Val)
NM_000254.3(MTR):c.915C>T (p.Ala305=)
NM_000254.3(MTR):c.920dup (p.His307fs)
NM_000254.3(MTR):c.924A>G (p.Leu308=)
NM_000254.3(MTR):c.927+10C>A
NM_000254.3(MTR):c.927+11C>A
NM_000254.3(MTR):c.927+14dup
NM_000254.3(MTR):c.927+18C>G
NM_000254.3(MTR):c.927+1G>A
NM_000254.3(MTR):c.927+1G>C rs1572218599
NM_000254.3(MTR):c.927+20C>T
NM_000254.3(MTR):c.927+20del
NM_000254.3(MTR):c.927+7G>A
NM_000254.3(MTR):c.928-18G>A
NM_000254.3(MTR):c.928-19T>G
NM_000254.3(MTR):c.928-9T>A
NM_000254.3(MTR):c.963A>C (p.Gly321=)
NM_000254.3(MTR):c.975G>A (p.Gly325=)
NM_000254.3(MTR):c.981A>C (p.Thr327=)
NM_000254.3(MTR):c.984A>G (p.Pro328=)
NM_000254.3(MTR):c.987T>C (p.Asp329=)
NM_000254.3(MTR):c.995+14A>G
NM_000254.3(MTR):c.995+19C>T
NM_000254.3(MTR):c.996-12C>T
NM_000254.3(MTR):c.996-14C>T
NM_000254.3(MTR):c.99G>A (p.Leu33=)
NM_000254.3(MTR):c.9C>T (p.Pro3=) rs201975748
NM_000289.5(PFKM):c.-176C>T rs886049451
NM_000289.5(PFKM):c.-64C>T rs886049452
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*163G>A rs370250637
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*564G>A rs1951034681
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.-8-2A>G
NM_000289.6(PFKM):c.1002T>C (p.Cys334=)
NM_000289.6(PFKM):c.1017T>C (p.Ser339=) rs2135957213
NM_000289.6(PFKM):c.1020T>C (p.Gly340=) rs2135957243
NM_000289.6(PFKM):c.1023C>T (p.Asn341=) rs2135957291
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp)
NM_000289.6(PFKM):c.1029T>A (p.Ala343=) rs2135957401
NM_000289.6(PFKM):c.1029T>C (p.Ala343=)
NM_000289.6(PFKM):c.1032G>A (p.Val344=) rs1329869497
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
NM_000289.6(PFKM):c.1035C>T (p.Arg345=)
NM_000289.6(PFKM):c.1036C>T (p.Leu346=)
NM_000289.6(PFKM):c.103dup (p.Arg35fs)
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) rs1203659685
NM_000289.6(PFKM):c.1053del (p.Cys351fs)
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu)
NM_000289.6(PFKM):c.1062+14C>T
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1062+20C>T
NM_000289.6(PFKM):c.1062+2T>C rs2135957798
NM_000289.6(PFKM):c.1062+8C>T
NM_000289.6(PFKM):c.1062+9T>C
NM_000289.6(PFKM):c.1062G>T (p.Val354=)
NM_000289.6(PFKM):c.1063-10C>A
NM_000289.6(PFKM):c.1063-10C>T
NM_000289.6(PFKM):c.1063-18G>C
NM_000289.6(PFKM):c.1063-20T>A
NM_000289.6(PFKM):c.1063-5del
NM_000289.6(PFKM):c.1063-5dup
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1063-6C>G rs371033104
NM_000289.6(PFKM):c.1063-6C>T rs371033104
NM_000289.6(PFKM):c.1063-7C>A
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1063-8C>T
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn)
NM_000289.6(PFKM):c.1077C>G (p.Thr359=) rs2135975682
NM_000289.6(PFKM):c.1077C>T (p.Thr359=)
NM_000289.6(PFKM):c.1080G>A (p.Lys360=)
NM_000289.6(PFKM):c.108T>C (p.Ala36=) rs1949346132
NM_000289.6(PFKM):c.1091del (p.Glu364fs)
NM_000289.6(PFKM):c.1113G>A (p.Leu371=) rs2135976209
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu) rs1950380994
NM_000289.6(PFKM):c.1122A>G (p.Arg374=)
NM_000289.6(PFKM):c.1127+10T>A
NM_000289.6(PFKM):c.1127+14G>A
NM_000289.6(PFKM):c.1127+19G>A
NM_000289.6(PFKM):c.1127+19G>T
NM_000289.6(PFKM):c.1127+1G>T rs2135976459
NM_000289.6(PFKM):c.1127+6G>T
NM_000289.6(PFKM):c.1127+7A>G rs2135976553
NM_000289.6(PFKM):c.1127+8G>A rs2135976581
NM_000289.6(PFKM):c.1127+9A>C rs2135976634
NM_000289.6(PFKM):c.1128-10C>A rs2135982206
NM_000289.6(PFKM):c.1128-10C>T rs2135982206
NM_000289.6(PFKM):c.1128-15T>C
NM_000289.6(PFKM):c.1128-16T>A
NM_000289.6(PFKM):c.1128-17A>G
NM_000289.6(PFKM):c.1128-18T>C
NM_000289.6(PFKM):c.1128-19_1128-16del
NM_000289.6(PFKM):c.1128-2A>G
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)
NM_000289.6(PFKM):c.114T>C (p.Val38=)
NM_000289.6(PFKM):c.1152G>A (p.Val384=)
NM_000289.6(PFKM):c.1159del (p.Leu387fs)
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.1161T>C (p.Leu387=) rs1950427025
NM_000289.6(PFKM):c.1164A>G (p.Leu388=) rs2135982704
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) rs121918193
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser)
NM_000289.6(PFKM):c.1182G>A (p.Pro394=) rs372189049
NM_000289.6(PFKM):c.1191+11G>T
NM_000289.6(PFKM):c.1191+12T>G rs2135983216
NM_000289.6(PFKM):c.1191+13T>G
NM_000289.6(PFKM):c.1191+3A>G
NM_000289.6(PFKM):c.1192-10T>C
NM_000289.6(PFKM):c.1192-11C>T
NM_000289.6(PFKM):c.1192-12C>G
NM_000289.6(PFKM):c.1192-19C>T
NM_000289.6(PFKM):c.1192-2A>G
NM_000289.6(PFKM):c.1192-3_1192-2del rs780969059
NM_000289.6(PFKM):c.1192-5T>C rs778432092
NM_000289.6(PFKM):c.1192-6G>C
NM_000289.6(PFKM):c.1192-9C>T
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn)
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala)
NM_000289.6(PFKM):c.1209G>A (p.Val403=)
NM_000289.6(PFKM):c.1221C>T (p.Asn407=) rs764231757
NM_000289.6(PFKM):c.1224G>C (p.Val408=) rs762040245
NM_000289.6(PFKM):c.1224G>T (p.Val408=)
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val)
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs)
NM_000289.6(PFKM):c.1248T>C (p.Asn416=)
NM_000289.6(PFKM):c.1254T>G (p.Ala418=) rs1592789513
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile) rs1266995508
NM_000289.6(PFKM):c.1266T>C (p.Thr422=)
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
NM_000289.6(PFKM):c.1281T>C (p.Leu427=)
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
NM_000289.6(PFKM):c.1293C>T (p.Asn431=) rs1325830143
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) rs374824469
NM_000289.6(PFKM):c.1302C>G (p.Leu434=)
NM_000289.6(PFKM):c.1302C>T (p.Leu434=) rs1217619963
NM_000289.6(PFKM):c.1314T>C (p.Asp438=)
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1338del (p.Gln447fs) rs2135995131
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser)
NM_000289.6(PFKM):c.1341+1G>A
NM_000289.6(PFKM):c.1341+1G>C
NM_000289.6(PFKM):c.1341+1G>T rs755419857
NM_000289.6(PFKM):c.1341+8del rs2135995386
NM_000289.6(PFKM):c.1342-13C>T
NM_000289.6(PFKM):c.1342-15G>A
NM_000289.6(PFKM):c.1342-1G>C
NM_000289.6(PFKM):c.1342-7C>T rs1592793920
NM_000289.6(PFKM):c.1342-8C>T
NM_000289.6(PFKM):c.1342-9del rs2136000813
NM_000289.6(PFKM):c.1344_1345insAA (p.Glu449fs)
NM_000289.6(PFKM):c.1347G>A (p.Glu449=) rs1383781379
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)
NM_000289.6(PFKM):c.1383C>T (p.Gly461=)
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs)
NM_000289.6(PFKM):c.1392C>T (p.Gly464=)
NM_000289.6(PFKM):c.1407T>C (p.Thr469=)
NM_000289.6(PFKM):c.1412+11C>G
NM_000289.6(PFKM):c.1412+14C>T
NM_000289.6(PFKM):c.1412+16G>T
NM_000289.6(PFKM):c.1412+17A>C
NM_000289.6(PFKM):c.1412+19G>T
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1412+20C>T
NM_000289.6(PFKM):c.1412+2T>C
NM_000289.6(PFKM):c.1412+9C>T rs2136001614
NM_000289.6(PFKM):c.1413-16A>G
NM_000289.6(PFKM):c.1413-19G>A
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.1413-5A>T rs2136006212
NM_000289.6(PFKM):c.1413-64A>G rs1202417178
NM_000289.6(PFKM):c.1416T>C (p.Thr472=) rs1950594557
NM_000289.6(PFKM):c.1417C>T (p.Leu473=) rs1950594770
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg)
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe)
NM_000289.6(PFKM):c.1443C>T (p.Ile481=) rs2136006513
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser)
NM_000289.6(PFKM):c.1452T>C (p.Asn484=)
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val)
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)
NM_000289.6(PFKM):c.147C>T (p.Phe49=)
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
NM_000289.6(PFKM):c.1491G>C (p.Gly497=)
NM_000289.6(PFKM):c.1493del (p.Gly498fs)
NM_000289.6(PFKM):c.1500+14A>G
NM_000289.6(PFKM):c.1500+15C>T
NM_000289.6(PFKM):c.1500+2T>A
NM_000289.6(PFKM):c.1500+9C>T rs1315594001
NM_000289.6(PFKM):c.1501-12TCT[2] rs1230657170
NM_000289.6(PFKM):c.1501-2del rs1410122696
NM_000289.6(PFKM):c.1501-5C>A
NM_000289.6(PFKM):c.1501-8C>T
NM_000289.6(PFKM):c.1503T>A (p.Ala501=) rs1421392490
NM_000289.6(PFKM):c.1503T>G (p.Ala501=) rs1421392490
NM_000289.6(PFKM):c.1506C>T (p.Tyr502=) rs2136008624
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val) rs774891977
NM_000289.6(PFKM):c.1521A>G (p.Glu507=) rs1592800238
NM_000289.6(PFKM):c.1522C>T (p.Leu508=)
NM_000289.6(PFKM):c.1530G>A (p.Glu510=)
NM_000289.6(PFKM):c.1557C>T (p.Cys519=)
NM_000289.6(PFKM):c.1563A>G (p.Pro521=) rs2136009337
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser)
NM_000289.6(PFKM):c.156T>C (p.His52=)
NM_000289.6(PFKM):c.1581T>C (p.Ala527=)
NM_000289.6(PFKM):c.1587C>T (p.Val529=) rs1406744971
NM_000289.6(PFKM):c.159+11T>C
NM_000289.6(PFKM):c.159+14T>C
NM_000289.6(PFKM):c.159+16T>C
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.1596T>C (p.Asn532=)
NM_000289.6(PFKM):c.1599C>A (p.Val533=) rs1308260209
NM_000289.6(PFKM):c.15G>A (p.Glu5=)
NM_000289.6(PFKM):c.160-11G>A
NM_000289.6(PFKM):c.160-13A>C
NM_000289.6(PFKM):c.160-13A>G
NM_000289.6(PFKM):c.160-13A>T
NM_000289.6(PFKM):c.160-14A>G
NM_000289.6(PFKM):c.160-16A>G
NM_000289.6(PFKM):c.160-18G>A
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.160-4A>G
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) rs866260025
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
NM_000289.6(PFKM):c.1626T>C (p.Ala542=) rs2136010141
NM_000289.6(PFKM):c.1632A>G (p.Thr544=) rs2136010299
NM_000289.6(PFKM):c.1644T>C (p.Thr548=)
NM_000289.6(PFKM):c.1647C>A (p.Ile549=) rs780042405
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg) rs1950621584
NM_000289.6(PFKM):c.1653+12T>A
NM_000289.6(PFKM):c.1653+15C>T
NM_000289.6(PFKM):c.1653+19T>C
NM_000289.6(PFKM):c.1653+2T>G
NM_000289.6(PFKM):c.1653+7G>A
NM_000289.6(PFKM):c.1653+8C>G rs369425921
NM_000289.6(PFKM):c.1653+9C>A rs1442520537
NM_000289.6(PFKM):c.1654-20A>G
NM_000289.6(PFKM):c.1654-54_1654-46del
NM_000289.6(PFKM):c.1654-5T>C
NM_000289.6(PFKM):c.1654-7C>T
NM_000289.6(PFKM):c.1656del (p.Cys553fs)
NM_000289.6(PFKM):c.1659T>C (p.Cys553=) rs2136019328
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter) rs2135856711
NM_000289.6(PFKM):c.1695T>C (p.Arg565=)
NM_000289.6(PFKM):c.1701G>A (p.Val567=) rs2136019645
NM_000289.6(PFKM):c.1704del (p.Phe568fs) rs2136019667
NM_000289.6(PFKM):c.1707C>A (p.Ile569=)
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
NM_000289.6(PFKM):c.1713G>A (p.Glu571=)
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
NM_000289.6(PFKM):c.171C>A (p.Gly57=) rs1949456909
NM_000289.6(PFKM):c.171C>T (p.Gly57=)
NM_000289.6(PFKM):c.1721del (p.Gly574fs)
NM_000289.6(PFKM):c.1725C>T (p.Gly575=)
NM_000289.6(PFKM):c.1728C>T (p.Tyr576=)
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs)
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val)
NM_000289.6(PFKM):c.1746C>T (p.Thr582=) rs2136020208
NM_000289.6(PFKM):c.1761A>C (p.Ala587=)
NM_000289.6(PFKM):c.1761del (p.Ala588fs) rs2136020407
NM_000289.6(PFKM):c.1767G>C (p.Gly589=)
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
NM_000289.6(PFKM):c.1779C>G (p.Ala593=) rs1592808888
NM_000289.6(PFKM):c.1791G>A (p.Glu597=)
NM_000289.6(PFKM):c.1797C>T (p.Pro599=)
NM_000289.6(PFKM):c.1803C>T (p.Thr601=)
NM_000289.6(PFKM):c.1807C>A (p.Arg603=)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln)
NM_000289.6(PFKM):c.1812C>T (p.Asp604=)
NM_000289.6(PFKM):c.1818+13C>A
NM_000289.6(PFKM):c.1818+15A>G
NM_000289.6(PFKM):c.1818+17del
NM_000289.6(PFKM):c.1818+19C>A
NM_000289.6(PFKM):c.1819-9C>A rs755585302
NM_000289.6(PFKM):c.1819-9C>G
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala)
NM_000289.6(PFKM):c.1827del (p.Glu610fs)
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs)
NM_000289.6(PFKM):c.1834C>T (p.Leu612=) rs2136032182
NM_000289.6(PFKM):c.1842A>G (p.Gln614=)
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs)
NM_000289.6(PFKM):c.1866G>A (p.Arg622=)
NM_000289.6(PFKM):c.186A>C (p.Gly62=) rs750471184
NM_000289.6(PFKM):c.1875G>A (p.Val625=) rs1321101853
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1880+11C>G
NM_000289.6(PFKM):c.1880+12A>G
NM_000289.6(PFKM):c.1880+13T>C
NM_000289.6(PFKM):c.1880+19G>C
NM_000289.6(PFKM):c.1880+19G>T
NM_000289.6(PFKM):c.1880+3A>G
NM_000289.6(PFKM):c.1880+5C>G
NM_000289.6(PFKM):c.1881-17del
NM_000289.6(PFKM):c.1881-8C>T rs779486479
NM_000289.6(PFKM):c.1884T>C (p.Asn628=) rs2136035977
NM_000289.6(PFKM):c.1896T>C (p.Asn632=)
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu)
NM_000289.6(PFKM):c.18C>T (p.His6=)
NM_000289.6(PFKM):c.1902C>T (p.Asn634=)
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
NM_000289.6(PFKM):c.1905T>C (p.Tyr635=)
NM_000289.6(PFKM):c.1908C>G (p.Thr636=)
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer) rs1592818641
NM_000289.6(PFKM):c.192C>T (p.His64=) rs2135857209
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=) rs1950814614
NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)
NM_000289.6(PFKM):c.1938G>A (p.Glu646=)
NM_000289.6(PFKM):c.1941G>A (p.Glu647=) rs2136036321
NM_000289.6(PFKM):c.1947G>A (p.Lys649=)
NM_000289.6(PFKM):c.1953C>A (p.Ile651=)
NM_000289.6(PFKM):c.1962C>T (p.Ser654=)
NM_000289.6(PFKM):c.1989G>A (p.Gln663=)
NM_000289.6(PFKM):c.1992+13C>G
NM_000289.6(PFKM):c.1992+13C>T
NM_000289.6(PFKM):c.1992+14C>A
NM_000289.6(PFKM):c.1992+14C>T
NM_000289.6(PFKM):c.1992+15G>A
NM_000289.6(PFKM):c.1992+17A>G
NM_000289.6(PFKM):c.1992+1G>T
NM_000289.6(PFKM):c.1992+20C>A
NM_000289.6(PFKM):c.1992+20C>T
NM_000289.6(PFKM):c.1993-16A>G
NM_000289.6(PFKM):c.1993-16_1993-15del
NM_000289.6(PFKM):c.1995T>C (p.Gly665=) rs770758369
NM_000289.6(PFKM):c.2001C>T (p.Ser667=)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2007C>A (p.Thr669=)
NM_000289.6(PFKM):c.2019G>A (p.Arg673=) rs1950913988
NM_000289.6(PFKM):c.201A>G (p.Glu67=)
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp)
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
NM_000289.6(PFKM):c.2043C>A (p.Ala681=)
NM_000289.6(PFKM):c.2043C>T (p.Ala681=)
NM_000289.6(PFKM):c.2046G>A (p.Lys682=)
NM_000289.6(PFKM):c.2047_2092+14del
NM_000289.6(PFKM):c.204C>T (p.Ala68=) rs2135857231
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs)
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.2064T>G (p.Ser688=)
NM_000289.6(PFKM):c.2070A>G (p.Lys690=)
NM_000289.6(PFKM):c.2073C>A (p.Ile691=)
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs) rs2136049056
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln)
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) rs1233958453
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys)
NM_000289.6(PFKM):c.2092+10del
NM_000289.6(PFKM):c.2092+12G>A
NM_000289.6(PFKM):c.2092+18G>A
NM_000289.6(PFKM):c.2092+20G>A
NM_000289.6(PFKM):c.2092+2T>C
NM_000289.6(PFKM):c.2092+7G>A rs2136049384
NM_000289.6(PFKM):c.2092+8G>A rs2136049447
NM_000289.6(PFKM):c.2092+9G>A rs371778846
NM_000289.6(PFKM):c.2093-33G>C
NM_000289.6(PFKM):c.2093-5T>C rs2136050932
NM_000289.6(PFKM):c.2093-6T>C
NM_000289.6(PFKM):c.2093-7A>C
NM_000289.6(PFKM):c.2093-8C>T
NM_000289.6(PFKM):c.20A>G (p.His7Arg)
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met) rs2136051089
NM_000289.6(PFKM):c.2106C>T (p.Ala702=)
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile) rs1950938419
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)
NM_000289.6(PFKM):c.2124C>G (p.Gly708=)
NM_000289.6(PFKM):c.2127T>C (p.Cys709=) rs2136051296
NM_000289.6(PFKM):c.2133G>A (p.Leu711=)
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp)
NM_000289.6(PFKM):c.2161C>G (p.Gln721Glu)
NM_000289.6(PFKM):c.2166A>G (p.Pro722=) rs2136051603
NM_000289.6(PFKM):c.2169G>A (p.Val723=)
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys) rs1176082291
NM_000289.6(PFKM):c.2175G>A (p.Glu725=)
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
NM_000289.6(PFKM):c.2184C>T (p.Asp728=)
NM_000289.6(PFKM):c.2190A>G (p.Thr730=) rs926218950
NM_000289.6(PFKM):c.2190A>T (p.Thr730=)
NM_000289.6(PFKM):c.2198+8C>T
NM_000289.6(PFKM):c.2198+9A>C
NM_000289.6(PFKM):c.2198+9A>G
NM_000289.6(PFKM):c.2199-15C>T
NM_000289.6(PFKM):c.2199-16C>T
NM_000289.6(PFKM):c.2199-5T>C
NM_000289.6(PFKM):c.2199-8C>T
NM_000289.6(PFKM):c.2199-9C>T rs2136054913
NM_000289.6(PFKM):c.21T>C (p.His7=) rs2137860144
NM_000289.6(PFKM):c.21dup (p.Ala8fs)
NM_000289.6(PFKM):c.2202T>G (p.His734Gln)
NM_000289.6(PFKM):c.2211C>G (p.Pro737=) rs1165739164
NM_000289.6(PFKM):c.2217A>G (p.Glu739=) rs1950977568
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg) rs1950977797
NM_000289.6(PFKM):c.2220G>A (p.Gln740=)
NM_000289.6(PFKM):c.222G>T (p.Ser74=) rs754074132
NM_000289.6(PFKM):c.2234dup (p.Arg746fs)
NM_000289.6(PFKM):c.2236A>C (p.Arg746=) rs1592832534
NM_000289.6(PFKM):c.2241C>A (p.Pro747=)
NM_000289.6(PFKM):c.2241C>T (p.Pro747=) rs1350195023
NM_000289.6(PFKM):c.2244C>A (p.Ile748=)
NM_000289.6(PFKM):c.2247C>T (p.Leu749=)
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met)
NM_000289.6(PFKM):c.2259C>T (p.Ala753=)
NM_000289.6(PFKM):c.2262G>A (p.Lys754=)
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys)
NM_000289.6(PFKM):c.2268G>A (p.Glu756=) rs2136055950
NM_000289.6(PFKM):c.2271T>C (p.Ile757=)
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu) rs1950983081
NM_000289.6(PFKM):c.2277G>A (p.Leu759=) rs1430120826
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser) rs1592832922
NM_000289.6(PFKM):c.2283T>C (p.Thr761=)
NM_000289.6(PFKM):c.2286A>G (p.Ser762=) rs1592832978
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn)
NM_000289.6(PFKM):c.2298C>T (p.His766=)
NM_000289.6(PFKM):c.2307C>T (p.His769=)
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
NM_000289.6(PFKM):c.2313C>T (p.Thr771=)
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln)
NM_000289.6(PFKM):c.2322G>A (p.Arg774=) rs2136056634
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg)
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
NM_000289.6(PFKM):c.2334T>A (p.Ala778=) rs8716
NM_000289.6(PFKM):c.2337C>G (p.Ala779=) rs748647298
NM_000289.6(PFKM):c.237+17T>C
NM_000289.6(PFKM):c.237+1G>C rs202143236
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG
NM_000289.6(PFKM):c.237+8C>T
NM_000289.6(PFKM):c.238-12C>T
NM_000289.6(PFKM):c.238-13A>G
NM_000289.6(PFKM):c.238-20G>A
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.262C>A (p.Arg88=)
NM_000289.6(PFKM):c.264G>A (p.Arg88=)
NM_000289.6(PFKM):c.277C>A (p.Arg93=)
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.290del (p.Gly97fs)
NM_000289.6(PFKM):c.291A>C (p.Gly97=) rs2135884772
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln)
NM_000289.6(PFKM):c.297C>T (p.Leu99=) rs1181881387
NM_000289.6(PFKM):c.309C>T (p.Tyr103=) rs2135885049
NM_000289.6(PFKM):c.31dup (p.Thr11fs)
NM_000289.6(PFKM):c.321G>A (p.Lys107=)
NM_000289.6(PFKM):c.321G>C (p.Lys107Asn)
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser) rs1592727517
NM_000289.6(PFKM):c.34C>T (p.Leu12=)
NM_000289.6(PFKM):c.354T>A (p.Gly118=)
NM_000289.6(PFKM):c.354T>C (p.Gly118=) rs1187514309
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.363C>T (p.Ser121=)
NM_000289.6(PFKM):c.366C>T (p.Leu122=) rs2135886000
NM_000289.6(PFKM):c.369T>G (p.Thr123=) rs1592727757
NM_000289.6(PFKM):c.372G>A (p.Gly124=)
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp)
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs) rs2135886253
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys)
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu)
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
NM_000289.6(PFKM):c.399_400del (p.Ser133fs)
NM_000289.6(PFKM):c.417C>A (p.Leu139=)
NM_000289.6(PFKM):c.427+17A>T
NM_000289.6(PFKM):c.427+20A>G
NM_000289.6(PFKM):c.427+9G>A
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser)
NM_000289.6(PFKM):c.428-10T>C rs2135891586
NM_000289.6(PFKM):c.428-20G>C
NM_000289.6(PFKM):c.428-2A>C rs895690691
NM_000289.6(PFKM):c.428-5G>T
NM_000289.6(PFKM):c.428-6T>C rs2135891715
NM_000289.6(PFKM):c.428-7T>C
NM_000289.6(PFKM):c.428-9C>T
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr)
NM_000289.6(PFKM):c.438A>G (p.Thr146=)
NM_000289.6(PFKM):c.438A>T (p.Thr146=) rs2135892064
NM_000289.6(PFKM):c.452C>T (p.Thr151Met)
NM_000289.6(PFKM):c.453G>C (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.465_466del (p.Leu156fs)
NM_000289.6(PFKM):c.489G>T (p.Gly163=)
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
NM_000289.6(PFKM):c.492A>C (p.Ser164=)
NM_000289.6(PFKM):c.507C>T (p.Phe169=) rs777395109
NM_000289.6(PFKM):c.512G>T (p.Gly171Val)
NM_000289.6(PFKM):c.531C>A (p.Gly177=)
NM_000289.6(PFKM):c.534T>C (p.Thr178=) rs146157053
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
NM_000289.6(PFKM):c.543C>T (p.Ala181=) rs1370905542
NM_000289.6(PFKM):c.549T>C (p.His183=)
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln)
NM_000289.6(PFKM):c.552G>T (p.Arg184=) rs976955357
NM_000289.6(PFKM):c.558G>A (p.Met186Ile)
NM_000289.6(PFKM):c.564T>C (p.Ile188=) rs1949732821
NM_000289.6(PFKM):c.573C>T (p.Ala191=) rs2135894032
NM_000289.6(PFKM):c.582C>T (p.Thr194=)
NM_000289.6(PFKM):c.582del (p.Thr195fs)
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)
NM_000289.6(PFKM):c.593+10C>G rs1949737425
NM_000289.6(PFKM):c.593+12T>A
NM_000289.6(PFKM):c.593+15G>A
NM_000289.6(PFKM):c.593+18G>A
NM_000289.6(PFKM):c.593+18G>C
NM_000289.6(PFKM):c.593+8G>A rs2135894357
NM_000289.6(PFKM):c.594-11A>G
NM_000289.6(PFKM):c.594-12T>C
NM_000289.6(PFKM):c.594-12dup
NM_000289.6(PFKM):c.594-13C>T
NM_000289.6(PFKM):c.594-14T>A
NM_000289.6(PFKM):c.594-16T>C
NM_000289.6(PFKM):c.594-17A>C
NM_000289.6(PFKM):c.594-17_594-16del
NM_000289.6(PFKM):c.594-18T>C
NM_000289.6(PFKM):c.594-19A>G
NM_000289.6(PFKM):c.594-1G>A
NM_000289.6(PFKM):c.594-20C>T
NM_000289.6(PFKM):c.594-4G>A rs774807994
NM_000289.6(PFKM):c.594-5T>C
NM_000289.6(PFKM):c.594-7C>T rs1458751002
NM_000289.6(PFKM):c.601A>C (p.Arg201=)
NM_000289.6(PFKM):c.606A>G (p.Thr202=) rs2135907037
NM_000289.6(PFKM):c.619G>C (p.Val207Leu)
NM_000289.6(PFKM):c.627C>A (p.Gly209=) rs930544072
NM_000289.6(PFKM):c.627C>G (p.Gly209=) rs930544072
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys)
NM_000289.6(PFKM):c.631dup (p.His211fs)
NM_000289.6(PFKM):c.638+12A>C
NM_000289.6(PFKM):c.638+161C>T rs2286021
NM_000289.6(PFKM):c.638+18A>C
NM_000289.6(PFKM):c.638+18A>G
NM_000289.6(PFKM):c.638+1G>T
NM_000289.6(PFKM):c.638+4A>G
NM_000289.6(PFKM):c.638+7T>A
NM_000289.6(PFKM):c.639-10C>G rs2135915213
NM_000289.6(PFKM):c.639-17T>C
NM_000289.6(PFKM):c.639-7A>T
NM_000289.6(PFKM):c.639-8C>T
NM_000289.6(PFKM):c.646dup (p.Ala216fs) rs2135915377
NM_000289.6(PFKM):c.657C>T (p.Thr219=)
NM_000289.6(PFKM):c.660T>C (p.Ser220=)
NM_000289.6(PFKM):c.666C>T (p.Ser222=) rs1249664880
NM_000289.6(PFKM):c.687T>C (p.Phe229=) rs2135915804
NM_000289.6(PFKM):c.702A>C (p.Pro234=) rs138022863
NM_000289.6(PFKM):c.702A>G (p.Pro234=) rs138022863
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
NM_000289.6(PFKM):c.708T>C (p.Asp236=)
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn)
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala) rs1948422341
NM_000289.6(PFKM):c.720G>A (p.Glu240=)
NM_000289.6(PFKM):c.732T>C (p.Cys244=) rs1406800853
NM_000289.6(PFKM):c.735C>T (p.Arg245=) rs2135916916
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) rs866904446
NM_000289.6(PFKM):c.747+10C>G
NM_000289.6(PFKM):c.747+19_747+24del
NM_000289.6(PFKM):c.747+7_747+12del
NM_000289.6(PFKM):c.747+8C>T
NM_000289.6(PFKM):c.747+9A>G rs2135917272
NM_000289.6(PFKM):c.748-18C>T
NM_000289.6(PFKM):c.748-19A>G
NM_000289.6(PFKM):c.748-4C>T rs2135919001
NM_000289.6(PFKM):c.748-6A>G rs2135918960
NM_000289.6(PFKM):c.74G>T (p.Gly25Val)
NM_000289.6(PFKM):c.74del (p.Gly25fs) rs2137862074
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys)
NM_000289.6(PFKM):c.765T>G (p.Ser255=)
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys)
NM_000289.6(PFKM):c.768T>C (p.Arg256=)
NM_000289.6(PFKM):c.774C>T (p.Asn258=) rs894740706
NM_000289.6(PFKM):c.777C>T (p.Ile259=) rs2135919616
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.780_783del (p.Ile260fs)
NM_000289.6(PFKM):c.783T>A (p.Ile261=)
NM_000289.6(PFKM):c.783T>C (p.Ile261=)
NM_000289.6(PFKM):c.786G>A (p.Val262=)
NM_000289.6(PFKM):c.789T>C (p.Ala263=)
NM_000289.6(PFKM):c.799A>G (p.Ile267Val)
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
NM_000289.6(PFKM):c.819A>G (p.Pro273=)
NM_000289.6(PFKM):c.843+16G>A
NM_000289.6(PFKM):c.843+20G>A
NM_000289.6(PFKM):c.844-11G>T
NM_000289.6(PFKM):c.844-6C>T rs769686642
NM_000289.6(PFKM):c.846G>A (p.Leu282=) rs1310081048
NM_000289.6(PFKM):c.85+11G>C
NM_000289.6(PFKM):c.85+13G>A
NM_000289.6(PFKM):c.85+16del
NM_000289.6(PFKM):c.85+22dup
NM_000289.6(PFKM):c.85+8G>T rs772038099
NM_000289.6(PFKM):c.85+9G>A rs777960882
NM_000289.6(PFKM):c.85+9del
NM_000289.6(PFKM):c.851_852del (p.Val284fs)
NM_000289.6(PFKM):c.852T>G (p.Val284=)
NM_000289.6(PFKM):c.856C>T (p.Arg286Cys)
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu)
NM_000289.6(PFKM):c.859C>T (p.Leu287=) rs925038213
NM_000289.6(PFKM):c.86-14G>T
NM_000289.6(PFKM):c.86-1G>C
NM_000289.6(PFKM):c.86-5T>C
NM_000289.6(PFKM):c.86-8C>T
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)
NM_000289.6(PFKM):c.867T>C (p.Tyr289=)
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
NM_000289.6(PFKM):c.870C>T (p.Asp290=) rs2135924488
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser)
NM_000289.6(PFKM):c.873C>A (p.Thr291=)
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
NM_000289.6(PFKM):c.874del (p.Arg292fs) rs1369841345
NM_000289.6(PFKM):c.877dup (p.Val293fs)
NM_000289.6(PFKM):c.879T>C (p.Val293=)
NM_000289.6(PFKM):c.883G>A (p.Val295Ile)
NM_000289.6(PFKM):c.886T>C (p.Leu296=)
NM_000289.6(PFKM):c.891G>T (p.Gly297=) rs2135924830
NM_000289.6(PFKM):c.903G>A (p.Arg301=) rs2135924903
NM_000289.6(PFKM):c.921C>T (p.Ala307=) rs2135925089
NM_000289.6(PFKM):c.926A>T (p.Asp309Val)
NM_000289.6(PFKM):c.936+10T>C rs2135925401
NM_000289.6(PFKM):c.936+10_936+28del
NM_000289.6(PFKM):c.936+12G>C
NM_000289.6(PFKM):c.936+20G>A
NM_000289.6(PFKM):c.936+2T>G
NM_000289.6(PFKM):c.936+9C>T
NM_000289.6(PFKM):c.937-13T>C
NM_000289.6(PFKM):c.937-15T>C
NM_000289.6(PFKM):c.937-18T>A
NM_000289.6(PFKM):c.937-19G>A
NM_000289.6(PFKM):c.937-4G>A rs1175020971
NM_000289.6(PFKM):c.937-6C>T rs1245827075
NM_000289.6(PFKM):c.937-8T>A
NM_000289.6(PFKM):c.937-8T>C rs2135956395
NM_000289.6(PFKM):c.93T>C (p.Asn31=) rs2135841860
NM_000289.6(PFKM):c.942C>T (p.Ser314=)
NM_000289.6(PFKM):c.943A>C (p.Arg315=)
NM_000289.6(PFKM):c.945G>A (p.Arg315=)
NM_000289.6(PFKM):c.954G>A (p.Val318=)
NM_000289.6(PFKM):c.957A>G (p.Glu319=)
NM_000289.6(PFKM):c.962T>C (p.Val321Ala)
NM_000289.6(PFKM):c.972T>A (p.Leu324=)
NM_000289.6(PFKM):c.987A>G (p.Pro329=) rs932393961
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu)
NM_000289.6(PFKM):c.996A>G (p.Pro332=)
NM_000289.6(PFKM):c.9T>C (p.His3=)
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>G rs8177994
NM_000298.6(PKLR):c.*351T>A rs886045349
NM_000298.6(PKLR):c.*356T>C rs1674470980
NM_000298.6(PKLR):c.*500C>T rs1674463281
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn) rs747097960
NM_000298.6(PKLR):c.1015del (p.Asp339fs) rs1193689718
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg) rs2148204121
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
NM_000298.6(PKLR):c.1117-4C>G rs1572054195
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) rs118204084
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter) rs2148198897
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser) rs1674554041
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) rs2148218886
NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)
NM_000298.6(PKLR):c.284-9T>C rs886045352
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000298.6(PKLR):c.376-11C>G rs1647538523
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) rs118204089
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.451G>A (p.Val151Met)
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) rs118204083
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn) rs1220156417
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp) rs199824528
NM_000298.6(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
NM_000298.6(PKLR):c.694+43C>T
NM_000298.6(PKLR):c.754G>A (p.Val252Met)
NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
NM_000298.6(PKLR):c.826del (p.Val276fs) rs754939638
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.945G>C (p.Glu315Asp) rs2148204818
NM_000298.6(PKLR):c.966-12C>T rs1188767860
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser) rs763964110
NM_000298.6(PKLR):c.972T>C (p.Asp324=) rs8177974
NM_000324.2(RHAG):c.[808G>A;838G>A]
NM_000324.3(RHAG):c.1007T>C (p.Leu336Ser) rs1554172605
NM_000324.3(RHAG):c.1086del (p.Ala363fs) rs1562011389
NM_000324.3(RHAG):c.1139G>T (p.Gly380Val) rs121918589
NM_000324.3(RHAG):c.154_157delinsGA (p.Pro52fs) rs387906519
NM_000324.3(RHAG):c.182T>G (p.Ile61Arg) rs863225469
NM_000324.3(RHAG):c.194T>C (p.Phe65Ser) rs863225468
NM_000324.3(RHAG):c.236G>A (p.Ser79Asn) rs121918586
NM_000324.3(RHAG):c.447T>G (p.Ile149Met) rs1554174425
NM_000324.3(RHAG):c.544G>A (p.Gly182Ser)
NM_000324.3(RHAG):c.836G>A (p.Gly279Glu) rs121918587
NM_000324.3(RHAG):c.920C>T (p.Ser307Phe)
NM_000324.3(RHAG):c.946-1G>A rs1562012697
NM_000324.3(RHAG):c.974A>G (p.His325Arg)
NM_000342.3(SLC4A1):c.(1094_1375)_(2057+11_2058-41)del
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG (p.Val822Alafs) rs387906566
NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala) rs121912750
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter) rs121912742
NM_000342.4(SLC4A1):c.*1032C>T rs557549888
NM_000342.4(SLC4A1):c.*1047T>C rs2047320056
NM_000342.4(SLC4A1):c.*1273del rs768606768
NM_000342.4(SLC4A1):c.*1316C>T rs886052991
NM_000342.4(SLC4A1):c.*1606_*1608dup rs57466226
NM_000342.4(SLC4A1):c.*1608del rs57466226
NM_000342.4(SLC4A1):c.*1608dup rs57466226
NM_000342.4(SLC4A1):c.*1609C>T rs1039193295
NM_000342.4(SLC4A1):c.*1693G>A rs2047314555
NM_000342.4(SLC4A1):c.*1791C>T rs941106311
NM_000342.4(SLC4A1):c.*265A>C rs2047325817
NM_000342.4(SLC4A1):c.*649G>A rs1054653641
NM_000342.4(SLC4A1):c.*701C>G rs13306779
NM_000342.4(SLC4A1):c.*745G>A rs1174269872
NM_000342.4(SLC4A1):c.*753C>T rs763961316
NM_000342.4(SLC4A1):c.*872G>C rs886052994
NM_000342.4(SLC4A1):c.*936G>T rs1051135906
NM_000342.4(SLC4A1):c.*984T>G rs878998198
NM_000342.4(SLC4A1):c.-59G>T rs2047459963
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His) rs2047407019
NM_000342.4(SLC4A1):c.1179C>T (p.Tyr393=) rs2047406551
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys) rs141751197
NM_000342.4(SLC4A1):c.1267_1268insG (p.Phe423fs)
NM_000342.4(SLC4A1):c.1319T>A (p.Leu440Gln) rs2144613306
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg) rs1555596165
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn) rs754973425
NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser) rs754973425
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter) rs1555596072
NM_000342.4(SLC4A1):c.1530C>G (p.Ser510Arg) rs1567831936
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His) rs745839527
NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs) rs2047398183
NM_000342.4(SLC4A1):c.1626+7G>A rs765327742
NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly) rs886052998
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) rs121912754
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=) rs2047371426
NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro) rs863225463
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
NM_000342.4(SLC4A1):c.2131G>A (p.Gly711Ser)
NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)
NM_000342.4(SLC4A1):c.2165C>T (p.Pro722Leu)
NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro) rs863225461
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) rs863225462
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2269A>T (p.Lys757Ter) rs2144601154
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val) rs121912741
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys) rs148317876
NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.2464del (p.Val822fs)
NM_000342.4(SLC4A1):c.2545GTG[1] (p.Val850del) rs121912752
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2586C>A (p.Val862=) rs1485187596
NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys) rs761763084
NM_000342.4(SLC4A1):c.2655+2_2655+3del
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro) rs189300762
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter) rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr) rs2047328405
NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg) rs1380205574
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.319C>T (p.Leu107Phe) rs2047435499
NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)
NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile) rs2047435077
NM_000342.4(SLC4A1):c.370C>T (p.Gln124Ter)
NM_000342.4(SLC4A1):c.486-2A>G rs1555596757
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly) rs779054292
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290
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.1000C>T (p.Leu334=)
NM_000355.4(TCN2):c.1003C>T (p.Gln335Ter) rs771755125
NM_000355.4(TCN2):c.1017C>T (p.Leu339=) rs35997415
NM_000355.4(TCN2):c.1020G>A (p.Leu340=)
NM_000355.4(TCN2):c.1021C>A (p.Pro341Thr) rs746722274
NM_000355.4(TCN2):c.1021C>G (p.Pro341Ala) rs746722274
NM_000355.4(TCN2):c.1025C>T (p.Pro342Leu)
NM_000355.4(TCN2):c.1026G>A (p.Pro342=)
NM_000355.4(TCN2):c.1026G>T (p.Pro342=)
NM_000355.4(TCN2):c.102G>C (p.Leu34Phe)
NM_000355.4(TCN2):c.1033C>T (p.Gln345Ter)
NM_000355.4(TCN2):c.1037C>T (p.Ser346Phe)
NM_000355.4(TCN2):c.1038C>T (p.Ser346=)
NM_000355.4(TCN2):c.1041C>A (p.Ile347=) rs750640912
NM_000355.4(TCN2):c.1043C>G (p.Ser348Cys) rs9621049
NM_000355.4(TCN2):c.1045G>C (p.Val349Leu) rs2087628967
NM_000355.4(TCN2):c.1048C>T (p.Leu350=)
NM_000355.4(TCN2):c.1052C>T (p.Ala351Val) rs951348375
NM_000355.4(TCN2):c.1055G>A (p.Gly352Glu) rs778691896
NM_000355.4(TCN2):c.105C>T (p.Gly35=)
NM_000355.4(TCN2):c.1061C>G (p.Thr354Ser)
NM_000355.4(TCN2):c.1065G>A (p.Val355=)
NM_000355.4(TCN2):c.1075C>T (p.Leu359=)
NM_000355.4(TCN2):c.1084G>T (p.Ala362Ser) rs1237571997
NM_000355.4(TCN2):c.1087C>T (p.His363Tyr) rs2087629933
NM_000355.4(TCN2):c.1088A>G (p.His363Arg)
NM_000355.4(TCN2):c.108G>A (p.Gln36=)
NM_000355.4(TCN2):c.1090G>T (p.Glu364Ter)
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.1106+10C>T
NM_000355.4(TCN2):c.1106+11C>G
NM_000355.4(TCN2):c.1106+11C>T rs2145548417
NM_000355.4(TCN2):c.1106+13_1106+19del
NM_000355.4(TCN2):c.1106+14C>T
NM_000355.4(TCN2):c.1106+17C>T
NM_000355.4(TCN2):c.1106C>G (p.Thr369Arg)
NM_000355.4(TCN2):c.1107-11C>G
NM_000355.4(TCN2):c.1107-11C>T rs375069878
NM_000355.4(TCN2):c.1107-15C>T
NM_000355.4(TCN2):c.1107-17G>T
NM_000355.4(TCN2):c.1107-18T>C
NM_000355.4(TCN2):c.1107-6C>T
NM_000355.4(TCN2):c.1107-7T>G
NM_000355.4(TCN2):c.1107-9C>T
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys) rs1406364381
NM_000355.4(TCN2):c.1117C>T (p.Gln373Ter) rs1279321570
NM_000355.4(TCN2):c.1121CCT[1] (p.Ser375del) rs2087720255
NM_000355.4(TCN2):c.1122C>T (p.Ala374=)
NM_000355.4(TCN2):c.1127dup (p.Leu376fs)
NM_000355.4(TCN2):c.112C>G (p.Leu38Val)
NM_000355.4(TCN2):c.1131A>G (p.Ser377=)
NM_000355.4(TCN2):c.1134C>T (p.Gly378=)
NM_000355.4(TCN2):c.1138T>C (p.Tyr380His) rs2087720717
NM_000355.4(TCN2):c.1139A>G (p.Tyr380Cys) rs746024609
NM_000355.4(TCN2):c.1139dup (p.Tyr380Ter) rs2087720794
NM_000355.4(TCN2):c.1149C>T (p.Ser383=)
NM_000355.4(TCN2):c.114C>G (p.Leu38=)
NM_000355.4(TCN2):c.1158G>A (p.Gly386=)
NM_000355.4(TCN2):c.1164G>A (p.Ala388=) rs147747593
NM_000355.4(TCN2):c.1164G>C (p.Ala388=)
NM_000355.4(TCN2):c.116T>C (p.Leu39Ser)
NM_000355.4(TCN2):c.1179G>A (p.Glu393=)
NM_000355.4(TCN2):c.117dup (p.Pro40fs)
NM_000355.4(TCN2):c.1191T>C (p.Leu397=)
NM_000355.4(TCN2):c.1195C>A (p.Arg399=)
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly) rs769817524
NM_000355.4(TCN2):c.1196G>C (p.Arg399Pro) rs4820889
NM_000355.4(TCN2):c.1206C>T (p.Asn402=) rs1569045801
NM_000355.4(TCN2):c.120T>C (p.Pro40=)
NM_000355.4(TCN2):c.1212A>G (p.Pro404=)
NM_000355.4(TCN2):c.1222+11G>A
NM_000355.4(TCN2):c.1222+11G>T
NM_000355.4(TCN2):c.1222+19C>T rs2087722409
NM_000355.4(TCN2):c.1222+3G>A
NM_000355.4(TCN2):c.1223-10_1223-9del
NM_000355.4(TCN2):c.1223-15A>C
NM_000355.4(TCN2):c.1223-18C>G
NM_000355.4(TCN2):c.1223-18C>T
NM_000355.4(TCN2):c.1223-19G>C
NM_000355.4(TCN2):c.1223-20T>C
NM_000355.4(TCN2):c.1223-22_1223-20del
NM_000355.4(TCN2):c.1223-5T>G
NM_000355.4(TCN2):c.1223-6C>A
NM_000355.4(TCN2):c.1223-6C>T
NM_000355.4(TCN2):c.1227T>C (p.Ile409=)
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys) rs745363222
NM_000355.4(TCN2):c.1251A>C (p.Gly417=)
NM_000355.4(TCN2):c.1263G>A (p.Glu421=) rs1385370129
NM_000355.4(TCN2):c.1266G>A (p.Leu422=)
NM_000355.4(TCN2):c.1282T>G (p.Ter428Glu)
NM_000355.4(TCN2):c.1284G>A (p.Ter428=) rs2145563752
NM_000355.4(TCN2):c.134_155del (p.Leu45fs)
NM_000355.4(TCN2):c.150G>A (p.Leu50=) rs921002639
NM_000355.4(TCN2):c.153C>T (p.Asn51=)
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser) rs1555894597
NM_000355.4(TCN2):c.156C>T (p.Pro52=)
NM_000355.4(TCN2):c.159C>T (p.Ser53=)
NM_000355.4(TCN2):c.168G>A (p.Val56=) rs2145536712
NM_000355.4(TCN2):c.170G>T (p.Gly57Val)
NM_000355.4(TCN2):c.171C>A (p.Gly57=)
NM_000355.4(TCN2):c.171C>T (p.Gly57=)
NM_000355.4(TCN2):c.172del (p.Leu58fs) rs2145536721
NM_000355.4(TCN2):c.174A>T (p.Leu58=) rs764601482
NM_000355.4(TCN2):c.177C>G (p.Arg59=)
NM_000355.4(TCN2):c.177C>T (p.Arg59=)
NM_000355.4(TCN2):c.17C>A (p.Ala6Asp) rs2145528950
NM_000355.4(TCN2):c.180C>T (p.Leu60=)
NM_000355.4(TCN2):c.18C>T (p.Ala6=)
NM_000355.4(TCN2):c.197G>C (p.Gly66Ala) rs2087531325
NM_000355.4(TCN2):c.19T>C (p.Phe7Leu)
NM_000355.4(TCN2):c.201C>G (p.Thr67=)
NM_000355.4(TCN2):c.216C>T (p.Tyr72=)
NM_000355.4(TCN2):c.21C>T (p.Phe7=)
NM_000355.4(TCN2):c.224G>C (p.Ser75Thr)
NM_000355.4(TCN2):c.230A>G (p.Lys77Arg) rs75680863
NM_000355.4(TCN2):c.236del (p.Gly79fs) rs2087532435
NM_000355.4(TCN2):c.242A>C (p.Gln81Pro) rs2087532634
NM_000355.4(TCN2):c.243G>T (p.Gln81His) rs2087532682
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs) rs1602043738
NM_000355.4(TCN2):c.24C>G (p.Leu8=)
NM_000355.4(TCN2):c.252C>G (p.Leu84=)
NM_000355.4(TCN2):c.257+10C>T
NM_000355.4(TCN2):c.257+12C>T
NM_000355.4(TCN2):c.257+12CT[2]
NM_000355.4(TCN2):c.257+15dup
NM_000355.4(TCN2):c.257+16C>T
NM_000355.4(TCN2):c.257+17T>C
NM_000355.4(TCN2):c.257+7C>G
NM_000355.4(TCN2):c.257+7C>T
NM_000355.4(TCN2):c.258-11C>A rs746958412
NM_000355.4(TCN2):c.258-11C>G
NM_000355.4(TCN2):c.258-11C>T
NM_000355.4(TCN2):c.258-14T>G
NM_000355.4(TCN2):c.258-15C>T
NM_000355.4(TCN2):c.258-18dup
NM_000355.4(TCN2):c.258-1G>A
NM_000355.4(TCN2):c.258-8_258-6dup
NM_000355.4(TCN2):c.258-9T>G rs2145540026
NM_000355.4(TCN2):c.262G>A (p.Ala88Thr)
NM_000355.4(TCN2):c.267C>T (p.Phe89=)
NM_000355.4(TCN2):c.27C>T (p.Phe9=)
NM_000355.4(TCN2):c.280G>C (p.Gly94Arg) rs11557600
NM_000355.4(TCN2):c.280G>T (p.Gly94Cys) rs11557600
NM_000355.4(TCN2):c.285C>T (p.Asp95=)
NM_000355.4(TCN2):c.288C>T (p.Cys96=)
NM_000355.4(TCN2):c.297G>A (p.Lys99=)
NM_000355.4(TCN2):c.308G>A (p.Gly103Asp)
NM_000355.4(TCN2):c.30T>A (p.Leu10=) rs2145528985
NM_000355.4(TCN2):c.311A>G (p.Gln104Arg)
NM_000355.4(TCN2):c.312G>A (p.Gln104=)
NM_000355.4(TCN2):c.318C>T (p.Ala106=)
NM_000355.4(TCN2):c.319C>T (p.Leu107Phe)
NM_000355.4(TCN2):c.31C>G (p.Leu11Val) rs2145528995
NM_000355.4(TCN2):c.323A>G (p.Tyr108Cys)
NM_000355.4(TCN2):c.324C>A (p.Tyr108Ter)
NM_000355.4(TCN2):c.324C>G (p.Tyr108Ter)
NM_000355.4(TCN2):c.324C>T (p.Tyr108=)
NM_000355.4(TCN2):c.325C>T (p.Leu109=)
NM_000355.4(TCN2):c.327G>A (p.Leu109=)
NM_000355.4(TCN2):c.327G>T (p.Leu109=)
NM_000355.4(TCN2):c.32T>C (p.Leu11Pro)
NM_000355.4(TCN2):c.330C>A (p.Leu110=)
NM_000355.4(TCN2):c.334C>G (p.Leu112Val) rs777103002
NM_000355.4(TCN2):c.33G>A (p.Leu11=)
NM_000355.4(TCN2):c.340G>A (p.Ala114Thr)
NM_000355.4(TCN2):c.342C>T (p.Ala114=)
NM_000355.4(TCN2):c.343A>G (p.Asn115Asp)
NM_000355.4(TCN2):c.344del (p.Asn115fs)
NM_000355.4(TCN2):c.345C>T (p.Asn115=)
NM_000355.4(TCN2):c.350_351insAC (p.Phe118fs)
NM_000355.4(TCN2):c.353T>G (p.Phe118Cys) rs199728304
NM_000355.4(TCN2):c.354T>C (p.Phe118=)
NM_000355.4(TCN2):c.358_359del (p.Arg120fs)
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp) rs1602045889
NM_000355.4(TCN2):c.364C>T (p.His122Tyr) rs373115973
NM_000355.4(TCN2):c.372G>C (p.Gly124=)
NM_000355.4(TCN2):c.376A>G (p.Arg126Gly) rs552020145
NM_000355.4(TCN2):c.378G>C (p.Arg126Ser)
NM_000355.4(TCN2):c.380del (p.Leu127fs)
NM_000355.4(TCN2):c.381G>A (p.Leu127=) rs2145540343
NM_000355.4(TCN2):c.38del (p.Val13fs)
NM_000355.4(TCN2):c.402C>T (p.Phe134=) rs781606712
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
NM_000355.4(TCN2):c.416A>G (p.Lys139Arg)
NM_000355.4(TCN2):c.420_421del (p.Arg140fs)
NM_000355.4(TCN2):c.423C>T (p.Ala141=)
NM_000355.4(TCN2):c.426T>C (p.Ile142=)
NM_000355.4(TCN2):c.426del (p.Ile142fs) rs2087564577
NM_000355.4(TCN2):c.427+10C>T
NM_000355.4(TCN2):c.427+12C>G
NM_000355.4(TCN2):c.427+17C>A
NM_000355.4(TCN2):c.427+18G>C
NM_000355.4(TCN2):c.427+18G>T rs373712632
NM_000355.4(TCN2):c.427+20T>C
NM_000355.4(TCN2):c.427+2T>G rs606231119
NM_000355.4(TCN2):c.427+3G>A
NM_000355.4(TCN2):c.427+7A>G
NM_000355.4(TCN2):c.427+8G>A
NM_000355.4(TCN2):c.427+8G>T
NM_000355.4(TCN2):c.427+9A>G
NM_000355.4(TCN2):c.428-10T>C rs2145542622
NM_000355.4(TCN2):c.428-10dup rs747673857
NM_000355.4(TCN2):c.428-11T>G
NM_000355.4(TCN2):c.428-14T>G
NM_000355.4(TCN2):c.428-17_428-16del rs754484246
NM_000355.4(TCN2):c.428-17_428-16dup
NM_000355.4(TCN2):c.428-18dup
NM_000355.4(TCN2):c.428-19_428-18del
NM_000355.4(TCN2):c.428-2A>G rs2087581122
NM_000355.4(TCN2):c.428-4_428-3del
NM_000355.4(TCN2):c.428-5C>G
NM_000355.4(TCN2):c.428-5C>T
NM_000355.4(TCN2):c.428-7C>G
NM_000355.4(TCN2):c.428-9C>A
NM_000355.4(TCN2):c.428-9C>T
NM_000355.4(TCN2):c.429G>T (p.Gly143=)
NM_000355.4(TCN2):c.433G>A (p.Asp145Asn)
NM_000355.4(TCN2):c.441G>A (p.Lys147=)
NM_000355.4(TCN2):c.442G>T (p.Gly148Cys)
NM_000355.4(TCN2):c.445C>T (p.His149Tyr)
NM_000355.4(TCN2):c.447C>A (p.His149Gln) rs770630089
NM_000355.4(TCN2):c.448C>G (p.Pro150Ala) rs776493564
NM_000355.4(TCN2):c.44G>A (p.Gly15Glu)
NM_000355.4(TCN2):c.462C>T (p.Tyr154=)
NM_000355.4(TCN2):c.463dup (p.Tyr155fs)
NM_000355.4(TCN2):c.466C>T (p.Gln156Ter)
NM_000355.4(TCN2):c.46_47delinsTT (p.Ala16Phe) rs2145529052
NM_000355.4(TCN2):c.474C>G (p.Gly158=)
NM_000355.4(TCN2):c.475C>T (p.Leu159=)
NM_000355.4(TCN2):c.484C>T (p.Leu162=)
NM_000355.4(TCN2):c.486G>A (p.Leu162=) rs199546693
NM_000355.4(TCN2):c.489C>T (p.Ala163=)
NM_000355.4(TCN2):c.494_495del (p.Cys165fs)
NM_000355.4(TCN2):c.504G>A (p.Gln168=)
NM_000355.4(TCN2):c.507G>A (p.Lys169=)
NM_000355.4(TCN2):c.508C>T (p.Arg170Trp)
NM_000355.4(TCN2):c.511G>A (p.Val171Ile)
NM_000355.4(TCN2):c.525G>C (p.Val175=)
NM_000355.4(TCN2):c.538C>T (p.Leu180=)
NM_000355.4(TCN2):c.540G>A (p.Leu180=)
NM_000355.4(TCN2):c.54T>C (p.Thr18=)
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.565G>A (p.Gly189Ser)
NM_000355.4(TCN2):c.565G>T (p.Gly189Cys)
NM_000355.4(TCN2):c.569A>G (p.His190Arg)
NM_000355.4(TCN2):c.570C>T (p.His190=)
NM_000355.4(TCN2):c.57G>A (p.Glu19=)
NM_000355.4(TCN2):c.580+10T>C
NM_000355.4(TCN2):c.580+17G>A rs184174370
NM_000355.4(TCN2):c.580+17G>T
NM_000355.4(TCN2):c.580+1G>C
NM_000355.4(TCN2):c.580+20C>T
NM_000355.4(TCN2):c.580+7A>G
NM_000355.4(TCN2):c.581-15G>A
NM_000355.4(TCN2):c.581-176A>C
NM_000355.4(TCN2):c.581-176A>G
NM_000355.4(TCN2):c.581-176A>T rs372866837
NM_000355.4(TCN2):c.581-20G>A
NM_000355.4(TCN2):c.581-4C>T rs867249218
NM_000355.4(TCN2):c.581-7C>A rs550090290
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.581-8del rs2145544168
NM_000355.4(TCN2):c.581-9dup rs2145544145
NM_000355.4(TCN2):c.582C>G (p.Asp194Glu) rs762023960
NM_000355.4(TCN2):c.582C>T (p.Asp194=)
NM_000355.4(TCN2):c.583A>T (p.Thr195Ser) rs2145544190
NM_000355.4(TCN2):c.585A>G (p.Thr195=)
NM_000355.4(TCN2):c.600C>G (p.Gly200=)
NM_000355.4(TCN2):c.609C>T (p.Phe203=) rs1336980912
NM_000355.4(TCN2):c.616C>T (p.Leu206=)
NM_000355.4(TCN2):c.622C>T (p.Arg208Cys)
NM_000355.4(TCN2):c.623_624del (p.Arg208fs)
NM_000355.4(TCN2):c.625T>C (p.Ser209Pro)
NM_000355.4(TCN2):c.626C>G (p.Ser209Ter) rs796064505
NM_000355.4(TCN2):c.627A>G (p.Ser209=)
NM_000355.4(TCN2):c.631T>G (p.Phe211Val)
NM_000355.4(TCN2):c.632dup (p.Asn212fs)
NM_000355.4(TCN2):c.638C>T (p.Pro213Leu) rs774581238
NM_000355.4(TCN2):c.64+12G>A
NM_000355.4(TCN2):c.64+14C>T
NM_000355.4(TCN2):c.64+15T>C
NM_000355.4(TCN2):c.64+16C>G rs2145529135
NM_000355.4(TCN2):c.64+18A>G
NM_000355.4(TCN2):c.64+19T>A
NM_000355.4(TCN2):c.64+20C>T
NM_000355.4(TCN2):c.64+4A>T
NM_000355.4(TCN2):c.64+9C>T
NM_000355.4(TCN2):c.641G>T (p.Gly214Val)
NM_000355.4(TCN2):c.643C>A (p.Arg215=) rs35838082
NM_000355.4(TCN2):c.648A>G (p.Arg216=)
NM_000355.4(TCN2):c.649_650del (p.Gln217fs)
NM_000355.4(TCN2):c.65-10C>A
NM_000355.4(TCN2):c.65-10C>T
NM_000355.4(TCN2):c.65-1_65delinsTT rs2145536487
NM_000355.4(TCN2):c.65-6del rs748765421
NM_000355.4(TCN2):c.65-7T>C
NM_000355.4(TCN2):c.65-9T>C
NM_000355.4(TCN2):c.655A>G (p.Ile219Val) rs2087597138
NM_000355.4(TCN2):c.660C>T (p.Thr220=)
NM_000355.4(TCN2):c.662T>C (p.Met221Thr)
NM_000355.4(TCN2):c.666C>T (p.Ala222=)
NM_000355.4(TCN2):c.675A>G (p.Thr225=)
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
NM_000355.4(TCN2):c.680G>A (p.Arg227Gln) rs17849434
NM_000355.4(TCN2):c.690C>A (p.Ile230=) rs779288271
NM_000355.4(TCN2):c.691T>C (p.Leu231=)
NM_000355.4(TCN2):c.700del (p.Gln234fs) rs2087597945
NM_000355.4(TCN2):c.705C>T (p.Thr235=) rs1016983766
NM_000355.4(TCN2):c.706C>T (p.Pro236Ser) rs1382507371
NM_000355.4(TCN2):c.708C>G (p.Pro236=)
NM_000355.4(TCN2):c.70C>A (p.Pro24Thr) rs755866662
NM_000355.4(TCN2):c.70C>G (p.Pro24Ala) rs755866662
NM_000355.4(TCN2):c.714C>T (p.Gly238=)
NM_000355.4(TCN2):c.716A>G (p.His239Arg) rs1338313632
NM_000355.4(TCN2):c.717C>T (p.His239=)
NM_000355.4(TCN2):c.720T>C (p.Phe240=) rs368425204
NM_000355.4(TCN2):c.720T>G (p.Phe240Leu) rs368425204
NM_000355.4(TCN2):c.729C>T (p.Val243=)
NM_000355.4(TCN2):c.738C>G (p.Thr246=)
NM_000355.4(TCN2):c.741A>G (p.Pro247=)
NM_000355.4(TCN2):c.742T>C (p.Leu248=)
NM_000355.4(TCN2):c.753+14C>T
NM_000355.4(TCN2):c.753+15C>T
NM_000355.4(TCN2):c.753+18G>A
NM_000355.4(TCN2):c.753+20G>A
NM_000355.4(TCN2):c.753+7A>G rs758687066
NM_000355.4(TCN2):c.753+9G>A
NM_000355.4(TCN2):c.754-11T>A
NM_000355.4(TCN2):c.754-12C>T
NM_000355.4(TCN2):c.754-13A>G rs754588956
NM_000355.4(TCN2):c.754-13_754-10del
NM_000355.4(TCN2):c.754-14C>G
NM_000355.4(TCN2):c.754-17C>T
NM_000355.4(TCN2):c.754-18T>C
NM_000355.4(TCN2):c.754-4C>A rs72550761
NM_000355.4(TCN2):c.754-8A>G
NM_000355.4(TCN2):c.754-8_754-7del
NM_000355.4(TCN2):c.754-9dup
NM_000355.4(TCN2):c.756C>T (p.Phe252=)
NM_000355.4(TCN2):c.759C>T (p.Leu253=)
NM_000355.4(TCN2):c.766dup (p.Ser256fs) rs1555895066
NM_000355.4(TCN2):c.769C>G (p.Pro257Ala)
NM_000355.4(TCN2):c.772A>G (p.Met258Val) rs781666065
NM_000355.4(TCN2):c.775_776delinsTC (p.Arg259Ser)
NM_000355.4(TCN2):c.776G>A (p.Arg259His) rs1801198
NM_000355.4(TCN2):c.781G>A (p.Ala261Thr)
NM_000355.4(TCN2):c.802C>T (p.Leu268Phe) rs2145544995
NM_000355.4(TCN2):c.808G>A (p.Ala270Thr) rs1329472979
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.81C>T (p.Asp27=)
NM_000355.4(TCN2):c.822G>A (p.Leu274=)
NM_000355.4(TCN2):c.828C>T (p.Ala276=)
NM_000355.4(TCN2):c.837G>A (p.Gln279=)
NM_000355.4(TCN2):c.839A>T (p.Asp280Val)
NM_000355.4(TCN2):c.840T>A (p.Asp280Glu)
NM_000355.4(TCN2):c.843A>T (p.Gly281=) rs979235252
NM_000355.4(TCN2):c.845C>T (p.Ala282Val)
NM_000355.4(TCN2):c.855T>C (p.Asn285=)
NM_000355.4(TCN2):c.858T>G (p.Ala286=) rs988793927
NM_000355.4(TCN2):c.861C>G (p.Leu287=)
NM_000355.4(TCN2):c.861C>T (p.Leu287=)
NM_000355.4(TCN2):c.868T>G (p.Ser290Ala) rs1423032257
NM_000355.4(TCN2):c.86_87del (p.His29fs) rs2087528394
NM_000355.4(TCN2):c.872A>T (p.Gln291Leu) rs2087603700
NM_000355.4(TCN2):c.873G>A (p.Gln291=)
NM_000355.4(TCN2):c.879G>A (p.Leu293=) rs777393779
NM_000355.4(TCN2):c.879G>T (p.Leu293=) rs777393779
NM_000355.4(TCN2):c.882C>A (p.Pro294=)
NM_000355.4(TCN2):c.882del (p.Val295fs) rs2145545140
NM_000355.4(TCN2):c.885T>C (p.Val295=)
NM_000355.4(TCN2):c.886C>G (p.Leu296Val)
NM_000355.4(TCN2):c.888G>A (p.Leu296=)
NM_000355.4(TCN2):c.88C>T (p.Leu30=)
NM_000355.4(TCN2):c.891C>T (p.Asn297=)
NM_000355.4(TCN2):c.892C>T (p.His298Tyr)
NM_000355.4(TCN2):c.895A>G (p.Lys299Glu) rs2087604329
NM_000355.4(TCN2):c.900C>T (p.Thr300=)
NM_000355.4(TCN2):c.910C>T (p.Leu304=)
NM_000355.4(TCN2):c.912G>C (p.Leu304=)
NM_000355.4(TCN2):c.916T>C (p.Phe306Leu)
NM_000355.4(TCN2):c.91G>A (p.Val31Ile) rs2087528743
NM_000355.4(TCN2):c.926G>A (p.Cys309Tyr) rs1396153308
NM_000355.4(TCN2):c.926G>C (p.Cys309Ser) rs1396153308
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000355.4(TCN2):c.936A>G (p.Pro312=)
NM_000355.4(TCN2):c.937C>G (p.Arg313Gly) rs747257199
NM_000355.4(TCN2):c.937C>T (p.Arg313Ter)
NM_000355.4(TCN2):c.940+10C>A
NM_000355.4(TCN2):c.940+303_1106+746delinsCTGG
NM_000355.4(TCN2):c.940+3A>G rs780965553
NM_000355.4(TCN2):c.941-13C>A
NM_000355.4(TCN2):c.941-13C>G
NM_000355.4(TCN2):c.941-14T>C
NM_000355.4(TCN2):c.941-17C>G
NM_000355.4(TCN2):c.941-17C>T
NM_000355.4(TCN2):c.941-18C>T
NM_000355.4(TCN2):c.941-2A>G
NM_000355.4(TCN2):c.941-4A>G
NM_000355.4(TCN2):c.941-5C>T
NM_000355.4(TCN2):c.941-8T>C rs2145547976
NM_000355.4(TCN2):c.941-9_941-5del rs1602050074
NM_000355.4(TCN2):c.953C>T (p.Pro318Leu)
NM_000355.4(TCN2):c.962dup (p.Thr322fs)
NM_000355.4(TCN2):c.964dup (p.Thr322fs)
NM_000355.4(TCN2):c.977C>T (p.Thr326Ile)
NM_000355.4(TCN2):c.981A>G (p.Gln327=)
NM_000355.4(TCN2):c.987C>A (p.Ile329=) rs755892011
NM_000355.4(TCN2):c.987C>G (p.Ile329Met) rs755892011
NM_000355.4(TCN2):c.988A>G (p.Ile330Val) rs1169605273
NM_000355.4(TCN2):c.997dup (p.Thr333fs) rs2145548128
NM_000355.4(TCN2):c.9C>G (p.His3Gln) rs1489889957
NM_000365.6(TPI1):c.*134C>A rs782308993
NM_000365.6(TPI1):c.*173G>A rs1191018741
NM_000365.6(TPI1):c.*520T>C rs1944574698
NM_000365.6(TPI1):c.*541dup rs201871949
NM_000365.6(TPI1):c.*542_*544del rs782559646
NM_000365.6(TPI1):c.-29C>G rs181882616
NM_000365.6(TPI1):c.-29C>T rs181882616
NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)
NM_000365.6(TPI1):c.182C>T (p.Ala61Val)
NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)
NM_000365.6(TPI1):c.239+8C>A rs782359362
NM_000365.6(TPI1):c.32dup (p.Asn12fs) rs587777441
NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr) rs199881593
NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter) rs121964850
NM_000365.6(TPI1):c.453C>G (p.Ile151Met)
NM_000365.6(TPI1):c.457+7C>G
NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)
NM_000365.6(TPI1):c.511A>G (p.Ile171Val) rs121964849
NM_000365.6(TPI1):c.544-1G>C rs2138094606
NM_000365.6(TPI1):c.558C>T (p.His186=) rs369241009
NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)
NM_000365.6(TPI1):c.694G>A (p.Val232Met) rs1555132614
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu) rs121964847
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser) rs587777440
NM_000373.3(UMPS):c.[286A>G;285G>C]
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.1123G>A (p.Gly375Ser) rs1344899647
NM_000373.4(UMPS):c.1158+10G>C rs371807738
NM_000373.4(UMPS):c.1213C>T (p.Arg405Ter)
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000373.4(UMPS):c.326T>G (p.Val109Gly) rs121917892
NM_000373.4(UMPS):c.441T>C (p.Thr147=) rs886057871
NM_000373.4(UMPS):c.443A>T (p.Asp148Val)
NM_000373.4(UMPS):c.799T>C (p.Leu267=) rs2063529927
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000375.2(UROS):c.148_244del rs2133941461
NM_000375.3(UROS):c.-195C>A rs1227442865
NM_000375.3(UROS):c.-224C>T rs1854170338
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.139T>C (p.Ser47Pro) rs397515527
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.3(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.3(UROS):c.311C>T (p.Ala104Val) rs397515528
NM_000375.3(UROS):c.395-1dup rs796051859
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_000375.3(UROS):c.562G>A (p.Gly188Arg) rs121908017
NM_000375.3(UROS):c.562G>T (p.Gly188Trp) rs121908017
NM_000375.3(UROS):c.56A>G (p.Tyr19Cys) rs1590007244
NM_000375.3(UROS):c.660+4del
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
NM_000384.2(APOB):c.11905del rs387906569
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.2786del (p.Pro929fs) rs1553385404
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer) rs1553384441
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter) rs1553383898
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile) rs768221258
NM_000384.3(APOB):c.819-2A>G rs1572800245
NM_000384.3(APOB):c.905-1_905dup rs606231236
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000398.7(CYB5R3):c.103A>C (p.Thr35Pro) rs1601943088
NM_000398.7(CYB5R3):c.130C>T (p.Pro44Ser)
NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln)
NM_000398.7(CYB5R3):c.16A>G (p.Ser6Gly)
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
NM_000398.7(CYB5R3):c.194C>G (p.Pro65Arg)
NM_000398.7(CYB5R3):c.1A>G (p.Met1Val)
NM_000398.7(CYB5R3):c.226+2T>C rs1601938489
NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter) rs121965014
NM_000398.7(CYB5R3):c.245C>T (p.Ser82Leu)
NM_000398.7(CYB5R3):c.274C>T (p.Arg92Trp)
NM_000398.7(CYB5R3):c.298G>A (p.Asp100Asn)
NM_000398.7(CYB5R3):c.310G>T (p.Gly104Cys) rs1299251737
NM_000398.7(CYB5R3):c.367G>A (p.Ala123Thr)
NM_000398.7(CYB5R3):c.382T>C (p.Ser128Pro) rs121965006
NM_000398.7(CYB5R3):c.394G>C (p.Glu132Gln)
NM_000398.7(CYB5R3):c.446T>C (p.Leu149Pro) rs121965008
NM_000398.7(CYB5R3):c.463+8G>C rs200872504
NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr)
NM_000398.7(CYB5R3):c.503T>C (p.Ile168Thr)
NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg) rs121965011
NM_000398.7(CYB5R3):c.613C>T (p.His205Tyr)
NM_000398.7(CYB5R3):c.63T>A (p.Ser21Arg)
NM_000398.7(CYB5R3):c.655C>T (p.Arg219Ter) rs121965010
NM_000398.7(CYB5R3):c.694C>T (p.Arg232Cys)
NM_000398.7(CYB5R3):c.702G>T (p.Lys234Asn)
NM_000398.7(CYB5R3):c.734-1G>T rs794728011
NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del) rs121965017
NM_000398.7(CYB5R3):c.796G>C (p.Glu266Gln)
NM_000398.7(CYB5R3):c.817_819del (p.Met273del) rs794728012
NM_000398.7(CYB5R3):c.830dup (p.Pro278fs) rs750819571
NM_000398.7(CYB5R3):c.895_897del (p.Phe299del) rs121965012
NM_000398.7(CYB5R3):c.906A>G (p.Ter302Trp)
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) rs137852347
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser) rs137852333
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) rs137852345
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) rs387906468
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg) rs137852322
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) rs137852334
NM_000402.4(G6PD):c.1250G>A (p.Arg417His) rs137852321
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) rs137852335
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys) rs137852323
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) rs137852336
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg) rs137852344
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) rs137852348
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn) rs137852315
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) rs137852332
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu) rs137852319
NM_000402.4(G6PD):c.7C>T (p.Arg3Trp)
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) rs137852346
NM_000476.3(AK1):c.139del (p.Val47fs) rs387906583
NM_000476.3(AK1):c.148_149delinsAA (p.Gly50Asn)
NM_000476.3(AK1):c.153G>A (p.Ser51=)
NM_000476.3(AK1):c.158G>A (p.Arg53Lys)
NM_000476.3(AK1):c.229C>T (p.Arg77Trp)
NM_000476.3(AK1):c.238A>G (p.Met80Val)
NM_000476.3(AK1):c.254A>G (p.Asn85Ser)
NM_000476.3(AK1):c.301C>A (p.Gln101Lys) rs2131401746
NM_000476.3(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000476.3(AK1):c.382C>T (p.Arg128Trp) rs104894101
NM_000476.3(AK1):c.409G>A (p.Gly137Arg)
NM_000476.3(AK1):c.418GAC[1] (p.Asp141del) rs387906582
NM_000476.3(AK1):c.491A>G (p.Tyr164Cys) rs137853203
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>A (p.Gly177Asp)
NM_000476.3(AK1):c.530G>T (p.Gly177Val) rs201453879
NM_000476.3(AK1):c.535G>C (p.Val179Leu)
NM_000476.3(AK1):c.55T>G (p.Ser19Ala)
NM_000476.3(AK1):c.78G>C (p.Glu26Asp)
NM_000476.3(AK1):c.8-321C>T
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_000517.4(HBA2):c.-59C>T rs1277780626
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.199C>A (p.Leu67Met) rs1280121011
NM_000517.6(HBA2):c.200T>A (p.Leu67Gln) rs41323248
NM_000517.6(HBA2):c.200T>G (p.Leu67Arg) rs41323248
NM_000517.6(HBA2):c.203C>T (p.Thr68Ile) rs2142017990
NM_000517.6(HBA2):c.210_211insT (p.Val71fs) rs2142018005
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.404C>T (p.Thr135Ile) rs281864488
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.-121C>T rs281864518
NM_000518.4(HBB):c.-136C>A
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.-137C>T rs33941377
NM_000518.4(HBB):c.-138C>G rs33944208
NM_000518.4(HBB):c.-79A>C rs34598529
NM_000518.4(HBB):c.-80T>A rs33980857
NM_000518.4(HBB):c.-80del rs397509430
NM_000518.4(HBB):c.-82C>A rs34500389
NM_000518.4(HBB):c.-91A>C rs1589893790
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.4(HBB):c.127T>G (p.Phe43Val) rs33924146
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.203T>A (p.Val68Glu) rs33918343
NM_000518.4(HBB):c.232C>T (p.His78Tyr) rs33991294
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) rs33917628
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.277C>T (p.His93Tyr) rs33924775
NM_000518.4(HBB):c.316-149_*342delinsAAGTAGA rs1847513733
NM_000518.4(HBB):c.320T>A (p.Leu107Gln) rs33941844
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.383A>G (p.Gln128Arg) rs33910569
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) rs35939430
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) rs33916412
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.4(HBB):c.[316-12T>C;316-7C>A]
NM_000518.5(HBB):c.*108A>G rs1847518799
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*110_*114del rs35949130
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*115_*116del rs281864532
NM_000518.5(HBB):c.*132+34C>A rs1277208445
NM_000518.5(HBB):c.*32A>C rs1847520793
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.*59A>G rs1345009528
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.*93_*105del rs34171453
NM_000518.5(HBB):c.-10A>G rs747545656
NM_000518.5(HBB):c.-10_-7del rs34196559
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-140C>G rs34999973
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-18C>G rs34135787
NM_000518.5(HBB):c.-22_23dup (p.Glu8delinsAspTer) rs1847587930
NM_000518.5(HBB):c.-25T>C rs886039874
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.-35A>G rs1847590703
NM_000518.5(HBB):c.-41del rs35352549
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-80T>C rs33980857
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.0_315+414del
NM_000518.5(HBB):c.0_92+25del rs1564875707
NM_000518.5(HBB):c.107A>G (p.Tyr36Cys) rs35857380
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.108C>G (p.Tyr36Ter) rs33982568
NM_000518.5(HBB):c.10C>A (p.Leu4Met) rs34126315
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.111_118del (p.Trp38fs) rs1847565768
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer) rs63750099
NM_000518.5(HBB):c.117_118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.11dup (p.Thr5fs) rs1847588915
NM_000518.5(HBB):c.123del (p.Arg41fs) rs63749957
NM_000518.5(HBB):c.125dup (p.Phe43fs) rs36029927
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.126del (p.Phe43fs) rs35755331
NM_000518.5(HBB):c.127T>C (p.Phe43Leu) rs33924146
NM_000518.5(HBB):c.127_129del (p.Phe43del) rs41417446
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.129del (p.Phe43fs) rs33979901
NM_000518.5(HBB):c.129dup (p.Glu44Ter) rs33979901
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.130dup (p.Glu44fs) rs1554917970
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.138del (p.Phe46fs) rs35133315
NM_000518.5(HBB):c.138dup (p.Gly47fs) rs35133315
NM_000518.5(HBB):c.142dup (p.Asp48fs) rs1847563072
NM_000518.5(HBB):c.143_146dup (p.Thr51fs) rs35619054
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.146del (p.Leu49fs) rs1847562491
NM_000518.5(HBB):c.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.150del (p.Thr51fs) rs1847562189
NM_000518.5(HBB):c.153del (p.Pro52fs) rs1847561978
NM_000518.5(HBB):c.155del (p.Pro52fs) rs63750128
NM_000518.5(HBB):c.158del (p.Asp53fs) rs1847561467
NM_000518.5(HBB):c.163dup (p.Val55fs) rs35165357
NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs) rs1564875331
NM_000518.5(HBB):c.165_177del (p.Met56fs) rs1847559573
NM_000518.5(HBB):c.165del (p.Met56fs) rs34960334
NM_000518.5(HBB):c.166del (p.Met56fs) rs1847560717
NM_000518.5(HBB):c.166dup (p.Met56fs) rs35171933
NM_000518.5(HBB):c.167T>C (p.Met56Thr) rs35094013
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.170_171insGCAACCCTAAGGTG (p.Gly57_Asn58insGlnProTer) rs1847560327
NM_000518.5(HBB):c.176del (p.Pro59fs) rs35395625
NM_000518.5(HBB):c.176dup (p.Pro59_Lys60insTer) rs35395625
NM_000518.5(HBB):c.178A>T (p.Lys60Ter) rs33969400
NM_000518.5(HBB):c.179del (p.Lys60fs) rs267607293
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.187_251dup (p.Thr85fs) rs1847554565
NM_000518.5(HBB):c.189_195del (p.His64fs) rs1847558511
NM_000518.5(HBB):c.18_19del (p.Glu7fs) rs281864519
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.194del (p.Gly65fs) rs36107977
NM_000518.5(HBB):c.199A>T (p.Lys67Ter) rs34165323
NM_000518.5(HBB):c.19G>T (p.Glu7Ter) rs33930165
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.1A>C (p.Met1Leu) rs34563000
NM_000518.5(HBB):c.1A>G (p.Met1Val) rs34563000
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) rs33961459
NM_000518.5(HBB):c.206_212del (p.Leu69fs) rs1847557333
NM_000518.5(HBB):c.209del (p.Gly70fs) rs1847557540
NM_000518.5(HBB):c.20_32del (p.Glu7fs) rs1847586938
NM_000518.5(HBB):c.20_45del (p.Glu7fs) rs1847585652
NM_000518.5(HBB):c.210del (p.Ala71fs) rs1847557422
NM_000518.5(HBB):c.216del (p.Phe72fs) rs1554917888
NM_000518.5(HBB):c.216dup (p.Ser73Ter) rs1554917888
NM_000518.5(HBB):c.217_221delinsT (p.Ser73fs) rs63751218
NM_000518.5(HBB):c.219dup (p.Asp74Ter) rs281864520
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.229_230del (p.Ala77fs) rs281864906
NM_000518.5(HBB):c.22G>T (p.Glu8Ter) rs34948328
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.232del (p.His78fs) rs63750504
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.235dup (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.237G>C (p.Leu79=) rs1847555518
NM_000518.5(HBB):c.237_256del (p.Asp80fs) rs1847554171
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr) rs63750519
NM_000518.5(HBB):c.244_265del (p.Asn81_Leu82insTer) rs1847553585
NM_000518.5(HBB):c.244del (p.Leu82fs) rs1847555115
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.24dup (p.Lys9fs) rs1847587799
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.253_260del (p.Thr85fs) rs1847553982
NM_000518.5(HBB):c.255dup (p.Phe86fs) rs35371965
NM_000518.5(HBB):c.258dup (p.Ala87fs) rs34831847
NM_000518.5(HBB):c.265_266del (p.Leu89fs) rs1847553498
NM_000518.5(HBB):c.266_267del (p.Leu89fs) rs1847553344
NM_000518.5(HBB):c.266dup (p.Ser90fs) rs34477959
NM_000518.5(HBB):c.269del (p.Ser90fs) rs2133587981
NM_000518.5(HBB):c.270_271del (p.Ser90fs) rs34466953
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) rs33913712
NM_000518.5(HBB):c.272_295dup (p.Glu91_His98dup) rs1847551520
NM_000518.5(HBB):c.275dup (p.His93fs) rs1847552816
NM_000518.5(HBB):c.279C>G (p.His93Gln)
NM_000518.5(HBB):c.27_28insAGAA (p.Ser10fs) rs1847587392
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.282_283dup (p.Asp95fs) rs34533941
NM_000518.5(HBB):c.287dup (p.Leu97fs) rs34937014
NM_000518.5(HBB):c.28_29insTA (p.Ser10fs) rs1847587286
NM_000518.5(HBB):c.292_295dup (p.Val99fs) rs1564874901
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe) rs63750556
NM_000518.5(HBB):c.30dup (p.Ala11fs) rs34548294
NM_000518.5(HBB):c.315+1G>C rs33945777
NM_000518.5(HBB):c.315+1G>T rs33945777
NM_000518.5(HBB):c.315+1del rs63750774
NM_000518.5(HBB):c.315+255T>C rs1847544780
NM_000518.5(HBB):c.315+2T>C rs63750283
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.315+4_315+5del rs34750035
NM_000518.5(HBB):c.315+5G>C rs35099082
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-1G>C rs33952266
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-1del rs63750692
NM_000518.5(HBB):c.316-202del rs1847537515
NM_000518.5(HBB):c.316-208C>G rs1847537539
NM_000518.5(HBB):c.316-272G>T rs773343845
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-369G>A rs1589891886
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.316-3C>T rs33913413
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-8T>G rs34793594
NM_000518.5(HBB):c.316-98_316-86dup rs1847534434
NM_000518.5(HBB):c.319C>G (p.Leu107Val) rs63750596
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.339T>A (p.Cys113Ter) rs33930977
NM_000518.5(HBB):c.339_345dup (p.Ala116fs) rs281864527
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.33del (p.Val12fs) rs1554918214
NM_000518.5(HBB):c.340del (p.Val114fs)
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) rs36015961
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs) rs63751306
NM_000518.5(HBB):c.354del (p.Phe119fs) rs281864528
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.36del (p.Thr13fs) rs34856846
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.373C>A (p.Pro125Thr) rs35461710
NM_000518.5(HBB):c.375dup (p.Pro126fs) rs281864544
NM_000518.5(HBB):c.378del (p.Val127fs) rs34363638
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
NM_000518.5(HBB):c.387T>A (p.Ala129=) rs1248780802
NM_000518.5(HBB):c.394C>T (p.Gln132Ter) rs33910209
NM_000518.5(HBB):c.394_404del (p.Gln132fs)
NM_000518.5(HBB):c.395dup (p.Lys133fs) rs281864531
NM_000518.5(HBB):c.397A>T (p.Lys133Ter) rs33953406
NM_000518.5(HBB):c.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.3G>C (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.3G>T (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.40G>A (p.Ala14Thr) rs766266418
NM_000518.5(HBB):c.417dup (p.Asn140Ter) rs1847523960
NM_000518.5(HBB):c.429_430del (p.His144fs) rs281864497
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.44del (p.Leu15fs) rs1847585864
NM_000518.5(HBB):c.44dup (p.Trp16fs) rs1847585812
NM_000518.5(HBB):c.45dup (p.Trp16fs) rs35383398
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.4del (p.Val2fs) rs63750475
NM_000518.5(HBB):c.50del (p.Gly17fs) rs1847584946
NM_000518.5(HBB):c.50dup (p.Lys18fs) rs1847584946
NM_000518.5(HBB):c.56T>G (p.Val19Gly) rs35382661
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.67G>T (p.Glu23Ter) rs33959855
NM_000518.5(HBB):c.68_74del (p.Glu23fs) rs281864898
NM_000518.5(HBB):c.72T>A (p.Val24=) rs2133589317
NM_000518.5(HBB):c.74del (p.Gly25fs) rs1847582194
NM_000518.5(HBB):c.74delinsCAC (p.Gly25fs) rs281864899
NM_000518.5(HBB):c.76_92+27del rs63751076
NM_000518.5(HBB):c.78dup (p.Glu27Ter) rs35619688
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.79_80insT (p.Glu27fs) rs35477349
NM_000518.5(HBB):c.85del (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.89del (p.Gly30fs) rs267607295
NM_000518.5(HBB):c.8_16delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT (p.His3_Pro6delinsProGluValLysSerAlaTer) rs1847588699
NM_000518.5(HBB):c.8del (p.His3fs) rs1847589398
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.91A>G (p.Arg31Gly) rs35684407
NM_000518.5(HBB):c.91del (p.Arg31fs) rs1847579861
NM_000518.5(HBB):c.92+13G>T rs753444453
NM_000518.5(HBB):c.92+1G>C rs33971440
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+2T>G rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.92_94dup (p.Arg31dup) rs35348864
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000518.5(HBB):c.93-17_93-1del rs1554918032
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-1G>C rs33943001
NM_000518.5(HBB):c.93-21_96del rs63750223
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-2A>C rs63750513
NM_000518.5(HBB):c.93-2A>G rs63750513
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000518.5(HBB):c.93-6C>T rs1554918048
NM_000518.5(HBB):c.93G>C (p.Arg31Ser) rs1135071
NM_000518.5(HBB):c.94del (p.Leu32fs) rs63749977
NM_000518.5(HBB):c.[17del;9dup]
NM_000518.5(HBB):c.[385_388delinsCCACA;397_407del]
NM_000519.4(HBD):c.*65T>C rs1847687778
NM_000519.4(HBD):c.*91G>A rs886048394
NM_000519.4(HBD):c.6G>A (p.Val2=) rs1454993638
NM_000519.4(HBD):c.76G>A (p.Gly26Ser) rs886048395
NM_000546.6(TP53):c.1077del (p.Ser362fs) rs1555524370
NM_000546.6(TP53):c.1083del (p.Ser362fs) rs1555524354
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000558.5(HBA1):c.262C>T (p.His88Tyr) rs28928876
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364
NM_000558.5(HBA1):c.94_95del (p.Arg32fs) rs1596573477
NM_000559.2(HBG1):c.-170G>A rs35378915
NM_000559.2(HBG1):c.-53-195C>G rs35321913
NM_000559.2(HBG1):c.-53-198T>C rs35710727
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_000611.6(CD59):c.123del (p.Val42fs) rs2133545024
NM_000611.6(CD59):c.146del (p.Asp49fs) rs587777149
NM_000611.6(CD59):c.190T>G (p.Cys64Gly) rs1554939509
NM_000611.6(CD59):c.266G>A (p.Cys89Tyr) rs397514767
NM_000611.6(CD59):c.286_295del (p.Phe96fs)
NM_000611.6(CD59):c.83G>A (p.Cys28Tyr) rs1853849281
NM_000611.6(CD59):c.85T>G (p.Tyr29Asp) rs1564972905
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.1246C>T (p.Arg416Cys) rs121918366
NM_000617.3(SLC11A2):c.1421+8T>A rs886049566
NM_000617.3(SLC11A2):c.1576-7C>G rs1940818391
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg) rs1592380743
NM_000617.3(SLC11A2):c.309+44A>C rs224589
NM_000617.3(SLC11A2):c.310-5_310-3del rs1399911403
NM_000617.3(SLC11A2):c.341_343del (p.Val114del) rs2136280484
NM_000617.3(SLC11A2):c.436C>G (p.Arg146Gly) rs774857007
NM_000617.3(SLC11A2):c.578C>T (p.Thr193Ile)
NM_000617.3(SLC11A2):c.675+35A>G
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser) rs1592344306
NM_000617.3(SLC11A2):c.828C>G (p.Val276=) rs754854640
NM_000619.3(IFNG):c.*107A>G rs886049800
NM_000619.3(IFNG):c.*187T>G rs1213374453
NM_000619.3(IFNG):c.*22T>A rs1882583669
NM_000619.3(IFNG):c.*93TCAA[1] rs137854903
NM_000619.3(IFNG):c.*9C>T rs886049801
NM_000619.3(IFNG):c.-2C>A rs886049802
NM_000619.3(IFNG):c.-9T>C rs886049803
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter) rs753611452
NM_000637.5(GSR):c.1023C>G (p.Asp341Glu)
NM_000637.5(GSR):c.1054G>A (p.Asp352Asn)
NM_000637.5(GSR):c.1060A>G (p.Lys354Glu)
NM_000637.5(GSR):c.1081G>A (p.Glu361Lys)
NM_000637.5(GSR):c.1121G>C (p.Gly374Ala) rs1586033745
NM_000637.5(GSR):c.1171C>T (p.Arg391Ter)
NM_000637.5(GSR):c.1196A>C (p.Glu399Ala)
NM_000637.5(GSR):c.1256C>T (p.Pro419Leu)
NM_000637.5(GSR):c.1286-229_*499del
NM_000637.5(GSR):c.1358C>T (p.Ala453Val)
NM_000637.5(GSR):c.13C>T (p.Pro5Ser)
NM_000637.5(GSR):c.1486A>C (p.Lys496Gln)
NM_000637.5(GSR):c.1525G>A (p.Ala509Thr)
NM_000637.5(GSR):c.172G>T (p.Ala58Ser)
NM_000637.5(GSR):c.227_253dup (p.Ala84_Glu85insGlyLeuAlaSerAlaArgArgAlaAla)
NM_000637.5(GSR):c.372T>C (p.His124=)
NM_000637.5(GSR):c.395C>T (p.Pro132Leu)
NM_000637.5(GSR):c.433G>A (p.Glu145Lys)
NM_000637.5(GSR):c.439C>G (p.Arg147Gly) rs150594097
NM_000637.5(GSR):c.476A>T (p.Gln159Leu)
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_000637.5(GSR):c.781A>G (p.Ile261Val)
NM_000637.5(GSR):c.815C>T (p.Ser272Leu)
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
NM_000791.4(DHFR):c.-406CGCTGCAGC[1] rs758595508
NM_000791.4(DHFR):c.-409_-392del rs201874762
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_000791.4(DHFR):c.238C>T (p.Leu80Phe) rs387906619
NM_000791.4(DHFR):c.335T>G (p.Met112Arg)
NM_000791.4(DHFR):c.458A>T (p.Asp153Val) rs121913223
NM_000969.5(RPL5):c.-2G>A rs886046558
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000969.5(RPL5):c.-46C>G rs376208311
NM_000969.5(RPL5):c.-58G>T rs200437092
NM_000969.5(RPL5):c.-64C>G rs1006135937
NM_000969.5(RPL5):c.-70T>A rs551112484
NM_000969.5(RPL5):c.-74C>A rs752282235
NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.122_144del (p.Lys41fs) rs2100676969
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.138A>C (p.Thr46=)
NM_000969.5(RPL5):c.153del (p.Met51fs) rs2100677043
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter) rs2100677045
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs) rs1571024385
NM_000969.5(RPL5):c.15dup (p.Val6fs) rs1686990676
NM_000969.5(RPL5):c.161G>C (p.Arg54Pro)
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.173del (p.Arg58fs)
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.178_179del (p.Ile60fs)
NM_000969.5(RPL5):c.179T>C (p.Ile60Thr)
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
NM_000969.5(RPL5):c.189+1G>C
NM_000969.5(RPL5):c.189+20G>A
NM_000969.5(RPL5):c.189+2T>G rs1687004626
NM_000969.5(RPL5):c.189+5G>A
NM_000969.5(RPL5):c.190-10C>T
NM_000969.5(RPL5):c.190-18G>C
NM_000969.5(RPL5):c.190-18G>T
NM_000969.5(RPL5):c.190-3T>C
NM_000969.5(RPL5):c.190-6C>A
NM_000969.5(RPL5):c.190-7_190-2del rs1064796479
NM_000969.5(RPL5):c.192T>G (p.Ile64Met)
NM_000969.5(RPL5):c.198T>C (p.Tyr66=)
NM_000969.5(RPL5):c.1A>C (p.Met1Leu) rs2100672432
NM_000969.5(RPL5):c.208G>A (p.Glu70Lys)
NM_000969.5(RPL5):c.215_218del (p.Asp72fs)
NM_000969.5(RPL5):c.220A>G (p.Ile74Val)
NM_000969.5(RPL5):c.222dup (p.Val75fs)
NM_000969.5(RPL5):c.225C>G (p.Val75=) rs2100680579
NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)
NM_000969.5(RPL5):c.232G>A (p.Ala78Thr)
NM_000969.5(RPL5):c.233C>G (p.Ala78Gly)
NM_000969.5(RPL5):c.234G>A (p.Ala78=)
NM_000969.5(RPL5):c.235dup (p.Tyr79fs) rs1571026775
NM_000969.5(RPL5):c.236A>T (p.Tyr79Phe)
NM_000969.5(RPL5):c.236del (p.Tyr79fs)
NM_000969.5(RPL5):c.244G>A (p.Glu82Lys) rs587777117
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.251C>G (p.Pro84Arg) rs970129317
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.257A>G (p.Tyr86Cys)
NM_000969.5(RPL5):c.268del (p.Val90fs) rs1687054029
NM_000969.5(RPL5):c.26del (p.Asn9fs)
NM_000969.5(RPL5):c.272del (p.Gly91fs)
NM_000969.5(RPL5):c.294A>G (p.Ala98=)
NM_000969.5(RPL5):c.298T>G (p.Cys100Gly) rs2100680814
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.3+11G>C rs376414614
NM_000969.5(RPL5):c.3+18T>G
NM_000969.5(RPL5):c.3+19C>G
NM_000969.5(RPL5):c.3+1G>A
NM_000969.5(RPL5):c.3+3G>A
NM_000969.5(RPL5):c.3+3G>T rs200628272
NM_000969.5(RPL5):c.3+5G>A
NM_000969.5(RPL5):c.3+5G>C
NM_000969.5(RPL5):c.310C>T (p.Leu104=) rs766476007
NM_000969.5(RPL5):c.316G>A (p.Ala106Thr) rs1687056401
NM_000969.5(RPL5):c.319C>T (p.Arg107Cys)
NM_000969.5(RPL5):c.324+8C>A
NM_000969.5(RPL5):c.325-14G>A
NM_000969.5(RPL5):c.325-16T>C rs1687116560
NM_000969.5(RPL5):c.325-17A>G rs2100684491
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro) rs878854146
NM_000969.5(RPL5):c.332A>G (p.Asn111Ser)
NM_000969.5(RPL5):c.335G>A (p.Arg112Lys)
NM_000969.5(RPL5):c.344T>C (p.Met115Thr) rs1687118423
NM_000969.5(RPL5):c.35A>G (p.Tyr12Cys) rs1686991615
NM_000969.5(RPL5):c.367G>C (p.Val123Leu)
NM_000969.5(RPL5):c.377C>T (p.Thr126Ile)
NM_000969.5(RPL5):c.385G>T (p.Glu129Ter)
NM_000969.5(RPL5):c.391A>G (p.Asn131Asp)
NM_000969.5(RPL5):c.393T>C (p.Asn131=)
NM_000969.5(RPL5):c.399A>G (p.Glu133=)
NM_000969.5(RPL5):c.3G>A (p.Met1Ile)
NM_000969.5(RPL5):c.4-10T>A rs1686989669
NM_000969.5(RPL5):c.4-10T>C rs1686989669
NM_000969.5(RPL5):c.4-17A>T
NM_000969.5(RPL5):c.4-1G>A
NM_000969.5(RPL5):c.4-7C>T
NM_000969.5(RPL5):c.4-7_4-4del rs1558283792
NM_000969.5(RPL5):c.4-7del rs1291987734
NM_000969.5(RPL5):c.4-9T>C
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg) rs1687120549
NM_000969.5(RPL5):c.404T>C (p.Ile135Thr) rs771599532
NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)
NM_000969.5(RPL5):c.415C>T (p.Pro139Ser)
NM_000969.5(RPL5):c.419G>A (p.Gly140Asp) rs367631074
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.427A>G (p.Thr143Ala)
NM_000969.5(RPL5):c.443C>T (p.Ala148Val)
NM_000969.5(RPL5):c.448C>T (p.Leu150Phe)
NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter) rs1687123286
NM_000969.5(RPL5):c.468C>T (p.Gly156=)
NM_000969.5(RPL5):c.479_480del (p.Phe160fs)
NM_000969.5(RPL5):c.48C>A (p.Tyr16Ter)
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter) rs148673599
NM_000969.5(RPL5):c.500dup (p.Asp168fs) rs2100685034
NM_000969.5(RPL5):c.509del (p.Gly170fs)
NM_000969.5(RPL5):c.51A>G (p.Gln17=)
NM_000969.5(RPL5):c.527+14_527+17dup
NM_000969.5(RPL5):c.527+1G>T rs2100685111
NM_000969.5(RPL5):c.527+20C>T
NM_000969.5(RPL5):c.527+7A>T
NM_000969.5(RPL5):c.527+7_527+19del rs2100685123
NM_000969.5(RPL5):c.528-17G>A
NM_000969.5(RPL5):c.528-1G>A
NM_000969.5(RPL5):c.528-20T>C
NM_000969.5(RPL5):c.549T>C (p.Tyr183=)
NM_000969.5(RPL5):c.556G>C (p.Glu186Gln)
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_000969.5(RPL5):c.566A>G (p.Glu189Gly)
NM_000969.5(RPL5):c.567A>C (p.Glu189Asp)
NM_000969.5(RPL5):c.576A>G (p.Ala192=)
NM_000969.5(RPL5):c.583C>A (p.His195Asn)
NM_000969.5(RPL5):c.586C>T (p.Arg196Trp)
NM_000969.5(RPL5):c.598A>G (p.Met200Val)
NM_000969.5(RPL5):c.601G>A (p.Gly201Ser)
NM_000969.5(RPL5):c.608dup (p.Asn203fs) rs2100688383
NM_000969.5(RPL5):c.60del (p.Phe20fs)
NM_000969.5(RPL5):c.611T>C (p.Val204Ala) rs1687176905
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr) rs1571031819
NM_000969.5(RPL5):c.613dup (p.Ala205fs) rs2100688414
NM_000969.5(RPL5):c.614C>G (p.Ala205Gly)
NM_000969.5(RPL5):c.619_620insTGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATT (p.Tyr207fs)
NM_000969.5(RPL5):c.626G>T (p.Arg209Leu)
NM_000969.5(RPL5):c.631T>A (p.Leu211Ile)
NM_000969.5(RPL5):c.634dup (p.Met212fs) rs1687178005
NM_000969.5(RPL5):c.651T>C (p.Asp217=)
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.674A>C (p.Gln225Pro) rs1687179289
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.692dup (p.Thr232fs) rs1571032029
NM_000969.5(RPL5):c.695C>T (p.Thr232Ile)
NM_000969.5(RPL5):c.6G>A (p.Gly2=)
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000969.5(RPL5):c.703A>G (p.Met235Val)
NM_000969.5(RPL5):c.705+14C>T rs2100688720
NM_000969.5(RPL5):c.705+4A>G
NM_000969.5(RPL5):c.705G>A (p.Met235Ile)
NM_000969.5(RPL5):c.706-10T>C
NM_000969.5(RPL5):c.706-13T>A
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
NM_000969.5(RPL5):c.718T>C (p.Tyr240His) rs2100696942
NM_000969.5(RPL5):c.71del (p.Arg24fs)
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
NM_000969.5(RPL5):c.73+10C>T
NM_000969.5(RPL5):c.73+2T>G rs142156224
NM_000969.5(RPL5):c.73+9dup
NM_000969.5(RPL5):c.74-15_74-13del rs2100676802
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_000969.5(RPL5):c.74-2A>G rs2100676852
NM_000969.5(RPL5):c.74-2del
NM_000969.5(RPL5):c.74-7C>T
NM_000969.5(RPL5):c.74-8dup
NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)
NM_000969.5(RPL5):c.744A>G (p.Arg248=)
NM_000969.5(RPL5):c.761A>G (p.Glu254Gly)
NM_000969.5(RPL5):c.763AAG[1] (p.Lys256del) rs1571038275
NM_000969.5(RPL5):c.779A>C (p.Glu260Ala)
NM_000969.5(RPL5):c.785A>G (p.Lys262Arg)
NM_000969.5(RPL5):c.788A>G (p.Lys263Arg)
NM_000969.5(RPL5):c.78T>G (p.Gly26=)
NM_000969.5(RPL5):c.794+10_794+12del rs1557444104
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_000969.5(RPL5):c.794+17_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136
NM_000969.5(RPL5):c.795-14C>A
NM_000969.5(RPL5):c.795-14C>G
NM_000969.5(RPL5):c.831G>T (p.Lys277Asn)
NM_000969.5(RPL5):c.832G>A (p.Asp278Asn) rs764283613
NM_000969.5(RPL5):c.838G>A (p.Val280Ile) rs1687377449
NM_000969.5(RPL5):c.83del (p.Thr28fs)
NM_000969.5(RPL5):c.854C>A (p.Ala285Glu)
NM_000969.5(RPL5):c.856A>G (p.Ser286Gly)
NM_000969.5(RPL5):c.858C>T (p.Ser286=)
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
NM_000969.5(RPL5):c.877C>T (p.Arg293Trp)
NM_000969.5(RPL5):c.889A>C (p.Ser297Arg)
NM_000969.5(RPL5):c.890_893dup (p.Ter298=) rs1687379541
NM_000969.5(RPL5):c.891C>A (p.Ser297Arg)
NM_000969.5(RPL5):c.92dup (p.Tyr31Ter)
NM_000969.5(RPL5):c.9_12del (p.Phe3fs) rs1686990557
NM_000969.5(RPL5):c.[189+267G>C;189+288A>G;189+309A>G;189+364G>A;189+387A>T]
NM_000975.5(RPL11):c.100dup (p.Thr34fs)
NM_000975.5(RPL11):c.102G>C (p.Thr34=) rs199772693
NM_000975.5(RPL11):c.102dup (p.Arg35fs)
NM_000975.5(RPL11):c.107del (p.Ala36fs) rs2124429127
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.118T>C (p.Leu40=)
NM_000975.5(RPL11):c.121G>T (p.Glu41Ter) rs2124429140
NM_000975.5(RPL11):c.123G>A (p.Glu41=)
NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)
NM_000975.5(RPL11):c.136_157+26del rs2124429146
NM_000975.5(RPL11):c.139A>G (p.Thr47Ala)
NM_000975.5(RPL11):c.142C>T (p.Pro48Ser)
NM_000975.5(RPL11):c.142_143dup (p.Val49fs) rs1570566714
NM_000975.5(RPL11):c.14A>G (p.Gln5Arg) rs775235867
NM_000975.5(RPL11):c.151dup (p.Ser51fs) rs2124429183
NM_000975.5(RPL11):c.157+7dup
NM_000975.5(RPL11):c.157+9T>G
NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.158-1G>C
NM_000975.5(RPL11):c.158-2A>C
NM_000975.5(RPL11):c.158-7C>G rs768654673
NM_000975.5(RPL11):c.160dup (p.Arg54fs) rs1644516691
NM_000975.5(RPL11):c.180T>C (p.Phe60=)
NM_000975.5(RPL11):c.189G>A (p.Arg63=) rs764531667
NM_000975.5(RPL11):c.203T>C (p.Ile68Thr) rs1644517016
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.214T>C (p.Cys72Arg)
NM_000975.5(RPL11):c.217A>G (p.Thr73Ala)
NM_000975.5(RPL11):c.219A>G (p.Thr73=)
NM_000975.5(RPL11):c.222T>G (p.Val74=)
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.236C>T (p.Ala79Val)
NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del)
NM_000975.5(RPL11):c.264+13C>T
NM_000975.5(RPL11):c.264+15C>A rs765761574
NM_000975.5(RPL11):c.264+16del
NM_000975.5(RPL11):c.264+1G>A rs1553121795
NM_000975.5(RPL11):c.264+3G>A
NM_000975.5(RPL11):c.264+4A>T
NM_000975.5(RPL11):c.265-2A>G rs2124430919
NM_000975.5(RPL11):c.265-6C>T
NM_000975.5(RPL11):c.265-9dup
NM_000975.5(RPL11):c.269G>A (p.Arg90Gln) rs757131066
NM_000975.5(RPL11):c.270G>A (p.Arg90=) rs886046308
NM_000975.5(RPL11):c.285A>G (p.Arg95=)
NM_000975.5(RPL11):c.28A>T (p.Asn10Tyr)
NM_000975.5(RPL11):c.296_298del (p.Phe99del) rs1553121852
NM_000975.5(RPL11):c.298_299del (p.Ser100fs)
NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
NM_000975.5(RPL11):c.311del (p.Asn104fs)
NM_000975.5(RPL11):c.325A>G (p.Ile109Val)
NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)
NM_000975.5(RPL11):c.33del (p.Met12fs)
NM_000975.5(RPL11):c.343C>T (p.Leu115=) rs770189198
NM_000975.5(RPL11):c.375C>T (p.Ile125=) rs2124431138
NM_000975.5(RPL11):c.38G>A (p.Arg13Gln)
NM_000975.5(RPL11):c.396+20del
NM_000975.5(RPL11):c.396+3A>G
NM_000975.5(RPL11):c.397-11_397-10delinsAT
NM_000975.5(RPL11):c.397-2A>G rs2124432051
NM_000975.5(RPL11):c.400C>A (p.Leu134Met) rs1644529675
NM_000975.5(RPL11):c.426A>G (p.Ala142=)
NM_000975.5(RPL11):c.430AAG[1] (p.Lys145del)
NM_000975.5(RPL11):c.431A>G (p.Lys144Arg)
NM_000975.5(RPL11):c.437G>A (p.Arg146His)
NM_000975.5(RPL11):c.437G>T (p.Arg146Leu)
NM_000975.5(RPL11):c.438C>A (p.Arg146=)
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_000975.5(RPL11):c.463_508-69del
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_000975.5(RPL11):c.465_475dup (p.Lys159fs)
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000975.5(RPL11):c.478G>C (p.Glu160Gln)
NM_000975.5(RPL11):c.479AGG[1] (p.Glu161del) rs1570569083
NM_000975.5(RPL11):c.490C>T (p.Arg164Cys)
NM_000975.5(RPL11):c.498C>T (p.Phe166=)
NM_000975.5(RPL11):c.4G>T (p.Ala2Ser) rs1553121574
NM_000975.5(RPL11):c.504G>A (p.Gln168=)
NM_000975.5(RPL11):c.507+16C>T
NM_000975.5(RPL11):c.508-12C>G
NM_000975.5(RPL11):c.508-1G>A
NM_000975.5(RPL11):c.508-20_508-17del
NM_000975.5(RPL11):c.508-2A>G rs1570569383
NM_000975.5(RPL11):c.508-3C>G
NM_000975.5(RPL11):c.508-7C>T
NM_000975.5(RPL11):c.508-9_508-5del
NM_000975.5(RPL11):c.518T>A (p.Ile173Asn)
NM_000975.5(RPL11):c.53_58del (p.Arg18_Lys19del)
NM_000975.5(RPL11):c.6+10T>A
NM_000975.5(RPL11):c.6+12G>C
NM_000975.5(RPL11):c.6+14A>G rs376826360
NM_000975.5(RPL11):c.6+15C>T rs753341830
NM_000975.5(RPL11):c.6+16C>G
NM_000975.5(RPL11):c.6+18G>A
NM_000975.5(RPL11):c.6+18_6+19delinsAT rs2124428020
NM_000975.5(RPL11):c.6+19G>C
NM_000975.5(RPL11):c.6+20A>T
NM_000975.5(RPL11):c.6+2T>C
NM_000975.5(RPL11):c.6+3G>A
NM_000975.5(RPL11):c.6+8G>T
NM_000975.5(RPL11):c.60C>G (p.Leu20=) rs2124429060
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000975.5(RPL11):c.62_63del (p.Cys21fs) rs1570566592
NM_000975.5(RPL11):c.68A>G (p.Asn23Ser) rs2124429076
NM_000975.5(RPL11):c.7-10C>T rs773406981
NM_000975.5(RPL11):c.7-19C>T
NM_000975.5(RPL11):c.7-1G>T rs1644507858
NM_000975.5(RPL11):c.7-6T>G
NM_000975.5(RPL11):c.7-7G>C
NM_000975.5(RPL11):c.7-9C>T rs558662093
NM_000975.5(RPL11):c.75T>C (p.Cys25=)
NM_000975.5(RPL11):c.7C>G (p.Gln3Glu)
NM_000975.5(RPL11):c.87T>C (p.Ser29=)
NM_000975.5(RPL11):c.94A>C (p.Arg32=)
NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)
NM_000975.5(RPL11):c.95_96del (p.Arg32fs)
NM_000975.5(RPL11):c.96_109del (p.Arg32fs)
NM_000975.5(RPL11):c.9G>A (p.Gln3=)
NM_000979.4(RPL18):c.152T>C (p.Leu51Ser) rs1568425218
NM_000981.4(RPL19):c.126G>C (p.Arg42=)
NM_000981.4(RPL19):c.190C>A (p.Arg64=) rs2228666
NM_000981.4(RPL19):c.210C>T (p.Arg70=)
NM_000981.4(RPL19):c.456G>A (p.Lys152=)
NM_000981.4(RPL19):c.534G>A (p.Gln178=) rs72823350
NM_000981.4(RPL19):c.537C>G (p.Ala179=)
NM_000981.4(RPL19):c.564A>G (p.Leu188=) rs758902267
NM_000981.4(RPL19):c.585G>A (p.Lys195=) rs751845105
NM_000987.5(RPL26):c.-5-16_-5-15del rs533883480
NM_000987.5(RPL26):c.105C>G (p.Ser35=)
NM_000987.5(RPL26):c.107A>T (p.Lys36Ile)
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) rs397518451
NM_000987.5(RPL26):c.130G>T (p.Val44Leu) rs2151675473
NM_000987.5(RPL26):c.133C>G (p.Arg45Gly)
NM_000987.5(RPL26):c.139A>G (p.Met47Val) rs2151675468
NM_000987.5(RPL26):c.145A>G (p.Ile49Val) rs1193599772
NM_000987.5(RPL26):c.15C>G (p.Pro5=)
NM_000987.5(RPL26):c.15C>T (p.Pro5=)
NM_000987.5(RPL26):c.168+11C>G
NM_000987.5(RPL26):c.168+15T>G
NM_000987.5(RPL26):c.168+18T>G
NM_000987.5(RPL26):c.168+4T>G
NM_000987.5(RPL26):c.168+6T>G
NM_000987.5(RPL26):c.169-16T>C
NM_000987.5(RPL26):c.169-19C>T
NM_000987.5(RPL26):c.180A>G (p.Gly60=)
NM_000987.5(RPL26):c.234T>C (p.Tyr78=)
NM_000987.5(RPL26):c.243C>T (p.Tyr81=)
NM_000987.5(RPL26):c.251G>C (p.Arg84Pro)
NM_000987.5(RPL26):c.276C>A (p.Gly92=)
NM_000987.5(RPL26):c.286C>T (p.His96Tyr)
NM_000987.5(RPL26):c.29A>C (p.Asp10Ala)
NM_000987.5(RPL26):c.300C>T (p.His100=)
NM_000987.5(RPL26):c.309+13G>T
NM_000987.5(RPL26):c.309+13_309+14delinsCT
NM_000987.5(RPL26):c.309+18T>C
NM_000987.5(RPL26):c.309+7G>T
NM_000987.5(RPL26):c.310-16dup
NM_000987.5(RPL26):c.313G>A (p.Val105Ile)
NM_000987.5(RPL26):c.332T>C (p.Leu111Pro)
NM_000987.5(RPL26):c.341del (p.Asp114fs) rs2151671987
NM_000987.5(RPL26):c.349A>C (p.Lys117Gln)
NM_000987.5(RPL26):c.352A>T (p.Ile118Phe)
NM_000987.5(RPL26):c.357C>G (p.Leu119=)
NM_000987.5(RPL26):c.359A>G (p.Glu120Gly) rs1907207139
NM_000987.5(RPL26):c.361C>T (p.Arg121Trp) rs763691423
NM_000987.5(RPL26):c.369C>T (p.Ala123=)
NM_000987.5(RPL26):c.371A>C (p.Lys124Thr)
NM_000987.5(RPL26):c.377G>A (p.Arg126His) rs932068728
NM_000987.5(RPL26):c.377G>C (p.Arg126Pro)
NM_000987.5(RPL26):c.382G>A (p.Val128Ile)
NM_000987.5(RPL26):c.384A>T (p.Val128=) rs201307266
NM_000987.5(RPL26):c.388A>G (p.Lys130Glu)
NM_000987.5(RPL26):c.408G>A (p.Lys136=)
NM_000987.5(RPL26):c.416C>T (p.Thr139Ile)
NM_000987.5(RPL26):c.426G>A (p.Lys142=)
NM_000987.5(RPL26):c.436T>G (p.Ter146Glu)
NM_000987.5(RPL26):c.44G>T (p.Arg15Leu)
NM_000987.5(RPL26):c.45C>T (p.Arg15=)
NM_000987.5(RPL26):c.58A>G (p.Asn20Asp)
NM_000987.5(RPL26):c.72C>T (p.His24=)
NM_000987.5(RPL26):c.83A>G (p.Lys28Arg)
NM_000988.5(RPL27):c.-2-1G>A rs1085307119
NM_000996.4(RPL35A):c.*21T>A rs199693579
NM_000996.4(RPL35A):c.-32-2A>T
NM_000996.4(RPL35A):c.-37T>G rs886058265
NM_000996.4(RPL35A):c.105C>T (p.Ala35=)
NM_000996.4(RPL35A):c.109G>A (p.Asp37Asn) rs1401367420
NM_000996.4(RPL35A):c.11+3A>G
NM_000996.4(RPL35A):c.11+4C>T
NM_000996.4(RPL35A):c.11+6C>A
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.12-10del rs765692254
NM_000996.4(RPL35A):c.12-18G>T
NM_000996.4(RPL35A):c.12-4T>G
NM_000996.4(RPL35A):c.12-5C>T
NM_000996.4(RPL35A):c.12-7G>T rs2109804559
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
NM_000996.4(RPL35A):c.138A>G (p.Arg46=)
NM_000996.4(RPL35A):c.141C>G (p.Cys47Trp)
NM_000996.4(RPL35A):c.147T>C (p.Tyr49=)
NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)
NM_000996.4(RPL35A):c.158C>G (p.Ala53Gly)
NM_000996.4(RPL35A):c.162G>T (p.Lys54Asn)
NM_000996.4(RPL35A):c.164+13C>T rs2109805109
NM_000996.4(RPL35A):c.164+15C>G rs890177445
NM_000996.4(RPL35A):c.164+15C>T
NM_000996.4(RPL35A):c.164+1G>A rs113752862
NM_000996.4(RPL35A):c.165-15C>G
NM_000996.4(RPL35A):c.165-16_166del
NM_000996.4(RPL35A):c.165-20C>T
NM_000996.4(RPL35A):c.16T>C (p.Trp6Arg)
NM_000996.4(RPL35A):c.183C>T (p.Gly61=) rs370212853
NM_000996.4(RPL35A):c.184G>A (p.Gly62Ser)
NM_000996.4(RPL35A):c.186C>T (p.Gly62=)
NM_000996.4(RPL35A):c.202A>G (p.Arg68Gly)
NM_000996.4(RPL35A):c.204A>G (p.Arg68=)
NM_000996.4(RPL35A):c.209T>C (p.Ile70Thr)
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_000996.4(RPL35A):c.227G>A (p.Arg76Gln)
NM_000996.4(RPL35A):c.227G>C (p.Arg76Pro)
NM_000996.4(RPL35A):c.251T>A (p.Val84Asp)
NM_000996.4(RPL35A):c.253C>T (p.Arg85Cys)
NM_000996.4(RPL35A):c.258C>A (p.Ala86=)
NM_000996.4(RPL35A):c.258del (p.Lys87fs) rs1581106084
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) rs1560123334
NM_000996.4(RPL35A):c.278C>T (p.Pro93Leu)
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840
NM_000996.4(RPL35A):c.282T>G (p.Ala94=)
NM_000996.4(RPL35A):c.289A>G (p.Ile97Val)
NM_000996.4(RPL35A):c.301A>G (p.Ile101Val)
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.306A>C (p.Arg102=)
NM_000996.4(RPL35A):c.308T>C (p.Val103Ala)
NM_000996.4(RPL35A):c.309+3G>C
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_000996.4(RPL35A):c.309+7A>G
NM_000996.4(RPL35A):c.310-20G>A rs200360699
NM_000996.4(RPL35A):c.310-20G>C rs200360699
NM_000996.4(RPL35A):c.310-6del rs2109818917
NM_000996.4(RPL35A):c.320C>T (p.Pro107Leu) rs2109818973
NM_000996.4(RPL35A):c.321C>T (p.Pro107=)
NM_000996.4(RPL35A):c.324A>G (p.Ser108=) rs751160471
NM_000996.4(RPL35A):c.332A>G (p.Ter111=)
NM_000996.4(RPL35A):c.33T>C (p.Phe11=) rs751752645
NM_000996.4(RPL35A):c.41A>T (p.Tyr14Phe) rs1366033915
NM_000996.4(RPL35A):c.44A>G (p.Lys15Arg)
NM_000996.4(RPL35A):c.75A>G (p.Thr25=) rs1244935223
NM_000996.4(RPL35A):c.77C>T (p.Ala26Val) rs2109804811
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.85A>G (p.Lys29Glu)
NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr) rs1720051488
NM_000996.4(RPL35A):c.90T>C (p.Ile30=) rs2109804838
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808
NM_001002010.5(NT5C3A):c.129C>A (p.Ile43=)
NM_001002010.5(NT5C3A):c.139-9048_139-9037del
NM_001002010.5(NT5C3A):c.139-9060del rs143513903
NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)
NM_001002010.5(NT5C3A):c.21G>A (p.Ala7=)
NM_001002010.5(NT5C3A):c.254A>T (p.Asp85Val)
NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)
NM_001002010.5(NT5C3A):c.342dup (p.Cys115fs) rs2127996432
NM_001002010.5(NT5C3A):c.354+17A>G
NM_001002010.5(NT5C3A):c.362A>C (p.Gln121Pro)
NM_001002010.5(NT5C3A):c.430A>G (p.Met144Val)
NM_001002010.5(NT5C3A):c.486dup (p.Ala163fs) rs397518437
NM_001002010.5(NT5C3A):c.520G>A (p.Val174Ile)
NM_001002010.5(NT5C3A):c.544A>C (p.Asn182His)
NM_001002010.5(NT5C3A):c.554A>G (p.Asp185Gly)
NM_001002010.5(NT5C3A):c.599G>T (p.Gly200Val)
NM_001002010.5(NT5C3A):c.607G>A (p.Asp203Asn)
NM_001002010.5(NT5C3A):c.628C>T (p.Arg210Cys)
NM_001002010.5(NT5C3A):c.645T>G (p.Tyr215Ter) rs104894027
NM_001002010.5(NT5C3A):c.670A>C (p.Asn224His) rs2127993476
NM_001002010.5(NT5C3A):c.679del (p.Asp227fs) rs397518438
NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val) rs1583891936
NM_001002010.5(NT5C3A):c.694-1G>C rs397518435
NM_001002010.5(NT5C3A):c.694-1G>T rs397518435
NM_001002010.5(NT5C3A):c.697G>T (p.Val233Leu)
NM_001002010.5(NT5C3A):c.718G>T (p.Glu240Ter) rs925502732
NM_001002010.5(NT5C3A):c.809T>C (p.Leu270Pro)
NM_001002010.5(NT5C3A):c.823G>C (p.Gly275Arg) rs104894029
NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)
NM_001002010.5(NT5C3A):c.921_953dup (p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu)
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001011.4(RPS7):c.-19+1G>A rs1064796859
NM_001011.4(RPS7):c.-19+1G>T
NM_001011.4(RPS7):c.-19+1del
NM_001011.4(RPS7):c.-19+2T>A
NM_001011.4(RPS7):c.-19G>C
NM_001011.4(RPS7):c.-23G>A rs886055985
NM_001011.4(RPS7):c.-44C>T rs563293592
NM_001011.4(RPS7):c.105C>T (p.Asp35=)
NM_001011.4(RPS7):c.113C>T (p.Ala38Val) rs929660330
NM_001011.4(RPS7):c.118C>G (p.Leu40Val)
NM_001011.4(RPS7):c.118C>T (p.Leu40Phe)
NM_001011.4(RPS7):c.120C>A (p.Leu40=)
NM_001011.4(RPS7):c.129G>A (p.Leu43=)
NM_001011.4(RPS7):c.133A>G (p.Ile45Val) rs1661264441
NM_001011.4(RPS7):c.142G>T (p.Ala48Ser)
NM_001011.4(RPS7):c.147+14C>A
NM_001011.4(RPS7):c.147+15C>T
NM_001011.4(RPS7):c.147+16C>T rs912491105
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001011.4(RPS7):c.147+5G>C
NM_001011.4(RPS7):c.147+6C>T rs760987417
NM_001011.4(RPS7):c.147+7T>C
NM_001011.4(RPS7):c.147+8G>A rs2147819351
NM_001011.4(RPS7):c.148-19T>A
NM_001011.4(RPS7):c.148-20A>C
NM_001011.4(RPS7):c.148-20A>G
NM_001011.4(RPS7):c.148-7_148-6delinsAA
NM_001011.4(RPS7):c.148-7del
NM_001011.4(RPS7):c.14G>A (p.Ser5Asn) rs2147819095
NM_001011.4(RPS7):c.156A>C (p.Glu52Asp) rs1178926489
NM_001011.4(RPS7):c.157G>A (p.Val53Ile) rs144178741
NM_001011.4(RPS7):c.169C>T (p.Arg57Trp) rs756780024
NM_001011.4(RPS7):c.177T>C (p.Ala59=)
NM_001011.4(RPS7):c.178A>G (p.Ile60Val)
NM_001011.4(RPS7):c.204A>G (p.Gln68=)
NM_001011.4(RPS7):c.216C>T (p.Phe72=) rs781328965
NM_001011.4(RPS7):c.230T>C (p.Val77Ala)
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
NM_001011.4(RPS7):c.238G>A (p.Val80Ile)
NM_001011.4(RPS7):c.24C>A (p.Ile8=)
NM_001011.4(RPS7):c.24C>T (p.Ile8=)
NM_001011.4(RPS7):c.261C>T (p.Phe87=)
NM_001011.4(RPS7):c.263G>T (p.Ser88Ile) rs2147819948
NM_001011.4(RPS7):c.273T>C (p.His91=) rs1442216854
NM_001011.4(RPS7):c.274GTC[1] (p.Val93del) rs1553342919
NM_001011.4(RPS7):c.276C>T (p.Val92=) rs61730448
NM_001011.4(RPS7):c.277G>A (p.Val93Ile) rs2147819964
NM_001011.4(RPS7):c.282T>A (p.Phe94Leu)
NM_001011.4(RPS7):c.291+19C>T
NM_001011.4(RPS7):c.292-7C>G
NM_001011.4(RPS7):c.292-8C>A
NM_001011.4(RPS7):c.292-8C>T rs373405472
NM_001011.4(RPS7):c.292-9A>T rs746941533
NM_001011.4(RPS7):c.311C>T (p.Pro104Leu) rs1405342101
NM_001011.4(RPS7):c.31C>T (p.Pro11Ser) rs1661256950
NM_001011.4(RPS7):c.333A>C (p.Lys111Asn)
NM_001011.4(RPS7):c.336T>C (p.Asn112=)
NM_001011.4(RPS7):c.34A>C (p.Asn12His) rs1661257045
NM_001011.4(RPS7):c.356+6T>C rs2147820884
NM_001011.4(RPS7):c.357-16dup
NM_001011.4(RPS7):c.357-20C>A
NM_001011.4(RPS7):c.357-3del rs140914434
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001011.4(RPS7):c.366G>A (p.Leu122=) rs2147822425
NM_001011.4(RPS7):c.392A>T (p.Glu131Val)
NM_001011.4(RPS7):c.396C>T (p.Asp132=)
NM_001011.4(RPS7):c.398T>C (p.Leu133Ser)
NM_001011.4(RPS7):c.405C>T (p.Phe135=)
NM_001011.4(RPS7):c.406C>G (p.Pro136Ala) rs1661370560
NM_001011.4(RPS7):c.411C>T (p.Ser137=)
NM_001011.4(RPS7):c.434G>A (p.Arg145His)
NM_001011.4(RPS7):c.444A>G (p.Leu148=)
NM_001011.4(RPS7):c.447T>C (p.Asp149=) rs2147822460
NM_001011.4(RPS7):c.450C>G (p.Gly150=)
NM_001011.4(RPS7):c.455G>C (p.Arg152Pro) rs1241543942
NM_001011.4(RPS7):c.471T>C (p.His157=)
NM_001011.4(RPS7):c.479A>G (p.Lys160Arg)
NM_001011.4(RPS7):c.486G>A (p.Gln162=)
NM_001011.4(RPS7):c.49G>C (p.Asp17His)
NM_001011.4(RPS7):c.508-10T>C
NM_001011.4(RPS7):c.508-12C>G rs2071639
NM_001011.4(RPS7):c.508-12_508-9del rs747706059
NM_001011.4(RPS7):c.508-16C>A
NM_001011.4(RPS7):c.508-3T>G rs1572360944
NM_001011.4(RPS7):c.508-9_508-5del
NM_001011.4(RPS7):c.508G>T (p.Val170Phe)
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) rs1558474062
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) rs1572360947
NM_001011.4(RPS7):c.519T>C (p.Phe173=) rs1572360947
NM_001011.4(RPS7):c.520T>G (p.Ser174Ala) rs1367450977
NM_001011.4(RPS7):c.521C>G (p.Ser174Cys) rs14742
NM_001011.4(RPS7):c.539T>A (p.Leu180His) rs1553343210
NM_001011.4(RPS7):c.542C>T (p.Thr181Met)
NM_001011.4(RPS7):c.545G>A (p.Gly182Asp)
NM_001011.4(RPS7):c.65_68del (p.Gly22fs)
NM_001011.4(RPS7):c.65_75+2delinsCTGG
NM_001011.4(RPS7):c.72C>T (p.Ser24=)
NM_001011.4(RPS7):c.75+1G>A rs1661257691
NM_001011.4(RPS7):c.75+1G>T
NM_001011.4(RPS7):c.75+8G>T
NM_001011.4(RPS7):c.76-12G>A
NM_001011.4(RPS7):c.76-12G>C rs2147819267
NM_001011.4(RPS7):c.76-13C>G
NM_001011.4(RPS7):c.76-13C>T
NM_001011.4(RPS7):c.76-16G>A rs767920442
NM_001011.4(RPS7):c.76-1G>T rs1057519624
NM_001011.4(RPS7):c.76-8C>G
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
NM_001011.4(RPS7):c.79C>T (p.Leu27Phe) rs758369264
NM_001011.4(RPS7):c.81T>A (p.Leu27=)
NM_001011.4(RPS7):c.82C>T (p.Leu28=)
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-38_-37del rs1581933797
NM_001014.5(RPS10):c.-9G>C rs899828117
NM_001014.5(RPS10):c.105G>A (p.Leu35=)
NM_001014.5(RPS10):c.106G>A (p.Ala36Thr)
NM_001014.5(RPS10):c.121C>A (p.Pro41Thr)
NM_001014.5(RPS10):c.134T>A (p.Val45Asp)
NM_001014.5(RPS10):c.136A>G (p.Met46Val)
NM_001014.5(RPS10):c.150+17G>A
NM_001014.5(RPS10):c.150+6_150+8del
NM_001014.5(RPS10):c.150+9del rs372641476
NM_001014.5(RPS10):c.151-17A>G
NM_001014.5(RPS10):c.151-19G>A
NM_001014.5(RPS10):c.151-20A>G
NM_001014.5(RPS10):c.151-4A>G
NM_001014.5(RPS10):c.164G>T (p.Arg55Leu)
NM_001014.5(RPS10):c.165A>C (p.Arg55=)
NM_001014.5(RPS10):c.168C>T (p.Gly56=) rs1765897705
NM_001014.5(RPS10):c.19A>T (p.Asn7Tyr)
NM_001014.5(RPS10):c.1A>G (p.Met1Val) rs2113806114
NM_001014.5(RPS10):c.201C>T (p.Phe67=) rs2113805419
NM_001014.5(RPS10):c.202T>C (p.Tyr68His)
NM_001014.5(RPS10):c.222G>A (p.Glu74=) rs1581931578
NM_001014.5(RPS10):c.222G>C (p.Glu74Asp)
NM_001014.5(RPS10):c.22C>T (p.Arg8Trp)
NM_001014.5(RPS10):c.260dup (p.Glu88fs) rs1581931541
NM_001014.5(RPS10):c.268_275del (p.Val90fs)
NM_001014.5(RPS10):c.26T>C (p.Ile9Thr)
NM_001014.5(RPS10):c.270G>A (p.Val90=)
NM_001014.5(RPS10):c.282_284dup (p.Arg96_Ser97insArg)
NM_001014.5(RPS10):c.285C>T (p.Arg95=)
NM_001014.5(RPS10):c.285_292del (p.Arg96fs) rs1581931439
NM_001014.5(RPS10):c.288T>G (p.Arg96=)
NM_001014.5(RPS10):c.289_294dup (p.Arg98_Pro99insSerArg)
NM_001014.5(RPS10):c.291C>G (p.Ser97Arg)
NM_001014.5(RPS10):c.291C>T (p.Ser97=)
NM_001014.5(RPS10):c.293G>A (p.Arg98His)
NM_001014.5(RPS10):c.294_314dup (p.Glu100_Pro106dup) rs1765891593
NM_001014.5(RPS10):c.297A>G (p.Pro99=) rs2113805269
NM_001014.5(RPS10):c.30C>A (p.Ala10=)
NM_001014.5(RPS10):c.313C>T (p.Arg105Trp)
NM_001014.5(RPS10):c.317C>T (p.Pro106Leu)
NM_001014.5(RPS10):c.322+13C>T
NM_001014.5(RPS10):c.322+15C>T
NM_001014.5(RPS10):c.322+17A>G
NM_001014.5(RPS10):c.322+2_322+4dup rs1554164160
NM_001014.5(RPS10):c.322+3A>G rs556255412
NM_001014.5(RPS10):c.323-18G>A
NM_001014.5(RPS10):c.323-19T>C rs1765779305
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.344C>T (p.Ala115Val)
NM_001014.5(RPS10):c.345G>A (p.Ala115=)
NM_001014.5(RPS10):c.34T>C (p.Tyr12His) rs2113806064
NM_001014.5(RPS10):c.354A>C (p.Thr118=)
NM_001014.5(RPS10):c.357A>G (p.Arg119=)
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322
NM_001014.5(RPS10):c.371G>A (p.Arg124Lys) rs757956413
NM_001014.5(RPS10):c.385C>T (p.Arg129Trp) rs752436029
NM_001014.5(RPS10):c.3G>A (p.Met1Ile) rs267607021
NM_001014.5(RPS10):c.400+13A>G
NM_001014.5(RPS10):c.400+19dup
NM_001014.5(RPS10):c.400+20A>G
NM_001014.5(RPS10):c.401-10dup
NM_001014.5(RPS10):c.401-11dup
NM_001014.5(RPS10):c.401-16A>T
NM_001014.5(RPS10):c.401-2A>G rs1765648528
NM_001014.5(RPS10):c.403G>T (p.Gly135Cys)
NM_001014.5(RPS10):c.408C>A (p.Ala136=) rs147566753
NM_001014.5(RPS10):c.409G>A (p.Asp137Asn)
NM_001014.5(RPS10):c.420C>T (p.Ala140=)
NM_001014.5(RPS10):c.456+3_456+6del rs1765647224
NM_001014.5(RPS10):c.457-6T>C rs2113793989
NM_001014.5(RPS10):c.457A>G (p.Arg153Gly)
NM_001014.5(RPS10):c.462C>T (p.Gly154=)
NM_001014.5(RPS10):c.463G>A (p.Gly155Arg)
NM_001014.5(RPS10):c.471T>A (p.Gly157=)
NM_001014.5(RPS10):c.473G>A (p.Arg158His)
NM_001014.5(RPS10):c.481G>T (p.Gly161Cys)
NM_001014.5(RPS10):c.493C>G (p.Gln165Glu)
NM_001014.5(RPS10):c.98C>T (p.Pro33Leu)
NM_001018113.1(FANCB):c.(?_-268)_(*160_?)del
NM_001018113.3(FANCB):c.-191-13C>T rs2147458807
NM_001018113.3(FANCB):c.-219G>T rs373175926
NM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg)
NM_001018113.3(FANCB):c.1009G>A (p.Gly337Arg) rs2147429068
NM_001018113.3(FANCB):c.1010G>A (p.Gly337Glu)
NM_001018113.3(FANCB):c.1021G>A (p.Val341Ile) rs2092436307
NM_001018113.3(FANCB):c.1062G>A (p.Leu354=)
NM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile)
NM_001018113.3(FANCB):c.1068A>G (p.Ser356=)
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1080G>A (p.Thr360=)
NM_001018113.3(FANCB):c.1080G>C (p.Thr360=) rs754983238
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter) rs143585647
NM_001018113.3(FANCB):c.1104+10A>G
NM_001018113.3(FANCB):c.1104+11T>C
NM_001018113.3(FANCB):c.1104+18A>C
NM_001018113.3(FANCB):c.1104+20T>G
NM_001018113.3(FANCB):c.1104+20_1104+22del
NM_001018113.3(FANCB):c.1104+4A>G rs1555906676
NM_001018113.3(FANCB):c.1104G>A (p.Ser368=)
NM_001018113.3(FANCB):c.1105-16T>A
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[5] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1105-4T>C rs2147425181
NM_001018113.3(FANCB):c.1105-5A>G
NM_001018113.3(FANCB):c.1105-7T>G
NM_001018113.3(FANCB):c.1105-9A>T
NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)
NM_001018113.3(FANCB):c.1110A>G (p.Glu370=)
NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) rs2147425036
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala) rs1569088991
NM_001018113.3(FANCB):c.1134C>T (p.Asp378=)
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)
NM_001018113.3(FANCB):c.1167G>T (p.Leu389=)
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
NM_001018113.3(FANCB):c.1182A>G (p.Leu394=)
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala)
NM_001018113.3(FANCB):c.1191A>G (p.Gly397=) rs2147424764
NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met)
NM_001018113.3(FANCB):c.1197+10T>C
NM_001018113.3(FANCB):c.1197+11G>A rs2147424729
NM_001018113.3(FANCB):c.1197+13_1197+15del rs2147424707
NM_001018113.3(FANCB):c.1197+19_1197+21del rs755825913
NM_001018113.3(FANCB):c.1197+8T>C
NM_001018113.3(FANCB):c.1198-3C>T
NM_001018113.3(FANCB):c.1212T>G (p.Ser404=)
NM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu)
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604
NM_001018113.3(FANCB):c.1234C>T (p.Leu412=)
NM_001018113.3(FANCB):c.123C>T (p.Pro41=)
NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu)
NM_001018113.3(FANCB):c.124A>G (p.Ile42Val) rs2147447859
NM_001018113.3(FANCB):c.1251A>G (p.Lys417=)
NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr)
NM_001018113.3(FANCB):c.1257T>C (p.Ile419=) rs1601989714
NM_001018113.3(FANCB):c.1269C>T (p.Tyr423=)
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile) rs1018343095
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser) rs1602006737
NM_001018113.3(FANCB):c.1300GAT[1] (p.Asp435del)
NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly)
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.131A>C (p.His44Pro) rs2092464968
NM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala) rs2092408275
NM_001018113.3(FANCB):c.1326+13A>G
NM_001018113.3(FANCB):c.1326+13_1326+14del
NM_001018113.3(FANCB):c.1326+16T>C rs747443650
NM_001018113.3(FANCB):c.1326+18A>G
NM_001018113.3(FANCB):c.1326+7G>C
NM_001018113.3(FANCB):c.1326+7del
NM_001018113.3(FANCB):c.1327-10T>A
NM_001018113.3(FANCB):c.1327-12dup rs202067682
NM_001018113.3(FANCB):c.1327-17T>G
NM_001018113.3(FANCB):c.1327-19_1327-16del rs766440560
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser) rs867778700
NM_001018113.3(FANCB):c.1369G>A (p.Val457Ile)
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr) rs1601985554
NM_001018113.3(FANCB):c.1373A>G (p.His458Arg)
NM_001018113.3(FANCB):c.1383T>C (p.Asp461=) rs2147405012
NM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr)
NM_001018113.3(FANCB):c.1406A>T (p.Gln469Leu)
NM_001018113.3(FANCB):c.1407A>G (p.Gln469=) rs2092396901
NM_001018113.3(FANCB):c.1428G>A (p.Glu476=)
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter) rs2147404831
NM_001018113.3(FANCB):c.1440T>C (p.Tyr480=)
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg) rs2092396657
NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala) rs1601985311
NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys) rs993307430
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe) rs993307430
NM_001018113.3(FANCB):c.1496+10T>C
NM_001018113.3(FANCB):c.1496+14A>G
NM_001018113.3(FANCB):c.1496+16C>A
NM_001018113.3(FANCB):c.1496+18dup
NM_001018113.3(FANCB):c.1496+19_1496+21del
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1496+8A>T
NM_001018113.3(FANCB):c.1497-12G>T
NM_001018113.3(FANCB):c.1497-18del
NM_001018113.3(FANCB):c.1497-20A>G
NM_001018113.3(FANCB):c.1497G>T (p.Leu499=)
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)
NM_001018113.3(FANCB):c.1501C>G (p.Leu501Val) rs2147391420
NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)
NM_001018113.3(FANCB):c.1521A>G (p.Ser507=)
NM_001018113.3(FANCB):c.1521A>T (p.Ser507=)
NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu)
NM_001018113.3(FANCB):c.153C>T (p.Asp51=)
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg) rs1555904475
NM_001018113.3(FANCB):c.1542T>C (p.His514=)
NM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly)
NM_001018113.3(FANCB):c.1563A>G (p.Leu521=)
NM_001018113.3(FANCB):c.1566G>A (p.Lys522=) rs2092371545
NM_001018113.3(FANCB):c.1569T>C (p.Cys523=)
NM_001018113.3(FANCB):c.1578G>T (p.Arg526Ser)
NM_001018113.3(FANCB):c.1579G>A (p.Val527Met)
NM_001018113.3(FANCB):c.1581G>T (p.Val527=)
NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr)
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu) rs1555904458
NM_001018113.3(FANCB):c.1611A>G (p.Ala537=)
NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg) rs2147391147
NM_001018113.3(FANCB):c.1614A>G (p.Pro538=)
NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) rs2147391126
NM_001018113.3(FANCB):c.1617C>T (p.Tyr539=)
NM_001018113.3(FANCB):c.1620G>A (p.Leu540=)
NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser) rs868761818
NM_001018113.3(FANCB):c.1626A>G (p.Pro542=) rs1277532078
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) rs2092370985
NM_001018113.3(FANCB):c.1654G>T (p.Val552Phe)
NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala) rs1569083698
NM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile) rs2092370867
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1683G>A (p.Glu561=)
NM_001018113.3(FANCB):c.1694T>C (p.Val565Ala)
NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr) rs5935815
NM_001018113.3(FANCB):c.1701A>G (p.Glu567=)
NM_001018113.3(FANCB):c.1703A>C (p.His568Pro) rs2092370560
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) rs1555904427
NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro)
NM_001018113.3(FANCB):c.171T>C (p.Phe57=)
NM_001018113.3(FANCB):c.1725A>G (p.Val575=)
NM_001018113.3(FANCB):c.1726C>G (p.Gln576Glu)
NM_001018113.3(FANCB):c.1727A>G (p.Gln576Arg)
NM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu)
NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val)
NM_001018113.3(FANCB):c.1765A>G (p.Thr589Ala)
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.177G>A (p.Gln59=) rs1602006672
NM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn)
NM_001018113.3(FANCB):c.1788T>C (p.Thr596=)
NM_001018113.3(FANCB):c.1800A>G (p.Gln600=) rs2147390430
NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs) rs1601977912
NM_001018113.3(FANCB):c.1818T>C (p.Ser606=)
NM_001018113.3(FANCB):c.1819G>A (p.Gly607Ser)
NM_001018113.3(FANCB):c.1826G>A (p.Cys609Tyr)
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) rs144764663
NM_001018113.3(FANCB):c.1840T>C (p.Tyr614His)
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) rs1601977844
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.1858G>A (p.Val620Ile) rs2092369531
NM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser)
NM_001018113.3(FANCB):c.1872A>C (p.Leu624=)
NM_001018113.3(FANCB):c.1887T>G (p.Thr629=)
NM_001018113.3(FANCB):c.1896C>T (p.Tyr632=)
NM_001018113.3(FANCB):c.1927+13G>C
NM_001018113.3(FANCB):c.1927+16C>T
NM_001018113.3(FANCB):c.1927+8T>A
NM_001018113.3(FANCB):c.1927+9del
NM_001018113.3(FANCB):c.1928-5del
NM_001018113.3(FANCB):c.1928-5dup
NM_001018113.3(FANCB):c.1928-6_1928-5del
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) rs2092368698
NM_001018113.3(FANCB):c.192T>C (p.Phe64=)
NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)
NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)
NM_001018113.3(FANCB):c.1950A>G (p.Ala650=)
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) rs1602006627
NM_001018113.3(FANCB):c.1970A>G (p.Lys657Arg) rs2092368529
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
NM_001018113.3(FANCB):c.1992A>T (p.Ser664=) rs2147389619
NM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser)
NM_001018113.3(FANCB):c.2020G>A (p.Val674Met)
NM_001018113.3(FANCB):c.2020G>C (p.Val674Leu) rs2092368233
NM_001018113.3(FANCB):c.2021T>C (p.Val674Ala)
NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro) rs1601977531
NM_001018113.3(FANCB):c.2035C>T (p.His679Tyr)
NM_001018113.3(FANCB):c.203A>G (p.Lys68Arg) rs2147447567
NM_001018113.3(FANCB):c.2047G>A (p.Glu683Lys) rs2147389460
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
NM_001018113.3(FANCB):c.2055C>G (p.Ile685Met)
NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter) rs1601977510
NM_001018113.3(FANCB):c.207A>G (p.Glu69=)
NM_001018113.3(FANCB):c.2091G>A (p.Pro697=)
NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala)
NM_001018113.3(FANCB):c.2100C>T (p.Phe700=)
NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser) rs2092367669
NM_001018113.3(FANCB):c.2109A>G (p.Thr703=) rs1555904303
NM_001018113.3(FANCB):c.2112C>T (p.Leu704=)
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu) rs1060501875
NM_001018113.3(FANCB):c.2136A>G (p.Pro712=)
NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu)
NM_001018113.3(FANCB):c.2139C>T (p.Phe713=)
NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys) rs868748586
NM_001018113.3(FANCB):c.2142A>G (p.Glu714=) rs2147389159
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met) rs2092367373
NM_001018113.3(FANCB):c.2165+12T>G
NM_001018113.3(FANCB):c.2165+18G>A
NM_001018113.3(FANCB):c.2165+18G>T
NM_001018113.3(FANCB):c.2165+1G>T rs1601977379
NM_001018113.3(FANCB):c.2165+2T>G rs2147389062
NM_001018113.3(FANCB):c.2165+6G>A
NM_001018113.3(FANCB):c.2165G>T (p.Arg722Met)
NM_001018113.3(FANCB):c.2166-14T>C
NM_001018113.3(FANCB):c.2166-15_2166-12del
NM_001018113.3(FANCB):c.2166-8del
NM_001018113.3(FANCB):c.2166-9T>C rs2147387583
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser) rs1300715683
NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs) rs1601976655
NM_001018113.3(FANCB):c.2190C>T (p.Cys730=)
NM_001018113.3(FANCB):c.2193T>G (p.Leu731=) rs2147387445
NM_001018113.3(FANCB):c.2195A>G (p.His732Arg)
NM_001018113.3(FANCB):c.2201TCA[1] (p.Ile735del)
NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly)
NM_001018113.3(FANCB):c.2214C>A (p.Leu738=)
NM_001018113.3(FANCB):c.2214C>G (p.Leu738=)
NM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr)
NM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile)
NM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys)
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) rs2092364017
NM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr)
NM_001018113.3(FANCB):c.2229C>T (p.Phe743=)
NM_001018113.3(FANCB):c.2238T>C (p.Asn746=)
NM_001018113.3(FANCB):c.2241A>C (p.Leu747=) rs2147387279
NM_001018113.3(FANCB):c.2244A>G (p.Lys748=)
NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs) rs1601976527
NM_001018113.3(FANCB):c.2271T>C (p.Asp757=)
NM_001018113.3(FANCB):c.2275A>G (p.Met759Val)
NM_001018113.3(FANCB):c.2276T>C (p.Met759Thr)
NM_001018113.3(FANCB):c.2280A>T (p.Ala760=)
NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala)
NM_001018113.3(FANCB):c.2299C>T (p.Leu767=)
NM_001018113.3(FANCB):c.229A>G (p.Met77Val)
NM_001018113.3(FANCB):c.2301A>G (p.Leu767=)
NM_001018113.3(FANCB):c.2322T>G (p.Ser774=)
NM_001018113.3(FANCB):c.2328C>T (p.Ala776=)
NM_001018113.3(FANCB):c.2329A>G (p.Ile777Val) rs776505971
NM_001018113.3(FANCB):c.2330T>C (p.Ile777Thr)
NM_001018113.3(FANCB):c.2331A>G (p.Ile777Met) rs1326031344
NM_001018113.3(FANCB):c.2340T>C (p.His780=)
NM_001018113.3(FANCB):c.2353A>G (p.Met785Val)
NM_001018113.3(FANCB):c.2359A>C (p.Arg787=)
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001018113.3(FANCB):c.2361G>A (p.Arg787=)
NM_001018113.3(FANCB):c.2370G>A (p.Val790=)
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly) rs2147386876
NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) rs2092363086
NM_001018113.3(FANCB):c.2391C>G (p.Val797=) rs778731279
NM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr)
NM_001018113.3(FANCB):c.2397G>A (p.Ala799=)
NM_001018113.3(FANCB):c.23C>T (p.Ser8Leu)
NM_001018113.3(FANCB):c.2404T>C (p.Leu802=)
NM_001018113.3(FANCB):c.2406A>G (p.Leu802=)
NM_001018113.3(FANCB):c.2415A>G (p.Arg805=)
NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr) rs2147386628
NM_001018113.3(FANCB):c.2433C>G (p.Pro811=) rs2147386620
NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser) rs748392793
NM_001018113.3(FANCB):c.2439A>G (p.Arg813=)
NM_001018113.3(FANCB):c.245T>C (p.Val82Ala) rs2147447420
NM_001018113.3(FANCB):c.2467A>G (p.Met823Val)
NM_001018113.3(FANCB):c.2470T>G (p.Leu824Val) rs1601976122
NM_001018113.3(FANCB):c.2477C>A (p.Thr826Lys) rs201436396
NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu)
NM_001018113.3(FANCB):c.2496T>A (p.Gly832=)
NM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys)
NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala)
NM_001018113.3(FANCB):c.2520G>A (p.Leu840=)
NM_001018113.3(FANCB):c.2526A>T (p.Val842=)
NM_001018113.3(FANCB):c.2539T>C (p.Leu847=)
NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu) rs759020755
NM_001018113.3(FANCB):c.2556T>C (p.Ala852=)
NM_001018113.3(FANCB):c.2562G>A (p.Gln854=)
NM_001018113.3(FANCB):c.2565A>G (p.Lys855=)
NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) rs2147386189
NM_001018113.3(FANCB):c.2575T>C (p.Leu859=)
NM_001018113.3(FANCB):c.2577A>G (p.Leu859=)
NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)
NM_001018113.3(FANCB):c.273C>T (p.Leu91=)
NM_001018113.3(FANCB):c.291A>G (p.Glu97=)
NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu) rs2092464184
NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg)
NM_001018113.3(FANCB):c.300A>G (p.Lys100=)
NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) rs2147447239
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.30C>T (p.Asn10=)
NM_001018113.3(FANCB):c.331A>G (p.Ile111Val)
NM_001018113.3(FANCB):c.339C>T (p.His113=)
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.360G>A (p.Met120Ile)
NM_001018113.3(FANCB):c.372T>C (p.Phe124=)
NM_001018113.3(FANCB):c.376C>T (p.Leu126=) rs1602006225
NM_001018113.3(FANCB):c.378A>G (p.Leu126=)
NM_001018113.3(FANCB):c.381C>T (p.Gly127=)
NM_001018113.3(FANCB):c.388A>T (p.Met130Leu)
NM_001018113.3(FANCB):c.408C>T (p.Val136=)
NM_001018113.3(FANCB):c.417C>A (p.Gly139=)
NM_001018113.3(FANCB):c.417C>G (p.Gly139=)
NM_001018113.3(FANCB):c.419C>T (p.Pro140Leu)
NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys)
NM_001018113.3(FANCB):c.41G>C (p.Arg14Thr)
NM_001018113.3(FANCB):c.434G>C (p.Arg145Thr)
NM_001018113.3(FANCB):c.439G>A (p.Val147Ile)
NM_001018113.3(FANCB):c.445G>A (p.Ala149Thr)
NM_001018113.3(FANCB):c.447A>G (p.Ala149=)
NM_001018113.3(FANCB):c.447A>T (p.Ala149=)
NM_001018113.3(FANCB):c.454T>C (p.Phe152Leu) rs2092463362
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)
NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)
NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)
NM_001018113.3(FANCB):c.468A>G (p.Gln156=)
NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala)
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) rs1569092592
NM_001018113.3(FANCB):c.480T>A (p.Val160=)
NM_001018113.3(FANCB):c.483T>C (p.Val161=)
NM_001018113.3(FANCB):c.484A>C (p.Ser162Arg) rs2147446679
NM_001018113.3(FANCB):c.490T>C (p.Ser164Pro)
NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp)
NM_001018113.3(FANCB):c.49T>C (p.Cys17Arg)
NM_001018113.3(FANCB):c.501T>C (p.Phe167=)
NM_001018113.3(FANCB):c.506C>T (p.Ser169Phe)
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val) rs138251388
NM_001018113.3(FANCB):c.53A>T (p.Tyr18Phe)
NM_001018113.3(FANCB):c.554G>T (p.Gly185Val)
NM_001018113.3(FANCB):c.560A>G (p.Lys187Arg)
NM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr) rs2147446437
NM_001018113.3(FANCB):c.591T>G (p.Thr197=)
NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) rs2092462570
NM_001018113.3(FANCB):c.603A>C (p.Ser201=)
NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)
NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala)
NM_001018113.3(FANCB):c.615T>C (p.Tyr205=)
NM_001018113.3(FANCB):c.628A>G (p.Thr210Ala) rs2092462421
NM_001018113.3(FANCB):c.634T>C (p.Phe212Leu) rs2147446219
NM_001018113.3(FANCB):c.647C>G (p.Ser216Cys)
NM_001018113.3(FANCB):c.64G>A (p.Val22Ile)
NM_001018113.3(FANCB):c.659A>G (p.Gln220Arg)
NM_001018113.3(FANCB):c.664G>A (p.Val222Ile) rs2147446099
NM_001018113.3(FANCB):c.666A>G (p.Val222=)
NM_001018113.3(FANCB):c.681C>T (p.Tyr227=)
NM_001018113.3(FANCB):c.699C>T (p.Tyr233=)
NM_001018113.3(FANCB):c.702C>T (p.Ser234=)
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018113.3(FANCB):c.708G>A (p.Val236=) rs2147445876
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe) rs1555907444
NM_001018113.3(FANCB):c.720A>G (p.Val240=)
NM_001018113.3(FANCB):c.722A>G (p.His241Arg) rs2147445804
NM_001018113.3(FANCB):c.735T>C (p.Thr245=)
NM_001018113.3(FANCB):c.744C>A (p.Ile248=)
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs) rs1602005463
NM_001018113.3(FANCB):c.773C>T (p.Ala258Val)
NM_001018113.3(FANCB):c.774C>G (p.Ala258=) rs1168908937
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)
NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly)
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) rs2147445599
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.795G>A (p.Leu265=)
NM_001018113.3(FANCB):c.795G>T (p.Leu265=)
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) rs2092461325
NM_001018113.3(FANCB):c.829dup (p.Cys277fs) rs1602005335
NM_001018113.3(FANCB):c.834G>C (p.Gln278His) rs1569092087
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
NM_001018113.3(FANCB):c.852T>C (p.Pro284=)
NM_001018113.3(FANCB):c.864A>G (p.Gln288=)
NM_001018113.3(FANCB):c.876A>G (p.Ser292=)
NM_001018113.3(FANCB):c.885A>G (p.Gly295=) rs1477082234
NM_001018113.3(FANCB):c.898G>A (p.Val300Ile)
NM_001018113.3(FANCB):c.906C>T (p.Ser302=)
NM_001018113.3(FANCB):c.93T>C (p.Asn31=)
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter) rs1602005062
NM_001018113.3(FANCB):c.951+13T>C
NM_001018113.3(FANCB):c.951+19T>C
NM_001018113.3(FANCB):c.951+7C>T
NM_001018113.3(FANCB):c.951G>T (p.Gln317His)
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018113.3(FANCB):c.952-14T>C
NM_001018113.3(FANCB):c.952-16G>A
NM_001018113.3(FANCB):c.952-19A>G
NM_001018113.3(FANCB):c.970A>C (p.Lys324Gln)
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn) rs1456143136
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr)
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro) rs1161918267
NM_001018113.3(FANCB):c.987G>C (p.Leu329=)
NM_001018113.3(FANCB):c.990A>T (p.Ile330=) rs2147429139
NM_001018115.1:c.1414_1545del
NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)
NM_001018115.3(FANCD2):c.1009A>T (p.Ser337Cys)
NM_001018115.3(FANCD2):c.100A>G (p.Lys34Glu) rs1394658178
NM_001018115.3(FANCD2):c.1016G>A (p.Gly339Asp) rs1575749612
NM_001018115.3(FANCD2):c.1018C>G (p.Gln340Glu)
NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)
NM_001018115.3(FANCD2):c.1019A>G (p.Gln340Arg)
NM_001018115.3(FANCD2):c.1020G>A (p.Gln340=)
NM_001018115.3(FANCD2):c.1033CTC[1] (p.Leu346del) rs1158786668
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro) rs773847165
NM_001018115.3(FANCD2):c.1044T>C (p.Asp348=)
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
NM_001018115.3(FANCD2):c.1053G>A (p.Lys351=)
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001018115.3(FANCD2):c.1078del (p.Ile360fs)
NM_001018115.3(FANCD2):c.107A>G (p.His36Arg) rs2124970667
NM_001018115.3(FANCD2):c.1088C>G (p.Ala363Gly)
NM_001018115.3(FANCD2):c.1091G>C (p.Trp364Ser) rs2086921184
NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter) rs2086921262
NM_001018115.3(FANCD2):c.1098+16C>G
NM_001018115.3(FANCD2):c.1098+16C>T
NM_001018115.3(FANCD2):c.1098+17T>A
NM_001018115.3(FANCD2):c.1098+19T>C
NM_001018115.3(FANCD2):c.1098+20_1098+23del
NM_001018115.3(FANCD2):c.1098+27A>G rs189978498
NM_001018115.3(FANCD2):c.1098+2T>A
NM_001018115.3(FANCD2):c.1098+4A>G rs664233
NM_001018115.3(FANCD2):c.1099-6T>G rs759324309
NM_001018115.3(FANCD2):c.1102_1103insCC (p.Ile368fs)
NM_001018115.3(FANCD2):c.1116del (p.Ser373fs)
NM_001018115.3(FANCD2):c.111T>C (p.Ile37=)
NM_001018115.3(FANCD2):c.1128A>G (p.Glu376=)
NM_001018115.3(FANCD2):c.1134+10A>C
NM_001018115.3(FANCD2):c.1134+1G>A
NM_001018115.3(FANCD2):c.1135-1G>C
NM_001018115.3(FANCD2):c.1135-25G>A rs201770712
NM_001018115.3(FANCD2):c.1135-6C>A rs2087017963
NM_001018115.3(FANCD2):c.1136T>C (p.Val379Ala) rs1006403887
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1178C>G (p.Thr393Ser) rs765339192
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.1181dup (p.Thr395fs) rs2125000228
NM_001018115.3(FANCD2):c.1185A>G (p.Thr395=) rs2125000243
NM_001018115.3(FANCD2):c.118G>A (p.Glu40Lys) rs2086637443
NM_001018115.3(FANCD2):c.1200C>T (p.Asp400=) rs755295382
NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer) rs2125000318
NM_001018115.3(FANCD2):c.1201del (p.Arg401fs) rs1553608812
NM_001018115.3(FANCD2):c.1207C>G (p.Leu403Val) rs753223864
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln) rs370522983
NM_001018115.3(FANCD2):c.1223G>T (p.Arg408Leu)
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe) rs886057663
NM_001018115.3(FANCD2):c.1248G>T (p.Leu416=) rs1365912085
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.125A>G (p.Glu42Gly)
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1278+15C>T rs144167368
NM_001018115.3(FANCD2):c.1278+2dup rs1553608861
NM_001018115.3(FANCD2):c.1278+3_1278+5del rs375350046
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001018115.3(FANCD2):c.1279-1G>A rs1294791314
NM_001018115.3(FANCD2):c.1279-2A>C
NM_001018115.3(FANCD2):c.1279-3A>T rs1354341272
NM_001018115.3(FANCD2):c.1279G>A (p.Val427Ile) rs529893298
NM_001018115.3(FANCD2):c.1311G>T (p.Ser437=) rs564577177
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs) rs2087073639
NM_001018115.3(FANCD2):c.1335T>C (p.Ser445=) rs1575759741
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly) rs2087075324
NM_001018115.3(FANCD2):c.1349T>C (p.Ile450Thr) rs549790164
NM_001018115.3(FANCD2):c.1349T>G (p.Ile450Arg) rs549790164
NM_001018115.3(FANCD2):c.1383A>G (p.Ala461=) rs1324641371
NM_001018115.3(FANCD2):c.139A>G (p.Ile47Val)
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
NM_001018115.3(FANCD2):c.1413+14T>C rs12330599
NM_001018115.3(FANCD2):c.1413+2T>A rs1459222478
NM_001018115.3(FANCD2):c.1413+2T>C rs1459222478
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.1413+8G>A rs2087079196
NM_001018115.3(FANCD2):c.1414-69_1545+258del rs2087125303
NM_001018115.3(FANCD2):c.1414-9C>T rs35557429
NM_001018115.3(FANCD2):c.1419G>T (p.Val473=) rs140350157
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val) rs2087129096
NM_001018115.3(FANCD2):c.1447A>C (p.Ser483Arg) rs2087129366
NM_001018115.3(FANCD2):c.144T>C (p.Phe48=) rs750534583
NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly) rs780343756
NM_001018115.3(FANCD2):c.1470T>C (p.Asp490=) rs567183176
NM_001018115.3(FANCD2):c.1487T>G (p.Leu496Arg) rs2125006396
NM_001018115.3(FANCD2):c.150G>A (p.Lys50=)
NM_001018115.3(FANCD2):c.1545+1G>T
NM_001018115.3(FANCD2):c.1546-1G>A
NM_001018115.3(FANCD2):c.1546-6C>T
NM_001018115.3(FANCD2):c.1547G>T (p.Gly516Val)
NM_001018115.3(FANCD2):c.1549A>G (p.Ile517Val) rs2087243822
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr) rs1221998060
NM_001018115.3(FANCD2):c.1555G>A (p.Asp519Asn) rs780491203
NM_001018115.3(FANCD2):c.1555G>C (p.Asp519His)
NM_001018115.3(FANCD2):c.1557T>G (p.Asp519Glu)
NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs)
NM_001018115.3(FANCD2):c.1573T>G (p.Ser525Ala)
NM_001018115.3(FANCD2):c.1576C>T (p.Pro526Ser)
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
NM_001018115.3(FANCD2):c.1577dup (p.Gln527fs)
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
NM_001018115.3(FANCD2):c.1596C>A (p.Leu532=)
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=) rs2087245604
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe) rs143701205
NM_001018115.3(FANCD2):c.1604T>C (p.Val535Ala) rs2125011965
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1615C>A (p.Leu539Met)
NM_001018115.3(FANCD2):c.1618G>T (p.Ala540Ser) rs765324038
NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)
NM_001018115.3(FANCD2):c.1626C>T (p.Ser542=)
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
NM_001018115.3(FANCD2):c.1650C>G (p.His550Gln)
NM_001018115.3(FANCD2):c.1653C>T (p.Ile551=)
NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)
NM_001018115.3(FANCD2):c.1656+10A>C rs2087247708
NM_001018115.3(FANCD2):c.1656+1G>A
NM_001018115.3(FANCD2):c.1656+7G>A
NM_001018115.3(FANCD2):c.1657-12A>T
NM_001018115.3(FANCD2):c.1657-12_1657-10del
NM_001018115.3(FANCD2):c.1657-16C>G rs1335826866
NM_001018115.3(FANCD2):c.1657-18T>G
NM_001018115.3(FANCD2):c.1657-5T>G rs2125026589
NM_001018115.3(FANCD2):c.1659T>C (p.Asp553=)
NM_001018115.3(FANCD2):c.1663A>G (p.Met555Val)
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg) rs1232065920
NM_001018115.3(FANCD2):c.1668C>T (p.His556=) rs2125026611
NM_001018115.3(FANCD2):c.1678A>C (p.Arg560=)
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
NM_001018115.3(FANCD2):c.1689C>G (p.Leu563=)
NM_001018115.3(FANCD2):c.1689C>T (p.Leu563=) rs1281020807
NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)
NM_001018115.3(FANCD2):c.1692T>C (p.Ser564=)
NM_001018115.3(FANCD2):c.1717A>G (p.Ile573Val)
NM_001018115.3(FANCD2):c.1727T>C (p.Ile576Thr)
NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)
NM_001018115.3(FANCD2):c.1732G>A (p.Ala578Thr) rs2087530880
NM_001018115.3(FANCD2):c.1734T>C (p.Ala578=)
NM_001018115.3(FANCD2):c.174T>A (p.Ile58=)
NM_001018115.3(FANCD2):c.1753A>G (p.Met585Val)
NM_001018115.3(FANCD2):c.1759G>A (p.Ala587Thr) rs1553610798
NM_001018115.3(FANCD2):c.1766+13A>G
NM_001018115.3(FANCD2):c.1766+15T>G
NM_001018115.3(FANCD2):c.1766+17T>C
NM_001018115.3(FANCD2):c.1766+19A>G
NM_001018115.3(FANCD2):c.1766+1G>A
NM_001018115.3(FANCD2):c.1766+4C>G
NM_001018115.3(FANCD2):c.1766+4C>T
NM_001018115.3(FANCD2):c.1766+7G>T
NM_001018115.3(FANCD2):c.1767-10T>C
NM_001018115.3(FANCD2):c.1788C>G (p.Thr596=)
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
NM_001018115.3(FANCD2):c.1794G>A (p.Glu598=)
NM_001018115.3(FANCD2):c.1796G>A (p.Arg599Lys) rs1575787379
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile) rs955122662
NM_001018115.3(FANCD2):c.1807A>C (p.Ser603Arg)
NM_001018115.3(FANCD2):c.1809C>T (p.Ser603=)
NM_001018115.3(FANCD2):c.180A>G (p.Lys60=)
NM_001018115.3(FANCD2):c.1815G>A (p.Glu605=)
NM_001018115.3(FANCD2):c.1821C>T (p.Cys607=) rs2087590153
NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter) rs1247410343
NM_001018115.3(FANCD2):c.1827+15del
NM_001018115.3(FANCD2):c.1827+15dup
NM_001018115.3(FANCD2):c.1827+1G>C rs761074497
NM_001018115.3(FANCD2):c.1828-11C>T
NM_001018115.3(FANCD2):c.1828-12T>G
NM_001018115.3(FANCD2):c.1828-18T>C
NM_001018115.3(FANCD2):c.1828-20A>C
NM_001018115.3(FANCD2):c.1837T>C (p.Leu613=) rs2125032558
NM_001018115.3(FANCD2):c.1837TTG[3] (p.Leu614_Gln615insLeu)
NM_001018115.3(FANCD2):c.1839G>A (p.Leu613=)
NM_001018115.3(FANCD2):c.183G>T (p.Thr61=) rs771445756
NM_001018115.3(FANCD2):c.1854T>C (p.His618=)
NM_001018115.3(FANCD2):c.1863T>C (p.Ser621=)
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
NM_001018115.3(FANCD2):c.1866G>A (p.Glu622=)
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)
NM_001018115.3(FANCD2):c.186A>G (p.Gly62=)
NM_001018115.3(FANCD2):c.1874C>T (p.Pro625Leu) rs886057690
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
NM_001018115.3(FANCD2):c.187G>A (p.Glu63Lys)
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.1910A>G (p.Asn637Ser)
NM_001018115.3(FANCD2):c.1916del (p.Ile639fs)
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_001018115.3(FANCD2):c.1917C>T (p.Ile639=)
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg) rs750353000
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs) rs1221526082
NM_001018115.3(FANCD2):c.1938A>G (p.Pro646=)
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
NM_001018115.3(FANCD2):c.1945C>T (p.Leu649=)
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
NM_001018115.3(FANCD2):c.1947+14T>G
NM_001018115.3(FANCD2):c.1947+1G>A
NM_001018115.3(FANCD2):c.1947+3A>G
NM_001018115.3(FANCD2):c.1947+6G>A
NM_001018115.3(FANCD2):c.1947+7C>T
NM_001018115.3(FANCD2):c.1947+9A>G
NM_001018115.3(FANCD2):c.1947G>A (p.Leu649=) rs753041155
NM_001018115.3(FANCD2):c.1947G>C (p.Leu649=) rs753041155
NM_001018115.3(FANCD2):c.1948-15G>C
NM_001018115.3(FANCD2):c.1948-16T>G rs2087653225
NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile) rs1381447946
NM_001018115.3(FANCD2):c.1954G>C (p.Val652Leu) rs1381447946
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
NM_001018115.3(FANCD2):c.1965C>G (p.Thr655=)
NM_001018115.3(FANCD2):c.1989C>G (p.Ala663=) rs2087655199
NM_001018115.3(FANCD2):c.1996G>A (p.Val666Met)
NM_001018115.3(FANCD2):c.19C>T (p.Leu7=)
NM_001018115.3(FANCD2):c.2001C>T (p.Asp667=)
NM_001018115.3(FANCD2):c.2003C>T (p.Ser668Phe)
NM_001018115.3(FANCD2):c.2006G>C (p.Cys669Ser)
NM_001018115.3(FANCD2):c.2014C>A (p.Pro672Thr)
NM_001018115.3(FANCD2):c.2015C>T (p.Pro672Leu) rs754258198
NM_001018115.3(FANCD2):c.2019A>T (p.Glu673Asp) rs2125034174
NM_001018115.3(FANCD2):c.2020G>A (p.Gly674Ser)
NM_001018115.3(FANCD2):c.2021+15C>T rs2125034247
NM_001018115.3(FANCD2):c.2021+5G>A rs1243372102
NM_001018115.3(FANCD2):c.2022-4G>T rs748941966
NM_001018115.3(FANCD2):c.2022-5C>A
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2022-6C>T rs2125034948
NM_001018115.3(FANCD2):c.2023G>C (p.Asp675His)
NM_001018115.3(FANCD2):c.2025C>T (p.Asp675=)
NM_001018115.3(FANCD2):c.2028T>C (p.Phe676=)
NM_001018115.3(FANCD2):c.202C>T (p.Leu68=)
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu) rs2087667280
NM_001018115.3(FANCD2):c.2048T>G (p.Leu683Arg)
NM_001018115.3(FANCD2):c.2049G>A (p.Leu683=) rs768608195
NM_001018115.3(FANCD2):c.205+16A>G
NM_001018115.3(FANCD2):c.205+1G>A rs2124970985
NM_001018115.3(FANCD2):c.205+4_205+6del
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
NM_001018115.3(FANCD2):c.2052C>T (p.Tyr684=) rs776906387
NM_001018115.3(FANCD2):c.2055A>C (p.Gly685=) rs2125035070
NM_001018115.3(FANCD2):c.2057T>C (p.Leu686Pro)
NM_001018115.3(FANCD2):c.206-14T>C
NM_001018115.3(FANCD2):c.206-15C>T
NM_001018115.3(FANCD2):c.206-18C>G
NM_001018115.3(FANCD2):c.206-1G>T rs2124974541
NM_001018115.3(FANCD2):c.206-2A>T rs771573600
NM_001018115.3(FANCD2):c.206-4A>G
NM_001018115.3(FANCD2):c.206-5C>T
NM_001018115.3(FANCD2):c.206-6G>A rs1386251857
NM_001018115.3(FANCD2):c.206-9T>C
NM_001018115.3(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_001018115.3(FANCD2):c.2077G>T (p.Asp693Tyr) rs2125035150
NM_001018115.3(FANCD2):c.2082G>T (p.Gly694=) rs1575792797
NM_001018115.3(FANCD2):c.2083A>C (p.Ile695Leu) rs2125035169
NM_001018115.3(FANCD2):c.2087C>T (p.Ala696Val) rs2087669561
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_001018115.3(FANCD2):c.2097C>A (p.Leu699=)
NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)
NM_001018115.3(FANCD2):c.2103G>A (p.Pro701=) rs139033444
NM_001018115.3(FANCD2):c.2103G>T (p.Pro701=) rs139033444
NM_001018115.3(FANCD2):c.2109_2110insGAGGT (p.Phe704fs)
NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)
NM_001018115.3(FANCD2):c.2121C>T (p.Asp707=)
NM_001018115.3(FANCD2):c.2133T>C (p.Asp711=) rs2125035366
NM_001018115.3(FANCD2):c.2135G>A (p.Gly712Glu)
NM_001018115.3(FANCD2):c.2136G>A (p.Gly712=)
NM_001018115.3(FANCD2):c.2136G>C (p.Gly712=)
NM_001018115.3(FANCD2):c.2138del (p.Gly713fs)
NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)
NM_001018115.3(FANCD2):c.2148C>T (p.Thr716=)
NM_001018115.3(FANCD2):c.2151A>G (p.Ser717=)
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
NM_001018115.3(FANCD2):c.2153A>T (p.Gln718Leu)
NM_001018115.3(FANCD2):c.2158dup (p.Ser720fs)
NM_001018115.3(FANCD2):c.2160del (p.Gly721fs) rs2125035511
NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)
NM_001018115.3(FANCD2):c.2168+5G>C rs1237529867
NM_001018115.3(FANCD2):c.2168+9A>T
NM_001018115.3(FANCD2):c.2168+9del rs1364300331
NM_001018115.3(FANCD2):c.2168_2168+1delinsT rs2087674573
NM_001018115.3(FANCD2):c.2169-15A>G
NM_001018115.3(FANCD2):c.2169-17T>A
NM_001018115.3(FANCD2):c.2169-19A>T
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.2169-6_2169-4del
NM_001018115.3(FANCD2):c.2169-9C>T
NM_001018115.3(FANCD2):c.216A>G (p.Gln72=)
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr) rs1168778380
NM_001018115.3(FANCD2):c.2178T>C (p.Ser726=) rs761465333
NM_001018115.3(FANCD2):c.2188C>T (p.Leu730=)
NM_001018115.3(FANCD2):c.219A>G (p.Ile73Met) rs2124974577
NM_001018115.3(FANCD2):c.2205G>T (p.Arg735=) rs2125036460
NM_001018115.3(FANCD2):c.2214A>G (p.Arg738=) rs527711543
NM_001018115.3(FANCD2):c.2215C>A (p.Leu739Ile)
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
NM_001018115.3(FANCD2):c.2218T>C (p.Cys740Arg) rs368885711
NM_001018115.3(FANCD2):c.2219G>T (p.Cys740Phe)
NM_001018115.3(FANCD2):c.221C>T (p.Ala74Val)
NM_001018115.3(FANCD2):c.2221G>A (p.Val741Met)
NM_001018115.3(FANCD2):c.2224G>A (p.Glu742Lys)
NM_001018115.3(FANCD2):c.2246T>G (p.Leu749Trp) rs1426222284
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
NM_001018115.3(FANCD2):c.2251G>A (p.Glu751Lys) rs1559389326
NM_001018115.3(FANCD2):c.2252A>C (p.Glu751Ala)
NM_001018115.3(FANCD2):c.2253G>A (p.Glu751=) rs2125036589
NM_001018115.3(FANCD2):c.2255T>C (p.Ile752Thr)
NM_001018115.3(FANCD2):c.2259T>C (p.Asp753=)
NM_001018115.3(FANCD2):c.2266C>T (p.Leu756=)
NM_001018115.3(FANCD2):c.2269+11_2269+12del
NM_001018115.3(FANCD2):c.2269+16A>G
NM_001018115.3(FANCD2):c.2269+16A>T
NM_001018115.3(FANCD2):c.2269+1G>A
NM_001018115.3(FANCD2):c.2269+20G>C rs2087695350
NM_001018115.3(FANCD2):c.2269+9T>G
NM_001018115.3(FANCD2):c.2270-10T>C rs2125037080
NM_001018115.3(FANCD2):c.2270-1G>C
NM_001018115.3(FANCD2):c.2270-7C>T
NM_001018115.3(FANCD2):c.2270-9C>G
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu) rs758628578
NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val)
NM_001018115.3(FANCD2):c.2295G>A (p.Leu765=)
NM_001018115.3(FANCD2):c.2300C>T (p.Pro767Leu) rs2087705679
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2311T>C (p.Leu771=) rs1045809342
NM_001018115.3(FANCD2):c.2320A>G (p.Met774Val)
NM_001018115.3(FANCD2):c.2321T>C (p.Met774Thr)
NM_001018115.3(FANCD2):c.2333_2334del (p.Glu778fs)
NM_001018115.3(FANCD2):c.2336G>A (p.Arg779His) rs377083479
NM_001018115.3(FANCD2):c.2340A>G (p.Ser780=)
NM_001018115.3(FANCD2):c.2344A>G (p.Met782Val) rs779740652
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
NM_001018115.3(FANCD2):c.2354_2355del (p.Leu785fs)
NM_001018115.3(FANCD2):c.2358A>G (p.Ile786Met) rs2087707764
NM_001018115.3(FANCD2):c.235dup (p.Leu79fs) rs2124974621
NM_001018115.3(FANCD2):c.2367T>G (p.Thr789=)
NM_001018115.3(FANCD2):c.2373C>T (p.Asn791=) rs1575795387
NM_001018115.3(FANCD2):c.237C>G (p.Leu79=)
NM_001018115.3(FANCD2):c.2381G>A (p.Arg794Gln)
NM_001018115.3(FANCD2):c.2385+6C>T
NM_001018115.3(FANCD2):c.2385+8G>T
NM_001018115.3(FANCD2):c.2386-11G>A
NM_001018115.3(FANCD2):c.2386-5T>C
NM_001018115.3(FANCD2):c.2386-9A>G
NM_001018115.3(FANCD2):c.2386A>C (p.Ile796Leu)
NM_001018115.3(FANCD2):c.2387T>C (p.Ile796Thr)
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp) rs1193547837
NM_001018115.3(FANCD2):c.2397C>A (p.Ala799=)
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter) rs1374735618
NM_001018115.3(FANCD2):c.2406G>A (p.Gln802=)
NM_001018115.3(FANCD2):c.2412A>G (p.Thr804=)
NM_001018115.3(FANCD2):c.2422A>T (p.Met808Leu) rs375415579
NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)
NM_001018115.3(FANCD2):c.2436G>A (p.Val812=)
NM_001018115.3(FANCD2):c.2442T>C (p.Thr814=)
NM_001018115.3(FANCD2):c.2446T>G (p.Leu816Val) rs2125039040
NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)
NM_001018115.3(FANCD2):c.2451G>A (p.Lys817=)
NM_001018115.3(FANCD2):c.2451G>C (p.Lys817Asn)
NM_001018115.3(FANCD2):c.2464T>C (p.Leu822=)
NM_001018115.3(FANCD2):c.2472A>C (p.Ile824=)
NM_001018115.3(FANCD2):c.2484G>C (p.Lys828Asn)
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_001018115.3(FANCD2):c.2488T>G (p.Leu830Val)
NM_001018115.3(FANCD2):c.2490G>A (p.Leu830=)
NM_001018115.3(FANCD2):c.2494+10G>A
NM_001018115.3(FANCD2):c.2494+11T>A
NM_001018115.3(FANCD2):c.2494+13T>C
NM_001018115.3(FANCD2):c.2494+18T>G
NM_001018115.3(FANCD2):c.2494+95C>A rs1575797993
NM_001018115.3(FANCD2):c.2494+97T>A rs1575797996
NM_001018115.3(FANCD2):c.2494+98C>A rs1575798002
NM_001018115.3(FANCD2):c.2495-13C>T
NM_001018115.3(FANCD2):c.2495-14G>A
NM_001018115.3(FANCD2):c.2495-16C>T
NM_001018115.3(FANCD2):c.2495-18G>C
NM_001018115.3(FANCD2):c.2495-2A>G
NM_001018115.3(FANCD2):c.2495-3C>A rs2125047914
NM_001018115.3(FANCD2):c.2495-4T>G rs1553612428
NM_001018115.3(FANCD2):c.2495-7G>A
NM_001018115.3(FANCD2):c.2496C>T (p.Val832=)
NM_001018115.3(FANCD2):c.2499C>T (p.Thr833=)
NM_001018115.3(FANCD2):c.249G>C (p.Leu83=) rs2086682680
NM_001018115.3(FANCD2):c.2502A>G (p.Pro834=)
NM_001018115.3(FANCD2):c.2507A>G (p.Tyr836Cys)
NM_001018115.3(FANCD2):c.2508T>C (p.Tyr836=)
NM_001018115.3(FANCD2):c.2511C>A (p.Val837=)
NM_001018115.3(FANCD2):c.2511C>G (p.Val837=)
NM_001018115.3(FANCD2):c.2514T>G (p.Pro838=)
NM_001018115.3(FANCD2):c.2544A>G (p.Leu848=)
NM_001018115.3(FANCD2):c.2555C>T (p.Pro852Leu) rs375827113
NM_001018115.3(FANCD2):c.2556T>C (p.Pro852=)
NM_001018115.3(FANCD2):c.2562T>C (p.Thr854=)
NM_001018115.3(FANCD2):c.2564_2569del (p.Val855_Thr856del) rs1693335762
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu) rs886057691
NM_001018115.3(FANCD2):c.2584A>C (p.Ile862Leu)
NM_001018115.3(FANCD2):c.2593A>C (p.Lys865Gln)
NM_001018115.3(FANCD2):c.259C>G (p.Pro87Ala)
NM_001018115.3(FANCD2):c.2605+12C>A
NM_001018115.3(FANCD2):c.2605+25_2605+29del rs1278623181
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2605+8T>C
NM_001018115.3(FANCD2):c.2605+9G>A
NM_001018115.3(FANCD2):c.2606-11del
NM_001018115.3(FANCD2):c.2606-12_2606-11del rs754006641
NM_001018115.3(FANCD2):c.2606-15T>C rs2125048406
NM_001018115.3(FANCD2):c.2606-16C>G
NM_001018115.3(FANCD2):c.2606-18C>T rs1693351182
NM_001018115.3(FANCD2):c.2606-9A>G
NM_001018115.3(FANCD2):c.2609G>T (p.Arg870Met)
NM_001018115.3(FANCD2):c.2610G>C (p.Arg870Ser)
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)
NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)
NM_001018115.3(FANCD2):c.2621C>G (p.Thr874Arg)
NM_001018115.3(FANCD2):c.2622A>G (p.Thr874=)
NM_001018115.3(FANCD2):c.2625T>C (p.Asp875=)
NM_001018115.3(FANCD2):c.2631C>G (p.Ser877Arg)
NM_001018115.3(FANCD2):c.2640C>G (p.Ser880=)
NM_001018115.3(FANCD2):c.2652A>G (p.Thr884=)
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs) rs762544228
NM_001018115.3(FANCD2):c.2667A>G (p.Lys889=)
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
NM_001018115.3(FANCD2):c.2683C>T (p.Pro895Ser) rs1693355244
NM_001018115.3(FANCD2):c.2687C>T (p.Thr896Met)
NM_001018115.3(FANCD2):c.2691A>C (p.Pro897=)
NM_001018115.3(FANCD2):c.2691A>G (p.Pro897=)
NM_001018115.3(FANCD2):c.2693C>G (p.Ser898Cys) rs1693356065
NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)
NM_001018115.3(FANCD2):c.2697T>C (p.His899=)
NM_001018115.3(FANCD2):c.2705A>G (p.Gln902Arg) rs766865689
NM_001018115.3(FANCD2):c.2715+10T>G
NM_001018115.3(FANCD2):c.2715+11G>A
NM_001018115.3(FANCD2):c.2715+11G>T
NM_001018115.3(FANCD2):c.2715+16del
NM_001018115.3(FANCD2):c.2715+17T>G
NM_001018115.3(FANCD2):c.2716-12A>G
NM_001018115.3(FANCD2):c.2716-13G>A
NM_001018115.3(FANCD2):c.2716-9T>A
NM_001018115.3(FANCD2):c.2716-9T>G rs760325562
NM_001018115.3(FANCD2):c.271A>G (p.Lys91Glu)
NM_001018115.3(FANCD2):c.2724A>G (p.Thr908=)
NM_001018115.3(FANCD2):c.2725G>A (p.Gly909Arg)
NM_001018115.3(FANCD2):c.2727G>A (p.Gly909=)
NM_001018115.3(FANCD2):c.2728A>G (p.Lys910Glu) rs1693428697
NM_001018115.3(FANCD2):c.273+12del rs758809407
NM_001018115.3(FANCD2):c.273+15C>T
NM_001018115.3(FANCD2):c.2732A>G (p.Glu911Gly)
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
NM_001018115.3(FANCD2):c.2739G>A (p.Lys913=) rs2125050010
NM_001018115.3(FANCD2):c.274-11del
NM_001018115.3(FANCD2):c.274-14del
NM_001018115.3(FANCD2):c.274-6C>A
NM_001018115.3(FANCD2):c.274-9C>G
NM_001018115.3(FANCD2):c.274-9C>T
NM_001018115.3(FANCD2):c.2741CAT[1] (p.Ser915del)
NM_001018115.3(FANCD2):c.2742A>G (p.Thr914=)
NM_001018115.3(FANCD2):c.2745A>G (p.Ser915=)
NM_001018115.3(FANCD2):c.2753T>C (p.Leu918Pro)
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)
NM_001018115.3(FANCD2):c.2769T>C (p.Ala923=)
NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter) rs1693433379
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001018115.3(FANCD2):c.2777G>A (p.Arg926Gln)
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu) rs532250395
NM_001018115.3(FANCD2):c.2778_2779delinsGT (p.Glu927Ter)
NM_001018115.3(FANCD2):c.278T>C (p.Ile93Thr)
NM_001018115.3(FANCD2):c.2796C>T (p.Val932=)
NM_001018115.3(FANCD2):c.2799C>T (p.Phe933=)
NM_001018115.3(FANCD2):c.279A>G (p.Ile93Met) rs1559370542
NM_001018115.3(FANCD2):c.2803A>G (p.Ile935Val) rs61751578
NM_001018115.3(FANCD2):c.2809del (p.His937fs)
NM_001018115.3(FANCD2):c.280del (p.Glu94fs)
NM_001018115.3(FANCD2):c.2811T>C (p.His937=)
NM_001018115.3(FANCD2):c.2814T>C (p.Cys938=) rs2125050162
NM_001018115.3(FANCD2):c.2816G>C (p.Gly939Ala)
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_001018115.3(FANCD2):c.2833A>G (p.Ile945Val) rs1365150085
NM_001018115.3(FANCD2):c.2835dup (p.Asp947fs) rs1693439048
NM_001018115.3(FANCD2):c.2837T>G (p.Leu946Ter)
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)
NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter)
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.2854del (p.Thr952fs)
NM_001018115.3(FANCD2):c.2859+11G>A
NM_001018115.3(FANCD2):c.2859+11G>T
NM_001018115.3(FANCD2):c.2859+12G>A rs2125050262
NM_001018115.3(FANCD2):c.2859+14T>G
NM_001018115.3(FANCD2):c.2859+19T>C
NM_001018115.3(FANCD2):c.285A>C (p.Glu95Asp)
NM_001018115.3(FANCD2):c.2860-10C>T
NM_001018115.3(FANCD2):c.2860-11C>T
NM_001018115.3(FANCD2):c.2860-4A>C rs2125054543
NM_001018115.3(FANCD2):c.2860-5G>A
NM_001018115.3(FANCD2):c.2860-8T>C
NM_001018115.3(FANCD2):c.2860G>T (p.Ala954Ser)
NM_001018115.3(FANCD2):c.2867_2869del (p.Glu956del) rs1693630743
NM_001018115.3(FANCD2):c.2869G>C (p.Val957Leu) rs762683227
NM_001018115.3(FANCD2):c.2882G>A (p.Gly961Glu)
NM_001018115.3(FANCD2):c.2886C>A (p.Pro962=)
NM_001018115.3(FANCD2):c.2886C>G (p.Pro962=)
NM_001018115.3(FANCD2):c.2886C>T (p.Pro962=)
NM_001018115.3(FANCD2):c.2889T>C (p.Pro963=)
NM_001018115.3(FANCD2):c.288T>C (p.Phe96=)
NM_001018115.3(FANCD2):c.2907G>A (p.Leu969=)
NM_001018115.3(FANCD2):c.2908G>C (p.Glu970Gln)
NM_001018115.3(FANCD2):c.2916C>T (p.Leu972=)
NM_001018115.3(FANCD2):c.2931G>A (p.Glu977=)
NM_001018115.3(FANCD2):c.2932A>T (p.Ser978Cys)
NM_001018115.3(FANCD2):c.2933G>A (p.Ser978Asn)
NM_001018115.3(FANCD2):c.2937G>A (p.Met979Ile) rs779245007
NM_001018115.3(FANCD2):c.2943A>T (p.Thr981=)
NM_001018115.3(FANCD2):c.2944C>T (p.Pro982Ser) rs1051740558
NM_001018115.3(FANCD2):c.2947C>T (p.Pro983Ser)
NM_001018115.3(FANCD2):c.294T>C (p.Ser98=)
NM_001018115.3(FANCD2):c.2955C>T (p.Ala985=)
NM_001018115.3(FANCD2):c.2958G>A (p.Arg986=)
NM_001018115.3(FANCD2):c.2959A>G (p.Arg987Gly)
NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs)
NM_001018115.3(FANCD2):c.2967C>G (p.Pro989=) rs2125054748
NM_001018115.3(FANCD2):c.2967C>T (p.Pro989=)
NM_001018115.3(FANCD2):c.2971C>G (p.Leu991Val) rs1575817874
NM_001018115.3(FANCD2):c.2971C>T (p.Leu991Phe)
NM_001018115.3(FANCD2):c.2973C>G (p.Leu991=)
NM_001018115.3(FANCD2):c.2976+11G>A
NM_001018115.3(FANCD2):c.2976+12C>T
NM_001018115.3(FANCD2):c.2976+12del
NM_001018115.3(FANCD2):c.2976+15A>T rs2125054794
NM_001018115.3(FANCD2):c.2976+19A>G
NM_001018115.3(FANCD2):c.2976+19A>T
NM_001018115.3(FANCD2):c.2976+20T>C
NM_001018115.3(FANCD2):c.2976+23_2976+35del
NM_001018115.3(FANCD2):c.2976+7G>T
NM_001018115.3(FANCD2):c.2977-13G>T
NM_001018115.3(FANCD2):c.2977-14T>A rs2125059347
NM_001018115.3(FANCD2):c.2977-17C>G
NM_001018115.3(FANCD2):c.2977-17C>T
NM_001018115.3(FANCD2):c.2977-18A>C
NM_001018115.3(FANCD2):c.2977-2A>G rs1206160345
NM_001018115.3(FANCD2):c.2977-4A>G
NM_001018115.3(FANCD2):c.2977-7A>G
NM_001018115.3(FANCD2):c.2978A>G (p.Asn993Ser)
NM_001018115.3(FANCD2):c.2979C>T (p.Asn993=)
NM_001018115.3(FANCD2):c.2985A>T (p.Gly995=) rs1575823725
NM_001018115.3(FANCD2):c.2988C>A (p.Ser996Arg)
NM_001018115.3(FANCD2):c.298C>T (p.Leu100=)
NM_001018115.3(FANCD2):c.2992A>T (p.Asn998Tyr)
NM_001018115.3(FANCD2):c.2995A>G (p.Ile999Val)
NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr) rs2086516483
NM_001018115.3(FANCD2):c.3005C>T (p.Ser1002Leu)
NM_001018115.3(FANCD2):c.300G>A (p.Leu100=) rs2124975151
NM_001018115.3(FANCD2):c.3012C>T (p.Leu1004=)
NM_001018115.3(FANCD2):c.3014A>G (p.Gln1005Arg) rs964376104
NM_001018115.3(FANCD2):c.3015A>G (p.Gln1005=)
NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)
NM_001018115.3(FANCD2):c.3020G>T (p.Arg1007Ile) rs901861823
NM_001018115.3(FANCD2):c.3021A>G (p.Arg1007=)
NM_001018115.3(FANCD2):c.3024T>C (p.Ser1008=)
NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs) rs2124975164
NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)
NM_001018115.3(FANCD2):c.3039T>A (p.Val1013=)
NM_001018115.3(FANCD2):c.3043T>C (p.Cys1015Arg) rs2125059575
NM_001018115.3(FANCD2):c.3044del (p.Cys1015fs)
NM_001018115.3(FANCD2):c.3048T>G (p.Val1016=)
NM_001018115.3(FANCD2):c.3049T>G (p.Phe1017Val)
NM_001018115.3(FANCD2):c.3051T>A (p.Phe1017Leu)
NM_001018115.3(FANCD2):c.3075C>A (p.Asn1025Lys)
NM_001018115.3(FANCD2):c.308_312del (p.Ser102_Tyr103insTer)
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs) rs1559399574
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)
NM_001018115.3(FANCD2):c.3105+12A>G
NM_001018115.3(FANCD2):c.3106-13T>C
NM_001018115.3(FANCD2):c.3106-14A>C
NM_001018115.3(FANCD2):c.3106-14A>G
NM_001018115.3(FANCD2):c.3106-15C>A
NM_001018115.3(FANCD2):c.3106-15C>G
NM_001018115.3(FANCD2):c.3106-15C>T
NM_001018115.3(FANCD2):c.3106-19A>T
NM_001018115.3(FANCD2):c.3108T>C (p.Cys1036=)
NM_001018115.3(FANCD2):c.3139G>A (p.Gly1047Arg) rs1693825081
NM_001018115.3(FANCD2):c.3151A>G (p.Lys1051Glu) rs2125060028
NM_001018115.3(FANCD2):c.3155T>A (p.Val1052Asp)
NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)
NM_001018115.3(FANCD2):c.3169A>G (p.Ile1057Val)
NM_001018115.3(FANCD2):c.3181T>C (p.Cys1061Arg) rs1693827482
NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs) rs2125060144
NM_001018115.3(FANCD2):c.3195G>A (p.Leu1065=)
NM_001018115.3(FANCD2):c.3197T>C (p.Leu1066Pro)
NM_001018115.3(FANCD2):c.3201G>T (p.Gln1067His)
NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr) rs2125060186
NM_001018115.3(FANCD2):c.3208C>G (p.His1070Asp) rs201184977
NM_001018115.3(FANCD2):c.3208C>T (p.His1070Tyr)
NM_001018115.3(FANCD2):c.3209A>C (p.His1070Pro)
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg) rs759516610
NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs) rs1575824608
NM_001018115.3(FANCD2):c.3224+10T>C
NM_001018115.3(FANCD2):c.3224+11G>A
NM_001018115.3(FANCD2):c.3224+1G>C
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3224+7A>G
NM_001018115.3(FANCD2):c.3224+8T>C
NM_001018115.3(FANCD2):c.3225-10A>G
NM_001018115.3(FANCD2):c.3225-14C>G
NM_001018115.3(FANCD2):c.3225-16A>T
NM_001018115.3(FANCD2):c.3225-17T>C
NM_001018115.3(FANCD2):c.3225-4T>G
NM_001018115.3(FANCD2):c.3225-6_3225-3del
NM_001018115.3(FANCD2):c.3225-9C>T
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
NM_001018115.3(FANCD2):c.3240A>G (p.Gln1080=) rs1694161718
NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)
NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)
NM_001018115.3(FANCD2):c.3252G>A (p.Gln1084=)
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)
NM_001018115.3(FANCD2):c.3274C>T (p.His1092Tyr)
NM_001018115.3(FANCD2):c.3279C>A (p.Val1093=)
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
NM_001018115.3(FANCD2):c.3291A>C (p.Arg1097=)
NM_001018115.3(FANCD2):c.3292C>A (p.Leu1098Met)
NM_001018115.3(FANCD2):c.3292C>T (p.Leu1098=)
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
NM_001018115.3(FANCD2):c.3306A>C (p.Glu1102Asp)
NM_001018115.3(FANCD2):c.3319T>G (p.Leu1107Val)
NM_001018115.3(FANCD2):c.3323A>G (p.Glu1108Gly)
NM_001018115.3(FANCD2):c.3325G>A (p.Glu1109Lys)
NM_001018115.3(FANCD2):c.3335+11A>G
NM_001018115.3(FANCD2):c.3335+16A>G
NM_001018115.3(FANCD2):c.3335+19G>C
NM_001018115.3(FANCD2):c.3335+3G>A
NM_001018115.3(FANCD2):c.3335+8A>G
NM_001018115.3(FANCD2):c.3336-10C>G
NM_001018115.3(FANCD2):c.3336-4dup
NM_001018115.3(FANCD2):c.3336-8C>T
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001018115.3(FANCD2):c.3342C>T (p.Ser1114=)
NM_001018115.3(FANCD2):c.334A>C (p.Asn112His) rs2086689020
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=) rs566518051
NM_001018115.3(FANCD2):c.3354G>A (p.Leu1118=)
NM_001018115.3(FANCD2):c.3355C>A (p.Gln1119Lys) rs1031970731
NM_001018115.3(FANCD2):c.3369A>G (p.Gln1123=)
NM_001018115.3(FANCD2):c.336C>T (p.Asn112=)
NM_001018115.3(FANCD2):c.3371G>C (p.Ser1124Thr)
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs) rs2125072480
NM_001018115.3(FANCD2):c.3381T>C (p.Ser1127=)
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter) rs2125072527
NM_001018115.3(FANCD2):c.3393T>C (p.Ala1131=)
NM_001018115.3(FANCD2):c.3405C>T (p.Ile1135=)
NM_001018115.3(FANCD2):c.3426G>A (p.Leu1142=)
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.3460A>G (p.Lys1154Glu)
NM_001018115.3(FANCD2):c.3462A>C (p.Lys1154Asn) rs1559403678
NM_001018115.3(FANCD2):c.3466+1G>A
NM_001018115.3(FANCD2):c.3466+6G>A
NM_001018115.3(FANCD2):c.3466+9C>T rs33998487
NM_001018115.3(FANCD2):c.3467-11T>G
NM_001018115.3(FANCD2):c.3467-12C>G
NM_001018115.3(FANCD2):c.3467-12_3467-10del
NM_001018115.3(FANCD2):c.3467-2A>G
NM_001018115.3(FANCD2):c.3467-3C>A rs1694370265
NM_001018115.3(FANCD2):c.3467-8T>G rs2125076487
NM_001018115.3(FANCD2):c.3468T>G (p.Ala1156=) rs2125076511
NM_001018115.3(FANCD2):c.3474T>C (p.Leu1158=)
NM_001018115.3(FANCD2):c.347_351del (p.Leu115_Ser116insTer)
NM_001018115.3(FANCD2):c.3489C>T (p.Leu1163=)
NM_001018115.3(FANCD2):c.348T>C (p.Ser116=)
NM_001018115.3(FANCD2):c.348T>G (p.Ser116=)
NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln) rs549507714
NM_001018115.3(FANCD2):c.3500G>A (p.Trp1167Ter) rs2125076610
NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)
NM_001018115.3(FANCD2):c.3501del (p.Trp1167fs)
NM_001018115.3(FANCD2):c.3502_3503insT (p.Pro1168fs)
NM_001018115.3(FANCD2):c.3507T>G (p.Ser1169Arg) rs1373304921
NM_001018115.3(FANCD2):c.350G>C (p.Cys117Ser)
NM_001018115.3(FANCD2):c.3528C>T (p.Asn1176=)
NM_001018115.3(FANCD2):c.3531C>A (p.Ile1177=)
NM_001018115.3(FANCD2):c.3531C>T (p.Ile1177=)
NM_001018115.3(FANCD2):c.3533C>G (p.Ser1178Cys) rs1472283913
NM_001018115.3(FANCD2):c.3535A>G (p.Asn1179Asp) rs949980921
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter) rs1694376599
NM_001018115.3(FANCD2):c.3546C>T (p.Leu1182=) rs2125076733
NM_001018115.3(FANCD2):c.3551C>A (p.Ala1184Asp)
NM_001018115.3(FANCD2):c.3552T>A (p.Ala1184=)
NM_001018115.3(FANCD2):c.3552T>C (p.Ala1184=)
NM_001018115.3(FANCD2):c.3560+11T>C
NM_001018115.3(FANCD2):c.3560+13G>A
NM_001018115.3(FANCD2):c.3560+1G>A
NM_001018115.3(FANCD2):c.3561-13A>G
NM_001018115.3(FANCD2):c.3561-1del rs2125077559
NM_001018115.3(FANCD2):c.3561-9T>C
NM_001018115.3(FANCD2):c.3564C>T (p.Ile1188=)
NM_001018115.3(FANCD2):c.3565T>A (p.Tyr1189Asn) rs1273519317
NM_001018115.3(FANCD2):c.356G>C (p.Arg119Pro)
NM_001018115.3(FANCD2):c.3584G>C (p.Ser1195Thr)
NM_001018115.3(FANCD2):c.3586A>G (p.Ile1196Val) rs1339689117
NM_001018115.3(FANCD2):c.3591G>A (p.Leu1197=)
NM_001018115.3(FANCD2):c.3594G>A (p.Lys1198=) rs1463556947
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs) rs1694404041
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val) rs2086517367
NM_001018115.3(FANCD2):c.3615T>G (p.Gly1205=)
NM_001018115.3(FANCD2):c.3618T>C (p.Val1206=)
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)
NM_001018115.3(FANCD2):c.3623T>A (p.Val1208Asp)
NM_001018115.3(FANCD2):c.3643C>T (p.Pro1215Ser) rs941244378
NM_001018115.3(FANCD2):c.3645T>G (p.Pro1215=)
NM_001018115.3(FANCD2):c.365A>C (p.Asp122Ala)
NM_001018115.3(FANCD2):c.3660C>G (p.Ser1220=) rs1559404961
NM_001018115.3(FANCD2):c.3683+12C>A
NM_001018115.3(FANCD2):c.3683+17C>T
NM_001018115.3(FANCD2):c.3683+18T>C
NM_001018115.3(FANCD2):c.3683+5G>C
NM_001018115.3(FANCD2):c.3684-10C>T
NM_001018115.3(FANCD2):c.3684-12C>G
NM_001018115.3(FANCD2):c.3684-14T>C
NM_001018115.3(FANCD2):c.3684-18G>C
NM_001018115.3(FANCD2):c.3684-5T>C rs1262479173
NM_001018115.3(FANCD2):c.3684-9G>T
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
NM_001018115.3(FANCD2):c.3694GTT[1] (p.Val1233del)
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser) rs771078251
NM_001018115.3(FANCD2):c.3707G>T (p.Arg1236Leu)
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001018115.3(FANCD2):c.3716T>A (p.Met1239Lys) rs1694512844
NM_001018115.3(FANCD2):c.3723A>G (p.Glu1241=)
NM_001018115.3(FANCD2):c.3738G>A (p.Val1246=)
NM_001018115.3(FANCD2):c.3749_3777+789del rs2125081509
NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)
NM_001018115.3(FANCD2):c.3768C>T (p.Asp1256=)
NM_001018115.3(FANCD2):c.377+6G>A
NM_001018115.3(FANCD2):c.3771G>A (p.Ser1257=)
NM_001018115.3(FANCD2):c.3771G>T (p.Ser1257=)
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu) rs1486214768
NM_001018115.3(FANCD2):c.3777+16G>A
NM_001018115.3(FANCD2):c.3777+17T>A
NM_001018115.3(FANCD2):c.3777+5G>A rs368999017
NM_001018115.3(FANCD2):c.3777+83_3777+86del rs773716319
NM_001018115.3(FANCD2):c.3777+8A>G
NM_001018115.3(FANCD2):c.3778-16T>A rs767539823
NM_001018115.3(FANCD2):c.3778-17del
NM_001018115.3(FANCD2):c.3778-19A>C
NM_001018115.3(FANCD2):c.3778-19A>G
NM_001018115.3(FANCD2):c.378-1G>C
NM_001018115.3(FANCD2):c.378-3C>T rs74923817
NM_001018115.3(FANCD2):c.378-5T>C
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001018115.3(FANCD2):c.378-9T>A
NM_001018115.3(FANCD2):c.3788A>G (p.Glu1263Gly) rs886057692
NM_001018115.3(FANCD2):c.3792A>G (p.Lys1264=)
NM_001018115.3(FANCD2):c.3793C>T (p.Leu1265Phe) rs749410557
NM_001018115.3(FANCD2):c.3793CTC[1] (p.Leu1266del) rs2125086057
NM_001018115.3(FANCD2):c.3798C>G (p.Leu1266=)
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
NM_001018115.3(FANCD2):c.3802T>G (p.Trp1268Gly) rs1196009515
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001018115.3(FANCD2):c.3807C>T (p.Asn1269=)
NM_001018115.3(FANCD2):c.3831C>T (p.Ile1277=)
NM_001018115.3(FANCD2):c.383G>A (p.Gly128Asp) rs760551106
NM_001018115.3(FANCD2):c.3848A>G (p.Lys1283Arg) rs762148969
NM_001018115.3(FANCD2):c.3849+12G>A
NM_001018115.3(FANCD2):c.3849+12_3849+13delinsAG
NM_001018115.3(FANCD2):c.3849+16G>A rs767163581
NM_001018115.3(FANCD2):c.3849+1G>A
NM_001018115.3(FANCD2):c.3849+1G>T
NM_001018115.3(FANCD2):c.3850-10A>C
NM_001018115.3(FANCD2):c.3850-10A>G
NM_001018115.3(FANCD2):c.3850-15C>T
NM_001018115.3(FANCD2):c.3850-6C>A
NM_001018115.3(FANCD2):c.3860G>C (p.Ser1287Thr)
NM_001018115.3(FANCD2):c.3869T>C (p.Val1290Ala) rs2125088623
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
NM_001018115.3(FANCD2):c.3879A>T (p.Val1293=) rs2125088663
NM_001018115.3(FANCD2):c.3883T>C (p.Leu1295=)
NM_001018115.3(FANCD2):c.3888+16G>C
NM_001018115.3(FANCD2):c.3888+18C>T
NM_001018115.3(FANCD2):c.3888+5G>A
NM_001018115.3(FANCD2):c.3888+7G>C rs1482801348
NM_001018115.3(FANCD2):c.3888+7G>T
NM_001018115.3(FANCD2):c.3889-16T>C
NM_001018115.3(FANCD2):c.3889-1G>A
NM_001018115.3(FANCD2):c.3889-20A>T rs2125090552
NM_001018115.3(FANCD2):c.3889-20_3889-19del
NM_001018115.3(FANCD2):c.3889-2A>G
NM_001018115.3(FANCD2):c.3889-5_3889-3del rs2125090590
NM_001018115.3(FANCD2):c.3889-8T>C
NM_001018115.3(FANCD2):c.3891T>C (p.Tyr1297=)
NM_001018115.3(FANCD2):c.3894G>A (p.Gly1298=)
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)
NM_001018115.3(FANCD2):c.3900C>A (p.Leu1300=)
NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter) rs148471911
NM_001018115.3(FANCD2):c.3924A>G (p.Gln1308=)
NM_001018115.3(FANCD2):c.3925T>G (p.Cys1309Gly)
NM_001018115.3(FANCD2):c.3934C>T (p.Leu1312Phe) rs2125090749
NM_001018115.3(FANCD2):c.3946A>C (p.Ser1316Arg)
NM_001018115.3(FANCD2):c.3958C>T (p.His1320Tyr) rs2125090799
NM_001018115.3(FANCD2):c.3962G>A (p.Arg1321Gln) rs147205530
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_001018115.3(FANCD2):c.3963+10A>G
NM_001018115.3(FANCD2):c.3963+14G>A
NM_001018115.3(FANCD2):c.3963+15C>T
NM_001018115.3(FANCD2):c.3963+16A>T
NM_001018115.3(FANCD2):c.3963+19G>A rs2125090870
NM_001018115.3(FANCD2):c.3963_3963+1inv
NM_001018115.3(FANCD2):c.3970G>A (p.Val1324Ile)
NM_001018115.3(FANCD2):c.3972T>C (p.Val1324=)
NM_001018115.3(FANCD2):c.3981A>G (p.Leu1327=)
NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)
NM_001018115.3(FANCD2):c.3999G>A (p.Leu1333=) rs1694883609
NM_001018115.3(FANCD2):c.39dup (p.Glu14fs) rs1575723664
NM_001018115.3(FANCD2):c.400_401del (p.Leu135fs)
NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)
NM_001018115.3(FANCD2):c.4016A>C (p.His1339Pro) rs1559408827
NM_001018115.3(FANCD2):c.4021C>T (p.Leu1341=)
NM_001018115.3(FANCD2):c.4022T>G (p.Leu1341Arg)
NM_001018115.3(FANCD2):c.4038+10_4038+11dup
NM_001018115.3(FANCD2):c.4038+11G>C
NM_001018115.3(FANCD2):c.4038+12A>G
NM_001018115.3(FANCD2):c.4038+20C>T
NM_001018115.3(FANCD2):c.4038+2T>G
NM_001018115.3(FANCD2):c.4039-12A>G
NM_001018115.3(FANCD2):c.4039-2A>G
NM_001018115.3(FANCD2):c.4059C>T (p.Leu1353=)
NM_001018115.3(FANCD2):c.405C>T (p.Leu135=)
NM_001018115.3(FANCD2):c.4062C>G (p.Thr1354=)
NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
NM_001018115.3(FANCD2):c.4067A>G (p.His1356Arg) rs1348547984
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
NM_001018115.3(FANCD2):c.4105T>G (p.Cys1369Gly) rs995972011
NM_001018115.3(FANCD2):c.4106G>A (p.Cys1369Tyr)
NM_001018115.3(FANCD2):c.4112T>A (p.Val1371Asp) rs2125095439
NM_001018115.3(FANCD2):c.4120A>G (p.Met1374Val)
NM_001018115.3(FANCD2):c.4126A>G (p.Thr1376Ala)
NM_001018115.3(FANCD2):c.4128T>C (p.Thr1376=)
NM_001018115.3(FANCD2):c.4128_4131dup (p.Asn1378fs)
NM_001018115.3(FANCD2):c.412C>T (p.Leu138=)
NM_001018115.3(FANCD2):c.4131C>T (p.Leu1377=) rs2125095502
NM_001018115.3(FANCD2):c.4132A>C (p.Asn1378His)
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=) rs752376206
NM_001018115.3(FANCD2):c.4138T>C (p.Cys1380Arg)
NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter) rs954149471
NM_001018115.3(FANCD2):c.4161C>A (p.Gly1387=)
NM_001018115.3(FANCD2):c.4167A>G (p.Leu1389=) rs2125095618
NM_001018115.3(FANCD2):c.4171A>C (p.Asn1391His) rs1694972063
NM_001018115.3(FANCD2):c.4174C>T (p.Arg1392Trp)
NM_001018115.3(FANCD2):c.4176G>A (p.Arg1392=)
NM_001018115.3(FANCD2):c.4185+10G>A
NM_001018115.3(FANCD2):c.4185+12A>T
NM_001018115.3(FANCD2):c.4185+5G>T rs2125095695
NM_001018115.3(FANCD2):c.4186-10T>G
NM_001018115.3(FANCD2):c.4186-11T>C
NM_001018115.3(FANCD2):c.4186-12A>G
NM_001018115.3(FANCD2):c.4186-14C>T rs1379128834
NM_001018115.3(FANCD2):c.4186-16G>A
NM_001018115.3(FANCD2):c.4186-2A>G
NM_001018115.3(FANCD2):c.4194G>A (p.Glu1398=)
NM_001018115.3(FANCD2):c.4202C>T (p.Ser1401Phe)
NM_001018115.3(FANCD2):c.4210T>A (p.Ser1404Thr)
NM_001018115.3(FANCD2):c.4232A>C (p.Glu1411Ala) rs753252480
NM_001018115.3(FANCD2):c.4233G>A (p.Glu1411=)
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001018115.3(FANCD2):c.4239G>A (p.Glu1413=)
NM_001018115.3(FANCD2):c.4245C>T (p.Asp1415=)
NM_001018115.3(FANCD2):c.4254C>G (p.Ser1418=)
NM_001018115.3(FANCD2):c.4257G>A (p.Gln1419=)
NM_001018115.3(FANCD2):c.4263dup (p.Lys1422fs)
NM_001018115.3(FANCD2):c.4264A>C (p.Lys1422Gln) rs1695131902
NM_001018115.3(FANCD2):c.426T>A (p.Ile142=)
NM_001018115.3(FANCD2):c.4281+111A>G
NM_001018115.3(FANCD2):c.4281+132A>G
NM_001018115.3(FANCD2):c.4281+132A>T
NM_001018115.3(FANCD2):c.4281+16C>T rs1695133266
NM_001018115.3(FANCD2):c.4281+18A>G rs753560188
NM_001018115.3(FANCD2):c.4281+1del
NM_001018115.3(FANCD2):c.4281+517A>C rs1695165243
NM_001018115.3(FANCD2):c.4281+543C>T rs540249462
NM_001018115.3(FANCD2):c.4281+58C>T
NM_001018115.3(FANCD2):c.4281+65G>A
NM_001018115.3(FANCD2):c.4281+72C>T
NM_001018115.3(FANCD2):c.4281+823A>G rs886057697
NM_001018115.3(FANCD2):c.4281+90T>C
NM_001018115.3(FANCD2):c.4281+96T>C
NM_001018115.3(FANCD2):c.4281+9A>G
NM_001018115.3(FANCD2):c.4338T>G (p.Ser1446Arg) rs2125105648
NM_001018115.3(FANCD2):c.438+7C>A
NM_001018115.3(FANCD2):c.438+8dup rs2124976192
NM_001018115.3(FANCD2):c.438+9G>A
NM_001018115.3(FANCD2):c.438+9_438+10del
NM_001018115.3(FANCD2):c.439-14G>T rs778758088
NM_001018115.3(FANCD2):c.439-16A>C
NM_001018115.3(FANCD2):c.439-17T>G
NM_001018115.3(FANCD2):c.439-18C>G
NM_001018115.3(FANCD2):c.444C>G (p.Ala148=) rs2124978509
NM_001018115.3(FANCD2):c.44G>C (p.Ser15Thr)
NM_001018115.3(FANCD2):c.455C>A (p.Thr152Asn) rs150444770
NM_001018115.3(FANCD2):c.456C>T (p.Thr152=)
NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)
NM_001018115.3(FANCD2):c.45C>T (p.Ser15=)
NM_001018115.3(FANCD2):c.461T>G (p.Phe154Cys)
NM_001018115.3(FANCD2):c.473C>G (p.Pro158Arg) rs2124978557
NM_001018115.3(FANCD2):c.477A>G (p.Glu159=)
NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)
NM_001018115.3(FANCD2):c.486T>G (p.Phe162Leu) rs2086730814
NM_001018115.3(FANCD2):c.491+10G>C rs17032279
NM_001018115.3(FANCD2):c.491+11T>C
NM_001018115.3(FANCD2):c.491+19G>A
NM_001018115.3(FANCD2):c.491+19G>C
NM_001018115.3(FANCD2):c.491+9C>T rs370232992
NM_001018115.3(FANCD2):c.492-13C>T
NM_001018115.3(FANCD2):c.492-7A>G
NM_001018115.3(FANCD2):c.492-8C>T
NM_001018115.3(FANCD2):c.498C>T (p.Asn166=)
NM_001018115.3(FANCD2):c.503A>G (p.Asp168Gly)
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) rs2086805219
NM_001018115.3(FANCD2):c.510C>T (p.Ile170=)
NM_001018115.3(FANCD2):c.519T>C (p.Pro173=)
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
NM_001018115.3(FANCD2):c.527T>C (p.Ile176Thr)
NM_001018115.3(FANCD2):c.531C>G (p.Val177=) rs747006885
NM_001018115.3(FANCD2):c.537A>G (p.Gln179=)
NM_001018115.3(FANCD2):c.550G>T (p.Asp184Tyr) rs2086806903
NM_001018115.3(FANCD2):c.551A>C (p.Asp184Ala)
NM_001018115.3(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_001018115.3(FANCD2):c.561G>A (p.Val187=)
NM_001018115.3(FANCD2):c.570+11G>A
NM_001018115.3(FANCD2):c.570+15T>C
NM_001018115.3(FANCD2):c.570+15T>G
NM_001018115.3(FANCD2):c.570+20C>G
NM_001018115.3(FANCD2):c.570+9A>G
NM_001018115.3(FANCD2):c.571-15T>A
NM_001018115.3(FANCD2):c.571-15T>C
NM_001018115.3(FANCD2):c.571-20A>C
NM_001018115.3(FANCD2):c.571-2A>G
NM_001018115.3(FANCD2):c.571-3C>G rs191386799
NM_001018115.3(FANCD2):c.571-4G>A
NM_001018115.3(FANCD2):c.571-4G>T
NM_001018115.3(FANCD2):c.571-9C>T
NM_001018115.3(FANCD2):c.571G>A (p.Asp191Asn) rs1257501671
NM_001018115.3(FANCD2):c.595C>T (p.Leu199=) rs756336462
NM_001018115.3(FANCD2):c.600C>T (p.Ile200=)
NM_001018115.3(FANCD2):c.604A>G (p.Ile202Val) rs2124985132
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro) rs769402896
NM_001018115.3(FANCD2):c.60C>T (p.Ala20=)
NM_001018115.3(FANCD2):c.618C>T (p.Asn206=)
NM_001018115.3(FANCD2):c.62C>G (p.Ser21Cys)
NM_001018115.3(FANCD2):c.633C>T (p.Ile211=)
NM_001018115.3(FANCD2):c.634A>G (p.Ile212Val) rs2124985240
NM_001018115.3(FANCD2):c.64+10T>G
NM_001018115.3(FANCD2):c.64+1_64+2del rs777719596
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.64+7A>G
NM_001018115.3(FANCD2):c.64+8T>C
NM_001018115.3(FANCD2):c.64+8_64+11del
NM_001018115.3(FANCD2):c.645A>G (p.Leu215=)
NM_001018115.3(FANCD2):c.65-17A>T
NM_001018115.3(FANCD2):c.65-1G>T
NM_001018115.3(FANCD2):c.65-20G>A
NM_001018115.3(FANCD2):c.65-2A>G
NM_001018115.3(FANCD2):c.65-8A>G
NM_001018115.3(FANCD2):c.654C>A (p.Ile218=)
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
NM_001018115.3(FANCD2):c.666C>T (p.Ser222=)
NM_001018115.3(FANCD2):c.667C>G (p.Gln223Glu) rs1307143430
NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
NM_001018115.3(FANCD2):c.673G>A (p.Ala225Thr)
NM_001018115.3(FANCD2):c.678T>C (p.Asp226=)
NM_001018115.3(FANCD2):c.687A>G (p.Lys229=)
NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg) rs2086819957
NM_001018115.3(FANCD2):c.694_695+14del
NM_001018115.3(FANCD2):c.694del (p.Ser232fs)
NM_001018115.3(FANCD2):c.695+11C>A
NM_001018115.3(FANCD2):c.695+12C>G
NM_001018115.3(FANCD2):c.695+12C>T
NM_001018115.3(FANCD2):c.695+1G>A
NM_001018115.3(FANCD2):c.695+2T>A
NM_001018115.3(FANCD2):c.695+5A>G
NM_001018115.3(FANCD2):c.695+6_695+11del rs2124985470
NM_001018115.3(FANCD2):c.695+8_695+9dup
NM_001018115.3(FANCD2):c.696-121C>G rs2086862509
NM_001018115.3(FANCD2):c.696-2A>T rs2086865333
NM_001018115.3(FANCD2):c.696-7T>C
NM_001018115.3(FANCD2):c.696-9C>T
NM_001018115.3(FANCD2):c.696T>C (p.Ser232=)
NM_001018115.3(FANCD2):c.700C>T (p.Leu234=)
NM_001018115.3(FANCD2):c.703C>T (p.Leu235=)
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.70A>G (p.Arg24Gly) rs999832070
NM_001018115.3(FANCD2):c.714T>C (p.Asn238=)
NM_001018115.3(FANCD2):c.723C>T (p.Leu241=) rs1158546653
NM_001018115.3(FANCD2):c.723_737delinsTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGCCTCCGACTGGATGTC (p.Thr242fs)
NM_001018115.3(FANCD2):c.733A>G (p.Ile245Val)
NM_001018115.3(FANCD2):c.736C>T (p.Leu246=)
NM_001018115.3(FANCD2):c.745C>T (p.Leu249Phe)
NM_001018115.3(FANCD2):c.74A>G (p.Lys25Arg)
NM_001018115.3(FANCD2):c.758G>A (p.Arg253Gln)
NM_001018115.3(FANCD2):c.769A>G (p.Asn257Asp)
NM_001018115.3(FANCD2):c.775del (p.Leu259fs) rs2124989402
NM_001018115.3(FANCD2):c.777A>C (p.Leu259=)
NM_001018115.3(FANCD2):c.777A>G (p.Leu259=)
NM_001018115.3(FANCD2):c.77A>C (p.Gln26Pro)
NM_001018115.3(FANCD2):c.783+13C>T
NM_001018115.3(FANCD2):c.783+16C>G
NM_001018115.3(FANCD2):c.783+16C>T
NM_001018115.3(FANCD2):c.783+6A>G
NM_001018115.3(FANCD2):c.783+7A>G
NM_001018115.3(FANCD2):c.784-12T>C
NM_001018115.3(FANCD2):c.784-3T>G rs2086891718
NM_001018115.3(FANCD2):c.784G>A (p.Val262Ile)
NM_001018115.3(FANCD2):c.787C>T (p.Arg263Cys)
NM_001018115.3(FANCD2):c.788G>A (p.Arg263His)
NM_001018115.3(FANCD2):c.796_798del (p.Val266del)
NM_001018115.3(FANCD2):c.798G>A (p.Val266=)
NM_001018115.3(FANCD2):c.799A>T (p.Met267Leu)
NM_001018115.3(FANCD2):c.803A>G (p.Asp268Gly)
NM_001018115.3(FANCD2):c.807G>C (p.Lys269Asn)
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del) rs748327074
NM_001018115.3(FANCD2):c.816T>A (p.Ser272=)
NM_001018115.3(FANCD2):c.81A>G (p.Pro27=)
NM_001018115.3(FANCD2):c.823T>C (p.Leu275=)
NM_001018115.3(FANCD2):c.831T>C (p.Asp277=)
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
NM_001018115.3(FANCD2):c.846A>C (p.Ile282=)
NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)
NM_001018115.3(FANCD2):c.853A>G (p.Ile285Val) rs2124991389
NM_001018115.3(FANCD2):c.855T>C (p.Ile285=)
NM_001018115.3(FANCD2):c.875T>G (p.Met292Arg)
NM_001018115.3(FANCD2):c.888+10T>C
NM_001018115.3(FANCD2):c.888+12T>C
NM_001018115.3(FANCD2):c.888+13A>G
NM_001018115.3(FANCD2):c.888+16C>T
NM_001018115.3(FANCD2):c.888+1G>A
NM_001018115.3(FANCD2):c.888+20C>G
NM_001018115.3(FANCD2):c.888+3A>G
NM_001018115.3(FANCD2):c.888+9T>G rs777620616
NM_001018115.3(FANCD2):c.888G>A (p.Glu296=)
NM_001018115.3(FANCD2):c.889-20C>T
NM_001018115.3(FANCD2):c.889-2A>G
NM_001018115.3(FANCD2):c.889-7T>C rs2086903764
NM_001018115.3(FANCD2):c.897T>C (p.Ser299=) rs2124992189
NM_001018115.3(FANCD2):c.905G>A (p.Arg302Gln) rs755797932
NM_001018115.3(FANCD2):c.905G>C (p.Arg302Pro) rs755797932
NM_001018115.3(FANCD2):c.906G>A (p.Arg302=)
NM_001018115.3(FANCD2):c.919C>G (p.Leu307Val) rs1486958347
NM_001018115.3(FANCD2):c.923A>G (p.Gln308Arg)
NM_001018115.3(FANCD2):c.927T>C (p.His309=)
NM_001018115.3(FANCD2):c.929G>T (p.Cys310Phe) rs1251711461
NM_001018115.3(FANCD2):c.92del (p.Lys31fs) rs1378830983
NM_001018115.3(FANCD2):c.944G>A (p.Arg315Gln)
NM_001018115.3(FANCD2):c.945G>A (p.Arg315=) rs2124992319
NM_001018115.3(FANCD2):c.950A>G (p.Gln317Arg)
NM_001018115.3(FANCD2):c.952G>A (p.Ala318Thr)
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_001018115.3(FANCD2):c.95C>T (p.Thr32Ile)
NM_001018115.3(FANCD2):c.962T>G (p.Val321Gly)
NM_001018115.3(FANCD2):c.967T>C (p.Leu323=)
NM_001018115.3(FANCD2):c.969G>A (p.Leu323=)
NM_001018115.3(FANCD2):c.973A>C (p.Ser325Arg) rs2124992404
NM_001018115.3(FANCD2):c.978A>C (p.Lys326Asn) rs200193941
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001018115.3(FANCD2):c.984A>G (p.Arg328=)
NM_001018115.3(FANCD2):c.989+11C>T
NM_001018115.3(FANCD2):c.989+3A>G
NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)
NM_001018115.3(FANCD2):c.990-10C>A
NM_001018115.3(FANCD2):c.990-11G>T
NM_001018115.3(FANCD2):c.990-13C>T
NM_001018115.3(FANCD2):c.990-15C>T
NM_001018115.3(FANCD2):c.990-5T>C
NM_001018115.3(FANCD2):c.996A>C (p.Ser332=)
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_001019.5(RPS15A):c.213G>A (p.Lys71=) rs1567287990
NM_001021.6(RPS17):c.126C>T (p.Pro42=)
NM_001021.6(RPS17):c.156-1G>A
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter) rs6991
NM_001021.6(RPS17):c.1A>G (p.Met1Val)
NM_001021.6(RPS17):c.201_202del (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001021.6(RPS17):c.390G>A (p.Thr130=)
NM_001021.6(RPS17):c.45C>T (p.Val15=)
NM_001021.6(RPS17):c.60del (p.Tyr21fs)
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.3(RPS19):c.-151G>T rs886054466
NM_001022.3(RPS19):c.-190C>G rs1053550637
NM_001022.3(RPS19):c.1-231_173-3418del
NM_001022.3(RPS19):c.[43G>T;164C>T]
NM_001022.4(RPS19):c.-1+26G>T rs74449035
NM_001022.4(RPS19):c.-26C>T rs2074012484
NM_001022.4(RPS19):c.1-9C>T
NM_001022.4(RPS19):c.101del (p.Val34fs)
NM_001022.4(RPS19):c.106A>G (p.Thr36Ala)
NM_001022.4(RPS19):c.108C>T (p.Thr36=)
NM_001022.4(RPS19):c.109G>T (p.Val37Phe)
NM_001022.4(RPS19):c.112A>C (p.Lys38Gln)
NM_001022.4(RPS19):c.114G>A (p.Lys38=)
NM_001022.4(RPS19):c.120C>G (p.Ala40=)
NM_001022.4(RPS19):c.124C>T (p.His42Tyr)
NM_001022.4(RPS19):c.132G>A (p.Glu44=)
NM_001022.4(RPS19):c.13dup (p.Thr5fs) rs149420497
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
NM_001022.4(RPS19):c.141C>T (p.Pro47=)
NM_001022.4(RPS19):c.145G>C (p.Asp49His)
NM_001022.4(RPS19):c.159C>T (p.Phe53=)
NM_001022.4(RPS19):c.15T>A (p.Thr5=) rs2123256038
NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) rs2074020491
NM_001022.4(RPS19):c.172+17T>C
NM_001022.4(RPS19):c.172+5G>C rs886054471
NM_001022.4(RPS19):c.173-16C>T
NM_001022.4(RPS19):c.173-1G>T rs2123283622
NM_001022.4(RPS19):c.173-20C>G
NM_001022.4(RPS19):c.173-20C>T
NM_001022.4(RPS19):c.173-2A>G rs111833764
NM_001022.4(RPS19):c.173-6C>T
NM_001022.4(RPS19):c.173-8_173-7delinsTT rs2123283596
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu) rs1600621092
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
NM_001022.4(RPS19):c.182C>T (p.Ala61Val)
NM_001022.4(RPS19):c.183G>C (p.Ala61=)
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.185G>C (p.Arg62Pro) rs1555841301
NM_001022.4(RPS19):c.191T>C (p.Leu64Pro)
NM_001022.4(RPS19):c.198C>T (p.Leu66=) rs1275070186
NM_001022.4(RPS19):c.199C>T (p.Arg67Trp)
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
NM_001022.4(RPS19):c.1A>G (p.Met1Val) rs2123255913
NM_001022.4(RPS19):c.200G>A (p.Arg67Gln)
NM_001022.4(RPS19):c.207C>T (p.Gly69=)
NM_001022.4(RPS19):c.213G>T (p.Gly71=)
NM_001022.4(RPS19):c.214G>T (p.Val72Phe) rs1600621248
NM_001022.4(RPS19):c.21del (p.Asp8fs)
NM_001022.4(RPS19):c.226A>G (p.Thr76Ala)
NM_001022.4(RPS19):c.245G>A (p.Arg82His) rs782814286
NM_001022.4(RPS19):c.245G>T (p.Arg82Leu)
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter) rs121908649
NM_001022.4(RPS19):c.257dup (p.Val87fs) rs2074118749
NM_001022.4(RPS19):c.25G>A (p.Val9Met)
NM_001022.4(RPS19):c.266C>G (p.Pro89Arg)
NM_001022.4(RPS19):c.279C>T (p.Ser93=)
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.281G>A (p.Arg94Gln)
NM_001022.4(RPS19):c.288C>G (p.Ser96=)
NM_001022.4(RPS19):c.288dup (p.Lys97fs)
NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs) rs2074119405
NM_001022.4(RPS19):c.296_297del (p.Val99fs) rs1555841356
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
NM_001022.4(RPS19):c.303C>T (p.Arg101=)
NM_001022.4(RPS19):c.305G>A (p.Arg102Gln)
NM_001022.4(RPS19):c.307del (p.Val103fs) rs786200935
NM_001022.4(RPS19):c.308T>A (p.Val103Asp) rs1131691437
NM_001022.4(RPS19):c.316del (p.Ala106fs)
NM_001022.4(RPS19):c.317C>T (p.Ala106Val) rs2074119741
NM_001022.4(RPS19):c.320T>C (p.Leu107Pro)
NM_001022.4(RPS19):c.328C>G (p.Leu110Val)
NM_001022.4(RPS19):c.330G>A (p.Leu110=) rs2123284228
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del) rs1064794604
NM_001022.4(RPS19):c.342A>G (p.Glu114=)
NM_001022.4(RPS19):c.347del (p.Asp116fs)
NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)
NM_001022.4(RPS19):c.356+12A>G
NM_001022.4(RPS19):c.356+13G>T
NM_001022.4(RPS19):c.356+14delinsGG
NM_001022.4(RPS19):c.356+15G>A
NM_001022.4(RPS19):c.356+169CT[2] rs369353222
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.356+18G>T rs61762294
NM_001022.4(RPS19):c.356+19G>A
NM_001022.4(RPS19):c.356+1G>A rs879993801
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001022.4(RPS19):c.356+5G>A
NM_001022.4(RPS19):c.357-10C>T
NM_001022.4(RPS19):c.357-2A>G
NM_001022.4(RPS19):c.357-3C>A
NM_001022.4(RPS19):c.357-5C>G rs782129469
NM_001022.4(RPS19):c.358G>A (p.Gly120Ser)
NM_001022.4(RPS19):c.365A>G (p.Lys122Arg)
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) rs1568796003
NM_001022.4(RPS19):c.368T>A (p.Leu123Gln)
NM_001022.4(RPS19):c.373C>A (p.Pro125Thr)
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter) rs1060503688
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
NM_001022.4(RPS19):c.392T>G (p.Leu131Arg)
NM_001022.4(RPS19):c.3G>A (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.3G>C (p.Met1Ile)
NM_001022.4(RPS19):c.3G>T (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.402C>T (p.Ile134=)
NM_001022.4(RPS19):c.403_404del (p.Ala135fs) rs2123285949
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter) rs144337183
NM_001022.4(RPS19):c.409C>T (p.Gln137Ter)
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg) rs782608155
NM_001022.4(RPS19):c.411+11C>T
NM_001022.4(RPS19):c.411+16G>C
NM_001022.4(RPS19):c.411+19G>A
NM_001022.4(RPS19):c.411+20T>G
NM_001022.4(RPS19):c.411+2_411+6del
NM_001022.4(RPS19):c.411+3A>G rs2123286000
NM_001022.4(RPS19):c.411+6G>T
NM_001022.4(RPS19):c.412-2A>G
NM_001022.4(RPS19):c.412-3C>T
NM_001022.4(RPS19):c.412-8_412-1dup rs2123290691
NM_001022.4(RPS19):c.416_423delinsGAAGCATTAG (p.Ala139fs)
NM_001022.4(RPS19):c.49G>A (p.Ala17Thr)
NM_001022.4(RPS19):c.52C>T (p.Leu18=)
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro) rs2074021310
NM_001022.4(RPS19):c.57A>G (p.Ala19=) rs2123256237
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs) rs2123256254
NM_001022.4(RPS19):c.64C>T (p.Leu22Phe)
NM_001022.4(RPS19):c.71+12del rs886054470
NM_001022.4(RPS19):c.71+18G>A
NM_001022.4(RPS19):c.71+1G>C rs2123256342
NM_001022.4(RPS19):c.71+6T>A rs2074021759
NM_001022.4(RPS19):c.71del (p.Lys24fs)
NM_001022.4(RPS19):c.72-10T>G rs1176399879
NM_001022.4(RPS19):c.72-15C>G rs530537278
NM_001022.4(RPS19):c.72-15C>T
NM_001022.4(RPS19):c.72-1G>A rs146366047
NM_001022.4(RPS19):c.72-9T>A
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)
NM_001022.4(RPS19):c.80A>G (p.Lys27Arg)
NM_001022.4(RPS19):c.90C>G (p.Val30=)
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter) rs2074026880
NM_001022.4(RPS19):c.[134_135inv;138_139dup]
NM_001023.4(RPS20):c.251T>A (p.Ile84Asn) rs1809815205
NM_001023.4(RPS20):c.251T>G (p.Ile84Ser) rs1809815205
NM_001029.5(RPS26):c.-130T>G rs1895889933
NM_001029.5(RPS26):c.-149G>T rs886049686
NM_001029.5(RPS26):c.-209T>G rs78108003
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-31C>G rs17118262
NM_001029.5(RPS26):c.-31C>T rs17118262
NM_001029.5(RPS26):c.-9G>T rs372708429
NM_001029.5(RPS26):c.120C>A (p.Val40=)
NM_001029.5(RPS26):c.120C>G (p.Val40=)
NM_001029.5(RPS26):c.129C>T (p.Asn43=)
NM_001029.5(RPS26):c.144A>G (p.Ala48=) rs150715896
NM_001029.5(RPS26):c.144A>T (p.Ala48=)
NM_001029.5(RPS26):c.157A>G (p.Ile53Val) rs1295092646
NM_001029.5(RPS26):c.170G>A (p.Ser57Asn)
NM_001029.5(RPS26):c.181+19C>G rs201040758
NM_001029.5(RPS26):c.181+1G>A
NM_001029.5(RPS26):c.181+1del rs1895903499
NM_001029.5(RPS26):c.181+6_181+7del rs746906342
NM_001029.5(RPS26):c.181+8G>C
NM_001029.5(RPS26):c.182-16_182-15del
NM_001029.5(RPS26):c.182-16_182-4del
NM_001029.5(RPS26):c.182-20C>T
NM_001029.5(RPS26):c.182-9A>G
NM_001029.5(RPS26):c.183C>G (p.Ala61=)
NM_001029.5(RPS26):c.196A>T (p.Lys66Ter) rs1895918140
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu) rs143951267
NM_001029.5(RPS26):c.201G>A (p.Leu67=) rs1371451613
NM_001029.5(RPS26):c.213A>G (p.Leu71=)
NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)
NM_001029.5(RPS26):c.224_225del (p.Val75fs) rs1555208596
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.266G>C (p.Arg89Pro) rs764673368
NM_001029.5(RPS26):c.274C>T (p.Arg92Cys)
NM_001029.5(RPS26):c.288A>G (p.Thr96=)
NM_001029.5(RPS26):c.2T>A (p.Met1Lys)
NM_001029.5(RPS26):c.2T>C (p.Met1Thr)
NM_001029.5(RPS26):c.2T>G (p.Met1Arg) rs1895894261
NM_001029.5(RPS26):c.3+10C>T
NM_001029.5(RPS26):c.3+12T>C
NM_001029.5(RPS26):c.3+13G>T rs199917474
NM_001029.5(RPS26):c.3+14C>A
NM_001029.5(RPS26):c.3+14C>G rs763770729
NM_001029.5(RPS26):c.3+1G>A rs148622862
NM_001029.5(RPS26):c.3+1G>T
NM_001029.5(RPS26):c.3+2T>G rs2136753495
NM_001029.5(RPS26):c.3+4A>C
NM_001029.5(RPS26):c.3+5G>C
NM_001029.5(RPS26):c.3+7C>G rs115750993
NM_001029.5(RPS26):c.3+7C>T rs115750993
NM_001029.5(RPS26):c.3+9T>A rs545595719
NM_001029.5(RPS26):c.312+1G>C
NM_001029.5(RPS26):c.312+2T>A rs1593023809
NM_001029.5(RPS26):c.312+3G>A
NM_001029.5(RPS26):c.312+7A>G
NM_001029.5(RPS26):c.313-10dup
NM_001029.5(RPS26):c.313-17_313-14del rs771654280
NM_001029.5(RPS26):c.313-2A>G
NM_001029.5(RPS26):c.313-7C>T
NM_001029.5(RPS26):c.317C>G (p.Ala106Gly)
NM_001029.5(RPS26):c.31dup (p.Ala11fs) rs786200892
NM_001029.5(RPS26):c.327T>C (p.Arg109=) rs56696262
NM_001029.5(RPS26):c.328C>T (p.Pro110Ser)
NM_001029.5(RPS26):c.332C>T (p.Pro111Leu)
NM_001029.5(RPS26):c.333A>T (p.Pro111=) rs1179423823
NM_001029.5(RPS26):c.336A>G (p.Pro112=)
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
NM_001029.5(RPS26):c.4-10C>T
NM_001029.5(RPS26):c.4-13C>T rs962158538
NM_001029.5(RPS26):c.4-1_6del
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001029.5(RPS26):c.4-4G>T rs2136753773
NM_001029.5(RPS26):c.4-7G>C rs1288899882
NM_001029.5(RPS26):c.4-8_4-7delinsCT
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001029.5(RPS26):c.61A>C (p.Ile21Leu) rs1392801928
NM_001029.5(RPS26):c.64C>G (p.Arg22Gly) rs762701251
NM_001029.5(RPS26):c.65G>A (p.Arg22His)
NM_001029.5(RPS26):c.67T>C (p.Cys23Arg)
NM_001029.5(RPS26):c.70A>G (p.Thr24Ala)
NM_001029.5(RPS26):c.73_76del (p.Asn25fs) rs2136753850
NM_001029.5(RPS26):c.77G>A (p.Cys26Tyr)
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)
NM_001029.5(RPS26):c.88del (p.Val30fs)
NM_001029.5(RPS26):c.93C>G (p.Pro31=)
NM_001029.5(RPS26):c.95A>C (p.Lys32Thr)
NM_001029.5(RPS26):c.96G>A (p.Lys32=) rs1472827120
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) rs267607023
NM_001029.5(RPS26):c.9G>C (p.Lys3Asn)
NM_001029.5(RPS26):c.9_12del (p.Lys4fs) rs2136753785
NM_001030.6(RPS27):c.116-45_116-44dup rs35506293
NM_001030.6(RPS27):c.90del (p.Tyr31fs) rs1085307115
NM_001031.5(RPS28):c.1A>G (p.Met1Val) rs786203997
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032.5(RPS29):c.163-4del rs373877728
NM_001032.5(RPS29):c.63-6T>G rs1594573747
NM_001032.5(RPS29):c.91A>T (p.Ile31Phe) rs587777568
NM_001040436.2(YARS2):c.-31A>G rs557243101
NM_001040436.3(YARS2):c.*377G>A rs1955646004
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.1104-16dup rs761612441
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) rs587777215
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) rs587777213
NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg) rs1955656296
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001040436.3(YARS2):c.30C>T (p.Ser10=) rs886049305
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) rs886049304
NM_001040436.3(YARS2):c.359dup (p.Asp121fs) rs797045077
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) rs11539445
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr) rs772348768
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)
NM_001042351.1(G6PD):c.[317C>G;544C>T;592C>T]
NM_001042351.1(G6PD):c.[376A>G;542A>T]
NM_001042351.3(G6PD):c.-9+2T>G
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys) rs772470710
NM_001063.4(TF):c.*81A>G rs886058015
NM_001063.4(TF):c.1429G>C (p.Ala477Pro) rs121918679
NM_001063.4(TF):c.142G>A (p.Val48Ile) rs144636315
NM_001063.4(TF):c.1444C>T (p.Pro482Ser) rs2107925842
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_001063.4(TF):c.1825C>T (p.Arg609Trp) rs773139494
NM_001063.4(TF):c.2063-11_2063-10del rs2107937266
NM_001063.4(TF):c.562_564delinsAA (p.Gln188fs)
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.10011A>G (p.Leu3337=)
NM_001081.4(CUBN):c.10032+9T>C
NM_001081.4(CUBN):c.10033-15C>T
NM_001081.4(CUBN):c.10033-1G>A
NM_001081.4(CUBN):c.1003G>C (p.Ala335Pro)
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.10097C>G (p.Ser3366Cys)
NM_001081.4(CUBN):c.10115T>C (p.Met3372Thr)
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys) rs1839164438
NM_001081.4(CUBN):c.1015+11G>A
NM_001081.4(CUBN):c.1015+17A>T
NM_001081.4(CUBN):c.1015+1G>A
NM_001081.4(CUBN):c.1015+8C>T
NM_001081.4(CUBN):c.1016-14C>T
NM_001081.4(CUBN):c.1016-18G>A
NM_001081.4(CUBN):c.10176T>G (p.Ile3392Met)
NM_001081.4(CUBN):c.10181-9del
NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter) rs147730705
NM_001081.4(CUBN):c.10246G>A (p.Asp3416Asn)
NM_001081.4(CUBN):c.10250A>G (p.Asn3417Ser)
NM_001081.4(CUBN):c.10266C>T (p.Thr3422=)
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.4(CUBN):c.10295C>T (p.Thr3432Ile) rs7898873
NM_001081.4(CUBN):c.1029C>T (p.Asp343=)
NM_001081.4(CUBN):c.10311dup (p.His3438fs)
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10380C>T (p.Asn3460=)
NM_001081.4(CUBN):c.10383C>A (p.Ser3461Arg)
NM_001081.4(CUBN):c.10397T>A (p.Leu3466Gln)
NM_001081.4(CUBN):c.10425A>G (p.Pro3475=)
NM_001081.4(CUBN):c.10458C>T (p.Tyr3486=)
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.10463G>A (p.Arg3488Gln)
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.4(CUBN):c.1047C>T (p.Leu349=)
NM_001081.4(CUBN):c.1049C>T (p.Thr350Ile)
NM_001081.4(CUBN):c.10503A>G (p.Glu3501=)
NM_001081.4(CUBN):c.10513A>G (p.Thr3505Ala)
NM_001081.4(CUBN):c.10520C>A (p.Ser3507Ter)
NM_001081.4(CUBN):c.10524C>T (p.Pro3508=)
NM_001081.4(CUBN):c.10526C>G (p.Ser3509Cys)
NM_001081.4(CUBN):c.10528+1G>A
NM_001081.4(CUBN):c.10529-3C>T rs1838885191
NM_001081.4(CUBN):c.10544T>C (p.Leu3515Pro)
NM_001081.4(CUBN):c.10547A>T (p.Tyr3516Phe)
NM_001081.4(CUBN):c.10557_10558del (p.Gly3520fs)
NM_001081.4(CUBN):c.10591T>C (p.Tyr3531His) rs1388282481
NM_001081.4(CUBN):c.10612G>A (p.Glu3538Lys) rs756614749
NM_001081.4(CUBN):c.10644T>A (p.Leu3548=)
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.10680T>C (p.Asp3560=)
NM_001081.4(CUBN):c.10695C>G (p.Val3565=)
NM_001081.4(CUBN):c.10727A>G (p.Asn3576Ser)
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys) rs368511477
NM_001081.4(CUBN):c.10728C>T (p.Asn3576=)
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
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.10758C>T (p.Cys3586=)
NM_001081.4(CUBN):c.10764+11C>T rs2131299503
NM_001081.4(CUBN):c.10764+16A>G
NM_001081.4(CUBN):c.10765-10dup
NM_001081.4(CUBN):c.10765-18T>A
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr) rs1838734881
NM_001081.4(CUBN):c.10798A>C (p.Asn3600His) rs763168436
NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.1088A>C (p.Asp363Ala)
NM_001081.4(CUBN):c.1088A>G (p.Asp363Gly) rs138044409
NM_001081.4(CUBN):c.1107T>A (p.Thr369=)
NM_001081.4(CUBN):c.1110A>C (p.Leu370=) rs886046878
NM_001081.4(CUBN):c.1111+11A>G
NM_001081.4(CUBN):c.1127G>A (p.Cys376Tyr) rs2131302483
NM_001081.4(CUBN):c.1185C>T (p.Leu395=)
NM_001081.4(CUBN):c.1186A>G (p.Ser396Gly)
NM_001081.4(CUBN):c.1210T>G (p.Cys404Gly) rs2131302341
NM_001081.4(CUBN):c.122+14T>C
NM_001081.4(CUBN):c.122+7A>G
NM_001081.4(CUBN):c.1220G>A (p.Gly407Glu)
NM_001081.4(CUBN):c.123-11G>T
NM_001081.4(CUBN):c.123-16C>T rs2281648
NM_001081.4(CUBN):c.123-4A>G
NM_001081.4(CUBN):c.1230+18C>G
NM_001081.4(CUBN):c.1230+1G>A rs386833766
NM_001081.4(CUBN):c.1230+20T>C
NM_001081.4(CUBN):c.1231-10T>C
NM_001081.4(CUBN):c.1231-9T>C
NM_001081.4(CUBN):c.1231-9del
NM_001081.4(CUBN):c.128G>A (p.Arg43Gln)
NM_001081.4(CUBN):c.1301A>G (p.Asn434Ser)
NM_001081.4(CUBN):c.1342G>A (p.Val448Ile) rs2131301048
NM_001081.4(CUBN):c.1378C>T (p.Arg460Cys)
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1418-16A>T
NM_001081.4(CUBN):c.1427A>G (p.Glu476Gly)
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter) rs386833767
NM_001081.4(CUBN):c.1474G>T (p.Val492Phe) rs753563615
NM_001081.4(CUBN):c.1479T>C (p.Gly493=)
NM_001081.4(CUBN):c.1512C>G (p.Ile504Met)
NM_001081.4(CUBN):c.1523T>C (p.Met508Thr)
NM_001081.4(CUBN):c.1526del (p.Gly509fs) rs386833768
NM_001081.4(CUBN):c.1530+14C>A
NM_001081.4(CUBN):c.1530G>A (p.Lys510=) rs386833769
NM_001081.4(CUBN):c.1537C>T (p.Arg513Cys)
NM_001081.4(CUBN):c.1538G>A (p.Arg513His)
NM_001081.4(CUBN):c.1543A>T (p.Thr515Ser)
NM_001081.4(CUBN):c.1547T>C (p.Phe516Ser)
NM_001081.4(CUBN):c.1553T>C (p.Phe518Ser) rs2131296213
NM_001081.4(CUBN):c.1559G>T (p.Arg520Leu)
NM_001081.4(CUBN):c.1586A>G (p.His529Arg)
NM_001081.4(CUBN):c.1616C>T (p.Ser539Phe)
NM_001081.4(CUBN):c.1634T>G (p.Leu545Arg)
NM_001081.4(CUBN):c.1662T>A (p.Pro554=) rs2131296039
NM_001081.4(CUBN):c.1674C>T (p.Leu558=)
NM_001081.4(CUBN):c.1688C>T (p.Ala563Val) rs2131295988
NM_001081.4(CUBN):c.1739C>G (p.Thr580Arg)
NM_001081.4(CUBN):c.1752A>T (p.Glu584Asp)
NM_001081.4(CUBN):c.1765+12C>A
NM_001081.4(CUBN):c.1766-10C>G rs2131869671
NM_001081.4(CUBN):c.1766-14C>T
NM_001081.4(CUBN):c.1788T>C (p.Gly596=)
NM_001081.4(CUBN):c.1795G>A (p.Gly599Ser)
NM_001081.4(CUBN):c.1805A>T (p.Lys602Met)
NM_001081.4(CUBN):c.181A>T (p.Ile61Phe)
NM_001081.4(CUBN):c.1833C>T (p.Pro611=) rs1215660752
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg) rs2131869531
NM_001081.4(CUBN):c.1838del (p.Gly613fs) rs386833770
NM_001081.4(CUBN):c.1844A>G (p.Asp615Gly)
NM_001081.4(CUBN):c.1887A>G (p.Thr629=) rs2131869453
NM_001081.4(CUBN):c.1892del (p.Thr631fs) rs2131869439
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.1915C>A (p.His639Asn) rs370816201
NM_001081.4(CUBN):c.1924G>A (p.Asp642Asn)
NM_001081.4(CUBN):c.192A>G (p.Arg64=)
NM_001081.4(CUBN):c.1942C>T (p.Leu648Phe) rs2131869310
NM_001081.4(CUBN):c.1947+19A>G
NM_001081.4(CUBN):c.1948-7G>C
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter) rs182512508
NM_001081.4(CUBN):c.1952G>A (p.Arg651Gln)
NM_001081.4(CUBN):c.1953A>C (p.Arg651=) rs2131865611
NM_001081.4(CUBN):c.1965G>A (p.Leu655=)
NM_001081.4(CUBN):c.1997C>T (p.Thr666Ile)
NM_001081.4(CUBN):c.2015C>G (p.Pro672Arg) rs776433038
NM_001081.4(CUBN):c.2015C>T (p.Pro672Leu)
NM_001081.4(CUBN):c.2032C>G (p.Pro678Ala) rs1348130743
NM_001081.4(CUBN):c.2067G>A (p.Gln689=)
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val) rs386833772
NM_001081.4(CUBN):c.2077C>G (p.Gln693Glu) rs2131865388
NM_001081.4(CUBN):c.2087A>G (p.His696Arg)
NM_001081.4(CUBN):c.2096A>G (p.Tyr699Cys)
NM_001081.4(CUBN):c.2110+10C>A rs752409034
NM_001081.4(CUBN):c.2110+10C>G rs752409034
NM_001081.4(CUBN):c.2110+17T>C
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala) rs2131865310
NM_001081.4(CUBN):c.2111-15C>G
NM_001081.4(CUBN):c.2111-19G>A
NM_001081.4(CUBN):c.2111-20C>T
NM_001081.4(CUBN):c.2111-5C>T
NM_001081.4(CUBN):c.2132A>G (p.Asn711Ser)
NM_001081.4(CUBN):c.2139G>A (p.Thr713=)
NM_001081.4(CUBN):c.2145A>G (p.Pro715=)
NM_001081.4(CUBN):c.2151T>C (p.Gly717=) rs1836053318
NM_001081.4(CUBN):c.2157C>G (p.Leu719=) rs2131863775
NM_001081.4(CUBN):c.2184C>T (p.Phe728=) rs1836051485
NM_001081.4(CUBN):c.2191_2192del (p.Thr731fs) rs2131863686
NM_001081.4(CUBN):c.2257G>A (p.Val753Met)
NM_001081.4(CUBN):c.2258T>A (p.Val753Glu)
NM_001081.4(CUBN):c.2275A>G (p.Ser759Gly)
NM_001081.4(CUBN):c.2301+10A>T rs1371114573
NM_001081.4(CUBN):c.2301+18A>G rs202001092
NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter) rs776704427
NM_001081.4(CUBN):c.2322A>C (p.Leu774Phe)
NM_001081.4(CUBN):c.2329A>G (p.Lys777Glu)
NM_001081.4(CUBN):c.2343C>T (p.Asn781=)
NM_001081.4(CUBN):c.2349C>G (p.Thr783=)
NM_001081.4(CUBN):c.2446+14T>C
NM_001081.4(CUBN):c.2446+14_2446+15del rs752528712
NM_001081.4(CUBN):c.2446+9A>G
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001081.4(CUBN):c.2447-15T>A rs886046877
NM_001081.4(CUBN):c.2447-20T>G
NM_001081.4(CUBN):c.2447-9T>C
NM_001081.4(CUBN):c.2451C>T (p.Cys817=)
NM_001081.4(CUBN):c.2461T>G (p.Leu821Val)
NM_001081.4(CUBN):c.2470G>A (p.Glu824Lys)
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu) rs386833773
NM_001081.4(CUBN):c.2490T>A (p.Pro830=)
NM_001081.4(CUBN):c.2493T>C (p.Phe831=)
NM_001081.4(CUBN):c.2495T>G (p.Phe832Cys)
NM_001081.4(CUBN):c.2502C>T (p.Asn834=)
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter) rs386833774
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.4(CUBN):c.252+1G>A rs386833776
NM_001081.4(CUBN):c.2527A>T (p.Arg843Trp)
NM_001081.4(CUBN):c.253-16C>A
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2632A>G (p.Ser878Gly) rs563114115
NM_001081.4(CUBN):c.2637T>C (p.Ser879=)
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.2726C>T (p.Thr909Ile)
NM_001081.4(CUBN):c.2733G>T (p.Val911=)
NM_001081.4(CUBN):c.2763C>T (p.Phe921=)
NM_001081.4(CUBN):c.2779G>A (p.Ala927Thr)
NM_001081.4(CUBN):c.2790G>C (p.Leu930Phe)
NM_001081.4(CUBN):c.2791+16dup
NM_001081.4(CUBN):c.2791+19T>C
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.2792-1G>T rs2131845016
NM_001081.4(CUBN):c.2793A>G (p.Ala931=)
NM_001081.4(CUBN):c.2796T>C (p.Cys932=)
NM_001081.4(CUBN):c.2810C>G (p.Thr937Arg) rs200383906
NM_001081.4(CUBN):c.2829T>C (p.Ile943=)
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.2860C>G (p.His954Asp)
NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)
NM_001081.4(CUBN):c.2870A>G (p.Asn957Ser)
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter) rs386833779
NM_001081.4(CUBN):c.2951A>G (p.Asn984Ser) rs200851536
NM_001081.4(CUBN):c.2980G>T (p.Asp994Tyr)
NM_001081.4(CUBN):c.2985C>T (p.Thr995=)
NM_001081.4(CUBN):c.3008+2_3008+5del rs2131844654
NM_001081.4(CUBN):c.3008+9_3008+12dup rs772081536
NM_001081.4(CUBN):c.3024G>A (p.Ser1008=)
NM_001081.4(CUBN):c.3027C>T (p.Ile1009=)
NM_001081.4(CUBN):c.302G>A (p.Gly101Asp)
NM_001081.4(CUBN):c.3049G>A (p.Gly1017Ser) rs1207798792
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter) rs386833780
NM_001081.4(CUBN):c.3058T>C (p.Leu1020=)
NM_001081.4(CUBN):c.3085G>A (p.Asp1029Asn)
NM_001081.4(CUBN):c.3105C>T (p.Phe1035=) rs2131842230
NM_001081.4(CUBN):c.312A>G (p.Gln104=)
NM_001081.4(CUBN):c.3138del (p.Ala1047fs)
NM_001081.4(CUBN):c.3139+15T>C
NM_001081.4(CUBN):c.313A>G (p.Asn105Asp)
NM_001081.4(CUBN):c.3140-19G>A
NM_001081.4(CUBN):c.3143G>A (p.Cys1048Tyr)
NM_001081.4(CUBN):c.3210C>A (p.Asn1070Lys)
NM_001081.4(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.4(CUBN):c.3230G>A (p.Arg1077Gln) rs184585798
NM_001081.4(CUBN):c.3238G>A (p.Val1080Met) rs2131822280
NM_001081.4(CUBN):c.3329+12_3329+16del
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3329+8C>A
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001081.4(CUBN):c.3412A>C (p.Lys1138Gln) rs1325425384
NM_001081.4(CUBN):c.3443T>C (p.Ile1148Thr)
NM_001081.4(CUBN):c.3447C>T (p.Asp1149=)
NM_001081.4(CUBN):c.3464C>T (p.Ser1155Leu)
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.3477T>C (p.Asp1159=) rs2131820566
NM_001081.4(CUBN):c.348+18G>A
NM_001081.4(CUBN):c.349-13T>G
NM_001081.4(CUBN):c.3490+16C>G
NM_001081.4(CUBN):c.349C>A (p.Leu117Met) rs1588661287
NM_001081.4(CUBN):c.3528C>T (p.Phe1176=)
NM_001081.4(CUBN):c.3531A>T (p.Ile1177=)
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.4(CUBN):c.3570A>G (p.Glu1190=)
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly) rs386833783
NM_001081.4(CUBN):c.3578G>A (p.Trp1193Ter)
NM_001081.4(CUBN):c.3603C>T (p.Ser1201=)
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.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.3649A>G (p.Asn1217Asp)
NM_001081.4(CUBN):c.3672+17C>T
NM_001081.4(CUBN):c.3718T>G (p.Cys1240Gly)
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe) rs386833784
NM_001081.4(CUBN):c.3783A>G (p.Thr1261=)
NM_001081.4(CUBN):c.3823C>A (p.Arg1275=)
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3829+1G>A
NM_001081.4(CUBN):c.382C>T (p.Gln128Ter) rs374695194
NM_001081.4(CUBN):c.3830-15C>T
NM_001081.4(CUBN):c.3832T>C (p.Cys1278Arg)
NM_001081.4(CUBN):c.3844G>A (p.Val1282Ile)
NM_001081.4(CUBN):c.387+11dup
NM_001081.4(CUBN):c.387+16C>T rs766616600
NM_001081.4(CUBN):c.3894T>A (p.Asn1298Lys)
NM_001081.4(CUBN):c.3907A>C (p.Asn1303His)
NM_001081.4(CUBN):c.3927C>A (p.Thr1309=)
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val) rs1325181765
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr) rs1588604587
NM_001081.4(CUBN):c.3931C>G (p.Arg1311Gly)
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp) rs776683073
NM_001081.4(CUBN):c.397A>G (p.Lys133Glu)
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.4(CUBN):c.400A>G (p.Lys134Glu)
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.4(CUBN):c.4033C>T (p.Arg1345Trp)
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.4094A>G (p.Lys1365Arg) rs2131782772
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4104G>T (p.Val1368=) rs1480495431
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg) rs386833786
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4168+17T>A
NM_001081.4(CUBN):c.4169-13del
NM_001081.4(CUBN):c.4169-15T>C
NM_001081.4(CUBN):c.4169-17C>A
NM_001081.4(CUBN):c.4169-18A>G
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.4223C>G (p.Pro1408Arg)
NM_001081.4(CUBN):c.424C>T (p.Gln142Ter) rs765941616
NM_001081.4(CUBN):c.4264A>G (p.Arg1422Gly)
NM_001081.4(CUBN):c.4269G>A (p.Thr1423=)
NM_001081.4(CUBN):c.4276G>A (p.Gly1426Arg)
NM_001081.4(CUBN):c.4280G>C (p.Ser1427Thr) rs754229455
NM_001081.4(CUBN):c.4283G>C (p.Ser1428Thr)
NM_001081.4(CUBN):c.4302T>C (p.His1434=) rs2131715844
NM_001081.4(CUBN):c.4308C>T (p.Phe1436=)
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu) rs386833788
NM_001081.4(CUBN):c.4350+2T>C rs371489485
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4350+8G>A
NM_001081.4(CUBN):c.4351-1G>C
NM_001081.4(CUBN):c.4362C>G (p.Gly1454=)
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)
NM_001081.4(CUBN):c.4426C>G (p.Gln1476Glu) rs867893935
NM_001081.4(CUBN):c.4448A>C (p.Glu1483Ala)
NM_001081.4(CUBN):c.4460G>A (p.Arg1487Gln)
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.4461A>T (p.Arg1487=)
NM_001081.4(CUBN):c.4468A>T (p.Thr1490Ser) rs2131700976
NM_001081.4(CUBN):c.4502C>A (p.Ala1501Glu)
NM_001081.4(CUBN):c.4526-10C>T
NM_001081.4(CUBN):c.4526-9C>A rs752803274
NM_001081.4(CUBN):c.4526-9del
NM_001081.4(CUBN):c.4529G>A (p.Cys1510Tyr)
NM_001081.4(CUBN):c.4562_4563delinsCA (p.Ile1521Thr)
NM_001081.4(CUBN):c.4586C>G (p.Pro1529Arg) rs1251118545
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His) rs1391948790
NM_001081.4(CUBN):c.463T>G (p.Phe155Val) rs2131324118
NM_001081.4(CUBN):c.4640G>A (p.Arg1547His)
NM_001081.4(CUBN):c.4668T>C (p.Asp1556=)
NM_001081.4(CUBN):c.4676C>A (p.Pro1559Gln)
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.4695+5G>A
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val) rs1482983523
NM_001081.4(CUBN):c.4727G>A (p.Arg1576His)
NM_001081.4(CUBN):c.475C>A (p.Pro159Thr)
NM_001081.4(CUBN):c.4771G>C (p.Val1591Leu)
NM_001081.4(CUBN):c.4799G>A (p.Arg1600Lys)
NM_001081.4(CUBN):c.4806G>A (p.Gln1602=)
NM_001081.4(CUBN):c.4815T>C (p.Pro1605=) rs1588515934
NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)
NM_001081.4(CUBN):c.4844A>G (p.Gln1615Arg)
NM_001081.4(CUBN):c.4855+20T>C
NM_001081.4(CUBN):c.4856-13G>C
NM_001081.4(CUBN):c.4856-16T>C rs2131629888
NM_001081.4(CUBN):c.4869C>T (p.His1623=)
NM_001081.4(CUBN):c.4877C>T (p.Thr1626Ile)
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.489+2_489+4dup rs1588658746
NM_001081.4(CUBN):c.489+3G>A rs555885592
NM_001081.4(CUBN):c.489G>A (p.Lys163=) rs386833789
NM_001081.4(CUBN):c.490-4A>T
NM_001081.4(CUBN):c.490-8G>A
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.4969+2T>G
NM_001081.4(CUBN):c.496C>T (p.Leu166Phe)
NM_001081.4(CUBN):c.4970-16C>T
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.4A>G (p.Met2Val)
NM_001081.4(CUBN):c.5005C>A (p.Leu1669Ile)
NM_001081.4(CUBN):c.5022G>A (p.Thr1674=) rs528059511
NM_001081.4(CUBN):c.5070G>A (p.Ala1690=)
NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)
NM_001081.4(CUBN):c.5080+11G>A
NM_001081.4(CUBN):c.5080+9_5080+19del
NM_001081.4(CUBN):c.5149G>T (p.Val1717Phe)
NM_001081.4(CUBN):c.5170G>A (p.Ala1724Thr)
NM_001081.4(CUBN):c.5173G>A (p.Gly1725Arg)
NM_001081.4(CUBN):c.517G>A (p.Glu173Lys)
NM_001081.4(CUBN):c.5191G>C (p.Val1731Leu)
NM_001081.4(CUBN):c.5197G>A (p.Ala1733Thr)
NM_001081.4(CUBN):c.5215G>A (p.Gly1739Ser) rs2131619882
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys) rs144943516
NM_001081.4(CUBN):c.5249A>G (p.Asn1750Ser)
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.5302_5304del (p.Ile1768del) rs775161946
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.5307C>T (p.Val1769=)
NM_001081.4(CUBN):c.5317G>T (p.Gly1773Cys)
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001081.4(CUBN):c.5338T>C (p.Phe1780Leu)
NM_001081.4(CUBN):c.5342+20G>A
NM_001081.4(CUBN):c.5343-10C>T
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-12del
NM_001081.4(CUBN):c.5343-6A>G rs776579478
NM_001081.4(CUBN):c.5343-7dup rs754346653
NM_001081.4(CUBN):c.5351A>G (p.Gln1784Arg)
NM_001081.4(CUBN):c.5411C>T (p.Thr1804Met)
NM_001081.4(CUBN):c.5412G>A (p.Thr1804=)
NM_001081.4(CUBN):c.5434T>C (p.Cys1812Arg)
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5521A>T (p.Thr1841Ser)
NM_001081.4(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5600T>C (p.Phe1867Ser)
NM_001081.4(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.4(CUBN):c.5626T>G (p.Ser1876Ala)
NM_001081.4(CUBN):c.5672A>G (p.His1891Arg)
NM_001081.4(CUBN):c.5677A>G (p.Arg1893Gly)
NM_001081.4(CUBN):c.5701G>T (p.Glu1901Ter)
NM_001081.4(CUBN):c.5733+15G>A
NM_001081.4(CUBN):c.5733+9C>T
NM_001081.4(CUBN):c.5738A>G (p.Tyr1913Cys)
NM_001081.4(CUBN):c.5752A>G (p.Ile1918Val) rs1842556433
NM_001081.4(CUBN):c.5783G>T (p.Gly1928Val)
NM_001081.4(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5856del (p.Lys1954fs)
NM_001081.4(CUBN):c.5871T>C (p.Leu1957=)
NM_001081.4(CUBN):c.5875G>A (p.Glu1959Lys)
NM_001081.4(CUBN):c.5890G>A (p.Asp1964Asn)
NM_001081.4(CUBN):c.5893G>A (p.Ala1965Thr)
NM_001081.4(CUBN):c.5904T>A (p.Gly1968=)
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.5927-14T>C
NM_001081.4(CUBN):c.5927-19G>A
NM_001081.4(CUBN):c.5931T>C (p.Ala1977=)
NM_001081.4(CUBN):c.594-16C>T
NM_001081.4(CUBN):c.594-18C>T rs1836875187
NM_001081.4(CUBN):c.5943C>A (p.Phe1981Leu)
NM_001081.4(CUBN):c.5951C>T (p.Thr1984Met)
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met) rs368951850
NM_001081.4(CUBN):c.5973C>T (p.Leu1991=)
NM_001081.4(CUBN):c.5979C>T (p.Ser1993=) rs2131594919
NM_001081.4(CUBN):c.5982G>C (p.Pro1994=)
NM_001081.4(CUBN):c.5985C>A (p.Gly1995=)
NM_001081.4(CUBN):c.6011T>G (p.Val2004Gly)
NM_001081.4(CUBN):c.6047C>T (p.Thr2016Ile)
NM_001081.4(CUBN):c.6049G>A (p.Val2017Met)
NM_001081.4(CUBN):c.6077T>C (p.Ile2026Thr) rs2131594633
NM_001081.4(CUBN):c.6093G>A (p.Thr2031=) rs141470763
NM_001081.4(CUBN):c.6114G>C (p.Val2038=)
NM_001081.4(CUBN):c.6118C>A (p.Arg2040=) rs770636895
NM_001081.4(CUBN):c.6118C>T (p.Arg2040Ter)
NM_001081.4(CUBN):c.6125-4G>A
NM_001081.4(CUBN):c.6127G>A (p.Asp2043Asn)
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
NM_001081.4(CUBN):c.615G>T (p.Thr205=)
NM_001081.4(CUBN):c.6178G>C (p.Gly2060Arg)
NM_001081.4(CUBN):c.6188G>A (p.Arg2063Gln)
NM_001081.4(CUBN):c.6201G>A (p.Glu2067=)
NM_001081.4(CUBN):c.6228C>G (p.Asp2076Glu)
NM_001081.4(CUBN):c.622C>T (p.Pro208Ser)
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.6256G>A (p.Ala2086Thr)
NM_001081.4(CUBN):c.6261C>T (p.Ser2087=)
NM_001081.4(CUBN):c.6271+12A>G
NM_001081.4(CUBN):c.6272-7T>A rs1333033381
NM_001081.4(CUBN):c.6272-8G>C
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)
NM_001081.4(CUBN):c.6318C>T (p.Pro2106=)
NM_001081.4(CUBN):c.6340T>C (p.Ser2114Pro)
NM_001081.4(CUBN):c.6363C>T (p.His2121=)
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
NM_001081.4(CUBN):c.6439T>C (p.Cys2147Arg)
NM_001081.4(CUBN):c.645C>T (p.Asp215=)
NM_001081.4(CUBN):c.6462+7C>T
NM_001081.4(CUBN):c.6463-4C>G rs2131581949
NM_001081.4(CUBN):c.6464T>C (p.Leu2155Pro) rs2131581941
NM_001081.4(CUBN):c.6482T>A (p.Ile2161Asn)
NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)
NM_001081.4(CUBN):c.6504C>A (p.Pro2168=)
NM_001081.4(CUBN):c.6533G>T (p.Ser2178Ile)
NM_001081.4(CUBN):c.6547A>G (p.Thr2183Ala)
NM_001081.4(CUBN):c.6630T>C (p.Tyr2210=) rs2131479100
NM_001081.4(CUBN):c.6641G>A (p.Ser2214Asn)
NM_001081.4(CUBN):c.6646+18G>T
NM_001081.4(CUBN):c.6647-19T>C
NM_001081.4(CUBN):c.6647-5C>G
NM_001081.4(CUBN):c.6696G>A (p.Val2232=)
NM_001081.4(CUBN):c.66T>C (p.Asn22=)
NM_001081.4(CUBN):c.6707A>G (p.Asn2236Ser)
NM_001081.4(CUBN):c.6716A>G (p.His2239Arg)
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser) rs386833790
NM_001081.4(CUBN):c.6749T>G (p.Ile2250Ser)
NM_001081.4(CUBN):c.6755C>T (p.Ala2252Val)
NM_001081.4(CUBN):c.6797G>A (p.Arg2266Gln) rs1437222146
NM_001081.4(CUBN):c.6822-1G>A
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.6848G>A (p.Arg2283Gln)
NM_001081.4(CUBN):c.6856G>A (p.Val2286Met)
NM_001081.4(CUBN):c.685A>G (p.Ile229Val)
NM_001081.4(CUBN):c.6864G>A (p.Ser2288=)
NM_001081.4(CUBN):c.6871C>T (p.Pro2291Ser)
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6906C>A (p.Pro2302=)
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.6950G>A (p.Arg2317Gln)
NM_001081.4(CUBN):c.69C>T (p.Gly23=)
NM_001081.4(CUBN):c.7000+7A>T
NM_001081.4(CUBN):c.7001-19T>C
NM_001081.4(CUBN):c.7001-2A>T rs2131458620
NM_001081.4(CUBN):c.7001-2del rs756427983
NM_001081.4(CUBN):c.7005G>A (p.Gln2335=)
NM_001081.4(CUBN):c.7007G>A (p.Cys2336Tyr) rs1413359792
NM_001081.4(CUBN):c.7013del (p.Gly2338fs) rs1588646655
NM_001081.4(CUBN):c.7037TTG[1] (p.Val2347del) rs1279549461
NM_001081.4(CUBN):c.7049T>C (p.Ile2350Thr)
NM_001081.4(CUBN):c.7051G>T (p.Gly2351Ter) rs2131458386
NM_001081.4(CUBN):c.7096C>A (p.His2366Asn) rs1261134940
NM_001081.4(CUBN):c.7105G>A (p.Gly2369Arg)
NM_001081.4(CUBN):c.7126A>G (p.Thr2376Ala) rs2131458000
NM_001081.4(CUBN):c.7145_7146del (p.Asp2381_Phe2382insTer)
NM_001081.4(CUBN):c.7179C>T (p.Asp2393=)
NM_001081.4(CUBN):c.7182C>T (p.Phe2394=)
NM_001081.4(CUBN):c.720+20G>A
NM_001081.4(CUBN):c.720+8C>T
NM_001081.4(CUBN):c.7251C>G (p.Asp2417Glu)
NM_001081.4(CUBN):c.7291G>T (p.Val2431Phe)
NM_001081.4(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.4(CUBN):c.731G>A (p.Ser244Asn)
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.4(CUBN):c.7346T>G (p.Met2449Arg) rs41301097
NM_001081.4(CUBN):c.7352-6C>T
NM_001081.4(CUBN):c.7352-7A>C rs886046869
NM_001081.4(CUBN):c.7379T>C (p.Ile2460Thr)
NM_001081.4(CUBN):c.7386A>G (p.Thr2462=)
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.73G>A (p.Ala25Thr)
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001081.4(CUBN):c.7435G>A (p.Glu2479Lys)
NM_001081.4(CUBN):c.7451C>A (p.Ala2484Asp)
NM_001081.4(CUBN):c.7454C>T (p.Pro2485Leu)
NM_001081.4(CUBN):c.7471dup (p.Thr2491fs)
NM_001081.4(CUBN):c.7509G>C (p.Pro2503=) rs201001705
NM_001081.4(CUBN):c.750G>A (p.Gly250=)
NM_001081.4(CUBN):c.7522G>A (p.Glu2508Lys)
NM_001081.4(CUBN):c.7530G>A (p.Val2510=)
NM_001081.4(CUBN):c.7533+16C>T
NM_001081.4(CUBN):c.7534-1G>T rs1588639188
NM_001081.4(CUBN):c.7557C>T (p.Asn2519=) rs1588639145
NM_001081.4(CUBN):c.7559C>T (p.Ser2520Leu) rs2131438965
NM_001081.4(CUBN):c.7582A>G (p.Ser2528Gly) rs1047710609
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.4(CUBN):c.7593T>C (p.Asn2531=)
NM_001081.4(CUBN):c.7602T>A (p.Asn2534Lys)
NM_001081.4(CUBN):c.7612T>C (p.Ser2538Pro)
NM_001081.4(CUBN):c.7637T>G (p.Ile2546Ser)
NM_001081.4(CUBN):c.7667G>A (p.Gly2556Asp)
NM_001081.4(CUBN):c.7705+9G>A
NM_001081.4(CUBN):c.7716G>A (p.Gly2572=)
NM_001081.4(CUBN):c.7725A>C (p.Pro2575=)
NM_001081.4(CUBN):c.7794C>A (p.Asn2598Lys)
NM_001081.4(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
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.783G>A (p.Thr261=) rs770878354
NM_001081.4(CUBN):c.783G>T (p.Thr261=)
NM_001081.4(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.4(CUBN):c.7875C>T (p.His2625=)
NM_001081.4(CUBN):c.7884T>C (p.Cys2628=)
NM_001081.4(CUBN):c.7885C>A (p.Gln2629Lys)
NM_001081.4(CUBN):c.7912+14A>G
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.7929C>T (p.Pro2643=)
NM_001081.4(CUBN):c.7944T>C (p.Leu2648=)
NM_001081.4(CUBN):c.794dup (p.Asp265fs)
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_001081.4(CUBN):c.797A>G (p.Glu266Gly) rs2131312260
NM_001081.4(CUBN):c.8020C>T (p.Arg2674Cys)
NM_001081.4(CUBN):c.8049G>T (p.Lys2683Asn)
NM_001081.4(CUBN):c.8049del (p.Lys2683fs)
NM_001081.4(CUBN):c.8061A>G (p.Thr2687=)
NM_001081.4(CUBN):c.8062+15T>C
NM_001081.4(CUBN):c.8062+3A>G
NM_001081.4(CUBN):c.8062+5G>A rs886046866
NM_001081.4(CUBN):c.8062+8T>C
NM_001081.4(CUBN):c.8063-1G>A
NM_001081.4(CUBN):c.8126_8127del (p.Ala2708_Tyr2709insTer)
NM_001081.4(CUBN):c.8129A>G (p.Asp2710Gly)
NM_001081.4(CUBN):c.8165del (p.Pro2722fs)
NM_001081.4(CUBN):c.8177C>T (p.Thr2726Ile)
NM_001081.4(CUBN):c.8185-10T>C
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys) rs2131420801
NM_001081.4(CUBN):c.8231G>C (p.Trp2744Ser) rs983265041
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.8278A>G (p.Ile2760Val) rs749282139
NM_001081.4(CUBN):c.8279T>C (p.Ile2760Thr)
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.4(CUBN):c.8283A>G (p.Gly2761=)
NM_001081.4(CUBN):c.828A>T (p.Thr276=)
NM_001081.4(CUBN):c.8290T>C (p.Cys2764Arg)
NM_001081.4(CUBN):c.836A>G (p.Gln279Arg)
NM_001081.4(CUBN):c.8390C>T (p.Thr2797Met)
NM_001081.4(CUBN):c.8393G>A (p.Trp2798Ter) rs1841332247
NM_001081.4(CUBN):c.8410+16G>T
NM_001081.4(CUBN):c.8411-3C>T
NM_001081.4(CUBN):c.8417G>A (p.Gly2806Asp) rs2131417467
NM_001081.4(CUBN):c.8441G>A (p.Gly2814Asp)
NM_001081.4(CUBN):c.8526C>G (p.His2842Gln)
NM_001081.4(CUBN):c.8527T>C (p.Leu2843=)
NM_001081.4(CUBN):c.8535C>A (p.Ile2845=)
NM_001081.4(CUBN):c.8547C>T (p.Asn2849=)
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.4(CUBN):c.8592C>T (p.Phe2864=)
NM_001081.4(CUBN):c.8598+18T>C rs1841276791
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu) rs1588623316
NM_001081.4(CUBN):c.8600T>A (p.Val2867Glu) rs2131400339
NM_001081.4(CUBN):c.8635C>G (p.Leu2879Val) rs1801238
NM_001081.4(CUBN):c.8641A>G (p.Thr2881Ala)
NM_001081.4(CUBN):c.8648G>A (p.Cys2883Tyr)
NM_001081.4(CUBN):c.8655C>T (p.Asn2885=)
NM_001081.4(CUBN):c.8684_8687del (p.Ser2895fs) rs2131400036
NM_001081.4(CUBN):c.8691A>T (p.Thr2897=)
NM_001081.4(CUBN):c.8711C>G (p.Ser2904Cys)
NM_001081.4(CUBN):c.8711C>T (p.Ser2904Phe) rs1588623068
NM_001081.4(CUBN):c.8715G>A (p.Gln2905=)
NM_001081.4(CUBN):c.873C>T (p.Ala291=)
NM_001081.4(CUBN):c.8742G>A (p.Ala2914=)
NM_001081.4(CUBN):c.8755+2T>C
NM_001081.4(CUBN):c.8756-18C>A
NM_001081.4(CUBN):c.8794A>T (p.Ile2932Phe) rs2131396329
NM_001081.4(CUBN):c.87G>A (p.Glu29=)
NM_001081.4(CUBN):c.8811A>G (p.Pro2937=)
NM_001081.4(CUBN):c.883+5A>G
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.4(CUBN):c.884-1G>A
NM_001081.4(CUBN):c.884-8T>C
NM_001081.4(CUBN):c.8860C>G (p.Pro2954Ala)
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter) rs386833791
NM_001081.4(CUBN):c.8906-13dup
NM_001081.4(CUBN):c.8906-9C>T
NM_001081.4(CUBN):c.8923G>A (p.Gly2975Arg)
NM_001081.4(CUBN):c.8934C>G (p.Val2978=)
NM_001081.4(CUBN):c.8937C>T (p.Asn2979=)
NM_001081.4(CUBN):c.8958A>C (p.Arg2986Ser)
NM_001081.4(CUBN):c.8967C>A (p.Ser2989Arg) rs560485793
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala) rs1408193576
NM_001081.4(CUBN):c.9028G>A (p.Ala3010Thr) rs756775921
NM_001081.4(CUBN):c.9028G>T (p.Ala3010Ser) rs756775921
NM_001081.4(CUBN):c.9054C>T (p.Tyr3018=)
NM_001081.4(CUBN):c.9078C>A (p.Phe3026Leu) rs140524729
NM_001081.4(CUBN):c.9165C>T (p.Tyr3055=)
NM_001081.4(CUBN):c.9166G>T (p.Ala3056Ser) rs569915247
NM_001081.4(CUBN):c.9185T>C (p.Met3062Thr)
NM_001081.4(CUBN):c.9207C>A (p.Thr3069=) rs117936668
NM_001081.4(CUBN):c.9207C>T (p.Thr3069=) rs117936668
NM_001081.4(CUBN):c.9216C>T (p.Asp3072=)
NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)
NM_001081.4(CUBN):c.9237-1G>C
NM_001081.4(CUBN):c.9237-6T>A
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.4(CUBN):c.9255G>A (p.Val3085=)
NM_001081.4(CUBN):c.9266C>T (p.Thr3089Ile)
NM_001081.4(CUBN):c.9324T>A (p.Leu3108=)
NM_001081.4(CUBN):c.9339C>T (p.Cys3113=)
NM_001081.4(CUBN):c.9350G>A (p.Arg3117His)
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln) rs1432636083
NM_001081.4(CUBN):c.9408A>G (p.Ser3136=) rs2131367704
NM_001081.4(CUBN):c.9435G>A (p.Met3145Ile)
NM_001081.4(CUBN):c.9454+19T>G
NM_001081.4(CUBN):c.9456G>A (p.Gly3152=)
NM_001081.4(CUBN):c.94A>G (p.Arg32Gly)
NM_001081.4(CUBN):c.9538G>A (p.Asp3180Asn)
NM_001081.4(CUBN):c.9600C>T (p.Thr3200=)
NM_001081.4(CUBN):c.9605A>C (p.Asn3202Thr)
NM_001081.4(CUBN):c.9613G>A (p.Ala3205Thr)
NM_001081.4(CUBN):c.961C>T (p.Pro321Ser)
NM_001081.4(CUBN):c.9622G>A (p.Ala3208Thr)
NM_001081.4(CUBN):c.9663+13T>C
NM_001081.4(CUBN):c.9663+7C>T
NM_001081.4(CUBN):c.9664-16T>G rs2131320788
NM_001081.4(CUBN):c.9664-20T>C
NM_001081.4(CUBN):c.9664-8del
NM_001081.4(CUBN):c.9666A>G (p.Leu3222=)
NM_001081.4(CUBN):c.9667T>C (p.Tyr3223His)
NM_001081.4(CUBN):c.9690G>A (p.Ala3230=)
NM_001081.4(CUBN):c.9694T>C (p.Leu3232=)
NM_001081.4(CUBN):c.9721G>A (p.Val3241Ile)
NM_001081.4(CUBN):c.9727G>A (p.Ala3243Thr)
NM_001081.4(CUBN):c.9751T>G (p.Phe3251Val)
NM_001081.4(CUBN):c.9783del (p.Thr3261_Leu3262insTer)
NM_001081.4(CUBN):c.9786A>G (p.Leu3262=)
NM_001081.4(CUBN):c.9810A>G (p.Thr3270=)
NM_001081.4(CUBN):c.981A>G (p.Thr327=)
NM_001081.4(CUBN):c.9826+13A>G
NM_001081.4(CUBN):c.9827-20G>A
NM_001081.4(CUBN):c.9830C>T (p.Pro3277Leu)
NM_001081.4(CUBN):c.9843A>C (p.Thr3281=)
NM_001081.4(CUBN):c.9855T>C (p.Thr3285=)
NM_001081.4(CUBN):c.9876A>G (p.Ser3292=)
NM_001081.4(CUBN):c.9903C>T (p.Val3301=)
NM_001081.4(CUBN):c.9942G>A (p.Pro3314=) rs375963302
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His) rs1839305562
NM_001081.4(CUBN):c.9998C>T (p.Thr3333Met)
NM_001081.4(CUBN):c.9999G>A (p.Thr3333=)
NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)
NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)
NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile) rs193302875
NM_001083116.3(PRF1):c.1168C>T (p.Arg390Ter) rs760379846
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs) rs1361687182
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)
NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter) rs193302876
NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)
NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp) rs754711256
NM_001083116.3(PRF1):c.1383G>A (p.Trp461Ter)
NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.150del (p.Thr51fs)
NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)
NM_001083116.3(PRF1):c.185_195del (p.Asp62fs) rs774071705
NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter) rs104894180
NM_001083116.3(PRF1):c.207del (p.Asp70fs) rs786205093
NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)
NM_001083116.3(PRF1):c.229_233dup (p.Asn78fs)
NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)
NM_001083116.3(PRF1):c.442G>A (p.Ala148Thr) rs1208723557
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
NM_001083116.3(PRF1):c.478C>T (p.Gln160Ter)
NM_001083116.3(PRF1):c.523G>T (p.Glu175Ter)
NM_001083116.3(PRF1):c.539+2T>A
NM_001083116.3(PRF1):c.563dup (p.Leu189fs) rs1454231642
NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)
NM_001083116.3(PRF1):c.581dup (p.Arg195fs)
NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)
NM_001083116.3(PRF1):c.658G>C (p.Gly220Arg) rs776571416
NM_001083116.3(PRF1):c.65del (p.Pro22fs)
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)
NM_001083116.3(PRF1):c.982_998del (p.Trp328fs)
NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_001099857.5(IKBKG):c.-16+1G>T rs2148357351
NM_001113378.2(FANCI):c.*614T>G rs886051521
NM_001113378.2(FANCI):c.*662C>G rs560246181
NM_001113378.2(FANCI):c.1003G>A (p.Val335Ile) rs1222471181
NM_001113378.2(FANCI):c.1008G>A (p.Lys336=)
NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu) rs1432524532
NM_001113378.2(FANCI):c.1011C>T (p.Ser337=)
NM_001113378.2(FANCI):c.1013T>C (p.Phe338Ser)
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del) rs770583031
NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp)
NM_001113378.2(FANCI):c.1044A>G (p.Lys348=) rs2151452858
NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
NM_001113378.2(FANCI):c.1053G>T (p.Gln351His)
NM_001113378.2(FANCI):c.1059A>C (p.Leu353=)
NM_001113378.2(FANCI):c.1064C>G (p.Pro355Arg)
NM_001113378.2(FANCI):c.106C>A (p.Gln36Lys)
NM_001113378.2(FANCI):c.106C>G (p.Gln36Glu)
NM_001113378.2(FANCI):c.1070G>T (p.Arg357Ile) rs2151453139
NM_001113378.2(FANCI):c.1074T>C (p.Ser358=)
NM_001113378.2(FANCI):c.1074T>G (p.Ser358=)
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn) rs1429851841
NM_001113378.2(FANCI):c.1077T>C (p.Tyr359=)
NM_001113378.2(FANCI):c.1082C>T (p.Ser361Leu) rs2151453253
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) rs2053319905
NM_001113378.2(FANCI):c.1101A>G (p.Val367=)
NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)
NM_001113378.2(FANCI):c.1107G>A (p.Lys369=)
NM_001113378.2(FANCI):c.1110T>C (p.Asn370=)
NM_001113378.2(FANCI):c.1112+13_1112+14insAGATATGAA
NM_001113378.2(FANCI):c.1112+14C>G
NM_001113378.2(FANCI):c.1112+16A>G
NM_001113378.2(FANCI):c.1112+2T>C
NM_001113378.2(FANCI):c.1112+7del
NM_001113378.2(FANCI):c.1113-13T>C
NM_001113378.2(FANCI):c.1113-1G>A rs2151485792
NM_001113378.2(FANCI):c.1113-20T>C
NM_001113378.2(FANCI):c.1118A>G (p.His373Arg)
NM_001113378.2(FANCI):c.1119T>C (p.His373=)
NM_001113378.2(FANCI):c.1123T>C (p.Trp375Arg)
NM_001113378.2(FANCI):c.1132G>T (p.Val378Phe) rs1216132878
NM_001113378.2(FANCI):c.1134T>C (p.Val378=) rs1201574474
NM_001113378.2(FANCI):c.1140G>A (p.Gln380=) rs1056588286
NM_001113378.2(FANCI):c.1141G>A (p.Gly381Ser)
NM_001113378.2(FANCI):c.1147G>A (p.Val383Ile)
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
NM_001113378.2(FANCI):c.1149A>G (p.Val383=)
NM_001113378.2(FANCI):c.114G>A (p.Val38=) rs769209297
NM_001113378.2(FANCI):c.1152dup (p.Leu385fs)
NM_001113378.2(FANCI):c.1158T>G (p.Gly386=) rs2151486340
NM_001113378.2(FANCI):c.1161C>T (p.Phe387=) rs2151486354
NM_001113378.2(FANCI):c.1162A>G (p.Ile388Val)
NM_001113378.2(FANCI):c.1163T>C (p.Ile388Thr) rs1174812931
NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)
NM_001113378.2(FANCI):c.1182G>A (p.Gly394=)
NM_001113378.2(FANCI):c.1185A>G (p.Pro395=)
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu) rs2053427139
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
NM_001113378.2(FANCI):c.1194T>C (p.Val398=)
NM_001113378.2(FANCI):c.1198G>C (p.Asp400His)
NM_001113378.2(FANCI):c.1202del (p.Gly401fs)
NM_001113378.2(FANCI):c.1203A>T (p.Gly401=)
NM_001113378.2(FANCI):c.1205A>G (p.Lys402Arg)
NM_001113378.2(FANCI):c.1217C>G (p.Thr406Ser)
NM_001113378.2(FANCI):c.1218C>T (p.Thr406=)
NM_001113378.2(FANCI):c.1221C>G (p.Ser407Arg) rs2151486786
NM_001113378.2(FANCI):c.1222C>A (p.Pro408Thr) rs1281730489
NM_001113378.2(FANCI):c.1222C>T (p.Pro408Ser)
NM_001113378.2(FANCI):c.123A>G (p.Lys41=)
NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
NM_001113378.2(FANCI):c.1251T>C (p.His417=) rs2151487041
NM_001113378.2(FANCI):c.1254A>C (p.Ala418=)
NM_001113378.2(FANCI):c.1254A>G (p.Ala418=)
NM_001113378.2(FANCI):c.1254A>T (p.Ala418=) rs772465377
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg) rs146040966
NM_001113378.2(FANCI):c.1266A>G (p.Gly422=)
NM_001113378.2(FANCI):c.126T>C (p.Val42=)
NM_001113378.2(FANCI):c.1272T>C (p.Asn424=)
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1275C>T (p.Ile425=)
NM_001113378.2(FANCI):c.1278G>C (p.Leu426=)
NM_001113378.2(FANCI):c.1278G>T (p.Leu426=) rs1060504377
NM_001113378.2(FANCI):c.1293+11A>G
NM_001113378.2(FANCI):c.1293+1G>A rs768310043
NM_001113378.2(FANCI):c.1293+1G>T
NM_001113378.2(FANCI):c.1293+2T>G
NM_001113378.2(FANCI):c.1293+7C>T
NM_001113378.2(FANCI):c.1293+8A>G
NM_001113378.2(FANCI):c.1293+9C>T
NM_001113378.2(FANCI):c.1294-11G>A
NM_001113378.2(FANCI):c.1294-11G>C rs770915999
NM_001113378.2(FANCI):c.1294-16A>T
NM_001113378.2(FANCI):c.1294-17T>C
NM_001113378.2(FANCI):c.1294-20A>T
NM_001113378.2(FANCI):c.1294-8del
NM_001113378.2(FANCI):c.1294-9_1294-8insA rs1555445524
NM_001113378.2(FANCI):c.1294A>G (p.Ile432Val) rs1387369541
NM_001113378.2(FANCI):c.12G>C (p.Lys4Asn) rs1222824065
NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs)
NM_001113378.2(FANCI):c.1314A>T (p.Gln438His)
NM_001113378.2(FANCI):c.1321T>A (p.Leu441Met)
NM_001113378.2(FANCI):c.1329G>A (p.Gln443=)
NM_001113378.2(FANCI):c.1330G>A (p.Val444Ile) rs1224560872
NM_001113378.2(FANCI):c.1333C>T (p.Leu445Phe) rs2053498951
NM_001113378.2(FANCI):c.1345G>A (p.Val449Ile)
NM_001113378.2(FANCI):c.1349C>A (p.Thr450Asn) rs1294189131
NM_001113378.2(FANCI):c.1349C>G (p.Thr450Ser)
NM_001113378.2(FANCI):c.1350C>G (p.Thr450=)
NM_001113378.2(FANCI):c.1352G>C (p.Arg451Thr)
NM_001113378.2(FANCI):c.1354G>A (p.Ala452Thr)
NM_001113378.2(FANCI):c.1361C>G (p.Ser454Cys)
NM_001113378.2(FANCI):c.1363C>A (p.Pro455Thr) rs2151511659
NM_001113378.2(FANCI):c.1365C>T (p.Pro455=) rs2053499669
NM_001113378.2(FANCI):c.1366A>C (p.Ile456Leu) rs757536456
NM_001113378.2(FANCI):c.1373A>G (p.His458Arg) rs2053499876
NM_001113378.2(FANCI):c.1374T>A (p.His458Gln) rs1183239990
NM_001113378.2(FANCI):c.1381+12T>C
NM_001113378.2(FANCI):c.1381+12T>G
NM_001113378.2(FANCI):c.1381+1G>T
NM_001113378.2(FANCI):c.1381+21_1381+24del
NM_001113378.2(FANCI):c.1381+8A>C
NM_001113378.2(FANCI):c.1381+8A>G
NM_001113378.2(FANCI):c.1382-11C>G
NM_001113378.2(FANCI):c.1382-11_1382-10del rs753044978
NM_001113378.2(FANCI):c.1382-18A>G
NM_001113378.2(FANCI):c.1382-18A>T rs763617822
NM_001113378.2(FANCI):c.1382-19T>C
NM_001113378.2(FANCI):c.1382-5T>C rs2151549574
NM_001113378.2(FANCI):c.1384C>T (p.Leu462=) rs1369888767
NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter) rs2151549770
NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)
NM_001113378.2(FANCI):c.1410A>T (p.Ala470=)
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile) rs2053602523
NM_001113378.2(FANCI):c.1425A>G (p.Gln475=)
NM_001113378.2(FANCI):c.1428T>C (p.Ser476=)
NM_001113378.2(FANCI):c.1436C>A (p.Ser479Tyr) rs2053602935
NM_001113378.2(FANCI):c.1438A>G (p.Lys480Glu)
NM_001113378.2(FANCI):c.1444A>G (p.Thr482Ala) rs1249221854
NM_001113378.2(FANCI):c.1452T>C (p.Ala484=)
NM_001113378.2(FANCI):c.1465T>C (p.Ser489Pro) rs2053603506
NM_001113378.2(FANCI):c.1467C>A (p.Ser489=) rs267604369
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
NM_001113378.2(FANCI):c.1471C>T (p.Leu491=)
NM_001113378.2(FANCI):c.1472T>C (p.Leu491Pro) rs2053603695
NM_001113378.2(FANCI):c.1481A>G (p.Gln494Arg) rs1214081735
NM_001113378.2(FANCI):c.1488A>G (p.Val496=)
NM_001113378.2(FANCI):c.1489C>A (p.Gln497Lys) rs1049036307
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His) rs145349375
NM_001113378.2(FANCI):c.1494G>A (p.Arg498=)
NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser) rs767830108
NM_001113378.2(FANCI):c.1506A>C (p.Ala502=)
NM_001113378.2(FANCI):c.1512+12G>A
NM_001113378.2(FANCI):c.1512+12G>C
NM_001113378.2(FANCI):c.1512+16C>G
NM_001113378.2(FANCI):c.1512+1G>A rs2151551135
NM_001113378.2(FANCI):c.1512+20A>C
NM_001113378.2(FANCI):c.1512+5G>C rs2053605169
NM_001113378.2(FANCI):c.1512G>A (p.Gln504=) rs377762481
NM_001113378.2(FANCI):c.1513-17C>T
NM_001113378.2(FANCI):c.1513-9C>A
NM_001113378.2(FANCI):c.1513-9C>G
NM_001113378.2(FANCI):c.1514C>A (p.Pro505His) rs773105092
NM_001113378.2(FANCI):c.1515C>A (p.Pro505=)
NM_001113378.2(FANCI):c.1517T>G (p.Leu506Arg) rs2151558457
NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile) rs1011876937
NM_001113378.2(FANCI):c.1531A>C (p.Met511Leu) rs1596285157
NM_001113378.2(FANCI):c.153C>G (p.Phe51Leu)
NM_001113378.2(FANCI):c.1541G>A (p.Arg514Lys)
NM_001113378.2(FANCI):c.1544A>G (p.Asp515Gly) rs2053624733
NM_001113378.2(FANCI):c.1550T>G (p.Leu517Trp)
NM_001113378.2(FANCI):c.1556T>C (p.Leu519Pro) rs998713167
NM_001113378.2(FANCI):c.1560C>T (p.Val520=)
NM_001113378.2(FANCI):c.1564C>A (p.Arg522=) rs371568506
NM_001113378.2(FANCI):c.157+14A>G
NM_001113378.2(FANCI):c.157+16G>C
NM_001113378.2(FANCI):c.157+19A>T
NM_001113378.2(FANCI):c.157+1G>A
NM_001113378.2(FANCI):c.157+2TAA[2]
NM_001113378.2(FANCI):c.158-15G>C
NM_001113378.2(FANCI):c.158-16T>C rs749777770
NM_001113378.2(FANCI):c.158-18C>G
NM_001113378.2(FANCI):c.158-18C>T
NM_001113378.2(FANCI):c.158-19C>A rs762350003
NM_001113378.2(FANCI):c.158-19C>T
NM_001113378.2(FANCI):c.158-20C>T
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.158-5A>G
NM_001113378.2(FANCI):c.158-9A>T
NM_001113378.2(FANCI):c.1583+10A>G
NM_001113378.2(FANCI):c.1583+12C>T
NM_001113378.2(FANCI):c.1583+142C>T rs2053631453
NM_001113378.2(FANCI):c.1583+15T>C
NM_001113378.2(FANCI):c.1583+16T>G
NM_001113378.2(FANCI):c.1583+19T>G
NM_001113378.2(FANCI):c.1583+20A>G
NM_001113378.2(FANCI):c.1583+3A>G rs2151559047
NM_001113378.2(FANCI):c.1583+9C>T
NM_001113378.2(FANCI):c.1583A>C (p.Asn528Thr) rs2151559017
NM_001113378.2(FANCI):c.1584-13A>G
NM_001113378.2(FANCI):c.1584-14T>G rs2151579826
NM_001113378.2(FANCI):c.1584-15C>T
NM_001113378.2(FANCI):c.1584-1G>A
NM_001113378.2(FANCI):c.1584-1G>C
NM_001113378.2(FANCI):c.1584-20C>T
NM_001113378.2(FANCI):c.1593T>C (p.Asp531=)
NM_001113378.2(FANCI):c.1617G>A (p.Gly539=) rs757928977
NM_001113378.2(FANCI):c.1626G>C (p.Leu542=)
NM_001113378.2(FANCI):c.1637A>G (p.Asn546Ser)
NM_001113378.2(FANCI):c.1639delinsGTTC (p.Phe547delinsValLeu) rs2053681482
NM_001113378.2(FANCI):c.163C>T (p.Pro55Ser)
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
NM_001113378.2(FANCI):c.1643A>C (p.Lys548Thr) rs2053681603
NM_001113378.2(FANCI):c.1649T>C (p.Leu550Ser) rs2151580534
NM_001113378.2(FANCI):c.1654A>C (p.Ser552Arg) rs1060501899
NM_001113378.2(FANCI):c.1655G>A (p.Ser552Asn) rs1470686039
NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2151580463
NM_001113378.2(FANCI):c.1656C>A (p.Ser552Arg)
NM_001113378.2(FANCI):c.1656C>G (p.Ser552Arg) rs1060501901
NM_001113378.2(FANCI):c.1662A>G (p.Ser554=) rs1596287918
NM_001113378.2(FANCI):c.1664C>A (p.Ser555Tyr)
NM_001113378.2(FANCI):c.1669C>A (p.Gln557Lys)
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs) rs2053682638
NM_001113378.2(FANCI):c.1675A>C (p.Ser559Arg)
NM_001113378.2(FANCI):c.1675A>G (p.Ser559Gly)
NM_001113378.2(FANCI):c.1676G>T (p.Ser559Ile) rs1555446426
NM_001113378.2(FANCI):c.1689T>C (p.Ser563=)
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
NM_001113378.2(FANCI):c.1698+10A>G
NM_001113378.2(FANCI):c.1698+11_1698+14del rs763550734
NM_001113378.2(FANCI):c.1698+1G>A
NM_001113378.2(FANCI):c.1698+4A>G rs1233338671
NM_001113378.2(FANCI):c.1699-13G>A
NM_001113378.2(FANCI):c.1699-15del
NM_001113378.2(FANCI):c.1699-16C>T
NM_001113378.2(FANCI):c.1699-17G>A
NM_001113378.2(FANCI):c.1699-17del rs746745862
NM_001113378.2(FANCI):c.1699-2A>C
NM_001113378.2(FANCI):c.1699-7del
NM_001113378.2(FANCI):c.1699-8C>T
NM_001113378.2(FANCI):c.1703A>C (p.His568Pro) rs555480773
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.2(FANCI):c.1708G>A (p.Asp570Asn)
NM_001113378.2(FANCI):c.1708G>C (p.Asp570His) rs2053765523
NM_001113378.2(FANCI):c.1713T>C (p.Val571=)
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn) rs2053765806
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
NM_001113378.2(FANCI):c.1752C>T (p.Cys584=)
NM_001113378.2(FANCI):c.1754T>G (p.Leu585Arg)
NM_001113378.2(FANCI):c.1761C>G (p.Ile587Met)
NM_001113378.2(FANCI):c.1761C>T (p.Ile587=)
NM_001113378.2(FANCI):c.1767T>C (p.Asp589=)
NM_001113378.2(FANCI):c.176A>T (p.Glu59Val)
NM_001113378.2(FANCI):c.1777A>C (p.Arg593=)
NM_001113378.2(FANCI):c.1779A>G (p.Arg593=) rs2151610817
NM_001113378.2(FANCI):c.1782C>T (p.Cys594=)
NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr)
NM_001113378.2(FANCI):c.1795G>T (p.Ala599Ser)
NM_001113378.2(FANCI):c.1797T>G (p.Ala599=)
NM_001113378.2(FANCI):c.180T>C (p.Ala60=) rs2151252789
NM_001113378.2(FANCI):c.1816del (p.Tyr606fs)
NM_001113378.2(FANCI):c.1821+13A>G rs2151611385
NM_001113378.2(FANCI):c.1821+15T>C
NM_001113378.2(FANCI):c.1821+7C>G
NM_001113378.2(FANCI):c.1821+8C>T rs1406084847
NM_001113378.2(FANCI):c.1822-12G>C rs1348604439
NM_001113378.2(FANCI):c.1822-15T>C
NM_001113378.2(FANCI):c.1822-16C>A
NM_001113378.2(FANCI):c.1822-16C>T
NM_001113378.2(FANCI):c.1822-3T>C rs978852872
NM_001113378.2(FANCI):c.1822-6T>C
NM_001113378.2(FANCI):c.1822-7del rs1457763718
NM_001113378.2(FANCI):c.1822-8C>G
NM_001113378.2(FANCI):c.1828T>A (p.Tyr610Asn)
NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu) rs780853984
NM_001113378.2(FANCI):c.1833T>C (p.Asp611=) rs2151689444
NM_001113378.2(FANCI):c.1837C>T (p.Leu613Phe) rs2151689487
NM_001113378.2(FANCI):c.183A>G (p.Gly61=)
NM_001113378.2(FANCI):c.1841G>A (p.Arg614Gln)
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro) rs780031757
NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)
NM_001113378.2(FANCI):c.1854G>T (p.Gln618His)
NM_001113378.2(FANCI):c.1860T>C (p.Ala620=)
NM_001113378.2(FANCI):c.1863T>A (p.Asn621Lys)
NM_001113378.2(FANCI):c.1867G>A (p.Val623Ile) rs1174201813
NM_001113378.2(FANCI):c.1870A>G (p.Met624Val) rs772744597
NM_001113378.2(FANCI):c.1871T>C (p.Met624Thr) rs758191165
NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs)
NM_001113378.2(FANCI):c.1885T>C (p.Ser629Pro) rs753059359
NM_001113378.2(FANCI):c.1888C>G (p.Gln630Glu)
NM_001113378.2(FANCI):c.1890+12T>C
NM_001113378.2(FANCI):c.1890+19G>T
NM_001113378.2(FANCI):c.1890+1G>T
NM_001113378.2(FANCI):c.1890+20A>C
NM_001113378.2(FANCI):c.1890+8A>G
NM_001113378.2(FANCI):c.1890+9C>T
NM_001113378.2(FANCI):c.1891-10C>A
NM_001113378.2(FANCI):c.1891-10C>T
NM_001113378.2(FANCI):c.1891-11A>G
NM_001113378.2(FANCI):c.1891-13T>C
NM_001113378.2(FANCI):c.1891-14C>G
NM_001113378.2(FANCI):c.1891-4A>G
NM_001113378.2(FANCI):c.1891-6A>G rs878854175
NM_001113378.2(FANCI):c.1891-8A>G
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu)
NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)
NM_001113378.2(FANCI):c.1906G>C (p.Glu636Gln) rs751777082
NM_001113378.2(FANCI):c.1908G>A (p.Glu636=)
NM_001113378.2(FANCI):c.1908_1909delinsAG (p.Pro637Ala)
NM_001113378.2(FANCI):c.1909C>T (p.Pro637Ser)
NM_001113378.2(FANCI):c.191_199del (p.Arg64_Arg66del) rs2151252928
NM_001113378.2(FANCI):c.1925T>C (p.Leu642Pro) rs2151709613
NM_001113378.2(FANCI):c.1931C>T (p.Pro644Leu)
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile)
NM_001113378.2(FANCI):c.1944A>G (p.Glu648=)
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val) rs746651145
NM_001113378.2(FANCI):c.1954C>T (p.Leu652=) rs1433980751
NM_001113378.2(FANCI):c.1955T>G (p.Leu652Arg) rs2151709881
NM_001113378.2(FANCI):c.1962A>C (p.Gln654His)
NM_001113378.2(FANCI):c.1962A>G (p.Gln654=) rs2151709946
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
NM_001113378.2(FANCI):c.1968T>C (p.Asp656=)
NM_001113378.2(FANCI):c.1972A>C (p.Ile658Leu) rs745308624
NM_001113378.2(FANCI):c.1978C>T (p.Leu660=)
NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs)
NM_001113378.2(FANCI):c.1980A>G (p.Leu660=)
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
NM_001113378.2(FANCI):c.1983A>G (p.Gln661=)
NM_001113378.2(FANCI):c.1986A>G (p.Glu662=) rs769047323
NM_001113378.2(FANCI):c.1986dup (p.Pro663fs)
NM_001113378.2(FANCI):c.1987C>T (p.Pro663Ser)
NM_001113378.2(FANCI):c.1989A>C (p.Pro663=)
NM_001113378.2(FANCI):c.1989A>G (p.Pro663=)
NM_001113378.2(FANCI):c.198T>C (p.Arg66=)
NM_001113378.2(FANCI):c.1992+12A>G
NM_001113378.2(FANCI):c.1992+15C>T rs931290756
NM_001113378.2(FANCI):c.1992+3G>C
NM_001113378.2(FANCI):c.1993-10del
NM_001113378.2(FANCI):c.1993-15T>C
NM_001113378.2(FANCI):c.1993-17C>G
NM_001113378.2(FANCI):c.1993-19_1993-15del rs2151723581
NM_001113378.2(FANCI):c.1993-7C>T
NM_001113378.2(FANCI):c.1998T>C (p.Tyr666=)
NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu) rs748834576
NM_001113378.2(FANCI):c.2004G>A (p.Leu668=)
NM_001113378.2(FANCI):c.2004G>T (p.Leu668=)
NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)
NM_001113378.2(FANCI):c.2018A>G (p.His673Arg) rs2151724076
NM_001113378.2(FANCI):c.2019T>C (p.His673=)
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.2(FANCI):c.2029del (p.Trp677fs) rs2151724213
NM_001113378.2(FANCI):c.202A>G (p.Ile68Val)
NM_001113378.2(FANCI):c.2048T>C (p.Ile683Thr)
NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)
NM_001113378.2(FANCI):c.2052C>G (p.Pro684=)
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser) rs2054115728
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)
NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)
NM_001113378.2(FANCI):c.2063G>T (p.Gly688Val) rs778157971
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_001113378.2(FANCI):c.2074G>A (p.Glu692Lys)
NM_001113378.2(FANCI):c.2076G>A (p.Glu692=)
NM_001113378.2(FANCI):c.2078A>G (p.Glu693Gly)
NM_001113378.2(FANCI):c.207C>T (p.Tyr69=)
NM_001113378.2(FANCI):c.2083G>A (p.Glu695Lys)
NM_001113378.2(FANCI):c.2084A>C (p.Glu695Ala)
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
NM_001113378.2(FANCI):c.208A>G (p.Thr70Ala)
NM_001113378.2(FANCI):c.2091A>G (p.Ala697=) rs1262206533
NM_001113378.2(FANCI):c.2095T>A (p.Tyr699Asn) rs769972292
NM_001113378.2(FANCI):c.2096A>G (p.Tyr699Cys) rs774148630
NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=) rs376376537
NM_001113378.2(FANCI):c.2106A>G (p.Leu702=) rs2151725234
NM_001113378.2(FANCI):c.2111A>T (p.Asp704Val)
NM_001113378.2(FANCI):c.2116T>C (p.Leu706=)
NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del)
NM_001113378.2(FANCI):c.2121G>A (p.Glu707=) rs2151725442
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=) rs2054118261
NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
NM_001113378.2(FANCI):c.2163T>C (p.Phe721=) rs1263993972
NM_001113378.2(FANCI):c.2167C>T (p.Leu723=) rs878854177
NM_001113378.2(FANCI):c.2169+15C>T
NM_001113378.2(FANCI):c.2169+18A>G
NM_001113378.2(FANCI):c.2169+1G>A
NM_001113378.2(FANCI):c.2169+2T>C
NM_001113378.2(FANCI):c.2169+9T>C rs1205906508
NM_001113378.2(FANCI):c.2169+9T>G
NM_001113378.2(FANCI):c.2170-3dup
NM_001113378.2(FANCI):c.2170-4T>C rs1167442446
NM_001113378.2(FANCI):c.2170-7C>A rs759281018
NM_001113378.2(FANCI):c.2170-7C>G rs759281018
NM_001113378.2(FANCI):c.2170-9_2170-8del
NM_001113378.2(FANCI):c.2175A>G (p.Lys725=)
NM_001113378.2(FANCI):c.2188T>C (p.Ser730Pro) rs1596304843
NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)
NM_001113378.2(FANCI):c.2196C>T (p.Ser732=)
NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala) rs2054122961
NM_001113378.2(FANCI):c.2198C>G (p.Thr733Ser)
NM_001113378.2(FANCI):c.219C>T (p.Ile73=) rs928688700
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu) rs2052680747
NM_001113378.2(FANCI):c.2222T>C (p.Ile741Thr)
NM_001113378.2(FANCI):c.222G>A (p.Gln74=)
NM_001113378.2(FANCI):c.2231T>C (p.Phe744Ser) rs1196776537
NM_001113378.2(FANCI):c.2233C>T (p.Leu745Phe)
NM_001113378.2(FANCI):c.2236G>A (p.Val746Met)
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg) rs2054124504
NM_001113378.2(FANCI):c.2255T>G (p.Val752Gly)
NM_001113378.2(FANCI):c.2266T>G (p.Tyr756Asp) rs752028405
NM_001113378.2(FANCI):c.226G>A (p.Val76Met) rs2151253448
NM_001113378.2(FANCI):c.2270A>G (p.Asn757Ser) rs111883566
NM_001113378.2(FANCI):c.2273T>G (p.Phe758Cys) rs750735931
NM_001113378.2(FANCI):c.2274C>T (p.Phe758=)
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val) rs780410177
NM_001113378.2(FANCI):c.2280A>G (p.Ile760Met)
NM_001113378.2(FANCI):c.2288T>A (p.Phe763Tyr)
NM_001113378.2(FANCI):c.2290A>C (p.Ser764Arg)
NM_001113378.2(FANCI):c.2291+10T>C
NM_001113378.2(FANCI):c.2291+15T>C rs2151728206
NM_001113378.2(FANCI):c.2291+1G>A
NM_001113378.2(FANCI):c.2291+20C>A
NM_001113378.2(FANCI):c.2291+2T>A rs1400441798
NM_001113378.2(FANCI):c.2291+5G>A rs1315760080
NM_001113378.2(FANCI):c.2292-12T>C
NM_001113378.2(FANCI):c.2292-12dup
NM_001113378.2(FANCI):c.2292-17T>C rs775115671
NM_001113378.2(FANCI):c.2292-18C>A rs901102009
NM_001113378.2(FANCI):c.2292-1G>T
NM_001113378.2(FANCI):c.2292-20C>G
NM_001113378.2(FANCI):c.2292-3C>T
NM_001113378.2(FANCI):c.2292-5dup rs1567165544
NM_001113378.2(FANCI):c.2292-8_2292-7insAT
NM_001113378.2(FANCI):c.2298T>C (p.Asn766=)
NM_001113378.2(FANCI):c.2299A>G (p.Arg767Gly)
NM_001113378.2(FANCI):c.22C>G (p.Leu8Val) rs772954096
NM_001113378.2(FANCI):c.2300G>T (p.Arg767Met) rs1555447886
NM_001113378.2(FANCI):c.2302T>G (p.Phe768Val)
NM_001113378.2(FANCI):c.2303T>A (p.Phe768Tyr)
NM_001113378.2(FANCI):c.2306A>C (p.Glu769Ala)
NM_001113378.2(FANCI):c.2307G>A (p.Glu769=)
NM_001113378.2(FANCI):c.2307G>C (p.Glu769Asp)
NM_001113378.2(FANCI):c.2310C>T (p.Asp770=) rs1169269440
NM_001113378.2(FANCI):c.2314C>T (p.Leu772=)
NM_001113378.2(FANCI):c.2318G>A (p.Ser773Asn) rs1192891263
NM_001113378.2(FANCI):c.2319C>T (p.Ser773=)
NM_001113378.2(FANCI):c.231A>G (p.Glu77=)
NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs)
NM_001113378.2(FANCI):c.2327T>G (p.Met776Arg)
NM_001113378.2(FANCI):c.2330G>A (p.Cys777Tyr)
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
NM_001113378.2(FANCI):c.2340dup (p.Leu781fs)
NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro)
NM_001113378.2(FANCI):c.2343C>G (p.Leu781=) rs1377037041
NM_001113378.2(FANCI):c.2343C>T (p.Leu781=)
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs) rs2151740576
NM_001113378.2(FANCI):c.2348A>G (p.Asp783Gly) rs1363536852
NM_001113378.2(FANCI):c.234G>A (p.Ser78=)
NM_001113378.2(FANCI):c.2352T>A (p.Ile784=)
NM_001113378.2(FANCI):c.2364A>G (p.Lys788=)
NM_001113378.2(FANCI):c.2366C>T (p.Ala789Val) rs925359228
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu) rs1415605220
NM_001113378.2(FANCI):c.2370T>A (p.Gly790=) rs2151740808
NM_001113378.2(FANCI):c.237G>A (p.Gly79=)
NM_001113378.2(FANCI):c.2382T>G (p.Thr794=) rs2151740871
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val) rs761136936
NM_001113378.2(FANCI):c.2394C>A (p.Asn798Lys)
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala) rs1163712614
NM_001113378.2(FANCI):c.2400A>G (p.Thr800=)
NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)
NM_001113378.2(FANCI):c.241T>C (p.Leu81=)
NM_001113378.2(FANCI):c.2424A>G (p.Lys808=)
NM_001113378.2(FANCI):c.2428G>T (p.Val810Leu) rs779973664
NM_001113378.2(FANCI):c.2430G>A (p.Val810=) rs2151741501
NM_001113378.2(FANCI):c.2440C>G (p.Leu814Val) rs2151741592
NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)
NM_001113378.2(FANCI):c.2455A>G (p.Arg819Gly) rs370996106
NM_001113378.2(FANCI):c.2456+10T>C rs2151741937
NM_001113378.2(FANCI):c.2456+12C>G
NM_001113378.2(FANCI):c.2456+16A>G
NM_001113378.2(FANCI):c.2456+17G>C
NM_001113378.2(FANCI):c.2456+19G>A
NM_001113378.2(FANCI):c.2456+1G>A
NM_001113378.2(FANCI):c.2457-10C>G
NM_001113378.2(FANCI):c.2457-11TC[3]
NM_001113378.2(FANCI):c.2457-12G>A
NM_001113378.2(FANCI):c.2457-12G>C
NM_001113378.2(FANCI):c.2457-12_2457-3del
NM_001113378.2(FANCI):c.2457-16C>G
NM_001113378.2(FANCI):c.2457-16C>T
NM_001113378.2(FANCI):c.2457-18C>T
NM_001113378.2(FANCI):c.2457-20C>G
NM_001113378.2(FANCI):c.2457-20C>T
NM_001113378.2(FANCI):c.2457-23TC[3] rs751389631
NM_001113378.2(FANCI):c.2457-2A>G rs2054196709
NM_001113378.2(FANCI):c.2457-4C>A
NM_001113378.2(FANCI):c.2457-4C>T
NM_001113378.2(FANCI):c.2457-7T>C
NM_001113378.2(FANCI):c.2457-8C>G rs2151754256
NM_001113378.2(FANCI):c.2457-8C>T rs2151754256
NM_001113378.2(FANCI):c.2458G>A (p.Asp820Asn) rs2151754385
NM_001113378.2(FANCI):c.2458G>T (p.Asp820Tyr) rs2151754385
NM_001113378.2(FANCI):c.2459A>G (p.Asp820Gly)
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.2473C>T (p.His825Tyr)
NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)
NM_001113378.2(FANCI):c.247A>G (p.Lys83Glu) rs2151253685
NM_001113378.2(FANCI):c.2484C>G (p.Ser828Arg)
NM_001113378.2(FANCI):c.2484C>T (p.Ser828=) rs750041727
NM_001113378.2(FANCI):c.2496C>T (p.Leu832=)
NM_001113378.2(FANCI):c.2497A>G (p.Arg833Gly)
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
NM_001113378.2(FANCI):c.24A>G (p.Leu8=)
NM_001113378.2(FANCI):c.2511G>C (p.Glu837Asp) rs2151754914
NM_001113378.2(FANCI):c.2518C>T (p.Arg840Cys)
NM_001113378.2(FANCI):c.2519G>T (p.Arg840Leu) rs777483611
NM_001113378.2(FANCI):c.2520C>A (p.Arg840=)
NM_001113378.2(FANCI):c.2520C>T (p.Arg840=)
NM_001113378.2(FANCI):c.2532T>C (p.Asn844=)
NM_001113378.2(FANCI):c.2533G>A (p.Val845Ile) rs1596307741
NM_001113378.2(FANCI):c.2544G>A (p.Gln848=)
NM_001113378.2(FANCI):c.2550A>G (p.Val850=)
NM_001113378.2(FANCI):c.2553G>A (p.Gln851=)
NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly)
NM_001113378.2(FANCI):c.2566A>C (p.Thr856Pro) rs541976745
NM_001113378.2(FANCI):c.2568A>G (p.Thr856=)
NM_001113378.2(FANCI):c.2571G>A (p.Gly857=) rs2151755630
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr) rs1361710673
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
NM_001113378.2(FANCI):c.257C>G (p.Ala86Gly)
NM_001113378.2(FANCI):c.2583C>A (p.Gly861=)
NM_001113378.2(FANCI):c.2586T>C (p.Pro862=)
NM_001113378.2(FANCI):c.2588A>G (p.Asp863Gly) rs2054201315
NM_001113378.2(FANCI):c.258G>A (p.Ala86=) rs750230813
NM_001113378.2(FANCI):c.258G>T (p.Ala86=)
NM_001113378.2(FANCI):c.2591G>T (p.Gly864Val)
NM_001113378.2(FANCI):c.2592C>A (p.Gly864=)
NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)
NM_001113378.2(FANCI):c.2609T>A (p.Ile870Asn)
NM_001113378.2(FANCI):c.2611T>C (p.Phe871Leu)
NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)
NM_001113378.2(FANCI):c.2616G>A (p.Gln872=)
NM_001113378.2(FANCI):c.2619C>T (p.Asn873=)
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2636+10T>A
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.2636+12C>G
NM_001113378.2(FANCI):c.2636+18C>A
NM_001113378.2(FANCI):c.2636+18C>T
NM_001113378.2(FANCI):c.2636+7C>A rs1264792365
NM_001113378.2(FANCI):c.2636+7C>T
NM_001113378.2(FANCI):c.2636+8A>G
NM_001113378.2(FANCI):c.2636+9C>A
NM_001113378.2(FANCI):c.2636+9C>T
NM_001113378.2(FANCI):c.2637-12C>A
NM_001113378.2(FANCI):c.2637-12C>G
NM_001113378.2(FANCI):c.2637-15T>C rs2151838036
NM_001113378.2(FANCI):c.2637-16C>T
NM_001113378.2(FANCI):c.2637-18C>T
NM_001113378.2(FANCI):c.2637-19C>T
NM_001113378.2(FANCI):c.2637-1G>C
NM_001113378.2(FANCI):c.2637-1G>T
NM_001113378.2(FANCI):c.2637-5T>C
NM_001113378.2(FANCI):c.2640C>A (p.Val880=)
NM_001113378.2(FANCI):c.2644C>T (p.Leu882=)
NM_001113378.2(FANCI):c.2646A>C (p.Leu882=)
NM_001113378.2(FANCI):c.264G>A (p.Glu88=)
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser) rs749604758
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
NM_001113378.2(FANCI):c.2658T>C (p.Thr886=)
NM_001113378.2(FANCI):c.2658T>G (p.Thr886=)
NM_001113378.2(FANCI):c.2660C>T (p.Ser887Leu)
NM_001113378.2(FANCI):c.2665C>T (p.Pro889Ser)
NM_001113378.2(FANCI):c.2670T>C (p.Thr890=)
NM_001113378.2(FANCI):c.2671T>G (p.Ser891Ala) rs2054461834
NM_001113378.2(FANCI):c.2674G>T (p.Val892Leu) rs760751687
NM_001113378.2(FANCI):c.2677G>A (p.Glu893Lys)
NM_001113378.2(FANCI):c.2678A>C (p.Glu893Ala)
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
NM_001113378.2(FANCI):c.2683T>G (p.Ser895Ala) rs1567170319
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr) rs530089482
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2697G>T (p.Glu899Asp)
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
NM_001113378.2(FANCI):c.2703A>G (p.Gly901=)
NM_001113378.2(FANCI):c.2708G>T (p.Ser903Ile) rs1421890045
NM_001113378.2(FANCI):c.2711T>A (p.Ile904Asn)
NM_001113378.2(FANCI):c.2724C>T (p.Cys908=)
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
NM_001113378.2(FANCI):c.2727G>A (p.Leu909=)
NM_001113378.2(FANCI):c.2728G>C (p.Glu910Gln) rs1261021714
NM_001113378.2(FANCI):c.2733T>C (p.Gly911=)
NM_001113378.2(FANCI):c.2736A>G (p.Leu912=) rs768880495
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2738A>C (p.Gln913Pro)
NM_001113378.2(FANCI):c.2745_2747del (p.Phe916del)
NM_001113378.2(FANCI):c.2746T>C (p.Phe916Leu)
NM_001113378.2(FANCI):c.2747T>G (p.Phe916Cys)
NM_001113378.2(FANCI):c.2750G>A (p.Ser917Asn) rs2151839260
NM_001113378.2(FANCI):c.2752G>A (p.Ala918Thr)
NM_001113378.2(FANCI):c.2766C>G (p.Phe922Leu) rs2054464932
NM_001113378.2(FANCI):c.2776A>C (p.Lys926Gln) rs1596316742
NM_001113378.2(FANCI):c.2777A>C (p.Lys926Thr) rs1386770100
NM_001113378.2(FANCI):c.2781T>A (p.Ile927=) rs771106622
NM_001113378.2(FANCI):c.2782C>G (p.Gln928Glu)
NM_001113378.2(FANCI):c.2789T>G (p.Phe930Cys)
NM_001113378.2(FANCI):c.2790T>A (p.Phe930Leu)
NM_001113378.2(FANCI):c.2793C>T (p.Leu931=)
NM_001113378.2(FANCI):c.2797G>A (p.Ala933Thr)
NM_001113378.2(FANCI):c.2803+11C>G
NM_001113378.2(FANCI):c.2803+13G>A
NM_001113378.2(FANCI):c.2803+16T>A
NM_001113378.2(FANCI):c.2803+18A>T
NM_001113378.2(FANCI):c.2803+19A>G
NM_001113378.2(FANCI):c.2803+6C>T
NM_001113378.2(FANCI):c.2803+8T>C
NM_001113378.2(FANCI):c.2804-19G>A
NM_001113378.2(FANCI):c.2804-1G>C rs2054480330
NM_001113378.2(FANCI):c.2804-2A>G
NM_001113378.2(FANCI):c.2804-2A>T
NM_001113378.2(FANCI):c.2804-4C>A
NM_001113378.2(FANCI):c.2804-5C>G
NM_001113378.2(FANCI):c.2804-9C>T
NM_001113378.2(FANCI):c.280A>G (p.Met94Val)
NM_001113378.2(FANCI):c.2810C>G (p.Thr937Arg) rs2151844601
NM_001113378.2(FANCI):c.2822_2824del (p.Gly941del)
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2832A>G (p.Arg944=) rs79685648
NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs)
NM_001113378.2(FANCI):c.2838del (p.Asp946fs)
NM_001113378.2(FANCI):c.283C>T (p.Leu95=)
NM_001113378.2(FANCI):c.2840C>T (p.Ala947Val)
NM_001113378.2(FANCI):c.2842G>C (p.Asp948His)
NM_001113378.2(FANCI):c.2843A>G (p.Asp948Gly) rs2054481871
NM_001113378.2(FANCI):c.2847C>T (p.Val949=)
NM_001113378.2(FANCI):c.2849G>C (p.Ser950Thr) rs760327010
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
NM_001113378.2(FANCI):c.2850T>C (p.Ser950=)
NM_001113378.2(FANCI):c.2854A>G (p.Thr952Ala)
NM_001113378.2(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal) rs1555448946
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)
NM_001113378.2(FANCI):c.2866G>A (p.Ala956Thr)
NM_001113378.2(FANCI):c.2868A>G (p.Ala956=) rs2151845184
NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu)
NM_001113378.2(FANCI):c.2874G>C (p.Gln958His)
NM_001113378.2(FANCI):c.2877C>A (p.Ile959=)
NM_001113378.2(FANCI):c.288+10C>G
NM_001113378.2(FANCI):c.288+13del rs748948721
NM_001113378.2(FANCI):c.288+18_288+19delinsTC rs2151254662
NM_001113378.2(FANCI):c.288+19A>T
NM_001113378.2(FANCI):c.288+19del
NM_001113378.2(FANCI):c.2889+13G>T
NM_001113378.2(FANCI):c.2889+16A>G
NM_001113378.2(FANCI):c.2889+1G>A
NM_001113378.2(FANCI):c.2889+20T>A rs2151845568
NM_001113378.2(FANCI):c.2889+2T>C
NM_001113378.2(FANCI):c.289-13T>C
NM_001113378.2(FANCI):c.289-15C>G
NM_001113378.2(FANCI):c.289-15C>T
NM_001113378.2(FANCI):c.289-17A>G rs2052714114
NM_001113378.2(FANCI):c.289-18T>C
NM_001113378.2(FANCI):c.2890-15G>A
NM_001113378.2(FANCI):c.2890-2A>C
NM_001113378.2(FANCI):c.2891G>A (p.Arg964Lys) rs2151859007
NM_001113378.2(FANCI):c.2892G>A (p.Arg964=) rs780232353
NM_001113378.2(FANCI):c.2896T>C (p.Leu966=) rs1042620375
NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer)
NM_001113378.2(FANCI):c.2909T>G (p.Leu970Arg) rs376798440
NM_001113378.2(FANCI):c.2933del (p.Asn978fs)
NM_001113378.2(FANCI):c.2936G>A (p.Ser979Asn) rs769453869
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr) rs769453869
NM_001113378.2(FANCI):c.2937C>T (p.Ser979=)
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs)
NM_001113378.2(FANCI):c.2949C>A (p.Leu983=) rs2151859425
NM_001113378.2(FANCI):c.294C>T (p.His98=)
NM_001113378.2(FANCI):c.2953C>G (p.Leu985Val)
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
NM_001113378.2(FANCI):c.2958C>T (p.Val986=)
NM_001113378.2(FANCI):c.295del (p.His99fs) rs759398314
NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg)
NM_001113378.2(FANCI):c.2961G>A (p.Thr987=)
NM_001113378.2(FANCI):c.2961G>C (p.Thr987=)
NM_001113378.2(FANCI):c.2961G>T (p.Thr987=)
NM_001113378.2(FANCI):c.2969C>T (p.Thr990Ile) rs762231803
NM_001113378.2(FANCI):c.2972G>C (p.Ser991Thr)
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
NM_001113378.2(FANCI):c.2985A>G (p.Leu995=)
NM_001113378.2(FANCI):c.2990A>T (p.Glu997Val) rs1567171375
NM_001113378.2(FANCI):c.2998T>A (p.Ser1000Thr) rs2151859745
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) rs2052048258
NM_001113378.2(FANCI):c.2T>G (p.Met1Arg)
NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs) rs1596318782
NM_001113378.2(FANCI):c.3006+12G>A
NM_001113378.2(FANCI):c.3006+13C>A
NM_001113378.2(FANCI):c.3006+13C>T rs1412674861
NM_001113378.2(FANCI):c.3006+1G>A
NM_001113378.2(FANCI):c.3006+20A>C rs1173017190
NM_001113378.2(FANCI):c.3006+4C>G
NM_001113378.2(FANCI):c.3006+7G>A
NM_001113378.2(FANCI):c.3007-18G>A
NM_001113378.2(FANCI):c.3007-1G>A
NM_001113378.2(FANCI):c.3007-1G>C
NM_001113378.2(FANCI):c.3007-1G>T
NM_001113378.2(FANCI):c.3007-3T>A
NM_001113378.2(FANCI):c.3007-9C>G
NM_001113378.2(FANCI):c.301C>T (p.Pro101Ser) rs770185523
NM_001113378.2(FANCI):c.3024C>T (p.Ser1008=)
NM_001113378.2(FANCI):c.3030A>G (p.Thr1010=)
NM_001113378.2(FANCI):c.3032C>T (p.Ser1011Leu)
NM_001113378.2(FANCI):c.3036G>A (p.Lys1012=)
NM_001113378.2(FANCI):c.3036G>T (p.Lys1012Asn)
NM_001113378.2(FANCI):c.3054C>G (p.Ser1018Arg)
NM_001113378.2(FANCI):c.3056G>C (p.Arg1019Pro) rs772401747
NM_001113378.2(FANCI):c.3058+10C>T rs1375877085
NM_001113378.2(FANCI):c.3058+15A>G
NM_001113378.2(FANCI):c.3058+1G>C
NM_001113378.2(FANCI):c.3058+4A>G rs2054616468
NM_001113378.2(FANCI):c.3058+8T>C
NM_001113378.2(FANCI):c.3058G>A (p.Glu1020Lys)
NM_001113378.2(FANCI):c.3059-11C>T rs2054667046
NM_001113378.2(FANCI):c.3059-14C>A
NM_001113378.2(FANCI):c.3059-18T>C
NM_001113378.2(FANCI):c.3059-4C>G rs747570773
NM_001113378.2(FANCI):c.3059-4C>T rs747570773
NM_001113378.2(FANCI):c.3059-4dup rs1317953100
NM_001113378.2(FANCI):c.3061G>A (p.Asp1021Asn) rs2054667740
NM_001113378.2(FANCI):c.3061G>T (p.Asp1021Tyr) rs2054667740
NM_001113378.2(FANCI):c.3062A>G (p.Asp1021Gly) rs1290229004
NM_001113378.2(FANCI):c.3064G>T (p.Ala1022Ser) rs1359308008
NM_001113378.2(FANCI):c.3066C>T (p.Ala1022=)
NM_001113378.2(FANCI):c.3075C>T (p.Cys1025=)
NM_001113378.2(FANCI):c.3078G>A (p.Lys1026=) rs2151913000
NM_001113378.2(FANCI):c.3096C>T (p.Leu1032=) rs2151913106
NM_001113378.2(FANCI):c.309A>G (p.Pro103=)
NM_001113378.2(FANCI):c.3105G>A (p.Leu1035=)
NM_001113378.2(FANCI):c.3105G>C (p.Leu1035=)
NM_001113378.2(FANCI):c.3113C>T (p.Ser1038Leu) rs2151913209
NM_001113378.2(FANCI):c.3114G>T (p.Ser1038=) rs567952571
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3117T>C (p.Tyr1039=) rs2151913256
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3125C>G (p.Pro1042Arg)
NM_001113378.2(FANCI):c.3129C>T (p.Val1043=)
NM_001113378.2(FANCI):c.312A>G (p.Leu104=)
NM_001113378.2(FANCI):c.3136C>T (p.Leu1046=)
NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)
NM_001113378.2(FANCI):c.3147G>A (p.Leu1049=)
NM_001113378.2(FANCI):c.3147G>T (p.Leu1049Phe)
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3150C>T (p.Ser1050=)
NM_001113378.2(FANCI):c.3157A>G (p.Ile1053Val) rs1486397190
NM_001113378.2(FANCI):c.3161A>G (p.His1054Arg)
NM_001113378.2(FANCI):c.3163G>A (p.Gly1055Arg)
NM_001113378.2(FANCI):c.3165G>A (p.Gly1055=) rs1596324375
NM_001113378.2(FANCI):c.3166C>A (p.His1056Asn) rs2054670897
NM_001113378.2(FANCI):c.3168T>A (p.His1056Gln)
NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=) rs564447394
NM_001113378.2(FANCI):c.3172G>A (p.Gly1058Arg) rs2054671049
NM_001113378.2(FANCI):c.3179T>C (p.Ile1060Thr) rs201376236
NM_001113378.2(FANCI):c.3183C>T (p.Asp1061=)
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3186+10T>C
NM_001113378.2(FANCI):c.3186+14C>T
NM_001113378.2(FANCI):c.3186+6A>G rs910020158
NM_001113378.2(FANCI):c.3187-11C>G
NM_001113378.2(FANCI):c.3187-12T>C
NM_001113378.2(FANCI):c.3187-13T>G
NM_001113378.2(FANCI):c.3187-14C>A
NM_001113378.2(FANCI):c.3187-16C>T
NM_001113378.2(FANCI):c.3187-18C>G
NM_001113378.2(FANCI):c.3187-2A>G
NM_001113378.2(FANCI):c.3187-3C>G rs2054676661
NM_001113378.2(FANCI):c.3187-7del
NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys)
NM_001113378.2(FANCI):c.3195G>A (p.Glu1065=)
NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)
NM_001113378.2(FANCI):c.320A>G (p.Glu107Gly) rs2052715611
NM_001113378.2(FANCI):c.3219A>G (p.Ala1073=)
NM_001113378.2(FANCI):c.3220A>T (p.Ile1074Leu) rs1450182027
NM_001113378.2(FANCI):c.3220_3222del (p.Ile1074del)
NM_001113378.2(FANCI):c.3231G>A (p.Leu1077=)
NM_001113378.2(FANCI):c.3233G>C (p.Arg1078Thr)
NM_001113378.2(FANCI):c.3234A>G (p.Arg1078=) rs1596324690
NM_001113378.2(FANCI):c.3237G>T (p.Thr1079=)
NM_001113378.2(FANCI):c.3242C>T (p.Ala1081Val)
NM_001113378.2(FANCI):c.3246C>T (p.Pro1082=)
NM_001113378.2(FANCI):c.324A>G (p.Leu108=) rs1427386763
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe) rs533779983
NM_001113378.2(FANCI):c.3255+10G>A
NM_001113378.2(FANCI):c.3255+16G>A rs2151915712
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3256-17G>C
NM_001113378.2(FANCI):c.3256-19A>G
NM_001113378.2(FANCI):c.3256-8_3256-4del
NM_001113378.2(FANCI):c.3256-9_3256-8del rs752376850
NM_001113378.2(FANCI):c.325_326delinsAT (p.Ala109Ile) rs2151267729
NM_001113378.2(FANCI):c.3264T>A (p.Val1088=)
NM_001113378.2(FANCI):c.3265C>T (p.Leu1089=)
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) rs2054689057
NM_001113378.2(FANCI):c.3276C>T (p.Ala1092=)
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys) rs758575911
NM_001113378.2(FANCI):c.327C>T (p.Ala109=)
NM_001113378.2(FANCI):c.3282G>A (p.Lys1094=)
NM_001113378.2(FANCI):c.3283G>A (p.Val1095Ile) rs1596325131
NM_001113378.2(FANCI):c.3285T>C (p.Val1095=) rs1567174233
NM_001113378.2(FANCI):c.3286C>T (p.Leu1096=)
NM_001113378.2(FANCI):c.3288A>T (p.Leu1096=)
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp) rs1555442689
NM_001113378.2(FANCI):c.3291A>G (p.Glu1097=) rs2054690236
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)
NM_001113378.2(FANCI):c.3306A>T (p.Leu1102=)
NM_001113378.2(FANCI):c.3309C>T (p.Ile1103=)
NM_001113378.2(FANCI):c.3310A>C (p.Thr1104Pro) rs768735814
NM_001113378.2(FANCI):c.3311C>G (p.Thr1104Ser)
NM_001113378.2(FANCI):c.3312C>T (p.Thr1104=)
NM_001113378.2(FANCI):c.3316C>A (p.Leu1106Ile)
NM_001113378.2(FANCI):c.331G>C (p.Glu111Gln) rs2151267825
NM_001113378.2(FANCI):c.3324A>G (p.Gly1108=)
NM_001113378.2(FANCI):c.3333C>T (p.Ser1111=)
NM_001113378.2(FANCI):c.3344T>C (p.Leu1115Ser) rs2151919026
NM_001113378.2(FANCI):c.3349+10G>A rs1337260318
NM_001113378.2(FANCI):c.3349+17del
NM_001113378.2(FANCI):c.3350-88A>G rs2054700381
NM_001113378.2(FANCI):c.3350-8C>T rs1398425984
NM_001113378.2(FANCI):c.3354G>C (p.Glu1118Asp)
NM_001113378.2(FANCI):c.3354G>T (p.Glu1118Asp) rs760199293
NM_001113378.2(FANCI):c.3355G>A (p.Ala1119Thr)
NM_001113378.2(FANCI):c.3357C>G (p.Ala1119=)
NM_001113378.2(FANCI):c.3358T>A (p.Ser1120Thr)
NM_001113378.2(FANCI):c.336T>C (p.Phe112=)
NM_001113378.2(FANCI):c.3370A>C (p.Thr1124Pro)
NM_001113378.2(FANCI):c.3370A>G (p.Thr1124Ala) rs2151923443
NM_001113378.2(FANCI):c.3371C>G (p.Thr1124Ser)
NM_001113378.2(FANCI):c.337A>C (p.Ile113Leu) rs766158703
NM_001113378.2(FANCI):c.3382C>G (p.Gln1128Glu) rs2054705069
NM_001113378.2(FANCI):c.3384G>A (p.Gln1128=) rs988319051
NM_001113378.2(FANCI):c.3389T>A (p.Val1130Asp) rs764412863
NM_001113378.2(FANCI):c.3391G>C (p.Glu1131Gln)
NM_001113378.2(FANCI):c.3392A>G (p.Glu1131Gly)
NM_001113378.2(FANCI):c.3396A>G (p.Lys1132=)
NM_001113378.2(FANCI):c.3399T>C (p.Ala1133=)
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
NM_001113378.2(FANCI):c.3403A>T (p.Ile1135Phe)
NM_001113378.2(FANCI):c.3411A>G (p.Gln1137=) rs781569040
NM_001113378.2(FANCI):c.3411A>T (p.Gln1137His)
NM_001113378.2(FANCI):c.3423G>A (p.Leu1141=) rs1596325708
NM_001113378.2(FANCI):c.3423G>C (p.Leu1141=)
NM_001113378.2(FANCI):c.3426T>C (p.Leu1142=) rs748087226
NM_001113378.2(FANCI):c.3428C>G (p.Thr1143Arg) rs772071601
NM_001113378.2(FANCI):c.342T>C (p.Ser114=)
NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs) rs2054707218
NM_001113378.2(FANCI):c.3438C>T (p.His1146=)
NM_001113378.2(FANCI):c.345T>C (p.Ala115=)
NM_001113378.2(FANCI):c.3460C>T (p.Pro1154Ser)
NM_001113378.2(FANCI):c.3462A>G (p.Pro1154=)
NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter) rs2151924296
NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs)
NM_001113378.2(FANCI):c.3475G>T (p.Val1159Leu) rs2054708416
NM_001113378.2(FANCI):c.3486G>A (p.Leu1162=)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3495C>G (p.Asp1165Glu)
NM_001113378.2(FANCI):c.3498G>C (p.Leu1166Phe)
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) rs548947826
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
NM_001113378.2(FANCI):c.3500G>T (p.Cys1167Phe) rs1223721098
NM_001113378.2(FANCI):c.3506T>C (p.Met1169Thr) rs2151924528
NM_001113378.2(FANCI):c.350G>C (p.Arg117Thr)
NM_001113378.2(FANCI):c.3516A>G (p.Thr1172=)
NM_001113378.2(FANCI):c.3520A>G (p.Thr1174Ala)
NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile) rs757106031
NM_001113378.2(FANCI):c.3525C>T (p.Ala1175=) rs114810692
NM_001113378.2(FANCI):c.3528T>C (p.Leu1176=)
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
NM_001113378.2(FANCI):c.3531C>A (p.Val1177=)
NM_001113378.2(FANCI):c.3532A>G (p.Arg1178Gly)
NM_001113378.2(FANCI):c.3537+18G>A
NM_001113378.2(FANCI):c.3537+19C>G rs2054711237
NM_001113378.2(FANCI):c.3537+19C>T
NM_001113378.2(FANCI):c.3537+3_3537+6del rs780264785
NM_001113378.2(FANCI):c.3538-11T>G
NM_001113378.2(FANCI):c.3538-12T>C
NM_001113378.2(FANCI):c.3538-12T>G
NM_001113378.2(FANCI):c.3538-19A>G
NM_001113378.2(FANCI):c.3538-2A>T rs1407605188
NM_001113378.2(FANCI):c.3538-6T>A
NM_001113378.2(FANCI):c.3538-6del
NM_001113378.2(FANCI):c.3538-6dup
NM_001113378.2(FANCI):c.3543C>G (p.Leu1181=)
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
NM_001113378.2(FANCI):c.3546G>A (p.Gln1182=) rs1349708901
NM_001113378.2(FANCI):c.3549G>C (p.Val1183=)
NM_001113378.2(FANCI):c.3558C>T (p.Ser1186=)
NM_001113378.2(FANCI):c.3560C>A (p.Ser1187Tyr)
NM_001113378.2(FANCI):c.3561C>A (p.Ser1187=)
NM_001113378.2(FANCI):c.3563G>C (p.Gly1188Ala)
NM_001113378.2(FANCI):c.3568A>G (p.Ile1190Val) rs2151940603
NM_001113378.2(FANCI):c.3570T>A (p.Ile1190=)
NM_001113378.2(FANCI):c.3578A>T (p.Asn1193Ile)
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
NM_001113378.2(FANCI):c.3591+13del
NM_001113378.2(FANCI):c.3591+15C>G
NM_001113378.2(FANCI):c.3591+16C>G
NM_001113378.2(FANCI):c.3591+16C>T
NM_001113378.2(FANCI):c.3591+4A>T rs774180579
NM_001113378.2(FANCI):c.3591+8G>A
NM_001113378.2(FANCI):c.3592-12C>T rs2054775391
NM_001113378.2(FANCI):c.3592-14C>T
NM_001113378.2(FANCI):c.3592-19C>T
NM_001113378.2(FANCI):c.3592-20C>T
NM_001113378.2(FANCI):c.3592-6G>T
NM_001113378.2(FANCI):c.3592-7_3592-5del
NM_001113378.2(FANCI):c.3594G>C (p.Val1198=)
NM_001113378.2(FANCI):c.3600G>A (p.Leu1200=)
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.2(FANCI):c.3611A>T (p.His1204Leu)
NM_001113378.2(FANCI):c.3615G>C (p.Leu1205=)
NM_001113378.2(FANCI):c.3621C>A (p.Pro1207=)
NM_001113378.2(FANCI):c.3621C>G (p.Pro1207=)
NM_001113378.2(FANCI):c.3622C>T (p.Leu1208=) rs1448880215
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) rs1567175626
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3630T>C (p.Tyr1210=)
NM_001113378.2(FANCI):c.3636C>T (p.Phe1212=)
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) rs767466504
NM_001113378.2(FANCI):c.363A>G (p.Leu121=) rs1596243244
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) rs760364969
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile) rs978000003
NM_001113378.2(FANCI):c.3646G>T (p.Val1216Leu) rs978000003
NM_001113378.2(FANCI):c.3651+12A>G
NM_001113378.2(FANCI):c.3651+14A>G
NM_001113378.2(FANCI):c.3651+18A>C
NM_001113378.2(FANCI):c.3651+3A>G rs2151942001
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=) rs766147964
NM_001113378.2(FANCI):c.3652-10A>G rs202231175
NM_001113378.2(FANCI):c.3652-10A>T rs202231175
NM_001113378.2(FANCI):c.3652-11T>C
NM_001113378.2(FANCI):c.3652-12C>A
NM_001113378.2(FANCI):c.3652-16G>A
NM_001113378.2(FANCI):c.3652-16G>C rs537857278
NM_001113378.2(FANCI):c.3652-18del rs763430013
NM_001113378.2(FANCI):c.3652-1G>T
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001113378.2(FANCI):c.3653A>G (p.Asn1218Ser) rs1352752568
NM_001113378.2(FANCI):c.3654T>C (p.Asn1218=)
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs)
NM_001113378.2(FANCI):c.3667C>G (p.Leu1223Val)
NM_001113378.2(FANCI):c.3669G>C (p.Leu1223=)
NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs) rs1596336945
NM_001113378.2(FANCI):c.366G>A (p.Val122=)
NM_001113378.2(FANCI):c.3670A>G (p.Asn1224Asp)
NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs)
NM_001113378.2(FANCI):c.3676A>T (p.Thr1226Ser)
NM_001113378.2(FANCI):c.3678G>C (p.Thr1226=) rs748187517
NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs)
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=) rs765168059
NM_001113378.2(FANCI):c.3689A>T (p.Lys1230Met)
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu) rs1252915442
NM_001113378.2(FANCI):c.3696A>G (p.Lys1232=)
NM_001113378.2(FANCI):c.3696A>T (p.Lys1232Asn) rs2055028402
NM_001113378.2(FANCI):c.3709G>A (p.Ala1237Thr) rs751025656
NM_001113378.2(FANCI):c.3714A>T (p.Thr1238=)
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val) rs2055029234
NM_001113378.2(FANCI):c.3720+11G>A
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.3720+14A>T
NM_001113378.2(FANCI):c.3720+16T>A
NM_001113378.2(FANCI):c.3720+16_3720+19del rs759240153
NM_001113378.2(FANCI):c.3720+20C>A
NM_001113378.2(FANCI):c.3720+20C>G
NM_001113378.2(FANCI):c.3720+20C>T rs572665348
NM_001113378.2(FANCI):c.3721-16T>C
NM_001113378.2(FANCI):c.3721-20C>G rs2152016160
NM_001113378.2(FANCI):c.3721-20C>T
NM_001113378.2(FANCI):c.3721-6C>T rs2152016648
NM_001113378.2(FANCI):c.3725G>A (p.Arg1242Lys) rs2055130158
NM_001113378.2(FANCI):c.372A>G (p.Gly124=) rs2151268209
NM_001113378.2(FANCI):c.3733C>T (p.Arg1245Trp) rs905867236
NM_001113378.2(FANCI):c.3737A>C (p.Glu1246Ala) rs2152016970
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val) rs2055130868
NM_001113378.2(FANCI):c.3753T>G (p.Pro1251=)
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp) rs1229086339
NM_001113378.2(FANCI):c.3756C>T (p.Asn1252=)
NM_001113378.2(FANCI):c.3759C>G (p.Leu1253=)
NM_001113378.2(FANCI):c.3776A>C (p.Gln1259Pro)
NM_001113378.2(FANCI):c.3777G>A (p.Gln1259=)
NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.2(FANCI):c.3790C>T (p.Leu1264Phe)
NM_001113378.2(FANCI):c.3795C>A (p.Ile1265=)
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr) rs2152017364
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
NM_001113378.2(FANCI):c.379T>G (p.Leu127Val)
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) rs2152017390
NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met) rs749287934
NM_001113378.2(FANCI):c.3816+10C>T
NM_001113378.2(FANCI):c.3816+12_3816+13del
NM_001113378.2(FANCI):c.3816+16T>C
NM_001113378.2(FANCI):c.3816+17_3816+19del rs374324314
NM_001113378.2(FANCI):c.3816+18A>T
NM_001113378.2(FANCI):c.3817-10C>T
NM_001113378.2(FANCI):c.3817-11T>C
NM_001113378.2(FANCI):c.3817-13A>C
NM_001113378.2(FANCI):c.3817-13A>G
NM_001113378.2(FANCI):c.3817-14C>A
NM_001113378.2(FANCI):c.3817-18C>T
NM_001113378.2(FANCI):c.3817-8T>C
NM_001113378.2(FANCI):c.3817-8T>G
NM_001113378.2(FANCI):c.3817-9T>C
NM_001113378.2(FANCI):c.3819G>C (p.Val1273=)
NM_001113378.2(FANCI):c.3822C>T (p.Asn1274=)
NM_001113378.2(FANCI):c.3828G>A (p.Met1276Ile) rs745401006
NM_001113378.2(FANCI):c.3830A>G (p.Gln1277Arg) rs2152030610
NM_001113378.2(FANCI):c.3831G>A (p.Gln1277=)
NM_001113378.2(FANCI):c.3836T>C (p.Met1279Thr)
NM_001113378.2(FANCI):c.3840G>A (p.Lys1280=)
NM_001113378.2(FANCI):c.3848C>G (p.Thr1283Ser) rs2055184928
NM_001113378.2(FANCI):c.3848C>T (p.Thr1283Ile) rs2055184928
NM_001113378.2(FANCI):c.3849C>T (p.Thr1283=)
NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)
NM_001113378.2(FANCI):c.384G>A (p.Glu128=)
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001113378.2(FANCI):c.3864G>A (p.Lys1288=) rs2152030838
NM_001113378.2(FANCI):c.3864_3869del (p.Ile1289_Lys1290del) rs2152030819
NM_001113378.2(FANCI):c.3872G>C (p.Gly1291Ala)
NM_001113378.2(FANCI):c.3875A>G (p.Asn1292Ser) rs2055185392
NM_001113378.2(FANCI):c.3880C>T (p.Leu1294=)
NM_001113378.2(FANCI):c.3882A>G (p.Leu1294=)
NM_001113378.2(FANCI):c.3886A>T (p.Met1296Leu)
NM_001113378.2(FANCI):c.3887T>C (p.Met1296Thr)
NM_001113378.2(FANCI):c.3888G>A (p.Met1296Ile) rs777500700
NM_001113378.2(FANCI):c.388C>T (p.Leu130=)
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile) rs150076848
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly) rs551305056
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) rs138663330
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs) rs2055186253
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys)
NM_001113378.2(FANCI):c.3907G>T (p.Glu1303Ter) rs544848412
NM_001113378.2(FANCI):c.3908A>G (p.Glu1303Gly) rs1596343025
NM_001113378.2(FANCI):c.390A>G (p.Leu130=)
NM_001113378.2(FANCI):c.3918T>C (p.Asn1306=) rs561190476
NM_001113378.2(FANCI):c.3921A>G (p.Glu1307=)
NM_001113378.2(FANCI):c.3924+12C>A
NM_001113378.2(FANCI):c.3924+12C>T
NM_001113378.2(FANCI):c.3924+15_3924+16del
NM_001113378.2(FANCI):c.3924+16T>C
NM_001113378.2(FANCI):c.3924+17G>A
NM_001113378.2(FANCI):c.3924+19C>T
NM_001113378.2(FANCI):c.3924+1G>A rs864622739
NM_001113378.2(FANCI):c.3924+1G>T
NM_001113378.2(FANCI):c.3924+20T>C
NM_001113378.2(FANCI):c.3924+2T>C
NM_001113378.2(FANCI):c.3924+8C>T rs2055187470
NM_001113378.2(FANCI):c.3925-10_3935inv
NM_001113378.2(FANCI):c.3925-11del
NM_001113378.2(FANCI):c.3925-13_3925-10dup
NM_001113378.2(FANCI):c.3925-14C>A
NM_001113378.2(FANCI):c.3925-14C>T
NM_001113378.2(FANCI):c.3925-15_3925-11dup
NM_001113378.2(FANCI):c.3925-17A>C
NM_001113378.2(FANCI):c.3925-17A>G rs1164805902
NM_001113378.2(FANCI):c.3925-5T>C
NM_001113378.2(FANCI):c.3925-6T>G
NM_001113378.2(FANCI):c.3925-7C>T rs1389176310
NM_001113378.2(FANCI):c.3925-7del
NM_001113378.2(FANCI):c.3925-84_3925-81dup rs1444126104
NM_001113378.2(FANCI):c.3925-9C>T rs750218626
NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del) rs2055264556
NM_001113378.2(FANCI):c.3927C>T (p.Gly1309=) rs1275616370
NM_001113378.2(FANCI):c.3939G>A (p.Glu1313=)
NM_001113378.2(FANCI):c.393T>G (p.Pro131=)
NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=) rs1443770274
NM_001113378.2(FANCI):c.3956_3957del (p.Lys1319fs) rs2152049557
NM_001113378.2(FANCI):c.3965C>T (p.Ala1322Val) rs771174269
NM_001113378.2(FANCI):c.3969G>A (p.Lys1323=)
NM_001113378.2(FANCI):c.3971A>G (p.Lys1324Arg) rs1402252175
NM_001113378.2(FANCI):c.3977G>C (p.Arg1326Thr)
NM_001113378.2(FANCI):c.3977_3981dup (p.Lys1328fs) rs771578684
NM_001113378.2(FANCI):c.3984A>C (p.Lys1328Asn) rs1159813655
NM_001113378.2(FANCI):c.3984A>G (p.Lys1328=)
NM_001113378.2(FANCI):c.3984dup (p.Ter1329IleextTer?)
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
NM_001113378.2(FANCI):c.3985_*2dup (p.Ter1329_Ter(1329_?)(?))
NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr) rs2052049943
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
NM_001113378.2(FANCI):c.429T>A (p.Asn143Lys) rs2052718668
NM_001113378.2(FANCI):c.437A>G (p.Tyr146Cys)
NM_001113378.2(FANCI):c.438T>C (p.Tyr146=)
NM_001113378.2(FANCI):c.441A>G (p.Gly147=)
NM_001113378.2(FANCI):c.443A>G (p.Lys148Arg) rs1282962332
NM_001113378.2(FANCI):c.445+11T>G
NM_001113378.2(FANCI):c.445+12C>T
NM_001113378.2(FANCI):c.445+13C>A
NM_001113378.2(FANCI):c.445+15A>T
NM_001113378.2(FANCI):c.445G>A (p.Gly149Ser) rs763494935
NM_001113378.2(FANCI):c.446-10G>A
NM_001113378.2(FANCI):c.446-17A>G rs768395269
NM_001113378.2(FANCI):c.446-20A>G
NM_001113378.2(FANCI):c.446-2A>G
NM_001113378.2(FANCI):c.446-4C>A rs1178021756
NM_001113378.2(FANCI):c.446-7T>C
NM_001113378.2(FANCI):c.446del
NM_001113378.2(FANCI):c.45C>G (p.Asp15Glu) rs765811874
NM_001113378.2(FANCI):c.463G>A (p.Glu155Lys) rs766640605
NM_001113378.2(FANCI):c.466T>C (p.Cys156Arg)
NM_001113378.2(FANCI):c.473A>T (p.Lys158Ile)
NM_001113378.2(FANCI):c.474dup (p.Gln159fs)
NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
NM_001113378.2(FANCI):c.477G>T (p.Gln159His)
NM_001113378.2(FANCI):c.483T>A (p.Ile161=)
NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)
NM_001113378.2(FANCI):c.489C>G (p.Thr163=)
NM_001113378.2(FANCI):c.490C>T (p.Leu164=)
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr) rs2151054381
NM_001113378.2(FANCI):c.501C>G (p.Gly167=)
NM_001113378.2(FANCI):c.501C>T (p.Gly167=) rs2151271104
NM_001113378.2(FANCI):c.503+19T>G
NM_001113378.2(FANCI):c.503+6T>G
NM_001113378.2(FANCI):c.504-10C>A
NM_001113378.2(FANCI):c.504-10C>T
NM_001113378.2(FANCI):c.504-12T>C
NM_001113378.2(FANCI):c.504-15A>G
NM_001113378.2(FANCI):c.504-16C>T rs1293392490
NM_001113378.2(FANCI):c.504-2A>G
NM_001113378.2(FANCI):c.504-5A>G
NM_001113378.2(FANCI):c.504-7C>T
NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_001113378.2(FANCI):c.508del (p.Asp170fs)
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val) rs1328734606
NM_001113378.2(FANCI):c.509del (p.Asp170fs)
NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg) rs775891592
NM_001113378.2(FANCI):c.516A>G (p.Gln172=)
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His) rs2151291390
NM_001113378.2(FANCI):c.519T>C (p.Tyr173=) rs1392387292
NM_001113378.2(FANCI):c.51G>T (p.Leu17=)
NM_001113378.2(FANCI):c.531C>G (p.Leu177=)
NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)
NM_001113378.2(FANCI):c.542_545+57del
NM_001113378.2(FANCI):c.545+12C>G rs2052802070
NM_001113378.2(FANCI):c.545+16del
NM_001113378.2(FANCI):c.545+17C>T
NM_001113378.2(FANCI):c.545+18C>T
NM_001113378.2(FANCI):c.545+7A>G rs1439143383
NM_001113378.2(FANCI):c.545+9C>T
NM_001113378.2(FANCI):c.546-18A>G rs2151297022
NM_001113378.2(FANCI):c.546-4A>G
NM_001113378.2(FANCI):c.546-5C>T rs2052826764
NM_001113378.2(FANCI):c.548A>T (p.Asp183Val)
NM_001113378.2(FANCI):c.553C>T (p.Pro185Ser)
NM_001113378.2(FANCI):c.555T>C (p.Pro185=)
NM_001113378.2(FANCI):c.558G>C (p.Leu186=) rs746658213
NM_001113378.2(FANCI):c.560C>G (p.Thr187Ser)
NM_001113378.2(FANCI):c.563C>A (p.Ala188Glu) rs2052827709
NM_001113378.2(FANCI):c.564A>G (p.Ala188=) rs1376947158
NM_001113378.2(FANCI):c.565G>A (p.Glu189Lys) rs2052827867
NM_001113378.2(FANCI):c.565G>C (p.Glu189Gln)
NM_001113378.2(FANCI):c.568G>C (p.Glu190Gln)
NM_001113378.2(FANCI):c.573G>A (p.Val191=)
NM_001113378.2(FANCI):c.574G>C (p.Glu192Gln)
NM_001113378.2(FANCI):c.576A>G (p.Glu192=)
NM_001113378.2(FANCI):c.587A>C (p.Glu196Ala)
NM_001113378.2(FANCI):c.594A>G (p.Ala198=)
NM_001113378.2(FANCI):c.599G>T (p.Ser200Ile)
NM_001113378.2(FANCI):c.603G>A (p.Met201Ile)
NM_001113378.2(FANCI):c.606C>T (p.Phe202=) rs886051508
NM_001113378.2(FANCI):c.609C>A (p.Ser203=)
NM_001113378.2(FANCI):c.615G>C (p.Met205Ile)
NM_001113378.2(FANCI):c.620T>A (p.Leu207His)
NM_001113378.2(FANCI):c.623A>G (p.Gln208Arg) rs368033980
NM_001113378.2(FANCI):c.624A>G (p.Gln208=)
NM_001113378.2(FANCI):c.630dup (p.Pro211fs)
NM_001113378.2(FANCI):c.632del (p.Pro211fs)
NM_001113378.2(FANCI):c.634C>T (p.Pro212Ser) rs2151297988
NM_001113378.2(FANCI):c.642C>G (p.Val214=) rs2052830189
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe) rs2052830473
NM_001113378.2(FANCI):c.651T>G (p.Leu217=)
NM_001113378.2(FANCI):c.654G>A (p.Leu218=)
NM_001113378.2(FANCI):c.660C>G (p.Leu220=)
NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)
NM_001113378.2(FANCI):c.669+15T>C
NM_001113378.2(FANCI):c.669+17_669+18del rs751881445
NM_001113378.2(FANCI):c.669+18T>C
NM_001113378.2(FANCI):c.669+1G>T
NM_001113378.2(FANCI):c.669+7A>G
NM_001113378.2(FANCI):c.670-11A>G
NM_001113378.2(FANCI):c.670-13G>A
NM_001113378.2(FANCI):c.670-17T>C
NM_001113378.2(FANCI):c.670-18A>G
NM_001113378.2(FANCI):c.670-8_670-6del rs747690719
NM_001113378.2(FANCI):c.679_682del (p.Lys227fs) rs2151304648
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
NM_001113378.2(FANCI):c.688T>G (p.Leu230Val) rs2151304688
NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)
NM_001113378.2(FANCI):c.690G>A (p.Leu230=)
NM_001113378.2(FANCI):c.696A>T (p.Gly232=) rs2052856419
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val) rs757102747
NM_001113378.2(FANCI):c.69C>T (p.Thr23=)
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr) rs1254032261
NM_001113378.2(FANCI):c.706T>C (p.Phe236Leu) rs1356319036
NM_001113378.2(FANCI):c.706_707delinsGC (p.Phe236Ala) rs2151304891
NM_001113378.2(FANCI):c.70C>T (p.Leu24=)
NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
NM_001113378.2(FANCI):c.741A>G (p.Glu247=) rs2151305242
NM_001113378.2(FANCI):c.746G>A (p.Ser249Asn) rs2052858701
NM_001113378.2(FANCI):c.754G>C (p.Glu252Gln)
NM_001113378.2(FANCI):c.755+13G>A
NM_001113378.2(FANCI):c.755+14T>C
NM_001113378.2(FANCI):c.755+16T>C
NM_001113378.2(FANCI):c.755+20A>T
NM_001113378.2(FANCI):c.755+3G>A rs2151305411
NM_001113378.2(FANCI):c.756-15T>C
NM_001113378.2(FANCI):c.756-25_756-19del rs2053061271
NM_001113378.2(FANCI):c.756-4T>G rs1332788738
NM_001113378.2(FANCI):c.756-6T>C
NM_001113378.2(FANCI):c.756-7C>A
NM_001113378.2(FANCI):c.756-8T>C
NM_001113378.2(FANCI):c.757C>A (p.Leu253Ile)
NM_001113378.2(FANCI):c.760T>C (p.Leu254=) rs1567148345
NM_001113378.2(FANCI):c.765T>A (p.Asp255Glu)
NM_001113378.2(FANCI):c.765TGT[1] (p.Val257del) rs1322941307
NM_001113378.2(FANCI):c.774T>G (p.Thr258=)
NM_001113378.2(FANCI):c.775G>A (p.Val259Met) rs2053062704
NM_001113378.2(FANCI):c.777G>A (p.Val259=)
NM_001113378.2(FANCI):c.777G>T (p.Val259=)
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
NM_001113378.2(FANCI):c.791T>A (p.Leu264His)
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala) rs1005232714
NM_001113378.2(FANCI):c.805G>A (p.Gly269Ser)
NM_001113378.2(FANCI):c.816T>C (p.Ile272=) rs746104364
NM_001113378.2(FANCI):c.819A>T (p.Leu273=) rs1596258380
NM_001113378.2(FANCI):c.822C>T (p.His274=) rs2053064054
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
NM_001113378.2(FANCI):c.827T>C (p.Val276Ala)
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.835A>G (p.Ile279Val) rs1434427258
NM_001113378.2(FANCI):c.838A>C (p.Lys280Gln) rs2053065030
NM_001113378.2(FANCI):c.838A>G (p.Lys280Glu)
NM_001113378.2(FANCI):c.83A>G (p.Asp28Gly) rs1060501902
NM_001113378.2(FANCI):c.84+13A>C
NM_001113378.2(FANCI):c.84+16C>T rs2052052021
NM_001113378.2(FANCI):c.84+17A>G
NM_001113378.2(FANCI):c.84+19G>A rs2151055776
NM_001113378.2(FANCI):c.84+2_84+3del
NM_001113378.2(FANCI):c.84+6dup rs1275602094
NM_001113378.2(FANCI):c.84+7A>T rs2151055602
NM_001113378.2(FANCI):c.840A>G (p.Lys280=)
NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly)
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.2(FANCI):c.849T>C (p.Tyr283=)
NM_001113378.2(FANCI):c.85-10T>C
NM_001113378.2(FANCI):c.85-13T>C
NM_001113378.2(FANCI):c.85-19C>A
NM_001113378.2(FANCI):c.85-19C>G
NM_001113378.2(FANCI):c.85-1G>A
NM_001113378.2(FANCI):c.85-1G>T
NM_001113378.2(FANCI):c.85-22_85-15del
NM_001113378.2(FANCI):c.85-2A>G
NM_001113378.2(FANCI):c.85-8C>G
NM_001113378.2(FANCI):c.85-8_85-5del
NM_001113378.2(FANCI):c.85-8_85-7del
NM_001113378.2(FANCI):c.855A>T (p.Leu285=)
NM_001113378.2(FANCI):c.865C>T (p.Leu289Phe)
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_001113378.2(FANCI):c.867C>T (p.Leu289=)
NM_001113378.2(FANCI):c.870G>C (p.Val290=)
NM_001113378.2(FANCI):c.876_879del (p.His292fs) rs2053066105
NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)
NM_001113378.2(FANCI):c.879_882+14del
NM_001113378.2(FANCI):c.882+12C>G
NM_001113378.2(FANCI):c.882+12C>T
NM_001113378.2(FANCI):c.882+15G>A
NM_001113378.2(FANCI):c.882+15G>C
NM_001113378.2(FANCI):c.882+16T>G
NM_001113378.2(FANCI):c.882+18A>G
NM_001113378.2(FANCI):c.882+2T>A rs2053066295
NM_001113378.2(FANCI):c.882+2T>C
NM_001113378.2(FANCI):c.882+6A>G
NM_001113378.2(FANCI):c.883-11C>T
NM_001113378.2(FANCI):c.883-13T>C
NM_001113378.2(FANCI):c.883-4C>G rs2053277160
NM_001113378.2(FANCI):c.883-7C>T
NM_001113378.2(FANCI):c.883-9C>G
NM_001113378.2(FANCI):c.885A>G (p.Val295=) rs1159439786
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
NM_001113378.2(FANCI):c.894A>G (p.Gln298=)
NM_001113378.2(FANCI):c.896G>A (p.Gly299Glu) rs2053277582
NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr) rs1567151740
NM_001113378.2(FANCI):c.8A>G (p.Gln3Arg)
NM_001113378.2(FANCI):c.911A>G (p.Asn304Ser) rs2053277912
NM_001113378.2(FANCI):c.912_916del (p.Asn304fs)
NM_001113378.2(FANCI):c.919_920delinsGT (p.Pro307Val) rs2053278264
NM_001113378.2(FANCI):c.92A>T (p.Asn31Ile)
NM_001113378.2(FANCI):c.933TCT[2] (p.Leu314del) rs766563407
NM_001113378.2(FANCI):c.937C>G (p.Leu313Val)
NM_001113378.2(FANCI):c.938T>C (p.Leu313Pro)
NM_001113378.2(FANCI):c.93T>C (p.Asn31=)
NM_001113378.2(FANCI):c.93T>G (p.Asn31Lys)
NM_001113378.2(FANCI):c.950C>G (p.Thr317Arg) rs774051668
NM_001113378.2(FANCI):c.953G>T (p.Arg318Ile)
NM_001113378.2(FANCI):c.956T>C (p.Ile319Thr) rs1024430096
NM_001113378.2(FANCI):c.960A>G (p.Gln320=)
NM_001113378.2(FANCI):c.96_98del (p.Leu33del) rs747603151
NM_001113378.2(FANCI):c.970G>T (p.Asp324Tyr) rs2151439651
NM_001113378.2(FANCI):c.975+10dup rs751890595
NM_001113378.2(FANCI):c.975+19A>G
NM_001113378.2(FANCI):c.975+20T>C
NM_001113378.2(FANCI):c.975+23dup
NM_001113378.2(FANCI):c.976-13A>C
NM_001113378.2(FANCI):c.976-1G>T
NM_001113378.2(FANCI):c.976-2_977dup
NM_001113378.2(FANCI):c.976-9A>T
NM_001113378.2(FANCI):c.994A>C (p.Thr332Pro) rs2053317531
NM_001113378.2(FANCI):c.996T>G (p.Thr332=)
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu) rs761982725
NM_001113378.2(FANCI):c.9G>C (p.Gln3His)
NM_001113525.2(ZNF276):c.*1046A>G rs1257557473
NM_001113525.2(ZNF276):c.*1049G>A
NM_001113525.2(ZNF276):c.*1050G>A rs1463777596
NM_001113525.2(ZNF276):c.*1051T>G
NM_001113525.2(ZNF276):c.*1052A>G rs2151712130
NM_001113525.2(ZNF276):c.*1057C>T
NM_001113525.2(ZNF276):c.*1058A>G
NM_001113525.2(ZNF276):c.*1059_*1060del
NM_001113525.2(ZNF276):c.*1062T>C rs2151712162
NM_001113525.2(ZNF276):c.*1212A>C
NM_001113525.2(ZNF276):c.*1212_*1217del
NM_001113525.2(ZNF276):c.*1213G>A rs978377623
NM_001113525.2(ZNF276):c.*1215C>A rs1318852669
NM_001113525.2(ZNF276):c.*1216C>T
NM_001113525.2(ZNF276):c.*1216del
NM_001113525.2(ZNF276):c.*1218G>T
NM_001113525.2(ZNF276):c.*1219T>A
NM_001113525.2(ZNF276):c.*1221G>A
NM_001113525.2(ZNF276):c.*1221G>T
NM_001113525.2(ZNF276):c.*1223T>C rs1383806921
NM_001113525.2(ZNF276):c.*1223T>G rs1383806921
NM_001113525.2(ZNF276):c.*1225G>A
NM_001113525.2(ZNF276):c.*1227G>A rs1353285713
NM_001113525.2(ZNF276):c.*1310G>C
NM_001113525.2(ZNF276):c.*1314C>T rs2062071481
NM_001113525.2(ZNF276):c.*1316C>G rs9282680
NM_001113525.2(ZNF276):c.*1317C>G rs2062071933
NM_001113525.2(ZNF276):c.*1322_*1323delinsGA rs2151713121
NM_001113525.2(ZNF276):c.*1327C>T
NM_001113525.2(ZNF276):c.*1728C>T rs2151714503
NM_001113525.2(ZNF276):c.*1731AGC[1]
NM_001113525.2(ZNF276):c.*1735G>T
NM_001113525.2(ZNF276):c.*1736C>T
NM_001113525.2(ZNF276):c.*1737G>A
NM_001113525.2(ZNF276):c.*1737GT[1] rs1491270557
NM_001113525.2(ZNF276):c.*1739G>C rs201323033
NM_001113525.2(ZNF276):c.*1740T>A
NM_001113525.2(ZNF276):c.*1741_*1742del rs2151714552
NM_001113525.2(ZNF276):c.*1743C>T
NM_001113525.2(ZNF276):c.*1744T>C rs2062087707
NM_001113525.2(ZNF276):c.*1857T>A rs2151714907
NM_001113525.2(ZNF276):c.*1860A>G
NM_001113525.2(ZNF276):c.*1861C>T
NM_001113525.2(ZNF276):c.*1862C>A rs776077648
NM_001113525.2(ZNF276):c.*1867G>A rs762916608
NM_001113525.2(ZNF276):c.*1867G>C
NM_001113525.2(ZNF276):c.*1869G>C
NM_001113525.2(ZNF276):c.*201C>T rs1230
NM_001113525.2(ZNF276):c.*246G>A rs55679217
NM_001113525.2(ZNF276):c.*2515_*2543del
NM_001113525.2(ZNF276):c.*2541G>A
NM_001113525.2(ZNF276):c.*2542G>A rs900858198
NM_001113525.2(ZNF276):c.*2542G>T
NM_001113525.2(ZNF276):c.*2546G>C
NM_001113525.2(ZNF276):c.*2546G>T
NM_001113525.2(ZNF276):c.*2548T>G
NM_001113525.2(ZNF276):c.*2551G>A rs1443117288
NM_001113525.2(ZNF276):c.*2551G>C rs1443117288
NM_001113525.2(ZNF276):c.*2623G>A
NM_001113525.2(ZNF276):c.*2625A>G rs2151716900
NM_001113525.2(ZNF276):c.*2632A>G
NM_001113525.2(ZNF276):c.*2633_*2634dup
NM_001113525.2(ZNF276):c.*2635G>A rs749085160
NM_001113525.2(ZNF276):c.*2635G>C rs749085160
NM_001113525.2(ZNF276):c.*2636T>A
NM_001113525.2(ZNF276):c.*2638C>T
NM_001113525.2(ZNF276):c.*2639A>G rs927937594
NM_001113525.2(ZNF276):c.*2640C>A
NM_001113525.2(ZNF276):c.*2640_*2642del
NM_001113525.2(ZNF276):c.*465G>C rs765478990
NM_001113525.2(ZNF276):c.*466T>A rs2062032155
NM_001113525.2(ZNF276):c.*467G>A rs2151710015
NM_001113525.2(ZNF276):c.*468AG[2]
NM_001113525.2(ZNF276):c.*468AG[4] rs746081933
NM_001113525.2(ZNF276):c.*469G>C
NM_001113525.2(ZNF276):c.*470A>G rs372268907
NM_001113525.2(ZNF276):c.*471G>A rs368506826
NM_001113525.2(ZNF276):c.*471GAG[1] rs2151710048
NM_001113525.2(ZNF276):c.*472A>G rs2151710055
NM_001113525.2(ZNF276):c.*474G>A rs751989527
NM_001113525.2(ZNF276):c.*474G>T
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276
NM_001113525.2(ZNF276):c.*475A>T rs2151710077
NM_001113525.2(ZNF276):c.*478A>G
NM_001113525.2(ZNF276):c.*479G>C
NM_001113525.2(ZNF276):c.*480G>A
NM_001113525.2(ZNF276):c.*482C>A
NM_001113525.2(ZNF276):c.*523_*538del
NM_001113525.2(ZNF276):c.*607A>G rs1800359
NM_001113525.2(ZNF276):c.*607_*630del rs2151710539
NM_001113525.2(ZNF276):c.*616G>A rs1019949093
NM_001113525.2(ZNF276):c.*617G>T
NM_001113525.2(ZNF276):c.*620G>A
NM_001113525.2(ZNF276):c.*622C>T
NM_001113525.2(ZNF276):c.*623dup
NM_001113525.2(ZNF276):c.*627T>C rs2151710610
NM_001113525.2(ZNF276):c.*629A>C
NM_001113525.2(ZNF276):c.*630C>A rs374793201
NM_001113525.2(ZNF276):c.*630C>G rs374793201
NM_001113525.2(ZNF276):c.*630C>T rs374793201
NM_001113525.2(ZNF276):c.*631G>A
NM_001113525.2(ZNF276):c.*732G>A rs775180524
NM_001113525.2(ZNF276):c.*732GA[2] rs2062047195
NM_001113525.2(ZNF276):c.*733A>G rs2151710982
NM_001113525.2(ZNF276):c.*734G>A
NM_001113525.2(ZNF276):c.*734G>C
NM_001113525.2(ZNF276):c.*736G>C rs1235913738
NM_001113525.2(ZNF276):c.*737A>C rs1235253861
NM_001113525.2(ZNF276):c.*737A>G rs1235253861
NM_001113525.2(ZNF276):c.*738A>G rs2151711012
NM_001113525.2(ZNF276):c.*741C>G
NM_001113525.2(ZNF276):c.*742A>G rs2151711032
NM_001113525.2(ZNF276):c.*747A>C
NM_001113525.2(ZNF276):c.*814del
NM_001113525.2(ZNF276):c.*867G>T
NM_001113525.2(ZNF276):c.*868G>T
NM_001113525.2(ZNF276):c.*870C>T
NM_001113525.2(ZNF276):c.*872G>A
NM_001113525.2(ZNF276):c.*875C>T rs2151711547
NM_001113525.2(ZNF276):c.*876C>G
NM_001113525.2(ZNF276):c.*879G>C rs772665586
NM_001113525.2(ZNF276):c.*879dup
NM_001113525.2(ZNF276):c.*882C>T
NM_001113525.2(ZNF276):c.1475-217T>C rs886052477
NM_001113525.2(ZNF276):c.1574+26del rs66471129
NM_001114134.2(EPB42):c.10+6C>T
NM_001114134.2(EPB42):c.1025G>A (p.Gly342Asp) rs116484797
NM_001114134.2(EPB42):c.1075+14G>A rs775871506
NM_001114134.2(EPB42):c.1077C>T (p.Val359=) rs768178069
NM_001114134.2(EPB42):c.1097T>C (p.Val366Ala)
NM_001114134.2(EPB42):c.1195T>C (p.Cys399Arg) rs751034626
NM_001114134.2(EPB42):c.1213G>A (p.Glu405Lys)
NM_001114134.2(EPB42):c.1220C>T (p.Thr407Ile) rs886051166
NM_001114134.2(EPB42):c.1244G>C (p.Gly415Ala) rs753161252
NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)
NM_001114134.2(EPB42):c.1315G>A (p.Glu439Lys)
NM_001114134.2(EPB42):c.1318+3A>G rs376358319
NM_001114134.2(EPB42):c.1345G>C (p.Glu449Gln)
NM_001114134.2(EPB42):c.1373G>A (p.Arg458His)
NM_001114134.2(EPB42):c.1386C>T (p.Asn462=) rs199505318
NM_001114134.2(EPB42):c.1564C>A (p.Leu522Ile)
NM_001114134.2(EPB42):c.1619-19C>T
NM_001114134.2(EPB42):c.1619A>G (p.Glu540Gly)
NM_001114134.2(EPB42):c.1682del (p.Phe561fs) rs775832353
NM_001114134.2(EPB42):c.1696G>A (p.Ala566Thr)
NM_001114134.2(EPB42):c.175del (p.Val59fs) rs266257354
NM_001114134.2(EPB42):c.1782G>A (p.Met594Ile)
NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys)
NM_001114134.2(EPB42):c.1852A>T (p.Met618Leu)
NM_001114134.2(EPB42):c.1887del (p.Leu630fs)
NM_001114134.2(EPB42):c.196+6T>A rs515726214
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)
NM_001114134.2(EPB42):c.260G>A (p.Arg87Gln)
NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile) rs2142314789
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr) rs143682977
NM_001114134.2(EPB42):c.466A>G (p.Met156Val)
NM_001114134.2(EPB42):c.538G>C (p.Asp180His)
NM_001114134.2(EPB42):c.550-37_550-12dup rs368862301
NM_001114134.2(EPB42):c.718G>A (p.Ala240Thr)
NM_001114134.2(EPB42):c.860del (p.Arg287fs) rs515726213
NM_001114134.2(EPB42):c.872C>T (p.Thr291Met)
NM_001114134.2(EPB42):c.889G>A (p.Gly297Ser)
NM_001114134.2(EPB42):c.902G>A (p.Arg301His)
NM_001114134.2(EPB42):c.946G>A (p.Gly316Arg)
NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)
NM_001114134.2(EPB42):c.971+8G>A
NM_001114134.2(EPB42):c.971+8_971+9delinsAA rs2142290623
NM_001114134.2(EPB42):c.971+9C>A
NM_001114636.1(FANCL):c.-34T>C rs374960980
NM_001114636.1(FANCL):c.-39A>C rs41281511
NM_001114636.1(FANCL):c.-39A>G rs41281511
NM_001114636.1(FANCL):c.-40C>A rs199661008
NM_001114636.1(FANCL):c.-44C>T rs780348127
NM_001130053.5(EEF1D):c.1488+1G>A
NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys) rs1848131795
NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp)
NM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer)
NM_001142285.2(RPS24):c.659C>T (p.Ala220Val) rs530358175
NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg) rs1160029790
NM_001142864.2(PIEZO1):[c.3350C>T;c.6059C>T]
NM_001142864.2(PIEZO1):c.[1848+31C>G;2344G>A;2423G>A]
NM_001142864.4(PIEZO1):c.1020+14A>G rs956707579
NM_001142864.4(PIEZO1):c.1126C>G (p.Pro376Ala) rs1474972037
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) rs780119372
NM_001142864.4(PIEZO1):c.1195+36dup rs66881450
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter)
NM_001142864.4(PIEZO1):c.1557+16C>G rs734918
NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr) rs1597457977
NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2330-9_2330-2dup
NM_001142864.4(PIEZO1):c.2664+7del rs556884023
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) rs765257824
NM_001142864.4(PIEZO1):c.3026A>T (p.Gln1009Leu)
NM_001142864.4(PIEZO1):c.307C>T (p.Arg103Ter) rs759026521
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) rs1904821405
NM_001142864.4(PIEZO1):c.3198T>A (p.Asp1066Glu)
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001142864.4(PIEZO1):c.3785G>A (p.Gly1262Asp)
NM_001142864.4(PIEZO1):c.3969-5T>C rs4782429
NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro) rs587776990
NM_001142864.4(PIEZO1):c.4241A>G (p.His1414Arg)
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1]) rs11281795
NM_001142864.4(PIEZO1):c.5272G>C (p.Val1758Leu) rs753642385
NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=) rs8043924
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) rs3217718
NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln) rs753296407
NM_001142864.4(PIEZO1):c.5802-27G>A rs4401037
NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp)
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001142864.4(PIEZO1):c.6412T>G (p.Cys2138Gly)
NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg) rs587776987
NM_001142864.4(PIEZO1):c.7316+21del rs3214887
NM_001142864.4(PIEZO1):c.7348_7359dup (p.Lys2453_Phe2454insValIleGlyLys)
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7380C>G (p.Ser2460Arg) rs1191735185
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His) rs774268616
NM_001142864.4(PIEZO1):c.848+17C>T rs8060643
NM_001142864.4(PIEZO1):c.849-5G>A rs1905373372
NM_001174125.2(SLC11A2):c.49+1757C>T rs1057516023
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=)
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr)
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly) rs1261199026
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)
NM_001243177.4(ALDOA):c.1248C>T (p.His416=)
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val)
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=) rs2072147536
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu)
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=) rs2151015694
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=)
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln) rs549146709
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro)
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys)
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His) rs201468609
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu) rs2151016133
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His) rs747482925
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=)
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys)
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile) rs2072169825
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu)
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=)
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly) rs121909533
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=)
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp)
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=)
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly) rs886051892
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu) rs2151018036
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met)
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val)
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys) rs121909534
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=)
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=)
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile)
NM_001243177.4(ALDOA):c.900T>C (p.His300=)
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
NM_001243177.4(ALDOA):c.951del (p.Ala318fs)
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg) rs2135485868
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=) rs72554634
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) rs80356713
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr) rs1057518042
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_001271696.3(ABCB7):c.168+69C>G rs1039123
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001271696.3(ABCB7):c.944+3A>G rs2081385144
NM_001319999.2(RACGAP1):c.1187T>A (p.Leu396Gln) rs1948102480
NM_001319999.2(RACGAP1):c.658A>G (p.Thr220Ala)
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg) rs1595696464
NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro) rs1595503440
NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)
NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)
NM_001330540.2(MMACHC):c.-90del
NM_001353812.2(ATP11C):c.1100A>G (p.Lys367Arg)
NM_001353812.2(ATP11C):c.1161A>T (p.Glu387Asp)
NM_001353812.2(ATP11C):c.116G>A (p.Arg39Lys)
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001353812.2(ATP11C):c.1265T>C (p.Ile422Thr)
NM_001353812.2(ATP11C):c.1520+6G>A
NM_001353812.2(ATP11C):c.1555T>A (p.Tyr519Asn)
NM_001353812.2(ATP11C):c.1574A>G (p.Gln525Arg)
NM_001353812.2(ATP11C):c.1666+2T>C rs2148723294
NM_001353812.2(ATP11C):c.1675C>G (p.Leu559Val)
NM_001353812.2(ATP11C):c.2114T>C (p.Ile705Thr)
NM_001353812.2(ATP11C):c.2159T>G (p.Ile720Arg)
NM_001353812.2(ATP11C):c.2353G>T (p.Val785Leu)
NM_001353812.2(ATP11C):c.2543C>T (p.Ser848Phe)
NM_001353812.2(ATP11C):c.2702C>T (p.Pro901Leu)
NM_001353812.2(ATP11C):c.2992A>G (p.Ile998Val)
NM_001353812.2(ATP11C):c.3056C>T (p.Thr1019Met)
NM_001353812.2(ATP11C):c.3063A>G (p.Ile1021Met)
NM_001353812.2(ATP11C):c.3175C>G (p.Gln1059Glu)
NM_001353812.2(ATP11C):c.354_357del (p.Asn118fs)
NM_001353812.2(ATP11C):c.995G>A (p.Arg332Gln)
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu) rs193298317
NM_001354741.2(PFKM):c.-81+1966C>T
NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter) rs2139621075
NM_001355436.2(SPTB):c.1182+2T>C rs2139613101
NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs) rs1555370967
NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)
NM_001355436.2(SPTB):c.146C>T (p.Ala49Val)
NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)
NM_001355436.2(SPTB):c.151G>T (p.Glu51Ter)
NM_001355436.2(SPTB):c.1591C>T (p.Gln531Ter)
NM_001355436.2(SPTB):c.1630dup (p.Met544fs)
NM_001355436.2(SPTB):c.1795+1G>A rs786204766
NM_001355436.2(SPTB):c.1908del (p.Lys637fs)
NM_001355436.2(SPTB):c.1912C>T (p.Arg638Ter) rs2139596300
NM_001355436.2(SPTB):c.1912del (p.Arg638fs) rs863223304
NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.2092del (p.Gln698fs)
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)
NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs)
NM_001355436.2(SPTB):c.2165C>A (p.Ser722Ter)
NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter) rs2139594261
NM_001355436.2(SPTB):c.2401C>T (p.His801Tyr)
NM_001355436.2(SPTB):c.2423del (p.Gly808fs)
NM_001355436.2(SPTB):c.2521C>T (p.Gln841Ter)
NM_001355436.2(SPTB):c.2647del (p.Leu883fs) rs2139592237
NM_001355436.2(SPTB):c.2659C>T (p.Gln887Ter)
NM_001355436.2(SPTB):c.2711T>C (p.Ile904Thr)
NM_001355436.2(SPTB):c.2749_2750del (p.Ser917fs)
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001355436.2(SPTB):c.3005G>A (p.Arg1002His)
NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)
NM_001355436.2(SPTB):c.3106del (p.Gln1036fs)
NM_001355436.2(SPTB):c.3106dup (p.Gln1036fs) rs2139567892
NM_001355436.2(SPTB):c.3351C>A (p.Tyr1117Ter)
NM_001355436.2(SPTB):c.3784_3787del (p.Lys1262fs) rs1594773586
NM_001355436.2(SPTB):c.3818_3832delinsGT (p.Asn1273fs) rs2139560811
NM_001355436.2(SPTB):c.3841C>T (p.Gln1281Ter)
NM_001355436.2(SPTB):c.3855+1G>A
NM_001355436.2(SPTB):c.3877A>T (p.Lys1293Ter) rs763084936
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter) rs2139555500
NM_001355436.2(SPTB):c.3986_4001del (p.Leu1329fs)
NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter) rs1566754467
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr) rs2082930394
NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001355436.2(SPTB):c.4368del (p.Ile1456fs)
NM_001355436.2(SPTB):c.4417C>T (p.Gln1473Ter)
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val) rs2139530241
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.467G>C (p.Arg156Pro)
NM_001355436.2(SPTB):c.472C>T (p.Gln158Ter)
NM_001355436.2(SPTB):c.474+1G>A
NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs)
NM_001355436.2(SPTB):c.4842+1G>C rs2139513700
NM_001355436.2(SPTB):c.4843-1G>C
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter) rs2139511447
NM_001355436.2(SPTB):c.493C>T (p.Gln165Ter)
NM_001355436.2(SPTB):c.4942C>T (p.Gln1648Ter)
NM_001355436.2(SPTB):c.4969G>T (p.Glu1657Ter)
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.5059dup (p.Glu1687fs)
NM_001355436.2(SPTB):c.5099del (p.Asp1700fs)
NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter)
NM_001355436.2(SPTB):c.5178+1G>A
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter) rs1480466529
NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter) rs200386310
NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)
NM_001355436.2(SPTB):c.5464G>T (p.Glu1822Ter)
NM_001355436.2(SPTB):c.5506_5507insCGTCCAGCCCTTCCACC (p.Arg1836fs)
NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter) rs1555367359
NM_001355436.2(SPTB):c.5737dup (p.Arg1913fs)
NM_001355436.2(SPTB):c.5788G>T (p.Glu1930Ter)
NM_001355436.2(SPTB):c.5794_5798+6del rs1555367318
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)
NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys) rs2082214097
NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg) rs121918646
NM_001355436.2(SPTB):c.6053C>G (p.Ala2018Gly) rs121918647
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6059_6060del (p.Val2020fs)
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro) rs1555366607
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile) rs1345709572
NM_001355436.2(SPTB):c.6135_6136dup (p.Lys2046fs) rs863223303
NM_001355436.2(SPTB):c.6177del (p.Ser2060fs) rs1594753904
NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly) rs1690651311
NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro) rs121918650
NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs) rs1555366592
NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln) rs2139479145
NM_001355436.2(SPTB):c.6269+3G>T rs863223302
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del) rs750154106
NM_001355436.2(SPTB):c.647+1G>A
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001355436.2(SPTB):c.6536_6537del (p.Val2179fs)
NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met) rs1555364746
NM_001355436.2(SPTB):c.6737C>T (p.Ala2246Val) rs1555364743
NM_001355436.2(SPTB):c.754G>A (p.Asp252Asn)
NM_001355436.2(SPTB):c.836A>C (p.Lys279Thr) rs770880582
NM_001355436.2(SPTB):c.85G>T (p.Glu29Ter)
NM_001355436.2(SPTB):c.999_1000del (p.Leu334fs)
NM_001358263.1(HK1):c.-270G>C rs397514654
NM_001358263.1(HK1):c.1A>T (p.Met1Leu) rs1589439508
NM_001358263.1(HK1):c.75+20336T>A rs769395943
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001360016.2(G6PD):c.*272G>A
NM_001360016.2(G6PD):c.*304T>C
NM_001360016.2(G6PD):c.*357G>A
NM_001360016.2(G6PD):c.1002C>T (p.Thr334=)
NM_001360016.2(G6PD):c.1006A>G (p.Thr336Ala)
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
NM_001360016.2(G6PD):c.1020C>T (p.Val340=)
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) rs137852338
NM_001360016.2(G6PD):c.1030G>A (p.Val344Met)
NM_001360016.2(G6PD):c.1051+11C>T rs1258960910
NM_001360016.2(G6PD):c.1052-16C>A
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val)
NM_001360016.2(G6PD):c.1053G>A (p.Gly351=) rs782533137
NM_001360016.2(G6PD):c.1053G>T (p.Gly351=)
NM_001360016.2(G6PD):c.1056G>A (p.Val352=)
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)
NM_001360016.2(G6PD):c.1067T>A (p.Leu356Gln)
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr)
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr)
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del)
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile) rs1557229736
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys) rs137852329
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu) rs1057518975
NM_001360016.2(G6PD):c.1098G>A (p.Lys366=) rs2070354836
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp) rs1421656710
NM_001360016.2(G6PD):c.1108A>C (p.Arg370=)
NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser)
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=)
NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val)
NM_001360016.2(G6PD):c.1139T>C (p.Ile380Thr)
NM_001360016.2(G6PD):c.1141T>C (p.Phe381Leu)
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu) rs2148328905
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln)
NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly)
NM_001360016.2(G6PD):c.1154G>T (p.Cys385Phe)
NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp)
NM_001360016.2(G6PD):c.1166A>G (p.Glu389Gly)
NM_001360016.2(G6PD):c.1175T>C (p.Ile392Thr)
NM_001360016.2(G6PD):c.1177C>G (p.Arg393Gly)
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys) rs2148328873
NM_001360016.2(G6PD):c.1182G>A (p.Val394=) rs2148328863
NM_001360016.2(G6PD):c.1183C>T (p.Gln395Ter)
NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala) rs2148328852
NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg) rs1557229683
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) rs1557229683
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) rs137852325
NM_001360016.2(G6PD):c.1193A>G (p.Glu398Gly)
NM_001360016.2(G6PD):c.1197C>T (p.Ala399=)
NM_001360016.2(G6PD):c.120+13C>G
NM_001360016.2(G6PD):c.120+14A>T
NM_001360016.2(G6PD):c.120+199dup rs781893284
NM_001360016.2(G6PD):c.120+2955A>G
NM_001360016.2(G6PD):c.120+3126T>C
NM_001360016.2(G6PD):c.120+7A>G rs369904290
NM_001360016.2(G6PD):c.120+9C>T rs886044853
NM_001360016.2(G6PD):c.1203C>T (p.Tyr401=) rs2148328821
NM_001360016.2(G6PD):c.1205C>A (p.Thr402Asn)
NM_001360016.2(G6PD):c.1206C>G (p.Thr402=)
NM_001360016.2(G6PD):c.1209G>A (p.Lys403=) rs1355739430
NM_001360016.2(G6PD):c.121-1792T>C
NM_001360016.2(G6PD):c.121-1813del
NM_001360016.2(G6PD):c.121-19C>A
NM_001360016.2(G6PD):c.121-2107T>C
NM_001360016.2(G6PD):c.121-2679C>G
NM_001360016.2(G6PD):c.121-4460del
NM_001360016.2(G6PD):c.121-4A>C
NM_001360016.2(G6PD):c.121-5C>T
NM_001360016.2(G6PD):c.1215G>A (p.Met405Ile)
NM_001360016.2(G6PD):c.1218C>T (p.Thr406=)
NM_001360016.2(G6PD):c.1220A>C (p.Lys407Thr)
NM_001360016.2(G6PD):c.1225C>T (p.Pro409Ser)
NM_001360016.2(G6PD):c.1226C>A (p.Pro409Gln)
NM_001360016.2(G6PD):c.1226C>G (p.Pro409Arg)
NM_001360016.2(G6PD):c.1227G>A (p.Pro409=) rs781879876
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala)
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser) rs1603411292
NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys)
NM_001360016.2(G6PD):c.1260G>A (p.Leu420=) rs2148328776
NM_001360016.2(G6PD):c.1266G>C (p.Leu422=) rs2148328772
NM_001360016.2(G6PD):c.1269C>T (p.Thr423=) rs2148328766
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys) rs1557229652
NM_001360016.2(G6PD):c.1283dup (p.Tyr428Ter)
NM_001360016.2(G6PD):c.1284C>A (p.Tyr428Ter)
NM_001360016.2(G6PD):c.1285A>G (p.Lys429Glu)
NM_001360016.2(G6PD):c.1287+7T>C
NM_001360016.2(G6PD):c.1288-11C>T
NM_001360016.2(G6PD):c.1288-12T>A rs2148328659
NM_001360016.2(G6PD):c.1288-13C>G
NM_001360016.2(G6PD):c.1288-14T>A
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1288-15C>T
NM_001360016.2(G6PD):c.1288-16A>C
NM_001360016.2(G6PD):c.1288-17C>G
NM_001360016.2(G6PD):c.1288-2A>T
NM_001360016.2(G6PD):c.1288-4A>G
NM_001360016.2(G6PD):c.1288-5C>T
NM_001360016.2(G6PD):c.1288-8C>A rs2148328644
NM_001360016.2(G6PD):c.1288-8C>T rs2148328644
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
NM_001360016.2(G6PD):c.1292T>G (p.Val431Gly)
NM_001360016.2(G6PD):c.1293G>A (p.Val431=)
NM_001360016.2(G6PD):c.1305C>T (p.Asp435=)
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys) rs2148328604
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1323C>T (p.Ile441=)
NM_001360016.2(G6PD):c.1324C>T (p.Leu442=)
NM_001360016.2(G6PD):c.1326G>A (p.Leu442=)
NM_001360016.2(G6PD):c.132C>G (p.Ala44=)
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val)
NM_001360016.2(G6PD):c.1342A>G (p.Ser448Gly)
NM_001360016.2(G6PD):c.1344C>T (p.Ser448=) rs2148328562
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr)
NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs)
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro) rs137852324
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu)
NM_001360016.2(G6PD):c.1364+10A>G
NM_001360016.2(G6PD):c.1364+15C>T rs2148328536
NM_001360016.2(G6PD):c.1364+16C>T
NM_001360016.2(G6PD):c.1364+17G>A
NM_001360016.2(G6PD):c.1364+18G>A
NM_001360016.2(G6PD):c.1365-19C>T
NM_001360016.2(G6PD):c.1365-5C>T rs886044905
NM_001360016.2(G6PD):c.1365-8C>A
NM_001360016.2(G6PD):c.1365-8C>T
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His)
NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val)
NM_001360016.2(G6PD):c.1371G>A (p.Glu457=)
NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe)
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys) rs2070346788
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His) rs72554665
NM_001360016.2(G6PD):c.1376del (p.Arg459fs) rs2070346743
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter) rs1603411214
NM_001360016.2(G6PD):c.1380G>C (p.Glu460Asp)
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr)
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser)
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)
NM_001360016.2(G6PD):c.1388G>T (p.Arg463Leu)
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001360016.2(G6PD):c.1402C>T (p.Leu468=)
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val) rs2148328385
NM_001360016.2(G6PD):c.1422G>A (p.Leu474=)
NM_001360016.2(G6PD):c.1422G>C (p.Leu474=) rs2148328378
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=)
NM_001360016.2(G6PD):c.1457+10G>A rs2148328331
NM_001360016.2(G6PD):c.1457+11G>C
NM_001360016.2(G6PD):c.1457+11G>T
NM_001360016.2(G6PD):c.1457+12G>A
NM_001360016.2(G6PD):c.1457+14G>T
NM_001360016.2(G6PD):c.1457+15G>A
NM_001360016.2(G6PD):c.1457+17G>A
NM_001360016.2(G6PD):c.1457+37_1458-10dup
NM_001360016.2(G6PD):c.1457+7_1458-43del
NM_001360016.2(G6PD):c.1457+9A>T
NM_001360016.2(G6PD):c.1458-13C>T rs371772243
NM_001360016.2(G6PD):c.1458-7T>A
NM_001360016.2(G6PD):c.1458-7T>C
NM_001360016.2(G6PD):c.1463G>T (p.Gly488Val)
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser) rs1603411177
NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu)
NM_001360016.2(G6PD):c.1467C>A (p.Pro489=) rs2148328181
NM_001360016.2(G6PD):c.1470G>C (p.Thr490=)
NM_001360016.2(G6PD):c.1478_1479insAGGAGGCAGA (p.Asp493fs)
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del)
NM_001360016.2(G6PD):c.1491G>A (p.Lys497=)
NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)
NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser)
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001360016.2(G6PD):c.1536C>G (p.Pro512=)
NM_001360016.2(G6PD):c.1536C>T (p.Pro512=)
NM_001360016.2(G6PD):c.1545C>T (p.Leu515=)
NM_001360016.2(G6PD):c.158+16C>T
NM_001360016.2(G6PD):c.158+17A>G
NM_001360016.2(G6PD):c.159-11C>T
NM_001360016.2(G6PD):c.159-16T>C
NM_001360016.2(G6PD):c.159-17C>T
NM_001360016.2(G6PD):c.159-3C>T
NM_001360016.2(G6PD):c.159-8G>T rs2148331979
NM_001360016.2(G6PD):c.165G>A (p.Leu55=)
NM_001360016.2(G6PD):c.168C>T (p.Phe56=) rs2148331964
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp)
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln)
NM_001360016.2(G6PD):c.179T>C (p.Leu60Pro)
NM_001360016.2(G6PD):c.185C>A (p.Pro62His)
NM_001360016.2(G6PD):c.185C>T (p.Pro62Leu)
NM_001360016.2(G6PD):c.187G>A (p.Glu63Lys)
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) rs199474830
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile) rs2070404146
NM_001360016.2(G6PD):c.197T>A (p.Phe66Tyr)
NM_001360016.2(G6PD):c.197T>G (p.Phe66Cys)
NM_001360016.2(G6PD):c.210T>C (p.Tyr70=)
NM_001360016.2(G6PD):c.219C>T (p.Ser73=)
NM_001360016.2(G6PD):c.21G>A (p.Leu7=)
NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
NM_001360016.2(G6PD):c.224T>C (p.Leu75Pro)
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile) rs2148331887
NM_001360016.2(G6PD):c.235G>C (p.Asp79His) rs2148331875
NM_001360016.2(G6PD):c.240C>A (p.Ile80=)
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)
NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
NM_001360016.2(G6PD):c.268-12C>T
NM_001360016.2(G6PD):c.268-13C>T
NM_001360016.2(G6PD):c.268-24TGTC[2]
NM_001360016.2(G6PD):c.268-6T>C
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)
NM_001360016.2(G6PD):c.270C>T (p.Ala90=)
NM_001360016.2(G6PD):c.273C>G (p.Thr91=)
NM_001360016.2(G6PD):c.274C>T (p.Pro92Ser)
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
NM_001360016.2(G6PD):c.283_285del (p.Lys95del)
NM_001360016.2(G6PD):c.290A>T (p.Lys97Met)
NM_001360016.2(G6PD):c.297G>A (p.Glu99=) rs2070395767
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser) rs886044847
NM_001360016.2(G6PD):c.30C>A (p.Thr10=) rs982197712
NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys)
NM_001360016.2(G6PD):c.312C>T (p.Arg104=)
NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe)
NM_001360016.2(G6PD):c.318C>G (p.Ser106=)
NM_001360016.2(G6PD):c.318C>T (p.Ser106=) rs2148331419
NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter)
NM_001360016.2(G6PD):c.321T>C (p.Tyr107=) rs2148331412
NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)
NM_001360016.2(G6PD):c.345A>G (p.Ala115=)
NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)
NM_001360016.2(G6PD):c.347C>T (p.Ala116Val)
NM_001360016.2(G6PD):c.348C>T (p.Ala116=)
NM_001360016.2(G6PD):c.34G>A (p.Val12Met)
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)
NM_001360016.2(G6PD):c.352T>C (p.Tyr118His)
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser) rs2148331380
NM_001360016.2(G6PD):c.356A>C (p.Gln119Pro)
NM_001360016.2(G6PD):c.359G>A (p.Arg120His) rs782820967
NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu) rs782820967
NM_001360016.2(G6PD):c.371A>G (p.His124Arg)
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) rs78365220
NM_001360016.2(G6PD):c.384C>T (p.Leu128=) rs2148331335
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)
NM_001360016.2(G6PD):c.414C>T (p.Phe138=) rs2148331303
NM_001360016.2(G6PD):c.418C>T (p.Leu140=)
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)
NM_001360016.2(G6PD):c.423C>G (p.Ala141=) rs782627357
NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser)
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys)
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) rs1557230573
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
NM_001360016.2(G6PD):c.465C>T (p.His155=)
NM_001360016.2(G6PD):c.472T>G (p.Cys158Gly)
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr)
NM_001360016.2(G6PD):c.485+12C>T
NM_001360016.2(G6PD):c.485+14T>C
NM_001360016.2(G6PD):c.485+15T>A
NM_001360016.2(G6PD):c.485+17C>T
NM_001360016.2(G6PD):c.485+184del
NM_001360016.2(G6PD):c.485+3A>G
NM_001360016.2(G6PD):c.486-10C>T
NM_001360016.2(G6PD):c.486-17C>T
NM_001360016.2(G6PD):c.486-17del
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.486-6C>T
NM_001360016.2(G6PD):c.488G>A (p.Gly163Asp)
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
NM_001360016.2(G6PD):c.499A>T (p.Ile167Phe)
NM_001360016.2(G6PD):c.501C>T (p.Ile167=)
NM_001360016.2(G6PD):c.504C>T (p.Ile168=)
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)
NM_001360016.2(G6PD):c.510G>A (p.Glu170=)
NM_001360016.2(G6PD):c.514C>T (p.Pro172Ser)
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
NM_001360016.2(G6PD):c.527A>G (p.Asp176Gly)
NM_001360016.2(G6PD):c.536G>A (p.Ser179Asn)
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
NM_001360016.2(G6PD):c.546G>C (p.Arg182=)
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)
NM_001360016.2(G6PD):c.558C>T (p.His186=)
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val)
NM_001360016.2(G6PD):c.562TCC[1] (p.Ser189del)
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu)
NM_001360016.2(G6PD):c.575G>A (p.Arg192His)
NM_001360016.2(G6PD):c.582C>T (p.Asp194=)
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg)
NM_001360016.2(G6PD):c.585G>A (p.Gln195=)
NM_001360016.2(G6PD):c.585G>C (p.Gln195His)
NM_001360016.2(G6PD):c.586A>T (p.Ile196Phe)
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser)
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn)
NM_001360016.2(G6PD):c.606C>T (p.Tyr202=)
NM_001360016.2(G6PD):c.60T>C (p.Leu20=)
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp) rs2148330566
NM_001360016.2(G6PD):c.633C>G (p.Leu211=) rs781866029
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
NM_001360016.2(G6PD):c.644+10A>G
NM_001360016.2(G6PD):c.644+19C>T
NM_001360016.2(G6PD):c.644+6G>A
NM_001360016.2(G6PD):c.644+7C>T
NM_001360016.2(G6PD):c.644+9A>C rs1279844136
NM_001360016.2(G6PD):c.645-10C>G
NM_001360016.2(G6PD):c.645-14G>T
NM_001360016.2(G6PD):c.645-3C>T
NM_001360016.2(G6PD):c.645-8_645-5del rs782160396
NM_001360016.2(G6PD):c.645-9T>C rs2148330346
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
NM_001360016.2(G6PD):c.672C>T (p.Ile224=) rs2148330315
NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp)
NM_001360016.2(G6PD):c.683ACA[1] (p.Asn229del)
NM_001360016.2(G6PD):c.687C>T (p.Asn229=)
NM_001360016.2(G6PD):c.691G>C (p.Ala231Pro)
NM_001360016.2(G6PD):c.693C>T (p.Ala231=)
NM_001360016.2(G6PD):c.695G>A (p.Cys232Tyr)
NM_001360016.2(G6PD):c.697G>C (p.Val233Leu)
NM_001360016.2(G6PD):c.701T>C (p.Ile234Thr)
NM_001360016.2(G6PD):c.713A>G (p.Lys238Arg)
NM_001360016.2(G6PD):c.720C>T (p.Pro240=) rs2148330281
NM_001360016.2(G6PD):c.725_730del (p.Gly242_Thr243del)
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu) rs1557233192
NM_001360016.2(G6PD):c.737G>T (p.Arg246Leu)
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)
NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp)
NM_001360016.2(G6PD):c.753T>C (p.Asp251=)
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) rs2070375134
NM_001360016.2(G6PD):c.770+12T>C
NM_001360016.2(G6PD):c.770+8C>T
NM_001360016.2(G6PD):c.770G>A (p.Arg257Gln)
NM_001360016.2(G6PD):c.770G>T (p.Arg257Leu)
NM_001360016.2(G6PD):c.771-13C>A
NM_001360016.2(G6PD):c.771-13C>T
NM_001360016.2(G6PD):c.771-20C>G
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)
NM_001360016.2(G6PD):c.786C>T (p.Asn262=) rs1179691681
NM_001360016.2(G6PD):c.78C>T (p.Phe26=) rs1487624588
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)
NM_001360016.2(G6PD):c.804G>A (p.Leu268=)
NM_001360016.2(G6PD):c.811G>C (p.Val271Leu)
NM_001360016.2(G6PD):c.820G>A (p.Glu274Lys)
NM_001360016.2(G6PD):c.821A>T (p.Glu274Val)
NM_001360016.2(G6PD):c.825G>C (p.Lys275Asn)
NM_001360016.2(G6PD):c.826C>T (p.Pro276Ser)
NM_001360016.2(G6PD):c.827C>T (p.Pro276Leu)
NM_001360016.2(G6PD):c.828C>T (p.Pro276=)
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser) rs1557230050
NM_001360016.2(G6PD):c.832T>C (p.Ser278Pro)
NM_001360016.2(G6PD):c.833C>T (p.Ser278Phe)
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001360016.2(G6PD):c.840C>T (p.Asn280=)
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr)
NM_001360016.2(G6PD):c.848A>G (p.Asp283Gly)
NM_001360016.2(G6PD):c.849C>T (p.Asp283=)
NM_001360016.2(G6PD):c.84G>T (p.Gln28His)
NM_001360016.2(G6PD):c.851T>C (p.Val284Ala)
NM_001360016.2(G6PD):c.853C>T (p.Arg285Cys)
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly) rs2148329856
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys) rs387906471
NM_001360016.2(G6PD):c.864+10G>T rs2070368182
NM_001360016.2(G6PD):c.864+13C>T
NM_001360016.2(G6PD):c.864+16C>G
NM_001360016.2(G6PD):c.864+17A>G
NM_001360016.2(G6PD):c.864+43G>A
NM_001360016.2(G6PD):c.864+44del
NM_001360016.2(G6PD):c.864+7G>A rs782256985
NM_001360016.2(G6PD):c.864+8dup rs782714017
NM_001360016.2(G6PD):c.865-18C>T
NM_001360016.2(G6PD):c.867C>T (p.Val289=)
NM_001360016.2(G6PD):c.87G>A (p.Ser29=)
NM_001360016.2(G6PD):c.882del (p.Lys293_Cys294insTer)
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
NM_001360016.2(G6PD):c.894G>T (p.Val298=)
NM_001360016.2(G6PD):c.909G>A (p.Val303=)
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
NM_001360016.2(G6PD):c.910G>T (p.Val304Phe)
NM_001360016.2(G6PD):c.915G>A (p.Leu305=)
NM_001360016.2(G6PD):c.916G>A (p.Gly306Ser)
NM_001360016.2(G6PD):c.920A>C (p.Gln307Pro)
NM_001360016.2(G6PD):c.921G>C (p.Gln307His)
NM_001360016.2(G6PD):c.924C>T (p.Tyr308=)
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn)
NM_001360016.2(G6PD):c.939T>C (p.Asp313=)
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp) rs2148329357
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp)
NM_001360016.2(G6PD):c.94C>G (p.His32Asp)
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr) rs2070702973
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
NM_001360016.2(G6PD):c.969G>A (p.Leu323=) rs2148329332
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly)
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
NM_001360016.2(G6PD):c.995C>T (p.Ser332Phe)
NM_001360016.2(G6PD):c.997ACC[1] (p.Thr334del)
NM_001360016.2(G6PD):c.[1037A>T;637G>T]
NM_001360016.2(G6PD):c.[1048G>C;406C>T]
NM_001360016.2(G6PD):c.[1106T>C;499A>T]
NM_001360016.2(G6PD):c.[1116G>A;1311=]
NM_001360016.2(G6PD):c.[1159C>T;376A>G]
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]
NM_001360016.2(G6PD):c.[1347G>C;1360C>T]
NM_001360016.2(G6PD):c.[1376G>T;1502T>G]
NM_001360016.2(G6PD):c.[143T>C;202G>A]
NM_001360016.2(G6PD):c.[143T>C;563C>T]
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]
NM_001360016.2(G6PD):c.[202G>A;563C>T]
NM_001360016.2(G6PD):c.[202G>A;871G>A]
NM_001360016.2(G6PD):c.[311G>A;376A>G]
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]
NM_001360016.2(G6PD):c.[376A>G;463C>G]
NM_001360016.2(G6PD):c.[376A>G;563C>T]
NM_001360016.2(G6PD):c.[376A>G;680G>T]
NM_001360016.2(G6PD):c.[376A>G;871G>A]
NM_001360016.2(G6PD):c.[376A>G;968T>C]
NM_001360016.2(G6PD):c.[769C>A;770G>T]
NM_001365304.2(LOC112694756):c.*1049+12G>A
NM_001365304.2(LOC112694756):c.*1049+17T>C
NM_001365304.2(LOC112694756):c.*1049+20A>G
NM_001365304.2(LOC112694756):c.*1049+3G>A rs2072219927
NM_001365304.2(LOC112694756):c.*1049+7C>T
NM_001365304.2(LOC112694756):c.*1049+8T>C
NM_001365304.2(LOC112694756):c.*1050-10C>T
NM_001365304.2(LOC112694756):c.*1050-12C>T
NM_001365304.2(LOC112694756):c.*1050-7C>T
NM_001365304.2(LOC112694756):c.*1050-9G>A
NM_001365304.2(LOC112694756):c.*1133+11A>G
NM_001365304.2(LOC112694756):c.*1133+2T>C
NM_001365304.2(LOC112694756):c.*1134-12G>C
NM_001365304.2(LOC112694756):c.*1134-17C>T
NM_001365304.2(LOC112694756):c.*1134-2A>G
NM_001365304.2(LOC112694756):c.*1134-4C>T
NM_001365304.2(LOC112694756):c.*1308+15C>T
NM_001365304.2(LOC112694756):c.*1308+17T>C rs566755208
NM_001365304.2(LOC112694756):c.*1309-2dup
NM_001365304.2(LOC112694756):c.*1309-7T>G
NM_001365304.2(LOC112694756):c.*1309-8C>T
NM_001365304.2(LOC112694756):c.*1508+9A>T
NM_001365304.2(LOC112694756):c.*1508+9_*1508+19dup
NM_001365304.2(LOC112694756):c.*1509-11T>C
NM_001365304.2(LOC112694756):c.*1509-14C>A
NM_001365304.2(LOC112694756):c.*1509-14C>T
NM_001365304.2(LOC112694756):c.*1509-16C>T
NM_001365304.2(LOC112694756):c.*1509-17C>T
NM_001365304.2(LOC112694756):c.*1509-18A>T
NM_001365304.2(LOC112694756):c.*622-11G>C
NM_001365304.2(LOC112694756):c.*622-15A>G
NM_001365304.2(LOC112694756):c.*622-3del
NM_001365304.2(LOC112694756):c.*622-9C>G
NM_001365304.2(LOC112694756):c.*833+10G>A
NM_001365304.2(LOC112694756):c.*833+16C>T
NM_001365304.2(LOC112694756):c.*833+17C>G rs78209292
NM_001365304.2(LOC112694756):c.*833+17C>T
NM_001365304.2(LOC112694756):c.*833+18G>A
NM_001365304.2(LOC112694756):c.*833+19G>A
NM_001365304.2(LOC112694756):c.*833+9A>C
NM_001365304.2(LOC112694756):c.*834-14C>T
NM_001365304.2(LOC112694756):c.*834-19G>A
NM_001365304.2(LOC112694756):c.*888+17del rs886051891
NM_001365304.2(LOC112694756):c.*888+8C>T
NM_001365304.2(LOC112694756):c.*889-3T>C
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367805.3(KIF23):c.1228C>G (p.Leu410Val)
NM_001367805.3(KIF23):c.1358C>G (p.Ala453Gly)
NM_001367805.3(KIF23):c.1400G>A (p.Arg467Lys)
NM_001367805.3(KIF23):c.1664A>G (p.Gln555Arg)
NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)
NM_001367805.3(KIF23):c.2089G>A (p.Val697Ile) rs376569877
NM_001367805.3(KIF23):c.2089G>C (p.Val697Leu)
NM_001367805.3(KIF23):c.211A>G (p.Thr71Ala)
NM_001367805.3(KIF23):c.2222C>T (p.Ser741Leu)
NM_001367805.3(KIF23):c.2237A>C (p.Lys746Thr)
NM_001367805.3(KIF23):c.2242C>T (p.Pro748Ser)
NM_001367805.3(KIF23):c.2334A>T (p.Arg778Ser)
NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)
NM_001367805.3(KIF23):c.2452C>T (p.Pro818Ser)
NM_001367805.3(KIF23):c.2479C>T (p.Arg827Cys)
NM_001367805.3(KIF23):c.2482T>A (p.Ser828Thr)
NM_001367805.3(KIF23):c.2501T>C (p.Val834Ala)
NM_001367805.3(KIF23):c.2789C>G (p.Pro930Arg) rs2140422904
NM_001367805.3(KIF23):c.2875del (p.Leu959fs) rs2140424959
NM_001367805.3(KIF23):c.497A>C (p.Glu166Ala)
NM_001367805.3(KIF23):c.537G>A (p.Met179Ile)
NM_001367805.3(KIF23):c.560G>A (p.Ser187Asn)
NM_001367805.3(KIF23):c.844G>A (p.Val282Ile)
NM_001367805.3(KIF23):c.952G>T (p.Val318Leu)
NM_001367805.3(KIF23):c.999C>A (p.Asp333Glu)
NM_001372327.1(SLC29A1):c.1159A>C (p.Thr387Pro) rs1131690802
NM_001374504.1(TMPRSS6):c.*251T>A rs1926220781
NM_001374504.1(TMPRSS6):c.*72G>T rs146358284
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)
NM_001374504.1(TMPRSS6):c.1069T>C (p.Cys357Arg) rs886057492
NM_001374504.1(TMPRSS6):c.1152T>G (p.Tyr384Ter) rs137853122
NM_001374504.1(TMPRSS6):c.124C>T (p.Leu42Phe) rs747170531
NM_001374504.1(TMPRSS6):c.1309C>G (p.Arg437Gly) rs117576908
NM_001374504.1(TMPRSS6):c.1310_1315del (p.Arg437_Val438del) rs1927509977
NM_001374504.1(TMPRSS6):c.1355A>G (p.Glu452Gly) rs865982171
NM_001374504.1(TMPRSS6):c.143T>A (p.Phe48Tyr) rs745388319
NM_001374504.1(TMPRSS6):c.1441+15C>T rs111807510
NM_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr) rs2146057214
NM_001374504.1(TMPRSS6):c.1555+1G>A rs786205058
NM_001374504.1(TMPRSS6):c.163G>T (p.Val55Leu) rs1298407272
NM_001374504.1(TMPRSS6):c.1651G>A (p.Gly551Ser) rs375396615
NM_001374504.1(TMPRSS6):c.1786del (p.Ala596fs) rs767094129
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2] rs60484081
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[5] rs60484081
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=) rs1926663670
NM_001374504.1(TMPRSS6):c.1999C>T (p.His667Tyr) rs1359150426
NM_001374504.1(TMPRSS6):c.2014T>C (p.Ser672Pro) rs1384127820
NM_001374504.1(TMPRSS6):c.2028_2031dup (p.Val678fs) rs786205060
NM_001374504.1(TMPRSS6):c.207C>G (p.Tyr69Ter) rs1569024289
NM_001374504.1(TMPRSS6):c.2113+1G>C rs786205059
NM_001374504.1(TMPRSS6):c.2128G>A (p.Ala710Thr)
NM_001374504.1(TMPRSS6):c.251G>C (p.Arg84Pro) rs750512709
NM_001374504.1(TMPRSS6):c.336+2T>G rs1930010425
NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=) rs964576902
NM_001374504.1(TMPRSS6):c.631+46A>G rs2743824
NM_001374504.1(TMPRSS6):c.65C>T (p.Ala22Val)
NM_001374504.1(TMPRSS6):c.752G>T (p.Arg251Leu) rs749277509
NM_001374504.1(TMPRSS6):c.780G>A (p.Arg260=) rs1391985221
NM_001374504.1(TMPRSS6):c.836+1G>A
NM_001374504.1(TMPRSS6):c.928T>C (p.Tyr310His) rs916375086
NM_001374504.1(TMPRSS6):c.957_958insGGAGACC (p.Pro320fs) rs1569012596
NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)
NM_001376013.1(EPB41):c.1071_1077del (p.Asn358fs) rs869025285
NM_001376013.1(EPB41):c.1102A>G (p.Met368Val) rs2096603473
NM_001376013.1(EPB41):c.1175del (p.Lys392fs) rs2150273700
NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)
NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)
NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln)
NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)
NM_001376013.1(EPB41):c.1604C>T (p.Ala535Val)
NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs) rs2150754040
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)
NM_001376013.1(EPB41):c.1838C>A (p.Ala613Glu)
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter) rs2151005632
NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)
NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg)
NM_001376013.1(EPB41):c.2269A>G (p.Ile757Val)
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)
NM_001376013.1(EPB41):c.2438A>G (p.Glu813Gly)
NM_001376013.1(EPB41):c.2444G>A (p.Arg815His)
NM_001376013.1(EPB41):c.2536C>G (p.Pro846Ala)
NM_001376013.1(EPB41):c.2566C>T (p.His856Tyr)
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.415C>T (p.Leu139Phe)
NM_001376013.1(EPB41):c.426C>T (p.Asp142=) rs2149522654
NM_001376013.1(EPB41):c.629T>C (p.Met210Thr) rs121434564
NM_001376013.1(EPB41):c.629T>G (p.Met210Arg) rs121434564
NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter) rs1160118901
NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)
NM_001376013.1(EPB41):c.763A>G (p.Ile255Val)
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)
NM_001376013.1(EPB41):c.776C>T (p.Ala259Val) rs2149686920
NM_001376013.1(EPB41):c.832G>A (p.Val278Ile)
NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr)
NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile)
NM_001386140.1(MTTP):c.*1003T>C rs796899519
NM_001386140.1(MTTP):c.*1044G>T rs886058965
NM_001386140.1(MTTP):c.*219G>A rs1358012798
NM_001386140.1(MTTP):c.*41A>G rs886058959
NM_001386140.1(MTTP):c.*434G>A rs1358561776
NM_001386140.1(MTTP):c.*454dup rs545365701
NM_001386140.1(MTTP):c.*474T>C rs960894922
NM_001386140.1(MTTP):c.*517A>T rs886058964
NM_001386140.1(MTTP):c.*55G>C rs192882987
NM_001386140.1(MTTP):c.*82G>A rs886058960
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val) rs137956833
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter) rs1725580386
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter) rs1725671165
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
NM_001386140.1(MTTP):c.1233C>T (p.Leu411=) rs1179169124
NM_001386140.1(MTTP):c.1237-1G>A rs1560621444
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)
NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His) rs1560621495
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter) rs1486643983
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter) rs1725702758
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter) rs1725826321
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
NM_001386140.1(MTTP):c.1558-2A>G rs1553927840
NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu) rs72681995
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile) rs2110230166
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) rs1725885571
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter) rs1725886004
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr) rs1368249156
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
NM_001386140.1(MTTP):c.1769+12T>C rs767162951
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.1770-10T>C rs1194740423
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln) rs746293101
NM_001386140.1(MTTP):c.1868-6C>T rs772185759
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter) rs1725953201
NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter) rs1725996321
NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter) rs1726001209
NM_001386140.1(MTTP):c.215del (p.Pro72fs) rs1560614154
NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr) rs767606327
NM_001386140.1(MTTP):c.2212del (p.Ser738fs) rs755681036
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu) rs767833468
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter) rs1726166189
NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=) rs1578257313
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter) rs777548973
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001386140.1(MTTP):c.2340T>C (p.Asn780=) rs1578257346
NM_001386140.1(MTTP):c.2342+1G>A
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala) rs780797954
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly) rs780797954
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys) rs1726222895
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=) rs1272679414
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter) rs1726269709
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp) rs2110239476
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val) rs1726272076
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter) rs1725178752
NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) rs762901763
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser) rs867316992
NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001386140.1(MTTP):c.501+1G>A rs2110217173
NM_001386140.1(MTTP):c.502-2A>G rs1725410386
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr) rs1724921174
NM_001386140.1(MTTP):c.543T>G (p.His181Gln) rs150319930
NM_001386140.1(MTTP):c.546del (p.Asp183fs)
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter) rs1725413862
NM_001386140.1(MTTP):c.640del (p.Ala214fs) rs2110218614
NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
NM_001386140.1(MTTP):c.708_709del (p.His236fs) rs1553926818
NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
NM_001386140.1(MTTP):c.759G>A (p.Lys253=) rs1725509234
NM_001386140.1(MTTP):c.75dup (p.Leu26fs)
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter) rs1283854712
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser) rs1037319735
NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met) rs566965111
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter) rs1725516307
NM_001386140.1(MTTP):c.927G>A (p.Arg309=) rs1001965936
NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)
NM_001701.4(BAAT):c.858C>G (p.Ser286=) rs80356746
NM_001701.4(BAAT):c.967A>G (p.Ile323Val) rs80356747
NM_001724.5(BPGM):c.461G>A (p.Arg154Gln)
NM_001724.5(BPGM):c.61del (p.Arg21fs) rs786205092
NM_001724.5(BPGM):c.62G>A (p.Arg21His)
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter) rs1569078784
NM_001849.4(COL6A2):c.*119A>G rs1043962
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_002049.4(GATA1):c.-4_21del (p.Met1fs)
NM_002049.4(GATA1):c.1005G>A (p.Met335Ile)
NM_002049.4(GATA1):c.1017G>C (p.Gly339=)
NM_002049.4(GATA1):c.1019G>A (p.Gly340Asp)
NM_002049.4(GATA1):c.1023C>T (p.Ser341=)
NM_002049.4(GATA1):c.1030G>A (p.Gly344Arg)
NM_002049.4(GATA1):c.1036T>C (p.Cys346Arg) rs2147307619
NM_002049.4(GATA1):c.1043A>C (p.Glu348Ala)
NM_002049.4(GATA1):c.1056C>T (p.Gly352=)
NM_002049.4(GATA1):c.1059G>C (p.Leu353=) rs2147307659
NM_002049.4(GATA1):c.105dup (p.Ser36fs) rs1273620943
NM_002049.4(GATA1):c.1066G>A (p.Gly356Ser)
NM_002049.4(GATA1):c.1067G>T (p.Gly356Val) rs202091014
NM_002049.4(GATA1):c.1068C>A (p.Gly356=)
NM_002049.4(GATA1):c.107C>T (p.Ser36Phe)
NM_002049.4(GATA1):c.1086T>C (p.His362=)
NM_002049.4(GATA1):c.1092C>G (p.Tyr364Ter) rs1557020612
NM_002049.4(GATA1):c.1096G>A (p.Gly366Ser)
NM_002049.4(GATA1):c.1097G>T (p.Gly366Val)
NM_002049.4(GATA1):c.1102G>A (p.Gly368Ser)
NM_002049.4(GATA1):c.1102G>C (p.Gly368Arg)
NM_002049.4(GATA1):c.1111G>A (p.Val371Met)
NM_002049.4(GATA1):c.1135C>G (p.Leu379Val)
NM_002049.4(GATA1):c.1146C>T (p.Phe382=)
NM_002049.4(GATA1):c.1152A>C (p.Gly384=)
NM_002049.4(GATA1):c.1159C>T (p.Leu387=)
NM_002049.4(GATA1):c.1160T>C (p.Leu387Pro)
NM_002049.4(GATA1):c.1168C>G (p.Pro390Ala)
NM_002049.4(GATA1):c.1175G>A (p.Gly392Asp)
NM_002049.4(GATA1):c.1177T>C (p.Ser393Pro) rs2147307800
NM_002049.4(GATA1):c.1179C>T (p.Ser393=) rs781868016
NM_002049.4(GATA1):c.117G>A (p.Glu39=)
NM_002049.4(GATA1):c.1185C>G (p.Pro395=)
NM_002049.4(GATA1):c.1188A>C (p.Thr396=) rs2147307813
NM_002049.4(GATA1):c.1191C>T (p.Gly397=)
NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)
NM_002049.4(GATA1):c.1197G>A (p.Met399Ile)
NM_002049.4(GATA1):c.1198C>T (p.Pro400Ser)
NM_002049.4(GATA1):c.1200_1217del (p.Pro401_Thr406del)
NM_002049.4(GATA1):c.1201C>A (p.Pro401Thr)
NM_002049.4(GATA1):c.1215T>A (p.Thr405=)
NM_002049.4(GATA1):c.1218T>C (p.Thr406=)
NM_002049.4(GATA1):c.1229C>T (p.Pro410Leu)
NM_002049.4(GATA1):c.122T>G (p.Leu41Trp)
NM_002049.4(GATA1):c.122_165del (p.Leu41fs)
NM_002049.4(GATA1):c.1236C>A (p.Ser412Arg)
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.4(GATA1):c.125_146del (p.Asp42fs)
NM_002049.4(GATA1):c.143C>A (p.Thr48Asn)
NM_002049.4(GATA1):c.145G>A (p.Ala49Thr) rs781856701
NM_002049.4(GATA1):c.147C>A (p.Ala49=) rs2147305674
NM_002049.4(GATA1):c.149C>G (p.Pro50Arg)
NM_002049.4(GATA1):c.152G>A (p.Ser51Asn) rs2062674054
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)
NM_002049.4(GATA1):c.156A>C (p.Thr52=)
NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs) rs2147305695
NM_002049.4(GATA1):c.160A>T (p.Thr54Ser)
NM_002049.4(GATA1):c.162_164del (p.Ala59del)
NM_002049.4(GATA1):c.164C>T (p.Ala55Val)
NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)
NM_002049.4(GATA1):c.166G>A (p.Ala56Thr)
NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs) rs1602219139
NM_002049.4(GATA1):c.169_170insTG (p.Ala57fs)
NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)
NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs) rs2147305721
NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)
NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)
NM_002049.4(GATA1):c.192_196del (p.Arg64fs) rs2147305736
NM_002049.4(GATA1):c.194_206del (p.Asp65fs)
NM_002049.4(GATA1):c.196G>A (p.Ala66Thr)
NM_002049.4(GATA1):c.196G>C (p.Ala66Pro) rs149753411
NM_002049.4(GATA1):c.19G>C (p.Gly7Arg)
NM_002049.4(GATA1):c.207C>T (p.Tyr69=) rs1602219215
NM_002049.4(GATA1):c.209G>C (p.Arg70Thr)
NM_002049.4(GATA1):c.210A>G (p.Arg70=)
NM_002049.4(GATA1):c.211C>T (p.His71Tyr) rs2147305769
NM_002049.4(GATA1):c.212A>C (p.His71Pro) rs374300356
NM_002049.4(GATA1):c.212A>G (p.His71Arg) rs374300356
NM_002049.4(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.4(GATA1):c.220+13A>C rs2147305801
NM_002049.4(GATA1):c.220+1G>A rs1569499366
NM_002049.4(GATA1):c.220+1G>C rs1569499366
NM_002049.4(GATA1):c.220+1G>T
NM_002049.4(GATA1):c.220+1del rs587776453
NM_002049.4(GATA1):c.220+5C>T
NM_002049.4(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.4(GATA1):c.221-20T>A
NM_002049.4(GATA1):c.221-3C>T
NM_002049.4(GATA1):c.224T>G (p.Phe75Cys)
NM_002049.4(GATA1):c.230T>G (p.Val77Gly) rs2147306078
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs) rs2147306077
NM_002049.4(GATA1):c.234C>T (p.Tyr78=)
NM_002049.4(GATA1):c.242T>C (p.Leu81Pro) rs1557020166
NM_002049.4(GATA1):c.251T>C (p.Met84Thr)
NM_002049.4(GATA1):c.253G>A (p.Glu85Lys)
NM_002049.4(GATA1):c.256G>A (p.Gly86Arg)
NM_002049.4(GATA1):c.258G>T (p.Gly86=)
NM_002049.4(GATA1):c.265G>A (p.Gly89Arg)
NM_002049.4(GATA1):c.276A>G (p.Pro92=)
NM_002049.4(GATA1):c.279T>C (p.Tyr93=)
NM_002049.4(GATA1):c.290C>T (p.Ala97Val) rs2147306181
NM_002049.4(GATA1):c.291C>A (p.Ala97=)
NM_002049.4(GATA1):c.294C>T (p.Tyr98=)
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.4(GATA1):c.300G>C (p.Lys100Asn)
NM_002049.4(GATA1):c.308T>C (p.Leu103Pro)
NM_002049.4(GATA1):c.322A>T (p.Thr108Ser)
NM_002049.4(GATA1):c.327G>A (p.Val109=)
NM_002049.4(GATA1):c.338G>A (p.Arg113His)
NM_002049.4(GATA1):c.338G>T (p.Arg113Leu) rs782208453
NM_002049.4(GATA1):c.339C>T (p.Arg113=)
NM_002049.4(GATA1):c.340G>A (p.Glu114Lys)
NM_002049.4(GATA1):c.345C>T (p.Asp115=)
NM_002049.4(GATA1):c.347C>G (p.Ser116Cys)
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.364G>A (p.Glu122Lys)
NM_002049.4(GATA1):c.372G>A (p.Leu124=)
NM_002049.4(GATA1):c.39G>A (p.Glu13=) rs2147305570
NM_002049.4(GATA1):c.3G>T (p.Met1Ile) rs2147305526
NM_002049.4(GATA1):c.413C>T (p.Thr138Ile) rs2147306456
NM_002049.4(GATA1):c.416A>G (p.Glu139Gly)
NM_002049.4(GATA1):c.41C>A (p.Pro14His)
NM_002049.4(GATA1):c.41C>T (p.Pro14Leu)
NM_002049.4(GATA1):c.428C>T (p.Pro143Leu)
NM_002049.4(GATA1):c.432C>T (p.Asp144=)
NM_002049.4(GATA1):c.446G>A (p.Gly149Glu)
NM_002049.4(GATA1):c.480T>G (p.Asn160Lys) rs143332634
NM_002049.4(GATA1):c.484G>A (p.Ala162Thr)
NM_002049.4(GATA1):c.48C>A (p.Pro16=)
NM_002049.4(GATA1):c.494G>A (p.Gly165Asp)
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) rs2062673523
NM_002049.4(GATA1):c.507C>T (p.Ser169=)
NM_002049.4(GATA1):c.510T>G (p.Ser170Arg)
NM_002049.4(GATA1):c.51G>C (p.Gln17His)
NM_002049.4(GATA1):c.528C>T (p.Thr176=)
NM_002049.4(GATA1):c.529G>A (p.Gly177Arg) rs1482381233
NM_002049.4(GATA1):c.548C>T (p.Ala183Val)
NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)
NM_002049.4(GATA1):c.561T>C (p.Ser187=) rs2147306665
NM_002049.4(GATA1):c.572G>A (p.Arg191His)
NM_002049.4(GATA1):c.579T>C (p.Thr193=)
NM_002049.4(GATA1):c.580C>G (p.Leu194Val)
NM_002049.4(GATA1):c.595T>C (p.Cys199Arg) rs782750237
NM_002049.4(GATA1):c.598+14A>T
NM_002049.4(GATA1):c.599-16_599-14del rs782736246
NM_002049.4(GATA1):c.599A>C (p.Glu200Ala)
NM_002049.4(GATA1):c.5_8dup (p.Phe3fs) rs1602218917
NM_002049.4(GATA1):c.613G>A (p.Val205Met) rs104894815
NM_002049.4(GATA1):c.618C>A (p.Asn206Lys)
NM_002049.4(GATA1):c.61C>T (p.Pro21Ser)
NM_002049.4(GATA1):c.622G>A (p.Gly208Arg) rs587776454
NM_002049.4(GATA1):c.622G>C (p.Gly208Arg) rs587776454
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser) rs137852312
NM_002049.4(GATA1):c.623G>C (p.Gly208Ala)
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr) rs104894808
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002049.4(GATA1):c.658A>C (p.Thr220Pro)
NM_002049.4(GATA1):c.65C>G (p.Ala22Gly)
NM_002049.4(GATA1):c.670C>A (p.Leu224Ile)
NM_002049.4(GATA1):c.679G>A (p.Ala227Thr)
NM_002049.4(GATA1):c.680C>T (p.Ala227Val) rs1602220307
NM_002049.4(GATA1):c.684C>T (p.Cys228=)
NM_002049.4(GATA1):c.68T>G (p.Leu23Arg)
NM_002049.4(GATA1):c.711G>A (p.Gln237=) rs1204529779
NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)
NM_002049.4(GATA1):c.725T>C (p.Ile242Thr)
NM_002049.4(GATA1):c.729G>A (p.Arg243=)
NM_002049.4(GATA1):c.734A>G (p.Lys245Arg)
NM_002049.4(GATA1):c.736A>C (p.Lys246Gln)
NM_002049.4(GATA1):c.737A>G (p.Lys246Arg)
NM_002049.4(GATA1):c.752_754delinsTT (p.Ser251fs) rs1602220695
NM_002049.4(GATA1):c.757C>T (p.Arg253Trp)
NM_002049.4(GATA1):c.766A>G (p.Thr256Ala)
NM_002049.4(GATA1):c.797C>T (p.Thr266Met)
NM_002049.4(GATA1):c.80C>T (p.Thr27Ile)
NM_002049.4(GATA1):c.821G>T (p.Ser274Ile)
NM_002049.4(GATA1):c.831C>T (p.Pro277=)
NM_002049.4(GATA1):c.832G>A (p.Val278Met)
NM_002049.4(GATA1):c.855C>T (p.Tyr285=)
NM_002049.4(GATA1):c.865C>T (p.His289Tyr)
NM_002049.4(GATA1):c.870+5C>T
NM_002049.4(GATA1):c.871-11C>T
NM_002049.4(GATA1):c.871-20C>T
NM_002049.4(GATA1):c.879G>A (p.Arg293=)
NM_002049.4(GATA1):c.882A>G (p.Pro294=)
NM_002049.4(GATA1):c.884T>C (p.Leu295Pro)
NM_002049.4(GATA1):c.886A>C (p.Thr296Pro)
NM_002049.4(GATA1):c.892C>A (p.Arg298=)
NM_002049.4(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.4(GATA1):c.90_91del (p.Val32fs) rs2147305615
NM_002049.4(GATA1):c.911C>T (p.Thr304Ile)
NM_002049.4(GATA1):c.919C>T (p.Arg307Cys) rs1057518396
NM_002049.4(GATA1):c.920G>A (p.Arg307His) rs1557020556
NM_002049.4(GATA1):c.93G>A (p.Gly31=)
NM_002049.4(GATA1):c.93G>T (p.Gly31=) rs368193049
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_002049.4(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002049.4(GATA1):c.962T>C (p.Leu321Pro)
NM_002049.4(GATA1):c.969C>G (p.Gly323=)
NM_002049.4(GATA1):c.971C>T (p.Thr324Ile)
NM_002049.4(GATA1):c.976G>A (p.Ala326Thr)
NM_002049.4(GATA1):c.98dup (p.Phe34fs) rs2062673787
NM_002049.4(GATA1):c.992C>A (p.Ala331Asp)
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met)
NM_002250.3(KCNN4):c.1272G>T (p.Gln424His)
NM_002250.3(KCNN4):c.20T>C (p.Leu7Pro)
NM_002250.3(KCNN4):c.263T>G (p.Met88Arg)
NM_002250.3(KCNN4):c.289C>A (p.Arg97Ser)
NM_002250.3(KCNN4):c.340G>T (p.Val114Leu)
NM_002250.3(KCNN4):c.391T>A (p.Leu131Ile)
NM_002250.3(KCNN4):c.40C>T (p.Arg14Cys)
NM_002250.3(KCNN4):c.43C>G (p.Arg15Gly)
NM_002250.3(KCNN4):c.611C>G (p.Pro204Arg)
NM_002250.3(KCNN4):c.726_729del (p.Leu241_Trp242insTer)
NM_002250.3(KCNN4):c.766G>A (p.Val256Met)
NM_002250.3(KCNN4):c.787G>A (p.Gly263Ser)
NM_002250.3(KCNN4):c.839T>A (p.Leu280Gln)
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) rs1057519077
NM_002250.3(KCNN4):c.8G>A (p.Gly3Glu)
NM_002250.3(KCNN4):c.904A>T (p.Met302Leu)
NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro) rs1969582489
NM_002250.3(KCNN4):c.970A>G (p.Met324Val)
NM_002454.3(MTRR):c.-26+755C>A rs326119
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)
NM_002454.3(MTRR):c.1026T>G (p.Leu342=)
NM_002454.3(MTRR):c.1029G>A (p.Leu343=)
NM_002454.3(MTRR):c.102T>C (p.Asp34=)
NM_002454.3(MTRR):c.1032A>G (p.Lys344=)
NM_002454.3(MTRR):c.1041A>C (p.Ala347=) rs1331838959
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs) rs2126745614
NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs) rs2126745648
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
NM_002454.3(MTRR):c.1057+12G>A
NM_002454.3(MTRR):c.1057+17T>C
NM_002454.3(MTRR):c.1057+8C>G rs1325906968
NM_002454.3(MTRR):c.1057+8C>T
NM_002454.3(MTRR):c.1057+9_1057+16del
NM_002454.3(MTRR):c.1058-5A>C rs2126751043
NM_002454.3(MTRR):c.1058-8del rs1736476987
NM_002454.3(MTRR):c.1058-9C>T rs1736476286
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
NM_002454.3(MTRR):c.1066T>C (p.Leu356=) rs2126751152
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu) rs2126751184
NM_002454.3(MTRR):c.1071C>T (p.Pro357=)
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg) rs776598893
NM_002454.3(MTRR):c.1074G>A (p.Gln358=) rs1561229685
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr) rs1405292334
NM_002454.3(MTRR):c.1077T>C (p.His359=)
NM_002454.3(MTRR):c.1083T>C (p.Pro361=) rs1405600544
NM_002454.3(MTRR):c.1089A>G (p.Gly363=) rs1561230017
NM_002454.3(MTRR):c.108C>T (p.His36=)
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.109dup (p.Cys37fs) rs1747853230
NM_002454.3(MTRR):c.1113C>T (p.Thr371=)
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter) rs772547714
NM_002454.3(MTRR):c.1125A>G (p.Glu375=) rs1425446891
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
NM_002454.3(MTRR):c.1140T>C (p.Pro380=)
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
NM_002454.3(MTRR):c.1146+10del rs750264866
NM_002454.3(MTRR):c.1146+10dup rs750264866
NM_002454.3(MTRR):c.1146+13G>T
NM_002454.3(MTRR):c.1146+19T>G
NM_002454.3(MTRR):c.1146+1G>C rs772608494
NM_002454.3(MTRR):c.1146+3A>G
NM_002454.3(MTRR):c.1147-11C>G rs1015760904
NM_002454.3(MTRR):c.1147-14G>A rs9282791
NM_002454.3(MTRR):c.1147-14G>T
NM_002454.3(MTRR):c.1147-15G>T
NM_002454.3(MTRR):c.1147-17C>T
NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter) rs1737110583
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs) rs1561245416
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
NM_002454.3(MTRR):c.1182C>T (p.Asp394=)
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs) rs1579758005
NM_002454.3(MTRR):c.1203A>G (p.Leu401=) rs200661044
NM_002454.3(MTRR):c.1209G>A (p.Glu403=) rs1324764527
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
NM_002454.3(MTRR):c.1212G>T (p.Leu404=) rs2126771253
NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)
NM_002454.3(MTRR):c.1221A>G (p.Lys407=) rs2126771342
NM_002454.3(MTRR):c.1230A>C (p.Ala410=) rs2126771427
NM_002454.3(MTRR):c.1233C>G (p.Ala411=) rs752174231
NM_002454.3(MTRR):c.1233C>T (p.Ala411=) rs752174231
NM_002454.3(MTRR):c.1248T>C (p.Phe416=) rs886060807
NM_002454.3(MTRR):c.1251A>C (p.Val417=)
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
NM_002454.3(MTRR):c.1260C>G (p.Ala420=) rs774102072
NM_002454.3(MTRR):c.1260C>T (p.Ala420=) rs774102072
NM_002454.3(MTRR):c.1272G>A (p.Leu424=)
NM_002454.3(MTRR):c.129+10G>C rs6413427
NM_002454.3(MTRR):c.129+11T>C
NM_002454.3(MTRR):c.129+12T>C
NM_002454.3(MTRR):c.129+13A>T
NM_002454.3(MTRR):c.129+14C>G
NM_002454.3(MTRR):c.129+15A>G
NM_002454.3(MTRR):c.129+20A>C
NM_002454.3(MTRR):c.129+7G>A
NM_002454.3(MTRR):c.129+9C>T rs527869420
NM_002454.3(MTRR):c.1290T>C (p.Ala430=) rs2126772061
NM_002454.3(MTRR):c.1293C>T (p.Phe431=) rs766885971
NM_002454.3(MTRR):c.130-14T>C
NM_002454.3(MTRR):c.130-17A>T
NM_002454.3(MTRR):c.130-18G>A
NM_002454.3(MTRR):c.130-1G>A
NM_002454.3(MTRR):c.130-20T>G
NM_002454.3(MTRR):c.130-4G>A rs201823283
NM_002454.3(MTRR):c.1314C>T (p.Leu438=)
NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs) rs2126772123
NM_002454.3(MTRR):c.1327+10C>G rs757398819
NM_002454.3(MTRR):c.1327+10C>T rs757398819
NM_002454.3(MTRR):c.1327+11G>A
NM_002454.3(MTRR):c.1327+19A>G
NM_002454.3(MTRR):c.1327+1G>A
NM_002454.3(MTRR):c.1327+20A>G
NM_002454.3(MTRR):c.1327+8G>A
NM_002454.3(MTRR):c.1328-12A>G
NM_002454.3(MTRR):c.1328-13T>A
NM_002454.3(MTRR):c.1328-13T>C
NM_002454.3(MTRR):c.1328-4C>G rs747003266
NM_002454.3(MTRR):c.1328-4C>T rs747003266
NM_002454.3(MTRR):c.1328-6T>G
NM_002454.3(MTRR):c.1328-7_1328-5del rs779772153
NM_002454.3(MTRR):c.1328-8T>C
NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)
NM_002454.3(MTRR):c.132T>C (p.Tyr44=)
NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)
NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter) rs1440404360
NM_002454.3(MTRR):c.1350C>T (p.Pro450=)
NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)
NM_002454.3(MTRR):c.1356A>G (p.Pro452=)
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser) rs764469824
NM_002454.3(MTRR):c.1368A>G (p.Ala456=) rs2126785758
NM_002454.3(MTRR):c.1370+12T>C
NM_002454.3(MTRR):c.1370+12del rs1444115346
NM_002454.3(MTRR):c.1370+20T>A
NM_002454.3(MTRR):c.1370+2TAC[3]
NM_002454.3(MTRR):c.1370+9A>G rs2126785823
NM_002454.3(MTRR):c.1370+9del
NM_002454.3(MTRR):c.1371-11dup
NM_002454.3(MTRR):c.1371-17T>C
NM_002454.3(MTRR):c.1371-18G>A
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_002454.3(MTRR):c.1371-4G>T rs2126793044
NM_002454.3(MTRR):c.1371-8C>G rs2126793017
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_002454.3(MTRR):c.1386C>T (p.His462=)
NM_002454.3(MTRR):c.1394dup (p.Leu466fs)
NM_002454.3(MTRR):c.1395G>A (p.Lys465=) rs2126793201
NM_002454.3(MTRR):c.1401T>G (p.His467Gln) rs1737824362
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
NM_002454.3(MTRR):c.1425T>C (p.Phe475=) rs1737829430
NM_002454.3(MTRR):c.1428G>A (p.Leu476=)
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys) rs1737830740
NM_002454.3(MTRR):c.1431T>G (p.Ser477=) rs896702427
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
NM_002454.3(MTRR):c.1441dup (p.Thr481fs)
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp) rs2126793498
NM_002454.3(MTRR):c.1452G>A (p.Leu484=) rs2126793535
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1473C>T (p.Gly491=)
NM_002454.3(MTRR):c.1474del (p.Trp492fs)
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
NM_002454.3(MTRR):c.1476del (p.Trp492fs) rs2126793645
NM_002454.3(MTRR):c.1479G>A (p.Leu493=)
NM_002454.3(MTRR):c.1482C>T (p.Ala494=) rs1579792709
NM_002454.3(MTRR):c.1488G>A (p.Leu496=) rs1158860588
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala) rs1737849237
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr) rs1737849963
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg) rs2126793764
NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter) rs1737852706
NM_002454.3(MTRR):c.1506G>A (p.Gln502=)
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
NM_002454.3(MTRR):c.1524C>T (p.Ser508=)
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
NM_002454.3(MTRR):c.1545C>T (p.Ala515=)
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
NM_002454.3(MTRR):c.1554T>C (p.Pro518=) rs2126794116
NM_002454.3(MTRR):c.1557+10T>C rs1414777712
NM_002454.3(MTRR):c.1557+16C>T
NM_002454.3(MTRR):c.1558-12G>A
NM_002454.3(MTRR):c.1558-13T>C
NM_002454.3(MTRR):c.1558-14A>G
NM_002454.3(MTRR):c.1558-15del
NM_002454.3(MTRR):c.1558-17T>C
NM_002454.3(MTRR):c.1558-6T>C
NM_002454.3(MTRR):c.1558-8T>C rs2126807577
NM_002454.3(MTRR):c.1560A>C (p.Ile520=)
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
NM_002454.3(MTRR):c.1566C>A (p.Ile522=) rs1579815027
NM_002454.3(MTRR):c.1575A>T (p.Arg525=)
NM_002454.3(MTRR):c.1581A>G (p.Thr527=)
NM_002454.3(MTRR):c.1581A>T (p.Thr527=)
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
NM_002454.3(MTRR):c.1590C>T (p.Phe530=) rs2126807805
NM_002454.3(MTRR):c.1594T>C (p.Leu532=) rs2126807843
NM_002454.3(MTRR):c.1596A>G (p.Leu532=)
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
NM_002454.3(MTRR):c.1599A>G (p.Pro533=) rs2126807880
NM_002454.3(MTRR):c.159T>C (p.Leu53=)
NM_002454.3(MTRR):c.15G>A (p.Leu5=) rs2126643854
NM_002454.3(MTRR):c.1608C>T (p.Pro536=)
NM_002454.3(MTRR):c.1612dup (p.Ile538fs) rs757800887
NM_002454.3(MTRR):c.1614C>T (p.Ile538=) rs2126807956
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
NM_002454.3(MTRR):c.1620C>T (p.Ile540=)
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val) rs752471011
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter) rs2126808021
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
NM_002454.3(MTRR):c.162T>C (p.Val54=) rs2126662749
NM_002454.3(MTRR):c.1631del (p.Gly544fs)
NM_002454.3(MTRR):c.1632T>C (p.Gly544=)
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) rs1738413262
NM_002454.3(MTRR):c.1643del (p.Gly548fs)
NM_002454.3(MTRR):c.1644C>T (p.Gly548=)
NM_002454.3(MTRR):c.1650C>T (p.Ala550=) rs2126808168
NM_002454.3(MTRR):c.1652dup (p.Phe552fs) rs2126808162
NM_002454.3(MTRR):c.165T>C (p.Val55=)
NM_002454.3(MTRR):c.1668A>C (p.Leu556=)
NM_002454.3(MTRR):c.1668A>G (p.Leu556=)
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
NM_002454.3(MTRR):c.1674T>C (p.His558=)
NM_002454.3(MTRR):c.1676+15dup
NM_002454.3(MTRR):c.1676+2T>C
NM_002454.3(MTRR):c.1676+7T>G
NM_002454.3(MTRR):c.1676+8C>T
NM_002454.3(MTRR):c.1677-11T>C
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1677-20C>T
NM_002454.3(MTRR):c.1677-4T>C
NM_002454.3(MTRR):c.1677-7dup
NM_002454.3(MTRR):c.1677-9del rs746262908
NM_002454.3(MTRR):c.1677-9dup rs746262908
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002454.3(MTRR):c.1680G>A (p.Glu560=) rs2126812708
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
NM_002454.3(MTRR):c.1686C>T (p.Leu562=) rs909879819
NM_002454.3(MTRR):c.1698C>T (p.His566=) rs2126812807
NM_002454.3(MTRR):c.16T>C (p.Leu6=) rs2126643873
NM_002454.3(MTRR):c.1704T>C (p.Asp568=) rs2126812841
NM_002454.3(MTRR):c.1716A>C (p.Gly572=) rs755255468
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr) rs1738616151
NM_002454.3(MTRR):c.171T>A (p.Val57=) rs2126662820
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu) rs781416288
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del) rs2126812944
NM_002454.3(MTRR):c.1728G>A (p.Leu576=)
NM_002454.3(MTRR):c.1728del (p.Leu576fs) rs2126812977
NM_002454.3(MTRR):c.1741A>C (p.Arg581=) rs1738621244
NM_002454.3(MTRR):c.1749G>A (p.Lys583=) rs1261248965
NM_002454.3(MTRR):c.1764A>C (p.Leu588=) rs766927577
NM_002454.3(MTRR):c.1764A>T (p.Leu588=) rs766927577
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
NM_002454.3(MTRR):c.1769+10A>T rs1738630744
NM_002454.3(MTRR):c.1769+11A>G
NM_002454.3(MTRR):c.1769+15C>G
NM_002454.3(MTRR):c.1769+6G>A
NM_002454.3(MTRR):c.1769+9C>G
NM_002454.3(MTRR):c.1770-12A>G
NM_002454.3(MTRR):c.1770-14A>G
NM_002454.3(MTRR):c.1770-7A>G rs2126813814
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
NM_002454.3(MTRR):c.1779C>G (p.Leu593=)
NM_002454.3(MTRR):c.177C>T (p.Thr59=)
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
NM_002454.3(MTRR):c.1788C>T (p.Phe596=)
NM_002454.3(MTRR):c.1794G>A (p.Lys598=) rs2126814001
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
NM_002454.3(MTRR):c.1803C>T (p.Ile601=) rs1448214074
NM_002454.3(MTRR):c.1804T>C (p.Leu602=)
NM_002454.3(MTRR):c.1809T>C (p.Thr603=) rs1390898831
NM_002454.3(MTRR):c.1815A>G (p.Leu605=) rs2126814152
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn) rs939239779
NM_002454.3(MTRR):c.1824C>G (p.Ser608=)
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr) rs2126814266
NM_002454.3(MTRR):c.1839T>A (p.Ala613=) rs2126814313
NM_002454.3(MTRR):c.183C>T (p.Gly61=)
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
NM_002454.3(MTRR):c.1854G>A (p.Glu618=) rs955857433
NM_002454.3(MTRR):c.1863A>G (p.Pro621=)
NM_002454.3(MTRR):c.1866A>G (p.Ala622=)
NM_002454.3(MTRR):c.186C>T (p.Thr62=) rs940332374
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.1875G>C (p.Val625=) rs12347
NM_002454.3(MTRR):c.1875G>T (p.Val625=) rs12347
NM_002454.3(MTRR):c.1878A>G (p.Gln626=)
NM_002454.3(MTRR):c.1884C>T (p.Asn628=)
NM_002454.3(MTRR):c.1887C>A (p.Ile629=) rs2126814585
NM_002454.3(MTRR):c.1887C>T (p.Ile629=)
NM_002454.3(MTRR):c.1893T>C (p.Leu631=) rs114274194
NM_002454.3(MTRR):c.1902G>A (p.Gln634=) rs945164864
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
NM_002454.3(MTRR):c.1912A>C (p.Arg638=) rs2126814708
NM_002454.3(MTRR):c.1920C>T (p.Leu640=)
NM_002454.3(MTRR):c.1923C>G (p.Leu641=) rs1738686385
NM_002454.3(MTRR):c.1923C>T (p.Leu641=)
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
NM_002454.3(MTRR):c.1929G>A (p.Glu643=) rs1738688155
NM_002454.3(MTRR):c.1932C>T (p.Asn644=) rs374659219
NM_002454.3(MTRR):c.1938T>C (p.His646=) rs747850307
NM_002454.3(MTRR):c.1952+10T>A
NM_002454.3(MTRR):c.1952+10T>C
NM_002454.3(MTRR):c.1952+10_1952+12del rs2126815094
NM_002454.3(MTRR):c.1952+11A>T
NM_002454.3(MTRR):c.1952+12_1952+16dup
NM_002454.3(MTRR):c.1952+13C>T
NM_002454.3(MTRR):c.1952+17C>A
NM_002454.3(MTRR):c.1952+20A>G
NM_002454.3(MTRR):c.1952+7C>T
NM_002454.3(MTRR):c.1953-14A>G
NM_002454.3(MTRR):c.1953-14_1953-12del
NM_002454.3(MTRR):c.1953-15T>C
NM_002454.3(MTRR):c.1953-16T>C
NM_002454.3(MTRR):c.1953-18T>C
NM_002454.3(MTRR):c.1953-19T>C
NM_002454.3(MTRR):c.1953-20C>T
NM_002454.3(MTRR):c.1953-4C>G
NM_002454.3(MTRR):c.1953-4C>T
NM_002454.3(MTRR):c.1953-9C>A
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
NM_002454.3(MTRR):c.1956T>C (p.Asp652=) rs765283033
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
NM_002454.3(MTRR):c.195A>G (p.Pro65=) rs1166869664
NM_002454.3(MTRR):c.1962G>A (p.Lys654=)
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val) rs1739209079
NM_002454.3(MTRR):c.1971C>T (p.Ala657=)
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_002454.3(MTRR):c.1983T>C (p.His661=)
NM_002454.3(MTRR):c.1986T>C (p.Asp662=) rs2126829225
NM_002454.3(MTRR):c.1989C>T (p.Ala663=) rs2126829261
NM_002454.3(MTRR):c.1998A>G (p.Gln666=) rs767507060
NM_002454.3(MTRR):c.1A>G (p.Met1Val) rs1747827267
NM_002454.3(MTRR):c.2001A>T (p.Ile667=) rs1186554585
NM_002454.3(MTRR):c.2016T>C (p.Val672=) rs1162603124
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala) rs775031794
NM_002454.3(MTRR):c.2029C>T (p.Leu677=)
NM_002454.3(MTRR):c.2031A>C (p.Leu677=)
NM_002454.3(MTRR):c.2037A>C (p.Ala679=)
NM_002454.3(MTRR):c.2037A>G (p.Ala679=)
NM_002454.3(MTRR):c.2047C>T (p.Leu683=)
NM_002454.3(MTRR):c.2049G>C (p.Leu683=)
NM_002454.3(MTRR):c.204A>G (p.Thr68=)
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
NM_002454.3(MTRR):c.2079T>G (p.Leu693=)
NM_002454.3(MTRR):c.2088T>A (p.Ile696=)
NM_002454.3(MTRR):c.2088T>C (p.Ile696=) rs2126829944
NM_002454.3(MTRR):c.2094A>G (p.Ser698=) rs1249803440
NM_002454.3(MTRR):c.216T>C (p.Phe72=)
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu) rs1748351304
NM_002454.3(MTRR):c.227del (p.Ile76fs)
NM_002454.3(MTRR):c.228dup (p.Gln77fs) rs2126663415
NM_002454.3(MTRR):c.234C>T (p.Asn78=) rs757746363
NM_002454.3(MTRR):c.237A>G (p.Gln79=)
NM_002454.3(MTRR):c.240A>C (p.Thr80=)
NM_002454.3(MTRR):c.240A>G (p.Thr80=)
NM_002454.3(MTRR):c.246G>A (p.Pro82=) rs149300444
NM_002454.3(MTRR):c.24T>C (p.Tyr8=) rs1747831647
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
NM_002454.3(MTRR):c.261T>C (p.Ala87=) rs138167806
NM_002454.3(MTRR):c.263del (p.His88fs)
NM_002454.3(MTRR):c.264C>T (p.His88=) rs770540418
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
NM_002454.3(MTRR):c.270del (p.Tyr91fs) rs1579619636
NM_002454.3(MTRR):c.277T>C (p.Leu93=) rs1318273666
NM_002454.3(MTRR):c.279A>G (p.Leu93=)
NM_002454.3(MTRR):c.283+13C>T
NM_002454.3(MTRR):c.283+15C>G
NM_002454.3(MTRR):c.283+1G>A
NM_002454.3(MTRR):c.283+1_283+20del rs1748371268
NM_002454.3(MTRR):c.283+9C>T rs2126663981
NM_002454.3(MTRR):c.283+9CT[3] rs1341998318
NM_002454.3(MTRR):c.284-17G>A
NM_002454.3(MTRR):c.284-17del
NM_002454.3(MTRR):c.284-18T>C
NM_002454.3(MTRR):c.284-5T>G
NM_002454.3(MTRR):c.284-6C>T
NM_002454.3(MTRR):c.288C>G (p.Leu96=) rs35587995
NM_002454.3(MTRR):c.290del (p.Gly97fs)
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
NM_002454.3(MTRR):c.309C>T (p.Tyr103=)
NM_002454.3(MTRR):c.312T>C (p.Phe104=) rs1044244393
NM_002454.3(MTRR):c.318T>C (p.Asn106=)
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
NM_002454.3(MTRR):c.324G>A (p.Gly108=)
NM_002454.3(MTRR):c.324del (p.Lys109fs) rs1189298981
NM_002454.3(MTRR):c.333T>C (p.Ile111=) rs2126675587
NM_002454.3(MTRR):c.340del (p.Arg114fs) rs2126675629
NM_002454.3(MTRR):c.342A>G (p.Arg114=)
NM_002454.3(MTRR):c.345T>G (p.Leu115=)
NM_002454.3(MTRR):c.348A>G (p.Gln116=)
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly) rs2126675683
NM_002454.3(MTRR):c.354T>G (p.Leu118=) rs1465852233
NM_002454.3(MTRR):c.354_358del (p.Gly119fs) rs2126675707
NM_002454.3(MTRR):c.360C>T (p.Ala120=)
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
NM_002454.3(MTRR):c.369C>T (p.Phe123=)
NM_002454.3(MTRR):c.375C>T (p.Asp125=) rs757292247
NM_002454.3(MTRR):c.381A>G (p.Gly127=) rs771642983
NM_002454.3(MTRR):c.393C>T (p.Asp131=)
NM_002454.3(MTRR):c.396T>C (p.Cys132=)
NM_002454.3(MTRR):c.397G>C (p.Val133Leu) rs770923981
NM_002454.3(MTRR):c.397_398del (p.Val133fs)
NM_002454.3(MTRR):c.401+12_401+13del
NM_002454.3(MTRR):c.401+14T>A
NM_002454.3(MTRR):c.401+17C>G
NM_002454.3(MTRR):c.401+17C>T
NM_002454.3(MTRR):c.401+2_401+7del rs2126676051
NM_002454.3(MTRR):c.402-18T>C
NM_002454.3(MTRR):c.402-1G>C
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.402-2A>G rs2126692827
NM_002454.3(MTRR):c.402-6G>T rs2126692815
NM_002454.3(MTRR):c.402-6del
NM_002454.3(MTRR):c.414G>A (p.Val138=)
NM_002454.3(MTRR):c.420G>A (p.Glu140=)
NM_002454.3(MTRR):c.423G>C (p.Pro141=) rs753947379
NM_002454.3(MTRR):c.438C>A (p.Leu146=)
NM_002454.3(MTRR):c.438C>G (p.Leu146=)
NM_002454.3(MTRR):c.438C>T (p.Leu146=)
NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg) rs2126693065
NM_002454.3(MTRR):c.456G>A (p.Lys152=) rs1734864252
NM_002454.3(MTRR):c.462T>C (p.Phe154=) rs2126693127
NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)
NM_002454.3(MTRR):c.468A>G (p.Ser156=)
NM_002454.3(MTRR):c.472A>C (p.Arg158=)
NM_002454.3(MTRR):c.477A>C (p.Gly159=) rs1270504511
NM_002454.3(MTRR):c.483G>A (p.Glu161=)
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly) rs1734869328
NM_002454.3(MTRR):c.495dup (p.Ala166fs)
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
NM_002454.3(MTRR):c.507G>T (p.Val169=) rs367609729
NM_002454.3(MTRR):c.516T>C (p.Pro172=) rs1579656831
NM_002454.3(MTRR):c.516T>G (p.Pro172=)
NM_002454.3(MTRR):c.51C>G (p.Ala17=)
NM_002454.3(MTRR):c.51C>T (p.Ala17=)
NM_002454.3(MTRR):c.525G>A (p.Ser175=)
NM_002454.3(MTRR):c.525G>C (p.Ser175=)
NM_002454.3(MTRR):c.534C>T (p.Asp178=) rs1417585228
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
NM_002454.3(MTRR):c.558C>T (p.His186=)
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
NM_002454.3(MTRR):c.573C>G (p.Val191=) rs777364593
NM_002454.3(MTRR):c.573C>T (p.Val191=) rs777364593
NM_002454.3(MTRR):c.579T>C (p.Leu193=) rs2126694174
NM_002454.3(MTRR):c.57A>C (p.Ala19=)
NM_002454.3(MTRR):c.582G>A (p.Leu194=)
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn) rs748186027
NM_002454.3(MTRR):c.591T>C (p.Asp197=)
NM_002454.3(MTRR):c.606G>A (p.Lys202=) rs368030155
NM_002454.3(MTRR):c.612T>G (p.Ser204=) rs374670570
NM_002454.3(MTRR):c.624G>A (p.Lys208=)
NM_002454.3(MTRR):c.630T>C (p.Asn210=) rs2126694596
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
NM_002454.3(MTRR):c.636G>A (p.Val212=) rs368140804
NM_002454.3(MTRR):c.636G>C (p.Val212=)
NM_002454.3(MTRR):c.645C>T (p.Asn215=) rs1734907656
NM_002454.3(MTRR):c.645_648del (p.Gln216fs)
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
NM_002454.3(MTRR):c.654T>C (p.Asn218=) rs770060665
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
NM_002454.3(MTRR):c.678C>G (p.Ser226=)
NM_002454.3(MTRR):c.678C>T (p.Ser226=)
NM_002454.3(MTRR):c.681A>G (p.Ser227=) rs749515067
NM_002454.3(MTRR):c.693G>A (p.Ser231=)
NM_002454.3(MTRR):c.693G>C (p.Ser231=) rs775348918
NM_002454.3(MTRR):c.6G>A (p.Arg2=) rs560321328
NM_002454.3(MTRR):c.702A>C (p.Pro234=) rs961373750
NM_002454.3(MTRR):c.702A>G (p.Pro234=) rs961373750
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe) rs371860776
NM_002454.3(MTRR):c.718_719del (p.Leu240fs) rs1207820860
NM_002454.3(MTRR):c.734del (p.Leu245fs) rs1734927527
NM_002454.3(MTRR):c.735A>G (p.Leu245=) rs1343821146
NM_002454.3(MTRR):c.738C>T (p.Pro246=)
NM_002454.3(MTRR):c.740del (p.Pro247fs) rs752858024
NM_002454.3(MTRR):c.741del (p.Glu248fs) rs1734931275
NM_002454.3(MTRR):c.753G>A (p.Gln251=)
NM_002454.3(MTRR):c.754del (p.Val252fs)
NM_002454.3(MTRR):c.75A>G (p.Gln25=) rs1553999358
NM_002454.3(MTRR):c.762G>A (p.Leu254=)
NM_002454.3(MTRR):c.780+17T>C
NM_002454.3(MTRR):c.780+17T>G
NM_002454.3(MTRR):c.780+19A>G
NM_002454.3(MTRR):c.780+19del
NM_002454.3(MTRR):c.780+8A>G rs1283751633
NM_002454.3(MTRR):c.781-2A>C
NM_002454.3(MTRR):c.781-2A>T
NM_002454.3(MTRR):c.781-4C>T rs1057521905
NM_002454.3(MTRR):c.781-5T>G rs2126727387
NM_002454.3(MTRR):c.781-6T>C
NM_002454.3(MTRR):c.781-8T>C
NM_002454.3(MTRR):c.789C>T (p.Ser263=) rs577950573
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
NM_002454.3(MTRR):c.815del (p.Pro272fs) rs2126727585
NM_002454.3(MTRR):c.816A>G (p.Pro272=)
NM_002454.3(MTRR):c.81G>A (p.Val27=) rs1361273528
NM_002454.3(MTRR):c.825A>G (p.Gln275=)
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
NM_002454.3(MTRR):c.849A>G (p.Gln283=) rs1464577162
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
NM_002454.3(MTRR):c.858G>A (p.Thr286=) rs762745815
NM_002454.3(MTRR):c.858G>C (p.Thr286=) rs762745815
NM_002454.3(MTRR):c.858G>T (p.Thr286=)
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser) rs750009895
NM_002454.3(MTRR):c.861dup (p.Asp288Ter)
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr) rs776031136
NM_002454.3(MTRR):c.867C>G (p.Ala289=) rs1579702611
NM_002454.3(MTRR):c.867C>T (p.Ala289=) rs1579702611
NM_002454.3(MTRR):c.873A>G (p.Lys291=) rs2126727889
NM_002454.3(MTRR):c.87T>C (p.His29=) rs1212726848
NM_002454.3(MTRR):c.882G>A (p.Leu294=)
NM_002454.3(MTRR):c.892T>C (p.Leu298=) rs758638445
NM_002454.3(MTRR):c.901del (p.Ser301fs)
NM_002454.3(MTRR):c.903+11A>G
NM_002454.3(MTRR):c.903+15T>G
NM_002454.3(MTRR):c.903+17_903+20del
NM_002454.3(MTRR):c.903+1G>A
NM_002454.3(MTRR):c.903+7T>C
NM_002454.3(MTRR):c.903+9C>T
NM_002454.3(MTRR):c.904-10T>C
NM_002454.3(MTRR):c.904-12G>T
NM_002454.3(MTRR):c.904-16T>C
NM_002454.3(MTRR):c.904-18A>G
NM_002454.3(MTRR):c.904-19C>T
NM_002454.3(MTRR):c.904-1G>T
NM_002454.3(MTRR):c.904-20T>C
NM_002454.3(MTRR):c.904-20_904-19insTC rs1554003809
NM_002454.3(MTRR):c.904-20_904-19insTTC rs1554003809
NM_002454.3(MTRR):c.904-20dup rs11398509
NM_002454.3(MTRR):c.904-2A>G
NM_002454.3(MTRR):c.904-3dup rs764339809
NM_002454.3(MTRR):c.904-4C>A
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
NM_002454.3(MTRR):c.908_909del (p.Thr303fs)
NM_002454.3(MTRR):c.909A>G (p.Thr303=) rs747851597
NM_002454.3(MTRR):c.915T>C (p.Phe305=)
NM_002454.3(MTRR):c.916del (p.Ser306fs) rs1212701617
NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)
NM_002454.3(MTRR):c.924G>A (p.Gln308=)
NM_002454.3(MTRR):c.930A>C (p.Gly310=) rs2126744786
NM_002454.3(MTRR):c.930_934del (p.Asp311fs)
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
NM_002454.3(MTRR):c.936C>A (p.Ala312=)
NM_002454.3(MTRR):c.936C>G (p.Ala312=) rs777075473
NM_002454.3(MTRR):c.939C>T (p.Phe313=) rs1475861942
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu) rs2126745024
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
NM_002454.3(MTRR):c.957C>T (p.Asn319=) rs2126745060
NM_002454.3(MTRR):c.966T>C (p.Ser322=)
NM_002454.3(MTRR):c.972A>C (p.Val324=)
NM_002454.3(MTRR):c.973_1146+462del
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly) rs2126745139
NM_002454.3(MTRR):c.979C>T (p.Leu327=) rs2126745164
NM_002454.3(MTRR):c.981A>G (p.Leu327=)
NM_002454.3(MTRR):c.984C>G (p.Leu328=) rs752543039
NM_002454.3(MTRR):c.984C>T (p.Leu328=)
NM_002454.3(MTRR):c.993G>C (p.Leu331=) rs777698463
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
NM_002454.3(MTRR):c.99A>C (p.Ala33=) rs1747850617
NM_002485.5(NBN):c.1000A>T (p.Lys334Ter)
NM_002485.5(NBN):c.1029del (p.Gln344fs)
NM_002485.5(NBN):c.1029dup (p.Gln344fs) rs1563539146
NM_002485.5(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu) rs1354459986
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1104dup (p.Ser369fs)
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter) rs772909239
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_002485.5(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.5(NBN):c.115del (p.Gln39fs) rs864622511
NM_002485.5(NBN):c.1194A>C (p.Gln398His) rs200046373
NM_002485.5(NBN):c.11T>C (p.Leu4Pro) rs748090667
NM_002485.5(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.5(NBN):c.11_12del (p.Leu4fs)
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
NM_002485.5(NBN):c.1225del (p.Thr409fs) rs2129720423
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer) rs2129720196
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr) rs1554559171
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.5(NBN):c.1298del (p.Pro433fs)
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter) rs1554559094
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1357_1360dup (p.Ser454Ter)
NM_002485.5(NBN):c.1373A>T (p.Tyr458Phe)
NM_002485.5(NBN):c.1388_1389del (p.Thr463fs)
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1G>A
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1397+1dup
NM_002485.5(NBN):c.1397+2T>A rs730881850
NM_002485.5(NBN):c.1398-1G>A
NM_002485.5(NBN):c.1402dup (p.Arg468fs)
NM_002485.5(NBN):c.1408G>A (p.Glu470Lys)
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1442C>T (p.Ala481Val)
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.5(NBN):c.1481A>T (p.Gln494Leu)
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1490_1514del (p.Thr497fs)
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter) rs772411713
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser) rs1563526901
NM_002485.5(NBN):c.14_23del (p.Leu5fs) rs2129938178
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1523dup (p.Ser509fs) rs1586054199
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs) rs1554558449
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys) rs1554558445
NM_002485.5(NBN):c.1565T>A (p.Leu522Ter)
NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1594G>T (p.Val532Leu) rs545435120
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly) rs876658501
NM_002485.5(NBN):c.1622C>T (p.Ala541Val) rs876658501
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter) rs1810540992
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.5(NBN):c.1651del (p.Arg551fs)
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln) rs1064793213
NM_002485.5(NBN):c.1654dup (p.Glu552fs) rs760237820
NM_002485.5(NBN):c.1666G>A (p.Val556Met) rs771567358
NM_002485.5(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.172-1del
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1783A>G (p.Met595Val) rs2129696684
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1826del (p.Pro609fs)
NM_002485.5(NBN):c.1845+5_1845+8del rs1563524615
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.5(NBN):c.1872_1873dup (p.Glu625fs)
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.1889C>G (p.Ser630Ter)
NM_002485.5(NBN):c.188T>A (p.Ile63Asn) rs961554359
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg) rs1586043635
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.5(NBN):c.1915-5T>G rs1554556608
NM_002485.5(NBN):c.1940G>A (p.Ser647Asn)
NM_002485.5(NBN):c.194T>A (p.Val65Glu) rs1563581457
NM_002485.5(NBN):c.1958dup (p.Leu654fs) rs780235686
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.1984C>A (p.Leu662Met)
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys) rs1554556522
NM_002485.5(NBN):c.202T>G (p.Leu68Val) rs1200599843
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs) rs1036111786
NM_002485.5(NBN):c.2039G>A (p.Gly680Asp)
NM_002485.5(NBN):c.2051del (p.Asn684fs) rs1586040200
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser) rs1181142133
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.5(NBN):c.2070+5G>A rs1323512485
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2071del rs2130756322
NM_002485.5(NBN):c.2101C>T (p.His701Tyr) rs587781567
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.2166G>A (p.Trp722Ter)
NM_002485.5(NBN):c.217A>T (p.Lys73Ter) rs2129915767
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2185-3C>T rs1809726732
NM_002485.5(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2210A>T (p.Glu737Val) rs1554554247
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu) rs767523514
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
NM_002485.5(NBN):c.241del (p.Glu81fs)
NM_002485.5(NBN):c.247A>G (p.Met83Val) rs955258267
NM_002485.5(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.5(NBN):c.278C>A (p.Ser93Ter) rs12721593
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.359T>G (p.Leu120Ter) rs1563579387
NM_002485.5(NBN):c.360_363dup (p.Val122fs)
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002485.5(NBN):c.38-3C>G rs876661099
NM_002485.5(NBN):c.388C>G (p.Gln130Glu) rs1586107038
NM_002485.5(NBN):c.392C>G (p.Ala131Gly) rs1469136096
NM_002485.5(NBN):c.40G>T (p.Glu14Ter)
NM_002485.5(NBN):c.429G>A (p.Trp143Ter) rs1812023981
NM_002485.5(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.474del (p.Ile159fs) rs1563578540
NM_002485.5(NBN):c.480+1G>A
NM_002485.5(NBN):c.480+3A>G rs756817252
NM_002485.5(NBN):c.4del (p.Trp2fs) rs1275657359
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.515T>C (p.Val172Ala) rs1554566701
NM_002485.5(NBN):c.523G>C (p.Glu175Gln) rs730881861
NM_002485.5(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002485.5(NBN):c.565C>T (p.Gln189Ter) rs1198614767
NM_002485.5(NBN):c.572C>T (p.Pro191Leu) rs876661071
NM_002485.5(NBN):c.580G>T (p.Glu194Ter) rs1554566610
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.585-1_585delinsC rs786203662
NM_002485.5(NBN):c.585-2A>G rs772005832
NM_002485.5(NBN):c.589dup (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.5(NBN):c.602A>G (p.Asp201Gly) rs587780098
NM_002485.5(NBN):c.655A>C (p.Lys219Gln) rs730881846
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.697A>C (p.Lys233Gln) rs1554564205
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.702+2T>C rs1811497703
NM_002485.5(NBN):c.704A>C (p.His235Pro)
NM_002485.5(NBN):c.727G>C (p.Val243Leu) rs786203253
NM_002485.5(NBN):c.742dup (p.Glu248fs)
NM_002485.5(NBN):c.76G>T (p.Val26Phe) rs752964949
NM_002485.5(NBN):c.782del (p.Asn261fs)
NM_002485.5(NBN):c.794dup (p.Pro266fs)
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.5(NBN):c.857A>G (p.Gln286Arg) rs1586086458
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.882G>C (p.Met294Ile) rs1811450172
NM_002485.5(NBN):c.896+1G>A rs778306619
NM_002485.5(NBN):c.896+2T>C rs754659423
NM_002485.5(NBN):c.896G>A (p.Arg299Lys)
NM_002485.5(NBN):c.897G>T (p.Arg299Ser) rs779798363
NM_002485.5(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.5(NBN):c.913A>G (p.Ile305Val)
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.962del (p.Asn321fs) rs1586075907
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter) rs748453607
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer) rs1811144443
NM_002485.5(NBN):c.974del (p.Pro325fs) rs1554562110
NM_002485.5(NBN):c.976C>G (p.Gln326Glu) rs121908973
NM_002485.5(NBN):c.994+1G>A rs1554562083
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.995-23_998inv
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.99T>G (p.Ile33Met) rs1172365532
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.4(PIGA):c.109A>G (p.Met37Val) rs2147724073
NM_002641.4(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.4(PIGA):c.1139del (p.Ile380fs)
NM_002641.4(PIGA):c.1188+1G>A rs2147717286
NM_002641.4(PIGA):c.1188+1G>C
NM_002641.4(PIGA):c.1188+2del rs587776723
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.4(PIGA):c.142G>A (p.Gly48Ser)
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.151_187del (p.Ser51fs)
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.4(PIGA):c.167T>C (p.Leu56Pro)
NM_002641.4(PIGA):c.196_206del (p.Lys66fs)
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro) rs1569180063
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.4(PIGA):c.329dup (p.Pro111fs)
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser) rs2147723760
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.*49dup rs3087377
NM_002693.3(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)
NM_002875.5(RAD51):c.391A>C (p.Thr131Pro) rs1895530875
NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys) rs1555429629
NM_002875.5(RAD51):c.871ATC[1] (p.Ile292del)
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002948.5(RPL15):c.130del (p.Arg44fs)
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)
NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu) rs1704930969
NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)
NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)
NM_003126.2(SPTA1):c.5190_5310del rs754614154
NM_003126.4(SPTA1):c.*133C>T rs868674912
NM_003126.4(SPTA1):c.*134T>G rs866529035
NM_003126.4(SPTA1):c.*296G>T rs886045377
NM_003126.4(SPTA1):c.*323T>C rs867404163
NM_003126.4(SPTA1):c.*420T>A rs1197068796
NM_003126.4(SPTA1):c.*509G>T rs1649201828
NM_003126.4(SPTA1):c.1007C>T (p.Ser336Leu) rs2101929378
NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp) rs121918640
NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) rs121918637
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003126.4(SPTA1):c.1554T>C (p.His518=) rs886045392
NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn) rs755070607
NM_003126.4(SPTA1):c.1698C>T (p.Ala566=) rs561401543
NM_003126.4(SPTA1):c.1700T>C (p.Leu567Pro)
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.1850dup (p.Ser618fs) rs1553234309
NM_003126.4(SPTA1):c.2015T>C (p.Leu672Ser) rs886045389
NM_003126.4(SPTA1):c.2039-15T>C rs886045388
NM_003126.4(SPTA1):c.204G>C (p.Trp68Cys) rs1655076780
NM_003126.4(SPTA1):c.2101C>A (p.Arg701Ser) rs201048261
NM_003126.4(SPTA1):c.2160C>T (p.Ala720=) rs199815523
NM_003126.4(SPTA1):c.2187C>G (p.His729Gln) rs780083079
NM_003126.4(SPTA1):c.2244C>T (p.Asp748=) rs886045387
NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs)
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter) rs2022057
NM_003126.4(SPTA1):c.2365C>G (p.Leu789Val) rs779283627
NM_003126.4(SPTA1):c.2461C>A (p.Leu821Ile) rs886045386
NM_003126.4(SPTA1):c.2464+13T>G rs1653313076
NM_003126.4(SPTA1):c.2464+1G>A rs774632615
NM_003126.4(SPTA1):c.2465-1G>A rs863223305
NM_003126.4(SPTA1):c.2479G>C (p.Ala827Pro) rs755782111
NM_003126.4(SPTA1):c.25-25G>T rs2564859
NM_003126.4(SPTA1):c.25G>T (p.Val9Phe) rs111321033
NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)
NM_003126.4(SPTA1):c.27del (p.Val10fs)
NM_003126.4(SPTA1):c.2805+7T>G rs1652909073
NM_003126.4(SPTA1):c.2846A>G (p.Asn949Ser) rs576741169
NM_003126.4(SPTA1):c.2898G>A (p.Gln966=) rs1553232007
NM_003126.4(SPTA1):c.2899-10T>A rs1652706512
NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter) rs762088983
NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter) rs1652590413
NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter) rs1553231217
NM_003126.4(SPTA1):c.3292A>C (p.Ile1098Leu) rs748421324
NM_003126.4(SPTA1):c.3331G>A (p.Asp1111Asn) rs760205675
NM_003126.4(SPTA1):c.3477+1G>C rs2101857591
NM_003126.4(SPTA1):c.3660T>C (p.Ala1220=) rs886045385
NM_003126.4(SPTA1):c.410G>A (p.Arg137His) rs200716254
NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter) rs1571436535
NM_003126.4(SPTA1):c.4224G>C (p.Glu1408Asp) rs773758018
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.4443-1G>A
NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter) rs1651716612
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.4823G>A (p.Arg1608His)
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4849C>A (p.Arg1617=) rs745646823
NM_003126.4(SPTA1):c.4857T>C (p.Phe1619=) rs764566377
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.4969T>C (p.Leu1657=) rs772817383
NM_003126.4(SPTA1):c.5019G>C (p.Leu1673Phe)
NM_003126.4(SPTA1):c.5219A>G (p.Asp1740Gly) rs1651109720
NM_003126.4(SPTA1):c.5261A>G (p.Lys1754Arg)
NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp) rs377659326
NM_003126.4(SPTA1):c.5269C>T (p.Arg1757Cys)
NM_003126.4(SPTA1):c.5304C>T (p.Ala1768=) rs886045383
NM_003126.4(SPTA1):c.5433-132G>A rs1650943500
NM_003126.4(SPTA1):c.5581C>A (p.His1861Asn) rs886045381
NM_003126.4(SPTA1):c.5581del (p.His1861fs)
NM_003126.4(SPTA1):c.5911-3C>T rs886045380
NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His) rs199993378
NM_003126.4(SPTA1):c.6172T>G (p.Trp2058Gly) rs2101760861
NM_003126.4(SPTA1):c.6221C>T (p.Ser2074Phe)
NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu) rs754206036
NM_003126.4(SPTA1):c.6331del (p.Ala2111fs)
NM_003126.4(SPTA1):c.6376G>T (p.Val2126Leu) rs1210432921
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6592G>A (p.Ala2198Thr)
NM_003126.4(SPTA1):c.6600+5G>T rs1462060431
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter) rs2101942740
NM_003126.4(SPTA1):c.6697T>C (p.Tyr2233His) rs1649487063
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs) rs1649424538
NM_003126.4(SPTA1):c.6989+8C>A rs1185409461
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) rs121918642
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003126.4(SPTA1):c.958-12T>C rs1654391231
NM_003126.4:c.2899-50_4338+50del
NM_003647.3(DGKE):c.447del (p.Lys150fs) rs1906529223
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys) rs749415630
NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser) rs1217293329
NM_003745.2(SOCS1):c.24del (p.Ala9fs) rs2069587477
NM_003745.2(SOCS1):c.476_480dup (p.Met161fs) rs1470306246
NM_004006.2:g.(?_89845141)_(89858973_?)del
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs) rs869312973
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del) rs869312659
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004437.3(EPB41):c.1219_1458del
NM_004437.3(EPB41):c.1219_1587del
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln) rs1554670417
NM_004629.2(FANCG):c.*77C>T rs1829028329
NM_004629.2(FANCG):c.-182del rs886063899
NM_004629.2(FANCG):c.-342G>T rs556082635
NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)
NM_004629.2(FANCG):c.1002A>G (p.Leu334=) rs984958735
NM_004629.2(FANCG):c.1002A>T (p.Leu334=) rs984958735
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter) rs2131055405
NM_004629.2(FANCG):c.1008dup (p.Pro337fs) rs1829086026
NM_004629.2(FANCG):c.1011C>T (p.Pro337=) rs1488514693
NM_004629.2(FANCG):c.1017T>A (p.His339Gln) rs764465471
NM_004629.2(FANCG):c.1017T>C (p.His339=) rs764465471
NM_004629.2(FANCG):c.1019G>A (p.Cys340Tyr) rs2131055383
NM_004629.2(FANCG):c.1023C>T (p.Gly341=)
NM_004629.2(FANCG):c.1027C>G (p.Gln343Glu) rs1829085768
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter) rs1829085768
NM_004629.2(FANCG):c.1032C>A (p.Ser344Arg)
NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter) rs2131055360
NM_004629.2(FANCG):c.1045A>T (p.Ile349Leu)
NM_004629.2(FANCG):c.105G>C (p.Leu35=)
NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter) rs745928033
NM_004629.2(FANCG):c.1063C>T (p.Leu355=) rs1829085262
NM_004629.2(FANCG):c.1065A>G (p.Leu355=)
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
NM_004629.2(FANCG):c.1071G>A (p.Thr357=) rs1829085044
NM_004629.2(FANCG):c.1074G>A (p.Gly358=) rs749198217
NM_004629.2(FANCG):c.1076+15del
NM_004629.2(FANCG):c.1076+16C>T
NM_004629.2(FANCG):c.1076+3_1076+7del rs780410457
NM_004629.2(FANCG):c.1076+4A>G rs1829084813
NM_004629.2(FANCG):c.1076+9C>T rs1245972880
NM_004629.2(FANCG):c.1077-13T>G
NM_004629.2(FANCG):c.1077-18T>C
NM_004629.2(FANCG):c.1077-7T>C rs2131054765
NM_004629.2(FANCG):c.1077-8C>T rs1563986100
NM_004629.2(FANCG):c.1077-9A>C
NM_004629.2(FANCG):c.107C>T (p.Thr36Ile) rs1587144550
NM_004629.2(FANCG):c.1082G>A (p.Gly361Glu) rs1276088946
NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly) rs1829076408
NM_004629.2(FANCG):c.1087G>A (p.Ala363Thr)
NM_004629.2(FANCG):c.1091del (p.Ala364fs)
NM_004629.2(FANCG):c.10C>G (p.Gln4Glu) rs1326382443
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter) rs1326382443
NM_004629.2(FANCG):c.1100A>C (p.Tyr367Ser)
NM_004629.2(FANCG):c.1113G>A (p.Leu371=) rs1829075976
NM_004629.2(FANCG):c.1116C>G (p.Ala372=) rs2131054695
NM_004629.2(FANCG):c.1116C>T (p.Ala372=)
NM_004629.2(FANCG):c.1122_1123delinsAT (p.Leu374_Leu375=)
NM_004629.2(FANCG):c.1123C>T (p.Leu375=) rs1447583193
NM_004629.2(FANCG):c.1125G>A (p.Leu375=)
NM_004629.2(FANCG):c.1126G>T (p.Asp376Tyr) rs1587140699
NM_004629.2(FANCG):c.1129A>G (p.Ser377Gly)
NM_004629.2(FANCG):c.1143+11C>G
NM_004629.2(FANCG):c.1143+15A>C
NM_004629.2(FANCG):c.1143+17G>A
NM_004629.2(FANCG):c.1143+17G>C
NM_004629.2(FANCG):c.1143+18C>T
NM_004629.2(FANCG):c.1143+4G>A rs2131054635
NM_004629.2(FANCG):c.1143+5G>A rs778328620
NM_004629.2(FANCG):c.1143+5G>C rs778328620
NM_004629.2(FANCG):c.1143+8T>C rs2131054621
NM_004629.2(FANCG):c.1144-10C>T rs1159181079
NM_004629.2(FANCG):c.1144-16C>G
NM_004629.2(FANCG):c.1144-18TTC[2]
NM_004629.2(FANCG):c.1144-19C>T
NM_004629.2(FANCG):c.1144-1G>A
NM_004629.2(FANCG):c.1144-1G>C rs755363896
NM_004629.2(FANCG):c.1144-2A>G
NM_004629.2(FANCG):c.1144-3C>T
NM_004629.2(FANCG):c.1144-5T>C
NM_004629.2(FANCG):c.1144-6C>T
NM_004629.2(FANCG):c.1144-7_1144-6delinsTT rs2131054350
NM_004629.2(FANCG):c.1144-8C>T
NM_004629.2(FANCG):c.1144-9C>A rs778217810
NM_004629.2(FANCG):c.1152A>C (p.Pro384=) rs1487531031
NM_004629.2(FANCG):c.1153C>A (p.Pro385Thr) rs1288516919
NM_004629.2(FANCG):c.1153C>G (p.Pro385Ala) rs1288516919
NM_004629.2(FANCG):c.1155_1163del (p.Ser387_Pro389del) rs1554670228
NM_004629.2(FANCG):c.1156C>A (p.Pro386Thr)
NM_004629.2(FANCG):c.1157C>A (p.Pro386His) rs141147618
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.2(FANCG):c.1158C>T (p.Pro386=) rs201041980
NM_004629.2(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.115C>A (p.Arg39=)
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.1161_1163dup (p.Pro389_Gly390insPro)
NM_004629.2(FANCG):c.1167_1168del (p.Gly390fs)
NM_004629.2(FANCG):c.1173C>G (p.Pro391=)
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.1192T>C (p.Leu398=)
NM_004629.2(FANCG):c.1197G>A (p.Glu399=) rs745472311
NM_004629.2(FANCG):c.1199C>T (p.Ala400Val)
NM_004629.2(FANCG):c.119A>C (p.Gln40Pro)
NM_004629.2(FANCG):c.1209A>G (p.Ala403=)
NM_004629.2(FANCG):c.1209A>T (p.Ala403=)
NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter) rs748730134
NM_004629.2(FANCG):c.1216del (p.Gln406fs) rs758423821
NM_004629.2(FANCG):c.1216dup (p.Gln406fs) rs758423821
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
NM_004629.2(FANCG):c.1228G>A (p.Ala410Thr) rs1829068737
NM_004629.2(FANCG):c.1236T>C (p.Asp412=)
NM_004629.2(FANCG):c.1239C>T (p.Ala413=) rs2131054090
NM_004629.2(FANCG):c.123G>A (p.Gln41=) rs1319799772
NM_004629.2(FANCG):c.123G>C (p.Gln41His)
NM_004629.2(FANCG):c.1240T>C (p.Leu414=)
NM_004629.2(FANCG):c.1246C>T (p.Leu416=)
NM_004629.2(FANCG):c.1246_1247del (p.Leu416fs) rs2131054083
NM_004629.2(FANCG):c.1248_1249del (p.Leu416_Cys417insTer)
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter) rs886063896
NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)
NM_004629.2(FANCG):c.1266C>T (p.Ser422=)
NM_004629.2(FANCG):c.1269C>T (p.Arg423=) rs753829462
NM_004629.2(FANCG):c.1272A>G (p.Thr424=) rs2131054017
NM_004629.2(FANCG):c.1277C>G (p.Ser426Cys)
NM_004629.2(FANCG):c.1279C>T (p.Leu427=) rs760537318
NM_004629.2(FANCG):c.1282C>T (p.Leu428=) rs2131053992
NM_004629.2(FANCG):c.1292T>C (p.Met431Thr)
NM_004629.2(FANCG):c.129T>A (p.Ala43=)
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) rs2131053943
NM_004629.2(FANCG):c.1326C>T (p.Thr442=) rs2131053924
NM_004629.2(FANCG):c.132G>A (p.Gln44=) rs771581491
NM_004629.2(FANCG):c.1333C>T (p.Leu445=)
NM_004629.2(FANCG):c.1338A>T (p.Pro446=) rs758656355
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
NM_004629.2(FANCG):c.1345C>T (p.Pro449Ser) rs1829066600
NM_004629.2(FANCG):c.1350C>G (p.Leu450=)
NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)
NM_004629.2(FANCG):c.1356C>T (p.Val452=) rs2131053861
NM_004629.2(FANCG):c.1359del (p.Ala454fs) rs1829066243
NM_004629.2(FANCG):c.1365C>A (p.Thr455=) rs767385265
NM_004629.2(FANCG):c.1365C>T (p.Thr455=) rs767385265
NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter) rs2131053817
NM_004629.2(FANCG):c.1377G>A (p.Gln459=) rs1587140019
NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)
NM_004629.2(FANCG):c.1385C>A (p.Ala462Asp) rs2131053797
NM_004629.2(FANCG):c.1386C>G (p.Ala462=)
NM_004629.2(FANCG):c.138A>C (p.Ala46=) rs1829139114
NM_004629.2(FANCG):c.1392T>C (p.Val464=)
NM_004629.2(FANCG):c.1395A>G (p.Gln465=)
NM_004629.2(FANCG):c.139C>T (p.Leu47=)
NM_004629.2(FANCG):c.1400G>A (p.Gly467Asp)
NM_004629.2(FANCG):c.1403C>T (p.Ala468Val) rs1829065605
NM_004629.2(FANCG):c.1408A>G (p.Lys470Glu)
NM_004629.2(FANCG):c.1410A>G (p.Lys470=) rs2131053755
NM_004629.2(FANCG):c.1416A>G (p.Ala472=) rs1587139991
NM_004629.2(FANCG):c.1416A>T (p.Ala472=) rs1587139991
NM_004629.2(FANCG):c.1428del (p.Phe476fs)
NM_004629.2(FANCG):c.1433+10G>A
NM_004629.2(FANCG):c.1433+1G>A rs1829065047
NM_004629.2(FANCG):c.1433+5G>T
NM_004629.2(FANCG):c.1434-10C>T
NM_004629.2(FANCG):c.1434-14_1434-5del
NM_004629.2(FANCG):c.1434-16C>T
NM_004629.2(FANCG):c.1434-19G>A
NM_004629.2(FANCG):c.1434-1G>C
NM_004629.2(FANCG):c.1434-2A>C rs1829062071
NM_004629.2(FANCG):c.1434-7A>G
NM_004629.2(FANCG):c.1437C>G (p.Cys479Trp) rs904322133
NM_004629.2(FANCG):c.1440C>G (p.Leu480=)
NM_004629.2(FANCG):c.1440C>T (p.Leu480=) rs776146510
NM_004629.2(FANCG):c.1441G>A (p.Glu481Lys)
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro) rs1829061760
NM_004629.2(FANCG):c.1460C>T (p.Thr487Ile) rs2131053434
NM_004629.2(FANCG):c.1462C>T (p.Pro488Ser)
NM_004629.2(FANCG):c.1464T>G (p.Pro488=)
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
NM_004629.2(FANCG):c.1468G>T (p.Glu490Ter) rs2131053417
NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)
NM_004629.2(FANCG):c.1472_1473del (p.Lys491fs)
NM_004629.2(FANCG):c.1473del (p.Glu492fs)
NM_004629.2(FANCG):c.1474G>C (p.Glu492Gln) rs1018027137
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
NM_004629.2(FANCG):c.1480+11C>T
NM_004629.2(FANCG):c.1480+14T>C
NM_004629.2(FANCG):c.1480+15C>G
NM_004629.2(FANCG):c.1480+15C>T
NM_004629.2(FANCG):c.1480+1G>A
NM_004629.2(FANCG):c.1480+5T>C rs1554670176
NM_004629.2(FANCG):c.1480+5T>G rs1554670176
NM_004629.2(FANCG):c.1481-11G>C
NM_004629.2(FANCG):c.1481-16T>C
NM_004629.2(FANCG):c.1481-18T>C
NM_004629.2(FANCG):c.1481-18T>G
NM_004629.2(FANCG):c.1481-1G>C rs2131053141
NM_004629.2(FANCG):c.1481G>T (p.Gly494Val) rs770011456
NM_004629.2(FANCG):c.1482G>C (p.Gly494=) rs1196684565
NM_004629.2(FANCG):c.1483del rs760738460
NM_004629.2(FANCG):c.1495T>G (p.Cys499Gly)
NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)
NM_004629.2(FANCG):c.1498G>A (p.Glu500Lys)
NM_004629.2(FANCG):c.1500G>A (p.Glu500=) rs1045640267
NM_004629.2(FANCG):c.1501C>T (p.Gln501Ter) rs2131053086
NM_004629.2(FANCG):c.1503G>A (p.Gln501=)
NM_004629.2(FANCG):c.1505G>T (p.Gly502Val)
NM_004629.2(FANCG):c.1506A>T (p.Gly502=)
NM_004629.2(FANCG):c.150C>G (p.Leu50=)
NM_004629.2(FANCG):c.1512G>A (p.Lys504=) rs746983204
NM_004629.2(FANCG):c.1518T>C (p.Asp506=)
NM_004629.2(FANCG):c.1519G>T (p.Ala507Ser)
NM_004629.2(FANCG):c.1520C>T (p.Ala507Val)
NM_004629.2(FANCG):c.1521G>C (p.Ala507=)
NM_004629.2(FANCG):c.1525C>T (p.Leu509=)
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) rs1829056657
NM_004629.2(FANCG):c.1530G>A (p.Gln510=) rs2131053024
NM_004629.2(FANCG):c.153A>G (p.Arg51=)
NM_004629.2(FANCG):c.1542A>G (p.Ala514=) rs2131052991
NM_004629.2(FANCG):c.1546G>A (p.Ala516Thr)
NM_004629.2(FANCG):c.1548C>T (p.Ala516=)
NM_004629.2(FANCG):c.1556G>A (p.Ser519Asn) rs1209146448
NM_004629.2(FANCG):c.1560T>C (p.Arg520=)
NM_004629.2(FANCG):c.1561G>T (p.Gly521Ter) rs1829055945
NM_004629.2(FANCG):c.1562G>A (p.Gly521Glu) rs1829055917
NM_004629.2(FANCG):c.156G>A (p.Gly52=)
NM_004629.2(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter) rs1461242610
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer) rs753485145
NM_004629.2(FANCG):c.1582G>A (p.Gly528Ser)
NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter) rs1157985962
NM_004629.2(FANCG):c.1586A>G (p.Gln529Arg)
NM_004629.2(FANCG):c.1592C>T (p.Thr531Ile)
NM_004629.2(FANCG):c.1593del (p.Ala533fs) rs761519737
NM_004629.2(FANCG):c.159C>T (p.Leu53=)
NM_004629.2(FANCG):c.15C>G (p.Thr5=) rs748963569
NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)
NM_004629.2(FANCG):c.1604dup (p.Asp536fs)
NM_004629.2(FANCG):c.1614C>T (p.Leu538=) rs1189580729
NM_004629.2(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.2(FANCG):c.1620T>C (p.Ser540=)
NM_004629.2(FANCG):c.1633C>G (p.Pro545Ala) rs1315654777
NM_004629.2(FANCG):c.1635A>G (p.Pro545=)
NM_004629.2(FANCG):c.1636+10C>G rs1291672216
NM_004629.2(FANCG):c.1636+13G>A
NM_004629.2(FANCG):c.1636+13dup
NM_004629.2(FANCG):c.1636+14C>T
NM_004629.2(FANCG):c.1636+15A>G
NM_004629.2(FANCG):c.1636+19C>T
NM_004629.2(FANCG):c.1636+1G>A rs1829054352
NM_004629.2(FANCG):c.1636+1G>C
NM_004629.2(FANCG):c.1636+1_1636+5delinsA rs1829054259
NM_004629.2(FANCG):c.1636+5G>A rs748961871
NM_004629.2(FANCG):c.1636+7_1636+8delinsGA
NM_004629.2(FANCG):c.1636G>C (p.Gly546Arg) rs766086210
NM_004629.2(FANCG):c.1637-13G>A
NM_004629.2(FANCG):c.1637-18T>A rs1829043715
NM_004629.2(FANCG):c.1637-1G>A
NM_004629.2(FANCG):c.1637-2A>G
NM_004629.2(FANCG):c.1637-2_1637-1insCTG rs2131051989
NM_004629.2(FANCG):c.1637-5T>C
NM_004629.2(FANCG):c.1637-7G>A
NM_004629.2(FANCG):c.1642C>G (p.Arg548Gly)
NM_004629.2(FANCG):c.1643G>A (p.Arg548Gln) rs1587138702
NM_004629.2(FANCG):c.1648A>G (p.Thr550Ala) rs1255677446
NM_004629.2(FANCG):c.1649del (p.Thr550fs) rs1829042768
NM_004629.2(FANCG):c.1651T>C (p.Tyr551His)
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter) rs2131051951
NM_004629.2(FANCG):c.1653del (p.His553fs)
NM_004629.2(FANCG):c.1656T>C (p.Phe552=)
NM_004629.2(FANCG):c.1657C>T (p.His553Tyr) rs1251259584
NM_004629.2(FANCG):c.1663C>T (p.Leu555Phe) rs2131051917
NM_004629.2(FANCG):c.1665T>G (p.Leu555=) rs2131051914
NM_004629.2(FANCG):c.1668G>T (p.Gln556His) rs1829042320
NM_004629.2(FANCG):c.1671T>G (p.Thr557=)
NM_004629.2(FANCG):c.1680G>A (p.Arg560=)
NM_004629.2(FANCG):c.1683A>G (p.Leu561=)
NM_004629.2(FANCG):c.1687C>A (p.Arg563=) rs754258080
NM_004629.2(FANCG):c.1689G>C (p.Arg563=) rs138855718
NM_004629.2(FANCG):c.168T>C (p.Ser56=) rs2131059736
NM_004629.2(FANCG):c.1692G>A (p.Arg564=)
NM_004629.2(FANCG):c.1708C>T (p.Leu570Phe)
NM_004629.2(FANCG):c.1710C>G (p.Leu570=)
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.1717A>C (p.Arg573=) rs2131051789
NM_004629.2(FANCG):c.1718G>T (p.Arg573Met) rs200466062
NM_004629.2(FANCG):c.171G>C (p.Leu57=) rs2131059726
NM_004629.2(FANCG):c.1727C>T (p.Ala576Val)
NM_004629.2(FANCG):c.1740G>A (p.Gly580=) rs773083883
NM_004629.2(FANCG):c.1745A>G (p.His582Arg) rs1196002404
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) rs786204205
NM_004629.2(FANCG):c.1749del (p.Asp584fs) rs1829040508
NM_004629.2(FANCG):c.175+13T>A
NM_004629.2(FANCG):c.175+15C>T
NM_004629.2(FANCG):c.175+16C>G
NM_004629.2(FANCG):c.175+16C>T
NM_004629.2(FANCG):c.175+16_175+17del
NM_004629.2(FANCG):c.175+4G>C rs1060501869
NM_004629.2(FANCG):c.175+7G>T
NM_004629.2(FANCG):c.175+9G>A
NM_004629.2(FANCG):c.1752T>C (p.Asp584=)
NM_004629.2(FANCG):c.1755T>C (p.Ala585=)
NM_004629.2(FANCG):c.176-14C>T rs1829131097
NM_004629.2(FANCG):c.176-18C>G
NM_004629.2(FANCG):c.176-1G>A rs2131059176
NM_004629.2(FANCG):c.176-20G>A
NM_004629.2(FANCG):c.176-6_190del
NM_004629.2(FANCG):c.1760+14C>T
NM_004629.2(FANCG):c.1760+4A>T
NM_004629.2(FANCG):c.1760+7C>T
NM_004629.2(FANCG):c.1760+9C>G
NM_004629.2(FANCG):c.1760+9C>T
NM_004629.2(FANCG):c.1761-10T>C rs1363368892
NM_004629.2(FANCG):c.1761-19C>T
NM_004629.2(FANCG):c.1761-1G>A rs1829035889
NM_004629.2(FANCG):c.1761-1G>C rs1829035889
NM_004629.2(FANCG):c.1761-8C>T rs1179718076
NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe) rs1420316004
NM_004629.2(FANCG):c.1767C>T (p.Leu589=) rs1060504369
NM_004629.2(FANCG):c.1770C>A (p.Pro590=)
NM_004629.2(FANCG):c.1770C>G (p.Pro590=) rs1563984984
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
NM_004629.2(FANCG):c.1774T>C (p.Tyr592His) rs768325047
NM_004629.2(FANCG):c.1777C>T (p.Leu593=) rs746613103
NM_004629.2(FANCG):c.1779A>G (p.Leu593=) rs2131051289
NM_004629.2(FANCG):c.177G>A (p.Gly59=) rs1554670511
NM_004629.2(FANCG):c.177G>T (p.Gly59=)
NM_004629.2(FANCG):c.1782A>C (p.Glu594Asp)
NM_004629.2(FANCG):c.1785C>G (p.Ser595Arg)
NM_004629.2(FANCG):c.178C>T (p.Leu60Phe) rs1026058105
NM_004629.2(FANCG):c.1793G>A (p.Ser598Asn)
NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)
NM_004629.2(FANCG):c.179del (p.Leu60fs) rs1829130643
NM_004629.2(FANCG):c.1800C>T (p.Ile600=) rs2131051244
NM_004629.2(FANCG):c.1804C>T (p.Pro602Ser)
NM_004629.2(FANCG):c.1810G>C (p.Asp604His)
NM_004629.2(FANCG):c.1813C>T (p.Arg605Cys)
NM_004629.2(FANCG):c.1820C>A (p.Ala607Asp)
NM_004629.2(FANCG):c.1825del (p.Glu610fs)
NM_004629.2(FANCG):c.182del (p.Pro61fs)
NM_004629.2(FANCG):c.1837C>T (p.Arg613Trp)
NM_004629.2(FANCG):c.1846C>T (p.Leu616=)
NM_004629.2(FANCG):c.1851A>G (p.Pro617=) rs2131051090
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs) rs532302967
NM_004629.2(FANCG):c.1863C>T (p.Asp621=)
NM_004629.2(FANCG):c.1864C>T (p.Leu622=)
NM_004629.2(FANCG):c.193C>T (p.Pro65Ser) rs2131059151
NM_004629.2(FANCG):c.204C>T (p.Pro68=)
NM_004629.2(FANCG):c.210G>A (p.Glu70=)
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.213G>A (p.Leu71=)
NM_004629.2(FANCG):c.214_217del (p.Thr72fs) rs747660501
NM_004629.2(FANCG):c.21T>C (p.Ser7=) rs747679533
NM_004629.2(FANCG):c.21T>G (p.Ser7=) rs747679533
NM_004629.2(FANCG):c.21dup (p.Val8fs)
NM_004629.2(FANCG):c.228C>T (p.Asn76=)
NM_004629.2(FANCG):c.237C>A (p.Ile79=) rs2131059090
NM_004629.2(FANCG):c.240G>A (p.Leu80=) rs1221719766
NM_004629.2(FANCG):c.243G>A (p.Arg81=)
NM_004629.2(FANCG):c.244G>A (p.Ala82Thr)
NM_004629.2(FANCG):c.244dup (p.Ala82fs) rs1829129696
NM_004629.2(FANCG):c.247del (p.Ser83fs) rs1829129667
NM_004629.2(FANCG):c.24G>T (p.Val8=) rs2131060404
NM_004629.2(FANCG):c.255C>T (p.Ala85=) rs2131059041
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) rs1829129603
NM_004629.2(FANCG):c.261T>C (p.Gly87=) rs2131059036
NM_004629.2(FANCG):c.263T>G (p.Phe88Cys)
NM_004629.2(FANCG):c.272del (p.Asp91fs)
NM_004629.2(FANCG):c.273T>C (p.Asp91=) rs2131059024
NM_004629.2(FANCG):c.276G>A (p.Gln92=) rs752352160
NM_004629.2(FANCG):c.279C>T (p.Ala93=) rs2131059010
NM_004629.2(FANCG):c.285T>C (p.Asp95=)
NM_004629.2(FANCG):c.292C>A (p.Arg98=) rs532525154
NM_004629.2(FANCG):c.293G>T (p.Arg98Leu) rs372854981
NM_004629.2(FANCG):c.294G>A (p.Arg98=)
NM_004629.2(FANCG):c.297C>T (p.Ser99=) rs770190553
NM_004629.2(FANCG):c.300A>G (p.Leu100=)
NM_004629.2(FANCG):c.303G>A (p.Glu101=)
NM_004629.2(FANCG):c.306_307del (p.Arg102fs)
NM_004629.2(FANCG):c.307+11G>A
NM_004629.2(FANCG):c.307+15T>C
NM_004629.2(FANCG):c.307+18T>A
NM_004629.2(FANCG):c.307+1G>A
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.307+20C>T
NM_004629.2(FANCG):c.307+2del rs1829128546
NM_004629.2(FANCG):c.307+7G>A rs768958840
NM_004629.2(FANCG):c.308-11A>C
NM_004629.2(FANCG):c.308-11A>T
NM_004629.2(FANCG):c.308-12T>G
NM_004629.2(FANCG):c.308-15G>A
NM_004629.2(FANCG):c.308-17G>A
NM_004629.2(FANCG):c.308-1G>A
NM_004629.2(FANCG):c.308-21GT[6] rs756482885
NM_004629.2(FANCG):c.308-25_308-12del rs1563987234
NM_004629.2(FANCG):c.308-4A>G
NM_004629.2(FANCG):c.308-6C>T rs2131058643
NM_004629.2(FANCG):c.310C>T (p.Leu104=) rs1829123908
NM_004629.2(FANCG):c.319_320del (p.Gln107fs)
NM_004629.2(FANCG):c.321G>A (p.Gln107=) rs1829123663
NM_004629.2(FANCG):c.322G>A (p.Glu108Lys)
NM_004629.2(FANCG):c.333G>A (p.Gly111=) rs1060504370
NM_004629.2(FANCG):c.333G>C (p.Gly111=) rs1060504370
NM_004629.2(FANCG):c.335_352del (p.Pro112_Gly117del)
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_004629.2(FANCG):c.337A>G (p.Arg113Gly) rs2131058590
NM_004629.2(FANCG):c.33C>T (p.Ser11=)
NM_004629.2(FANCG):c.345A>G (p.Glu115=) rs1213271836
NM_004629.2(FANCG):c.346C>T (p.Gln116Ter) rs1829123346
NM_004629.2(FANCG):c.347_348del (p.Gln116fs)
NM_004629.2(FANCG):c.351G>A (p.Gly117=)
NM_004629.2(FANCG):c.355A>C (p.Arg119=)
NM_004629.2(FANCG):c.360G>A (p.Glu120=)
NM_004629.2(FANCG):c.363G>C (p.Leu121=)
NM_004629.2(FANCG):c.365G>A (p.Trp122Ter) rs2131058553
NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)
NM_004629.2(FANCG):c.375C>A (p.Val125=) rs199754122
NM_004629.2(FANCG):c.380_386dup (p.Leu131fs)
NM_004629.2(FANCG):c.384T>A (p.Ala128=) rs2131058508
NM_004629.2(FANCG):c.395dup (p.Pro133fs) rs2131058481
NM_004629.2(FANCG):c.396G>A (p.Leu132=)
NM_004629.2(FANCG):c.39G>T (p.Leu13=) rs758976992
NM_004629.2(FANCG):c.403C>A (p.Leu135Met)
NM_004629.2(FANCG):c.405G>A (p.Leu135=) rs1251066873
NM_004629.2(FANCG):c.405G>T (p.Leu135=)
NM_004629.2(FANCG):c.410C>G (p.Ser137Cys) rs1203036492
NM_004629.2(FANCG):c.412G>C (p.Ala138Pro)
NM_004629.2(FANCG):c.415C>T (p.Leu139=)
NM_004629.2(FANCG):c.420C>A (p.His140Gln)
NM_004629.2(FANCG):c.420C>T (p.His140=) rs764566651
NM_004629.2(FANCG):c.426G>C (p.Leu142=)
NM_004629.2(FANCG):c.429T>C (p.Val143=)
NM_004629.2(FANCG):c.431G>C (p.Gly144Ala) rs767880403
NM_004629.2(FANCG):c.432C>T (p.Gly144=)
NM_004629.2(FANCG):c.433C>T (p.Leu145=)
NM_004629.2(FANCG):c.443C>T (p.Ala148Val) rs1829121038
NM_004629.2(FANCG):c.447C>G (p.Leu149=)
NM_004629.2(FANCG):c.448T>C (p.Trp150Arg) rs202114813
NM_004629.2(FANCG):c.45G>C (p.Leu15=) rs750918728
NM_004629.2(FANCG):c.468T>C (p.Leu156=) rs2131058320
NM_004629.2(FANCG):c.480C>T (p.Ala160=) rs746680732
NM_004629.2(FANCG):c.486A>T (p.Leu162Phe) rs779677132
NM_004629.2(FANCG):c.487C>T (p.Leu163=)
NM_004629.2(FANCG):c.495C>T (p.Thr165=) rs1829120053
NM_004629.2(FANCG):c.497T>C (p.Leu166Pro)
NM_004629.2(FANCG):c.501T>C (p.Asn167=)
NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)
NM_004629.2(FANCG):c.510+12del
NM_004629.2(FANCG):c.510+14T>A
NM_004629.2(FANCG):c.510+16_510+17del
NM_004629.2(FANCG):c.510+17C>T
NM_004629.2(FANCG):c.510+1G>A
NM_004629.2(FANCG):c.510+5T>C rs921564097
NM_004629.2(FANCG):c.510+7G>C rs1304686615
NM_004629.2(FANCG):c.511-10_511-8del rs1384885358
NM_004629.2(FANCG):c.511-11T>C rs2131057321
NM_004629.2(FANCG):c.511-3_511-2del rs1491369358
NM_004629.2(FANCG):c.511-4C>T
NM_004629.2(FANCG):c.511-5C>G
NM_004629.2(FANCG):c.511-5C>T
NM_004629.2(FANCG):c.511-6C>T rs1244108459
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004629.2(FANCG):c.517G>A (p.Ala173Thr)
NM_004629.2(FANCG):c.519C>G (p.Ala173=) rs2131057288
NM_004629.2(FANCG):c.51G>A (p.Arg17=) rs2131060330
NM_004629.2(FANCG):c.525G>C (p.Lys175Asn)
NM_004629.2(FANCG):c.529C>T (p.Leu177=) rs1056307632
NM_004629.2(FANCG):c.52G>A (p.Glu18Lys) rs1829144761
NM_004629.2(FANCG):c.534G>C (p.Leu178=) rs2131057260
NM_004629.2(FANCG):c.542_556del (p.Leu181_Ser185del)
NM_004629.2(FANCG):c.54A>C (p.Glu18Asp) rs1563987701
NM_004629.2(FANCG):c.54A>G (p.Glu18=)
NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.558C>G (p.Pro186=) rs1554670415
NM_004629.2(FANCG):c.560C>A (p.Pro187Gln)
NM_004629.2(FANCG):c.560del (p.Pro187fs) rs2131057213
NM_004629.2(FANCG):c.563C>T (p.Ala188Val)
NM_004629.2(FANCG):c.565G>T (p.Glu189Ter) rs1829104194
NM_004629.2(FANCG):c.572T>C (p.Leu191Ser)
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) rs755361015
NM_004629.2(FANCG):c.580C>T (p.Pro194Ser) rs1554670412
NM_004629.2(FANCG):c.582A>G (p.Pro194=)
NM_004629.2(FANCG):c.587C>T (p.Thr196Ile)
NM_004629.2(FANCG):c.591G>A (p.Leu197=)
NM_004629.2(FANCG):c.591G>T (p.Leu197=) rs2131057157
NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)
NM_004629.2(FANCG):c.595G>A (p.Asp199Asn)
NM_004629.2(FANCG):c.601C>T (p.Gln201Ter)
NM_004629.2(FANCG):c.603G>A (p.Gln201=) rs2131057141
NM_004629.2(FANCG):c.604G>T (p.Gly202Ter) rs1449918930
NM_004629.2(FANCG):c.612G>A (p.Lys204=)
NM_004629.2(FANCG):c.616G>A (p.Val206Ile) rs768648609
NM_004629.2(FANCG):c.618C>T (p.Val206=) rs1587142434
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004629.2(FANCG):c.622C>T (p.Leu208=) rs1587142420
NM_004629.2(FANCG):c.626C>T (p.Thr209Ile) rs1382724792
NM_004629.2(FANCG):c.633T>A (p.Phe211Leu)
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.63C>A (p.Asp21Glu)
NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)
NM_004629.2(FANCG):c.646+18C>T
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004629.2(FANCG):c.646+8A>G rs2131057022
NM_004629.2(FANCG):c.646+9G>C
NM_004629.2(FANCG):c.647-15C>G
NM_004629.2(FANCG):c.647-18C>T
NM_004629.2(FANCG):c.647-2_649del rs2131056701
NM_004629.2(FANCG):c.647-3C>T rs1311964497
NM_004629.2(FANCG):c.647-4T>G rs1436051790
NM_004629.2(FANCG):c.64C>A (p.Arg22=)
NM_004629.2(FANCG):c.64C>T (p.Arg22Trp)
NM_004629.2(FANCG):c.65G>A (p.Arg22Gln) rs1829144428
NM_004629.2(FANCG):c.65G>C (p.Arg22Pro) rs1829144428
NM_004629.2(FANCG):c.662T>A (p.Ile221Asn) rs1829099355
NM_004629.2(FANCG):c.665C>T (p.Thr222Ile)
NM_004629.2(FANCG):c.666A>G (p.Thr222=)
NM_004629.2(FANCG):c.669G>A (p.Gly223=) rs143230416
NM_004629.2(FANCG):c.672C>T (p.Asn224=) rs774051315
NM_004629.2(FANCG):c.682del (p.Ala228fs)
NM_004629.2(FANCG):c.684A>G (p.Ala228=)
NM_004629.2(FANCG):c.684del (p.Ala228_Leu229insTer)
NM_004629.2(FANCG):c.685C>T (p.Leu229=) rs2131056622
NM_004629.2(FANCG):c.689del (p.Ser230fs) rs2131056614
NM_004629.2(FANCG):c.690C>A (p.Ser230Arg) rs1333976481
NM_004629.2(FANCG):c.690C>T (p.Ser230=)
NM_004629.2(FANCG):c.692del (p.Ser231fs)
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
NM_004629.2(FANCG):c.699T>C (p.His233=)
NM_004629.2(FANCG):c.69C>T (p.Leu23=)
NM_004629.2(FANCG):c.702A>G (p.Glu234=)
NM_004629.2(FANCG):c.706G>A (p.Ala236Thr) rs2131056564
NM_004629.2(FANCG):c.70G>C (p.Val24Leu)
NM_004629.2(FANCG):c.713dup (p.Leu239fs) rs2131056549
NM_004629.2(FANCG):c.714C>A (p.Gly238=) rs1185716009
NM_004629.2(FANCG):c.714C>G (p.Gly238=)
NM_004629.2(FANCG):c.714C>T (p.Gly238=)
NM_004629.2(FANCG):c.717G>A (p.Leu239=) rs1350532745
NM_004629.2(FANCG):c.717G>C (p.Leu239=)
NM_004629.2(FANCG):c.721_733del (p.Pro241fs)
NM_004629.2(FANCG):c.722_734del (p.Pro241fs)
NM_004629.2(FANCG):c.725G>A (p.Arg242Gln)
NM_004629.2(FANCG):c.729T>G (p.Pro243=) rs199736443
NM_004629.2(FANCG):c.732G>T (p.Val244=)
NM_004629.2(FANCG):c.736G>T (p.Val246Phe)
NM_004629.2(FANCG):c.738C>A (p.Val246=)
NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
NM_004629.2(FANCG):c.73C>A (p.Arg25=)
NM_004629.2(FANCG):c.743T>C (p.Val248Ala) rs1221668009
NM_004629.2(FANCG):c.744G>A (p.Val248=) rs1351998495
NM_004629.2(FANCG):c.763T>C (p.Cys255Arg)
NM_004629.2(FANCG):c.764G>A (p.Cys255Tyr)
NM_004629.2(FANCG):c.768C>T (p.His256=)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004629.2(FANCG):c.76C>T (p.Gln26Ter) rs2131060266
NM_004629.2(FANCG):c.770G>A (p.Arg257His) rs372234656
NM_004629.2(FANCG):c.777+10G>A rs374991414
NM_004629.2(FANCG):c.777+12C>T
NM_004629.2(FANCG):c.777+15A>G
NM_004629.2(FANCG):c.777+18G>A
NM_004629.2(FANCG):c.777+18G>T
NM_004629.2(FANCG):c.777+1G>A rs1060501862
NM_004629.2(FANCG):c.777+8C>T rs367809061
NM_004629.2(FANCG):c.778-10A>G
NM_004629.2(FANCG):c.778-12C>G
NM_004629.2(FANCG):c.778-13C>A
NM_004629.2(FANCG):c.778-13_778-11del rs2131056154
NM_004629.2(FANCG):c.778-15C>G
NM_004629.2(FANCG):c.778-1G>A rs767518932
NM_004629.2(FANCG):c.778-1G>C rs767518932
NM_004629.2(FANCG):c.778-20G>A rs749563301
NM_004629.2(FANCG):c.778-4T>G rs2131056132
NM_004629.2(FANCG):c.778-9T>A
NM_004629.2(FANCG):c.780A>G (p.Gly260=) rs751407167
NM_004629.2(FANCG):c.787C>G (p.Gln263Glu) rs149721361
NM_004629.2(FANCG):c.787_788del (p.Gln263fs)
NM_004629.2(FANCG):c.797dup (p.Leu267fs)
NM_004629.2(FANCG):c.798G>A (p.Leu266=)
NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)
NM_004629.2(FANCG):c.801G>C (p.Leu267Phe) rs1482595465
NM_004629.2(FANCG):c.807G>C (p.Leu269Phe)
NM_004629.2(FANCG):c.819G>A (p.Leu273=) rs2131056040
NM_004629.2(FANCG):c.81C>A (p.Ala27=) rs1060504372
NM_004629.2(FANCG):c.81C>T (p.Ala27=) rs1060504372
NM_004629.2(FANCG):c.824_825del (p.Glu275fs) rs867467817
NM_004629.2(FANCG):c.825_828del (p.Glu275fs)
NM_004629.2(FANCG):c.833C>T (p.Ala278Val) rs771395169
NM_004629.2(FANCG):c.834C>T (p.Ala278=) rs1466753644
NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)
NM_004629.2(FANCG):c.84+13C>T
NM_004629.2(FANCG):c.84+16G>A
NM_004629.2(FANCG):c.84+1G>A
NM_004629.2(FANCG):c.84+53G>T rs1563987651
NM_004629.2(FANCG):c.84+8_84+9del rs1829143867
NM_004629.2(FANCG):c.84+9G>A
NM_004629.2(FANCG):c.84+9G>C
NM_004629.2(FANCG):c.84+9del rs2131060242
NM_004629.2(FANCG):c.842del (p.Pro281fs) rs2131055994
NM_004629.2(FANCG):c.844C>T (p.Pro282Ser) rs770009374
NM_004629.2(FANCG):c.85-10C>T rs752826583
NM_004629.2(FANCG):c.85-13C>G
NM_004629.2(FANCG):c.85-16C>A
NM_004629.2(FANCG):c.85-18C>T
NM_004629.2(FANCG):c.85-19C>A
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.85-4G>T
NM_004629.2(FANCG):c.85-7G>A rs946449199
NM_004629.2(FANCG):c.85-9_85-8del
NM_004629.2(FANCG):c.865C>A (p.Leu289Ile)
NM_004629.2(FANCG):c.873G>A (p.Gln291=)
NM_004629.2(FANCG):c.877C>T (p.Leu293=)
NM_004629.2(FANCG):c.87G>T (p.Val29=)
NM_004629.2(FANCG):c.882G>C (p.Gly294=)
NM_004629.2(FANCG):c.882G>T (p.Gly294=) rs2131055932
NM_004629.2(FANCG):c.883dup (p.Asp295fs) rs1829092483
NM_004629.2(FANCG):c.889A>G (p.Thr297Ala)
NM_004629.2(FANCG):c.895G>A (p.Glu299Lys)
NM_004629.2(FANCG):c.899del (p.Leu300fs) rs1829092191
NM_004629.2(FANCG):c.906_907delinsAT (p.Ser302Arg)
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
NM_004629.2(FANCG):c.907del (p.Leu303fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.2(FANCG):c.910G>C (p.Glu304Gln)
NM_004629.2(FANCG):c.910G>T (p.Glu304Ter) rs1829091954
NM_004629.2(FANCG):c.912G>A (p.Glu304=)
NM_004629.2(FANCG):c.913C>T (p.Leu305=)
NM_004629.2(FANCG):c.915G>A (p.Leu305=) rs763736360
NM_004629.2(FANCG):c.916C>A (p.Leu306Ile)
NM_004629.2(FANCG):c.917T>C (p.Leu306Pro)
NM_004629.2(FANCG):c.920T>G (p.Val307Gly) rs774982952
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
NM_004629.2(FANCG):c.924+14_924+15del
NM_004629.2(FANCG):c.924+1G>A rs1829091761
NM_004629.2(FANCG):c.924+20A>C
NM_004629.2(FANCG):c.924+9C>T
NM_004629.2(FANCG):c.925-11T>C
NM_004629.2(FANCG):c.925-12T>G
NM_004629.2(FANCG):c.925-13C>A rs896457719
NM_004629.2(FANCG):c.925-13C>T
NM_004629.2(FANCG):c.925-18T>C
NM_004629.2(FANCG):c.925-1G>C
NM_004629.2(FANCG):c.925-1G>T
NM_004629.2(FANCG):c.925-20T>C rs1442157681
NM_004629.2(FANCG):c.925-2A>G rs397507561
NM_004629.2(FANCG):c.925-7C>T
NM_004629.2(FANCG):c.925-9C>T
NM_004629.2(FANCG):c.927C>G (p.Ala309=) rs370002843
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
NM_004629.2(FANCG):c.936C>G (p.Val312=) rs934681493
NM_004629.2(FANCG):c.936C>T (p.Val312=) rs934681493
NM_004629.2(FANCG):c.939A>G (p.Pro313=)
NM_004629.2(FANCG):c.941del (p.Cys314fs)
NM_004629.2(FANCG):c.948C>A (p.Ser316=) rs2131055519
NM_004629.2(FANCG):c.954C>T (p.Ala318=)
NM_004629.2(FANCG):c.955C>A (p.Pro319Thr)
NM_004629.2(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_004629.2(FANCG):c.957G>C (p.Pro319=) rs145092954
NM_004629.2(FANCG):c.965T>G (p.Leu322Arg)
NM_004629.2(FANCG):c.966C>T (p.Leu322=)
NM_004629.2(FANCG):c.978A>G (p.Glu326=)
NM_004629.2(FANCG):c.979T>C (p.Leu327=) rs2131055465
NM_004629.2(FANCG):c.981dup (p.Leu328fs) rs2131055463
NM_004629.2(FANCG):c.982C>T (p.Leu328=) rs1829086717
NM_004629.2(FANCG):c.984A>G (p.Leu328=) rs375991144
NM_004629.2(FANCG):c.987G>A (p.Leu329=) rs2131055445
NM_004629.2(FANCG):c.990A>G (p.Pro330=)
NM_004629.2(FANCG):c.993A>G (p.Pro331=)
NM_004629.2(FANCG):c.996T>A (p.Pro332=)
NM_004629.2(FANCG):c.99C>G (p.Ser33=) rs762740884
NM_004629.2(FANCG):c.99_103del (p.Gly34fs)
NM_004629.2(FANCG):c.9C>G (p.Arg3=) rs2131060423
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
NM_005050.4(ABCD4):c.1028+19C>G
NM_005050.4(ABCD4):c.1028+20C>A rs2139899171
NM_005050.4(ABCD4):c.1028+8C>T
NM_005050.4(ABCD4):c.1028+9G>T
NM_005050.4(ABCD4):c.1029-14C>G
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1043G>T (p.Arg348Leu) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met) rs35073715
NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
NM_005050.4(ABCD4):c.1118+1G>A
NM_005050.4(ABCD4):c.1119-20C>T
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
NM_005050.4(ABCD4):c.1125del (p.Trp377fs) rs1440898011
NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)
NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)
NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val) rs2081160348
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile) rs945270666
NM_005050.4(ABCD4):c.1294del (p.Arg432fs) rs1435760575
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln) rs745414252
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser) rs2081143591
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met) rs200761248
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
NM_005050.4(ABCD4):c.1327+9C>A
NM_005050.4(ABCD4):c.1328-10G>A
NM_005050.4(ABCD4):c.1328-18T>C
NM_005050.4(ABCD4):c.1328-19G>A rs376137295
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser) rs1594861158
NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
NM_005050.4(ABCD4):c.1419+15G>A
NM_005050.4(ABCD4):c.1420-11dup
NM_005050.4(ABCD4):c.1420-3del
NM_005050.4(ABCD4):c.1425dup (p.Tyr476fs)
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His) rs1045211254
NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
NM_005050.4(ABCD4):c.1456+9G>T
NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys) rs2080853826
NM_005050.4(ABCD4):c.1457-18G>A
NM_005050.4(ABCD4):c.1457-1G>C
NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)
NM_005050.4(ABCD4):c.1507-11G>C rs375805220
NM_005050.4(ABCD4):c.1507-3_1507-2dup rs746298456
NM_005050.4(ABCD4):c.1507-4A>G
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
NM_005050.4(ABCD4):c.1559+13C>T
NM_005050.4(ABCD4):c.1559+16G>A
NM_005050.4(ABCD4):c.1559+7_1559+11del rs1381694360
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys) rs2140107509
NM_005050.4(ABCD4):c.158-14C>T
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)
NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr) rs754370477
NM_005050.4(ABCD4):c.1637-15G>T rs2079892790
NM_005050.4(ABCD4):c.1637-6C>G
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly) rs2139698542
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg) rs138753274
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His) rs1204078851
NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe) rs2139689489
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
NM_005050.4(ABCD4):c.1A>G (p.Met1Val) rs2140174798
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu) rs2140093719
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
NM_005050.4(ABCD4):c.286-10C>G
NM_005050.4(ABCD4):c.286-3C>T
NM_005050.4(ABCD4):c.286-7T>A
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
NM_005050.4(ABCD4):c.342C>T (p.Asp114=)
NM_005050.4(ABCD4):c.373del (p.Arg125fs)
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
NM_005050.4(ABCD4):c.38+16G>A
NM_005050.4(ABCD4):c.38+18G>A
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
NM_005050.4(ABCD4):c.39-19C>T
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala) rs972140495
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
NM_005050.4(ABCD4):c.426-11A>G rs2140018313
NM_005050.4(ABCD4):c.426-4C>G rs765378243
NM_005050.4(ABCD4):c.432G>A (p.Gln144=)
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu) rs150967109
NM_005050.4(ABCD4):c.448G>A (p.Val150Met) rs574925291
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr) rs778245157
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)
NM_005050.4(ABCD4):c.537C>T (p.Phe179=)
NM_005050.4(ABCD4):c.542+20C>G rs2140013486
NM_005050.4(ABCD4):c.543-11C>G
NM_005050.4(ABCD4):c.543-17CT[3]
NM_005050.4(ABCD4):c.543-17CT[4]
NM_005050.4(ABCD4):c.573C>T (p.Phe191=)
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
NM_005050.4(ABCD4):c.669-6G>A
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
NM_005050.4(ABCD4):c.719+2T>G rs2082518811
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
NM_005050.4(ABCD4):c.7dup (p.Val3fs)
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp) rs1566959741
NM_005050.4(ABCD4):c.810G>A (p.Leu270=)
NM_005050.4(ABCD4):c.814+13G>A
NM_005050.4(ABCD4):c.814+6C>T rs1012967402
NM_005050.4(ABCD4):c.816C>T (p.Ile272=)
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn) rs2081908223
NM_005050.4(ABCD4):c.861T>G (p.Val287=)
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly) rs2084043062
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
NM_005050.4(ABCD4):c.936+20A>C
NM_005050.4(ABCD4):c.936+20A>G
NM_005050.4(ABCD4):c.937-17C>T
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
NM_005050.4(ABCD4):c.996G>C (p.Thr332=)
NM_005050.4(ABCD4):c.9C>T (p.Val3=)
NM_005142.2(CBLIF):c.-376A>T rs796064509
NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile)
NM_005142.3(CBLIF):c.1002T>C (p.Asn334=)
NM_005142.3(CBLIF):c.1035T>C (p.Val345=)
NM_005142.3(CBLIF):c.1051C>G (p.Gln351Glu)
NM_005142.3(CBLIF):c.1054C>T (p.Arg352Cys)
NM_005142.3(CBLIF):c.1067T>C (p.Met356Thr)
NM_005142.3(CBLIF):c.106G>A (p.Val36Ile)
NM_005142.3(CBLIF):c.1074-10dup rs769669334
NM_005142.3(CBLIF):c.1074-14A>G rs541611142
NM_005142.3(CBLIF):c.1087A>G (p.Met363Val)
NM_005142.3(CBLIF):c.1092A>G (p.Thr364=)
NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile)
NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr)
NM_005142.3(CBLIF):c.1175dup (p.Thr393fs) rs1590854624
NM_005142.3(CBLIF):c.1181del (p.Pro394fs) rs1565206584
NM_005142.3(CBLIF):c.1192+7G>A rs1417075488
NM_005142.3(CBLIF):c.1221C>G (p.His407Gln) rs148989677
NM_005142.3(CBLIF):c.128T>C (p.Met43Thr)
NM_005142.3(CBLIF):c.138G>A (p.Ser46=) rs200472519
NM_005142.3(CBLIF):c.138G>T (p.Ser46=)
NM_005142.3(CBLIF):c.161del (p.Asn54fs) rs1590860794
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005142.3(CBLIF):c.20A>T (p.Tyr7Phe)
NM_005142.3(CBLIF):c.220C>T (p.Leu74Phe)
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) rs1565210437
NM_005142.3(CBLIF):c.256+18C>T
NM_005142.3(CBLIF):c.256+20C>T
NM_005142.3(CBLIF):c.257-13C>T
NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys)
NM_005142.3(CBLIF):c.27G>A (p.Leu9=)
NM_005142.3(CBLIF):c.288C>A (p.Ile96=)
NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter)
NM_005142.3(CBLIF):c.311G>A (p.Arg104Gln)
NM_005142.3(CBLIF):c.331T>A (p.Ser111Thr)
NM_005142.3(CBLIF):c.334A>C (p.Ile112Leu)
NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter) rs796064508
NM_005142.3(CBLIF):c.370+10G>T
NM_005142.3(CBLIF):c.370+13T>C
NM_005142.3(CBLIF):c.370+14G>A
NM_005142.3(CBLIF):c.370+1G>C
NM_005142.3(CBLIF):c.370+20G>A
NM_005142.3(CBLIF):c.370+83_426del
NM_005142.3(CBLIF):c.371-19T>C
NM_005142.3(CBLIF):c.371-4G>A
NM_005142.3(CBLIF):c.373C>T (p.Pro125Ser)
NM_005142.3(CBLIF):c.381T>G (p.Ala127=) rs1590860111
NM_005142.3(CBLIF):c.418T>C (p.Leu140=) rs141917734
NM_005142.3(CBLIF):c.432GAA[1] (p.Lys145del) rs770530971
NM_005142.3(CBLIF):c.438C>T (p.Asn146=)
NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu) rs781509423
NM_005142.3(CBLIF):c.468C>T (p.Arg156=)
NM_005142.3(CBLIF):c.47C>T (p.Ala16Val)
NM_005142.3(CBLIF):c.510A>T (p.Val170=)
NM_005142.3(CBLIF):c.512-17C>A
NM_005142.3(CBLIF):c.51G>A (p.Gly17=)
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) rs886048404
NM_005142.3(CBLIF):c.543C>A (p.Thr181=)
NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys) rs1866524413
NM_005142.3(CBLIF):c.62A>G (p.Gln21Arg)
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) rs1590859406
NM_005142.3(CBLIF):c.693+10T>G
NM_005142.3(CBLIF):c.693+8C>T
NM_005142.3(CBLIF):c.693+9G>A
NM_005142.3(CBLIF):c.749C>T (p.Thr250Met)
NM_005142.3(CBLIF):c.754A>T (p.Met252Leu) rs1866468089
NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg) rs756139879
NM_005142.3(CBLIF):c.78C>T (p.Cys26=)
NM_005142.3(CBLIF):c.79+10_79+12del
NM_005142.3(CBLIF):c.79+11T>C
NM_005142.3(CBLIF):c.80-1G>A rs1590860877
NM_005142.3(CBLIF):c.834G>A (p.Lys278=)
NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) rs886048403
NM_005142.3(CBLIF):c.871+14C>G
NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr)
NM_005142.3(CBLIF):c.997A>G (p.Ile333Val)
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=)
NM_005236.3(ERCC4):c.1002G>C (p.Ser334=) rs1162384254
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile) rs755219554
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys) rs145851520
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr) rs201410515
NM_005236.3(ERCC4):c.1062A>G (p.Lys354=)
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=)
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=)
NM_005236.3(ERCC4):c.1102+14T>C
NM_005236.3(ERCC4):c.1102+20C>T
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=)
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys) rs2032238318
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
NM_005236.3(ERCC4):c.114G>A (p.Gly38=)
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=)
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
NM_005236.3(ERCC4):c.1213+11dup
NM_005236.3(ERCC4):c.1213+8A>G
NM_005236.3(ERCC4):c.1214-10C>A
NM_005236.3(ERCC4):c.1214-8A>G
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly) rs374470560
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=) rs2141606819
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
NM_005236.3(ERCC4):c.129G>A (p.Arg43=)
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe) rs1596616623
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=)
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=) rs2141606968
NM_005236.3(ERCC4):c.132C>T (p.Leu44=) rs1482378244
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
NM_005236.3(ERCC4):c.1347C>G (p.Val449=) rs1352012558
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=)
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=)
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.147C>T (p.Leu49=)
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile) rs2141607404
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) rs146601373
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=)
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg) rs2141607524
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
NM_005236.3(ERCC4):c.1541A>G (p.Tyr514Cys)
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del) rs2141607630
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)
NM_005236.3(ERCC4):c.1599A>G (p.Glu533=)
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=)
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)
NM_005236.3(ERCC4):c.1650C>T (p.Pro550=)
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.3(ERCC4):c.165A>G (p.Pro55=)
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys) rs1443581940
NM_005236.3(ERCC4):c.1689C>G (p.Pro563=)
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys) rs765254949
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=) rs2141607987
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro) rs2032274770
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=)
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly) rs147105770
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=)
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=)
NM_005236.3(ERCC4):c.178C>T (p.Leu60=) rs2141937412
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu) rs1336284412
NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu) rs2031938186
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
NM_005236.3(ERCC4):c.1811+16T>C
NM_005236.3(ERCC4):c.1811+9T>A
NM_005236.3(ERCC4):c.1811+9T>G rs1235957230
NM_005236.3(ERCC4):c.1812-17T>C rs1399858595
NM_005236.3(ERCC4):c.1812-6A>G
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
NM_005236.3(ERCC4):c.183G>A (p.Val61=) rs1215558892
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=) rs766395322
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp) rs766395322
NM_005236.3(ERCC4):c.187A>C (p.Asn63His) rs1203098300
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) rs772899497
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)
NM_005236.3(ERCC4):c.1904+7C>T
NM_005236.3(ERCC4):c.1905-20G>C
NM_005236.3(ERCC4):c.1905-4A>G
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu) rs770771750
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)
NM_005236.3(ERCC4):c.1983A>T (p.Ala661=)
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=) rs2141617128
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr) rs771117594
NM_005236.3(ERCC4):c.1A>G (p.Met1Val)
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)
NM_005236.3(ERCC4):c.2017+19del
NM_005236.3(ERCC4):c.2018-19A>T
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln) rs2141619663
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=)
NM_005236.3(ERCC4):c.207+13T>A rs759023704
NM_005236.3(ERCC4):c.207+13T>C rs759023704
NM_005236.3(ERCC4):c.207+16C>G
NM_005236.3(ERCC4):c.207+19G>T
NM_005236.3(ERCC4):c.207+5G>C rs766355378
NM_005236.3(ERCC4):c.207+6G>T rs2141937518
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
NM_005236.3(ERCC4):c.208-19C>G
NM_005236.3(ERCC4):c.208-3T>C rs773956647
NM_005236.3(ERCC4):c.208-3T>G
NM_005236.3(ERCC4):c.208-6A>G rs1596617926
NM_005236.3(ERCC4):c.208-7G>T
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=)
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val) rs774900622
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val) rs2032542117
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn) rs1442567731
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr) rs2141619950
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu) rs2141939855
NM_005236.3(ERCC4):c.2164A>G (p.Met722Val) rs754771000
NM_005236.3(ERCC4):c.2169C>T (p.Cys723=) rs2020959
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.3(ERCC4):c.2187C>T (p.Ile729=)
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp) rs2032546331
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=)
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=) rs1193180379
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val) rs756050702
NM_005236.3(ERCC4):c.2249G>A (p.Arg750His) rs748870665
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
NM_005236.3(ERCC4):c.22C>A (p.Arg8=) rs774510191
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter) rs774510191
NM_005236.3(ERCC4):c.2307C>T (p.Leu769=) rs765321722
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser) rs2032550979
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=)
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu) rs1303709169
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=) rs111613748
NM_005236.3(ERCC4):c.2403C>T (p.Leu801=)
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=) rs1031792719
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val) rs765253522
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=) rs1417783312
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe) rs2141939932
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)
NM_005236.3(ERCC4):c.2535T>C (p.Asn845=)
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
NM_005236.3(ERCC4):c.2574G>A (p.Val858=) rs753126294
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr) rs2032559742
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg) rs368064765
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)
NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met) rs759042927
NM_005236.3(ERCC4):c.2619C>T (p.Ile873=) rs759042927
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr) rs2032561804
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val) rs766946690
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)
NM_005236.3(ERCC4):c.2635C>T (p.Leu879=)
NM_005236.3(ERCC4):c.2640A>G (p.Ser880=)
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
NM_005236.3(ERCC4):c.2670T>C (p.Asn890=)
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr) rs2141621448
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=)
NM_005236.3(ERCC4):c.2697T>C (p.Asp899=)
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro) rs1214498950
NM_005236.3(ERCC4):c.2706C>T (p.His902=)
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
NM_005236.3(ERCC4):c.2724C>G (p.Val908=)
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg) rs2032565777
NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)
NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)
NM_005236.3(ERCC4):c.303C>T (p.Tyr101=)
NM_005236.3(ERCC4):c.306A>G (p.Thr102=)
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)
NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)
NM_005236.3(ERCC4):c.327G>A (p.Ala109=)
NM_005236.3(ERCC4):c.336G>A (p.Arg112=)
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
NM_005236.3(ERCC4):c.355T>C (p.Leu119=)
NM_005236.3(ERCC4):c.363T>C (p.Asp121=)
NM_005236.3(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser) rs374243778
NM_005236.3(ERCC4):c.381A>G (p.Leu127=)
NM_005236.3(ERCC4):c.388+13A>G rs2078004740
NM_005236.3(ERCC4):c.388+15T>C
NM_005236.3(ERCC4):c.388+20_388+25del
NM_005236.3(ERCC4):c.389-5C>A
NM_005236.3(ERCC4):c.389-8C>G rs1325456652
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=)
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys) rs772606808
NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
NM_005236.3(ERCC4):c.412A>C (p.Arg138=)
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.3(ERCC4):c.420C>T (p.Ile140=) rs138724289
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
NM_005236.3(ERCC4):c.42G>A (p.Pro14=) rs2141936987
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
NM_005236.3(ERCC4):c.43C>T (p.Leu15=)
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys) rs1307031587
NM_005236.3(ERCC4):c.458G>A (p.Arg153His)
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser) rs181993439
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu) rs2032078220
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp) rs2032078374
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln) rs373789508
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005236.3(ERCC4):c.514G>C (p.Asp172His) rs1405781900
NM_005236.3(ERCC4):c.520G>A (p.Gly174Ser)
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
NM_005236.3(ERCC4):c.534G>T (p.Val178=) rs957009045
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
NM_005236.3(ERCC4):c.555T>C (p.Leu185=) rs113129434
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) rs1419167361
NM_005236.3(ERCC4):c.561G>A (p.Val187=)
NM_005236.3(ERCC4):c.576G>C (p.Leu192=) rs2141944936
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005236.3(ERCC4):c.585-18A>C
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter) rs1355878901
NM_005236.3(ERCC4):c.591T>C (p.His197=)
NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter) rs2141946068
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val) rs2141946160
NM_005236.3(ERCC4):c.681T>G (p.Thr227=)
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_005236.3(ERCC4):c.68del (p.Val23fs)
NM_005236.3(ERCC4):c.705A>G (p.Ala235=) rs2032105533
NM_005236.3(ERCC4):c.711A>G (p.Leu237=)
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu) rs2032105702
NM_005236.3(ERCC4):c.730A>C (p.Asn244His)
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn) rs2032106630
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser) rs962536419
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu) rs1463126902
NM_005236.3(ERCC4):c.792+7T>C
NM_005236.3(ERCC4):c.793-17T>C rs2141948343
NM_005236.3(ERCC4):c.793-18A>G
NM_005236.3(ERCC4):c.793-2A>G rs2032155264
NM_005236.3(ERCC4):c.800G>A (p.Arg267His) rs143479220
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu) rs143479220
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)
NM_005236.3(ERCC4):c.816T>A (p.Pro272=) rs2141948404
NM_005236.3(ERCC4):c.81C>T (p.Leu27=)
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr) rs2141948413
NM_005236.3(ERCC4):c.837C>G (p.Ala279=) rs2032156289
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
NM_005236.3(ERCC4):c.846A>G (p.Lys282=)
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met) rs1237587281
NM_005236.3(ERCC4):c.871T>C (p.Leu291=)
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn) rs778480216
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys) rs996851583
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser) rs772385411
NM_005236.3(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly) rs773938568
NM_005236.3(ERCC4):c.96A>G (p.Leu32=)
NM_005236.3(ERCC4):c.973+17C>T
NM_005236.3(ERCC4):c.973+20A>G
NM_005236.3(ERCC4):c.973+7G>A rs1216362714
NM_005236.3(ERCC4):c.974-20_974-16del rs2141949732
NM_005236.3(ERCC4):c.974-7_974-6inv
NM_005236.3(ERCC4):c.974-8C>T rs1567245872
NM_005236.3(ERCC4):c.981G>A (p.Leu327=)
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)
NM_005236.3(ERCC4):c.9A>C (p.Ser3=)
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=) rs2148589412
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) rs2065417308
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His) rs2148589382
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)
NM_005334.3(HCFC1):c.1084+17C>T
NM_005334.3(HCFC1):c.1084+18G>A
NM_005334.3(HCFC1):c.1084+18G>T rs782811477
NM_005334.3(HCFC1):c.1084+20C>T
NM_005334.3(HCFC1):c.1084+7C>A
NM_005334.3(HCFC1):c.1084+9G>A rs1557116426
NM_005334.3(HCFC1):c.1085-12G>C
NM_005334.3(HCFC1):c.1085-12G>T
NM_005334.3(HCFC1):c.1085-17A>G
NM_005334.3(HCFC1):c.1085-20C>T
NM_005334.3(HCFC1):c.1085-6C>T
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)
NM_005334.3(HCFC1):c.111C>A (p.Arg37=)
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met) rs782132752
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu)
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)
NM_005334.3(HCFC1):c.1251C>T (p.Val417=) rs1557116313
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)
NM_005334.3(HCFC1):c.129G>A (p.Glu43=)
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met) rs2065413556
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val) rs868948937
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1444+10G>A
NM_005334.3(HCFC1):c.1444+14C>T
NM_005334.3(HCFC1):c.1444+18G>A
NM_005334.3(HCFC1):c.1445-11T>C
NM_005334.3(HCFC1):c.1445-17G>T
NM_005334.3(HCFC1):c.1445-20C>G
NM_005334.3(HCFC1):c.1445-7T>C
NM_005334.3(HCFC1):c.1445-8C>G
NM_005334.3(HCFC1):c.1445-8C>T
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
NM_005334.3(HCFC1):c.1605+11G>A rs2148586621
NM_005334.3(HCFC1):c.1605+11G>T
NM_005334.3(HCFC1):c.1605+18G>A
NM_005334.3(HCFC1):c.1606-11G>T
NM_005334.3(HCFC1):c.1606-14C>T
NM_005334.3(HCFC1):c.1606-15C>T
NM_005334.3(HCFC1):c.1606-16C>T
NM_005334.3(HCFC1):c.1606-17G>A
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) rs1557115869
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=) rs2148584844
NM_005334.3(HCFC1):c.171C>T (p.Asp57=)
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=) rs2148584612
NM_005334.3(HCFC1):c.1803+13del
NM_005334.3(HCFC1):c.1803+15G>A
NM_005334.3(HCFC1):c.1804-14T>C
NM_005334.3(HCFC1):c.1804-7C>T
NM_005334.3(HCFC1):c.1804-9C>G
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
NM_005334.3(HCFC1):c.193+12G>A
NM_005334.3(HCFC1):c.193+15C>T
NM_005334.3(HCFC1):c.193+15dup
NM_005334.3(HCFC1):c.193+16G>T
NM_005334.3(HCFC1):c.193+7G>A
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
NM_005334.3(HCFC1):c.194-19G>C
NM_005334.3(HCFC1):c.194-20T>C
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
NM_005334.3(HCFC1):c.2028+17G>A
NM_005334.3(HCFC1):c.2028+18C>T
NM_005334.3(HCFC1):c.2028+6T>C
NM_005334.3(HCFC1):c.2029-12C>T
NM_005334.3(HCFC1):c.2029-12del
NM_005334.3(HCFC1):c.2029-14C>T
NM_005334.3(HCFC1):c.2029-18C>T
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)
NM_005334.3(HCFC1):c.2133+10C>T
NM_005334.3(HCFC1):c.2133+11dup
NM_005334.3(HCFC1):c.2133+20A>C
NM_005334.3(HCFC1):c.2134-14C>T
NM_005334.3(HCFC1):c.2134-18C>T
NM_005334.3(HCFC1):c.2134-20C>T
NM_005334.3(HCFC1):c.2134-9C>T
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.219C>T (p.Ala73=)
NM_005334.3(HCFC1):c.21C>T (p.Pro7=)
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val) rs2065388763
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)
NM_005334.3(HCFC1):c.2353+15C>T
NM_005334.3(HCFC1):c.2353+16G>A
NM_005334.3(HCFC1):c.2353+19A>G
NM_005334.3(HCFC1):c.2353+20T>C
NM_005334.3(HCFC1):c.2353+6G>A
NM_005334.3(HCFC1):c.2354-10_2354-9del
NM_005334.3(HCFC1):c.2354-14A>G
NM_005334.3(HCFC1):c.2354-15C>T
NM_005334.3(HCFC1):c.2354-16C>G
NM_005334.3(HCFC1):c.2354-20G>A
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
NM_005334.3(HCFC1):c.237C>A (p.Pro79=) rs782481466
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)
NM_005334.3(HCFC1):c.2496+12C>T
NM_005334.3(HCFC1):c.2496+14A>G
NM_005334.3(HCFC1):c.2496+17C>T
NM_005334.3(HCFC1):c.2496+18G>A
NM_005334.3(HCFC1):c.2496+20C>G
NM_005334.3(HCFC1):c.2496+7C>T
NM_005334.3(HCFC1):c.2497-16T>C
NM_005334.3(HCFC1):c.2497-17_2497-16del
NM_005334.3(HCFC1):c.2497-9G>T
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) rs1131691855
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)
NM_005334.3(HCFC1):c.2547G>T (p.Val849=)
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
NM_005334.3(HCFC1):c.2586C>T (p.Val862=)
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
NM_005334.3(HCFC1):c.2635+10C>T
NM_005334.3(HCFC1):c.2635+12T>A
NM_005334.3(HCFC1):c.2635+15G>A
NM_005334.3(HCFC1):c.2635+9C>T
NM_005334.3(HCFC1):c.2636-10T>A
NM_005334.3(HCFC1):c.2636-14C>T
NM_005334.3(HCFC1):c.2636-15C>A
NM_005334.3(HCFC1):c.2636-18T>A
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile) rs949004802
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp)
NM_005334.3(HCFC1):c.2700C>T (p.His900=)
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
NM_005334.3(HCFC1):c.2856+17G>A
NM_005334.3(HCFC1):c.2856+8A>G
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
NM_005334.3(HCFC1):c.2857-14G>C
NM_005334.3(HCFC1):c.2857-18C>T
NM_005334.3(HCFC1):c.2857-20C>T rs2148575650
NM_005334.3(HCFC1):c.2857-23CTC[2] rs886044899
NM_005334.3(HCFC1):c.2857-8C>T
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=) rs944235194
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg)
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu) rs2065360852
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr) rs2065360777
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu)
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser)
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
NM_005334.3(HCFC1):c.342+11C>T
NM_005334.3(HCFC1):c.342+9G>A
NM_005334.3(HCFC1):c.343-10G>A
NM_005334.3(HCFC1):c.343-7T>G
NM_005334.3(HCFC1):c.343-8T>C
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.345G>A (p.Ala115=)
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=) rs1053320929
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=) rs782167598
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys)
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg)
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) rs1557114069
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) rs2065355018
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly)
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu)
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile) rs2065352881
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg) rs2148571129
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
NM_005334.3(HCFC1):c.411A>G (p.Arg137=)
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr)
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=) rs782136932
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)
NM_005334.3(HCFC1):c.417G>A (p.Gly139=)
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg) rs2148569217
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) rs2065343736
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=) rs2148568710
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
NM_005334.3(HCFC1):c.4333+9A>G
NM_005334.3(HCFC1):c.4334-10G>A
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC
NM_005334.3(HCFC1):c.4334-11C>G
NM_005334.3(HCFC1):c.4334-13G>A
NM_005334.3(HCFC1):c.4334-15C>T
NM_005334.3(HCFC1):c.4334-16C>T
NM_005334.3(HCFC1):c.4334-18_4334-8dup
NM_005334.3(HCFC1):c.4334-20C>A
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
NM_005334.3(HCFC1):c.435G>C (p.Val145=)
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) rs2065338418
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
NM_005334.3(HCFC1):c.4497+16G>A
NM_005334.3(HCFC1):c.4497+16G>T
NM_005334.3(HCFC1):c.4497+18C>T
NM_005334.3(HCFC1):c.4497+19G>A
NM_005334.3(HCFC1):c.4497+9C>T
NM_005334.3(HCFC1):c.4498-12G>T
NM_005334.3(HCFC1):c.4498-20C>T
NM_005334.3(HCFC1):c.4498-6C>T
NM_005334.3(HCFC1):c.4498-7C>T
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu) rs1277991321
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
NM_005334.3(HCFC1):c.453G>C (p.Leu151=)
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=) rs2065328379
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
NM_005334.3(HCFC1):c.465G>A (p.Leu155=)
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu)
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) rs1603294733
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met) rs2148563099
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=) rs1557112897
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
NM_005334.3(HCFC1):c.4942+17C>A
NM_005334.3(HCFC1):c.4942+17C>T
NM_005334.3(HCFC1):c.4942+20T>C
NM_005334.3(HCFC1):c.4942+20T>G
NM_005334.3(HCFC1):c.4942+7G>A
NM_005334.3(HCFC1):c.4943-11C>A
NM_005334.3(HCFC1):c.4943-14C>T
NM_005334.3(HCFC1):c.4943-16C>T
NM_005334.3(HCFC1):c.4943-18C>A
NM_005334.3(HCFC1):c.4943-18C>T
NM_005334.3(HCFC1):c.4943-20T>C
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
NM_005334.3(HCFC1):c.503+10G>A
NM_005334.3(HCFC1):c.503+8T>G
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
NM_005334.3(HCFC1):c.504-13C>A
NM_005334.3(HCFC1):c.504-16G>C
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) rs2065317868
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=) rs2148561246
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup) rs2148561074
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)
NM_005334.3(HCFC1):c.5130C>T (p.His1710=)
NM_005334.3(HCFC1):c.513T>C (p.Asn171=)
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser) rs1376359622
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
NM_005334.3(HCFC1):c.5260+16C>T
NM_005334.3(HCFC1):c.5260+17G>A
NM_005334.3(HCFC1):c.5260+7G>A
NM_005334.3(HCFC1):c.5261-12C>T
NM_005334.3(HCFC1):c.5261-12_5261-10del
NM_005334.3(HCFC1):c.5261-15C>T
NM_005334.3(HCFC1):c.5261-4C>T
NM_005334.3(HCFC1):c.5261-5C>T
NM_005334.3(HCFC1):c.5261-8C>G
NM_005334.3(HCFC1):c.5261-9_5261-6del
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)
NM_005334.3(HCFC1):c.526C>T (p.Leu176=)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) rs782384589
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=) rs2148560027
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) rs1057521778
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=) rs1220039024
NM_005334.3(HCFC1):c.5379+10del
NM_005334.3(HCFC1):c.5379+15T>C
NM_005334.3(HCFC1):c.5379+7C>T
NM_005334.3(HCFC1):c.5380-13T>C
NM_005334.3(HCFC1):c.5380-15G>A
NM_005334.3(HCFC1):c.5380-16C>T
NM_005334.3(HCFC1):c.5380-19C>T
NM_005334.3(HCFC1):c.5380-20G>A
NM_005334.3(HCFC1):c.5380-7C>T
NM_005334.3(HCFC1):c.5380-8T>A
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)
NM_005334.3(HCFC1):c.543C>T (p.Gly181=)
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) rs2065309711
NM_005334.3(HCFC1):c.5481C>T (p.His1827=)
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)
NM_005334.3(HCFC1):c.5517+10C>G
NM_005334.3(HCFC1):c.5517+20G>C
NM_005334.3(HCFC1):c.5518-10C>T
NM_005334.3(HCFC1):c.5518-18C>T
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) rs2065303644
NM_005334.3(HCFC1):c.5703+11C>T
NM_005334.3(HCFC1):c.5703+14T>G
NM_005334.3(HCFC1):c.5703+18del
NM_005334.3(HCFC1):c.5703+19T>C
NM_005334.3(HCFC1):c.5704-11C>G
NM_005334.3(HCFC1):c.5704-11C>T
NM_005334.3(HCFC1):c.5704-13C>T
NM_005334.3(HCFC1):c.5704-14C>A
NM_005334.3(HCFC1):c.5704-15C>A
NM_005334.3(HCFC1):c.5704-20_5704-18del
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=) rs782090098
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu)
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=) rs1000069168
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
NM_005334.3(HCFC1):c.588A>G (p.Leu196=)
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)
NM_005334.3(HCFC1):c.6004+10C>G
NM_005334.3(HCFC1):c.6004+13C>T
NM_005334.3(HCFC1):c.6004+14G>T
NM_005334.3(HCFC1):c.6004+16G>A
NM_005334.3(HCFC1):c.6005-11G>A
NM_005334.3(HCFC1):c.6005-12C>G rs181583112
NM_005334.3(HCFC1):c.6005-12C>T rs181583112
NM_005334.3(HCFC1):c.6005-13C>A
NM_005334.3(HCFC1):c.6005-13C>T
NM_005334.3(HCFC1):c.6005-16C>T
NM_005334.3(HCFC1):c.6005-5T>A
NM_005334.3(HCFC1):c.6005-6T>C
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=) rs1715955651
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)
NM_005334.3(HCFC1):c.6068+11A>G
NM_005334.3(HCFC1):c.6068+13C>G rs2148553916
NM_005334.3(HCFC1):c.6068+14C>T
NM_005334.3(HCFC1):c.6068+15C>G
NM_005334.3(HCFC1):c.6068+19T>C
NM_005334.3(HCFC1):c.6068+20C>T
NM_005334.3(HCFC1):c.6069-20T>C
NM_005334.3(HCFC1):c.6069-8C>T
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) rs2148553327
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
NM_005334.3(HCFC1):c.609T>C (p.His203=)
NM_005334.3(HCFC1):c.615C>T (p.Ala205=)
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
NM_005334.3(HCFC1):c.636C>T (p.Asp212=)
NM_005334.3(HCFC1):c.648C>T (p.Ser216=)
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)
NM_005334.3(HCFC1):c.666C>T (p.Gly222=)
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005334.3(HCFC1):c.69G>A (p.Val23=)
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
NM_005334.3(HCFC1):c.712+11T>A
NM_005334.3(HCFC1):c.712+13G>T
NM_005334.3(HCFC1):c.712+6C>T rs1165322624
NM_005334.3(HCFC1):c.712+9GGT[3]
NM_005334.3(HCFC1):c.713-10CT[2]
NM_005334.3(HCFC1):c.713-12G>A
NM_005334.3(HCFC1):c.713-17C>T
NM_005334.3(HCFC1):c.713-18C>T
NM_005334.3(HCFC1):c.714C>T (p.Asp238=)
NM_005334.3(HCFC1):c.723G>A (p.Thr241=)
NM_005334.3(HCFC1):c.735C>G (p.Pro245=)
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg) rs2065524568
NM_005334.3(HCFC1):c.741C>T (p.Leu247=)
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
NM_005334.3(HCFC1):c.797+13T>A
NM_005334.3(HCFC1):c.797+15A>C
NM_005334.3(HCFC1):c.797+20C>T
NM_005334.3(HCFC1):c.797+9C>G
NM_005334.3(HCFC1):c.797+9C>T
NM_005334.3(HCFC1):c.798-11C>T
NM_005334.3(HCFC1):c.798-11_798-9del
NM_005334.3(HCFC1):c.798-15C>T
NM_005334.3(HCFC1):c.798-5C>T
NM_005334.3(HCFC1):c.798-9C>T
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
NM_005334.3(HCFC1):c.904+10C>T
NM_005334.3(HCFC1):c.904+13C>T
NM_005334.3(HCFC1):c.904+16G>A
NM_005334.3(HCFC1):c.904+20C>T
NM_005334.3(HCFC1):c.905-9C>T
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
NM_005334.3(HCFC1):c.942G>A (p.Leu314=)
NM_005334.3(HCFC1):c.948C>T (p.Asp316=)
NM_005334.3(HCFC1):c.954C>A (p.Ile318=)
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
NM_005334.3(HCFC1):c.99C>T (p.Arg33=)
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu) rs946075316
NM_005431.2(XRCC2):c.756_758del (p.Gln252_Phe253delinsHis)
NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser) rs771671971
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu) rs1057517674
NM_006363.5(SEC23B):c.-283C>T rs886056522
NM_006363.5(SEC23B):c.-301G>A rs886056521
NM_006363.5(SEC23B):c.-94C>G rs886056523
NM_006363.6(SEC23B):c.*178C>T rs2060486772
NM_006363.6(SEC23B):c.*292T>G rs886056526
NM_006363.6(SEC23B):c.*308A>G rs2060487651
NM_006363.6(SEC23B):c.*318dup rs397793825
NM_006363.6(SEC23B):c.*493A>G rs886056527
NM_006363.6(SEC23B):c.*9_*10del rs142180765
NM_006363.6(SEC23B):c.-14-1G>A rs967988810
NM_006363.6(SEC23B):c.-8T>C rs766083236
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp)
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly) rs2060144762
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
NM_006363.6(SEC23B):c.1054T>C (p.Cys352Arg)
NM_006363.6(SEC23B):c.105T>C (p.Val35=)
NM_006363.6(SEC23B):c.1068A>G (p.Gln356=)
NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)
NM_006363.6(SEC23B):c.1078T>C (p.Leu360=)
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006363.6(SEC23B):c.1107T>A (p.Thr369=)
NM_006363.6(SEC23B):c.1109+10C>G
NM_006363.6(SEC23B):c.1109+11A>C
NM_006363.6(SEC23B):c.1109+19C>A
NM_006363.6(SEC23B):c.1109+1G>C
NM_006363.6(SEC23B):c.1109+7T>C
NM_006363.6(SEC23B):c.1110-13dup
NM_006363.6(SEC23B):c.1110-20A>T
NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys)
NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe)
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr)
NM_006363.6(SEC23B):c.1179T>C (p.Thr393=)
NM_006363.6(SEC23B):c.117T>C (p.Ala39=)
NM_006363.6(SEC23B):c.1191T>C (p.Asn397=)
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter) rs1403456625
NM_006363.6(SEC23B):c.1217C>T (p.Ala406Val)
NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)
NM_006363.6(SEC23B):c.1227C>T (p.Asp409=)
NM_006363.6(SEC23B):c.1233+10A>C
NM_006363.6(SEC23B):c.1233+12T>A
NM_006363.6(SEC23B):c.1233+15T>A
NM_006363.6(SEC23B):c.1233+25dup rs57738665
NM_006363.6(SEC23B):c.1233+8_1233+9insG
NM_006363.6(SEC23B):c.1233_1233+1dup
NM_006363.6(SEC23B):c.1234-13A>C
NM_006363.6(SEC23B):c.1234-13A>G
NM_006363.6(SEC23B):c.1234-13A>T
NM_006363.6(SEC23B):c.1234-14_1234-13del rs765849514
NM_006363.6(SEC23B):c.1234-16C>A
NM_006363.6(SEC23B):c.1234-18G>A
NM_006363.6(SEC23B):c.1234-20C>T
NM_006363.6(SEC23B):c.1242G>A (p.Arg414=)
NM_006363.6(SEC23B):c.1243del (p.Glu415fs)
NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly)
NM_006363.6(SEC23B):c.1275C>T (p.Cys425=)
NM_006363.6(SEC23B):c.1314+12A>T
NM_006363.6(SEC23B):c.1314+16C>T
NM_006363.6(SEC23B):c.1314+18A>G
NM_006363.6(SEC23B):c.1314+1G>A
NM_006363.6(SEC23B):c.1314_1314+10del
NM_006363.6(SEC23B):c.1315-16C>T
NM_006363.6(SEC23B):c.1315-4C>G
NM_006363.6(SEC23B):c.1315-5C>T
NM_006363.6(SEC23B):c.1315-6C>T
NM_006363.6(SEC23B):c.1315-7C>T
NM_006363.6(SEC23B):c.1315-8A>G
NM_006363.6(SEC23B):c.1326T>C (p.Val442=)
NM_006363.6(SEC23B):c.1332C>T (p.Gly444=)
NM_006363.6(SEC23B):c.1335G>T (p.Thr445=)
NM_006363.6(SEC23B):c.1341G>A (p.Gln447=)
NM_006363.6(SEC23B):c.1347A>G (p.Lys449=)
NM_006363.6(SEC23B):c.1374A>C (p.Thr458=)
NM_006363.6(SEC23B):c.1401T>C (p.Asn467=)
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)
NM_006363.6(SEC23B):c.1404+17C>T
NM_006363.6(SEC23B):c.1404+20A>G
NM_006363.6(SEC23B):c.1404+5G>A rs1555789463
NM_006363.6(SEC23B):c.1405-15C>T
NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu) rs752548887
NM_006363.6(SEC23B):c.1416G>A (p.Pro472=)
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=) rs748683808
NM_006363.6(SEC23B):c.1422C>T (p.Pro474=)
NM_006363.6(SEC23B):c.1425A>G (p.Gln475=)
NM_006363.6(SEC23B):c.1443C>T (p.Ile481=)
NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)
NM_006363.6(SEC23B):c.1455G>C (p.Thr485=)
NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu)
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
NM_006363.6(SEC23B):c.1490G>T (p.Arg497Leu)
NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr)
NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)
NM_006363.6(SEC23B):c.1511+18C>T
NM_006363.6(SEC23B):c.1511+21_1511+24del
NM_006363.6(SEC23B):c.1511+2_1511+5del
NM_006363.6(SEC23B):c.1512-11G>A
NM_006363.6(SEC23B):c.1512-16A>G
NM_006363.6(SEC23B):c.1512-19C>A
NM_006363.6(SEC23B):c.1512-5G>A
NM_006363.6(SEC23B):c.1512-7T>C
NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)
NM_006363.6(SEC23B):c.1536C>A (p.Leu512=)
NM_006363.6(SEC23B):c.1539G>A (p.Arg513=)
NM_006363.6(SEC23B):c.153A>T (p.Leu51=)
NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu)
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
NM_006363.6(SEC23B):c.1596G>C (p.Gly532=)
NM_006363.6(SEC23B):c.1607C>A (p.Ala536Glu) rs535355543
NM_006363.6(SEC23B):c.1608G>A (p.Ala536=)
NM_006363.6(SEC23B):c.1611G>A (p.Glu537=)
NM_006363.6(SEC23B):c.1626C>G (p.Pro542=)
NM_006363.6(SEC23B):c.1626C>T (p.Pro542=)
NM_006363.6(SEC23B):c.162A>G (p.Val54=)
NM_006363.6(SEC23B):c.1632G>C (p.Val544=)
NM_006363.6(SEC23B):c.1637G>T (p.Arg546Leu)
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=) rs138623580
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
NM_006363.6(SEC23B):c.164A>C (p.Gln55Pro)
NM_006363.6(SEC23B):c.1653A>G (p.Gln551=)
NM_006363.6(SEC23B):c.1656C>T (p.Leu552=)
NM_006363.6(SEC23B):c.165A>G (p.Gln55=)
NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
NM_006363.6(SEC23B):c.1665+14A>G
NM_006363.6(SEC23B):c.1665+17G>A
NM_006363.6(SEC23B):c.1665+20A>T
NM_006363.6(SEC23B):c.1665+4A>G
NM_006363.6(SEC23B):c.1666-16T>G
NM_006363.6(SEC23B):c.1666-3T>C
NM_006363.6(SEC23B):c.1677T>C (p.Phe559=)
NM_006363.6(SEC23B):c.1680A>G (p.Gly560=)
NM_006363.6(SEC23B):c.1686T>C (p.Tyr562=)
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
NM_006363.6(SEC23B):c.1713G>A (p.Arg571=)
NM_006363.6(SEC23B):c.1719A>G (p.Ser573=)
NM_006363.6(SEC23B):c.1734A>G (p.Leu578=)
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)
NM_006363.6(SEC23B):c.1743+20A>G
NM_006363.6(SEC23B):c.1744-10G>C
NM_006363.6(SEC23B):c.1744-14del
NM_006363.6(SEC23B):c.1744-16T>C
NM_006363.6(SEC23B):c.1744-17G>A
NM_006363.6(SEC23B):c.1744-18C>T
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)
NM_006363.6(SEC23B):c.1764A>G (p.Arg588=)
NM_006363.6(SEC23B):c.1803G>A (p.Glu601=)
NM_006363.6(SEC23B):c.1806G>A (p.Ser602=)
NM_006363.6(SEC23B):c.1816A>C (p.Arg606=)
NM_006363.6(SEC23B):c.1818A>G (p.Arg606=)
NM_006363.6(SEC23B):c.1831del (p.Arg611fs)
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met)
NM_006363.6(SEC23B):c.1866G>A (p.Gln622=)
NM_006363.6(SEC23B):c.1875C>G (p.Leu625=)
NM_006363.6(SEC23B):c.1881T>A (p.Ser627=)
NM_006363.6(SEC23B):c.1905+10dup
NM_006363.6(SEC23B):c.1905+12C>T
NM_006363.6(SEC23B):c.1905+16A>G
NM_006363.6(SEC23B):c.1905+1G>A
NM_006363.6(SEC23B):c.1905+8T>C
NM_006363.6(SEC23B):c.1905+8T>G
NM_006363.6(SEC23B):c.1905+9C>A
NM_006363.6(SEC23B):c.1906-11T>C
NM_006363.6(SEC23B):c.1906-12_1906-9del
NM_006363.6(SEC23B):c.1906-18C>G
NM_006363.6(SEC23B):c.1906-18C>T
NM_006363.6(SEC23B):c.1906-18_1906-14del
NM_006363.6(SEC23B):c.1906-19TC[2]
NM_006363.6(SEC23B):c.1906-19TC[3]
NM_006363.6(SEC23B):c.1906-7T>C
NM_006363.6(SEC23B):c.1906-8_1906-7del
NM_006363.6(SEC23B):c.1909del (p.Val637fs)
NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)
NM_006363.6(SEC23B):c.195T>C (p.Thr65=)
NM_006363.6(SEC23B):c.1962T>G (p.Thr654=)
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter)
NM_006363.6(SEC23B):c.1992+14ATTA[2]
NM_006363.6(SEC23B):c.1992+15_1992+17del
NM_006363.6(SEC23B):c.1992+17A>G
NM_006363.6(SEC23B):c.1992+8G>A
NM_006363.6(SEC23B):c.1992+8_1992+10del
NM_006363.6(SEC23B):c.1993-18T>C
NM_006363.6(SEC23B):c.1993-20G>A
NM_006363.6(SEC23B):c.1993-6G>C
NM_006363.6(SEC23B):c.1993-7T>C
NM_006363.6(SEC23B):c.2001C>T (p.Ala667=)
NM_006363.6(SEC23B):c.2011A>G (p.Lys671Glu)
NM_006363.6(SEC23B):c.202G>A (p.Ala68Thr) rs2059977778
NM_006363.6(SEC23B):c.2034C>T (p.Pro678=)
NM_006363.6(SEC23B):c.2040T>C (p.Tyr680=)
NM_006363.6(SEC23B):c.2055C>T (p.His685=)
NM_006363.6(SEC23B):c.2073G>A (p.Leu691=)
NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe)
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
NM_006363.6(SEC23B):c.211A>C (p.Asn71His) rs2059977897
NM_006363.6(SEC23B):c.2122A>G (p.Ile708Val)
NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)
NM_006363.6(SEC23B):c.2139A>T (p.Gly713=)
NM_006363.6(SEC23B):c.2148+10C>T
NM_006363.6(SEC23B):c.2148+17C>G
NM_006363.6(SEC23B):c.2148+7G>A
NM_006363.6(SEC23B):c.2149-12T>C
NM_006363.6(SEC23B):c.2149-13G>C
NM_006363.6(SEC23B):c.2149-19G>T
NM_006363.6(SEC23B):c.2149-21TTG[4] rs746737770
NM_006363.6(SEC23B):c.2151T>G (p.Ala717=)
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)
NM_006363.6(SEC23B):c.2166C>G (p.Ser722=)
NM_006363.6(SEC23B):c.216A>G (p.Pro72=)
NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)
NM_006363.6(SEC23B):c.2178A>G (p.Pro726=)
NM_006363.6(SEC23B):c.2181T>C (p.Ser727=)
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs)
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=) rs1600281875
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)
NM_006363.6(SEC23B):c.2205T>C (p.Ala735=)
NM_006363.6(SEC23B):c.221+10C>G
NM_006363.6(SEC23B):c.221+163A>G
NM_006363.6(SEC23B):c.221+1G>A
NM_006363.6(SEC23B):c.221+31A>T
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
NM_006363.6(SEC23B):c.2214+10C>A
NM_006363.6(SEC23B):c.2214+13_2214+14del
NM_006363.6(SEC23B):c.2214+14del
NM_006363.6(SEC23B):c.2214+15G>A
NM_006363.6(SEC23B):c.2214+15G>T
NM_006363.6(SEC23B):c.2215-18T>C
NM_006363.6(SEC23B):c.2215-19C>T
NM_006363.6(SEC23B):c.2215-9A>G
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
NM_006363.6(SEC23B):c.222-15T>A
NM_006363.6(SEC23B):c.222-17_222-15del
NM_006363.6(SEC23B):c.222-19_222-17del
NM_006363.6(SEC23B):c.222-4A>G
NM_006363.6(SEC23B):c.222-7C>G
NM_006363.6(SEC23B):c.2220T>C (p.Thr740=)
NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn) rs1600288964
NM_006363.6(SEC23B):c.2241T>C (p.Asp747=)
NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn) rs2122200225
NM_006363.6(SEC23B):c.2242G>C (p.Asp748His)
NM_006363.6(SEC23B):c.2244T>C (p.Asp748=) rs748290215
NM_006363.6(SEC23B):c.2247T>C (p.Val749=)
NM_006363.6(SEC23B):c.2250C>T (p.Ser750=)
NM_006363.6(SEC23B):c.225G>A (p.Gln75=)
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
NM_006363.6(SEC23B):c.2294G>C (p.Ser765Thr)
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
NM_006363.6(SEC23B):c.251C>T (p.Ala84Val)
NM_006363.6(SEC23B):c.279+13T>A
NM_006363.6(SEC23B):c.279+17T>A
NM_006363.6(SEC23B):c.279+1G>A
NM_006363.6(SEC23B):c.280-10T>C
NM_006363.6(SEC23B):c.280-11C>T
NM_006363.6(SEC23B):c.280-12C>G
NM_006363.6(SEC23B):c.280-12C>T
NM_006363.6(SEC23B):c.280-13T>G
NM_006363.6(SEC23B):c.280-20_280-14del
NM_006363.6(SEC23B):c.280-8_280-6del
NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)
NM_006363.6(SEC23B):c.300C>T (p.Gly100=)
NM_006363.6(SEC23B):c.318A>G (p.Gln106=)
NM_006363.6(SEC23B):c.324C>T (p.Ala108=)
NM_006363.6(SEC23B):c.337del (p.Gln113fs)
NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro)
NM_006363.6(SEC23B):c.357C>T (p.Tyr119=)
NM_006363.6(SEC23B):c.366+11T>C
NM_006363.6(SEC23B):c.366+13T>A
NM_006363.6(SEC23B):c.366+15G>C
NM_006363.6(SEC23B):c.366+17G>A
NM_006363.6(SEC23B):c.366+18C>T
NM_006363.6(SEC23B):c.366+1G>A
NM_006363.6(SEC23B):c.367-1G>T
NM_006363.6(SEC23B):c.367-8G>C
NM_006363.6(SEC23B):c.369A>T (p.Arg123=)
NM_006363.6(SEC23B):c.375T>C (p.Ala125=)
NM_006363.6(SEC23B):c.408C>T (p.Asp136=)
NM_006363.6(SEC23B):c.414C>T (p.Cys138=)
NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr) rs2060116077
NM_006363.6(SEC23B):c.438A>C (p.Ala146=)
NM_006363.6(SEC23B):c.438A>G (p.Ala146=)
NM_006363.6(SEC23B):c.450C>T (p.Ser150=)
NM_006363.6(SEC23B):c.480A>T (p.Pro160=)
NM_006363.6(SEC23B):c.489G>A (p.Leu163=)
NM_006363.6(SEC23B):c.489G>C (p.Leu163=)
NM_006363.6(SEC23B):c.489G>T (p.Leu163=)
NM_006363.6(SEC23B):c.490del (p.Val164fs)
NM_006363.6(SEC23B):c.501C>G (p.Ile167Met)
NM_006363.6(SEC23B):c.528T>C (p.His176=)
NM_006363.6(SEC23B):c.534A>G (p.Leu178=)
NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)
NM_006363.6(SEC23B):c.545del (p.Gly182fs)
NM_006363.6(SEC23B):c.546A>T (p.Gly182=) rs1347919581
NM_006363.6(SEC23B):c.561T>C (p.Tyr187=)
NM_006363.6(SEC23B):c.564C>A (p.Val188=)
NM_006363.6(SEC23B):c.568C>A (p.Arg190=)
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
NM_006363.6(SEC23B):c.573G>A (p.Gly191=)
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.582T>C (p.Asp194=)
NM_006363.6(SEC23B):c.584dup (p.Leu195fs)
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)
NM_006363.6(SEC23B):c.5C>T (p.Ala2Val)
NM_006363.6(SEC23B):c.603+10T>C
NM_006363.6(SEC23B):c.603+12A>G
NM_006363.6(SEC23B):c.604-10T>G
NM_006363.6(SEC23B):c.604-11_604-10insC
NM_006363.6(SEC23B):c.604-19T>G
NM_006363.6(SEC23B):c.604-20T>C
NM_006363.6(SEC23B):c.604-4del
NM_006363.6(SEC23B):c.604-4dup rs750339397
NM_006363.6(SEC23B):c.604-5_604-4dup rs750339397
NM_006363.6(SEC23B):c.604-6T>C
NM_006363.6(SEC23B):c.604-6_604-4del
NM_006363.6(SEC23B):c.606T>C (p.Asp202=)
NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala)
NM_006363.6(SEC23B):c.618G>T (p.Leu206=)
NM_006363.6(SEC23B):c.624G>A (p.Lys208=)
NM_006363.6(SEC23B):c.631A>G (p.Met211Val)
NM_006363.6(SEC23B):c.636C>T (p.Pro212=)
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_006363.6(SEC23B):c.645A>G (p.Gln215=)
NM_006363.6(SEC23B):c.666G>A (p.Gln222=)
NM_006363.6(SEC23B):c.669G>A (p.Glu223=)
NM_006363.6(SEC23B):c.689+14A>T
NM_006363.6(SEC23B):c.689+19G>T
NM_006363.6(SEC23B):c.689+1G>C
NM_006363.6(SEC23B):c.689+1G>T
NM_006363.6(SEC23B):c.689+7G>T
NM_006363.6(SEC23B):c.689+8C>T
NM_006363.6(SEC23B):c.689+9C>A
NM_006363.6(SEC23B):c.690-17C>T
NM_006363.6(SEC23B):c.690-4_690-3dup
NM_006363.6(SEC23B):c.690-7C>G
NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
NM_006363.6(SEC23B):c.708C>A (p.His236Gln) rs748683327
NM_006363.6(SEC23B):c.708C>T (p.His236=)
NM_006363.6(SEC23B):c.712A>G (p.Ile238Val)
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly) rs761034212
NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser)
NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
NM_006363.6(SEC23B):c.791G>A (p.Arg264Gln) rs148239360
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
NM_006363.6(SEC23B):c.820G>A (p.Val274Ile) rs747388303
NM_006363.6(SEC23B):c.834+14T>C rs2148899499
NM_006363.6(SEC23B):c.834+17C>G
NM_006363.6(SEC23B):c.834+17C>T
NM_006363.6(SEC23B):c.835-10G>A
NM_006363.6(SEC23B):c.835-2A>G
NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
NM_006363.6(SEC23B):c.853G>A (p.Gly285Arg)
NM_006363.6(SEC23B):c.85C>T (p.Leu29=) rs886056525
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
NM_006363.6(SEC23B):c.873del (p.Phe291fs)
NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
NM_006363.6(SEC23B):c.912T>A (p.Val304=)
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
NM_006363.6(SEC23B):c.954T>C (p.Ile318=)
NM_006363.6(SEC23B):c.960A>G (p.Lys320=)
NM_006363.6(SEC23B):c.96A>G (p.Thr32=)
NM_006363.6(SEC23B):c.983dup (p.Ala329fs)
NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser) rs143417821
NM_006363.6(SEC23B):c.990C>T (p.Thr330=)
NM_006363.6(SEC23B):c.993+11T>C
NM_006363.6(SEC23B):c.993+14G>A
NM_006363.6(SEC23B):c.993+15G>C
NM_006363.6(SEC23B):c.993+8C>G
NM_006363.6(SEC23B):c.993+8C>T
NM_006363.6(SEC23B):c.994-10C>G
NM_006363.6(SEC23B):c.994-13C>G
NM_006363.6(SEC23B):c.994-189T>A
NM_006363.6(SEC23B):c.994-189T>C
NM_006363.6(SEC23B):c.994-19A>G
NM_006363.6(SEC23B):c.994-20T>A
NM_006363.6(SEC23B):c.9A>G (p.Thr3=)
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) rs755946345
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs) rs1643457017
NM_006516.4(SLC2A1):c.1075-14G>A rs777450540
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala) rs796053259
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met) rs796053260
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser) rs1027810691
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys) rs769722007
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp) rs1570590876
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile) rs2124446216
NM_006516.4(SLC2A1):c.1278+12del rs368437445
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT rs2124446051
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser) rs796053274
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile) rs1216296247
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=) rs1469205406
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg) rs572648977
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp) rs572648977
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr) rs2124445324
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val) rs796053246
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.4(SLC2A1):c.19-2A>G rs796053272
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met) rs1570601100
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=) rs76672402
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu) rs577667739
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=) rs1393465480
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met) rs760130033
NM_006516.4(SLC2A1):c.484C>G (p.Leu162Val)
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) rs1085308009
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro) rs1570592942
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala) rs2124449385
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu) rs771352226
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg) rs2124449313
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val) rs2124449273
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=) rs2124449097
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys) rs1165759782
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=) rs1553156067
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp) rs1451575059
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=) rs1557651193
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del) rs1557645931
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) rs80359822
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His) rs758919432
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His) rs1411827478
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=) rs1553156049
NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp) rs864309514
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly) rs1425773776
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met) rs780528770
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=) rs780528770
NM_006516.4(SLC2A1):c.972+20C>G rs781545555
NM_006516.4(SLC2A1):c.972+7C>G rs1553155998
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006563.5(KLF1):c.*291A>G rs531279487
NM_006563.5(KLF1):c.1012C>T (p.Pro338Ser) rs387907599
NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser) rs1970419176
NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys) rs1232742005
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter) rs2145927881
NM_006563.5(KLF1):c.676G>A (p.Ala226Thr) rs1970432271
NM_006563.5(KLF1):c.862A>T (p.Lys288Ter) rs267607202
NM_006563.5(KLF1):c.892G>C (p.Ala298Pro) rs387907598
NM_006563.5(KLF1):c.913+1G>A rs483352840
NM_006563.5(KLF1):c.973G>A (p.Glu325Lys) rs267607201
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_006947.4(SRP72):c.*1227_*1232del rs886059502
NM_006947.4(SRP72):c.*125GT[1] rs886059498
NM_006947.4(SRP72):c.*142A>G rs878964615
NM_006947.4(SRP72):c.*1769T>G rs886059504
NM_006947.4(SRP72):c.*407T>C rs541665813
NM_006947.4(SRP72):c.*606AT[10] rs201131530
NM_006947.4(SRP72):c.*622_*649del rs59791697
NM_006947.4(SRP72):c.*633T>C rs867120149
NM_006947.4(SRP72):c.*637TA[11] rs35852754
NM_006947.4(SRP72):c.*637TA[7] rs35852754
NM_006947.4(SRP72):c.*637TA[9] rs35852754
NM_006947.4(SRP72):c.-10C>T
NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs) rs587776907
NM_006947.4(SRP72):c.1650T>C (p.Asp550=) rs202073540
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu)
NM_006947.4(SRP72):c.1938C>G (p.His646Gln) rs1721270142
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp) rs17524437
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu) rs139502866
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu) rs760960779
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser) rs781230154
NM_006947.4(SRP72):c.574C>G (p.Leu192Val) rs772592244
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro) rs1040868057
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.1074G>A (p.Trp358Ter) rs74315375
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) rs1553211899
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs) rs1401027751
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe)
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.30GGC[5] (p.Ala16del)
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) rs761957186
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) rs1571537879
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys) rs758126745
NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) rs763099442
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) rs1557894839
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter) rs1658342879
NM_006996.3(SLC19A2):c.725del (p.Pro242fs) rs1571537544
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_006996.3(SLC19A2):c.808-1G>A rs1557889336
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) rs886045529
NM_006996.3(SLC19A2):c.885del (p.Leu296fs) rs1571532822
NM_007055.3(POLR3A):c.-6128_-995del
NM_007194.2(CHEK2):c.-200C>T rs551244874
NM_007209.4(RPL35):c.231G>C (p.Lys77Asn) rs1564307664
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp) rs876659028
NM_007294.4(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile) rs876660144
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro) rs876658843
NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) rs1555589094
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=) rs786201258
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) rs80357386
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala) rs1555588389
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu) rs80357136
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) rs587779368
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs) rs80357520
NM_007294.4(BRCA1):c.3769GAG[1] (p.Glu1258del) rs1057517536
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp) rs2053486938
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4185+11TG[5] rs273900723
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr) rs876660684
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.442-2A>G rs80358155
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter) rs786202631
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4664G>A (p.Arg1555Lys) rs786202165
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.4(BRCA1):c.502A>G (p.Lys168Glu) rs886040263
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5341G>A (p.Glu1781Lys) rs397509268
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) rs879254116
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val) rs587782026
NM_007294.4(BRCA1):c.594_597delTGTG rs797045175
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.744del (p.Thr249fs) rs1060502360
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg) rs80357039
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly) rs55767801
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_012062.5(DNM1L):c.*393A>C rs77298476
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014176.3(UBE2T):c.-65+1253_*12383del
NM_014176.4(UBE2T):c.110-280_468+264del
NM_014176.4(UBE2T):c.110-280_468+264dup
NM_014176.4(UBE2T):c.179+5G>A rs796052212
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
NM_015077.4(SARM1):c.*1389G>A rs41297919
NM_015077.4(SARM1):c.*167T>C rs886052743
NM_015077.4(SARM1):c.*1743A>T rs886052747
NM_015077.4(SARM1):c.*1987T>C rs560836860
NM_015077.4(SARM1):c.*2035G>A rs1390797851
NM_015077.4(SARM1):c.*3093T>C rs886052751
NM_015077.4(SARM1):c.*3280C>T rs782079474
NM_015077.4(SARM1):c.*3366C>A rs886052753
NM_015077.4(SARM1):c.*361= rs2239910
NM_015077.4(SARM1):c.*361C>T rs2239910
NM_015077.4(SARM1):c.*402G>A rs12453383
NM_015077.4(SARM1):c.*425C>T rs1339848912
NM_015077.4(SARM1):c.*469G>A rs2068129559
NM_015077.4(SARM1):c.*68T>C rs886052742
NM_015077.4(SARM1):c.*709C>G rs886052745
NM_015077.4(SARM1):c.*857C>G rs576823032
NM_015077.4(SARM1):c.*884A>G rs537647948
NM_015077.4(SARM1):c.*969C>T rs555975005
NM_015077.4(SARM1):c.1924-162T>A rs886052739
NM_015077.4(SARM1):c.1924-284C>T rs569679076
NM_015077.4(SARM1):c.1924-433A>C rs2068108606
NM_015077.4(SARM1):c.1924-833G>A rs116278566
NM_015077.4(SARM1):c.1924-873dup rs34879232
NM_015077.4(SARM1):c.1924-874_1924-873dup rs34879232
NM_015077.4(SARM1):c.1924-991T>C rs886052736
NM_015077.4(SARM1):c.1998G>C (p.Gln666His) rs886052741
NM_015077.4(SARM1):c.2045+27G>A rs782370729
NM_015077.4(SARM1):c.2089C>G (p.Arg697Gly) rs372946020
NM_015077.4(SARM1):c.2143T>C (p.Leu715=) rs781986662
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.120C>T (p.His40=)
NM_015506.3(MMACHC):c.123dup (p.Pro42fs) rs2149323203
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg) rs2149323209
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
NM_015506.3(MMACHC):c.141C>G (p.Thr47=) rs936938761
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro) rs775502093
NM_015506.3(MMACHC):c.147C>T (p.Ala49=) rs1570829648
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.15C>T (p.Val5=) rs902026116
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg) rs750127773
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.187del (p.Leu63fs) rs1343936481
NM_015506.3(MMACHC):c.189C>T (p.Leu63=)
NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs)
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) rs1570829862
NM_015506.3(MMACHC):c.210C>T (p.Cys70=) rs2149323253
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile) rs772225967
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
NM_015506.3(MMACHC):c.231C>T (p.Asp77=) rs2149323265
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=) rs2149323280
NM_015506.3(MMACHC):c.259C>T (p.Leu87=) rs776402014
NM_015506.3(MMACHC):c.264C>T (p.Gly88=)
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.270T>G (p.Val90=) rs2149323292
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_015506.3(MMACHC):c.276+13C>G rs543041810
NM_015506.3(MMACHC):c.276+13C>T
NM_015506.3(MMACHC):c.276+13_276+14del
NM_015506.3(MMACHC):c.276+17T>C
NM_015506.3(MMACHC):c.276+20C>T
NM_015506.3(MMACHC):c.276+2T>C
NM_015506.3(MMACHC):c.276+2del
NM_015506.3(MMACHC):c.276+5G>A
NM_015506.3(MMACHC):c.276+8A>G
NM_015506.3(MMACHC):c.276+9G>A
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.277-10A>C
NM_015506.3(MMACHC):c.277-13T>C
NM_015506.3(MMACHC):c.277-14G>A
NM_015506.3(MMACHC):c.277-15T>G
NM_015506.3(MMACHC):c.277-17_277-16insA
NM_015506.3(MMACHC):c.277-1G>A
NM_015506.3(MMACHC):c.277-20T>C
NM_015506.3(MMACHC):c.277-2A>G rs202000595
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.277-4C>T
NM_015506.3(MMACHC):c.277-6T>C
NM_015506.3(MMACHC):c.277-7G>A rs1258697986
NM_015506.3(MMACHC):c.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.277-9C>T
NM_015506.3(MMACHC):c.27G>A (p.Lys9=)
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
NM_015506.3(MMACHC):c.288G>A (p.Glu96=) rs1643664191
NM_015506.3(MMACHC):c.291G>A (p.Leu97=) rs566356386
NM_015506.3(MMACHC):c.297A>C (p.Ile99=)
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) rs574983400
NM_015506.3(MMACHC):c.30G>A (p.Gln10=)
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val) rs1553162829
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del) rs1557607881
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
NM_015506.3(MMACHC):c.319G>A (p.Val107Met) rs758730415
NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.339C>G (p.Pro113=) rs2149323560
NM_015506.3(MMACHC):c.33G>A (p.Lys11=) rs770446383
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met) rs2149323564
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val) rs2149323564
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.352C>T (p.Gln118Ter) rs2149323575
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del) rs1643666069
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg) rs1006520706
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
NM_015506.3(MMACHC):c.360A>C (p.Ala120=)
NM_015506.3(MMACHC):c.364dup (p.His122fs) rs1557607997
NM_015506.3(MMACHC):c.366T>A (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.366T>C (p.His122=) rs1643666556
NM_015506.3(MMACHC):c.366T>G (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.369A>T (p.Val123=) rs1643666589
NM_015506.3(MMACHC):c.36C>T (p.Ile12=)
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
NM_015506.3(MMACHC):c.372T>C (p.Ala124=)
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter) rs1553162857
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.393A>C (p.Gln131His) rs2149323606
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter) rs1643667928
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter) rs2149323618
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) rs1553162868
NM_015506.3(MMACHC):c.429+12A>C
NM_015506.3(MMACHC):c.429+13del
NM_015506.3(MMACHC):c.429+14T>A
NM_015506.3(MMACHC):c.429+14T>C
NM_015506.3(MMACHC):c.429+18_429+21del
NM_015506.3(MMACHC):c.429+1G>C rs1643668441
NM_015506.3(MMACHC):c.429+20T>C
NM_015506.3(MMACHC):c.429+20T>G
NM_015506.3(MMACHC):c.429+7G>A rs1227206156
NM_015506.3(MMACHC):c.429+7_429+31del rs2149323628
NM_015506.3(MMACHC):c.429+9G>C
NM_015506.3(MMACHC):c.430-10C>A
NM_015506.3(MMACHC):c.430-10C>T rs550692873
NM_015506.3(MMACHC):c.430-11C>T
NM_015506.3(MMACHC):c.430-12C>T
NM_015506.3(MMACHC):c.430-13A>T
NM_015506.3(MMACHC):c.430-16T>C
NM_015506.3(MMACHC):c.430-2A>G
NM_015506.3(MMACHC):c.430-8C>T rs1217401490
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.433del (p.Ile145fs)
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs) rs2149323799
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.441T>A (p.Gly147=)
NM_015506.3(MMACHC):c.441T>C (p.Gly147=)
NM_015506.3(MMACHC):c.441T>G (p.Gly147=)
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys) rs756413692
NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
NM_015506.3(MMACHC):c.45G>A (p.Thr15=) rs750623781
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser) rs768353633
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) rs1002571805
NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs) rs2149323826
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala) rs1570832855
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs) rs765960386
NM_015506.3(MMACHC):c.490G>A (p.Val164Met) rs1417321919
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.495G>C (p.Leu165=) rs761111018
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.501A>C (p.Pro167=) rs1366306237
NM_015506.3(MMACHC):c.501A>G (p.Pro167=) rs1366306237
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr) rs1643678565
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs) rs2149323855
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
NM_015506.3(MMACHC):c.534del (p.Lys178fs) rs2149323872
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs) rs1553162931
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.546T>C (p.Cys182=) rs2149323890
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.549A>C (p.Val183=)
NM_015506.3(MMACHC):c.54T>A (p.Pro18=)
NM_015506.3(MMACHC):c.54T>C (p.Pro18=)
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs) rs1553162934
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn) rs748747319
NM_015506.3(MMACHC):c.564C>T (p.Asp188=) rs1397062260
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.573C>T (p.Ala191=) rs750572915
NM_015506.3(MMACHC):c.574del (p.Leu192fs) rs1553162943
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.579C>G (p.Leu193=) rs766342926
NM_015506.3(MMACHC):c.579C>T (p.Leu193=)
NM_015506.3(MMACHC):c.588C>T (p.Phe196=)
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
NM_015506.3(MMACHC):c.591T>C (p.Asn197=)
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter) rs1399932916
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter) rs796051997
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs) rs1643682280
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.616del (p.Arg206fs) rs1163462384
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
NM_015506.3(MMACHC):c.619del (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.626dup (p.Thr210fs) rs1570833527
NM_015506.3(MMACHC):c.627G>A (p.Val209=)
NM_015506.3(MMACHC):c.627G>C (p.Val209=) rs1327886469
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser) rs192924272
NM_015506.3(MMACHC):c.634del (p.Gln212fs)
NM_015506.3(MMACHC):c.63C>T (p.Phe21=) rs2149320920
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His) rs755843695
NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer) rs2149323994
NM_015506.3(MMACHC):c.648dup (p.Glu217fs)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs) rs1363738186
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs)
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala) rs781527733
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
NM_015506.3(MMACHC):c.678A>G (p.Pro226=) rs2149324023
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
NM_015506.3(MMACHC):c.696C>G (p.Ala232=) rs767496391
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
NM_015506.3(MMACHC):c.720A>G (p.Ser240=) rs764969563
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.729T>G (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) rs755881820
NM_015506.3(MMACHC):c.732T>C (p.Ser244=) rs1173232857
NM_015506.3(MMACHC):c.738C>A (p.Pro246=)
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.753C>A (p.Pro251=) rs1643688309
NM_015506.3(MMACHC):c.753C>T (p.Pro251=) rs1643688309
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
NM_015506.3(MMACHC):c.75C>T (p.Pro25=)
NM_015506.3(MMACHC):c.762A>C (p.Thr254=)
NM_015506.3(MMACHC):c.762A>G (p.Thr254=) rs771203889
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala) rs533256855
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
NM_015506.3(MMACHC):c.78C>T (p.Phe26=) rs770431439
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs) rs1643689610
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly) rs34258482
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.801G>A (p.Arg267=) rs751017212
NM_015506.3(MMACHC):c.81+10T>G rs2149320953
NM_015506.3(MMACHC):c.81+11C>A
NM_015506.3(MMACHC):c.81+13C>G
NM_015506.3(MMACHC):c.81+13C>T
NM_015506.3(MMACHC):c.81+15C>T
NM_015506.3(MMACHC):c.81+17T>C
NM_015506.3(MMACHC):c.81+1G>A rs745366624
NM_015506.3(MMACHC):c.81+1G>C
NM_015506.3(MMACHC):c.81+1G>T
NM_015506.3(MMACHC):c.81+2T>C
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)
NM_015506.3(MMACHC):c.813C>T (p.Ser271=) rs1311947307
NM_015506.3(MMACHC):c.816C>A (p.Pro272=) rs754568180
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-16G>C
NM_015506.3(MMACHC):c.82-17T>C
NM_015506.3(MMACHC):c.82-18C>T
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.82-2A>G
NM_015506.3(MMACHC):c.82-7G>A
NM_015506.3(MMACHC):c.82-8T>C
NM_015506.3(MMACHC):c.822C>A (p.Val274=) rs746114287
NM_015506.3(MMACHC):c.822C>G (p.Val274=) rs746114287
NM_015506.3(MMACHC):c.828A>C (p.Pro276=) rs1288893138
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr) rs1553163019
NM_015506.3(MMACHC):c.846T>C (p.Pro282=)
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer) rs1289618918
NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
NM_015506.3:c.275_278del
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.10-11G>C
NM_015702.3(MMADHC):c.10-13G>A
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.10-3T>C rs886054921
NM_015702.3(MMADHC):c.105A>G (p.Gly35=)
NM_015702.3(MMADHC):c.105A>T (p.Gly35=) rs761480889
NM_015702.3(MMADHC):c.108A>G (p.Ser36=)
NM_015702.3(MMADHC):c.111A>C (p.Ser37=)
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
NM_015702.3(MMADHC):c.117G>T (p.Ser39=)
NM_015702.3(MMADHC):c.120T>C (p.Asp40=)
NM_015702.3(MMADHC):c.123G>A (p.Glu41=) rs1190732521
NM_015702.3(MMADHC):c.128_129del (p.His43fs) rs1162948308
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) rs864309740
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_015702.3(MMADHC):c.138T>C (p.Ala46=)
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
NM_015702.3(MMADHC):c.150T>C (p.Asp50=) rs2105049895
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
NM_015702.3(MMADHC):c.154+17A>C
NM_015702.3(MMADHC):c.154+1G>C rs1385597423
NM_015702.3(MMADHC):c.154+20G>C
NM_015702.3(MMADHC):c.154+9A>T rs2105049874
NM_015702.3(MMADHC):c.155-10T>C
NM_015702.3(MMADHC):c.155-11dup rs1573878813
NM_015702.3(MMADHC):c.155-12_155-10del
NM_015702.3(MMADHC):c.155-16T>G
NM_015702.3(MMADHC):c.155-16del
NM_015702.3(MMADHC):c.155-17T>C
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.155-6C>T
NM_015702.3(MMADHC):c.155-7T>C rs1305728146
NM_015702.3(MMADHC):c.155-8C>G rs1349035917
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.166G>A (p.Val56Met) rs1682767724
NM_015702.3(MMADHC):c.168G>A (p.Val56=) rs2105048289
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
NM_015702.3(MMADHC):c.192C>A (p.Pro64=) rs2105048270
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg) rs1334273037
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
NM_015702.3(MMADHC):c.207T>C (p.Asp69=) rs1327529103
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) rs864309741
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
NM_015702.3(MMADHC):c.249C>T (p.His83=)
NM_015702.3(MMADHC):c.24_25del (p.Arg8fs) rs1553454436
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs) rs1573878695
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) rs397509362
NM_015702.3(MMADHC):c.309A>C (p.Leu103=)
NM_015702.3(MMADHC):c.309A>T (p.Leu103=) rs1053884096
NM_015702.3(MMADHC):c.30A>G (p.Arg10=) rs749344711
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) rs533388008
NM_015702.3(MMADHC):c.318T>C (p.Pro106=)
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter) rs2105048127
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
NM_015702.3(MMADHC):c.372+17A>G
NM_015702.3(MMADHC):c.372+1G>T rs755561981
NM_015702.3(MMADHC):c.372+8G>A rs2105048110
NM_015702.3(MMADHC):c.372+8G>C rs2105048110
NM_015702.3(MMADHC):c.372+8G>T
NM_015702.3(MMADHC):c.373-10dup rs1682721920
NM_015702.3(MMADHC):c.373-13T>C
NM_015702.3(MMADHC):c.373-13T>G
NM_015702.3(MMADHC):c.373-14C>G
NM_015702.3(MMADHC):c.373-18T>C
NM_015702.3(MMADHC):c.373-1G>A rs764179800
NM_015702.3(MMADHC):c.373-2A>G
NM_015702.3(MMADHC):c.373-4T>G
NM_015702.3(MMADHC):c.373-5C>A
NM_015702.3(MMADHC):c.373-5C>T
NM_015702.3(MMADHC):c.373-8C>G
NM_015702.3(MMADHC):c.373-8C>T
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
NM_015702.3(MMADHC):c.393A>G (p.Glu131=) rs1682721203
NM_015702.3(MMADHC):c.39C>T (p.Ser13=) rs543128117
NM_015702.3(MMADHC):c.402T>A (p.Ile134=)
NM_015702.3(MMADHC):c.438A>G (p.Val146=)
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val) rs768142805
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.456A>G (p.Thr152=) rs374470946
NM_015702.3(MMADHC):c.459T>C (p.Cys153=) rs1323984126
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg) rs1226772166
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter) rs886039425
NM_015702.3(MMADHC):c.478+10G>A
NM_015702.3(MMADHC):c.478+12T>C
NM_015702.3(MMADHC):c.478+15A>T
NM_015702.3(MMADHC):c.478+19T>G
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.478+7C>A
NM_015702.3(MMADHC):c.478+7C>T rs2105046042
NM_015702.3(MMADHC):c.478+8A>T
NM_015702.3(MMADHC):c.478+9T>C rs1573877066
NM_015702.3(MMADHC):c.479-11_479-9del rs777304368
NM_015702.3(MMADHC):c.479-13T>C
NM_015702.3(MMADHC):c.479-15T>A
NM_015702.3(MMADHC):c.479-18G>C
NM_015702.3(MMADHC):c.479-20A>G
NM_015702.3(MMADHC):c.479-2A>G
NM_015702.3(MMADHC):c.479-4G>A rs2105045611
NM_015702.3(MMADHC):c.479-6T>C rs1682708794
NM_015702.3(MMADHC):c.479-7T>A rs1246748373
NM_015702.3(MMADHC):c.479-7T>C rs1246748373
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
NM_015702.3(MMADHC):c.486A>G (p.Glu162=)
NM_015702.3(MMADHC):c.48A>C (p.Pro16=) rs2105050018
NM_015702.3(MMADHC):c.507T>C (p.Ala169=) rs1347714473
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
NM_015702.3(MMADHC):c.531T>C (p.Thr177=) rs369822209
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
NM_015702.3(MMADHC):c.534A>G (p.Val178=) rs1268371654
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
NM_015702.3(MMADHC):c.544dup (p.Thr182fs) rs1308639482
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
NM_015702.3(MMADHC):c.556_557del (p.Met186fs) rs1682706954
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs) rs2105045491
NM_015702.3(MMADHC):c.588A>G (p.Glu196=)
NM_015702.3(MMADHC):c.597G>C (p.Val199=)
NM_015702.3(MMADHC):c.601T>C (p.Leu201=) rs2105045479
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015702.3(MMADHC):c.609+11C>G
NM_015702.3(MMADHC):c.609+13A>G
NM_015702.3(MMADHC):c.609+14T>C
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
NM_015702.3(MMADHC):c.609+8T>G
NM_015702.3(MMADHC):c.609+8_609+100del rs1553453945
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_015702.3(MMADHC):c.610-12C>T
NM_015702.3(MMADHC):c.610-13A>G
NM_015702.3(MMADHC):c.610-1G>A
NM_015702.3(MMADHC):c.610-4G>A rs776311269
NM_015702.3(MMADHC):c.610-8C>T
NM_015702.3(MMADHC):c.610-8del
NM_015702.3(MMADHC):c.610-9C>A
NM_015702.3(MMADHC):c.610-9C>G
NM_015702.3(MMADHC):c.612C>T (p.Phe204=) rs1573874420
NM_015702.3(MMADHC):c.618T>C (p.Asn206=)
NM_015702.3(MMADHC):c.630A>G (p.Glu210=)
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs) rs2105042265
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter) rs141093638
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) rs2105042238
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
NM_015702.3(MMADHC):c.666T>C (p.Ala222=) rs2105042235
NM_015702.3(MMADHC):c.672T>C (p.Phe224=) rs2105042231
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
NM_015702.3(MMADHC):c.684A>C (p.Ser228=) rs766184567
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter) rs2105042210
NM_015702.3(MMADHC):c.696+16T>C
NM_015702.3(MMADHC):c.696+17T>A
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.697-10A>G
NM_015702.3(MMADHC):c.697-16G>A
NM_015702.3(MMADHC):c.697-17C>T
NM_015702.3(MMADHC):c.697-18del
NM_015702.3(MMADHC):c.697-21_697-7dup
NM_015702.3(MMADHC):c.697-4T>C
NM_015702.3(MMADHC):c.697-5C>T
NM_015702.3(MMADHC):c.699T>C (p.Phe233=) rs1682618008
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_015702.3(MMADHC):c.708A>G (p.Pro236=) rs550333538
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)
NM_015702.3(MMADHC):c.714A>C (p.Thr238=) rs2105041533
NM_015702.3(MMADHC):c.723T>G (p.Thr241=)
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu) rs549522925
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) rs549522925
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys) rs773493767
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs) rs2105041468
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
NM_015702.3(MMADHC):c.795T>C (p.Ile265=) rs1682615780
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg) rs2105041421
NM_015702.3(MMADHC):c.819T>C (p.His273=) rs752425275
NM_015702.3(MMADHC):c.822A>G (p.Val274=) rs1474967244
NM_015702.3(MMADHC):c.825T>C (p.Val275=)
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
NM_015702.3(MMADHC):c.840C>T (p.Phe280=) rs2105041390
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) rs559044965
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
NM_015702.3(MMADHC):c.864T>C (p.His288=)
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg) rs1401528755
NM_015702.3(MMADHC):c.876A>G (p.Lys292=) rs1558844562
NM_015702.3(MMADHC):c.877T>C (p.Leu293=)
NM_015702.3(MMADHC):c.885A>C (p.Gly295=) rs746282965
NM_015702.3(MMADHC):c.885A>G (p.Gly295=) rs746282965
NM_015702.3(MMADHC):c.891G>A (p.Ter297=)
NM_015702.3(MMADHC):c.9+12A>T
NM_015702.3(MMADHC):c.9+16C>T
NM_015702.3(MMADHC):c.9+17T>A rs372601477
NM_015702.3(MMADHC):c.9+17T>G
NM_015702.3(MMADHC):c.9+18T>G rs2105053453
NM_015702.3(MMADHC):c.9+19A>C
NM_015702.3(MMADHC):c.9+1G>A
NM_015702.3(MMADHC):c.90C>G (p.Ala30=) rs2105049979
NM_015702.3(MMADHC):c.96G>A (p.Ser32=)
NM_015702.3(MMADHC):c.96G>T (p.Ser32=) rs1366609158
NM_015702.3(MMADHC):c.99T>C (p.Thr33=) rs368111926
NM_015937.6(PIGT):c.1072G>A (p.Val358Met) rs370184382
NM_015937.6(PIGT):c.1401-2A>G rs587777028
NM_015937.6(PIGT):c.197del (p.Tyr66fs) rs1555876283
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_015937.6(PIGT):c.767_770del (p.Lys256fs) rs776974834
NM_016038.4(SBDS):c.101A>T (p.Asn34Ile)
NM_016038.4(SBDS):c.107del (p.Val36fs)
NM_016038.4(SBDS):c.115dup (p.Trp39fs)
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.128+1G>A
NM_016038.4(SBDS):c.129-2A>C
NM_016038.4(SBDS):c.129-71_140del
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.18del (p.Thr7fs) rs1584439050
NM_016038.4(SBDS):c.259-2A>C
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.307_308del (p.Gln103fs)
NM_016038.4(SBDS):c.428C>T (p.Ser143Leu)
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs) rs1411636529
NM_016038.4(SBDS):c.523del (p.Arg175fs)
NM_016038.4(SBDS):c.624+1G>A
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln) rs757497272
NM_016038.4(SBDS):c.95A>G (p.Tyr32Cys) rs1131691842
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800
NM_016123.4(IRAK4):c.161+1G>A
NM_016123.4(IRAK4):c.86A>C (p.Gln29Pro)
NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr) rs1891344853
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln) rs869312752
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala) rs1891515868
NM_017875.4(SLC25A38):c.*212T>G rs72867427
NM_017875.4(SLC25A38):c.*548G>A rs531997173
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_017875.4(SLC25A38):c.*718G>A rs2041842608
NM_017875.4(SLC25A38):c.-15C>A rs1373209338
NM_017875.4(SLC25A38):c.-219T>C rs886058469
NM_017875.4(SLC25A38):c.-273G>A rs184769974
NM_017875.4(SLC25A38):c.-39G>C rs375182491
NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys) rs866266558
NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter) rs2125577893
NM_017875.4(SLC25A38):c.207_214del (p.Met70fs) rs2125578591
NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs) rs2125578633
NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter) rs2125578710
NM_017875.4(SLC25A38):c.276+1G>A rs2125578753
NM_017875.4(SLC25A38):c.276+1G>T rs2125578753
NM_017875.4(SLC25A38):c.277-1G>A rs869312029
NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn) rs762067787
NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu) rs2125579714
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer) rs2125579746
NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs) rs1301033567
NM_017875.4(SLC25A38):c.362del (p.Pro121fs) rs2125579866
NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg) rs2125579946
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017875.4(SLC25A38):c.401G>A (p.Arg134His) rs2041767822
NM_017875.4(SLC25A38):c.409dup (p.Ala137fs) rs2041767936
NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs) rs2125580030
NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn) rs2041768572
NM_017875.4(SLC25A38):c.457-1G>T rs1448237170
NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg) rs772425489
NM_017875.4(SLC25A38):c.475del (p.Glu159fs) rs2041773742
NM_017875.4(SLC25A38):c.480dup (p.Ile161fs) rs2125580393
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=) rs2041775190
NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln) rs121918331
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.562G>C (p.Asp188His) rs2125580560
NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg) rs2125580580
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) rs886058471
NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro) rs2125580600
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn) rs146864395
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017875.4(SLC25A38):c.626-2A>T rs2125582750
NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs) rs781372292
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs) rs1575247302
NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs) rs2125582823
NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro) rs2125582841
NM_017875.4(SLC25A38):c.70-2A>C rs1233124208
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) rs121918332
NM_017875.4(SLC25A38):c.792+5G>C rs2125582986
NM_017875.4(SLC25A38):c.793-1G>C
NM_017875.4(SLC25A38):c.809dup (p.Phe271fs) rs2125584589
NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly) rs147431446
NM_017875.4(SLC25A38):c.858del (p.Ala287fs) rs2125584640
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)
NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter) rs1156987118
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018062.4(FANCL):c.*128G>A rs781556579
NM_018062.4(FANCL):c.*165A>C rs866675905
NM_018062.4(FANCL):c.*165A>G rs866675905
NM_018062.4(FANCL):c.*281C>G rs951671744
NM_018062.4(FANCL):c.*434A>G rs1395685917
NM_018062.4(FANCL):c.*447_*450del rs748896681
NM_018062.4(FANCL):c.*89C>T rs1684780470
NM_018062.4(FANCL):c.1005A>G (p.Gln335=) rs1158938280
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
NM_018062.4(FANCL):c.1014A>G (p.Leu338=)
NM_018062.4(FANCL):c.1017T>C (p.Tyr339=)
NM_018062.4(FANCL):c.1020+14A>G
NM_018062.4(FANCL):c.1020+14del
NM_018062.4(FANCL):c.1020+17T>C
NM_018062.4(FANCL):c.1020+18T>C
NM_018062.4(FANCL):c.1020+20T>G
NM_018062.4(FANCL):c.1020+8dup
NM_018062.4(FANCL):c.1020+9_1020+11del
NM_018062.4(FANCL):c.1021-16C>G
NM_018062.4(FANCL):c.1021-18A>C
NM_018062.4(FANCL):c.1021-18_1021-14dup
NM_018062.4(FANCL):c.1021-18_1021-15dup
NM_018062.4(FANCL):c.1021-22_1021-20del
NM_018062.4(FANCL):c.1021-23_1021-15del
NM_018062.4(FANCL):c.1021-2A>G
NM_018062.4(FANCL):c.1021-7T>C
NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg) rs1558727863
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
NM_018062.4(FANCL):c.102A>G (p.Arg34=) rs759217429
NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs) rs1553433429
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.105C>A (p.Asp35Glu)
NM_018062.4(FANCL):c.105C>T (p.Asp35=)
NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
NM_018062.4(FANCL):c.1078C>A (p.Pro360Thr) rs748875030
NM_018062.4(FANCL):c.1078C>G (p.Pro360Ala) rs748875030
NM_018062.4(FANCL):c.1080A>G (p.Pro360=)
NM_018062.4(FANCL):c.1092+14T>G
NM_018062.4(FANCL):c.1092+15A>G
NM_018062.4(FANCL):c.1092+17T>C
NM_018062.4(FANCL):c.1092+18C>G
NM_018062.4(FANCL):c.1092+1G>C
NM_018062.4(FANCL):c.1092+1_1092+5del rs1558727300
NM_018062.4(FANCL):c.1093-10C>A
NM_018062.4(FANCL):c.1093-10_1093-8del
NM_018062.4(FANCL):c.1093-11T>A
NM_018062.4(FANCL):c.1093-12C>G
NM_018062.4(FANCL):c.1093-13T>A
NM_018062.4(FANCL):c.1093-13T>C
NM_018062.4(FANCL):c.1093-15G>A
NM_018062.4(FANCL):c.1093-15G>T rs767450055
NM_018062.4(FANCL):c.1093-17A>T
NM_018062.4(FANCL):c.1093-18T>G
NM_018062.4(FANCL):c.1096A>G (p.Ile366Val)
NM_018062.4(FANCL):c.1109T>C (p.Met370Thr) rs1684813547
NM_018062.4(FANCL):c.1118G>C (p.Arg373Thr)
NM_018062.4(FANCL):c.1123C>G (p.His375Asp)
NM_018062.4(FANCL):c.121G>A (p.Val41Met)
NM_018062.4(FANCL):c.129T>C (p.Pro43=)
NM_018062.4(FANCL):c.12G>C (p.Thr4=)
NM_018062.4(FANCL):c.134A>T (p.Asp45Val) rs1573820532
NM_018062.4(FANCL):c.136T>A (p.Leu46Ile) rs781357185
NM_018062.4(FANCL):c.136T>G (p.Leu46Val)
NM_018062.4(FANCL):c.138A>G (p.Leu46=)
NM_018062.4(FANCL):c.13del (p.Glu5fs)
NM_018062.4(FANCL):c.141A>G (p.Gln47=)
NM_018062.4(FANCL):c.147G>A (p.Lys49=)
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) rs1558825558
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
NM_018062.4(FANCL):c.150T>C (p.Asn50=)
NM_018062.4(FANCL):c.153A>G (p.Ala51=) rs2103919517
NM_018062.4(FANCL):c.155+18T>A rs1573820307
NM_018062.4(FANCL):c.155+19A>T
NM_018062.4(FANCL):c.155+8G>A
NM_018062.4(FANCL):c.155G>A (p.Arg52Lys) rs1693636944
NM_018062.4(FANCL):c.156-11T>A
NM_018062.4(FANCL):c.156-11T>C
NM_018062.4(FANCL):c.156-12T>C
NM_018062.4(FANCL):c.156-13A>C
NM_018062.4(FANCL):c.156-13A>T
NM_018062.4(FANCL):c.156-14C>T
NM_018062.4(FANCL):c.156-15T>C rs2103886212
NM_018062.4(FANCL):c.156-16C>T
NM_018062.4(FANCL):c.156-3T>G
NM_018062.4(FANCL):c.156-8A>C rs878855045
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
NM_018062.4(FANCL):c.159A>C (p.Leu53Phe)
NM_018062.4(FANCL):c.163T>A (p.Cys55Ser)
NM_018062.4(FANCL):c.167G>C (p.Ser56Thr) rs778972805
NM_018062.4(FANCL):c.181A>G (p.Thr61Ala)
NM_018062.4(FANCL):c.191G>A (p.Ser64Asn) rs1693400339
NM_018062.4(FANCL):c.1A>C (p.Met1Leu)
NM_018062.4(FANCL):c.1A>G (p.Met1Val) rs772037896
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
NM_018062.4(FANCL):c.200A>G (p.His67Arg)
NM_018062.4(FANCL):c.202C>A (p.Arg68=)
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.203G>A (p.Arg68Gln) rs143819820
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn) rs376224867
NM_018062.4(FANCL):c.20G>C (p.Ser7Thr) rs376224867
NM_018062.4(FANCL):c.20G>T (p.Ser7Ile) rs376224867
NM_018062.4(FANCL):c.210A>G (p.Val70=)
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_018062.4(FANCL):c.213A>G (p.Gln71=)
NM_018062.4(FANCL):c.216+13del rs1558823075
NM_018062.4(FANCL):c.216+14A>G
NM_018062.4(FANCL):c.216+17A>G
NM_018062.4(FANCL):c.216+7C>G
NM_018062.4(FANCL):c.216+8C>G
NM_018062.4(FANCL):c.216+9T>C
NM_018062.4(FANCL):c.217-2A>G
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg) rs200559825
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.224A>G (p.Gln75Arg) rs754363760
NM_018062.4(FANCL):c.226C>T (p.His76Tyr) rs1693047999
NM_018062.4(FANCL):c.229T>C (p.Ser77Pro)
NM_018062.4(FANCL):c.22C>A (p.Leu8Met) rs764378405
NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)
NM_018062.4(FANCL):c.233C>G (p.Pro78Arg)
NM_018062.4(FANCL):c.234T>C (p.Pro78=)
NM_018062.4(FANCL):c.235del (p.Asp79fs)
NM_018062.4(FANCL):c.240A>C (p.Leu80=)
NM_018062.4(FANCL):c.241A>G (p.Met81Val) rs1440897827
NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)
NM_018062.4(FANCL):c.24G>A (p.Leu8=)
NM_018062.4(FANCL):c.24G>T (p.Leu8=)
NM_018062.4(FANCL):c.252G>A (p.Met84Ile)
NM_018062.4(FANCL):c.259T>A (p.Leu87Met)
NM_018062.4(FANCL):c.267G>T (p.Met89Ile) rs1378650753
NM_018062.4(FANCL):c.268del (p.Leu90fs) rs869320684
NM_018062.4(FANCL):c.273+19dup rs372101290
NM_018062.4(FANCL):c.273+1G>A rs144729980
NM_018062.4(FANCL):c.273+7A>T
NM_018062.4(FANCL):c.273+7dup
NM_018062.4(FANCL):c.274-11_274-9del rs766344718
NM_018062.4(FANCL):c.274-14C>G
NM_018062.4(FANCL):c.274-19G>A
NM_018062.4(FANCL):c.274G>A (p.Glu92Lys) rs2103754665
NM_018062.4(FANCL):c.276A>G (p.Glu92=)
NM_018062.4(FANCL):c.27G>A (p.Leu9=)
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe) rs370409722
NM_018062.4(FANCL):c.27G>T (p.Leu9Phe)
NM_018062.4(FANCL):c.280_281delinsTT (p.Ala94Phe)
NM_018062.4(FANCL):c.282C>T (p.Ala94=)
NM_018062.4(FANCL):c.287A>G (p.Lys96Arg)
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.291T>C (p.Asn97=)
NM_018062.4(FANCL):c.295C>A (p.Gln99Lys) rs1196510455
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter) rs1196510455
NM_018062.4(FANCL):c.2T>G (p.Met1Arg) rs761291501
NM_018062.4(FANCL):c.308C>T (p.Ala103Val) rs746623168
NM_018062.4(FANCL):c.309A>G (p.Ala103=)
NM_018062.4(FANCL):c.30C>T (p.Arg10=)
NM_018062.4(FANCL):c.310C>T (p.Leu104=) rs1225517747
NM_018062.4(FANCL):c.312A>G (p.Leu104=)
NM_018062.4(FANCL):c.318T>C (p.Pro106=)
NM_018062.4(FANCL):c.319C>G (p.Pro107Ala) rs754028115
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
NM_018062.4(FANCL):c.320del (p.Pro107fs)
NM_018062.4(FANCL):c.324C>G (p.Pro108=)
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
NM_018062.4(FANCL):c.330C>T (p.Phe110=)
NM_018062.4(FANCL):c.333C>T (p.Tyr111=)
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
NM_018062.4(FANCL):c.336A>G (p.Ser112=)
NM_018062.4(FANCL):c.339C>A (p.Ser113Arg) rs2103752897
NM_018062.4(FANCL):c.345T>A (p.Ile115=)
NM_018062.4(FANCL):c.350A>C (p.Glu117Ala) rs2103752683
NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr) rs2104082854
NM_018062.4(FANCL):c.35G>C (p.Cys12Ser)
NM_018062.4(FANCL):c.361C>T (p.Leu121Phe)
NM_018062.4(FANCL):c.363T>C (p.Leu121=)
NM_018062.4(FANCL):c.365G>T (p.Gly122Val) rs2103752402
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter) rs756487177
NM_018062.4(FANCL):c.374+13T>G
NM_018062.4(FANCL):c.374+16_374+20del
NM_018062.4(FANCL):c.374+19_374+20del rs1692517175
NM_018062.4(FANCL):c.374+20T>A
NM_018062.4(FANCL):c.374+3A>G rs999309828
NM_018062.4(FANCL):c.374+7C>T
NM_018062.4(FANCL):c.375-11C>T
NM_018062.4(FANCL):c.375-13_375-11del rs759671554
NM_018062.4(FANCL):c.375-14C>T
NM_018062.4(FANCL):c.375-16C>T
NM_018062.4(FANCL):c.375-17T>G
NM_018062.4(FANCL):c.375-19A>C
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_018062.4(FANCL):c.375-2033C>T
NM_018062.4(FANCL):c.375-20T>A
NM_018062.4(FANCL):c.375-5A>T rs2105148555
NM_018062.4(FANCL):c.378T>A (p.Leu126=) rs746200741
NM_018062.4(FANCL):c.378del (p.Val127fs)
NM_018062.4(FANCL):c.384T>C (p.Tyr128=) rs1245585990
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
NM_018062.4(FANCL):c.385G>T (p.Ala129Ser)
NM_018062.4(FANCL):c.385_397del (p.Ala129fs) rs2105148069
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr) rs1690340999
NM_018062.4(FANCL):c.390T>C (p.Asp130=)
NM_018062.4(FANCL):c.39C>A (p.Pro13=) rs201708705
NM_018062.4(FANCL):c.39C>G (p.Pro13=) rs201708705
NM_018062.4(FANCL):c.3G>A (p.Met1Ile) rs1694527909
NM_018062.4(FANCL):c.405C>G (p.Thr135=)
NM_018062.4(FANCL):c.408C>G (p.Ile136Met) rs1389670408
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.417A>G (p.Lys139=) rs1690337979
NM_018062.4(FANCL):c.420A>G (p.Ala140=) rs1573699668
NM_018062.4(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_018062.4(FANCL):c.428C>G (p.Ala143Gly) rs756000370
NM_018062.4(FANCL):c.429T>C (p.Ala143=)
NM_018062.4(FANCL):c.430T>A (p.Ser144Thr) rs2105147558
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.4(FANCL):c.435T>G (p.Gly145=) rs2105147481
NM_018062.4(FANCL):c.439G>A (p.Glu147Lys)
NM_018062.4(FANCL):c.44T>A (p.Leu15His) rs1694519859
NM_018062.4(FANCL):c.450C>A (p.Ile150=)
NM_018062.4(FANCL):c.454C>T (p.Leu152Phe)
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
NM_018062.4(FANCL):c.456C>G (p.Leu152=)
NM_018062.4(FANCL):c.46C>A (p.Leu16Met)
NM_018062.4(FANCL):c.46C>T (p.Leu16=)
NM_018062.4(FANCL):c.471+13T>C
NM_018062.4(FANCL):c.471+16A>G rs1026741275
NM_018062.4(FANCL):c.471+1G>A
NM_018062.4(FANCL):c.471+2T>C
NM_018062.4(FANCL):c.472-11T>C
NM_018062.4(FANCL):c.472-14T>C rs371196539
NM_018062.4(FANCL):c.472-15A>G rs374750427
NM_018062.4(FANCL):c.472-15A>T rs374750427
NM_018062.4(FANCL):c.472-18G>A
NM_018062.4(FANCL):c.472-5A>G
NM_018062.4(FANCL):c.472-6T>A
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter) rs1689679880
NM_018062.4(FANCL):c.476C>T (p.Pro159Leu)
NM_018062.4(FANCL):c.478G>A (p.Ala160Thr) rs2105101201
NM_018062.4(FANCL):c.47T>G (p.Leu16Arg)
NM_018062.4(FANCL):c.480A>G (p.Ala160=)
NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys) rs2105100994
NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)
NM_018062.4(FANCL):c.507T>C (p.Phe169=) rs1423808735
NM_018062.4(FANCL):c.513T>C (p.Val171=)
NM_018062.4(FANCL):c.51C>G (p.Pro17=) rs772700022
NM_018062.4(FANCL):c.51C>T (p.Pro17=)
NM_018062.4(FANCL):c.524C>T (p.Ala175Val) rs199966372
NM_018062.4(FANCL):c.526T>G (p.Ser176Ala)
NM_018062.4(FANCL):c.528C>G (p.Ser176=)
NM_018062.4(FANCL):c.528C>T (p.Ser176=) rs764969578
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys) rs1689674094
NM_018062.4(FANCL):c.540+10_540+24del rs770182004
NM_018062.4(FANCL):c.540+13C>T rs1442784677
NM_018062.4(FANCL):c.540+16G>T
NM_018062.4(FANCL):c.540+18A>G
NM_018062.4(FANCL):c.541-10T>G
NM_018062.4(FANCL):c.541-11T>A rs1458588728
NM_018062.4(FANCL):c.541-14C>A rs765321485
NM_018062.4(FANCL):c.541-14C>T
NM_018062.4(FANCL):c.541-15T>C rs1685890518
NM_018062.4(FANCL):c.541-15T>G
NM_018062.4(FANCL):c.541-18C>G
NM_018062.4(FANCL):c.541-2A>C
NM_018062.4(FANCL):c.541-4A>G
NM_018062.4(FANCL):c.541-5C>T
NM_018062.4(FANCL):c.541-5del rs1293206231
NM_018062.4(FANCL):c.541-6dup rs746526500
NM_018062.4(FANCL):c.543C>T (p.Ser181=)
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del) rs1573532439
NM_018062.4(FANCL):c.550A>G (p.Ile184Val) rs2104818711
NM_018062.4(FANCL):c.556A>G (p.Ile186Val) rs1685886480
NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)
NM_018062.4(FANCL):c.561T>C (p.Tyr187=) rs1185627493
NM_018062.4(FANCL):c.563G>C (p.Ser188Thr)
NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)
NM_018062.4(FANCL):c.578C>T (p.Ala193Val) rs2104818267
NM_018062.4(FANCL):c.57C>G (p.Asn19Lys) rs1694517921
NM_018062.4(FANCL):c.57C>T (p.Asn19=)
NM_018062.4(FANCL):c.590del (p.Leu197fs)
NM_018062.4(FANCL):c.591A>G (p.Leu197=) rs1320380833
NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)
NM_018062.4(FANCL):c.5C>T (p.Ala2Val) rs551142193
NM_018062.4(FANCL):c.608T>C (p.Val203Ala) rs1453411120
NM_018062.4(FANCL):c.608T>G (p.Val203Gly) rs1453411120
NM_018062.4(FANCL):c.60G>A (p.Arg20=)
NM_018062.4(FANCL):c.612G>A (p.Met204Ile)
NM_018062.4(FANCL):c.614A>C (p.Asp205Ala)
NM_018062.4(FANCL):c.614A>G (p.Asp205Gly)
NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
NM_018062.4(FANCL):c.624T>C (p.Asp208=) rs2104817515
NM_018062.4(FANCL):c.625_627del (p.Glu209del) rs1348381378
NM_018062.4(FANCL):c.626A>G (p.Glu209Gly)
NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)
NM_018062.4(FANCL):c.62C>G (p.Ser21Trp)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.637G>C (p.Val213Leu) rs2104817334
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
NM_018062.4(FANCL):c.642T>C (p.Leu214=)
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly) rs1360050423
NM_018062.4(FANCL):c.654A>G (p.Lys218=)
NM_018062.4(FANCL):c.659C>T (p.Pro220Leu)
NM_018062.4(FANCL):c.659del (p.Pro220fs)
NM_018062.4(FANCL):c.662G>T (p.Arg221Leu) rs761742545
NM_018062.4(FANCL):c.663G>C (p.Arg221=)
NM_018062.4(FANCL):c.663G>T (p.Arg221=)
NM_018062.4(FANCL):c.666T>C (p.Ser222=)
NM_018062.4(FANCL):c.671C>A (p.Thr224Lys) rs779439089
NM_018062.4(FANCL):c.676C>T (p.Arg226Cys)
NM_018062.4(FANCL):c.677G>T (p.Arg226Leu)
NM_018062.4(FANCL):c.680G>C (p.Arg227Thr)
NM_018062.4(FANCL):c.682del (p.Ile228fs)
NM_018062.4(FANCL):c.68C>T (p.Thr23Ile)
NM_018062.4(FANCL):c.691+2_691+5del
NM_018062.4(FANCL):c.691+8C>T rs1327876704
NM_018062.4(FANCL):c.691+9A>G
NM_018062.4(FANCL):c.692-11T>C
NM_018062.4(FANCL):c.692-15C>A
NM_018062.4(FANCL):c.692-15C>G rs370449029
NM_018062.4(FANCL):c.692-18A>C
NM_018062.4(FANCL):c.692-4C>A
NM_018062.4(FANCL):c.692-4C>G
NM_018062.4(FANCL):c.692-6T>C rs1685523497
NM_018062.4(FANCL):c.693T>C (p.Gly231=)
NM_018062.4(FANCL):c.693T>G (p.Gly231=) rs864622189
NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del) rs549637282
NM_018062.4(FANCL):c.699T>C (p.Asn233=)
NM_018062.4(FANCL):c.702T>C (p.Val234=)
NM_018062.4(FANCL):c.703T>C (p.Ser235Pro) rs1383696633
NM_018062.4(FANCL):c.705C>T (p.Ser235=) rs1553435677
NM_018062.4(FANCL):c.70del (p.Val24fs)
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
NM_018062.4(FANCL):c.719T>C (p.Val240Ala) rs1195674676
NM_018062.4(FANCL):c.726C>A (p.Pro242=)
NM_018062.4(FANCL):c.727A>C (p.Arg243=) rs941555289
NM_018062.4(FANCL):c.730C>T (p.His244Tyr)
NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)
NM_018062.4(FANCL):c.737C>T (p.Thr246Ile) rs2104800049
NM_018062.4(FANCL):c.738dup (p.Met247fs)
NM_018062.4(FANCL):c.739_740dup (p.Met247fs) rs1685514075
NM_018062.4(FANCL):c.739dup (p.Met247fs) rs1573518300
NM_018062.4(FANCL):c.746_756del (p.Pro249fs) rs2104799800
NM_018062.4(FANCL):c.750G>C (p.Glu250Asp)
NM_018062.4(FANCL):c.754T>C (p.Phe252Leu) rs780414432
NM_018062.4(FANCL):c.759_762del (p.Phe253fs) rs1553435610
NM_018062.4(FANCL):c.75T>C (p.Tyr25=)
NM_018062.4(FANCL):c.760C>T (p.Leu254Phe) rs1331385236
NM_018062.4(FANCL):c.761_771del (p.Leu254fs) rs2104799592
NM_018062.4(FANCL):c.763G>A (p.Gly255Arg) rs2104799685
NM_018062.4(FANCL):c.767C>G (p.Ala256Gly) rs781438290
NM_018062.4(FANCL):c.768T>C (p.Ala256=)
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln) rs1694515857
NM_018062.4(FANCL):c.775+10C>G rs751857451
NM_018062.4(FANCL):c.775+10C>T
NM_018062.4(FANCL):c.775+11T>G
NM_018062.4(FANCL):c.775+2T>C
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.775+6A>G
NM_018062.4(FANCL):c.776-10del rs374236117
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_018062.4(FANCL):c.776-11_776-10dup rs374236117
NM_018062.4(FANCL):c.776-13_776-10del rs374236117
NM_018062.4(FANCL):c.776-6C>G rs1359670933
NM_018062.4(FANCL):c.776-8A>T rs753745302
NM_018062.4(FANCL):c.776-8dup
NM_018062.4(FANCL):c.776-9A>T rs1685446346
NM_018062.4(FANCL):c.778G>C (p.Val260Leu) rs1573514956
NM_018062.4(FANCL):c.786C>T (p.Pro262=)
NM_018062.4(FANCL):c.795T>C (p.Ile265=) rs1685442755
NM_018062.4(FANCL):c.801G>A (p.Leu267=)
NM_018062.4(FANCL):c.803G>A (p.Ser268Asn)
NM_018062.4(FANCL):c.805A>C (p.Arg269=)
NM_018062.4(FANCL):c.80G>T (p.Gly27Val)
NM_018062.4(FANCL):c.813_816del (p.His272fs) rs1558735946
NM_018062.4(FANCL):c.814C>G (p.His272Asp) rs1047208127
NM_018062.4(FANCL):c.819G>A (p.Leu273=)
NM_018062.4(FANCL):c.81A>C (p.Gly27=) rs1553459821
NM_018062.4(FANCL):c.821+1G>A
NM_018062.4(FANCL):c.822-12C>T
NM_018062.4(FANCL):c.822-13C>G
NM_018062.4(FANCL):c.822-15dup rs570217357
NM_018062.4(FANCL):c.822-4T>G rs2104795280
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.834T>C (p.Asn278=)
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser) rs935920468
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg) rs2104794990
NM_018062.4(FANCL):c.846A>T (p.Gln282His) rs535158133
NM_018062.4(FANCL):c.858T>C (p.Asp286=)
NM_018062.4(FANCL):c.862T>A (p.Leu288Ile)
NM_018062.4(FANCL):c.863T>C (p.Leu288Ser) rs1573513610
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
NM_018062.4(FANCL):c.869T>C (p.Ile290Thr)
NM_018062.4(FANCL):c.873T>C (p.Asp291=) rs773117904
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
NM_018062.4(FANCL):c.89C>G (p.Ser30Trp) rs763615183
NM_018062.4(FANCL):c.902C>A (p.Ser301Tyr)
NM_018062.4(FANCL):c.902C>G (p.Ser301Cys) rs1405173705
NM_018062.4(FANCL):c.903+12C>T
NM_018062.4(FANCL):c.903+14G>A
NM_018062.4(FANCL):c.903+14G>T
NM_018062.4(FANCL):c.903+16_903+17del
NM_018062.4(FANCL):c.903+17T>A
NM_018062.4(FANCL):c.903+1G>T
NM_018062.4(FANCL):c.903+1_903+2del
NM_018062.4(FANCL):c.903+1del
NM_018062.4(FANCL):c.903+6T>A
NM_018062.4(FANCL):c.904-14T>C
NM_018062.4(FANCL):c.904-18_904-15del
NM_018062.4(FANCL):c.904-19A>G
NM_018062.4(FANCL):c.904-1G>A rs2104783888
NM_018062.4(FANCL):c.904-20T>A
NM_018062.4(FANCL):c.904-4G>C
NM_018062.4(FANCL):c.904-4G>T rs757211531
NM_018062.4(FANCL):c.904-7T>G rs2104783967
NM_018062.4(FANCL):c.904-8T>G rs2104784017
NM_018062.4(FANCL):c.904-9_904-7del rs757041554
NM_018062.4(FANCL):c.904-9del rs779011743
NM_018062.4(FANCL):c.908T>G (p.Phe303Cys)
NM_018062.4(FANCL):c.90G>T (p.Ser30=)
NM_018062.4(FANCL):c.911C>T (p.Thr304Ile) rs746454771
NM_018062.4(FANCL):c.913A>G (p.Met305Val) rs553742734
NM_018062.4(FANCL):c.913A>T (p.Met305Leu) rs553742734
NM_018062.4(FANCL):c.914T>C (p.Met305Thr)
NM_018062.4(FANCL):c.921T>C (p.Cys307=) rs959857056
NM_018062.4(FANCL):c.923G>A (p.Gly308Glu) rs2104783676
NM_018062.4(FANCL):c.924A>T (p.Gly308=)
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter) rs1423411761
NM_018062.4(FANCL):c.933T>C (p.Tyr311=)
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
NM_018062.4(FANCL):c.934G>T (p.Ala312Ser) rs2104783559
NM_018062.4(FANCL):c.936T>G (p.Ala312=)
NM_018062.4(FANCL):c.93T>C (p.Ala31=) rs563039004
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
NM_018062.4(FANCL):c.942A>G (p.Gln314=) rs1163349462
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser) rs1060501896
NM_018062.4(FANCL):c.951T>G (p.Gly317=)
NM_018062.4(FANCL):c.953C>T (p.Thr318Ile)
NM_018062.4(FANCL):c.954C>T (p.Thr318=)
NM_018062.4(FANCL):c.955A>C (p.Ile319Leu)
NM_018062.4(FANCL):c.96+11A>G
NM_018062.4(FANCL):c.96+12G>A
NM_018062.4(FANCL):c.96+12G>C
NM_018062.4(FANCL):c.96+14G>A
NM_018062.4(FANCL):c.96+14_96+15inv
NM_018062.4(FANCL):c.96+15G>A
NM_018062.4(FANCL):c.96+18G>A
NM_018062.4(FANCL):c.96+2T>A
NM_018062.4(FANCL):c.96+2T>C
NM_018062.4(FANCL):c.96+4C>A rs1279339819
NM_018062.4(FANCL):c.96+6C>T rs544743506
NM_018062.4(FANCL):c.96+8C>G
NM_018062.4(FANCL):c.96+8C>T
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
NM_018062.4(FANCL):c.965A>G (p.Gln322Arg)
NM_018062.4(FANCL):c.967G>A (p.Val323Met) rs763057392
NM_018062.4(FANCL):c.967G>T (p.Val323Leu) rs763057392
NM_018062.4(FANCL):c.97-13A>T
NM_018062.4(FANCL):c.97-14A>C
NM_018062.4(FANCL):c.97-14A>G
NM_018062.4(FANCL):c.97-15C>T rs2103921401
NM_018062.4(FANCL):c.97-15_97-11del
NM_018062.4(FANCL):c.97-20C>G
NM_018062.4(FANCL):c.97-4A>T rs2103921076
NM_018062.4(FANCL):c.97-7T>C
NM_018062.4(FANCL):c.971G>C (p.Cys324Ser) rs1685176362
NM_018062.4(FANCL):c.974A>T (p.Asp325Val)
NM_018062.4(FANCL):c.984G>T (p.Gln328His)
NM_018124.4(RFWD3):c.1189G>C (p.Val397Leu) rs1567572985
NM_018124.4(RFWD3):c.1577G>A (p.Ser526Asn)
NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys) rs1555524842
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs) rs1205970095
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.1008A>G (p.Gly336=)
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr) rs2149844901
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser) rs1766127830
NM_018368.4(LMBRD1):c.1083+11_1083+14del
NM_018368.4(LMBRD1):c.1083+12A>T
NM_018368.4(LMBRD1):c.1083+15A>C
NM_018368.4(LMBRD1):c.1083+16A>G
NM_018368.4(LMBRD1):c.1084-12dup rs757172535
NM_018368.4(LMBRD1):c.1084-16C>A
NM_018368.4(LMBRD1):c.1084-16C>T
NM_018368.4(LMBRD1):c.1084-1G>A
NM_018368.4(LMBRD1):c.1084-20A>G
NM_018368.4(LMBRD1):c.1084-3dup
NM_018368.4(LMBRD1):c.1084-4del rs757172535
NM_018368.4(LMBRD1):c.1084-5_1084-4dup
NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs) rs2149844541
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=)
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr) rs2149844500
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=)
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1188+10T>A
NM_018368.4(LMBRD1):c.1188+16A>G
NM_018368.4(LMBRD1):c.1189-12T>G
NM_018368.4(LMBRD1):c.1189-13C>T
NM_018368.4(LMBRD1):c.1189-17C>T
NM_018368.4(LMBRD1):c.1189-19G>C rs767672251
NM_018368.4(LMBRD1):c.1189-1G>A rs2149843526
NM_018368.4(LMBRD1):c.1189-4C>G
NM_018368.4(LMBRD1):c.1189-4C>T rs199650812
NM_018368.4(LMBRD1):c.1189-8C>A
NM_018368.4(LMBRD1):c.1191A>G (p.Leu397=)
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
NM_018368.4(LMBRD1):c.120G>T (p.Arg40=)
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=)
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)
NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)
NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=)
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser) rs2149843427
NM_018368.4(LMBRD1):c.1338+1G>C
NM_018368.4(LMBRD1):c.1339-12T>G
NM_018368.4(LMBRD1):c.1339-18T>A
NM_018368.4(LMBRD1):c.1339-8T>C
NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)
NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=)
NM_018368.4(LMBRD1):c.135C>T (p.Val45=)
NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=)
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=)
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs) rs764930914
NM_018368.4(LMBRD1):c.1417+12T>C
NM_018368.4(LMBRD1):c.1418-14A>G
NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=)
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)
NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=)
NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)
NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)
NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)
NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)
NM_018368.4(LMBRD1):c.1509+12T>C rs2149832420
NM_018368.4(LMBRD1):c.1509+13A>G
NM_018368.4(LMBRD1):c.1509+15C>T
NM_018368.4(LMBRD1):c.1509+18A>G
NM_018368.4(LMBRD1):c.1509+20G>A rs116095397
NM_018368.4(LMBRD1):c.1509+7G>A
NM_018368.4(LMBRD1):c.1510-11T>C
NM_018368.4(LMBRD1):c.1510-16T>G
NM_018368.4(LMBRD1):c.1510-4A>G
NM_018368.4(LMBRD1):c.1510-9A>C
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe) rs758878362
NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly) rs761378514
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=)
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.1614T>C (p.Tyr538=)
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val) rs750928457
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=)
NM_018368.4(LMBRD1):c.198G>A (p.Val66=)
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
NM_018368.4(LMBRD1):c.246+10A>G
NM_018368.4(LMBRD1):c.246+16C>T
NM_018368.4(LMBRD1):c.247-13C>A
NM_018368.4(LMBRD1):c.247-14T>A
NM_018368.4(LMBRD1):c.247-17G>A
NM_018368.4(LMBRD1):c.247-20A>G
NM_018368.4(LMBRD1):c.247-6T>C
NM_018368.4(LMBRD1):c.247-8T>A rs769329039
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=) rs769952932
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val) rs756284919
NM_018368.4(LMBRD1):c.307+13C>T
NM_018368.4(LMBRD1):c.307+15G>A
NM_018368.4(LMBRD1):c.307+2del
NM_018368.4(LMBRD1):c.308-17A>G
NM_018368.4(LMBRD1):c.308-1G>A
NM_018368.4(LMBRD1):c.308-5C>T
NM_018368.4(LMBRD1):c.308-6C>T
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=)
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)
NM_018368.4(LMBRD1):c.357C>T (p.Val119=) rs2149877968
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys) rs1765174962
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
NM_018368.4(LMBRD1):c.387T>C (p.Asp129=)
NM_018368.4(LMBRD1):c.393T>C (p.Thr131=)
NM_018368.4(LMBRD1):c.396T>C (p.Ser132=)
NM_018368.4(LMBRD1):c.399del (p.Lys133fs) rs1562112648
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg) rs1582124917
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.405+17T>A
NM_018368.4(LMBRD1):c.405+18A>G
NM_018368.4(LMBRD1):c.405+19G>C
NM_018368.4(LMBRD1):c.405+2T>C
NM_018368.4(LMBRD1):c.405+9C>A
NM_018368.4(LMBRD1):c.406-18T>C
NM_018368.4(LMBRD1):c.406-8G>A
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=)
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=)
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=)
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=)
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=)
NM_018368.4(LMBRD1):c.473+10G>C
NM_018368.4(LMBRD1):c.473+11A>T
NM_018368.4(LMBRD1):c.474-16A>G
NM_018368.4(LMBRD1):c.474-4G>A
NM_018368.4(LMBRD1):c.474-6T>C
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)
NM_018368.4(LMBRD1):c.486A>C (p.Pro162=)
NM_018368.4(LMBRD1):c.486A>G (p.Pro162=)
NM_018368.4(LMBRD1):c.48C>T (p.Cys16=)
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018368.4(LMBRD1):c.516A>G (p.Thr172=)
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
NM_018368.4(LMBRD1):c.562+10G>T
NM_018368.4(LMBRD1):c.562+13T>C
NM_018368.4(LMBRD1):c.562+14T>G
NM_018368.4(LMBRD1):c.562+15T>C
NM_018368.4(LMBRD1):c.562+18del
NM_018368.4(LMBRD1):c.562+18dup
NM_018368.4(LMBRD1):c.562+1G>C
NM_018368.4(LMBRD1):c.562+1G>T
NM_018368.4(LMBRD1):c.562+4_562+7del
NM_018368.4(LMBRD1):c.562+7A>G
NM_018368.4(LMBRD1):c.563-10T>G
NM_018368.4(LMBRD1):c.563-11T>C rs1767012664
NM_018368.4(LMBRD1):c.563-13del
NM_018368.4(LMBRD1):c.563-15T>A
NM_018368.4(LMBRD1):c.563-18G>A
NM_018368.4(LMBRD1):c.563-19A>C
NM_018368.4(LMBRD1):c.563-19A>G
NM_018368.4(LMBRD1):c.563-20_563-19del
NM_018368.4(LMBRD1):c.563-6del
NM_018368.4(LMBRD1):c.577T>C (p.Leu193=)
NM_018368.4(LMBRD1):c.579G>A (p.Leu193=)
NM_018368.4(LMBRD1):c.57C>A (p.Gly19=)
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=) rs1387756161
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
NM_018368.4(LMBRD1):c.60C>T (p.Leu20=) rs2149901083
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
NM_018368.4(LMBRD1):c.614del (p.Met205fs)
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=)
NM_018368.4(LMBRD1):c.636+13G>A
NM_018368.4(LMBRD1):c.636+18A>G
NM_018368.4(LMBRD1):c.636+19A>C
NM_018368.4(LMBRD1):c.636+7G>T
NM_018368.4(LMBRD1):c.637-15T>A
NM_018368.4(LMBRD1):c.637-15T>C
NM_018368.4(LMBRD1):c.637-8T>C
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=)
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser) rs2149856480
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys) rs2149856461
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
NM_018368.4(LMBRD1):c.687C>T (p.Ser229=)
NM_018368.4(LMBRD1):c.69+10G>T
NM_018368.4(LMBRD1):c.69+11C>G
NM_018368.4(LMBRD1):c.69+11C>T
NM_018368.4(LMBRD1):c.69+12G>A
NM_018368.4(LMBRD1):c.69+15T>C
NM_018368.4(LMBRD1):c.69+17G>C
NM_018368.4(LMBRD1):c.69+1G>A
NM_018368.4(LMBRD1):c.69+20T>C
NM_018368.4(LMBRD1):c.69+2T>G
NM_018368.4(LMBRD1):c.69+8dup
NM_018368.4(LMBRD1):c.69+9G>A
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=) rs753043203
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=)
NM_018368.4(LMBRD1):c.70-20C>G
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln) rs1766553572
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=)
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)
NM_018368.4(LMBRD1):c.762+11G>A
NM_018368.4(LMBRD1):c.762+12T>C
NM_018368.4(LMBRD1):c.762+15T>C
NM_018368.4(LMBRD1):c.762+1G>A
NM_018368.4(LMBRD1):c.762+7T>G
NM_018368.4(LMBRD1):c.763-10T>C
NM_018368.4(LMBRD1):c.763-11G>C
NM_018368.4(LMBRD1):c.763-13C>A
NM_018368.4(LMBRD1):c.763-19T>G
NM_018368.4(LMBRD1):c.763-2A>C
NM_018368.4(LMBRD1):c.763-2A>G
NM_018368.4(LMBRD1):c.763-6_771del
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
NM_018368.4(LMBRD1):c.828A>G (p.Leu276=)
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=)
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=)
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=)
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=)
NM_018368.4(LMBRD1):c.915+16A>G
NM_018368.4(LMBRD1):c.915+16A>T
NM_018368.4(LMBRD1):c.915+18A>T
NM_018368.4(LMBRD1):c.915+19A>G
NM_018368.4(LMBRD1):c.916-13T>C
NM_018368.4(LMBRD1):c.916-7C>T
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val) rs1409901040
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val) rs2149845543
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs) rs771477094
NM_018368.4(LMBRD1):c.975G>A (p.Leu325=)
NM_018368.4(LMBRD1):c.980+10G>A
NM_018368.4(LMBRD1):c.980+13G>A
NM_018368.4(LMBRD1):c.980+14A>G
NM_018368.4(LMBRD1):c.980+15C>T
NM_018368.4(LMBRD1):c.980+3A>G
NM_018368.4(LMBRD1):c.981-10T>A
NM_018368.4(LMBRD1):c.981-10T>C
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018368.4(LMBRD1):c.981-14G>T rs1324981458
NM_018368.4(LMBRD1):c.981-17T>C
NM_018368.4(LMBRD1):c.981-3del
NM_018368.4(LMBRD1):c.981-4T>G
NM_018368.4(LMBRD1):c.981-4_981-3dup
NM_018368.4(LMBRD1):c.981-8T>A
NM_018368.4(LMBRD1):c.981-9T>A rs2149844964
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr) rs766881860
NM_018368.4(LMBRD1):c.990A>G (p.Lys330=)
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=)
NM_020207.7(ERCC6L2):c.1203_1206del (p.Thr402fs) rs886037662
NM_020207.7(ERCC6L2):c.1682_1683del (p.Glu561fs) rs2132792543
NM_020207.7(ERCC6L2):c.1948-1G>A
NM_020207.7(ERCC6L2):c.1973G>A (p.Ser658Asn) rs1453856448
NM_020207.7(ERCC6L2):c.3276dup (p.Cys1093fs)
NM_020207.7(ERCC6L2):c.3309dup (p.Ser1104fs)
NM_020207.7(ERCC6L2):c.3492+2T>G rs1588013817
NM_020207.7(ERCC6L2):c.3552G>T (p.Pro1184=) rs12683634
NM_020207.7(ERCC6L2):c.4241A>G (p.Lys1414Arg) rs1588056898
NM_020207.7(ERCC6L2):c.789-6_789-3del rs754561683
NM_020207.7:c.[3409_3410delAT];[3763C>T]
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) rs188675529
NM_020897.3(HCN3):c.*1354A>G rs1674455124
NM_020937.4(FANCM):c.*100TTTA[1] rs886050504
NM_020937.4(FANCM):c.*140_*144del rs886050505
NM_020937.4(FANCM):c.*254dup rs112491585
NM_020937.4(FANCM):c.1000A>C (p.Ile334Leu)
NM_020937.4(FANCM):c.1010C>T (p.Ala337Val)
NM_020937.4(FANCM):c.1015del (p.Asp339fs) rs1216266838
NM_020937.4(FANCM):c.1022T>G (p.Phe341Cys) rs756238597
NM_020937.4(FANCM):c.1028A>G (p.Lys343Arg)
NM_020937.4(FANCM):c.1037C>A (p.Ser346Tyr) rs2139160555
NM_020937.4(FANCM):c.1051-18C>T rs1312919356
NM_020937.4(FANCM):c.1051-19A>G rs2139168541
NM_020937.4(FANCM):c.1051-2A>T rs1886997142
NM_020937.4(FANCM):c.1051-8T>C
NM_020937.4(FANCM):c.1056A>G (p.Ile352Met) rs1376949981
NM_020937.4(FANCM):c.1071C>G (p.Ile357Met) rs780333012
NM_020937.4(FANCM):c.1077A>G (p.Gly359=) rs2139168714
NM_020937.4(FANCM):c.1087A>G (p.Ile363Val)
NM_020937.4(FANCM):c.108C>T (p.Gly36=) rs760179836
NM_020937.4(FANCM):c.1097G>A (p.Ser366Asn)
NM_020937.4(FANCM):c.1098T>C (p.Ser366=) rs747666389
NM_020937.4(FANCM):c.1100T>C (p.Leu367Ser) rs769814213
NM_020937.4(FANCM):c.1111T>C (p.Tyr371His)
NM_020937.4(FANCM):c.1115A>C (p.Glu372Ala)
NM_020937.4(FANCM):c.1120T>C (p.Leu374=)
NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)
NM_020937.4(FANCM):c.1127A>G (p.Gln376Arg) rs1284198432
NM_020937.4(FANCM):c.1129A>G (p.Met377Val)
NM_020937.4(FANCM):c.1132G>C (p.Gly378Arg)
NM_020937.4(FANCM):c.1133G>A (p.Gly378Glu) rs1060501894
NM_020937.4(FANCM):c.1134A>G (p.Gly378=) rs776630034
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter) rs765686151
NM_020937.4(FANCM):c.114C>T (p.Ser38=) rs761652077
NM_020937.4(FANCM):c.1155C>T (p.Phe385=)
NM_020937.4(FANCM):c.1163G>T (p.Gly388Val) rs2139169070
NM_020937.4(FANCM):c.1165del (p.Ile389fs)
NM_020937.4(FANCM):c.1176A>C (p.Gly392=) rs2139169125
NM_020937.4(FANCM):c.1183+10A>G
NM_020937.4(FANCM):c.1183+15A>T rs1264043591
NM_020937.4(FANCM):c.1183+8A>T
NM_020937.4(FANCM):c.1183+9T>C rs1009322588
NM_020937.4(FANCM):c.1184-14C>A
NM_020937.4(FANCM):c.1184-14C>G
NM_020937.4(FANCM):c.1184-15T>A rs2139171197
NM_020937.4(FANCM):c.1184-19C>G
NM_020937.4(FANCM):c.1184-19C>T
NM_020937.4(FANCM):c.1185G>C (p.Gly395=) rs2139171262
NM_020937.4(FANCM):c.1185G>T (p.Gly395=)
NM_020937.4(FANCM):c.1186A>C (p.Met396Leu) rs768041388
NM_020937.4(FANCM):c.1189A>G (p.Thr397Ala)
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter) rs1166587869
NM_020937.4(FANCM):c.1197A>G (p.Ser399=)
NM_020937.4(FANCM):c.1200A>G (p.Lys400=) rs905295349
NM_020937.4(FANCM):c.1208T>C (p.Leu403Pro) rs1887059226
NM_020937.4(FANCM):c.120G>T (p.Ala40=) rs1885476315
NM_020937.4(FANCM):c.1214G>A (p.Arg405Gln)
NM_020937.4(FANCM):c.121C>A (p.Pro41Thr)
NM_020937.4(FANCM):c.1221A>G (p.Glu407=)
NM_020937.4(FANCM):c.1223A>G (p.Asp408Gly) rs1887060432
NM_020937.4(FANCM):c.1224C>G (p.Asp408Glu) rs1887060648
NM_020937.4(FANCM):c.1235T>C (p.Leu412Pro)
NM_020937.4(FANCM):c.1236C>G (p.Leu412=) rs1476021559
NM_020937.4(FANCM):c.1236_1237del (p.Leu412_Tyr413insTer) rs1467556424
NM_020937.4(FANCM):c.1242T>C (p.Asn414=)
NM_020937.4(FANCM):c.124T>A (p.Leu42Met) rs947215531
NM_020937.4(FANCM):c.1253G>A (p.Cys418Tyr) rs527417380
NM_020937.4(FANCM):c.1253G>C (p.Cys418Ser) rs527417380
NM_020937.4(FANCM):c.1260T>A (p.Phe420Leu)
NM_020937.4(FANCM):c.1260T>G (p.Phe420Leu)
NM_020937.4(FANCM):c.1265G>A (p.Arg422His) rs570510177
NM_020937.4(FANCM):c.1268C>T (p.Thr423Ile)
NM_020937.4(FANCM):c.126G>A (p.Leu42=) rs2139100378
NM_020937.4(FANCM):c.1270C>G (p.Arg424Gly)
NM_020937.4(FANCM):c.1282G>C (p.Ala428Pro) rs1177585747
NM_020937.4(FANCM):c.1283C>T (p.Ala428Val)
NM_020937.4(FANCM):c.1285A>T (p.Asn429Tyr)
NM_020937.4(FANCM):c.1286del (p.Asn429fs)
NM_020937.4(FANCM):c.1295C>T (p.Ser432Phe) rs149379175
NM_020937.4(FANCM):c.1305A>G (p.Gln435=) rs2139171928
NM_020937.4(FANCM):c.1309+10T>G rs374945162
NM_020937.4(FANCM):c.1309+3C>G
NM_020937.4(FANCM):c.1309+6del
NM_020937.4(FANCM):c.1309+7T>A
NM_020937.4(FANCM):c.1310-12G>A
NM_020937.4(FANCM):c.1310-12del rs1566738883
NM_020937.4(FANCM):c.1310-13T>A rs749995672
NM_020937.4(FANCM):c.1310-13T>C rs749995672
NM_020937.4(FANCM):c.1310-14T>C
NM_020937.4(FANCM):c.1310-18A>G rs2139173703
NM_020937.4(FANCM):c.1310-20A>G
NM_020937.4(FANCM):c.1310-7G>C rs2139173742
NM_020937.4(FANCM):c.1310G>C (p.Gly437Ala) rs1290183944
NM_020937.4(FANCM):c.1314TAAAAA[1] (p.Asn440_Lys441del) rs771036341
NM_020937.4(FANCM):c.1315A>G (p.Lys439Glu) rs2139173788
NM_020937.4(FANCM):c.1316A>C (p.Lys439Thr) rs1594773798
NM_020937.4(FANCM):c.1317A>C (p.Lys439Asn) rs2139173806
NM_020937.4(FANCM):c.1327T>A (p.Phe443Ile)
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter) rs1270367757
NM_020937.4(FANCM):c.1358T>C (p.Leu453Ser)
NM_020937.4(FANCM):c.1361AAG[1] (p.Glu455del) rs1566739002
NM_020937.4(FANCM):c.1363_1366delinsCAAAGTTAAAGAAA (p.Glu455_Val456delinsGlnSerTer)
NM_020937.4(FANCM):c.1364A>C (p.Glu455Ala) rs889654019
NM_020937.4(FANCM):c.136G>A (p.Ala46Thr)
NM_020937.4(FANCM):c.1371A>T (p.Val457=) rs1407346797
NM_020937.4(FANCM):c.1389A>T (p.Ser463=) rs2139174057
NM_020937.4(FANCM):c.1391G>T (p.Trp464Leu) rs1566739075
NM_020937.4(FANCM):c.1395T>C (p.Asn465=) rs1594773895
NM_020937.4(FANCM):c.1395T>G (p.Asn465Lys) rs1594773895
NM_020937.4(FANCM):c.1396+5G>A rs1887116899
NM_020937.4(FANCM):c.1396+6T>A rs1887117102
NM_020937.4(FANCM):c.1396+9T>A
NM_020937.4(FANCM):c.1396G>A (p.Ala466Thr)
NM_020937.4(FANCM):c.1397-14A>G
NM_020937.4(FANCM):c.1397-14A>T rs757351765
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020937.4(FANCM):c.1397-15TA[8] rs112326758
NM_020937.4(FANCM):c.1397-1_1407del
NM_020937.4(FANCM):c.1397-8A>G
NM_020937.4(FANCM):c.1421G>A (p.Arg474His)
NM_020937.4(FANCM):c.1423G>A (p.Asp475Asn) rs1060501892
NM_020937.4(FANCM):c.1423G>T (p.Asp475Tyr) rs1060501892
NM_020937.4(FANCM):c.1428G>T (p.Glu476Asp)
NM_020937.4(FANCM):c.1430C>T (p.Thr477Ile)
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter) rs552052505
NM_020937.4(FANCM):c.1439T>A (p.Met480Lys) rs776804525
NM_020937.4(FANCM):c.1442TCT[1] (p.Phe482del) rs1163631547
NM_020937.4(FANCM):c.1447T>G (p.Ser483Ala)
NM_020937.4(FANCM):c.1450T>G (p.Ser484Ala) rs1887398867
NM_020937.4(FANCM):c.1452A>T (p.Ser484=) rs1594777564
NM_020937.4(FANCM):c.1457G>A (p.Arg486Gln)
NM_020937.4(FANCM):c.1461T>C (p.Asp487=)
NM_020937.4(FANCM):c.1463G>A (p.Ser488Asn) rs1566742540
NM_020937.4(FANCM):c.1466T>C (p.Val489Ala) rs1887401440
NM_020937.4(FANCM):c.1472A>G (p.Glu491Gly) rs2139186360
NM_020937.4(FANCM):c.147G>A (p.Gln49=) rs1250039443
NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter) rs2139186499
NM_020937.4(FANCM):c.14A>G (p.Gln5Arg)
NM_020937.4(FANCM):c.1501C>G (p.Pro501Ala) rs1887404285
NM_020937.4(FANCM):c.1503A>C (p.Pro501=) rs2139186592
NM_020937.4(FANCM):c.1506_1507insTA (p.Ile503Ter)
NM_020937.4(FANCM):c.1508_1515del (p.Ile503fs)
NM_020937.4(FANCM):c.1511G>C (p.Arg504Thr) rs1023546372
NM_020937.4(FANCM):c.1518G>A (p.Met506Ile) rs1236513030
NM_020937.4(FANCM):c.1521T>G (p.Thr507=) rs1444475815
NM_020937.4(FANCM):c.1528G>T (p.Gly510Cys) rs146291619
NM_020937.4(FANCM):c.1533T>A (p.His511Gln) rs1887408716
NM_020937.4(FANCM):c.1536C>G (p.Ala512=)
NM_020937.4(FANCM):c.1539A>G (p.Ser513=) rs886050499
NM_020937.4(FANCM):c.1540G>C (p.Gly514Arg)
NM_020937.4(FANCM):c.1551G>C (p.Thr517=) rs139535827
NM_020937.4(FANCM):c.1560del (p.Phe520fs) rs2139186964
NM_020937.4(FANCM):c.1563C>A (p.Thr521=) rs775472302
NM_020937.4(FANCM):c.1565A>C (p.Gln522Pro) rs371569048
NM_020937.4(FANCM):c.1577T>A (p.Leu526Gln) rs766715021
NM_020937.4(FANCM):c.1577T>C (p.Leu526Pro) rs766715021
NM_020937.4(FANCM):c.157G>A (p.Asp53Asn)
NM_020937.4(FANCM):c.1581+14G>C rs781169191
NM_020937.4(FANCM):c.1581+15A>G rs1199408690
NM_020937.4(FANCM):c.1581+19G>T
NM_020937.4(FANCM):c.1581+1G>A rs373430198
NM_020937.4(FANCM):c.1581+30_1581+35del
NM_020937.4(FANCM):c.1581+7_1581+9del rs1887415979
NM_020937.4(FANCM):c.1582-13G>A
NM_020937.4(FANCM):c.1582-16A>C rs201905147
NM_020937.4(FANCM):c.1582-16A>G
NM_020937.4(FANCM):c.1584A>G (p.Val528=) rs1158678939
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter) rs1447482674
NM_020937.4(FANCM):c.1599T>C (p.Arg533=)
NM_020937.4(FANCM):c.1603G>A (p.Gly535Ser) rs757592514
NM_020937.4(FANCM):c.1607G>T (p.Gly536Val)
NM_020937.4(FANCM):c.160G>C (p.Asp54His)
NM_020937.4(FANCM):c.1617G>A (p.Thr539=) rs779563169
NM_020937.4(FANCM):c.161ATG[1] (p.Asp55del) rs1566716075
NM_020937.4(FANCM):c.1628C>T (p.Thr543Ile) rs1887816758
NM_020937.4(FANCM):c.1638T>C (p.Gly546=)
NM_020937.4(FANCM):c.1646G>A (p.Gly549Asp)
NM_020937.4(FANCM):c.164A>T (p.Asp55Val) rs1255434449
NM_020937.4(FANCM):c.1658_1660del (p.Gly553del) rs866897480
NM_020937.4(FANCM):c.1665T>C (p.Val555=)
NM_020937.4(FANCM):c.1675A>G (p.Ile559Val)
NM_020937.4(FANCM):c.1677_1678del (p.Ile559fs) rs1887822022
NM_020937.4(FANCM):c.1678T>C (p.Cys560Arg) rs2139204843
NM_020937.4(FANCM):c.1688C>T (p.Ser563Phe) rs1313731290
NM_020937.4(FANCM):c.1690C>A (p.Gln564Lys)
NM_020937.4(FANCM):c.1701A>C (p.Pro567=) rs2139205029
NM_020937.4(FANCM):c.1701A>T (p.Pro567=)
NM_020937.4(FANCM):c.1705C>A (p.Arg569Ser) rs1388696715
NM_020937.4(FANCM):c.1705C>T (p.Arg569Cys) rs1388696715
NM_020937.4(FANCM):c.1709T>C (p.Leu570Pro) rs757831397
NM_020937.4(FANCM):c.1711G>A (p.Val571Ile) rs1887826018
NM_020937.4(FANCM):c.1713A>C (p.Val571=)
NM_020937.4(FANCM):c.1718G>A (p.Arg573Gln)
NM_020937.4(FANCM):c.172C>T (p.Leu58Phe) rs1555358404
NM_020937.4(FANCM):c.1738A>C (p.Lys580Gln) rs1887827994
NM_020937.4(FANCM):c.1747G>A (p.Gly583Ser)
NM_020937.4(FANCM):c.1763T>G (p.Ile588Ser)
NM_020937.4(FANCM):c.1770T>C (p.Ser590=) rs1266191069
NM_020937.4(FANCM):c.1771G>A (p.Glu591Lys)
NM_020937.4(FANCM):c.1778G>A (p.Arg593Gln) rs1887831277
NM_020937.4(FANCM):c.177C>T (p.Val59=) rs2139100946
NM_020937.4(FANCM):c.1782G>A (p.Glu594=) rs141109534
NM_020937.4(FANCM):c.1783G>A (p.Glu595Lys) rs568513434
NM_020937.4(FANCM):c.1786C>A (p.Arg596Ser) rs765671208
NM_020937.4(FANCM):c.1786_1787insTTAC (p.Arg596fs) rs1887832125
NM_020937.4(FANCM):c.1787G>A (p.Arg596His) rs1325033142
NM_020937.4(FANCM):c.1788+6T>G rs2139205570
NM_020937.4(FANCM):c.1795A>T (p.Asn599Tyr)
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter) rs778744393
NM_020937.4(FANCM):c.179C>T (p.Ala60Val) rs200717151
NM_020937.4(FANCM):c.17G>T (p.Arg6Ile) rs1464500995
NM_020937.4(FANCM):c.1808C>A (p.Ser603Tyr) rs1888020761
NM_020937.4(FANCM):c.180G>A (p.Ala60=)
NM_020937.4(FANCM):c.1810A>G (p.Asn604Asp)
NM_020937.4(FANCM):c.1814A>G (p.Lys605Arg)
NM_020937.4(FANCM):c.1826A>G (p.Tyr609Cys)
NM_020937.4(FANCM):c.1827_1828dup (p.Lys610fs) rs1888023074
NM_020937.4(FANCM):c.182C>G (p.Ala61Gly)
NM_020937.4(FANCM):c.183G>A (p.Ala61=)
NM_020937.4(FANCM):c.1841G>C (p.Ser614Thr) rs1888024744
NM_020937.4(FANCM):c.1844del (p.Asn615fs) rs2139214355
NM_020937.4(FANCM):c.1847G>C (p.Arg616Thr) rs2139214385
NM_020937.4(FANCM):c.1851G>A (p.Gln617=)
NM_020937.4(FANCM):c.1862T>A (p.Phe621Tyr) rs2139214525
NM_020937.4(FANCM):c.1866C>T (p.Tyr622=) rs2139214549
NM_020937.4(FANCM):c.1871G>A (p.Arg624Lys)
NM_020937.4(FANCM):c.1876C>T (p.Pro626Ser) rs1462865463
NM_020937.4(FANCM):c.1879C>A (p.Arg627=) rs374626826
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln) rs777379515
NM_020937.4(FANCM):c.1882A>C (p.Met628Leu) rs1888029552
NM_020937.4(FANCM):c.1892A>T (p.Asp631Val)
NM_020937.4(FANCM):c.189G>T (p.Glu63Asp) rs1885484309
NM_020937.4(FANCM):c.1911A>G (p.Leu637=) rs2139214829
NM_020937.4(FANCM):c.1913A>G (p.His638Arg) rs2139214853
NM_020937.4(FANCM):c.1914C>G (p.His638Gln)
NM_020937.4(FANCM):c.1916A>G (p.Lys639Arg) rs2139214881
NM_020937.4(FANCM):c.1922T>A (p.Phe641Tyr) rs2139214923
NM_020937.4(FANCM):c.1924A>G (p.Ile642Val) rs1555363268
NM_020937.4(FANCM):c.1931A>G (p.His644Arg)
NM_020937.4(FANCM):c.1932T>C (p.His644=)
NM_020937.4(FANCM):c.1933G>A (p.Gly645Ser)
NM_020937.4(FANCM):c.1933G>C (p.Gly645Arg)
NM_020937.4(FANCM):c.1934G>A (p.Gly645Asp)
NM_020937.4(FANCM):c.1942G>A (p.Glu648Lys) rs2139215069
NM_020937.4(FANCM):c.1944A>G (p.Glu648=)
NM_020937.4(FANCM):c.1951A>C (p.Lys651Gln) rs774816428
NM_020937.4(FANCM):c.1954C>G (p.Pro652Ala) rs945079138
NM_020937.4(FANCM):c.1958C>G (p.Ser653Cys) rs1888036983
NM_020937.4(FANCM):c.195G>A (p.Glu65=) rs1885485132
NM_020937.4(FANCM):c.1976A>T (p.Lys659Met) rs1888039727
NM_020937.4(FANCM):c.1981T>G (p.Ser661Ala)
NM_020937.4(FANCM):c.1982C>T (p.Ser661Phe)
NM_020937.4(FANCM):c.1984A>G (p.Ile662Val) rs1175276940
NM_020937.4(FANCM):c.1986C>T (p.Ile662=) rs757122378
NM_020937.4(FANCM):c.1992C>A (p.Ser664=)
NM_020937.4(FANCM):c.1995T>C (p.Tyr665=)
NM_020937.4(FANCM):c.1A>G (p.Met1Val) rs752141076
NM_020937.4(FANCM):c.2002+12T>C
NM_020937.4(FANCM):c.2002+16A>G rs370879109
NM_020937.4(FANCM):c.2003-5T>G rs2139226103
NM_020937.4(FANCM):c.2012A>G (p.Gln671Arg) rs1888274919
NM_020937.4(FANCM):c.2024A>G (p.Lys675Arg) rs1888275563
NM_020937.4(FANCM):c.2025G>A (p.Lys675=) rs1888275752
NM_020937.4(FANCM):c.2029G>A (p.Asp677Asn) rs1888276122
NM_020937.4(FANCM):c.202T>C (p.Leu68=)
NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)
NM_020937.4(FANCM):c.2037C>T (p.Phe679=) rs2139226277
NM_020937.4(FANCM):c.2040A>T (p.Leu680Phe)
NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs) rs777996811
NM_020937.4(FANCM):c.2041T>C (p.Ser681Pro)
NM_020937.4(FANCM):c.2046A>G (p.Glu682=) rs201216865
NM_020937.4(FANCM):c.2046A>T (p.Glu682Asp)
NM_020937.4(FANCM):c.2049A>T (p.Glu683Asp) rs1888277477
NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)
NM_020937.4(FANCM):c.2053T>C (p.Phe685Leu)
NM_020937.4(FANCM):c.2053T>G (p.Phe685Val) rs772645088
NM_020937.4(FANCM):c.2058A>C (p.Lys686Asn) rs1888278178
NM_020937.4(FANCM):c.2062T>C (p.Trp688Arg) rs1888278549
NM_020937.4(FANCM):c.2063G>C (p.Trp688Ser) rs2139226471
NM_020937.4(FANCM):c.2064G>C (p.Trp688Cys)
NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)
NM_020937.4(FANCM):c.2078G>A (p.Arg693Lys)
NM_020937.4(FANCM):c.2088C>T (p.Asp696=) rs2139226635
NM_020937.4(FANCM):c.2089A>G (p.Ser697Gly)
NM_020937.4(FANCM):c.2104_2105delinsAG (p.Glu702Arg)
NM_020937.4(FANCM):c.2107A>T (p.Ile703Leu)
NM_020937.4(FANCM):c.2108T>G (p.Ile703Arg) rs1594792069
NM_020937.4(FANCM):c.2108dup (p.Thr704fs)
NM_020937.4(FANCM):c.2110A>G (p.Thr704Ala) rs1888283068
NM_020937.4(FANCM):c.2115G>A (p.Leu705=) rs1279241709
NM_020937.4(FANCM):c.2122G>A (p.Val708Ile) rs1888284033
NM_020937.4(FANCM):c.2135_2140dup (p.Leu713_Gln714insProLeu)
NM_020937.4(FANCM):c.2138T>C (p.Leu713Ser)
NM_020937.4(FANCM):c.2138del (p.Leu713fs) rs1594792135
NM_020937.4(FANCM):c.2140C>G (p.Gln714Glu)
NM_020937.4(FANCM):c.2148G>A (p.Glu716=)
NM_020937.4(FANCM):c.214A>G (p.Asn72Asp)
NM_020937.4(FANCM):c.2160+10A>G rs767254996
NM_020937.4(FANCM):c.2160+12A>G rs1888288038
NM_020937.4(FANCM):c.2160+9A>G rs947000515
NM_020937.4(FANCM):c.2161-11A>T
NM_020937.4(FANCM):c.2161-4dup rs2139234396
NM_020937.4(FANCM):c.2161-5T>C rs2139234390
NM_020937.4(FANCM):c.2161-7A>G
NM_020937.4(FANCM):c.2162C>G (p.Ala721Gly) rs1479368252
NM_020937.4(FANCM):c.2162C>T (p.Ala721Val)
NM_020937.4(FANCM):c.2164C>G (p.Gln722Glu)
NM_020937.4(FANCM):c.2167G>A (p.Glu723Lys)
NM_020937.4(FANCM):c.2169A>G (p.Glu723=)
NM_020937.4(FANCM):c.2185C>T (p.His729Tyr)
NM_020937.4(FANCM):c.2190A>T (p.Gln730His) rs117392855
NM_020937.4(FANCM):c.2191C>T (p.Leu731Phe)
NM_020937.4(FANCM):c.2199_2202del (p.Ser734fs) rs762570903
NM_020937.4(FANCM):c.219C>A (p.Gly73=) rs111252426
NM_020937.4(FANCM):c.219C>G (p.Gly73=)
NM_020937.4(FANCM):c.2201_2202del (p.Leu733_Ser734insTer)
NM_020937.4(FANCM):c.2203G>C (p.Glu735Gln)
NM_020937.4(FANCM):c.2205A>T (p.Glu735Asp) rs759456936
NM_020937.4(FANCM):c.2208G>C (p.Trp736Cys) rs2139234709
NM_020937.4(FANCM):c.2212C>T (p.Leu738=) rs2139234741
NM_020937.4(FANCM):c.221G>C (p.Gly74Ala) rs1348903394
NM_020937.4(FANCM):c.2225A>G (p.His742Arg)
NM_020937.4(FANCM):c.2234C>G (p.Pro745Arg) rs371756587
NM_020937.4(FANCM):c.2237C>T (p.Thr746Ile) rs773541028
NM_020937.4(FANCM):c.2238A>G (p.Thr746=)
NM_020937.4(FANCM):c.2253C>A (p.His751Gln)
NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter)
NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter) rs1888447684
NM_020937.4(FANCM):c.2255del (p.His751_Ser752insTer)
NM_020937.4(FANCM):c.2257G>T (p.Asp753Tyr) rs1888448129
NM_020937.4(FANCM):c.2258A>G (p.Asp753Gly) rs756438082
NM_020937.4(FANCM):c.2260C>T (p.Arg754Ter)
NM_020937.4(FANCM):c.2261G>C (p.Arg754Pro)
NM_020937.4(FANCM):c.2262A>T (p.Arg754=)
NM_020937.4(FANCM):c.2263T>C (p.Cys755Arg)
NM_020937.4(FANCM):c.2266C>A (p.Arg756Ser)
NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu) rs142763060
NM_020937.4(FANCM):c.226T>C (p.Cys76Arg)
NM_020937.4(FANCM):c.2283T>G (p.Leu761=)
NM_020937.4(FANCM):c.2284A>G (p.Met762Val) rs746984040
NM_020937.4(FANCM):c.2285T>C (p.Met762Thr) rs1359486439
NM_020937.4(FANCM):c.2285T>G (p.Met762Arg)
NM_020937.4(FANCM):c.2289A>G (p.Gln763=) rs1431945795
NM_020937.4(FANCM):c.228C>T (p.Cys76=)
NM_020937.4(FANCM):c.2302A>G (p.Met768Val) rs1594795205
NM_020937.4(FANCM):c.2304G>A (p.Met768Ile)
NM_020937.4(FANCM):c.2305A>G (p.Arg769Gly) rs2139235357
NM_020937.4(FANCM):c.2310C>G (p.His770Gln) rs566935444
NM_020937.4(FANCM):c.2310C>T (p.His770=) rs566935444
NM_020937.4(FANCM):c.2316+11_2316+13del rs2139235450
NM_020937.4(FANCM):c.2316+20T>A
NM_020937.4(FANCM):c.2316+2T>A rs2139235421
NM_020937.4(FANCM):c.2316+4G>C
NM_020937.4(FANCM):c.2316G>A (p.Glu772=)
NM_020937.4(FANCM):c.2317-6T>C
NM_020937.4(FANCM):c.2318G>A (p.Gly773Glu)
NM_020937.4(FANCM):c.2323T>A (p.Cys775Ser)
NM_020937.4(FANCM):c.2328C>G (p.Ser776Arg) rs1181869875
NM_020937.4(FANCM):c.2333A>C (p.Glu778Ala) rs1888576524
NM_020937.4(FANCM):c.2335T>C (p.Leu779=) rs1888576727
NM_020937.4(FANCM):c.2336dup (p.Leu779fs) rs1404537579
NM_020937.4(FANCM):c.2340A>G (p.Glu780=)
NM_020937.4(FANCM):c.2342T>A (p.Val781Asp)
NM_020937.4(FANCM):c.2359del (p.Met787fs)
NM_020937.4(FANCM):c.2373C>T (p.Thr791=) rs2139241090
NM_020937.4(FANCM):c.2377A>G (p.Thr793Ala)
NM_020937.4(FANCM):c.2377A>T (p.Thr793Ser) rs201232194
NM_020937.4(FANCM):c.2379A>G (p.Thr793=) rs781017322
NM_020937.4(FANCM):c.2380T>C (p.Phe794Leu)
NM_020937.4(FANCM):c.23T>A (p.Leu8His)
NM_020937.4(FANCM):c.2409T>C (p.Asn803=) rs2139241288
NM_020937.4(FANCM):c.240C>T (p.Gly80=) rs1254073558
NM_020937.4(FANCM):c.2420A>G (p.Asp807Gly)
NM_020937.4(FANCM):c.2423C>A (p.Thr808Asn)
NM_020937.4(FANCM):c.2436C>A (p.His812Gln)
NM_020937.4(FANCM):c.2436C>G (p.His812Gln) rs1888585906
NM_020937.4(FANCM):c.2442A>G (p.Lys814=)
NM_020937.4(FANCM):c.2457G>T (p.Lys819Asn) rs145592211
NM_020937.4(FANCM):c.2460C>T (p.Asn820=) rs199702587
NM_020937.4(FANCM):c.2470G>A (p.Gly824Ser) rs2139241694
NM_020937.4(FANCM):c.2471G>T (p.Gly824Val)
NM_020937.4(FANCM):c.2475T>C (p.Ser825=)
NM_020937.4(FANCM):c.247T>G (p.Trp83Gly) rs1885493663
NM_020937.4(FANCM):c.2492A>C (p.Glu831Ala)
NM_020937.4(FANCM):c.2493A>G (p.Glu831=) rs780819683
NM_020937.4(FANCM):c.2498A>C (p.Asp833Ala)
NM_020937.4(FANCM):c.2501A>C (p.Glu834Ala) rs923735366
NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)
NM_020937.4(FANCM):c.2507G>T (p.Cys836Phe)
NM_020937.4(FANCM):c.251T>G (p.Ile84Ser)
NM_020937.4(FANCM):c.2527A>T (p.Thr843Ser)
NM_020937.4(FANCM):c.2529T>C (p.Thr843=)
NM_020937.4(FANCM):c.2530C>T (p.His844Tyr) rs2139242067
NM_020937.4(FANCM):c.2539C>A (p.Pro847Thr)
NM_020937.4(FANCM):c.2545A>G (p.Lys849Glu) rs1007624205
NM_020937.4(FANCM):c.2548A>G (p.Ile850Val) rs2139242181
NM_020937.4(FANCM):c.254A>G (p.Tyr85Cys) rs1555358445
NM_020937.4(FANCM):c.2563A>G (p.Lys855Glu)
NM_020937.4(FANCM):c.2567A>C (p.Lys856Thr) rs565751937
NM_020937.4(FANCM):c.256C>T (p.Pro86Ser) rs2139101859
NM_020937.4(FANCM):c.2571G>A (p.Val857=) rs2139242297
NM_020937.4(FANCM):c.2578_2580del (p.Glu860del) rs1888597959
NM_020937.4(FANCM):c.2582_2584del (p.Ile861del) rs759751361
NM_020937.4(FANCM):c.2584A>G (p.Lys862Glu) rs1888599671
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2589A>G (p.Lys863=) rs1566762145
NM_020937.4(FANCM):c.2589del (p.Asp864fs) rs768006618
NM_020937.4(FANCM):c.2590del (p.Asp864fs) rs1566762159
NM_020937.4(FANCM):c.2599A>G (p.Lys867Glu) rs1888601587
NM_020937.4(FANCM):c.2603A>T (p.Lys868Ile)
NM_020937.4(FANCM):c.2604A>G (p.Lys868=)
NM_020937.4(FANCM):c.2605_2606del (p.Glu869fs)
NM_020937.4(FANCM):c.260C>T (p.Thr87Ile)
NM_020937.4(FANCM):c.2617G>A (p.Gly873Ser) rs538729337
NM_020937.4(FANCM):c.2617G>T (p.Gly873Cys) rs538729337
NM_020937.4(FANCM):c.261C>A (p.Thr87=)
NM_020937.4(FANCM):c.2624T>C (p.Ile875Thr) rs1594797856
NM_020937.4(FANCM):c.2629dup (p.Ser877fs) rs1888605629
NM_020937.4(FANCM):c.263A>G (p.Asn88Ser) rs1566716433
NM_020937.4(FANCM):c.2642A>G (p.Asp881Gly)
NM_020937.4(FANCM):c.2661A>C (p.Glu887Asp) rs1888608441
NM_020937.4(FANCM):c.2662A>C (p.Asn888His) rs755964806
NM_020937.4(FANCM):c.2672A>G (p.Gln891Arg) rs753820999
NM_020937.4(FANCM):c.2673A>G (p.Gln891=) rs1314872979
NM_020937.4(FANCM):c.2678A>G (p.Asp893Gly)
NM_020937.4(FANCM):c.2678_2680dup (p.Asp893_Leu894insHis)
NM_020937.4(FANCM):c.267C>T (p.Cys89=)
NM_020937.4(FANCM):c.2686A>G (p.Asn896Asp)
NM_020937.4(FANCM):c.2687A>G (p.Asn896Ser) rs2139243150
NM_020937.4(FANCM):c.2693A>G (p.Lys898Arg)
NM_020937.4(FANCM):c.2698A>C (p.Thr900Pro)
NM_020937.4(FANCM):c.2699C>T (p.Thr900Ile) rs1555364640
NM_020937.4(FANCM):c.2705A>C (p.Asp902Ala)
NM_020937.4(FANCM):c.2723C>G (p.Ala908Gly) rs201464936
NM_020937.4(FANCM):c.2723C>T (p.Ala908Val) rs201464936
NM_020937.4(FANCM):c.2729G>A (p.Cys910Tyr) rs2139243498
NM_020937.4(FANCM):c.272T>C (p.Val91Ala) rs1885496103
NM_020937.4(FANCM):c.2741A>C (p.Glu914Ala) rs774814027
NM_020937.4(FANCM):c.2754A>C (p.Lys918Asn)
NM_020937.4(FANCM):c.2760G>C (p.Pro920=) rs145506906
NM_020937.4(FANCM):c.2764G>A (p.Val922Met) rs1888619129
NM_020937.4(FANCM):c.2784G>T (p.Gln928His)
NM_020937.4(FANCM):c.2792A>G (p.Asn931Ser)
NM_020937.4(FANCM):c.2796A>G (p.Lys932=)
NM_020937.4(FANCM):c.2801C>G (p.Thr934Ser)
NM_020937.4(FANCM):c.2801C>T (p.Thr934Ile)
NM_020937.4(FANCM):c.2804G>A (p.Ser935Asn) rs1888621670
NM_020937.4(FANCM):c.2804G>T (p.Ser935Ile) rs1888621670
NM_020937.4(FANCM):c.2805T>C (p.Ser935=) rs1049679142
NM_020937.4(FANCM):c.2812G>T (p.Ala938Ser)
NM_020937.4(FANCM):c.2813C>G (p.Ala938Gly) rs2139244001
NM_020937.4(FANCM):c.2817A>C (p.Gly939=)
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer) rs2139244126
NM_020937.4(FANCM):c.2834G>C (p.Gly945Ala) rs1193165722
NM_020937.4(FANCM):c.2837A>G (p.Tyr946Cys)
NM_020937.4(FANCM):c.2842A>G (p.Ser948Gly)
NM_020937.4(FANCM):c.2859A>G (p.Lys953=) rs142864437
NM_020937.4(FANCM):c.2861C>G (p.Ser954Cys) rs1594798282
NM_020937.4(FANCM):c.2868A>G (p.Ser956=)
NM_020937.4(FANCM):c.2869T>C (p.Ser957Pro) rs1888628299
NM_020937.4(FANCM):c.2877A>G (p.Leu959=) rs2139244524
NM_020937.4(FANCM):c.2881_2901del (p.Leu961_Leu967del) rs1888630158
NM_020937.4(FANCM):c.2888T>C (p.Phe963Ser)
NM_020937.4(FANCM):c.2889C>G (p.Phe963Leu)
NM_020937.4(FANCM):c.2892A>G (p.Glu964=) rs1300082794
NM_020937.4(FANCM):c.2896G>C (p.Glu966Gln) rs762791482
NM_020937.4(FANCM):c.2908G>A (p.Val970Ile)
NM_020937.4(FANCM):c.2908G>T (p.Val970Phe) rs1245895480
NM_020937.4(FANCM):c.2921A>G (p.Asp974Gly)
NM_020937.4(FANCM):c.2922C>A (p.Asp974Glu) rs1888633712
NM_020937.4(FANCM):c.2925A>G (p.Gln975=) rs1594798411
NM_020937.4(FANCM):c.2952A>C (p.Lys984Asn)
NM_020937.4(FANCM):c.2953del (p.Glu985fs)
NM_020937.4(FANCM):c.2956G>A (p.Val986Ile) rs112345761
NM_020937.4(FANCM):c.2958A>C (p.Val986=) rs779452715
NM_020937.4(FANCM):c.2958A>T (p.Val986=) rs779452715
NM_020937.4(FANCM):c.295T>C (p.Ser99Pro)
NM_020937.4(FANCM):c.2967T>C (p.Asn989=)
NM_020937.4(FANCM):c.2967T>G (p.Asn989Lys)
NM_020937.4(FANCM):c.2971_2972delinsAG (p.Glu991Arg) rs2139245094
NM_020937.4(FANCM):c.2979T>G (p.Phe993Leu)
NM_020937.4(FANCM):c.2982dup (p.Ser995fs)
NM_020937.4(FANCM):c.2990C>A (p.Ser997Tyr)
NM_020937.4(FANCM):c.2991T>G (p.Ser997=)
NM_020937.4(FANCM):c.3004A>G (p.Ser1002Gly) rs1594798521
NM_020937.4(FANCM):c.3012C>A (p.Leu1004=)
NM_020937.4(FANCM):c.301G>T (p.Ala101Ser)
NM_020937.4(FANCM):c.3037A>G (p.Lys1013Glu) rs1888643453
NM_020937.4(FANCM):c.3041G>T (p.Gly1014Val)
NM_020937.4(FANCM):c.3054G>T (p.Glu1018Asp)
NM_020937.4(FANCM):c.3058T>A (p.Leu1020Met)
NM_020937.4(FANCM):c.3061C>T (p.Leu1021Phe)
NM_020937.4(FANCM):c.3063T>A (p.Leu1021=)
NM_020937.4(FANCM):c.3064T>C (p.Phe1022Leu)
NM_020937.4(FANCM):c.3065T>C (p.Phe1022Ser) rs1263906591
NM_020937.4(FANCM):c.3066C>T (p.Phe1022=) rs1444147003
NM_020937.4(FANCM):c.306T>C (p.Ala102=)
NM_020937.4(FANCM):c.3072C>G (p.Pro1024=) rs749180096
NM_020937.4(FANCM):c.3075T>C (p.Cys1025=) rs1237374207
NM_020937.4(FANCM):c.307C>G (p.Leu103Val) rs768136056
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)
NM_020937.4(FANCM):c.3089G>A (p.Arg1030Gln) rs1594798699
NM_020937.4(FANCM):c.3092G>T (p.Ser1031Ile) rs1176625946
NM_020937.4(FANCM):c.3095A>G (p.Asp1032Gly) rs776989238
NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val) rs776989238
NM_020937.4(FANCM):c.3102C>G (p.Cys1034Trp)
NM_020937.4(FANCM):c.3103A>C (p.Thr1035Pro) rs1594798747
NM_020937.4(FANCM):c.3103A>T (p.Thr1035Ser)
NM_020937.4(FANCM):c.3111G>C (p.Leu1037Phe) rs2139246120
NM_020937.4(FANCM):c.3113T>C (p.Leu1038Pro)
NM_020937.4(FANCM):c.3134C>T (p.Ser1045Phe)
NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter)
NM_020937.4(FANCM):c.3149A>T (p.Glu1050Val)
NM_020937.4(FANCM):c.3152T>C (p.Leu1051Ser) rs1888655331
NM_020937.4(FANCM):c.3159A>G (p.Ser1053=)
NM_020937.4(FANCM):c.3166T>G (p.Cys1056Gly)
NM_020937.4(FANCM):c.3177T>C (p.Tyr1059=)
NM_020937.4(FANCM):c.3187A>G (p.Lys1063Glu) rs1171533572
NM_020937.4(FANCM):c.3190del (p.Ser1064fs) rs778191984
NM_020937.4(FANCM):c.3191G>A (p.Ser1064Asn)
NM_020937.4(FANCM):c.3205A>G (p.Ile1069Val) rs2139246678
NM_020937.4(FANCM):c.3206T>C (p.Ile1069Thr)
NM_020937.4(FANCM):c.3213T>C (p.Asn1071=)
NM_020937.4(FANCM):c.3218A>G (p.Asn1073Ser) rs1888660531
NM_020937.4(FANCM):c.3221T>C (p.Ile1074Thr)
NM_020937.4(FANCM):c.3224C>A (p.Ser1075Tyr) rs1888661185
NM_020937.4(FANCM):c.3224C>T (p.Ser1075Phe)
NM_020937.4(FANCM):c.3227A>G (p.Asp1076Gly)
NM_020937.4(FANCM):c.3235_3238del (p.Leu1080fs)
NM_020937.4(FANCM):c.3238C>G (p.Leu1080Val) rs1888662319
NM_020937.4(FANCM):c.3238C>T (p.Leu1080Phe)
NM_020937.4(FANCM):c.3240CTGTGA[1] (p.1081CD[1]) rs1888662522
NM_020937.4(FANCM):c.3242G>A (p.Cys1081Tyr) rs1273042421
NM_020937.4(FANCM):c.3244G>A (p.Asp1082Asn) rs2139246974
NM_020937.4(FANCM):c.3247T>C (p.Cys1083Arg) rs1594798970
NM_020937.4(FANCM):c.324G>A (p.Leu108=) rs1885502120
NM_020937.4(FANCM):c.3254T>C (p.Val1085Ala)
NM_020937.4(FANCM):c.3258T>A (p.His1086Gln) rs2139247109
NM_020937.4(FANCM):c.3261A>T (p.Lys1087Asn) rs1888664392
NM_020937.4(FANCM):c.3263A>G (p.His1088Arg)
NM_020937.4(FANCM):c.3268C>G (p.Gln1090Glu) rs752061240
NM_020937.4(FANCM):c.326T>C (p.Val109Ala) rs1594750831
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter) rs1555364837
NM_020937.4(FANCM):c.3292A>G (p.Asn1098Asp) rs1888666556
NM_020937.4(FANCM):c.3297T>G (p.Arg1099=)
NM_020937.4(FANCM):c.3300T>C (p.Val1100=) rs2139247394
NM_020937.4(FANCM):c.3303A>C (p.Gln1101His) rs1403821078
NM_020937.4(FANCM):c.3313A>G (p.Ser1105Gly) rs777264888
NM_020937.4(FANCM):c.3319G>A (p.Ala1107Thr) rs996666429
NM_020937.4(FANCM):c.3321A>G (p.Ala1107=) rs2139247556
NM_020937.4(FANCM):c.3323A>G (p.Gln1108Arg) rs376223629
NM_020937.4(FANCM):c.3327T>A (p.Asn1109Lys)
NM_020937.4(FANCM):c.3331G>A (p.Val1111Ile)
NM_020937.4(FANCM):c.3344A>G (p.Asn1115Ser)
NM_020937.4(FANCM):c.3360C>T (p.Asn1120=) rs2139247801
NM_020937.4(FANCM):c.3363T>C (p.Ser1121=) rs746805378
NM_020937.4(FANCM):c.3366C>A (p.Asp1122Glu) rs768546653
NM_020937.4(FANCM):c.3367C>T (p.Leu1123Phe) rs1888672087
NM_020937.4(FANCM):c.3368T>C (p.Leu1123Pro)
NM_020937.4(FANCM):c.336T>A (p.Pro112=) rs2139102671
NM_020937.4(FANCM):c.3373G>C (p.Val1125Leu) rs1594799126
NM_020937.4(FANCM):c.3382A>T (p.Thr1128Ser)
NM_020937.4(FANCM):c.3384T>G (p.Thr1128=) rs1888673774
NM_020937.4(FANCM):c.3394G>A (p.Glu1132Lys)
NM_020937.4(FANCM):c.339C>T (p.Thr113=) rs2139102705
NM_020937.4(FANCM):c.3402G>C (p.Leu1134Phe) rs1888675805
NM_020937.4(FANCM):c.3405G>A (p.Leu1135=)
NM_020937.4(FANCM):c.3410T>G (p.Phe1137Cys) rs774431370
NM_020937.4(FANCM):c.3426A>G (p.Thr1142=) rs1888678554
NM_020937.4(FANCM):c.3436G>C (p.Asp1146His)
NM_020937.4(FANCM):c.3440T>G (p.Val1147Gly)
NM_020937.4(FANCM):c.3442A>G (p.Ser1148Gly) rs1888681289
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs) rs1888681090
NM_020937.4(FANCM):c.3453C>T (p.Pro1151=)
NM_020937.4(FANCM):c.3455T>C (p.Leu1152Ser) rs948354347
NM_020937.4(FANCM):c.3459C>T (p.Asn1153=) rs200543364
NM_020937.4(FANCM):c.3460A>G (p.Ser1154Gly)
NM_020937.4(FANCM):c.3461G>T (p.Ser1154Ile)
NM_020937.4(FANCM):c.3467G>A (p.Ser1156Asn) rs2139248693
NM_020937.4(FANCM):c.3468C>T (p.Ser1156=) rs756947100
NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs) rs2139248770
NM_020937.4(FANCM):c.3478C>G (p.Pro1160Ala)
NM_020937.4(FANCM):c.3480T>C (p.Pro1160=) rs2139248830
NM_020937.4(FANCM):c.3489C>A (p.Asp1163Glu)
NM_020937.4(FANCM):c.3489C>G (p.Asp1163Glu)
NM_020937.4(FANCM):c.3494C>G (p.Thr1165Ser) rs200110609
NM_020937.4(FANCM):c.3494_3499dup (p.Ala1166_Ile1167insThrAla)
NM_020937.4(FANCM):c.3500T>C (p.Ile1167Thr) rs1888687169
NM_020937.4(FANCM):c.3504T>G (p.Ser1168Arg) rs2139249069
NM_020937.4(FANCM):c.3514C>G (p.Leu1172Val) rs774361836
NM_020937.4(FANCM):c.3517G>A (p.Val1173Ile) rs772176794
NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter) rs2139249281
NM_020937.4(FANCM):c.3525G>A (p.Gln1175=) rs761300333
NM_020937.4(FANCM):c.3525G>C (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His) rs761300333
NM_020937.4(FANCM):c.3539A>G (p.Asp1180Gly) rs2139249394
NM_020937.4(FANCM):c.3546T>G (p.Leu1182=)
NM_020937.4(FANCM):c.3556A>G (p.Asn1186Asp) rs1375995948
NM_020937.4(FANCM):c.3567A>G (p.Glu1189=) rs923480918
NM_020937.4(FANCM):c.3568C>T (p.Leu1190Phe) rs367682848
NM_020937.4(FANCM):c.3578A>C (p.Gln1193Pro) rs1888695039
NM_020937.4(FANCM):c.3584C>G (p.Thr1195Ser)
NM_020937.4(FANCM):c.3586C>T (p.Arg1196Cys) rs1360072407
NM_020937.4(FANCM):c.3594T>C (p.Ala1198=) rs2139249785
NM_020937.4(FANCM):c.3603del (p.Phe1201fs)
NM_020937.4(FANCM):c.3606A>G (p.Lys1202=)
NM_020937.4(FANCM):c.3613G>A (p.Asp1205Asn) rs936653683
NM_020937.4(FANCM):c.3625G>A (p.Val1209Ile)
NM_020937.4(FANCM):c.3626T>C (p.Val1209Ala)
NM_020937.4(FANCM):c.3628C>G (p.Gln1210Glu) rs372276411
NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter) rs372276411
NM_020937.4(FANCM):c.362C>T (p.Ala121Val) rs899740775
NM_020937.4(FANCM):c.3631G>A (p.Glu1211Lys)
NM_020937.4(FANCM):c.3639dup (p.Val1214fs)
NM_020937.4(FANCM):c.3640G>A (p.Val1214Met) rs1888701877
NM_020937.4(FANCM):c.3650A>C (p.His1217Pro) rs762245674
NM_020937.4(FANCM):c.3653A>G (p.Glu1218Gly) rs2139250247
NM_020937.4(FANCM):c.3654G>C (p.Glu1218Asp)
NM_020937.4(FANCM):c.3657T>C (p.Asp1219=) rs2139250297
NM_020937.4(FANCM):c.3659T>G (p.Ile1220Ser) rs2139250318
NM_020937.4(FANCM):c.3662T>C (p.Phe1221Ser) rs1350824740
NM_020937.4(FANCM):c.3663T>C (p.Phe1221=) rs772996800
NM_020937.4(FANCM):c.3664G>C (p.Asp1222His) rs145411480
NM_020937.4(FANCM):c.3669C>T (p.Cys1223=)
NM_020937.4(FANCM):c.3670T>C (p.Ser1224Pro)
NM_020937.4(FANCM):c.3673A>C (p.Arg1225=) rs751089780
NM_020937.4(FANCM):c.3683T>C (p.Phe1228Ser) rs1566765698
NM_020937.4(FANCM):c.3692C>A (p.Thr1231Asn) rs1555364981
NM_020937.4(FANCM):c.3697G>C (p.Asp1233His) rs1888706777
NM_020937.4(FANCM):c.36G>T (p.Trp12Cys) rs2139099472
NM_020937.4(FANCM):c.3703G>C (p.Gly1235Arg) rs1888706953
NM_020937.4(FANCM):c.3706T>G (p.Phe1236Val)
NM_020937.4(FANCM):c.3725A>G (p.Asp1242Gly) rs994282538
NM_020937.4(FANCM):c.3729T>G (p.Asp1243Glu)
NM_020937.4(FANCM):c.3732_3735dup (p.Leu1246fs) rs1159078705
NM_020937.4(FANCM):c.3736T>G (p.Leu1246Val) rs1888710046
NM_020937.4(FANCM):c.3743A>G (p.His1248Arg) rs1181209142
NM_020937.4(FANCM):c.3746C>A (p.Thr1249Lys) rs768667842
NM_020937.4(FANCM):c.3747A>G (p.Thr1249=) rs1017919543
NM_020937.4(FANCM):c.374T>C (p.Met125Thr) rs780601895
NM_020937.4(FANCM):c.3752A>G (p.Asp1251Gly) rs1425871684
NM_020937.4(FANCM):c.3753T>C (p.Asp1251=) rs748733630
NM_020937.4(FANCM):c.3759T>C (p.Asn1253=) rs762631403
NM_020937.4(FANCM):c.375G>A (p.Met125Ile)
NM_020937.4(FANCM):c.3760A>G (p.Arg1254Gly)
NM_020937.4(FANCM):c.3763C>T (p.Pro1255Ser) rs770651053
NM_020937.4(FANCM):c.3767T>G (p.Leu1256Arg)
NM_020937.4(FANCM):c.3769GAT[1] (p.Asp1258del) rs2139251128
NM_020937.4(FANCM):c.3780T>C (p.Tyr1260=)
NM_020937.4(FANCM):c.3783A>G (p.Gly1261=)
NM_020937.4(FANCM):c.3785G>A (p.Arg1262Lys) rs2139251254
NM_020937.4(FANCM):c.3788A>G (p.Tyr1263Cys)
NM_020937.4(FANCM):c.3793G>C (p.Glu1265Gln) rs1566766047
NM_020937.4(FANCM):c.3799A>C (p.Lys1267Gln) rs1888716067
NM_020937.4(FANCM):c.3819T>A (p.Asn1273Lys) rs2139251440
NM_020937.4(FANCM):c.3822T>C (p.Tyr1274=)
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser) rs1594799862
NM_020937.4(FANCM):c.3831T>A (p.Asn1277Lys) rs1888717904
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter) rs1888718087
NM_020937.4(FANCM):c.3834A>G (p.Gln1278=)
NM_020937.4(FANCM):c.3844_3856del (p.Pro1282fs)
NM_020937.4(FANCM):c.3856A>G (p.Ser1286Gly)
NM_020937.4(FANCM):c.3857G>T (p.Ser1286Ile)
NM_020937.4(FANCM):c.385T>C (p.Tyr129His) rs1360033335
NM_020937.4(FANCM):c.3871A>G (p.Ser1291Gly)
NM_020937.4(FANCM):c.3873T>C (p.Ser1291=)
NM_020937.4(FANCM):c.3875G>A (p.Gly1292Glu)
NM_020937.4(FANCM):c.3882TAT[1] (p.Ile1296del) rs1312125043
NM_020937.4(FANCM):c.3883A>G (p.Ile1295Val) rs2139251959
NM_020937.4(FANCM):c.388C>G (p.Arg130Gly) rs758891745
NM_020937.4(FANCM):c.388C>T (p.Arg130Cys) rs758891745
NM_020937.4(FANCM):c.3896A>T (p.Asn1299Ile) rs761637559
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter) rs751795256
NM_020937.4(FANCM):c.389G>A (p.Arg130His) rs751804045
NM_020937.4(FANCM):c.389G>T (p.Arg130Leu)
NM_020937.4(FANCM):c.3900A>C (p.Glu1300Asp)
NM_020937.4(FANCM):c.3902A>T (p.Asp1301Val) rs1183935509
NM_020937.4(FANCM):c.3907C>A (p.Gln1303Lys) rs369549739
NM_020937.4(FANCM):c.3909G>A (p.Gln1303=) rs1594799961
NM_020937.4(FANCM):c.3916A>G (p.Asn1306Asp)
NM_020937.4(FANCM):c.3919T>C (p.Tyr1307His) rs1888726971
NM_020937.4(FANCM):c.3931C>T (p.Pro1311Ser) rs143997277
NM_020937.4(FANCM):c.3941C>T (p.Ala1314Val)
NM_020937.4(FANCM):c.3950dup (p.Asn1317fs) rs2139252496
NM_020937.4(FANCM):c.3960G>C (p.Leu1320Phe)
NM_020937.4(FANCM):c.3962T>C (p.Leu1321Ser)
NM_020937.4(FANCM):c.3963A>G (p.Leu1321=) rs2139252605
NM_020937.4(FANCM):c.3964T>G (p.Ser1322Ala)
NM_020937.4(FANCM):c.3965C>T (p.Ser1322Phe) rs1594800025
NM_020937.4(FANCM):c.3968C>A (p.Pro1323His)
NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu) rs1369746830
NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)
NM_020937.4(FANCM):c.3977C>T (p.Ser1326Phe)
NM_020937.4(FANCM):c.3985del (p.Ser1329fs)
NM_020937.4(FANCM):c.3988T>C (p.Leu1330=) rs2139252786
NM_020937.4(FANCM):c.3989T>C (p.Leu1330Ser)
NM_020937.4(FANCM):c.398C>T (p.Pro133Leu) rs139382920
NM_020937.4(FANCM):c.3995T>C (p.Val1332Ala)
NM_020937.4(FANCM):c.4002A>G (p.Lys1334=) rs2139252929
NM_020937.4(FANCM):c.4005A>G (p.Lys1335=) rs1888735204
NM_020937.4(FANCM):c.4005del (p.Val1336fs) rs746983128
NM_020937.4(FANCM):c.4005dup (p.Val1336fs) rs746983128
NM_020937.4(FANCM):c.4016C>T (p.Thr1339Ile)
NM_020937.4(FANCM):c.4017A>G (p.Thr1339=)
NM_020937.4(FANCM):c.4023C>G (p.Leu1341=) rs1594800133
NM_020937.4(FANCM):c.4027A>G (p.Lys1343Glu) rs2139253150
NM_020937.4(FANCM):c.4029A>G (p.Lys1343=)
NM_020937.4(FANCM):c.4030T>C (p.Ser1344Pro) rs1888737260
NM_020937.4(FANCM):c.403G>A (p.Gly135Arg) rs1594750987
NM_020937.4(FANCM):c.4045T>A (p.Ser1349Thr)
NM_020937.4(FANCM):c.4054A>G (p.Lys1352Glu) rs1888737946
NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)
NM_020937.4(FANCM):c.4057A>T (p.Ile1353Leu)
NM_020937.4(FANCM):c.4060_4064del (p.Arg1354fs)
NM_020937.4(FANCM):c.4061G>A (p.Arg1354Lys) rs1302733474
NM_020937.4(FANCM):c.4068A>G (p.Glu1356=) rs1366630408
NM_020937.4(FANCM):c.4069A>G (p.Ile1357Val) rs1555365093
NM_020937.4(FANCM):c.4073T>C (p.Leu1358Pro)
NM_020937.4(FANCM):c.4084G>T (p.Asp1362Tyr)
NM_020937.4(FANCM):c.4088C>G (p.Ser1363Cys)
NM_020937.4(FANCM):c.4090A>G (p.Ser1364Gly)
NM_020937.4(FANCM):c.4096G>A (p.Glu1366Lys) rs2139253441
NM_020937.4(FANCM):c.4101dup (p.Val1368fs) rs747974206
NM_020937.4(FANCM):c.4103T>C (p.Val1368Ala) rs958088496
NM_020937.4(FANCM):c.4113A>G (p.Gln1371=) rs757705970
NM_020937.4(FANCM):c.4115G>T (p.Arg1372Ile) rs1888742620
NM_020937.4(FANCM):c.411G>T (p.Val137=)
NM_020937.4(FANCM):c.4121A>G (p.Lys1374Arg) rs1888743641
NM_020937.4(FANCM):c.4132A>C (p.Asn1378His) rs1594800247
NM_020937.4(FANCM):c.4143T>G (p.Phe1381Leu) rs2139253752
NM_020937.4(FANCM):c.4145A>G (p.Asp1382Gly) rs2139253766
NM_020937.4(FANCM):c.4145A>T (p.Asp1382Val)
NM_020937.4(FANCM):c.4148A>G (p.Tyr1383Cys)
NM_020937.4(FANCM):c.414C>G (p.Val138=) rs2139103448
NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter) rs776133776
NM_020937.4(FANCM):c.4161T>C (p.Ser1387=)
NM_020937.4(FANCM):c.4162C>G (p.Leu1388Val) rs769653358
NM_020937.4(FANCM):c.4162C>T (p.Leu1388=) rs769653358
NM_020937.4(FANCM):c.4163T>C (p.Leu1388Pro)
NM_020937.4(FANCM):c.4174A>G (p.Lys1392Glu)
NM_020937.4(FANCM):c.417C>T (p.Phe139=)
NM_020937.4(FANCM):c.4184G>T (p.Gly1395Val) rs1203349245
NM_020937.4(FANCM):c.4187_4189dup (p.Pro1396_Met1397insThr) rs1888747763
NM_020937.4(FANCM):c.4188A>G (p.Pro1396=) rs2139254003
NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter) rs1235515288
NM_020937.4(FANCM):c.419T>C (p.Met140Thr) rs1885514534
NM_020937.4(FANCM):c.420G>A (p.Met140Ile) rs1329485751
NM_020937.4(FANCM):c.4222+15T>C
NM_020937.4(FANCM):c.4222+15_4222+16insAT rs1177059971
NM_020937.4(FANCM):c.4222+16T>A rs753893593
NM_020937.4(FANCM):c.4222+19A>G
NM_020937.4(FANCM):c.4222+4A>C
NM_020937.4(FANCM):c.4223-15A>C rs2139269896
NM_020937.4(FANCM):c.4223-16A>T
NM_020937.4(FANCM):c.4223A>G (p.Asp1408Gly)
NM_020937.4(FANCM):c.4223A>T (p.Asp1408Val)
NM_020937.4(FANCM):c.4225G>A (p.Gly1409Arg)
NM_020937.4(FANCM):c.4231TTA[1] (p.Leu1412del) rs1889061790
NM_020937.4(FANCM):c.4246G>A (p.Glu1416Lys)
NM_020937.4(FANCM):c.424C>A (p.Pro142Thr)
NM_020937.4(FANCM):c.4261G>A (p.Glu1421Lys) rs886050502
NM_020937.4(FANCM):c.426A>C (p.Pro142=)
NM_020937.4(FANCM):c.4274G>A (p.Arg1425Lys) rs2139270169
NM_020937.4(FANCM):c.4277A>G (p.Lys1426Arg)
NM_020937.4(FANCM):c.4279_4283del (p.Val1427fs)
NM_020937.4(FANCM):c.427A>G (p.Thr143Ala)
NM_020937.4(FANCM):c.4281_4287del (p.Lys1428fs)
NM_020937.4(FANCM):c.4285del (p.Arg1429fs) rs1227066484
NM_020937.4(FANCM):c.4290A>C (p.Ala1430=)
NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)
NM_020937.4(FANCM):c.4304_4305insSVAelement
NM_020937.4(FANCM):c.4308C>T (p.Asn1436=)
NM_020937.4(FANCM):c.4317+15A>G
NM_020937.4(FANCM):c.4317+19_4317+46del
NM_020937.4(FANCM):c.4317+7C>G rs1411847222
NM_020937.4(FANCM):c.4317+8A>T rs2139270413
NM_020937.4(FANCM):c.4317+8_4317+16dup
NM_020937.4(FANCM):c.4318-13T>G
NM_020937.4(FANCM):c.4318-15A>G
NM_020937.4(FANCM):c.4318-16dup
NM_020937.4(FANCM):c.4318-2A>G
NM_020937.4(FANCM):c.4318-6C>T rs1594806015
NM_020937.4(FANCM):c.4318-7_4318-4del
NM_020937.4(FANCM):c.4318G>A (p.Asp1440Asn)
NM_020937.4(FANCM):c.4319A>G (p.Asp1440Gly) rs2139270979
NM_020937.4(FANCM):c.431A>C (p.Lys144Thr)
NM_020937.4(FANCM):c.4320T>G (p.Asp1440Glu) rs2139270994
NM_020937.4(FANCM):c.4329T>C (p.Asn1443=)
NM_020937.4(FANCM):c.4342T>A (p.Ser1448Thr)
NM_020937.4(FANCM):c.4346C>T (p.Pro1449Leu)
NM_020937.4(FANCM):c.4348C>T (p.Leu1450Phe)
NM_020937.4(FANCM):c.4352A>T (p.His1451Leu) rs572890751
NM_020937.4(FANCM):c.4353T>A (p.His1451Gln)
NM_020937.4(FANCM):c.4360A>G (p.Lys1454Glu)
NM_020937.4(FANCM):c.4367G>T (p.Arg1456Leu) rs749332566
NM_020937.4(FANCM):c.4380A>T (p.Ile1460=)
NM_020937.4(FANCM):c.4383C>G (p.Asn1461Lys)
NM_020937.4(FANCM):c.4386+13C>A
NM_020937.4(FANCM):c.4386+14A>G
NM_020937.4(FANCM):c.4386+16G>C
NM_020937.4(FANCM):c.4386+1G>A rs1889085249
NM_020937.4(FANCM):c.4386+2dup rs1889085424
NM_020937.4(FANCM):c.4387-12G>A rs776419214
NM_020937.4(FANCM):c.4387-16del
NM_020937.4(FANCM):c.4387-4A>G rs567206367
NM_020937.4(FANCM):c.4387-5_4387-3del rs1566775466
NM_020937.4(FANCM):c.4387-6T>C rs1889209053
NM_020937.4(FANCM):c.4387-8T>C rs1323174217
NM_020937.4(FANCM):c.438G>A (p.Leu146=)
NM_020937.4(FANCM):c.4391A>G (p.Glu1464Gly) rs1889210004
NM_020937.4(FANCM):c.4405G>T (p.Asp1469Tyr) rs1889211661
NM_020937.4(FANCM):c.4410G>A (p.Glu1470=)
NM_020937.4(FANCM):c.4410G>C (p.Glu1470Asp) rs534488351
NM_020937.4(FANCM):c.4425C>G (p.Pro1475=)
NM_020937.4(FANCM):c.443C>T (p.Thr148Ile)
NM_020937.4(FANCM):c.4447G>C (p.Asp1483His) rs1889215664
NM_020937.4(FANCM):c.444A>T (p.Thr148=)
NM_020937.4(FANCM):c.4454A>G (p.Lys1485Arg) rs2139278064
NM_020937.4(FANCM):c.4456del (p.Val1486fs) rs1478392446
NM_020937.4(FANCM):c.4461T>C (p.Cys1487=) rs2139278112
NM_020937.4(FANCM):c.4469A>G (p.Asn1490Ser)
NM_020937.4(FANCM):c.4473C>T (p.Ala1491=)
NM_020937.4(FANCM):c.4475_4485del (p.Arg1492fs)
NM_020937.4(FANCM):c.4477del (p.Arg1493fs) rs1889219103
NM_020937.4(FANCM):c.447_448delinsAG (p.Gln150Glu) rs1885518528
NM_020937.4(FANCM):c.4480G>T (p.Gly1494Cys) rs772085199
NM_020937.4(FANCM):c.4481G>A (p.Gly1494Asp) rs1889220204
NM_020937.4(FANCM):c.4486A>G (p.Lys1496Glu)
NM_020937.4(FANCM):c.4489G>A (p.Val1497Ile) rs369576101
NM_020937.4(FANCM):c.448C>T (p.Gln150Ter)
NM_020937.4(FANCM):c.4493C>G (p.Pro1498Arg)
NM_020937.4(FANCM):c.4498A>C (p.Arg1500=) rs890874156
NM_020937.4(FANCM):c.4501C>A (p.Gln1501Lys) rs755947203
NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)
NM_020937.4(FANCM):c.4504_4505del (p.His1503fs) rs1566775922
NM_020937.4(FANCM):c.4509C>T (p.His1503=) rs2139278586
NM_020937.4(FANCM):c.4515+11_4515+14del rs747887646
NM_020937.4(FANCM):c.4515+14del rs747887646
NM_020937.4(FANCM):c.4515+4A>G
NM_020937.4(FANCM):c.4515+6C>A
NM_020937.4(FANCM):c.4516-16A>C
NM_020937.4(FANCM):c.4516-5_4516-2del rs796584585
NM_020937.4(FANCM):c.4516-8T>C
NM_020937.4(FANCM):c.4517A>T (p.His1506Leu) rs775457463
NM_020937.4(FANCM):c.4524T>C (p.Ala1508=) rs1275446853
NM_020937.4(FANCM):c.4525A>C (p.Arg1509=)
NM_020937.4(FANCM):c.4527G>A (p.Arg1509=)
NM_020937.4(FANCM):c.4536A>C (p.Leu1512Phe)
NM_020937.4(FANCM):c.4545A>T (p.Glu1515Asp) rs1889323052
NM_020937.4(FANCM):c.4548A>G (p.Ala1516=) rs980940741
NM_020937.4(FANCM):c.454G>A (p.Glu152Lys) rs1885519043
NM_020937.4(FANCM):c.4552C>G (p.Leu1518Val)
NM_020937.4(FANCM):c.4552_4553insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGATGATGAAGCAGAAC (p.Glu1517_Leu1518insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspAspGluAlaGlu)
NM_020937.4(FANCM):c.4562A>T (p.Glu1521Val)
NM_020937.4(FANCM):c.4566T>C (p.Asp1522=) rs375131983
NM_020937.4(FANCM):c.4566T>G (p.Asp1522Glu) rs375131983
NM_020937.4(FANCM):c.4568C>A (p.Ala1523Glu)
NM_020937.4(FANCM):c.4568C>G (p.Ala1523Gly) rs960743288
NM_020937.4(FANCM):c.4573T>C (p.Tyr1525His)
NM_020937.4(FANCM):c.4574_4575del (p.Tyr1525fs)
NM_020937.4(FANCM):c.4576G>A (p.Val1526Ile) rs982820875
NM_020937.4(FANCM):c.457G>C (p.Ala153Pro)
NM_020937.4(FANCM):c.4582T>G (p.Ser1528Ala) rs1889328561
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn) rs1245071059
NM_020937.4(FANCM):c.4591A>G (p.Asn1531Asp)
NM_020937.4(FANCM):c.4593TGA[1] (p.Asp1532del)
NM_020937.4(FANCM):c.4594G>A (p.Asp1532Asn)
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter) rs1594810556
NM_020937.4(FANCM):c.4603G>C (p.Glu1535Gln)
NM_020937.4(FANCM):c.4608T>C (p.Asn1536=)
NM_020937.4(FANCM):c.4617T>C (p.Asp1539=)
NM_020937.4(FANCM):c.4619C>T (p.Ser1540Phe) rs1889332251
NM_020937.4(FANCM):c.4620C>G (p.Ser1540=)
NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer) rs1594810654
NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter)
NM_020937.4(FANCM):c.4641T>A (p.Asn1547Lys) rs932577451
NM_020937.4(FANCM):c.4643A>G (p.Asp1548Gly)
NM_020937.4(FANCM):c.4645G>A (p.Glu1549Lys)
NM_020937.4(FANCM):c.4648A>T (p.Thr1550Ser)
NM_020937.4(FANCM):c.4651C>G (p.Gln1551Glu) rs1889335215
NM_020937.4(FANCM):c.4654C>A (p.Leu1552Ile)
NM_020937.4(FANCM):c.4657T>G (p.Ser1553Ala) rs2139284324
NM_020937.4(FANCM):c.465C>T (p.Tyr155=) rs1885520790
NM_020937.4(FANCM):c.4661A>G (p.Gln1554Arg)
NM_020937.4(FANCM):c.4664C>G (p.Ala1555Gly) rs2139284354
NM_020937.4(FANCM):c.4665T>C (p.Ala1555=)
NM_020937.4(FANCM):c.4666A>G (p.Ile1556Val)
NM_020937.4(FANCM):c.4668A>G (p.Ile1556Met)
NM_020937.4(FANCM):c.466C>T (p.Gln156Ter) rs1885521004
NM_020937.4(FANCM):c.4672+10A>G
NM_020937.4(FANCM):c.4672+18C>A
NM_020937.4(FANCM):c.4672+6T>A
NM_020937.4(FANCM):c.4672+7G>C
NM_020937.4(FANCM):c.4672+8T>A
NM_020937.4(FANCM):c.4673-10C>T
NM_020937.4(FANCM):c.4673-12A>T
NM_020937.4(FANCM):c.4673-15C>G rs2139291737
NM_020937.4(FANCM):c.4673-1G>A
NM_020937.4(FANCM):c.4673-2A>C rs2139291763
NM_020937.4(FANCM):c.4673-5C>T
NM_020937.4(FANCM):c.4681A>G (p.Met1561Val) rs2139291810
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=) rs1889498706
NM_020937.4(FANCM):c.4691T>C (p.Ile1564Thr) rs1889499436
NM_020937.4(FANCM):c.46A>G (p.Ile16Val)
NM_020937.4(FANCM):c.4708C>A (p.Arg1570Ser) rs139376041
NM_020937.4(FANCM):c.4709G>T (p.Arg1570Leu)
NM_020937.4(FANCM):c.4721T>G (p.Met1574Arg)
NM_020937.4(FANCM):c.4725C>G (p.Asn1575Lys)
NM_020937.4(FANCM):c.4739T>G (p.Met1580Arg) rs1889503433
NM_020937.4(FANCM):c.4741A>G (p.Ile1581Val) rs1649188416
NM_020937.4(FANCM):c.474_479del (p.Met158_Gly159del)
NM_020937.4(FANCM):c.4758A>G (p.Lys1586=) rs2139292189
NM_020937.4(FANCM):c.4763T>C (p.Ile1588Thr) rs2139292209
NM_020937.4(FANCM):c.476G>C (p.Gly159Ala)
NM_020937.4(FANCM):c.4771T>A (p.Phe1591Ile) rs773152045
NM_020937.4(FANCM):c.4779+10A>G
NM_020937.4(FANCM):c.4779+10A>T
NM_020937.4(FANCM):c.4779+14A>T
NM_020937.4(FANCM):c.4779+16A>C
NM_020937.4(FANCM):c.4779+18A>G
NM_020937.4(FANCM):c.4779+1del rs764534989
NM_020937.4(FANCM):c.4779+5_4779+9del rs1889507289
NM_020937.4(FANCM):c.4779+6A>T
NM_020937.4(FANCM):c.4779+7A>T
NM_020937.4(FANCM):c.4780-10T>C
NM_020937.4(FANCM):c.4780-16T>C rs981677198
NM_020937.4(FANCM):c.4780-20T>G
NM_020937.4(FANCM):c.4780-2A>G rs1889569618
NM_020937.4(FANCM):c.4780-4G>A
NM_020937.4(FANCM):c.4780-4G>C rs1486453187
NM_020937.4(FANCM):c.4780-6T>C
NM_020937.4(FANCM):c.4780A>G (p.Ile1594Val)
NM_020937.4(FANCM):c.4805T>C (p.Leu1602Ser)
NM_020937.4(FANCM):c.4809G>A (p.Glu1603=) rs1209233923
NM_020937.4(FANCM):c.480C>T (p.Ile160=) rs753171718
NM_020937.4(FANCM):c.4810G>T (p.Asp1604Tyr)
NM_020937.4(FANCM):c.4812T>C (p.Asp1604=)
NM_020937.4(FANCM):c.4817T>C (p.Phe1606Ser)
NM_020937.4(FANCM):c.4821T>G (p.Cys1607Trp)
NM_020937.4(FANCM):c.4825G>A (p.Asp1609Asn)
NM_020937.4(FANCM):c.4850A>G (p.Gln1617Arg)
NM_020937.4(FANCM):c.4851A>G (p.Gln1617=)
NM_020937.4(FANCM):c.4857T>A (p.Ser1619Arg) rs1594814748
NM_020937.4(FANCM):c.4859A>G (p.Glu1620Gly) rs2139295530
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del) rs765421461
NM_020937.4(FANCM):c.486A>G (p.Gln162=)
NM_020937.4(FANCM):c.4884C>A (p.Asn1628Lys) rs1594814788
NM_020937.4(FANCM):c.4896T>C (p.Asp1632=)
NM_020937.4(FANCM):c.4901_4902delinsTT (p.Cys1634Phe)
NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)
NM_020937.4(FANCM):c.4934G>C (p.Arg1645Pro)
NM_020937.4(FANCM):c.4943T>G (p.Met1648Arg) rs766886760
NM_020937.4(FANCM):c.4951G>C (p.Glu1651Gln) rs752279370
NM_020937.4(FANCM):c.4954A>G (p.Met1652Val)
NM_020937.4(FANCM):c.4972G>C (p.Ala1658Pro) rs1889586772
NM_020937.4(FANCM):c.4979C>T (p.Ser1660Leu) rs547959452
NM_020937.4(FANCM):c.4981A>G (p.Lys1661Glu) rs1324848045
NM_020937.4(FANCM):c.4989A>G (p.Lys1663=) rs2139296164
NM_020937.4(FANCM):c.4999ATT[1] (p.Ile1668del)
NM_020937.4(FANCM):c.5001T>A (p.Ile1667=) rs1566782787
NM_020937.4(FANCM):c.5005T>C (p.Leu1669=) rs2139296234
NM_020937.4(FANCM):c.5008C>T (p.Pro1670Ser) rs1594814972
NM_020937.4(FANCM):c.5010A>C (p.Pro1670=)
NM_020937.4(FANCM):c.5022T>C (p.Ser1674=) rs1295913364
NM_020937.4(FANCM):c.5023GAG[2] (p.Glu1677del) rs750497256
NM_020937.4(FANCM):c.5028G>A (p.Glu1676=) rs1294591452
NM_020937.4(FANCM):c.5034C>A (p.Asn1678Lys)
NM_020937.4(FANCM):c.5037T>C (p.Asn1679=) rs2139296506
NM_020937.4(FANCM):c.5041A>G (p.Asn1681Asp) rs2139296522
NM_020937.4(FANCM):c.5044G>C (p.Asp1682His)
NM_020937.4(FANCM):c.5045A>C (p.Asp1682Ala) rs2139296568
NM_020937.4(FANCM):c.5045A>G (p.Asp1682Gly)
NM_020937.4(FANCM):c.5046T>G (p.Asp1682Glu) rs1302536129
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs) rs1566782962
NM_020937.4(FANCM):c.5059A>G (p.Asn1687Asp)
NM_020937.4(FANCM):c.505A>G (p.Thr169Ala)
NM_020937.4(FANCM):c.5062A>G (p.Ile1688Val)
NM_020937.4(FANCM):c.5068G>A (p.Val1690Ile) rs752352756
NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu) rs752352756
NM_020937.4(FANCM):c.5070T>C (p.Val1690=)
NM_020937.4(FANCM):c.5072A>G (p.Asn1691Ser) rs1594815120
NM_020937.4(FANCM):c.5078G>A (p.Ser1693Asn) rs528554660
NM_020937.4(FANCM):c.508+11C>T
NM_020937.4(FANCM):c.508+17T>C
NM_020937.4(FANCM):c.508+19A>G
NM_020937.4(FANCM):c.508+20T>C
NM_020937.4(FANCM):c.508+3A>G rs775341176
NM_020937.4(FANCM):c.508+5C>G rs886050497
NM_020937.4(FANCM):c.5088GAA[1] (p.Lys1697del) rs2139296928
NM_020937.4(FANCM):c.509-16T>C
NM_020937.4(FANCM):c.5095A>G (p.Lys1699Glu) rs2139296999
NM_020937.4(FANCM):c.5096A>G (p.Lys1699Arg)
NM_020937.4(FANCM):c.5097_5100del (p.Lys1699fs)
NM_020937.4(FANCM):c.5104G>C (p.Asp1702His)
NM_020937.4(FANCM):c.5104G>T (p.Asp1702Tyr) rs1033212754
NM_020937.4(FANCM):c.5107C>G (p.His1703Asp) rs367653310
NM_020937.4(FANCM):c.5107C>T (p.His1703Tyr)
NM_020937.4(FANCM):c.5118T>C (p.Asn1706=)
NM_020937.4(FANCM):c.511T>C (p.Ser171Pro) rs1885568109
NM_020937.4(FANCM):c.5120C>T (p.Ser1707Leu)
NM_020937.4(FANCM):c.5121A>G (p.Ser1707=)
NM_020937.4(FANCM):c.5122G>T (p.Val1708Leu) rs1566783242
NM_020937.4(FANCM):c.5141C>A (p.Ala1714Glu) rs139383231
NM_020937.4(FANCM):c.5147C>T (p.Ser1716Phe)
NM_020937.4(FANCM):c.5148C>A (p.Ser1716=) rs201043779
NM_020937.4(FANCM):c.5149A>C (p.Lys1717Gln)
NM_020937.4(FANCM):c.5156G>T (p.Arg1719Leu) rs760421586
NM_020937.4(FANCM):c.5166A>C (p.Pro1722=)
NM_020937.4(FANCM):c.5166A>G (p.Pro1722=) rs753430768
NM_020937.4(FANCM):c.516dup (p.Gln173fs) rs2139106255
NM_020937.4(FANCM):c.5177C>G (p.Pro1726Arg)
NM_020937.4(FANCM):c.5185A>G (p.Lys1729Glu)
NM_020937.4(FANCM):c.5193C>T (p.Ser1731=) rs1016481325
NM_020937.4(FANCM):c.5197C>G (p.Gln1733Glu) rs374587255
NM_020937.4(FANCM):c.5199G>A (p.Gln1733=) rs1555367253
NM_020937.4(FANCM):c.5199_5200del (p.Gln1733fs)
NM_020937.4(FANCM):c.51C>T (p.Ser17=) rs974750486
NM_020937.4(FANCM):c.5200A>G (p.Thr1734Ala) rs756631911
NM_020937.4(FANCM):c.5201del (p.Thr1734fs) rs2139297782
NM_020937.4(FANCM):c.5202A>T (p.Thr1734=)
NM_020937.4(FANCM):c.5233G>A (p.Val1745Ile)
NM_020937.4(FANCM):c.5237C>T (p.Ser1746Leu) rs1889613187
NM_020937.4(FANCM):c.5239G>C (p.Asp1747His)
NM_020937.4(FANCM):c.5249C>T (p.Pro1750Leu)
NM_020937.4(FANCM):c.525C>T (p.Ser175=) rs1594751744
NM_020937.4(FANCM):c.5260A>T (p.Asn1754Tyr)
NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)
NM_020937.4(FANCM):c.526A>C (p.Thr176Pro)
NM_020937.4(FANCM):c.5270A>G (p.Gln1757Arg)
NM_020937.4(FANCM):c.5277C>G (p.Thr1759=)
NM_020937.4(FANCM):c.5277C>T (p.Thr1759=) rs757298864
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala) rs540327722
NM_020937.4(FANCM):c.5282C>T (p.Pro1761Leu) rs1395216158
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg) rs747356020
NM_020937.4(FANCM):c.528C>A (p.Thr176=)
NM_020937.4(FANCM):c.5290A>G (p.Thr1764Ala) rs776417170
NM_020937.4(FANCM):c.5291C>T (p.Thr1764Ile) rs1889619711
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala) rs1386457912
NM_020937.4(FANCM):c.5297T>C (p.Val1766Ala) rs368109537
NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)
NM_020937.4(FANCM):c.5305C>G (p.Gln1769Glu) rs1277570500
NM_020937.4(FANCM):c.5313C>A (p.Asp1771Glu)
NM_020937.4(FANCM):c.5315_5316del (p.Asp1771_Cys1772insTer) rs1566783809
NM_020937.4(FANCM):c.5318G>C (p.Arg1773Thr) rs1594815624
NM_020937.4(FANCM):c.5327C>T (p.Pro1776Leu)
NM_020937.4(FANCM):c.5331T>C (p.Val1777=)
NM_020937.4(FANCM):c.5333C>T (p.Pro1778Leu) rs1212903067
NM_020937.4(FANCM):c.5340+10A>C
NM_020937.4(FANCM):c.5340+13G>T rs1566783918
NM_020937.4(FANCM):c.5340+19A>G
NM_020937.4(FANCM):c.5340+2T>C
NM_020937.4(FANCM):c.5340+4T>C
NM_020937.4(FANCM):c.5340delinsTGGAATCACT (p.Lys1780delinsAsnGlyIleThr) rs1889624694
NM_020937.4(FANCM):c.5341-10A>G rs900420318
NM_020937.4(FANCM):c.5341-3C>T rs1890043451
NM_020937.4(FANCM):c.5346T>C (p.Gly1782=)
NM_020937.4(FANCM):c.5348G>A (p.Ser1783Asn) rs997324391
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val) rs755563315
NM_020937.4(FANCM):c.5364_5367dup (p.Thr1790Ter) rs1324635932
NM_020937.4(FANCM):c.5367C>T (p.Ser1789=)
NM_020937.4(FANCM):c.5372C>T (p.Ser1791Leu)
NM_020937.4(FANCM):c.5375G>A (p.Gly1792Glu)
NM_020937.4(FANCM):c.5376G>A (p.Gly1792=)
NM_020937.4(FANCM):c.5380del (p.Ser1794fs) rs1890046687
NM_020937.4(FANCM):c.5387C>G (p.Ser1796Cys)
NM_020937.4(FANCM):c.5387C>T (p.Ser1796Phe) rs1275681669
NM_020937.4(FANCM):c.538del (p.Ile180fs) rs2139106358
NM_020937.4(FANCM):c.5396G>T (p.Arg1799Ile) rs996654030
NM_020937.4(FANCM):c.539T>C (p.Ile180Thr) rs2139106376
NM_020937.4(FANCM):c.5409T>A (p.Ala1803=)
NM_020937.4(FANCM):c.5415A>G (p.Thr1805=) rs1594481117
NM_020937.4(FANCM):c.541T>C (p.Trp181Arg) rs1885571765
NM_020937.4(FANCM):c.5424T>C (p.Ser1808=)
NM_020937.4(FANCM):c.5432T>A (p.Leu1811His)
NM_020937.4(FANCM):c.5434C>A (p.Pro1812Thr) rs3736772
NM_020937.4(FANCM):c.5436G>T (p.Pro1812=) rs377630399
NM_020937.4(FANCM):c.543G>T (p.Trp181Cys) rs749507878
NM_020937.4(FANCM):c.5443G>A (p.Gly1815Arg) rs766516817
NM_020937.4(FANCM):c.5444G>A (p.Gly1815Glu)
NM_020937.4(FANCM):c.5446A>T (p.Lys1816Ter) rs1594481199
NM_020937.4(FANCM):c.5447A>G (p.Lys1816Arg) rs2139319399
NM_020937.4(FANCM):c.5449G>A (p.Gly1817Arg)
NM_020937.4(FANCM):c.5452A>G (p.Thr1818Ala)
NM_020937.4(FANCM):c.5453C>T (p.Thr1818Ile)
NM_020937.4(FANCM):c.5456G>A (p.Cys1819Tyr)
NM_020937.4(FANCM):c.5466A>G (p.Val1822=) rs990911529
NM_020937.4(FANCM):c.546C>T (p.Cys182=)
NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter) rs1354153410
NM_020937.4(FANCM):c.5478A>C (p.Glu1826Asp) rs1890053191
NM_020937.4(FANCM):c.547_548delinsCTTA (p.Ser183fs)
NM_020937.4(FANCM):c.548G>A (p.Ser183Asn) rs961990525
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs) rs1566790465
NM_020937.4(FANCM):c.54A>G (p.Arg18=) rs1885467009
NM_020937.4(FANCM):c.5504C>T (p.Ser1835Phe)
NM_020937.4(FANCM):c.5508C>T (p.Ser1836=)
NM_020937.4(FANCM):c.5513G>A (p.Arg1838Lys)
NM_020937.4(FANCM):c.5523T>C (p.His1841=) rs753441608
NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)
NM_020937.4(FANCM):c.5532A>T (p.Gln1844His)
NM_020937.4(FANCM):c.5539G>T (p.Val1847Phe)
NM_020937.4(FANCM):c.5565C>T (p.Tyr1855=) rs745364887
NM_020937.4(FANCM):c.5568C>G (p.Ile1856Met)
NM_020937.4(FANCM):c.5578C>G (p.Arg1860Gly) rs139996409
NM_020937.4(FANCM):c.5584G>A (p.Val1862Met) rs1280753248
NM_020937.4(FANCM):c.5598G>A (p.Arg1866=) rs771248011
NM_020937.4(FANCM):c.5598G>T (p.Arg1866Ser)
NM_020937.4(FANCM):c.5600C>T (p.Ser1867Phe)
NM_020937.4(FANCM):c.5604A>G (p.Gln1868=) rs1271195801
NM_020937.4(FANCM):c.5605T>C (p.Ser1869Pro) rs1890063101
NM_020937.4(FANCM):c.5608G>A (p.Glu1870Lys)
NM_020937.4(FANCM):c.5612T>C (p.Met1871Thr)
NM_020937.4(FANCM):c.5613G>A (p.Met1871Ile) rs1890063687
NM_020937.4(FANCM):c.5624T>C (p.Val1875Ala)
NM_020937.4(FANCM):c.5628T>C (p.Asn1876=) rs1039452790
NM_020937.4(FANCM):c.5652C>A (p.Ile1884=)
NM_020937.4(FANCM):c.5658C>G (p.His1886Gln) rs1364697360
NM_020937.4(FANCM):c.5667T>G (p.Ser1889Arg)
NM_020937.4(FANCM):c.5669T>C (p.Met1890Thr) rs1392653043
NM_020937.4(FANCM):c.5672T>C (p.Phe1891Ser) rs1890067683
NM_020937.4(FANCM):c.5679A>T (p.Arg1893Ser) rs750143582
NM_020937.4(FANCM):c.567_568insGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGCAGACGGGAGAGGGAGAGGGAGACGGGAGCTTTTTTTGAGAGTGCTTTTTCTT (p.Thr190fs)
NM_020937.4(FANCM):c.5680A>G (p.Ile1894Val)
NM_020937.4(FANCM):c.5682A>G (p.Ile1894Met)
NM_020937.4(FANCM):c.5687_5688dup (p.Ile1897Ter)
NM_020937.4(FANCM):c.5692G>A (p.Val1898Met)
NM_020937.4(FANCM):c.5692G>T (p.Val1898Leu)
NM_020937.4(FANCM):c.569C>G (p.Thr190Arg)
NM_020937.4(FANCM):c.5703C>T (p.Asp1901=)
NM_020937.4(FANCM):c.5707_5708del (p.Glu1903fs)
NM_020937.4(FANCM):c.5713A>G (p.Thr1905Ala)
NM_020937.4(FANCM):c.5716+16T>C
NM_020937.4(FANCM):c.5716+23_5716+26del rs745329742
NM_020937.4(FANCM):c.5716+5G>A
NM_020937.4(FANCM):c.5716+6T>C
NM_020937.4(FANCM):c.5716+7A>G
NM_020937.4(FANCM):c.5717-10G>T rs939194173
NM_020937.4(FANCM):c.5717-18C>T
NM_020937.4(FANCM):c.5717-19C>T
NM_020937.4(FANCM):c.5729G>C (p.Arg1910Thr) rs1193767487
NM_020937.4(FANCM):c.572C>T (p.Pro191Leu) rs1555358635
NM_020937.4(FANCM):c.5732T>A (p.Met1911Lys) rs1346827067
NM_020937.4(FANCM):c.5741G>A (p.Arg1914Lys) rs1890202191
NM_020937.4(FANCM):c.5744C>A (p.Thr1915Lys) rs2139328014
NM_020937.4(FANCM):c.5747A>G (p.Lys1916Arg) rs908307807
NM_020937.4(FANCM):c.5749_5750del (p.Ser1917fs) rs1203346034
NM_020937.4(FANCM):c.5750G>A (p.Ser1917Asn)
NM_020937.4(FANCM):c.5760C>T (p.Ser1920=)
NM_020937.4(FANCM):c.5766_5769del (p.Thr1923fs)
NM_020937.4(FANCM):c.5769T>C (p.Thr1923=) rs775627849
NM_020937.4(FANCM):c.576G>A (p.Gln192=)
NM_020937.4(FANCM):c.5771C>T (p.Thr1924Ile)
NM_020937.4(FANCM):c.577G>T (p.Val193Phe)
NM_020937.4(FANCM):c.5781C>T (p.Gly1927=)
NM_020937.4(FANCM):c.5783C>A (p.Ala1928Asp)
NM_020937.4(FANCM):c.5805T>A (p.Ser1935Arg) rs1890206867
NM_020937.4(FANCM):c.5806T>A (p.Ser1936Thr)
NM_020937.4(FANCM):c.5811C>T (p.Cys1937=) rs2139328462
NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)
NM_020937.4(FANCM):c.5816A>G (p.Glu1939Gly) rs1890207596
NM_020937.4(FANCM):c.5821A>C (p.Thr1941Pro) rs2139328515
NM_020937.4(FANCM):c.5824G>T (p.Ala1942Ser) rs759078220
NM_020937.4(FANCM):c.5828A>G (p.Asp1943Gly)
NM_020937.4(FANCM):c.582G>A (p.Met194Ile)
NM_020937.4(FANCM):c.5835A>G (p.Leu1945=) rs752621594
NM_020937.4(FANCM):c.5839G>C (p.Glu1947Gln) rs1890209507
NM_020937.4(FANCM):c.583G>A (p.Val195Ile)
NM_020937.4(FANCM):c.5843T>A (p.Leu1948Gln)
NM_020937.4(FANCM):c.5844G>A (p.Leu1948=)
NM_020937.4(FANCM):c.5844G>C (p.Leu1948=)
NM_020937.4(FANCM):c.5853G>A (p.Val1951=)
NM_020937.4(FANCM):c.5864A>T (p.Lys1955Met)
NM_020937.4(FANCM):c.5870T>C (p.Val1957Ala) rs1890211851
NM_020937.4(FANCM):c.5872G>T (p.Gly1958Cys) rs1441113303
NM_020937.4(FANCM):c.5875A>G (p.Ile1959Val)
NM_020937.4(FANCM):c.5879A>G (p.His1960Arg)
NM_020937.4(FANCM):c.5888C>A (p.Thr1963Lys)
NM_020937.4(FANCM):c.5889A>G (p.Thr1963=)
NM_020937.4(FANCM):c.5890GTG[1] (p.Val1965del) rs769106934
NM_020937.4(FANCM):c.5901TAA[1] (p.Asn1968del) rs1890214050
NM_020937.4(FANCM):c.5903A>G (p.Asn1968Ser)
NM_020937.4(FANCM):c.5910T>G (p.Ser1970Arg) rs2139329050
NM_020937.4(FANCM):c.5914G>A (p.Ala1972Thr) rs2139329078
NM_020937.4(FANCM):c.5927A>G (p.Tyr1976Cys) rs1594486279
NM_020937.4(FANCM):c.5965A>C (p.Asn1989His)
NM_020937.4(FANCM):c.5989G>C (p.Val1997Leu) rs1890218222
NM_020937.4(FANCM):c.5997G>C (p.Arg1999Ser) rs1890218564
NM_020937.4(FANCM):c.6008+12G>A rs980668545
NM_020937.4(FANCM):c.6008+1G>A rs984955481
NM_020937.4(FANCM):c.6008+4T>C
NM_020937.4(FANCM):c.6008+9G>A rs2139329468
NM_020937.4(FANCM):c.6009-8T>C
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr) rs760258217
NM_020937.4(FANCM):c.6010T>C (p.Ser2004Pro)
NM_020937.4(FANCM):c.6016C>A (p.Gln2006Lys)
NM_020937.4(FANCM):c.6019G>A (p.Glu2007Lys) rs1890266228
NM_020937.4(FANCM):c.6026C>A (p.Ser2009Tyr)
NM_020937.4(FANCM):c.6028A>G (p.Met2010Val) rs776577985
NM_020937.4(FANCM):c.6030G>A (p.Met2010Ile) rs1890267290
NM_020937.4(FANCM):c.6038A>G (p.Gln2013Arg)
NM_020937.4(FANCM):c.6055G>C (p.Ala2019Pro) rs1890268255
NM_020937.4(FANCM):c.6058GAG[1] (p.Glu2021del) rs770012987
NM_020937.4(FANCM):c.605C>T (p.Ala202Val) rs1885579524
NM_020937.4(FANCM):c.6061G>A (p.Glu2021Lys)
NM_020937.4(FANCM):c.6065T>G (p.Ile2022Ser) rs2139331987
NM_020937.4(FANCM):c.6066C>G (p.Ile2022Met) rs2139331995
NM_020937.4(FANCM):c.6071_6076del (p.Arg2024_Tyr2025del) rs773456844
NM_020937.4(FANCM):c.6075T>A (p.Tyr2025Ter)
NM_020937.4(FANCM):c.6075T>G (p.Tyr2025Ter)
NM_020937.4(FANCM):c.6090T>C (p.Phe2030=)
NM_020937.4(FANCM):c.6092A>G (p.Asp2031Gly)
NM_020937.4(FANCM):c.6095T>A (p.Ile2032Lys)
NM_020937.4(FANCM):c.6102G>A (p.Met2034Ile) rs1890272153
NM_020937.4(FANCM):c.6117T>A (p.Leu2039=)
NM_020937.4(FANCM):c.6122_6125del (p.Gln2041fs)
NM_020937.4(FANCM):c.6135A>G (p.Lys2045=)
NM_020937.4(FANCM):c.6137C>A (p.Ser2046Tyr)
NM_020937.4(FANCM):c.6138T>C (p.Ser2046=) rs746677351
NM_020937.4(FANCM):c.6138T>G (p.Ser2046=) rs746677351
NM_020937.4(FANCM):c.6140_*8del (p.Asp2047fs) rs1594488249
NM_020937.4(FANCM):c.6143del (p.Ile2048fs)
NM_020937.4(FANCM):c.620A>T (p.Glu207Val) rs1885580819
NM_020937.4(FANCM):c.625A>C (p.Lys209Gln) rs1555358657
NM_020937.4(FANCM):c.632T>C (p.Leu211Ser) rs2139107015
NM_020937.4(FANCM):c.639T>C (p.Ile213=)
NM_020937.4(FANCM):c.642T>A (p.Asp214Glu) rs1885582744
NM_020937.4(FANCM):c.645A>T (p.Glu215Asp) rs1215370736
NM_020937.4(FANCM):c.656C>T (p.Ala219Val) rs1566718197
NM_020937.4(FANCM):c.660C>T (p.Leu220=)
NM_020937.4(FANCM):c.661G>A (p.Gly221Arg)
NM_020937.4(FANCM):c.666C>T (p.Asn222=) rs2139107219
NM_020937.4(FANCM):c.668A>G (p.Tyr223Cys) rs1594751903
NM_020937.4(FANCM):c.681+11T>G
NM_020937.4(FANCM):c.681+16A>G
NM_020937.4(FANCM):c.681+19G>A rs1423581956
NM_020937.4(FANCM):c.681+20G>T
NM_020937.4(FANCM):c.681+7A>C
NM_020937.4(FANCM):c.682-14T>G
NM_020937.4(FANCM):c.682-21_682-20delinsTG
NM_020937.4(FANCM):c.682-2A>G rs1885847871
NM_020937.4(FANCM):c.682-4T>C rs1566721529
NM_020937.4(FANCM):c.682-5T>G
NM_020937.4(FANCM):c.682-6del rs775413053
NM_020937.4(FANCM):c.682-6dup
NM_020937.4(FANCM):c.682-7del rs759364320
NM_020937.4(FANCM):c.682-7dup rs759364320
NM_020937.4(FANCM):c.684T>G (p.Val228=) rs1885848310
NM_020937.4(FANCM):c.695T>A (p.Leu232Gln) rs2139118252
NM_020937.4(FANCM):c.698T>C (p.Val233Ala) rs1885849616
NM_020937.4(FANCM):c.69G>C (p.Pro23=)
NM_020937.4(FANCM):c.705T>C (p.Tyr235=) rs567726889
NM_020937.4(FANCM):c.708_714del (p.Asn237fs) rs1885850135
NM_020937.4(FANCM):c.70G>C (p.Gly24Arg)
NM_020937.4(FANCM):c.710A>G (p.Asn237Ser) rs760977059
NM_020937.4(FANCM):c.710del (p.Asn237fs) rs1340295590
NM_020937.4(FANCM):c.717T>G (p.Phe239Leu) rs1365220972
NM_020937.4(FANCM):c.71G>T (p.Gly24Val) rs1885468827
NM_020937.4(FANCM):c.730C>G (p.Leu244Val) rs376357342
NM_020937.4(FANCM):c.730C>T (p.Leu244=) rs376357342
NM_020937.4(FANCM):c.734G>A (p.Ser245Asn)
NM_020937.4(FANCM):c.736G>A (p.Ala246Thr) rs2139118418
NM_020937.4(FANCM):c.746G>C (p.Gly249Ala) rs965199350
NM_020937.4(FANCM):c.748A>G (p.Ser250Gly) rs2139118486
NM_020937.4(FANCM):c.759+19C>T
NM_020937.4(FANCM):c.759+19dup
NM_020937.4(FANCM):c.759+2T>C rs902753970
NM_020937.4(FANCM):c.759+2dup rs1885856344
NM_020937.4(FANCM):c.75C>T (p.Cys25=) rs1885469049
NM_020937.4(FANCM):c.760-19C>T rs2139151206
NM_020937.4(FANCM):c.760-19_760-16del
NM_020937.4(FANCM):c.760-4A>G rs1886615518
NM_020937.4(FANCM):c.760-6A>G rs2139151266
NM_020937.4(FANCM):c.760G>A (p.Ala254Thr)
NM_020937.4(FANCM):c.760G>T (p.Ala254Ser)
NM_020937.4(FANCM):c.778A>G (p.Thr260Ala) rs1886617707
NM_020937.4(FANCM):c.784C>T (p.Leu262=) rs574219989
NM_020937.4(FANCM):c.786G>A (p.Leu262=)
NM_020937.4(FANCM):c.787C>A (p.Leu263Ile) rs1594766754
NM_020937.4(FANCM):c.78C>T (p.Ser26=)
NM_020937.4(FANCM):c.790A>G (p.Ile264Val)
NM_020937.4(FANCM):c.799A>G (p.Ile267Val)
NM_020937.4(FANCM):c.80C>T (p.Ser27Phe) rs1885469771
NM_020937.4(FANCM):c.815A>T (p.Glu272Val) rs1456725108
NM_020937.4(FANCM):c.818A>T (p.Asp273Val)
NM_020937.4(FANCM):c.81C>T (p.Ser27=) rs1388168603
NM_020937.4(FANCM):c.81del (p.Gly28fs) rs2139099848
NM_020937.4(FANCM):c.821C>A (p.Ser274Tyr)
NM_020937.4(FANCM):c.825A>G (p.Pro275=)
NM_020937.4(FANCM):c.830T>C (p.Ile277Thr)
NM_020937.4(FANCM):c.836C>T (p.Thr279Ile) rs556857964
NM_020937.4(FANCM):c.83G>T (p.Gly28Val) rs1885470299
NM_020937.4(FANCM):c.844C>T (p.His282Tyr) rs955969135
NM_020937.4(FANCM):c.845A>C (p.His282Pro)
NM_020937.4(FANCM):c.851G>A (p.Arg284Lys) rs1886623846
NM_020937.4(FANCM):c.853A>G (p.Lys285Glu) rs1428587779
NM_020937.4(FANCM):c.855del (p.Val286fs) rs2139151883
NM_020937.4(FANCM):c.865C>G (p.Leu289Val) rs1594766833
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer)
NM_020937.4(FANCM):c.866T>C (p.Leu289Pro) rs1594766838
NM_020937.4(FANCM):c.871G>A (p.Val291Ile) rs1566732276
NM_020937.4(FANCM):c.874C>A (p.Pro292Thr) rs142747831
NM_020937.4(FANCM):c.876G>A (p.Pro292=) rs150757891
NM_020937.4(FANCM):c.876G>T (p.Pro292=) rs150757891
NM_020937.4(FANCM):c.877C>T (p.Leu293Phe) rs1886627288
NM_020937.4(FANCM):c.888A>G (p.Glu296=)
NM_020937.4(FANCM):c.893C>T (p.Ala298Val) rs1316547284
NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)
NM_020937.4(FANCM):c.903A>G (p.Gln301=)
NM_020937.4(FANCM):c.908C>A (p.Thr303Asn) rs980293400
NM_020937.4(FANCM):c.909_910del (p.Ile305fs) rs1886630094
NM_020937.4(FANCM):c.912T>C (p.Tyr304=) rs2139152230
NM_020937.4(FANCM):c.915C>T (p.Ile305=)
NM_020937.4(FANCM):c.918+12_918+13del
NM_020937.4(FANCM):c.918+17A>G
NM_020937.4(FANCM):c.918+8A>G rs917973556
NM_020937.4(FANCM):c.919-19A>G
NM_020937.4(FANCM):c.920T>C (p.Ile307Thr) rs2139159942
NM_020937.4(FANCM):c.924G>A (p.Leu308=) rs756513033
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys) rs372710600
NM_020937.4(FANCM):c.938G>T (p.Arg313Leu) rs767487612
NM_020937.4(FANCM):c.941C>G (p.Ser314Cys) rs774801698
NM_020937.4(FANCM):c.956A>G (p.Asn319Ser)
NM_020937.4(FANCM):c.958G>A (p.Val320Ile)
NM_020937.4(FANCM):c.95C>T (p.Pro32Leu)
NM_020937.4(FANCM):c.964A>T (p.Met322Leu) rs1886810282
NM_020937.4(FANCM):c.971G>C (p.Arg324Thr) rs2139160191
NM_020937.4(FANCM):c.972G>C (p.Arg324Ser) rs1886810472
NM_020937.4(FANCM):c.989C>T (p.Thr330Ile) rs759774206
NM_020937.4(FANCM):c.98A>C (p.Gln33Pro)
NM_020937.4(FANCM):c.991A>G (p.Lys331Glu)
NM_020937.4(FANCM):c.993A>G (p.Lys331=)
NM_020937.4(FANCM):c.998A>G (p.Gln333Arg) rs922819033
NM_020937.4(FANCM):c.9A>G (p.Gly3=) rs2139099234
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs) rs781400776
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe) rs73073594
NM_021922.3(FANCE):c.*225T>C rs1767848319
NM_021922.3(FANCE):c.*63C>T rs1767839821
NM_021922.3(FANCE):c.*729A>G rs886061334
NM_021922.3(FANCE):c.-162G>C rs979441521
NM_021922.3(FANCE):c.-182G>A rs886061324
NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del) rs2150885287
NM_021922.3(FANCE):c.-32A>T rs1767142098
NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro) rs886061330
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1014C>A (p.Asp338Glu)
NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser)
NM_021922.3(FANCE):c.1023C>T (p.Leu341=) rs1767435236
NM_021922.3(FANCE):c.1029G>A (p.Arg343=)
NM_021922.3(FANCE):c.1031T>A (p.Leu344His) rs2150894790
NM_021922.3(FANCE):c.1036A>C (p.Thr346Pro) rs1767436675
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)
NM_021922.3(FANCE):c.1043T>C (p.Leu348Pro)
NM_021922.3(FANCE):c.1044G>A (p.Leu348=)
NM_021922.3(FANCE):c.1049C>A (p.Ala350Asp)
NM_021922.3(FANCE):c.1051C>G (p.Leu351Val)
NM_021922.3(FANCE):c.1057C>G (p.Pro353Ala) rs878855070
NM_021922.3(FANCE):c.1058C>T (p.Pro353Leu) rs587778339
NM_021922.3(FANCE):c.105G>A (p.Ala35=)
NM_021922.3(FANCE):c.105G>C (p.Ala35=)
NM_021922.3(FANCE):c.1066A>G (p.Ser356Gly) rs1767439057
NM_021922.3(FANCE):c.1068C>T (p.Ser356=)
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser)
NM_021922.3(FANCE):c.1087C>T (p.Leu363=)
NM_021922.3(FANCE):c.108G>T (p.Gly36=)
NM_021922.3(FANCE):c.1094G>A (p.Arg365Lys) rs1767440781
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1113+10T>C
NM_021922.3(FANCE):c.1113+11T>C
NM_021922.3(FANCE):c.1113+15A>T
NM_021922.3(FANCE):c.1113+1G>A rs2150895088
NM_021922.3(FANCE):c.1113+20C>T
NM_021922.3(FANCE):c.1113+2T>A
NM_021922.3(FANCE):c.1113+6T>C rs764119752
NM_021922.3(FANCE):c.1114-11G>T
NM_021922.3(FANCE):c.1114-16T>G rs2150896195
NM_021922.3(FANCE):c.1114-17C>T
NM_021922.3(FANCE):c.1114-17del
NM_021922.3(FANCE):c.1114-3T>C
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA rs1767491456
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro) rs113175592
NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)
NM_021922.3(FANCE):c.1131C>A (p.Ser377=)
NM_021922.3(FANCE):c.1136C>G (p.Ala379Gly) rs1233194875
NM_021922.3(FANCE):c.1139C>T (p.Ser380Phe)
NM_021922.3(FANCE):c.1141C>G (p.Arg381Gly)
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs) rs2150896309
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro) rs2150896332
NM_021922.3(FANCE):c.1155T>C (p.Thr385=)
NM_021922.3(FANCE):c.1158C>A (p.Ala386=)
NM_021922.3(FANCE):c.1164C>T (p.Thr388=) rs2150896392
NM_021922.3(FANCE):c.1176C>G (p.Ala392=) rs1581704152
NM_021922.3(FANCE):c.1176C>T (p.Ala392=)
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
NM_021922.3(FANCE):c.1182T>C (p.Tyr394=)
NM_021922.3(FANCE):c.1189C>G (p.Pro397Ala) rs759782690
NM_021922.3(FANCE):c.118G>C (p.Ala40Pro) rs2150885696
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly)
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe) rs1256696675
NM_021922.3(FANCE):c.1206C>T (p.Leu402=)
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp) rs1767153896
NM_021922.3(FANCE):c.1221C>G (p.Leu407=) rs752130850
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp) rs1767499219
NM_021922.3(FANCE):c.1237+14C>T
NM_021922.3(FANCE):c.1237+18C>T
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.1237+20C>T
NM_021922.3(FANCE):c.1237+7C>T
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser) rs757769907
NM_021922.3(FANCE):c.1238-13del
NM_021922.3(FANCE):c.1238-2A>C
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
NM_021922.3(FANCE):c.1254G>A (p.Glu418=)
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp)
NM_021922.3(FANCE):c.1258C>T (p.Leu420=)
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
NM_021922.3(FANCE):c.1260G>T (p.Leu420=)
NM_021922.3(FANCE):c.1260_1268del (p.Cys421_Leu423del) rs2150897160
NM_021922.3(FANCE):c.1262G>A (p.Cys421Tyr) rs936988373
NM_021922.3(FANCE):c.1263T>C (p.Cys421=) rs747692546
NM_021922.3(FANCE):c.1266C>T (p.Cys422=)
NM_021922.3(FANCE):c.1270G>T (p.Val424Leu) rs2150897194
NM_021922.3(FANCE):c.1276A>G (p.Met426Val) rs764652720
NM_021922.3(FANCE):c.127G>A (p.Gly43Ser) rs892819655
NM_021922.3(FANCE):c.1283C>G (p.Ser428Cys)
NM_021922.3(FANCE):c.1284C>G (p.Ser428=)
NM_021922.3(FANCE):c.128G>T (p.Gly43Val) rs1767154137
NM_021922.3(FANCE):c.1296T>C (p.Asp432=)
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr)
NM_021922.3(FANCE):c.12G>A (p.Pro4=) rs2150885362
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg) rs2150897316
NM_021922.3(FANCE):c.1316+13G>A
NM_021922.3(FANCE):c.1316+20T>C rs2150897379
NM_021922.3(FANCE):c.1317-18A>G
NM_021922.3(FANCE):c.1317-1G>A
NM_021922.3(FANCE):c.1317-7T>C
NM_021922.3(FANCE):c.1317-9G>A
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg)
NM_021922.3(FANCE):c.1332G>A (p.Leu444=)
NM_021922.3(FANCE):c.1336T>C (p.Trp446Arg) rs1554122137
NM_021922.3(FANCE):c.1343A>C (p.Glu448Ala) rs2150898436
NM_021922.3(FANCE):c.1344G>A (p.Glu448=)
NM_021922.3(FANCE):c.134G>A (p.Gly45Glu)
NM_021922.3(FANCE):c.134G>T (p.Gly45Val)
NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu)
NM_021922.3(FANCE):c.1353C>T (p.Phe451=) rs2150898463
NM_021922.3(FANCE):c.1354T>C (p.Leu452=)
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu)
NM_021922.3(FANCE):c.1359G>A (p.Val453=)
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)
NM_021922.3(FANCE):c.1363del (p.Gln455fs) rs1767552099
NM_021922.3(FANCE):c.1371C>T (p.Leu457=)
NM_021922.3(FANCE):c.1372C>G (p.Leu458Val)
NM_021922.3(FANCE):c.1374A>G (p.Leu458=)
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly) rs200535245
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp) rs200535245
NM_021922.3(FANCE):c.1379G>A (p.Arg460Gln)
NM_021922.3(FANCE):c.1379G>T (p.Arg460Leu) rs541746126
NM_021922.3(FANCE):c.1383+10C>T rs1060504374
NM_021922.3(FANCE):c.1383+12G>T
NM_021922.3(FANCE):c.1383+13C>T
NM_021922.3(FANCE):c.1383+15C>G rs1426965534
NM_021922.3(FANCE):c.1383+16T>C
NM_021922.3(FANCE):c.1383+17G>A
NM_021922.3(FANCE):c.1383+17G>C
NM_021922.3(FANCE):c.1383+20dup rs770300367
NM_021922.3(FANCE):c.1383+2T>C
NM_021922.3(FANCE):c.1383+6C>G rs763606597
NM_021922.3(FANCE):c.1383+8G>C
NM_021922.3(FANCE):c.1384-10A>T rs2150901325
NM_021922.3(FANCE):c.1384-16C>A
NM_021922.3(FANCE):c.1384-19C>T
NM_021922.3(FANCE):c.138G>A (p.Val46=) rs2150885789
NM_021922.3(FANCE):c.1390A>G (p.Met464Val)
NM_021922.3(FANCE):c.1392G>T (p.Met464Ile) rs759978029
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile) rs1767643426
NM_021922.3(FANCE):c.1398T>C (p.Pro466=)
NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)
NM_021922.3(FANCE):c.1404G>T (p.Lys468Asn)
NM_021922.3(FANCE):c.1413C>T (p.Val471=)
NM_021922.3(FANCE):c.141C>T (p.Leu47=)
NM_021922.3(FANCE):c.1428C>T (p.Leu476=)
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu) rs1242729665
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
NM_021922.3(FANCE):c.1440G>T (p.Gly480=) rs757745455
NM_021922.3(FANCE):c.1452C>G (p.Thr484=)
NM_021922.3(FANCE):c.1455C>T (p.Thr485=)
NM_021922.3(FANCE):c.1459A>G (p.Met487Val) rs373735272
NM_021922.3(FANCE):c.145G>C (p.Ala49Pro) rs1225225979
NM_021922.3(FANCE):c.1464C>G (p.Ala488=)
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe) rs1345207143
NM_021922.3(FANCE):c.1476C>T (p.Leu492=)
NM_021922.3(FANCE):c.1478T>C (p.Met493Thr) rs979790377
NM_021922.3(FANCE):c.1484C>T (p.Thr495Ile) rs1442055811
NM_021922.3(FANCE):c.1486G>A (p.Val496Met) rs2150901627
NM_021922.3(FANCE):c.1488G>A (p.Val496=)
NM_021922.3(FANCE):c.1494C>T (p.Thr498=)
NM_021922.3(FANCE):c.1497G>C (p.Lys499Asn) rs2150901647
NM_021922.3(FANCE):c.149T>C (p.Leu50Pro) rs1767156443
NM_021922.3(FANCE):c.14A>T (p.Asp5Val) rs1767146702
NM_021922.3(FANCE):c.1501C>T (p.Gln501Ter) rs746321808
NM_021922.3(FANCE):c.1507A>T (p.Asn503Tyr) rs2150901658
NM_021922.3(FANCE):c.1509+13A>G
NM_021922.3(FANCE):c.1509+14G>A
NM_021922.3(FANCE):c.1509+14G>C
NM_021922.3(FANCE):c.1509+16G>T rs2150901703
NM_021922.3(FANCE):c.1509+17C>A rs748424208
NM_021922.3(FANCE):c.1509+3G>A rs773938335
NM_021922.3(FANCE):c.1509+7A>G rs1021695027
NM_021922.3(FANCE):c.1509+8T>G
NM_021922.3(FANCE):c.1510-10T>G
NM_021922.3(FANCE):c.1510-13T>A
NM_021922.3(FANCE):c.1510-15T>C
NM_021922.3(FANCE):c.1510-17T>C
NM_021922.3(FANCE):c.1510-6C>T
NM_021922.3(FANCE):c.1510-9T>C rs369210475
NM_021922.3(FANCE):c.1512C>T (p.Ile504=)
NM_021922.3(FANCE):c.1515T>C (p.Thr505=)
NM_021922.3(FANCE):c.1518G>A (p.Glu506=)
NM_021922.3(FANCE):c.1519A>G (p.Thr507Ala)
NM_021922.3(FANCE):c.1528C>G (p.Leu510Val)
NM_021922.3(FANCE):c.1531G>T (p.Gly511Cys)
NM_021922.3(FANCE):c.153C>T (p.Gly51=)
NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr) rs373712711
NM_021922.3(FANCE):c.157C>T (p.Arg53Cys)
NM_021922.3(FANCE):c.1582A>C (p.Lys528Gln) rs767896075
NM_021922.3(FANCE):c.1587C>T (p.Ala529=)
NM_021922.3(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.3(FANCE):c.1594A>T (p.Lys532Ter)
NM_021922.3(FANCE):c.1598A>T (p.His533Leu)
NM_021922.3(FANCE):c.159C>G (p.Arg53=)
NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)
NM_021922.3(FANCE):c.1600T>C (p.Leu534=)
NM_021922.3(FANCE):c.1606C>G (p.Pro536Ala) rs1060501873
NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg) rs1767835596
NM_021922.3(FANCE):c.1608C>T (p.Pro536=)
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?) rs1767835895
NM_021922.3(FANCE):c.162C>T (p.Gly54=)
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter) rs2150885915
NM_021922.3(FANCE):c.169C>A (p.Pro57Thr) rs1561787173
NM_021922.3(FANCE):c.169C>T (p.Pro57Ser) rs1561787173
NM_021922.3(FANCE):c.174C>T (p.Phe58=)
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr) rs1581696567
NM_021922.3(FANCE):c.181G>C (p.Gly61Arg) rs2150885964
NM_021922.3(FANCE):c.189G>T (p.Leu63Phe) rs2150885989
NM_021922.3(FANCE):c.18G>T (p.Ala6=) rs962145261
NM_021922.3(FANCE):c.192C>G (p.Leu64=)
NM_021922.3(FANCE):c.199C>T (p.Leu67=) rs1161408735
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro) rs1767159493
NM_021922.3(FANCE):c.207G>T (p.Arg69=)
NM_021922.3(FANCE):c.209del (p.Glu70fs)
NM_021922.3(FANCE):c.216G>A (p.Pro72=)
NM_021922.3(FANCE):c.221T>C (p.Val74Ala)
NM_021922.3(FANCE):c.222G>C (p.Val74=) rs1015415361
NM_021922.3(FANCE):c.222G>T (p.Val74=) rs1015415361
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro) rs1309426375
NM_021922.3(FANCE):c.229C>T (p.Pro77Ser) rs587778335
NM_021922.3(FANCE):c.22C>T (p.Leu8Phe)
NM_021922.3(FANCE):c.239G>A (p.Arg80His) rs1243363612
NM_021922.3(FANCE):c.248+11G>A
NM_021922.3(FANCE):c.248+11G>C
NM_021922.3(FANCE):c.248+13C>T
NM_021922.3(FANCE):c.248+14C>A
NM_021922.3(FANCE):c.248+19C>T
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.248+1G>T
NM_021922.3(FANCE):c.248+2T>C rs1581696699
NM_021922.3(FANCE):c.248T>C (p.Leu83Pro) rs1767163490
NM_021922.3(FANCE):c.249-11C>A
NM_021922.3(FANCE):c.249-18T>C
NM_021922.3(FANCE):c.249G>T (p.Leu83=)
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
NM_021922.3(FANCE):c.256C>G (p.Leu86Val)
NM_021922.3(FANCE):c.257T>C (p.Leu86Pro)
NM_021922.3(FANCE):c.259T>C (p.Leu87=)
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr) rs956659254
NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)
NM_021922.3(FANCE):c.265C>A (p.Arg89=)
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln) rs45600543
NM_021922.3(FANCE):c.266G>C (p.Arg89Pro) rs45600543
NM_021922.3(FANCE):c.273C>T (p.Pro91=)
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu) rs1767301656
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)
NM_021922.3(FANCE):c.29G>A (p.Gly10Glu)
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del) rs755938406
NM_021922.3(FANCE):c.304C>T (p.Leu102=)
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG rs2150889955
NM_021922.3(FANCE):c.313G>A (p.Val105Ile) rs373159305
NM_021922.3(FANCE):c.313G>C (p.Val105Leu) rs373159305
NM_021922.3(FANCE):c.318G>A (p.Arg106=)
NM_021922.3(FANCE):c.325C>T (p.Leu109=)
NM_021922.3(FANCE):c.334del (p.Ser112fs) rs1479445348
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_021922.3(FANCE):c.342C>T (p.Leu114=)
NM_021922.3(FANCE):c.345C>T (p.Leu115=)
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.351G>A (p.Val117=)
NM_021922.3(FANCE):c.358A>G (p.Ile120Val) rs201961713
NM_021922.3(FANCE):c.363C>G (p.Ala121=)
NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)
NM_021922.3(FANCE):c.373C>T (p.Leu125=)
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.387A>T (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His) rs2150890289
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)
NM_021922.3(FANCE):c.398T>C (p.Leu133Pro)
NM_021922.3(FANCE):c.39C>T (p.Gly13=)
NM_021922.3(FANCE):c.405C>T (p.Ala135=) rs1767311517
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)
NM_021922.3(FANCE):c.415T>C (p.Leu139=)
NM_021922.3(FANCE):c.421C>A (p.Arg141=)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.422G>A (p.Arg141Gln)
NM_021922.3(FANCE):c.426G>A (p.Arg142=)
NM_021922.3(FANCE):c.430T>C (p.Leu144=) rs1377892215
NM_021922.3(FANCE):c.435G>C (p.Gly145=)
NM_021922.3(FANCE):c.436del (p.Val146fs) rs1767313373
NM_021922.3(FANCE):c.438G>A (p.Val146=)
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu) rs1220564322
NM_021922.3(FANCE):c.444C>G (p.Thr148=)
NM_021922.3(FANCE):c.447C>G (p.Ser149=)
NM_021922.3(FANCE):c.448A>G (p.Met150Val) rs1489457999
NM_021922.3(FANCE):c.456A>C (p.Gly152=)
NM_021922.3(FANCE):c.461C>T (p.Ser154Phe) rs1016962570
NM_021922.3(FANCE):c.463C>G (p.Pro155Ala) rs2150890589
NM_021922.3(FANCE):c.463C>T (p.Pro155Ser) rs2150890589
NM_021922.3(FANCE):c.465A>G (p.Pro155=)
NM_021922.3(FANCE):c.465A>T (p.Pro155=)
NM_021922.3(FANCE):c.477A>G (p.Arg159=)
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter) rs45509302
NM_021922.3(FANCE):c.487C>A (p.Gln163Lys) rs1767316578
NM_021922.3(FANCE):c.491T>C (p.Leu164Pro) rs1767316710
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.3(FANCE):c.4_13del (p.Ala2fs)
NM_021922.3(FANCE):c.505del (p.Arg169fs)
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
NM_021922.3(FANCE):c.519G>A (p.Leu173=)
NM_021922.3(FANCE):c.519G>C (p.Leu173=)
NM_021922.3(FANCE):c.519G>T (p.Leu173=)
NM_021922.3(FANCE):c.51G>T (p.Ala17=)
NM_021922.3(FANCE):c.521G>T (p.Gly174Val) rs1014679374
NM_021922.3(FANCE):c.524del (p.Gly175fs) rs773363446
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.525C>T (p.Gly175=)
NM_021922.3(FANCE):c.531G>A (p.Arg177=)
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.539C>G (p.Ser180Cys)
NM_021922.3(FANCE):c.541C>T (p.Pro181Ser)
NM_021922.3(FANCE):c.542C>T (p.Pro181Leu) rs1767323169
NM_021922.3(FANCE):c.543C>G (p.Pro181=)
NM_021922.3(FANCE):c.54C>T (p.Pro18=)
NM_021922.3(FANCE):c.551C>A (p.Pro184Gln) rs373268808
NM_021922.3(FANCE):c.552A>G (p.Pro184=)
NM_021922.3(FANCE):c.561A>G (p.Glu187=) rs1554121329
NM_021922.3(FANCE):c.564A>G (p.Glu188=)
NM_021922.3(FANCE):c.567G>A (p.Glu189=)
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu) rs2150891086
NM_021922.3(FANCE):c.597A>G (p.Lys199=)
NM_021922.3(FANCE):c.59C>A (p.Ala20Glu)
NM_021922.3(FANCE):c.5C>T (p.Ala2Val)
NM_021922.3(FANCE):c.600C>T (p.Arg200=)
NM_021922.3(FANCE):c.614_615del (p.Glu205fs)
NM_021922.3(FANCE):c.618A>G (p.Glu206=)
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys)
NM_021922.3(FANCE):c.627C>G (p.Ala209=)
NM_021922.3(FANCE):c.635del (p.Glu212fs)
NM_021922.3(FANCE):c.636G>A (p.Glu212=)
NM_021922.3(FANCE):c.642G>A (p.Lys214=)
NM_021922.3(FANCE):c.663G>T (p.Arg221=)
NM_021922.3(FANCE):c.677A>C (p.Glu226Ala) rs2150891378
NM_021922.3(FANCE):c.679G>A (p.Glu227Lys) rs1287242303
NM_021922.3(FANCE):c.691_693del (p.Lys231del) rs1767333988
NM_021922.3(FANCE):c.698G>A (p.Arg233Lys)
NM_021922.3(FANCE):c.702C>G (p.Pro234=)
NM_021922.3(FANCE):c.702C>T (p.Pro234=)
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys)
NM_021922.3(FANCE):c.711G>A (p.Lys237=)
NM_021922.3(FANCE):c.71C>A (p.Ala24Asp) rs1045892220
NM_021922.3(FANCE):c.720A>G (p.Glu240=)
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe) rs933204286
NM_021922.3(FANCE):c.723C>T (p.Ser241=)
NM_021922.3(FANCE):c.726G>A (p.Leu242=)
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_021922.3(FANCE):c.740G>A (p.Ser247Asn) rs1767336620
NM_021922.3(FANCE):c.742G>A (p.Ala248Thr) rs1330517530
NM_021922.3(FANCE):c.743C>T (p.Ala248Val) rs1767337048
NM_021922.3(FANCE):c.746C>T (p.Ser249Phe) rs1036490024
NM_021922.3(FANCE):c.74C>T (p.Pro25Leu)
NM_021922.3(FANCE):c.751A>G (p.Ile251Val)
NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)
NM_021922.3(FANCE):c.756G>A (p.Lys252=)
NM_021922.3(FANCE):c.759C>T (p.Asp253=) rs200243667
NM_021922.3(FANCE):c.75C>T (p.Pro25=)
NM_021922.3(FANCE):c.75_98del (p.Ala26_Leu33del)
NM_021922.3(FANCE):c.768C>T (p.Val256=)
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
NM_021922.3(FANCE):c.777T>G (p.Val259=)
NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp)
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu)
NM_021922.3(FANCE):c.798G>T (p.Ser266=) rs746542545
NM_021922.3(FANCE):c.807T>C (p.Asp269=)
NM_021922.3(FANCE):c.812C>T (p.Ala271Val) rs1060501874
NM_021922.3(FANCE):c.813T>C (p.Ala271=)
NM_021922.3(FANCE):c.818G>T (p.Gly273Val) rs1468356265
NM_021922.3(FANCE):c.823G>A (p.Ala275Thr)
NM_021922.3(FANCE):c.832T>C (p.Leu278=)
NM_021922.3(FANCE):c.836del (p.Glu279fs)
NM_021922.3(FANCE):c.838T>C (p.Leu280=)
NM_021922.3(FANCE):c.855+17A>T
NM_021922.3(FANCE):c.855+18C>G
NM_021922.3(FANCE):c.855+4C>G
NM_021922.3(FANCE):c.855+8G>A
NM_021922.3(FANCE):c.855+9G>A
NM_021922.3(FANCE):c.856-11C>T
NM_021922.3(FANCE):c.856-14G>T
NM_021922.3(FANCE):c.856-18C>T
NM_021922.3(FANCE):c.856-20G>T
NM_021922.3(FANCE):c.856-6C>T
NM_021922.3(FANCE):c.856-7T>C
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln) rs2150885592
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg) rs1767398617
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg)
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)
NM_021922.3(FANCE):c.880C>T (p.Leu294=)
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
NM_021922.3(FANCE):c.88CTGCAGGCG[1] (p.30LQA[1]) rs780106496
NM_021922.3(FANCE):c.88CTGCAGGCG[3] (p.Ala35_Gly36insLeuGlnAla)
NM_021922.3(FANCE):c.892T>A (p.Leu298Met)
NM_021922.3(FANCE):c.897G>A (p.Glu299=) rs2150893491
NM_021922.3(FANCE):c.901-10G>A
NM_021922.3(FANCE):c.901-15G>C
NM_021922.3(FANCE):c.901-3del
NM_021922.3(FANCE):c.901-5C>A rs747168225
NM_021922.3(FANCE):c.901-5C>T
NM_021922.3(FANCE):c.901-6C>T
NM_021922.3(FANCE):c.901-7T>C rs2150893886
NM_021922.3(FANCE):c.903G>A (p.Gly301=) rs781287698
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln) rs1470052853
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter) rs1767152512
NM_021922.3(FANCE):c.927C>G (p.Pro309=) rs763403812
NM_021922.3(FANCE):c.927C>T (p.Pro309=)
NM_021922.3(FANCE):c.928C>G (p.Pro310Ala)
NM_021922.3(FANCE):c.928C>T (p.Pro310Ser) rs372788363
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg) rs139600847
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu) rs139600847
NM_021922.3(FANCE):c.929del (p.Pro310fs) rs587778337
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.930A>G (p.Pro310=)
NM_021922.3(FANCE):c.931dup (p.Val311fs)
NM_021922.3(FANCE):c.937C>T (p.Leu313=) rs557021652
NM_021922.3(FANCE):c.956G>A (p.Cys319Tyr) rs1440691539
NM_021922.3(FANCE):c.959G>A (p.Ser320Asn) rs1767417019
NM_021922.3(FANCE):c.95C>A (p.Ala32Glu) rs924383249
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter) rs1767417868
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg) rs1034716031
NM_021922.3(FANCE):c.969+11A>T
NM_021922.3(FANCE):c.969+18C>T
NM_021922.3(FANCE):c.969+1G>A
NM_021922.3(FANCE):c.969+20T>A
NM_021922.3(FANCE):c.969+7C>T
NM_021922.3(FANCE):c.969+9A>C
NM_021922.3(FANCE):c.96G>T (p.Ala32=)
NM_021922.3(FANCE):c.970-12C>T
NM_021922.3(FANCE):c.970-16C>G rs117779586
NM_021922.3(FANCE):c.970-18C>A rs1376629458
NM_021922.3(FANCE):c.970-18C>T
NM_021922.3(FANCE):c.970-20C>G rs765193137
NM_021922.3(FANCE):c.970-6A>G
NM_021922.3(FANCE):c.970-6A>T rs1206121566
NM_021922.3(FANCE):c.970-8G>A
NM_021922.3(FANCE):c.970-9T>G
NM_021922.3(FANCE):c.975C>T (p.Asp325=)
NM_021922.3(FANCE):c.976T>C (p.Leu326=)
NM_021922.3(FANCE):c.981G>T (p.Leu327=) rs772385794
NM_021922.3(FANCE):c.983G>T (p.Cys328Phe)
NM_021922.3(FANCE):c.985G>A (p.Ala329Thr)
NM_021922.3(FANCE):c.988C>G (p.Gln330Glu) rs1263409404
NM_021922.3(FANCE):c.991C>G (p.Leu331Val) rs45468994
NM_021922.3(FANCE):c.992T>C (p.Leu331Pro)
NM_021922.3(FANCE):c.997C>T (p.Leu333Phe) rs2150894670
NM_022437.3(ABCG8):c.-27G>A rs779984848
NM_022725.4(FANCF):c.*1338dup rs45554234
NM_022725.4(FANCF):c.*1509G>C rs886048153
NM_022725.4(FANCF):c.*1525T>G rs886048152
NM_022725.4(FANCF):c.*1696G>A rs886048149
NM_022725.4(FANCF):c.*286A>G rs1858607148
NM_022725.4(FANCF):c.*287C>T rs886048156
NM_022725.4(FANCF):c.*539T>A rs1858602761
NM_022725.4(FANCF):c.*624G>C rs768178918
NM_022725.4(FANCF):c.*650ATTAA[1] rs886048154
NM_022725.4(FANCF):c.*695dup rs796646840
NM_022725.4(FANCF):c.*857G>A rs964945469
NM_022725.4(FANCF):c.-10C>T rs3740615
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val) rs772941983
NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn) rs886048157
NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly) rs2133796304
NM_022725.4(FANCF):c.1020A>G (p.Glu340=) rs1858615686
NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu)
NM_022725.4(FANCF):c.1035C>T (p.Ser345=) rs1554963603
NM_022725.4(FANCF):c.1038C>T (p.Ile346=)
NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter) rs587778343
NM_022725.4(FANCF):c.1044A>G (p.Thr348=) rs2133796228
NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile)
NM_022725.4(FANCF):c.104T>G (p.Leu35Trp) rs2133798660
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys) rs1858614312
NM_022725.4(FANCF):c.1064G>A (p.Arg355His) rs758175326
NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg) rs2133796173
NM_022725.4(FANCF):c.1089A>C (p.Gln363His) rs1858613638
NM_022725.4(FANCF):c.10C>T (p.Leu4Phe)
NM_022725.4(FANCF):c.1123T>C (p.Ter375Gln)
NM_022725.4(FANCF):c.115C>T (p.Arg39Cys)
NM_022725.4(FANCF):c.119A>G (p.Tyr40Cys) rs1359473267
NM_022725.4(FANCF):c.123dup (p.Arg42fs) rs1858636931
NM_022725.4(FANCF):c.130A>T (p.Ile44Phe)
NM_022725.4(FANCF):c.133_136del (p.His45fs)
NM_022725.4(FANCF):c.136C>G (p.Arg46Gly) rs758925111
NM_022725.4(FANCF):c.137G>A (p.Arg46Gln)
NM_022725.4(FANCF):c.139C>T (p.Arg47Cys)
NM_022725.4(FANCF):c.140_141delinsTT (p.Arg47Leu)
NM_022725.4(FANCF):c.147T>G (p.Gly49=)
NM_022725.4(FANCF):c.156C>T (p.Gly52=)
NM_022725.4(FANCF):c.160A>G (p.Ile54Val) rs2133798534
NM_022725.4(FANCF):c.164G>A (p.Arg55His)
NM_022725.4(FANCF):c.167del (p.Thr56fs)
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.4(FANCF):c.175G>C (p.Glu59Gln)
NM_022725.4(FANCF):c.183G>A (p.Arg61=)
NM_022725.4(FANCF):c.184C>T (p.Leu62=) rs2133798493
NM_022725.4(FANCF):c.186G>T (p.Leu62=)
NM_022725.4(FANCF):c.191A>G (p.Asn64Ser) rs756433846
NM_022725.4(FANCF):c.192C>A (p.Asn64Lys) rs1413335884
NM_022725.4(FANCF):c.192C>T (p.Asn64=)
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_022725.4(FANCF):c.194A>C (p.Gln65Pro)
NM_022725.4(FANCF):c.1A>C (p.Met1Leu) rs1046564488
NM_022725.4(FANCF):c.1A>T (p.Met1Leu) rs1046564488
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)
NM_022725.4(FANCF):c.203A>G (p.Gln68Arg)
NM_022725.4(FANCF):c.204A>G (p.Gln68=)
NM_022725.4(FANCF):c.211G>A (p.Gly71Ser) rs1590542146
NM_022725.4(FANCF):c.214T>G (p.Phe72Val)
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.221G>A (p.Arg74Gln) rs1858634295
NM_022725.4(FANCF):c.223G>T (p.Gly75Cys) rs958516903
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.231T>C (p.Val77=)
NM_022725.4(FANCF):c.236del (p.Gly79fs)
NM_022725.4(FANCF):c.244A>G (p.Asn82Asp)
NM_022725.4(FANCF):c.249C>T (p.Phe83=) rs1858633603
NM_022725.4(FANCF):c.24G>A (p.Leu8=) rs1035401874
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs) rs2133798885
NM_022725.4(FANCF):c.253G>A (p.Ala85Thr)
NM_022725.4(FANCF):c.258C>A (p.Leu86=) rs146352365
NM_022725.4(FANCF):c.258C>T (p.Leu86=) rs146352365
NM_022725.4(FANCF):c.260G>T (p.Gly87Val)
NM_022725.4(FANCF):c.261_263del (p.His88del) rs886048158
NM_022725.4(FANCF):c.267T>C (p.Cys89=)
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
NM_022725.4(FANCF):c.269A>G (p.Asp90Gly) rs746415789
NM_022725.4(FANCF):c.276G>C (p.Leu92=) rs757554175
NM_022725.4(FANCF):c.281C>G (p.Ser94Cys)
NM_022725.4(FANCF):c.281C>T (p.Ser94Phe) rs1454810693
NM_022725.4(FANCF):c.283_284del (p.Leu95fs) rs2133798188
NM_022725.4(FANCF):c.291G>A (p.Leu97=)
NM_022725.4(FANCF):c.291G>C (p.Leu97=) rs1418187939
NM_022725.4(FANCF):c.292C>T (p.Leu98=)
NM_022725.4(FANCF):c.2T>C (p.Met1Thr) rs745495865
NM_022725.4(FANCF):c.301C>G (p.Arg101Gly) rs760571335
NM_022725.4(FANCF):c.306C>T (p.Ala102=)
NM_022725.4(FANCF):c.309C>T (p.Leu103=)
NM_022725.4(FANCF):c.318_319delinsCC (p.Ala107Pro) rs1565055434
NM_022725.4(FANCF):c.322C>T (p.Arg108Cys) rs200995539
NM_022725.4(FANCF):c.325T>C (p.Tyr109His) rs2133798077
NM_022725.4(FANCF):c.326dup (p.Tyr109Ter) rs2133798073
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.4(FANCF):c.345C>A (p.Leu115=) rs749884571
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser) rs372625322
NM_022725.4(FANCF):c.351C>T (p.Pro117=)
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.352G>A (p.Gly118Ser)
NM_022725.4(FANCF):c.352G>T (p.Gly118Cys) rs1060501871
NM_022725.4(FANCF):c.353G>T (p.Gly118Val) rs200874455
NM_022725.4(FANCF):c.364C>T (p.Arg122Trp)
NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)
NM_022725.4(FANCF):c.36C>G (p.Ser12=) rs1353229536
NM_022725.4(FANCF):c.370G>T (p.Ala124Ser) rs201357673
NM_022725.4(FANCF):c.378G>A (p.Glu126=) rs1318651729
NM_022725.4(FANCF):c.385C>A (p.Leu129Ile)
NM_022725.4(FANCF):c.388C>A (p.Gln130Lys)
NM_022725.4(FANCF):c.388C>G (p.Gln130Glu)
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
NM_022725.4(FANCF):c.391G>A (p.Glu131Lys)
NM_022725.4(FANCF):c.3G>A (p.Met1Ile) rs2133798927
NM_022725.4(FANCF):c.407_415dup (p.Arg138_Arg139insLeuAlaArg)
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser) rs565372884
NM_022725.4(FANCF):c.419G>A (p.Arg140Gln) rs868692458
NM_022725.4(FANCF):c.420G>A (p.Arg140=)
NM_022725.4(FANCF):c.429G>A (p.Val143=)
NM_022725.4(FANCF):c.433A>G (p.Met145Val) rs766160698
NM_022725.4(FANCF):c.434T>G (p.Met145Arg)
NM_022725.4(FANCF):c.434del (p.Met145fs)
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer) rs778546226
NM_022725.4(FANCF):c.445A>G (p.Asn149Asp)
NM_022725.4(FANCF):c.447T>C (p.Asn149=)
NM_022725.4(FANCF):c.448G>C (p.Gly150Arg)
NM_022725.4(FANCF):c.449G>A (p.Gly150Asp)
NM_022725.4(FANCF):c.451T>A (p.Tyr151Asn) rs984455929
NM_022725.4(FANCF):c.457G>A (p.Glu153Lys) rs748768759
NM_022725.4(FANCF):c.462C>A (p.Asn154Lys)
NM_022725.4(FANCF):c.462C>T (p.Asn154=) rs2133797693
NM_022725.4(FANCF):c.471C>A (p.Leu157=) rs201136733
NM_022725.4(FANCF):c.473A>G (p.Gln158Arg)
NM_022725.4(FANCF):c.477G>A (p.Glu159=)
NM_022725.4(FANCF):c.482C>G (p.Ser161Cys)
NM_022725.4(FANCF):c.484C>G (p.Leu162Val) rs2133797641
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.489G>C (p.Met163Ile) rs1590541541
NM_022725.4(FANCF):c.494C>T (p.Thr165Ile)
NM_022725.4(FANCF):c.496C>T (p.Gln166Ter) rs766279442
NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)
NM_022725.4(FANCF):c.49G>A (p.Val17Ile)
NM_022725.4(FANCF):c.49G>T (p.Val17Phe) rs758897077
NM_022725.4(FANCF):c.501G>A (p.Ala167=)
NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)
NM_022725.4(FANCF):c.506T>A (p.Leu169Gln)
NM_022725.4(FANCF):c.507G>A (p.Leu169=)
NM_022725.4(FANCF):c.50T>C (p.Val17Ala)
NM_022725.4(FANCF):c.51C>T (p.Val17=) rs2133798809
NM_022725.4(FANCF):c.530_537del (p.Val177fs)
NM_022725.4(FANCF):c.533G>A (p.Gly178Glu)
NM_022725.4(FANCF):c.534del (p.Lys179fs) rs2133797515
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)
NM_022725.4(FANCF):c.537G>C (p.Lys179Asn)
NM_022725.4(FANCF):c.538del (p.Ala180fs)
NM_022725.4(FANCF):c.544G>A (p.Ala182Thr) rs1858626528
NM_022725.4(FANCF):c.547G>A (p.Glu183Lys) rs774728053
NM_022725.4(FANCF):c.547G>C (p.Glu183Gln) rs774728053
NM_022725.4(FANCF):c.54A>G (p.Ser18=)
NM_022725.4(FANCF):c.551G>C (p.Arg184Pro)
NM_022725.4(FANCF):c.552_554inv (p.Pro185Asp)
NM_022725.4(FANCF):c.553C>T (p.Pro185Ser)
NM_022725.4(FANCF):c.555C>T (p.Pro185=) rs1156693900
NM_022725.4(FANCF):c.581A>G (p.Glu194Gly) rs1274843959
NM_022725.4(FANCF):c.583C>T (p.Arg195Cys) rs1231820160
NM_022725.4(FANCF):c.594_595del (p.Asn199fs) rs2133797345
NM_022725.4(FANCF):c.600C>T (p.Asn200=) rs143713546
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) rs1479457172
NM_022725.4(FANCF):c.606G>T (p.Leu202=)
NM_022725.4(FANCF):c.614T>C (p.Ile205Thr) rs764300983
NM_022725.4(FANCF):c.615A>T (p.Ile205=) rs1858624791
NM_022725.4(FANCF):c.618G>C (p.Ala206=) rs1056134185
NM_022725.4(FANCF):c.623C>A (p.Ala208Glu)
NM_022725.4(FANCF):c.623C>T (p.Ala208Val)
NM_022725.4(FANCF):c.626T>C (p.Leu209Pro) rs1554963662
NM_022725.4(FANCF):c.628T>C (p.Leu210=)
NM_022725.4(FANCF):c.62C>G (p.Thr21Ser) rs765672591
NM_022725.4(FANCF):c.633G>A (p.Gln211=)
NM_022725.4(FANCF):c.635C>A (p.Pro212Gln) rs1590541259
NM_022725.4(FANCF):c.636G>T (p.Pro212=) rs2133797243
NM_022725.4(FANCF):c.63del (p.Tyr22fs)
NM_022725.4(FANCF):c.645T>A (p.Ser215=) rs2133797216
NM_022725.4(FANCF):c.654C>T (p.Pro218=)
NM_022725.4(FANCF):c.656A>G (p.Gln219Arg) rs1230568893
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
NM_022725.4(FANCF):c.65A>G (p.Tyr22Cys) rs1590542501
NM_022725.4(FANCF):c.664T>C (p.Leu222=)
NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)
NM_022725.4(FANCF):c.668A>C (p.Glu223Ala)
NM_022725.4(FANCF):c.670C>A (p.Pro224Thr) rs767765820
NM_022725.4(FANCF):c.683A>C (p.Lys228Thr)
NM_022725.4(FANCF):c.683A>G (p.Lys228Arg) rs766802308
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser) rs773724648
NM_022725.4(FANCF):c.689C>G (p.Pro230Arg) rs762305649
NM_022725.4(FANCF):c.692G>A (p.Gly231Glu) rs1858622610
NM_022725.4(FANCF):c.696G>C (p.Glu232Asp) rs1590541131
NM_022725.4(FANCF):c.696G>T (p.Glu232Asp) rs1590541131
NM_022725.4(FANCF):c.69C>T (p.Val23=) rs987030810
NM_022725.4(FANCF):c.70A>G (p.Ser24Gly) rs1858638724
NM_022725.4(FANCF):c.70A>T (p.Ser24Cys) rs1858638724
NM_022725.4(FANCF):c.724C>T (p.Leu242=)
NM_022725.4(FANCF):c.736del (p.Glu246fs)
NM_022725.4(FANCF):c.750C>A (p.Ala250=)
NM_022725.4(FANCF):c.760G>A (p.Ala254Thr)
NM_022725.4(FANCF):c.762C>A (p.Ala254=) rs1230699102
NM_022725.4(FANCF):c.763C>G (p.Leu255Val)
NM_022725.4(FANCF):c.765C>T (p.Leu255=)
NM_022725.4(FANCF):c.769G>A (p.Ala257Thr)
NM_022725.4(FANCF):c.771C>G (p.Ala257=)
NM_022725.4(FANCF):c.771C>T (p.Ala257=)
NM_022725.4(FANCF):c.78G>C (p.Trp26Cys) rs764519472
NM_022725.4(FANCF):c.790A>T (p.Thr264Ser) rs1663559839
NM_022725.4(FANCF):c.792dup (p.Ser265Ter)
NM_022725.4(FANCF):c.795C>A (p.Ser265Arg) rs758796858
NM_022725.4(FANCF):c.799C>T (p.His267Tyr)
NM_022725.4(FANCF):c.801C>A (p.His267Gln) rs762356967
NM_022725.4(FANCF):c.80A>C (p.Asp27Ala)
NM_022725.4(FANCF):c.814C>T (p.Pro272Ser)
NM_022725.4(FANCF):c.817G>C (p.Val273Leu) rs1858619819
NM_022725.4(FANCF):c.817_820del (p.Val273fs) rs1858619779
NM_022725.4(FANCF):c.821A>C (p.Tyr274Ser) rs144524228
NM_022725.4(FANCF):c.821A>G (p.Tyr274Cys) rs144524228
NM_022725.4(FANCF):c.822T>C (p.Tyr274=)
NM_022725.4(FANCF):c.823C>T (p.Leu275=) rs1858619649
NM_022725.4(FANCF):c.829C>G (p.Leu277Val)
NM_022725.4(FANCF):c.838G>A (p.Asp280Asn)
NM_022725.4(FANCF):c.838G>T (p.Asp280Tyr)
NM_022725.4(FANCF):c.841T>C (p.Trp281Arg)
NM_022725.4(FANCF):c.845G>A (p.Gly282Asp) rs2133796678
NM_022725.4(FANCF):c.849A>G (p.Gln283=) rs146848948
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_022725.4(FANCF):c.851G>C (p.Arg284Pro)
NM_022725.4(FANCF):c.857A>C (p.His286Pro)
NM_022725.4(FANCF):c.857A>G (p.His286Arg) rs368940253
NM_022725.4(FANCF):c.85G>C (p.Ala29Pro)
NM_022725.4(FANCF):c.861T>C (p.Tyr287=) rs1029853294
NM_022725.4(FANCF):c.864C>T (p.Asp288=)
NM_022725.4(FANCF):c.866T>C (p.Leu289Pro) rs1177443868
NM_022725.4(FANCF):c.869A>C (p.Gln290Pro) rs2133796621
NM_022725.4(FANCF):c.885T>G (p.Val295=) rs761238804
NM_022725.4(FANCF):c.886G>T (p.Gly296Ter)
NM_022725.4(FANCF):c.889A>G (p.Thr297Ala) rs1060501872
NM_022725.4(FANCF):c.88A>G (p.Thr30Ala)
NM_022725.4(FANCF):c.88dup (p.Thr30fs)
NM_022725.4(FANCF):c.891T>G (p.Thr297=) rs1060504373
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)
NM_022725.4(FANCF):c.899A>G (p.Gln300Arg) rs915379462
NM_022725.4(FANCF):c.89C>G (p.Thr30Ser) rs370347668
NM_022725.4(FANCF):c.90C>A (p.Thr30=)
NM_022725.4(FANCF):c.90C>T (p.Thr30=) rs544395896
NM_022725.4(FANCF):c.921G>T (p.Leu307Phe) rs1205605542
NM_022725.4(FANCF):c.923A>G (p.His308Arg) rs1590540697
NM_022725.4(FANCF):c.924C>A (p.His308Gln)
NM_022725.4(FANCF):c.924C>T (p.His308=)
NM_022725.4(FANCF):c.940C>T (p.Leu314Phe) rs1858617232
NM_022725.4(FANCF):c.943dup (p.Cys315fs) rs1590540654
NM_022725.4(FANCF):c.952C>G (p.Pro318Ala)
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser) rs746120363
NM_022725.4(FANCF):c.95G>A (p.Arg32His)
NM_022725.4(FANCF):c.96C>G (p.Arg32=) rs151253274
NM_022725.4(FANCF):c.96_98dup (p.Arg33dup) rs1554963731
NM_022725.4(FANCF):c.987G>C (p.Leu329=) rs2133796354
NM_022725.4(FANCF):c.98G>A (p.Arg33Gln) rs2133798673
NM_022725.4(FANCF):c.98G>C (p.Arg33Pro)
NM_022725.4(FANCF):c.992C>T (p.Thr331Ile) rs1250903119
NM_022725.4(FANCF):c.993C>A (p.Thr331=)
NM_022725.4(FANCF):c.994T>C (p.Cys332Arg)
NM_022725.4(FANCF):c.9C>A (p.Ser3=)
NM_022725.4(FANCF):c.9C>T (p.Ser3=) rs1404225853
NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)
NM_022836.4(DCLRE1B):c.807C>T (p.His269=)
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.4(PALB2):c.-108C>A rs180177140
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.101G>T (p.Arg34Leu) rs144944814
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs) rs587776410
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser) rs876660876
NM_024675.4(PALB2):c.108+7_108+8delinsAT rs2142459585
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr) rs786204243
NM_024675.4(PALB2):c.113C>G (p.Ala38Gly) rs371875379
NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys) rs1567221497
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter) rs587780817
NM_024675.4(PALB2):c.1189A>C (p.Thr397Pro) rs367578415
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val) rs1060502757
NM_024675.4(PALB2):c.1318T>C (p.Phe440Leu) rs776294034
NM_024675.4(PALB2):c.1340C>A (p.Ala447Glu) rs1555461334
NM_024675.4(PALB2):c.1415A>G (p.Gln472Arg) rs867817029
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro) rs577969558
NM_024675.4(PALB2):c.1482T>C (p.Thr494=) rs2142414557
NM_024675.4(PALB2):c.1490del (p.Asn497fs) rs1555461253
NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn) rs75023630
NM_024675.4(PALB2):c.1498T>C (p.Ser500Pro) rs869025294
NM_024675.4(PALB2):c.1530A>C (p.Arg510Ser) rs1555461232
NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala) rs1060502741
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.1684+11A>G rs201368043
NM_024675.4(PALB2):c.168T>C (p.Asp56=) rs1203135643
NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys) rs876659354
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter) rs730881876
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.1802A>G (p.Lys601Arg) rs1555460644
NM_024675.4(PALB2):c.1862C>T (p.Pro621Leu) rs1567218668
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr) rs876659058
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala) rs876659058
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg) rs71379822
NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile) rs1567218311
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.205C>T (p.His69Tyr) rs879253891
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys) rs770145849
NM_024675.4(PALB2):c.2216C>T (p.Pro739Leu) rs1966858909
NM_024675.4(PALB2):c.2231A>G (p.Glu744Gly) rs1060502779
NM_024675.4(PALB2):c.2263T>C (p.Cys755Arg) rs1060502794
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr) rs925044785
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs) rs755471995
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2273C>G (p.Pro758Arg) rs746117401
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter) rs1833331932
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) rs1060502748
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs) rs747148023
NM_024675.4(PALB2):c.2424A>C (p.Gly808=) rs1060504714
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs) rs1555460334
NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly) rs745747228
NM_024675.4(PALB2):c.2488del (p.Glu830fs) rs876658813
NM_024675.4(PALB2):c.2507_2509del (p.Val836del) rs587782697
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys) rs1567216902
NM_024675.4(PALB2):c.2571G>A (p.Leu857=) rs587780821
NM_024675.4(PALB2):c.2667T>A (p.Thr889=) rs876659224
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val) rs730881890
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2774T>C (p.Val925Ala) rs1555459734
NM_024675.4(PALB2):c.2777C>T (p.Pro926Leu) rs1555459732
NM_024675.4(PALB2):c.2785_2786delinsAT (p.Tyr929Ile) rs1597082795
NM_024675.4(PALB2):c.2804C>G (p.Ala935Gly) rs769009609
NM_024675.4(PALB2):c.2827G>A (p.Glu943Lys) rs1567214295
NM_024675.4(PALB2):c.2832del (p.Arg945fs) rs1060499823
NM_024675.4(PALB2):c.2834+13C>G rs551516577
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2835-2A>G
NM_024675.4(PALB2):c.2849C>T (p.Ser950Phe) rs876659160
NM_024675.4(PALB2):c.2861A>G (p.Glu954Gly) rs375942535
NM_024675.4(PALB2):c.2878del (p.Leu960fs) rs1064795824
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.2996+14T>G rs1407045774
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile) rs876659643
NM_024675.4(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs) rs786203488
NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val) rs1567212950
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr) rs759795184
NM_024675.4(PALB2):c.3103A>T (p.Ile1035Phe) rs863224783
NM_024675.4(PALB2):c.3114-16_3114-11del rs2142300433
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3202-13T>C
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=) rs786203475
NM_024675.4(PALB2):c.3209T>C (p.Leu1070Pro) rs863224785
NM_024675.4(PALB2):c.3217G>T (p.Val1073Phe) rs1555458226
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu) rs781049663
NM_024675.4(PALB2):c.3220C>G (p.Leu1074Val) rs1057523330
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs) rs180177134
NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met) rs142132127
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.3325T>C (p.Cys1109Arg) rs911734555
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu) rs772480747
NM_024675.4(PALB2):c.3367G>A (p.Val1123Met) rs757118000
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=) rs1966403904
NM_024675.4(PALB2):c.3418T>G (p.Trp1140Gly) rs62625283
NM_024675.4(PALB2):c.3428T>C (p.Leu1143Pro) rs62625284
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.359G>C (p.Arg120Thr) rs1251150895
NM_024675.4(PALB2):c.388C>T (p.His130Tyr) rs1555461809
NM_024675.4(PALB2):c.437G>A (p.Arg146Lys) rs2142443443
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser) rs1060502796
NM_024675.4(PALB2):c.551G>C (p.Ser184Thr) rs587780220
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile) rs587782164
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) rs587782081
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg) rs769647912
NM_024675.4(PALB2):c.637G>C (p.Val213Leu) rs786203875
NM_024675.4(PALB2):c.66A>G (p.Ala22=) rs1057520982
NM_024675.4(PALB2):c.712A>G (p.Arg238Gly) rs779278389
NM_024675.4(PALB2):c.733G>C (p.Ala245Pro) rs886051831
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.779A>G (p.Gln260Arg) rs1597098293
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.968C>T (p.Ala323Val) rs730881882
NM_025215.6(PUS1):c.-151G>A rs1890481878
NM_025215.6(PUS1):c.-424C>T rs1890465624
NM_025215.6(PUS1):c.1065G>A (p.Pro355=) rs147555676
NM_025215.6(PUS1):c.107_122del (p.Pro36fs)
NM_025215.6(PUS1):c.107_122dup (p.Cys42fs)
NM_025215.6(PUS1):c.110C>G (p.Pro37Arg) rs561744467
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter) rs779193823
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val) rs200292016
NM_025215.6(PUS1):c.1237-2A>G
NM_025215.6(PUS1):c.130dup (p.Gln44fs)
NM_025215.6(PUS1):c.178del (p.Glu60fs)
NM_025215.6(PUS1):c.190C>T (p.His64Tyr) rs770669291
NM_025215.6(PUS1):c.418C>T (p.Gln140Ter)
NM_025215.6(PUS1):c.423C>A (p.Arg141=) rs371752870
NM_025215.6(PUS1):c.442-1G>T
NM_025215.6(PUS1):c.454dup (p.Ala152fs) rs1555268564
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) rs895175332
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)
NM_025215.6(PUS1):c.517C>T (p.His173Tyr)
NM_025215.6(PUS1):c.517del (p.His173fs)
NM_025215.6(PUS1):c.545-1G>A
NM_025215.6(PUS1):c.545-5C>A rs376656565
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372
NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_025215.6(PUS1):c.737A>G (p.His246Arg) rs1891063731
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
NM_025215.6(PUS1):c.893_896del (p.Val298fs)
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)
NM_025215.6(PUS1):c.929del (p.Pro310fs)
NM_025215.6(PUS1):c.937G>A (p.Val313Met) rs140088613
NM_030943.4(AMN):c.1002G>A (p.Glu334=)
NM_030943.4(AMN):c.1006+11_1008del rs1566829097
NM_030943.4(AMN):c.1006+12C>G
NM_030943.4(AMN):c.1006+12_1006+35dup
NM_030943.4(AMN):c.1006+13G>A
NM_030943.4(AMN):c.1006+14C>T
NM_030943.4(AMN):c.1006+16_1006+30del rs386834160
NM_030943.4(AMN):c.1006+18_1006+27del
NM_030943.4(AMN):c.1006+23_1006+36del
NM_030943.4(AMN):c.1006+27C>T
NM_030943.4(AMN):c.1006+28G>T
NM_030943.4(AMN):c.1006+33G>A
NM_030943.4(AMN):c.1006+33G>T
NM_030943.4(AMN):c.1006+34_1007-31del rs386834161
NM_030943.4(AMN):c.1006+36_1007-29del rs386834162
NM_030943.4(AMN):c.1006+36_1007-34dup
NM_030943.4(AMN):c.1006+6C>T
NM_030943.4(AMN):c.1006+8C>A
NM_030943.4(AMN):c.1006+9G>A
NM_030943.4(AMN):c.1006+9G>T
NM_030943.4(AMN):c.1007-11C>G
NM_030943.4(AMN):c.1007-11C>T
NM_030943.4(AMN):c.1007-13C>T
NM_030943.4(AMN):c.1007-14C>T
NM_030943.4(AMN):c.1007-15G>A
NM_030943.4(AMN):c.1007-16G>A
NM_030943.4(AMN):c.1007-29G>C
NM_030943.4(AMN):c.1007-30G>C
NM_030943.4(AMN):c.1007-30G>T
NM_030943.4(AMN):c.1007-31G>C
NM_030943.4(AMN):c.1007-31_1007-30insCC
NM_030943.4(AMN):c.1007-32C>T
NM_030943.4(AMN):c.1007-33G>T
NM_030943.4(AMN):c.1007-34del
NM_030943.4(AMN):c.1007-38_1007-34dup
NM_030943.4(AMN):c.1007-39C>T
NM_030943.4(AMN):c.1007-3C>T rs1318731733
NM_030943.4(AMN):c.1007-4G>A
NM_030943.4(AMN):c.1007-7G>A
NM_030943.4(AMN):c.1007-9C>T
NM_030943.4(AMN):c.1008C>A (p.Gly336=)
NM_030943.4(AMN):c.1011G>A (p.Glu337=)
NM_030943.4(AMN):c.1014C>A (p.Ala338=)
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs) rs386834163
NM_030943.4(AMN):c.1017C>A (p.Leu339=) rs1230984626
NM_030943.4(AMN):c.1020C>T (p.Gly340=)
NM_030943.4(AMN):c.1029G>A (p.Glu343=)
NM_030943.4(AMN):c.1036A>T (p.Met346Leu) rs1215795347
NM_030943.4(AMN):c.1039C>A (p.Arg347=)
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs) rs2139312594
NM_030943.4(AMN):c.1056C>A (p.His352Gln) rs773203683
NM_030943.4(AMN):c.105C>T (p.Asn35=)
NM_030943.4(AMN):c.1065C>T (p.Gly355=)
NM_030943.4(AMN):c.1068C>T (p.Ser356=)
NM_030943.4(AMN):c.1077T>A (p.Ala359=)
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del) rs1034496756
NM_030943.4(AMN):c.1089C>T (p.Gly363=)
NM_030943.4(AMN):c.1092C>T (p.Gly364=)
NM_030943.4(AMN):c.1098G>A (p.Ala366=)
NM_030943.4(AMN):c.1104C>G (p.Ala368=)
NM_030943.4(AMN):c.1104C>T (p.Ala368=)
NM_030943.4(AMN):c.1108C>T (p.Leu370=)
NM_030943.4(AMN):c.1114dup (p.Ala372fs)
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup) rs1428691401
NM_030943.4(AMN):c.1117C>T (p.Leu373=)
NM_030943.4(AMN):c.1128G>T (p.Leu376=)
NM_030943.4(AMN):c.1137G>A (p.Ala379=)
NM_030943.4(AMN):c.1145T>C (p.Leu382Pro)
NM_030943.4(AMN):c.1146G>C (p.Leu382=)
NM_030943.4(AMN):c.1148T>C (p.Leu383Pro)
NM_030943.4(AMN):c.1152C>T (p.Arg384=) rs763597496
NM_030943.4(AMN):c.1158G>C (p.Ala386=)
NM_030943.4(AMN):c.1158G>T (p.Ala386=)
NM_030943.4(AMN):c.1161dup (p.Arg388fs)
NM_030943.4(AMN):c.1169+10G>A
NM_030943.4(AMN):c.1169+14G>A
NM_030943.4(AMN):c.1169+16G>T
NM_030943.4(AMN):c.1169+17_1169+36del
NM_030943.4(AMN):c.1169+19C>T
NM_030943.4(AMN):c.1169+2T>C
NM_030943.4(AMN):c.1170-10A>G
NM_030943.4(AMN):c.1170-12C>T
NM_030943.4(AMN):c.1170-14C>T
NM_030943.4(AMN):c.1170-16C>T
NM_030943.4(AMN):c.1170-17C>T
NM_030943.4(AMN):c.1170-1G>C
NM_030943.4(AMN):c.1170-7C>A
NM_030943.4(AMN):c.1170-7C>T
NM_030943.4(AMN):c.1170-8G>A
NM_030943.4(AMN):c.1170-8G>C
NM_030943.4(AMN):c.1170-9C>T
NM_030943.4(AMN):c.1173G>A (p.Trp391Ter)
NM_030943.4(AMN):c.1177A>C (p.Arg393=)
NM_030943.4(AMN):c.1182C>T (p.His394=)
NM_030943.4(AMN):c.1185G>A (p.Glu395=)
NM_030943.4(AMN):c.1191G>A (p.Ala397=)
NM_030943.4(AMN):c.1191G>C (p.Ala397=)
NM_030943.4(AMN):c.1191G>T (p.Ala397=)
NM_030943.4(AMN):c.1192G>T (p.Ala398Ser)
NM_030943.4(AMN):c.1194C>G (p.Ala398=)
NM_030943.4(AMN):c.1197G>C (p.Pro399=)
NM_030943.4(AMN):c.1199C>T (p.Ala400Val)
NM_030943.4(AMN):c.1206G>T (p.Ala402=)
NM_030943.4(AMN):c.1209C>T (p.Pro403=)
NM_030943.4(AMN):c.1215C>T (p.Gly405=)
NM_030943.4(AMN):c.1218C>T (p.Phe406=)
NM_030943.4(AMN):c.1219C>T (p.Arg407Cys)
NM_030943.4(AMN):c.1221C>T (p.Arg407=)
NM_030943.4(AMN):c.1227G>A (p.Pro409=)
NM_030943.4(AMN):c.1242G>A (p.Thr414=)
NM_030943.4(AMN):c.1248C>T (p.Ser416=)
NM_030943.4(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.4(AMN):c.1255dup (p.Leu419fs)
NM_030943.4(AMN):c.1257+10C>A
NM_030943.4(AMN):c.1257+15G>A
NM_030943.4(AMN):c.1257+16G>A
NM_030943.4(AMN):c.1257+16G>C
NM_030943.4(AMN):c.1257+17G>A
NM_030943.4(AMN):c.1257+18G>A
NM_030943.4(AMN):c.1257+19G>A
NM_030943.4(AMN):c.1257+20G>A
NM_030943.4(AMN):c.1257+20G>C
NM_030943.4(AMN):c.1257+20del
NM_030943.4(AMN):c.1257+20dup rs759269975
NM_030943.4(AMN):c.1257+7G>T
NM_030943.4(AMN):c.1257+9del
NM_030943.4(AMN):c.1257+9dup
NM_030943.4(AMN):c.1257G>A (p.Leu419=) rs2139313588
NM_030943.4(AMN):c.1258-14C>T
NM_030943.4(AMN):c.1258-15C>A
NM_030943.4(AMN):c.1258-15C>T
NM_030943.4(AMN):c.1258-4G>C
NM_030943.4(AMN):c.1258-5C>T
NM_030943.4(AMN):c.1258-8C>A
NM_030943.4(AMN):c.1258-9A>C
NM_030943.4(AMN):c.126G>A (p.Pro42=)
NM_030943.4(AMN):c.1270C>G (p.Arg424Gly)
NM_030943.4(AMN):c.1272G>C (p.Arg424=)
NM_030943.4(AMN):c.1278C>T (p.Ser426=)
NM_030943.4(AMN):c.1279C>T (p.Leu427=)
NM_030943.4(AMN):c.1281G>C (p.Leu427=)
NM_030943.4(AMN):c.1287G>A (p.Pro429=)
NM_030943.4(AMN):c.1287G>C (p.Pro429=) rs2139314090
NM_030943.4(AMN):c.1288A>C (p.Lys430Gln)
NM_030943.4(AMN):c.1293G>A (p.Ala431=)
NM_030943.4(AMN):c.1296C>T (p.Ala432=)
NM_030943.4(AMN):c.1299A>G (p.Ala433=)
NM_030943.4(AMN):c.129C>T (p.Cys43=)
NM_030943.4(AMN):c.1308_1323dup (p.Val442fs) rs2139314176
NM_030943.4(AMN):c.130G>A (p.Ala44Thr)
NM_030943.4(AMN):c.1310G>A (p.Ser437Asn)
NM_030943.4(AMN):c.1314C>T (p.His438=)
NM_030943.4(AMN):c.1314_1315del (p.His438fs) rs386834167
NM_030943.4(AMN):c.1317T>C (p.Ser439=)
NM_030943.4(AMN):c.1320C>T (p.Tyr440=)
NM_030943.4(AMN):c.1330C>T (p.Pro444Ser) rs1354241478
NM_030943.4(AMN):c.1338C>T (p.Phe446=)
NM_030943.4(AMN):c.1341C>T (p.Ala447=)
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.1344G>A (p.Gly448=)
NM_030943.4(AMN):c.1347C>G (p.Ala449=)
NM_030943.4(AMN):c.1347C>T (p.Ala449=)
NM_030943.4(AMN):c.1348GAGGCC[3] (p.450EA[3]) rs763564473
NM_030943.4(AMN):c.1350G>A (p.Glu450=)
NM_030943.4(AMN):c.1356G>A (p.Glu452=)
NM_030943.4(AMN):c.1359C>T (p.Ala453=)
NM_030943.4(AMN):c.135C>T (p.Gly45=)
NM_030943.4(AMN):c.138_162+20del
NM_030943.4(AMN):c.140C>T (p.Ala47Val)
NM_030943.4(AMN):c.141C>G (p.Ala47=)
NM_030943.4(AMN):c.141C>T (p.Ala47=)
NM_030943.4(AMN):c.149T>C (p.Phe50Ser) rs772475317
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.153G>A (p.Pro51=)
NM_030943.4(AMN):c.153G>C (p.Pro51=)
NM_030943.4(AMN):c.153G>T (p.Pro51=)
NM_030943.4(AMN):c.156G>A (p.Ala52=)
NM_030943.4(AMN):c.162+12C>G
NM_030943.4(AMN):c.162+12C>T
NM_030943.4(AMN):c.162+13G>A
NM_030943.4(AMN):c.162+15C>T
NM_030943.4(AMN):c.162+19G>A
NM_030943.4(AMN):c.162+8G>A
NM_030943.4(AMN):c.163-11T>C
NM_030943.4(AMN):c.163-13C>A
NM_030943.4(AMN):c.163-16C>T
NM_030943.4(AMN):c.163-20G>A
NM_030943.4(AMN):c.163-3C>T
NM_030943.4(AMN):c.163-6C>T
NM_030943.4(AMN):c.163-7C>T
NM_030943.4(AMN):c.168G>A (p.Val56=)
NM_030943.4(AMN):c.170C>G (p.Ser57Ter)
NM_030943.4(AMN):c.177G>A (p.Leu59=)
NM_030943.4(AMN):c.180G>C (p.Val60=)
NM_030943.4(AMN):c.192C>T (p.His64=)
NM_030943.4(AMN):c.195C>T (p.Ala65=)
NM_030943.4(AMN):c.196G>A (p.Val66Ile)
NM_030943.4(AMN):c.206T>A (p.Met69Lys) rs375774640
NM_030943.4(AMN):c.206T>C (p.Met69Thr)
NM_030943.4(AMN):c.207+11G>A
NM_030943.4(AMN):c.207+11G>C
NM_030943.4(AMN):c.207+12C>A
NM_030943.4(AMN):c.207+13T>C
NM_030943.4(AMN):c.207+14G>T
NM_030943.4(AMN):c.207+17A>C
NM_030943.4(AMN):c.207+1G>A
NM_030943.4(AMN):c.207+8C>T
NM_030943.4(AMN):c.208-14C>T
NM_030943.4(AMN):c.208-15C>G
NM_030943.4(AMN):c.208-17G>T
NM_030943.4(AMN):c.208-18dup
NM_030943.4(AMN):c.208-1G>C rs386834169
NM_030943.4(AMN):c.208-20T>C
NM_030943.4(AMN):c.213G>A (p.Leu71=)
NM_030943.4(AMN):c.219G>A (p.Leu73=)
NM_030943.4(AMN):c.21C>A (p.Val7=) rs768522233
NM_030943.4(AMN):c.21C>T (p.Val7=) rs768522233
NM_030943.4(AMN):c.235C>T (p.Leu79=)
NM_030943.4(AMN):c.240T>C (p.Ala80=)
NM_030943.4(AMN):c.246A>G (p.Gly82=)
NM_030943.4(AMN):c.249C>A (p.Ala83=)
NM_030943.4(AMN):c.249C>G (p.Ala83=) rs748549145
NM_030943.4(AMN):c.249C>T (p.Ala83=)
NM_030943.4(AMN):c.24G>T (p.Leu8=)
NM_030943.4(AMN):c.250G>A (p.Gly84Arg)
NM_030943.4(AMN):c.258C>T (p.Gly86=)
NM_030943.4(AMN):c.264A>G (p.Ser88=)
NM_030943.4(AMN):c.268G>A (p.Val90Met)
NM_030943.4(AMN):c.276G>C (p.Ser92=)
NM_030943.4(AMN):c.280C>T (p.Leu94=)
NM_030943.4(AMN):c.282G>A (p.Leu94=)
NM_030943.4(AMN):c.294G>A (p.Ala98=)
NM_030943.4(AMN):c.295+11C>T
NM_030943.4(AMN):c.295+15C>T
NM_030943.4(AMN):c.295+17G>A
NM_030943.4(AMN):c.295+1del rs386834171
NM_030943.4(AMN):c.295+20G>A
NM_030943.4(AMN):c.295+7C>G
NM_030943.4(AMN):c.295+7C>T
NM_030943.4(AMN):c.295+8G>A
NM_030943.4(AMN):c.295+9G>A
NM_030943.4(AMN):c.296-11C>T
NM_030943.4(AMN):c.296-16A>T
NM_030943.4(AMN):c.296-1G>A
NM_030943.4(AMN):c.296-6del
NM_030943.4(AMN):c.296-9C>G
NM_030943.4(AMN):c.296-9C>T rs373204347
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs) rs2139308896
NM_030943.4(AMN):c.306C>A (p.Ala102=)
NM_030943.4(AMN):c.306C>T (p.Ala102=)
NM_030943.4(AMN):c.316G>A (p.Asp106Asn)
NM_030943.4(AMN):c.320_321dup (p.Asp108fs) rs1555381324
NM_030943.4(AMN):c.333C>T (p.Ser111=)
NM_030943.4(AMN):c.349C>T (p.Leu117=)
NM_030943.4(AMN):c.34C>T (p.Gln12Ter)
NM_030943.4(AMN):c.351G>C (p.Leu117=)
NM_030943.4(AMN):c.357C>T (p.Arg119=)
NM_030943.4(AMN):c.35del (p.Gln12fs) rs769770182
NM_030943.4(AMN):c.365A>G (p.Asp122Gly)
NM_030943.4(AMN):c.375T>C (p.Pro125=)
NM_030943.4(AMN):c.378C>T (p.Gly126=)
NM_030943.4(AMN):c.381C>G (p.Leu127=)
NM_030943.4(AMN):c.384C>T (p.Phe128=)
NM_030943.4(AMN):c.387C>T (p.Phe129=)
NM_030943.4(AMN):c.395C>T (p.Ala132Val)
NM_030943.4(AMN):c.396C>T (p.Ala132=)
NM_030943.4(AMN):c.411C>A (p.Cys137Ter)
NM_030943.4(AMN):c.414C>T (p.Arg138=)
NM_030943.4(AMN):c.423C>T (p.Asp141=) rs2139309288
NM_030943.4(AMN):c.429C>T (p.Phe143=)
NM_030943.4(AMN):c.43+10G>A
NM_030943.4(AMN):c.43+11A>G
NM_030943.4(AMN):c.43+15C>T
NM_030943.4(AMN):c.43+16A>G
NM_030943.4(AMN):c.43+17C>G
NM_030943.4(AMN):c.43+17C>T
NM_030943.4(AMN):c.43+17_43+37del
NM_030943.4(AMN):c.43+18C>T
NM_030943.4(AMN):c.43+1G>T rs386834172
NM_030943.4(AMN):c.43+7C>T
NM_030943.4(AMN):c.43+8G>A rs1891084049
NM_030943.4(AMN):c.43+9G>A
NM_030943.4(AMN):c.43G>T (p.Ala15Ser)
NM_030943.4(AMN):c.44-15T>C
NM_030943.4(AMN):c.44-1G>A
NM_030943.4(AMN):c.44-20C>T
NM_030943.4(AMN):c.44-2A>T
NM_030943.4(AMN):c.44-4C>T
NM_030943.4(AMN):c.44-6C>T
NM_030943.4(AMN):c.44-7_44-5del rs774101952
NM_030943.4(AMN):c.44-9C>G
NM_030943.4(AMN):c.440G>C (p.Ser147Thr)
NM_030943.4(AMN):c.441T>C (p.Ser147=)
NM_030943.4(AMN):c.454G>A (p.Val152Met)
NM_030943.4(AMN):c.456G>A (p.Val152=)
NM_030943.4(AMN):c.459G>C (p.Gly153=) rs1286684210
NM_030943.4(AMN):c.462C>T (p.Leu154=)
NM_030943.4(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.4(AMN):c.46C>T (p.Leu16=)
NM_030943.4(AMN):c.480C>A (p.Pro160=)
NM_030943.4(AMN):c.480C>T (p.Pro160=)
NM_030943.4(AMN):c.481G>T (p.Val161Leu)
NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln)
NM_030943.4(AMN):c.493dup (p.Ser165fs)
NM_030943.4(AMN):c.504T>A (p.Ala168=)
NM_030943.4(AMN):c.510C>A (p.Gly170=)
NM_030943.4(AMN):c.513+14G>A
NM_030943.4(AMN):c.513+16A>C
NM_030943.4(AMN):c.513+19del
NM_030943.4(AMN):c.513+2T>C
NM_030943.4(AMN):c.513+2del
NM_030943.4(AMN):c.513+8C>G
NM_030943.4(AMN):c.513+8C>T rs764938272
NM_030943.4(AMN):c.514-15C>A
NM_030943.4(AMN):c.514-15C>T
NM_030943.4(AMN):c.514-19G>A
NM_030943.4(AMN):c.514-34G>A rs144077391
NM_030943.4(AMN):c.514-34G>C rs144077391
NM_030943.4(AMN):c.514-4G>C
NM_030943.4(AMN):c.514-4G>T
NM_030943.4(AMN):c.514-7C>T
NM_030943.4(AMN):c.516G>C (p.Thr172=)
NM_030943.4(AMN):c.522G>A (p.Thr174=)
NM_030943.4(AMN):c.525C>T (p.Arg175=)
NM_030943.4(AMN):c.534_535dup (p.Leu179fs)
NM_030943.4(AMN):c.545del (p.Phe182fs)
NM_030943.4(AMN):c.555C>T (p.Ser185=)
NM_030943.4(AMN):c.558C>T (p.Arg186=)
NM_030943.4(AMN):c.561G>A (p.Ala187=)
NM_030943.4(AMN):c.56C>T (p.Ala19Val) rs979571435
NM_030943.4(AMN):c.579C>T (p.His193=)
NM_030943.4(AMN):c.57G>A (p.Ala19=) rs145328398
NM_030943.4(AMN):c.582G>T (p.Gly194=)
NM_030943.4(AMN):c.587del (p.Gly196fs)
NM_030943.4(AMN):c.58del (p.Val20fs)
NM_030943.4(AMN):c.591G>T (p.Ala197=)
NM_030943.4(AMN):c.597C>T (p.Ser199=)
NM_030943.4(AMN):c.600G>A (p.Val200=)
NM_030943.4(AMN):c.603C>T (p.Gly201=)
NM_030943.4(AMN):c.618G>A (p.Ala206=)
NM_030943.4(AMN):c.618G>C (p.Ala206=)
NM_030943.4(AMN):c.627G>A (p.Ser209=)
NM_030943.4(AMN):c.62C>T (p.Ser21Phe)
NM_030943.4(AMN):c.630C>T (p.Gly210=)
NM_030943.4(AMN):c.633C>T (p.Cys211=)
NM_030943.4(AMN):c.651+10G>A
NM_030943.4(AMN):c.651+12C>A
NM_030943.4(AMN):c.651+13G>T
NM_030943.4(AMN):c.651+15A>C
NM_030943.4(AMN):c.651+16G>T
NM_030943.4(AMN):c.651+1G>T
NM_030943.4(AMN):c.651+9G>A
NM_030943.4(AMN):c.652-10C>T
NM_030943.4(AMN):c.652-12C>T
NM_030943.4(AMN):c.652-14G>A
NM_030943.4(AMN):c.652-14G>T rs949145775
NM_030943.4(AMN):c.652-20A>G
NM_030943.4(AMN):c.652-2A>G
NM_030943.4(AMN):c.652-4C>T
NM_030943.4(AMN):c.660G>A (p.Pro220=)
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.4(AMN):c.669C>A (p.Cys223Ter)
NM_030943.4(AMN):c.672G>A (p.Ala224=)
NM_030943.4(AMN):c.672G>T (p.Ala224=)
NM_030943.4(AMN):c.678G>A (p.Leu226=)
NM_030943.4(AMN):c.682C>G (p.Gln228Glu) rs1163522093
NM_030943.4(AMN):c.683_705dup (p.Gln236fs)
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.4(AMN):c.687C>T (p.Pro229=)
NM_030943.4(AMN):c.690G>A (p.Leu230=)
NM_030943.4(AMN):c.693C>T (p.Gly231=)
NM_030943.4(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.4(AMN):c.702C>T (p.Cys234=)
NM_030943.4(AMN):c.705C>A (p.Pro235=)
NM_030943.4(AMN):c.705C>G (p.Pro235=)
NM_030943.4(AMN):c.711C>T (p.Ala237=)
NM_030943.4(AMN):c.712G>A (p.Ala238Thr)
NM_030943.4(AMN):c.723C>T (p.Ser241=)
NM_030943.4(AMN):c.732G>A (p.Arg244=)
NM_030943.4(AMN):c.73del (p.Val25fs)
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.4(AMN):c.753C>T (p.Asp251=)
NM_030943.4(AMN):c.754C>T (p.Leu252Phe)
NM_030943.4(AMN):c.756C>A (p.Leu252=)
NM_030943.4(AMN):c.756C>T (p.Leu252=)
NM_030943.4(AMN):c.75C>A (p.Val25=)
NM_030943.4(AMN):c.75C>T (p.Val25=)
NM_030943.4(AMN):c.760+12C>T
NM_030943.4(AMN):c.760+15C>T
NM_030943.4(AMN):c.760+16G>A
NM_030943.4(AMN):c.760+18G>A
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_030943.4(AMN):c.760+8C>T
NM_030943.4(AMN):c.760+9C>T
NM_030943.4(AMN):c.761-14C>T
NM_030943.4(AMN):c.761-20C>A
NM_030943.4(AMN):c.761-20C>T
NM_030943.4(AMN):c.761-4G>A
NM_030943.4(AMN):c.761-8C>G
NM_030943.4(AMN):c.761-9C>A
NM_030943.4(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.4(AMN):c.762A>G (p.Gly254=)
NM_030943.4(AMN):c.775C>T (p.Leu259=)
NM_030943.4(AMN):c.780C>A (p.Thr260=)
NM_030943.4(AMN):c.783C>T (p.His261=)
NM_030943.4(AMN):c.789C>T (p.Pro263=)
NM_030943.4(AMN):c.78del (p.Asn27fs)
NM_030943.4(AMN):c.791dup (p.Phe265fs) rs2139311251
NM_030943.4(AMN):c.798C>T (p.Asp266=)
NM_030943.4(AMN):c.801G>C (p.Leu267=) rs1163660664
NM_030943.4(AMN):c.806G>T (p.Arg269Leu)
NM_030943.4(AMN):c.816G>A (p.Ala272=)
NM_030943.4(AMN):c.81C>T (p.Asn27=)
NM_030943.4(AMN):c.831C>T (p.Thr277=)
NM_030943.4(AMN):c.843+10C>A
NM_030943.4(AMN):c.843+11del rs1467152225
NM_030943.4(AMN):c.843+13C>G
NM_030943.4(AMN):c.843+13C>T
NM_030943.4(AMN):c.843+14G>A
NM_030943.4(AMN):c.843+15C>T
NM_030943.4(AMN):c.843+20A>G
NM_030943.4(AMN):c.843+7G>A
NM_030943.4(AMN):c.844-11C>T
NM_030943.4(AMN):c.844-13T>A
NM_030943.4(AMN):c.844-15C>T
NM_030943.4(AMN):c.844-17C>G
NM_030943.4(AMN):c.844-17C>T
NM_030943.4(AMN):c.844-18C>A
NM_030943.4(AMN):c.855C>G (p.His285Gln)
NM_030943.4(AMN):c.855C>T (p.His285=)
NM_030943.4(AMN):c.861G>C (p.Leu287=)
NM_030943.4(AMN):c.862C>T (p.Gln288Ter)
NM_030943.4(AMN):c.864G>T (p.Gln288His)
NM_030943.4(AMN):c.870C>T (p.Ala290=)
NM_030943.4(AMN):c.873_874dup (p.Ser292fs) rs2139311797
NM_030943.4(AMN):c.888C>G (p.Arg296=)
NM_030943.4(AMN):c.890C>A (p.Ser297Ter)
NM_030943.4(AMN):c.892T>C (p.Ser298Pro)
NM_030943.4(AMN):c.914C>T (p.Thr305Met)
NM_030943.4(AMN):c.915G>A (p.Thr305=)
NM_030943.4(AMN):c.918G>A (p.Glu306=)
NM_030943.4(AMN):c.921C>T (p.Ile307=)
NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr)
NM_030943.4(AMN):c.945G>T (p.Gly315=)
NM_030943.4(AMN):c.948del (p.Glu317fs) rs2139312056
NM_030943.4(AMN):c.954A>C (p.Thr318=)
NM_030943.4(AMN):c.954A>G (p.Thr318=)
NM_030943.4(AMN):c.957C>A (p.Gly319=)
NM_030943.4(AMN):c.967C>A (p.Arg323=)
NM_030943.4(AMN):c.967C>T (p.Arg323Trp)
NM_030943.4(AMN):c.968_975del (p.Arg323fs)
NM_030943.4(AMN):c.96C>T (p.Val32=)
NM_030943.4(AMN):c.972G>A (p.Leu324=)
NM_030943.4(AMN):c.974_977dup (p.Ala327fs) rs386834179
NM_030943.4(AMN):c.975C>T (p.Ala325=)
NM_030943.4(AMN):c.987G>A (p.Leu329=)
NM_030943.4(AMN):c.990G>A (p.Ala330=)
NM_030943.4(AMN):c.998C>G (p.Ala333Gly)
NM_032043.2(BRIP1):c.1474-7C>A rs886041146
NM_032043.2(BRIP1):c.1780_1781inv (p.Leu594Lys)
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs) rs1555580957
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle) rs1555572724
NM_032043.2(BRIP1):c.3599delinsTT (p.His1200fs) rs1555572516
NM_032043.2(BRIP1):c.630_637delCCCTGGCC rs1603347058
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.3(BRIP1):c.*1048_*1050del rs564290244
NM_032043.3(BRIP1):c.*1255AG[1] rs886053209
NM_032043.3(BRIP1):c.*1381G>T rs886053208
NM_032043.3(BRIP1):c.*1409T>A rs554933640
NM_032043.3(BRIP1):c.*158T>C rs1978111
NM_032043.3(BRIP1):c.*1801T>G rs1479468180
NM_032043.3(BRIP1):c.*1930G>C rs2061267341
NM_032043.3(BRIP1):c.*2672G>A rs924486012
NM_032043.3(BRIP1):c.*2715C>T rs886053203
NM_032043.3(BRIP1):c.*2744A>G rs1311178838
NM_032043.3(BRIP1):c.*2756G>A rs182264505
NM_032043.3(BRIP1):c.*2811_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2812_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2813_*2815A[4]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[6]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.3(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.3(BRIP1):c.*2868A>G rs1044791743
NM_032043.3(BRIP1):c.*288A>G rs886053213
NM_032043.3(BRIP1):c.*2908C>T rs549941795
NM_032043.3(BRIP1):c.*2926T>A rs886053201
NM_032043.3(BRIP1):c.*3093A>T rs944576811
NM_032043.3(BRIP1):c.*3114del rs35235448
NM_032043.3(BRIP1):c.*3145A>G rs886053200
NM_032043.3(BRIP1):c.*3821A>G rs886053197
NM_032043.3(BRIP1):c.*3918C>T rs886053196
NM_032043.3(BRIP1):c.*394CT[1] rs546666211
NM_032043.3(BRIP1):c.*421C>T rs886053211
NM_032043.3(BRIP1):c.*612A>G rs2061285626
NM_032043.3(BRIP1):c.*684C>A rs2061284724
NM_032043.3(BRIP1):c.-232G>A rs2078998991
NM_032043.3(BRIP1):c.-31+498_187del
NM_032043.3(BRIP1):c.-38C>T rs371225829
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.3(BRIP1):c.1001C>G (p.Ala334Gly)
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.3(BRIP1):c.1006G>A (p.Asp336Asn)
NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)
NM_032043.3(BRIP1):c.1008T>C (p.Asp336=) rs876660706
NM_032043.3(BRIP1):c.1009A>G (p.Ile337Val) rs1365389773
NM_032043.3(BRIP1):c.1009A>T (p.Ile337Leu)
NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly) rs2145852980
NM_032043.3(BRIP1):c.1010T>C (p.Ile337Thr) rs2077990704
NM_032043.3(BRIP1):c.1011A>C (p.Ile337=) rs2145338037
NM_032043.3(BRIP1):c.1012G>A (p.Glu338Lys) rs777653224
NM_032043.3(BRIP1):c.1012G>C (p.Glu338Gln)
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.3(BRIP1):c.1015G>A (p.Glu339Lys) rs2145337853
NM_032043.3(BRIP1):c.1017A>G (p.Glu339=)
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.3(BRIP1):c.1019T>C (p.Leu340Pro)
NM_032043.3(BRIP1):c.1021G>A (p.Val341Ile) rs863224797
NM_032043.3(BRIP1):c.1022T>G (p.Val341Gly) rs2145337483
NM_032043.3(BRIP1):c.1024A>C (p.Ser342Arg) rs1603343284
NM_032043.3(BRIP1):c.1026C>T (p.Ser342=) rs1603343281
NM_032043.3(BRIP1):c.1028T>C (p.Leu343Pro) rs1414803437
NM_032043.3(BRIP1):c.102A>G (p.Arg34=)
NM_032043.3(BRIP1):c.1030G>A (p.Gly344Arg) rs1555607734
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu) rs751841684
NM_032043.3(BRIP1):c.1032G>A (p.Gly344=) rs1468683560
NM_032043.3(BRIP1):c.1032GAA[1] (p.Lys346del) rs2145336622
NM_032043.3(BRIP1):c.1034A>C (p.Lys345Thr) rs2077989830
NM_032043.3(BRIP1):c.1034A>G (p.Lys345Arg) rs2077989830
NM_032043.3(BRIP1):c.1035G>A (p.Lys345=) rs2145336644
NM_032043.3(BRIP1):c.1036A>G (p.Lys346Glu)
NM_032043.3(BRIP1):c.1039C>T (p.Leu347=) rs2145336515
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.3(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.3(BRIP1):c.1041A>G (p.Leu347=) rs1555607724
NM_032043.3(BRIP1):c.1045G>A (p.Ala349Thr) rs149364097
NM_032043.3(BRIP1):c.1045G>T (p.Ala349Ser) rs149364097
NM_032043.3(BRIP1):c.1046C>T (p.Ala349Val) rs1184306036
NM_032043.3(BRIP1):c.1047C>A (p.Ala349=) rs763189201
NM_032043.3(BRIP1):c.1048T>C (p.Cys350Arg) rs876658173
NM_032043.3(BRIP1):c.1048T>G (p.Cys350Gly) rs876658173
NM_032043.3(BRIP1):c.1049G>A (p.Cys350Tyr)
NM_032043.3(BRIP1):c.1050T>C (p.Cys350=) rs1555607717
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs) rs1603343235
NM_032043.3(BRIP1):c.1056T>C (p.Tyr352=)
NM_032043.3(BRIP1):c.1058A>C (p.Tyr353Ser) rs2077989056
NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter) rs2145335621
NM_032043.3(BRIP1):c.105A>G (p.Gly35=) rs2145852819
NM_032043.3(BRIP1):c.1060A>G (p.Thr354Ala) rs2145335496
NM_032043.3(BRIP1):c.1065C>T (p.Ala355=) rs1222801209
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly) rs730881633
NM_032043.3(BRIP1):c.1067G>A (p.Arg356Gln) rs1289648562
NM_032043.3(BRIP1):c.1069G>A (p.Glu357Lys) rs769081927
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter) rs769081927
NM_032043.3(BRIP1):c.1072C>A (p.Leu358Ile) rs775191379
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs) rs2145334953
NM_032043.3(BRIP1):c.1076T>C (p.Ile359Thr) rs2145334735
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter) rs2145334576
NM_032043.3(BRIP1):c.107T>C (p.Leu36Ser) rs1060501767
NM_032043.3(BRIP1):c.1080A>G (p.Gln360=)
NM_032043.3(BRIP1):c.1081G>A (p.Asp361Asn) rs1060501737
NM_032043.3(BRIP1):c.1081G>T (p.Asp361Tyr) rs1060501737
NM_032043.3(BRIP1):c.1086T>C (p.Ala362=)
NM_032043.3(BRIP1):c.108A>C (p.Leu36Phe) rs774586397
NM_032043.3(BRIP1):c.108A>G (p.Leu36=) rs774586397
NM_032043.3(BRIP1):c.1090A>G (p.Ile364Val) rs770306753
NM_032043.3(BRIP1):c.1091T>C (p.Ile364Thr) rs2077987772
NM_032043.3(BRIP1):c.1092C>T (p.Ile364=) rs1555607674
NM_032043.3(BRIP1):c.1093A>C (p.Ile365Leu) rs749251680
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val) rs749251680
NM_032043.3(BRIP1):c.1098T>G (p.Phe366Leu)
NM_032043.3(BRIP1):c.1099T>C (p.Cys367Arg) rs1567831592
NM_032043.3(BRIP1):c.1102C>T (p.Pro368Ser) rs1555607669
NM_032043.3(BRIP1):c.1103C>T (p.Pro368Leu)
NM_032043.3(BRIP1):c.1104C>T (p.Pro368=) rs1555607667
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
NM_032043.3(BRIP1):c.1106A>C (p.Tyr369Ser) rs786202218
NM_032043.3(BRIP1):c.1106A>G (p.Tyr369Cys) rs786202218
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter) rs1489355776
NM_032043.3(BRIP1):c.1107C>T (p.Tyr369=) rs1489355776
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs) rs1567831477
NM_032043.3(BRIP1):c.110A>G (p.Asn37Ser) rs876659105
NM_032043.3(BRIP1):c.1110C>T (p.Asn370=)
NM_032043.3(BRIP1):c.1112A>G (p.Tyr371Cys) rs1060501768
NM_032043.3(BRIP1):c.1112A>T (p.Tyr371Phe)
NM_032043.3(BRIP1):c.1113T>C (p.Tyr371=) rs2145332634
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile) rs786202637
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs) rs587783377
NM_032043.3(BRIP1):c.1116T>A (p.Leu372=)
NM_032043.3(BRIP1):c.1116T>C (p.Leu372=) rs2077986700
NM_032043.3(BRIP1):c.1119A>G (p.Leu373=)
NM_032043.3(BRIP1):c.1122T>A (p.Asp374Glu)
NM_032043.3(BRIP1):c.1123G>A (p.Ala375Thr) rs878855135
NM_032043.3(BRIP1):c.1124C>T (p.Ala375Val) rs786202192
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter) rs1028347439
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.1128A>G (p.Gln376=)
NM_032043.3(BRIP1):c.1129A>G (p.Ile377Val) rs876659688
NM_032043.3(BRIP1):c.112A>G (p.Ser38Gly) rs2145852551
NM_032043.3(BRIP1):c.112dup (p.Ser38fs) rs2078951497
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met) rs927733243
NM_032043.3(BRIP1):c.1131A>T (p.Ile377=) rs927733243
NM_032043.3(BRIP1):c.1133G>A (p.Arg378Lys) rs1555607637
NM_032043.3(BRIP1):c.1136A>G (p.Glu379Gly) rs1555607635
NM_032043.3(BRIP1):c.1138A>G (p.Ser380Gly) rs1555607633
NM_032043.3(BRIP1):c.1138del (p.Ser380fs) rs2077985927
NM_032043.3(BRIP1):c.1139G>A (p.Ser380Asn) rs569696977
NM_032043.3(BRIP1):c.1139G>T (p.Ser380Ile) rs569696977
NM_032043.3(BRIP1):c.113G>A (p.Ser38Asn) rs1555618429
NM_032043.3(BRIP1):c.1140+10T>C rs1060504332
NM_032043.3(BRIP1):c.1140+10T>G rs1060504332
NM_032043.3(BRIP1):c.1140+11G>T
NM_032043.3(BRIP1):c.1140+13G>A
NM_032043.3(BRIP1):c.1140+13G>C
NM_032043.3(BRIP1):c.1140+1G>A rs1555607628
NM_032043.3(BRIP1):c.1140+3G>A rs1322162359
NM_032043.3(BRIP1):c.1140+3G>T rs1322162359
NM_032043.3(BRIP1):c.1140+4A>T rs2077985597
NM_032043.3(BRIP1):c.1140+7A>G rs1299846526
NM_032043.3(BRIP1):c.1140+7AT[3]
NM_032043.3(BRIP1):c.1140+9A>G rs2145330850
NM_032043.3(BRIP1):c.1141-12T>C
NM_032043.3(BRIP1):c.1141-14C>A rs2077954619
NM_032043.3(BRIP1):c.1141-14C>T
NM_032043.3(BRIP1):c.1141-15T>C rs2145311075
NM_032043.3(BRIP1):c.1141-2A>C
NM_032043.3(BRIP1):c.1141-2A>T rs769583916
NM_032043.3(BRIP1):c.1141-3T>C rs773264592
NM_032043.3(BRIP1):c.1141-4A>T rs1226658018
NM_032043.3(BRIP1):c.1141-5T>A rs1060501760
NM_032043.3(BRIP1):c.1141-6T>A
NM_032043.3(BRIP1):c.1141-6T>C rs876661277
NM_032043.3(BRIP1):c.1141-7C>G rs1603342384
NM_032043.3(BRIP1):c.1141-7_1141-3del rs1060501744
NM_032043.3(BRIP1):c.1141-8T>C
NM_032043.3(BRIP1):c.1141-9A>G rs1555607258
NM_032043.3(BRIP1):c.1142T>A (p.Met381Lys) rs1060501741
NM_032043.3(BRIP1):c.1142T>C (p.Met381Thr) rs1060501741
NM_032043.3(BRIP1):c.1144G>A (p.Asp382Asn) rs1452168198
NM_032043.3(BRIP1):c.1144G>T (p.Asp382Tyr)
NM_032043.3(BRIP1):c.1147T>G (p.Leu383Val) rs1603342360
NM_032043.3(BRIP1):c.114C>A (p.Ser38Arg) rs2078951392
NM_032043.3(BRIP1):c.114C>T (p.Ser38=) rs2078951392
NM_032043.3(BRIP1):c.1150A>T (p.Asn384Tyr) rs1603342354
NM_032043.3(BRIP1):c.1151A>G (p.Asn384Ser) rs1060501750
NM_032043.3(BRIP1):c.1153C>T (p.Leu385=)
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer) rs1603342339
NM_032043.3(BRIP1):c.1156A>G (p.Lys386Glu) rs730881635
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter) rs730881635
NM_032043.3(BRIP1):c.1158A>G (p.Lys386=) rs1567829719
NM_032043.3(BRIP1):c.1158del (p.Glu387fs) rs2145309797
NM_032043.3(BRIP1):c.1159G>A (p.Glu387Lys) rs1555607230
NM_032043.3(BRIP1):c.1161A>G (p.Glu387=) rs2145309623
NM_032043.3(BRIP1):c.1161_1163del (p.Gln388del) rs2145309517
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter) rs1304655615
NM_032043.3(BRIP1):c.1164G>A (p.Gln388=) rs1603342334
NM_032043.3(BRIP1):c.1164G>T (p.Gln388His) rs1603342334
NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile) rs587780825
NM_032043.3(BRIP1):c.1165G>C (p.Val389Leu) rs587780825
NM_032043.3(BRIP1):c.1165G>T (p.Val389Phe) rs587780825
NM_032043.3(BRIP1):c.1166T>C (p.Val389Ala) rs2145309289
NM_032043.3(BRIP1):c.1166T>G (p.Val389Gly)
NM_032043.3(BRIP1):c.1167T>C (p.Val389=)
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
NM_032043.3(BRIP1):c.1168G>A (p.Val390Ile) rs781168634
NM_032043.3(BRIP1):c.1168G>T (p.Val390Phe) rs781168634
NM_032043.3(BRIP1):c.1170C>T (p.Val390=) rs754755989
NM_032043.3(BRIP1):c.1173T>G (p.Ile391Met) rs1427603031
NM_032043.3(BRIP1):c.1177G>C (p.Asp393His) rs1555607200
NM_032043.3(BRIP1):c.1180G>C (p.Glu394Gln) rs2077952602
NM_032043.3(BRIP1):c.1182A>G (p.Glu394=) rs1555607195
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
NM_032043.3(BRIP1):c.1183G>A (p.Ala395Thr) rs2077952484
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val) rs778992385
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp) rs1603342316
NM_032043.3(BRIP1):c.1188T>C (p.His396=) rs1555607189
NM_032043.3(BRIP1):c.1189A>C (p.Asn397His) rs587782039
NM_032043.3(BRIP1):c.118C>G (p.Gln40Glu)
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
NM_032043.3(BRIP1):c.1190A>T (p.Asn397Ile)
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs) rs2145307730
NM_032043.3(BRIP1):c.1193T>G (p.Ile398Ser) rs2145307952
NM_032043.3(BRIP1):c.1195G>C (p.Glu399Gln) rs587782816
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs) rs2077951770
NM_032043.3(BRIP1):c.1197G>C (p.Glu399Asp) rs1567829526
NM_032043.3(BRIP1):c.119A>C (p.Gln40Pro) rs2078951315
NM_032043.3(BRIP1):c.11T>C (p.Met4Thr) rs2078973570
NM_032043.3(BRIP1):c.1200C>T (p.Asp400=) rs1555607173
NM_032043.3(BRIP1):c.1201T>C (p.Cys401Arg) rs756636362
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs) rs730881647
NM_032043.3(BRIP1):c.1205C>T (p.Ala402Val) rs876659282
NM_032043.3(BRIP1):c.1206T>C (p.Ala402=) rs1203573533
NM_032043.3(BRIP1):c.1207C>A (p.Arg403=) rs369631413
NM_032043.3(BRIP1):c.1207C>G (p.Arg403Gly) rs369631413
NM_032043.3(BRIP1):c.1209G>A (p.Arg403=) rs2077951084
NM_032043.3(BRIP1):c.1212A>G (p.Glu404=) rs2145306711
NM_032043.3(BRIP1):c.1219A>G (p.Ser407Gly) rs1555607156
NM_032043.3(BRIP1):c.121C>T (p.His41Tyr) rs770930270
NM_032043.3(BRIP1):c.1221T>G (p.Ser407Arg) rs2077950726
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs) rs1603342258
NM_032043.3(BRIP1):c.1224C>T (p.Tyr408=)
NM_032043.3(BRIP1):c.1225A>G (p.Ser409Gly)
NM_032043.3(BRIP1):c.1226G>A (p.Ser409Asn) rs587782247
NM_032043.3(BRIP1):c.1226G>C (p.Ser409Thr) rs587782247
NM_032043.3(BRIP1):c.1227T>C (p.Ser409=) rs1555607150
NM_032043.3(BRIP1):c.1228G>A (p.Val410Ile) rs2145305888
NM_032043.3(BRIP1):c.1228G>C (p.Val410Leu)
NM_032043.3(BRIP1):c.1230A>C (p.Val410=) rs2145305804
NM_032043.3(BRIP1):c.1233A>G (p.Thr411=)
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.1236A>G (p.Glu412=)
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.1237G>C (p.Val413Leu) rs2145305445
NM_032043.3(BRIP1):c.1238T>C (p.Val413Ala) rs45576134
NM_032043.3(BRIP1):c.1239T>C (p.Val413=)
NM_032043.3(BRIP1):c.123T>C (p.His41=)
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs) rs2077949826
NM_032043.3(BRIP1):c.1242G>C (p.Gln414His) rs1257200897
NM_032043.3(BRIP1):c.1247G>T (p.Arg416Leu)
NM_032043.3(BRIP1):c.124T>C (p.Cys42Arg) rs1567877037
NM_032043.3(BRIP1):c.124T>G (p.Cys42Gly) rs1567877037
NM_032043.3(BRIP1):c.1250T>A (p.Phe417Tyr)
NM_032043.3(BRIP1):c.1251T>A (p.Phe417Leu) rs2077949494
NM_032043.3(BRIP1):c.1252G>A (p.Ala418Thr)
NM_032043.3(BRIP1):c.1252G>T (p.Ala418Ser) rs1567829310
NM_032043.3(BRIP1):c.1255C>G (p.Arg419Gly) rs150624408
NM_032043.3(BRIP1):c.1256G>C (p.Arg419Pro)
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer) rs2077948208
NM_032043.3(BRIP1):c.1257G>T (p.Arg419=)
NM_032043.3(BRIP1):c.1258G>A (p.Asp420Asn) rs2077949084
NM_032043.3(BRIP1):c.125G>T (p.Cys42Phe) rs1555618423
NM_032043.3(BRIP1):c.1261G>A (p.Glu421Lys) rs2077949016
NM_032043.3(BRIP1):c.1262A>T (p.Glu421Val) rs2077948964
NM_032043.3(BRIP1):c.1263A>G (p.Glu421=) rs864622423
NM_032043.3(BRIP1):c.1264C>T (p.Leu422=) rs768633507
NM_032043.3(BRIP1):c.1266A>C (p.Leu422=) rs1484320639
NM_032043.3(BRIP1):c.1266A>T (p.Leu422=) rs1484320639
NM_032043.3(BRIP1):c.1267G>C (p.Asp423His)
NM_032043.3(BRIP1):c.1269T>C (p.Asp423=) rs954885174
NM_032043.3(BRIP1):c.1270A>C (p.Ser424Arg) rs1028779004
NM_032043.3(BRIP1):c.1270A>G (p.Ser424Gly) rs1028779004
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs) rs2145303552
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn) rs1354610577
NM_032043.3(BRIP1):c.1272T>C (p.Ser424=)
NM_032043.3(BRIP1):c.1273A>G (p.Met425Val) rs1567829230
NM_032043.3(BRIP1):c.1274T>C (p.Met425Thr)
NM_032043.3(BRIP1):c.1275G>A (p.Met425Ile) rs1555607086
NM_032043.3(BRIP1):c.127T>C (p.Leu43=) rs1603367726
NM_032043.3(BRIP1):c.1280A>G (p.Asn427Ser) rs1466605276
NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr) rs779237423
NM_032043.3(BRIP1):c.1285A>C (p.Asn429His)
NM_032043.3(BRIP1):c.1285A>G (p.Asn429Asp) rs1555607082
NM_032043.3(BRIP1):c.1287T>C (p.Asn429=) rs863224431
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
NM_032043.3(BRIP1):c.1288A>G (p.Ile430Val) rs1567829158
NM_032043.3(BRIP1):c.1288A>T (p.Ile430Leu) rs1567829158
NM_032043.3(BRIP1):c.1289T>A (p.Ile430Lys)
NM_032043.3(BRIP1):c.1289T>C (p.Ile430Thr) rs1555607077
NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter) rs2145302423
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.1291A>T (p.Arg431Trp)
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
NM_032043.3(BRIP1):c.1292G>A (p.Arg431Lys) rs1328630889
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter) rs1555607070
NM_032043.3(BRIP1):c.1296G>A (p.Lys432=) rs757400610
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs) rs2077947183
NM_032043.3(BRIP1):c.129G>T (p.Leu43Phe) rs2145852056
NM_032043.3(BRIP1):c.12G>A (p.Met4Ile) rs1386396228
NM_032043.3(BRIP1):c.1301A>C (p.Asp434Ala) rs1567829117
NM_032043.3(BRIP1):c.1301A>G (p.Asp434Gly) rs1567829117
NM_032043.3(BRIP1):c.1301A>T (p.Asp434Val) rs1567829117
NM_032043.3(BRIP1):c.1302T>C (p.Asp434=)
NM_032043.3(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.3(BRIP1):c.1305T>C (p.His435=) rs1352266926
NM_032043.3(BRIP1):c.1305T>G (p.His435Gln) rs1352266926
NM_032043.3(BRIP1):c.1307A>T (p.Glu436Val)
NM_032043.3(BRIP1):c.1308A>G (p.Glu436=) rs2145301245
NM_032043.3(BRIP1):c.1309C>G (p.Pro437Ala) rs878855137
NM_032043.3(BRIP1):c.130T>C (p.Leu44=) rs758270108
NM_032043.3(BRIP1):c.1311C>T (p.Pro437=) rs1060504327
NM_032043.3(BRIP1):c.1313T>C (p.Leu438Pro) rs1555607056
NM_032043.3(BRIP1):c.1315C>A (p.Arg439=) rs587780226
NM_032043.3(BRIP1):c.1318G>T (p.Ala440Ser) rs2145300568
NM_032043.3(BRIP1):c.1320T>C (p.Ala440=)
NM_032043.3(BRIP1):c.1322T>G (p.Val441Gly) rs1458068665
NM_032043.3(BRIP1):c.1323G>A (p.Val441=)
NM_032043.3(BRIP1):c.1324T>C (p.Cys442Arg) rs1603342146
NM_032043.3(BRIP1):c.1324T>G (p.Cys442Gly)
NM_032043.3(BRIP1):c.1325G>C (p.Cys442Ser) rs1555607040
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter) rs2145300052
NM_032043.3(BRIP1):c.1327T>C (p.Cys443Arg)
NM_032043.3(BRIP1):c.1328G>A (p.Cys443Tyr) rs1555607035
NM_032043.3(BRIP1):c.1329T>C (p.Cys443=) rs2145299845
NM_032043.3(BRIP1):c.1330A>G (p.Ser444Gly)
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr) rs1603342140
NM_032043.3(BRIP1):c.1332C>A (p.Ser444Arg) rs200581792
NM_032043.3(BRIP1):c.1332C>G (p.Ser444Arg) rs200581792
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.3(BRIP1):c.1336A>G (p.Ile446Val) rs786203496
NM_032043.3(BRIP1):c.1337T>C (p.Ile446Thr) rs1555607024
NM_032043.3(BRIP1):c.1339A>C (p.Asn447His) rs2077945752
NM_032043.3(BRIP1):c.133G>A (p.Glu45Lys) rs587781292
NM_032043.3(BRIP1):c.133G>C (p.Glu45Gln) rs587781292
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1340+11T>C
NM_032043.3(BRIP1):c.1340+13G>A rs762531109
NM_032043.3(BRIP1):c.1340+13G>T
NM_032043.3(BRIP1):c.1340+14T>C rs1057522789
NM_032043.3(BRIP1):c.1340+17A>T
NM_032043.3(BRIP1):c.1340+18T>A
NM_032043.3(BRIP1):c.1340+19T>C rs2077944993
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1340+20A>G rs2145298307
NM_032043.3(BRIP1):c.1340+2_1340+5del rs2077945546
NM_032043.3(BRIP1):c.1340+3A>C rs1060501770
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.1340+6A>T
NM_032043.3(BRIP1):c.1340+7_1340+9del rs1413352933
NM_032043.3(BRIP1):c.1340+8G>T rs2145298781
NM_032043.3(BRIP1):c.1340+9A>G rs376487588
NM_032043.3(BRIP1):c.1340+9A>T rs376487588
NM_032043.3(BRIP1):c.1340A>C (p.Asn447Thr) rs1603342134
NM_032043.3(BRIP1):c.1341-16T>C
NM_032043.3(BRIP1):c.1341-17G>T rs2145245872
NM_032043.3(BRIP1):c.1341-17_1341-13del rs2077857551
NM_032043.3(BRIP1):c.1341-18del
NM_032043.3(BRIP1):c.1341-19T>C
NM_032043.3(BRIP1):c.1341-1G>C
NM_032043.3(BRIP1):c.1341-20del rs2145245949
NM_032043.3(BRIP1):c.1341-2A>C
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1341-5T>C
NM_032043.3(BRIP1):c.1341-6T>G
NM_032043.3(BRIP1):c.1341-7A>G rs2145245603
NM_032043.3(BRIP1):c.1341-8_1341-4del rs1555605965
NM_032043.3(BRIP1):c.1341-8del rs1567825391
NM_032043.3(BRIP1):c.1343G>T (p.Trp448Leu) rs775171520
NM_032043.3(BRIP1):c.1347A>G (p.Leu449=)
NM_032043.3(BRIP1):c.1348G>A (p.Glu450Lys) rs2077857156
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val) rs771861055
NM_032043.3(BRIP1):c.1354A>G (p.Asn452Asp) rs2077857017
NM_032043.3(BRIP1):c.1356C>G (p.Asn452Lys) rs730881640
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs) rs2145243883
NM_032043.3(BRIP1):c.1359T>C (p.Ala453=) rs2145244570
NM_032043.3(BRIP1):c.1360G>A (p.Glu454Lys)
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.3(BRIP1):c.1361A>C (p.Glu454Ala) rs769918040
NM_032043.3(BRIP1):c.1362A>C (p.Glu454Asp) rs786202553
NM_032043.3(BRIP1):c.1362A>G (p.Glu454=) rs786202553
NM_032043.3(BRIP1):c.1363T>C (p.Tyr455His) rs587780826
NM_032043.3(BRIP1):c.1364A>G (p.Tyr455Cys) rs2077856391
NM_032043.3(BRIP1):c.1366C>A (p.Leu456Ile) rs1379791142
NM_032043.3(BRIP1):c.1366C>G (p.Leu456Val)
NM_032043.3(BRIP1):c.1367T>A (p.Leu456His) rs1555605947
NM_032043.3(BRIP1):c.1368T>C (p.Leu456=) rs878855138
NM_032043.3(BRIP1):c.1369G>A (p.Val457Ile) rs748221377
NM_032043.3(BRIP1):c.1369G>T (p.Val457Leu) rs748221377
NM_032043.3(BRIP1):c.1370T>G (p.Val457Gly) rs1369274888
NM_032043.3(BRIP1):c.1371A>G (p.Val457=) rs935612010
NM_032043.3(BRIP1):c.1373A>G (p.Glu458Gly) rs1555605942
NM_032043.3(BRIP1):c.1374A>C (p.Glu458Asp) rs2145243668
NM_032043.3(BRIP1):c.1377A>G (p.Arg459=) rs780310294
NM_032043.3(BRIP1):c.1377A>T (p.Arg459Ser) rs780310294
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs) rs2145243385
NM_032043.3(BRIP1):c.137G>A (p.Ser46Asn) rs1567877002
NM_032043.3(BRIP1):c.1380T>C (p.Asp460=) rs758735370
NM_032043.3(BRIP1):c.1382A>G (p.Tyr461Cys)
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=) rs587780875
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
NM_032043.3(BRIP1):c.1384G>C (p.Glu462Gln) rs1603340353
NM_032043.3(BRIP1):c.1387T>C (p.Ser463Pro) rs1555605920
NM_032043.3(BRIP1):c.1393T>A (p.Cys465Ser)
NM_032043.3(BRIP1):c.1399A>T (p.Ile467Leu)
NM_032043.3(BRIP1):c.139C>A (p.Pro47Thr) rs28903098
NM_032043.3(BRIP1):c.13T>G (p.Trp5Gly) rs2078973498
NM_032043.3(BRIP1):c.1401A>G (p.Ile467Met) rs764979728
NM_032043.3(BRIP1):c.1402T>C (p.Trp468Arg) rs1369814158
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter) rs2145242325
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
NM_032043.3(BRIP1):c.1405A>T (p.Ser469Cys) rs2077854841
NM_032043.3(BRIP1):c.1406G>A (p.Ser469Asn)
NM_032043.3(BRIP1):c.1408G>A (p.Gly470Arg) rs1603340339
NM_032043.3(BRIP1):c.1410A>C (p.Gly470=)
NM_032043.3(BRIP1):c.1410A>G (p.Gly470=)
NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser) rs1555605906
NM_032043.3(BRIP1):c.1413T>C (p.Asn471=) rs1555605904
NM_032043.3(BRIP1):c.1414G>C (p.Glu472Gln) rs1555605902
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.3(BRIP1):c.1417del (p.Met473fs) rs2145241576
NM_032043.3(BRIP1):c.1419G>T (p.Met473Ile)
NM_032043.3(BRIP1):c.141C>T (p.Pro47=)
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.1421T>A (p.Leu474His)
NM_032043.3(BRIP1):c.1422C>T (p.Leu474=) rs1555605898
NM_032043.3(BRIP1):c.1423T>G (p.Leu475Val)
NM_032043.3(BRIP1):c.1425A>G (p.Leu475=) rs2145241141
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.1428T>C (p.Thr476=) rs1603340327
NM_032043.3(BRIP1):c.1428T>G (p.Thr476=) rs1603340327
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr) rs761452695
NM_032043.3(BRIP1):c.1433A>C (p.His478Pro) rs45501097
NM_032043.3(BRIP1):c.1434C>A (p.His478Gln) rs2077853857
NM_032043.3(BRIP1):c.1435A>G (p.Lys479Glu) rs2077853790
NM_032043.3(BRIP1):c.1436A>G (p.Lys479Arg)
NM_032043.3(BRIP1):c.1438A>G (p.Met480Val) rs1422020047
NM_032043.3(BRIP1):c.143C>G (p.Thr48Arg) rs755317452
NM_032043.3(BRIP1):c.143C>T (p.Thr48Ile) rs755317452
NM_032043.3(BRIP1):c.1440G>A (p.Met480Ile)
NM_032043.3(BRIP1):c.1440G>C (p.Met480Ile) rs1555605887
NM_032043.3(BRIP1):c.1441G>A (p.Gly481Ser) rs587780229
NM_032043.3(BRIP1):c.1442G>T (p.Gly481Val) rs200062099
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs) rs2077853451
NM_032043.3(BRIP1):c.1446C>G (p.Ile482Met) rs759360709
NM_032043.3(BRIP1):c.1446C>T (p.Ile482=) rs759360709
NM_032043.3(BRIP1):c.1448C>G (p.Thr483Ser) rs1555605874
NM_032043.3(BRIP1):c.1449C>T (p.Thr483=) rs2077853064
NM_032043.3(BRIP1):c.144A>G (p.Thr48=) rs1423058475
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
NM_032043.3(BRIP1):c.1451C>T (p.Thr484Ile) rs2145239872
NM_032043.3(BRIP1):c.1453G>A (p.Ala485Thr) rs2077853006
NM_032043.3(BRIP1):c.1453_1455del (p.Ala485del) rs2077852941
NM_032043.3(BRIP1):c.1454C>A (p.Ala485Asp)
NM_032043.3(BRIP1):c.1456A>G (p.Thr486Ala)
NM_032043.3(BRIP1):c.1457C>T (p.Thr486Ile) rs1603340296
NM_032043.3(BRIP1):c.1457del (p.Thr486fs) rs2145239498
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs) rs2145239459
NM_032043.3(BRIP1):c.1462C>T (p.Pro488Ser) rs1450320184
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs) rs1603340281
NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu) rs1237035767
NM_032043.3(BRIP1):c.1464C>T (p.Pro488=) rs1603340284
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val) rs1555605855
NM_032043.3(BRIP1):c.1469T>C (p.Leu490Ser)
NM_032043.3(BRIP1):c.1469T>G (p.Leu490Trp) rs2077852333
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
NM_032043.3(BRIP1):c.1470G>T (p.Leu490Phe) rs1567824994
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
NM_032043.3(BRIP1):c.1472A>G (p.Gln491Arg) rs1555605852
NM_032043.3(BRIP1):c.1472A>T (p.Gln491Leu) rs1555605852
NM_032043.3(BRIP1):c.1473+13_1473+14del rs876660968
NM_032043.3(BRIP1):c.1473+14T>C rs1555605845
NM_032043.3(BRIP1):c.1473+14T>G
NM_032043.3(BRIP1):c.1473+14del rs876660968
NM_032043.3(BRIP1):c.1473+14dup rs876660968
NM_032043.3(BRIP1):c.1473+15C>G rs2077851707
NM_032043.3(BRIP1):c.1473+16T>C rs1555605844
NM_032043.3(BRIP1):c.1473+1G>A rs748274524
NM_032043.3(BRIP1):c.1473+1G>C rs748274524
NM_032043.3(BRIP1):c.1473+1G>T rs748274524
NM_032043.3(BRIP1):c.1473+3A>G
NM_032043.3(BRIP1):c.1473+3A>T rs2077852092
NM_032043.3(BRIP1):c.1473+4_1473+8del rs730881650
NM_032043.3(BRIP1):c.1473+7T>C
NM_032043.3(BRIP1):c.1473+8A>G
NM_032043.3(BRIP1):c.1473+8A>T
NM_032043.3(BRIP1):c.1473G>C (p.Gln491His)
NM_032043.3(BRIP1):c.1474-10T>C rs1555603645
NM_032043.3(BRIP1):c.1474-11A>G rs1230175864
NM_032043.3(BRIP1):c.1474-12A>G
NM_032043.3(BRIP1):c.1474-12A>T
NM_032043.3(BRIP1):c.1474-13_1475del rs1555603635
NM_032043.3(BRIP1):c.1474-14G>A rs2077673537
NM_032043.3(BRIP1):c.1474-14G>T
NM_032043.3(BRIP1):c.1474-15G>A
NM_032043.3(BRIP1):c.1474-16T>C
NM_032043.3(BRIP1):c.1474-17A>G
NM_032043.3(BRIP1):c.1474-17A>T rs762049694
NM_032043.3(BRIP1):c.1474-19A>C
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474-20A>C
NM_032043.3(BRIP1):c.1474-20A>T rs1462969643
NM_032043.3(BRIP1):c.1474-2A>G rs1603337052
NM_032043.3(BRIP1):c.1474-4A>G rs2145142626
NM_032043.3(BRIP1):c.1474-5T>G
NM_032043.3(BRIP1):c.1474-7C>T rs886041146
NM_032043.3(BRIP1):c.1474-9T>G rs863224432
NM_032043.3(BRIP1):c.1474G>A (p.Gly492Arg) rs2145142389
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
NM_032043.3(BRIP1):c.1475G>T (p.Gly492Val) rs2077672955
NM_032043.3(BRIP1):c.1477C>T (p.His493Tyr) rs1555603628
NM_032043.3(BRIP1):c.1478A>T (p.His493Leu) rs1555603626
NM_032043.3(BRIP1):c.1479T>C (p.His493=) rs2077672800
NM_032043.3(BRIP1):c.147A>G (p.Gly49=) rs2145851438
NM_032043.3(BRIP1):c.1480T>C (p.Phe494Leu)
NM_032043.3(BRIP1):c.1483T>G (p.Ser495Ala) rs1555603617
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs) rs1555603622
NM_032043.3(BRIP1):c.1484C>A (p.Ser495Tyr) rs536081549
NM_032043.3(BRIP1):c.1485T>G (p.Ser495=) rs370658123
NM_032043.3(BRIP1):c.1487C>T (p.Ala496Val) rs1555603612
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs) rs747214372
NM_032043.3(BRIP1):c.1489G>A (p.Val497Ile) rs876658725
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu) rs876658725
NM_032043.3(BRIP1):c.148A>G (p.Ser50Gly) rs2078950409
NM_032043.3(BRIP1):c.1492C>A (p.Leu498Ile) rs1603337024
NM_032043.3(BRIP1):c.1493T>A (p.Leu498His) rs1555603600
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.3(BRIP1):c.1496A>G (p.Gln499Arg)
NM_032043.3(BRIP1):c.1497A>G (p.Gln499=) rs1555603597
NM_032043.3(BRIP1):c.1498A>G (p.Lys500Glu) rs2077672083
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter) rs1555618738
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)
NM_032043.3(BRIP1):c.1503G>A (p.Glu501=)
NM_032043.3(BRIP1):c.1504G>A (p.Glu502Lys)
NM_032043.3(BRIP1):c.1506A>G (p.Glu502=) rs1057523215
NM_032043.3(BRIP1):c.1507A>G (p.Lys503Glu) rs1555603594
NM_032043.3(BRIP1):c.1509A>C (p.Lys503Asn) rs1443429619
NM_032043.3(BRIP1):c.1509A>G (p.Lys503=) rs1443429619
NM_032043.3(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1511T>C (p.Ile504Thr) rs755306832
NM_032043.3(BRIP1):c.1512C>A (p.Ile504=) rs876660478
NM_032043.3(BRIP1):c.1512C>G (p.Ile504Met) rs876660478
NM_032043.3(BRIP1):c.1513T>C (p.Ser505Pro) rs1603337009
NM_032043.3(BRIP1):c.1514C>T (p.Ser505Leu) rs945661395
NM_032043.3(BRIP1):c.1515A>G (p.Ser505=) rs2145139643
NM_032043.3(BRIP1):c.1516C>A (p.Pro506Thr) rs2077671245
NM_032043.3(BRIP1):c.1516C>T (p.Pro506Ser) rs2077671245
NM_032043.3(BRIP1):c.1517C>A (p.Pro506Gln) rs2077671171
NM_032043.3(BRIP1):c.1517C>T (p.Pro506Leu)
NM_032043.3(BRIP1):c.1518A>G (p.Pro506=) rs1603337002
NM_032043.3(BRIP1):c.1519A>G (p.Ile507Val) rs1555603569
NM_032043.3(BRIP1):c.1522T>G (p.Tyr508Asp) rs2077671034
NM_032043.3(BRIP1):c.1523A>G (p.Tyr508Cys) rs1567817029
NM_032043.3(BRIP1):c.1524T>C (p.Tyr508=) rs1060504326
NM_032043.3(BRIP1):c.1526G>A (p.Gly509Asp) rs1555603567
NM_032043.3(BRIP1):c.1527T>C (p.Gly509=)
NM_032043.3(BRIP1):c.1528A>G (p.Lys510Glu) rs1603336991
NM_032043.3(BRIP1):c.1529A>C (p.Lys510Thr)
NM_032043.3(BRIP1):c.1533G>A (p.Glu511=) rs1418736430
NM_032043.3(BRIP1):c.1534G>A (p.Glu512Lys)
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter) rs1603336980
NM_032043.3(BRIP1):c.1535A>G (p.Glu512Gly)
NM_032043.3(BRIP1):c.1536G>A (p.Glu512=) rs876658531
NM_032043.3(BRIP1):c.1537del (p.Ala513fs) rs1567816997
NM_032043.3(BRIP1):c.1538C>T (p.Ala513Val)
NM_032043.3(BRIP1):c.153A>G (p.Gly51=) rs1603367703
NM_032043.3(BRIP1):c.1543G>A (p.Glu515Lys)
NM_032043.3(BRIP1):c.1543del (p.Glu515fs) rs1064793812
NM_032043.3(BRIP1):c.1545A>C (p.Glu515Asp) rs1567816977
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile) rs1567816972
NM_032043.3(BRIP1):c.1547T>A (p.Val516Glu) rs2077670264
NM_032043.3(BRIP1):c.1549C>T (p.Pro517Ser) rs1603336970
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu) rs786202169
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile) rs786201701
NM_032043.3(BRIP1):c.1553T>A (p.Val518Asp) rs1555603541
NM_032043.3(BRIP1):c.1555A>T (p.Ile519Phe) rs2145137902
NM_032043.3(BRIP1):c.1556T>C (p.Ile519Thr) rs1555603538
NM_032043.3(BRIP1):c.1558A>G (p.Ser520Gly) rs2077669665
NM_032043.3(BRIP1):c.1559G>A (p.Ser520Asn) rs757629526
NM_032043.3(BRIP1):c.1561G>A (p.Ala521Thr) rs913184257
NM_032043.3(BRIP1):c.1562C>T (p.Ala521Val) rs2077669449
NM_032043.3(BRIP1):c.1564T>C (p.Ser522Pro) rs2077669404
NM_032043.3(BRIP1):c.1566A>G (p.Ser522=) rs985465808
NM_032043.3(BRIP1):c.1567A>G (p.Thr523Ala) rs1555603510
NM_032043.3(BRIP1):c.1568C>T (p.Thr523Ile) rs1060501764
NM_032043.3(BRIP1):c.1569T>C (p.Thr523=) rs2145137253
NM_032043.3(BRIP1):c.156A>C (p.Lys52Asn) rs1603367700
NM_032043.3(BRIP1):c.156A>G (p.Lys52=) rs1603367700
NM_032043.3(BRIP1):c.1571A>C (p.Gln524Pro) rs587781726
NM_032043.3(BRIP1):c.1571A>T (p.Gln524Leu)
NM_032043.3(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu) rs1064795196
NM_032043.3(BRIP1):c.1577T>A (p.Met526Lys)
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile) rs2077668951
NM_032043.3(BRIP1):c.1580T>G (p.Leu527Arg) rs1603336934
NM_032043.3(BRIP1):c.1581T>G (p.Leu527=) rs2145136829
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu) rs748962730
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
NM_032043.3(BRIP1):c.1585G>C (p.Gly529Arg) rs876659321
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe) rs1326418771
NM_032043.3(BRIP1):c.1589T>C (p.Leu530Pro) rs1603336923
NM_032043.3(BRIP1):c.158G>A (p.Ser53Asn) rs751182362
NM_032043.3(BRIP1):c.158_159delinsTT (p.Ser53Ile) rs786202417
NM_032043.3(BRIP1):c.1591T>G (p.Phe531Val) rs4988350
NM_032043.3(BRIP1):c.1592T>C (p.Phe531Ser) rs878855139
NM_032043.3(BRIP1):c.1594A>T (p.Met532Leu)
NM_032043.3(BRIP1):c.1596G>A (p.Met532Ile) rs2145136186
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter) rs2078973424
NM_032043.3(BRIP1):c.15G>C (p.Trp5Cys) rs2078973424
NM_032043.3(BRIP1):c.1601T>C (p.Leu534Pro)
NM_032043.3(BRIP1):c.1602T>C (p.Leu534=) rs974139602
NM_032043.3(BRIP1):c.1603G>C (p.Asp535His)
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs) rs2145135739
NM_032043.3(BRIP1):c.1605C>T (p.Asp535=) rs56024614
NM_032043.3(BRIP1):c.1608T>C (p.Tyr536=) rs1603336910
NM_032043.3(BRIP1):c.1608del (p.Leu537fs) rs2145135618
NM_032043.3(BRIP1):c.1609C>G (p.Leu537Val) rs864622208
NM_032043.3(BRIP1):c.1610T>C (p.Leu537Pro) rs1567816751
NM_032043.3(BRIP1):c.1612T>C (p.Phe538Leu) rs1603336907
NM_032043.3(BRIP1):c.1614T>C (p.Phe538=) rs2145135352
NM_032043.3(BRIP1):c.1614del (p.Phe538fs) rs2077667669
NM_032043.3(BRIP1):c.1615A>C (p.Arg539=) rs1555603468
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1617G>A (p.Arg539=) rs2145135194
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter) rs1603336897
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter) rs2078949879
NM_032043.3(BRIP1):c.1620A>G (p.Gln540=) rs2145135063
NM_032043.3(BRIP1):c.1622del (p.Asn541fs) rs1603336895
NM_032043.3(BRIP1):c.1623T>G (p.Asn541Lys) rs786203897
NM_032043.3(BRIP1):c.1626_1628del (p.Ser542del) rs1555603461
NM_032043.3(BRIP1):c.1628+12T>C
NM_032043.3(BRIP1):c.1628+14A>G
NM_032043.3(BRIP1):c.1628+15C>T rs751454994
NM_032043.3(BRIP1):c.1628+17A>G
NM_032043.3(BRIP1):c.1628+19T>C
NM_032043.3(BRIP1):c.1628+1G>C rs1438975574
NM_032043.3(BRIP1):c.1628+4del
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1628+6T>C rs1567816699
NM_032043.3(BRIP1):c.1628+6T>G rs1567816699
NM_032043.3(BRIP1):c.1628+7G>A rs2077666975
NM_032043.3(BRIP1):c.1628+9A>G
NM_032043.3(BRIP1):c.1628+9A>T rs2145134529
NM_032043.3(BRIP1):c.1629-13T>C rs2145098509
NM_032043.3(BRIP1):c.1629-14T>G rs1057523831
NM_032043.3(BRIP1):c.1629-17_1652del
NM_032043.3(BRIP1):c.1629-19G>T
NM_032043.3(BRIP1):c.1629-1G>A rs1060501757
NM_032043.3(BRIP1):c.1629-1G>C rs1060501757
NM_032043.3(BRIP1):c.1629-1G>T rs1060501757
NM_032043.3(BRIP1):c.1629-3T>G
NM_032043.3(BRIP1):c.1629-498A>T rs1203185416
NM_032043.3(BRIP1):c.1629-4C>A
NM_032043.3(BRIP1):c.1629-4C>T rs747704211
NM_032043.3(BRIP1):c.1629-500G>A rs1057517645
NM_032043.3(BRIP1):c.1629-6A>G rs755767691
NM_032043.3(BRIP1):c.162A>G (p.Leu54=)
NM_032043.3(BRIP1):c.1637A>G (p.Asp546Gly) rs2077612367
NM_032043.3(BRIP1):c.1639G>T (p.Asp547Tyr)
NM_032043.3(BRIP1):c.1640A>G (p.Asp547Gly) rs2077612324
NM_032043.3(BRIP1):c.1643A>C (p.Tyr548Ser) rs587782405
NM_032043.3(BRIP1):c.1643A>G (p.Tyr548Cys) rs587782405
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs) rs1555602638
NM_032043.3(BRIP1):c.1647A>G (p.Lys549=)
NM_032043.3(BRIP1):c.164C>T (p.Ala55Val) rs1603367684
NM_032043.3(BRIP1):c.1651G>C (p.Ala551Pro) rs766302517
NM_032043.3(BRIP1):c.1652C>T (p.Ala551Val) rs375246789
NM_032043.3(BRIP1):c.1653G>A (p.Ala551=) rs750213758
NM_032043.3(BRIP1):c.1653G>T (p.Ala551=) rs750213758
NM_032043.3(BRIP1):c.1654A>G (p.Ile552Val) rs1603334819
NM_032043.3(BRIP1):c.1659A>C (p.Gln553His) rs876660693
NM_032043.3(BRIP1):c.1659A>G (p.Gln553=) rs876660693
NM_032043.3(BRIP1):c.165C>T (p.Ala55=) rs1603367680
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter) rs777217004
NM_032043.3(BRIP1):c.1661A>T (p.Gln554Leu)
NM_032043.3(BRIP1):c.1661del (p.Gln554fs) rs749762964
NM_032043.3(BRIP1):c.1662G>A (p.Gln554=)
NM_032043.3(BRIP1):c.1662G>C (p.Gln554His) rs1060501749
NM_032043.3(BRIP1):c.1663A>G (p.Thr555Ala) rs2077611229
NM_032043.3(BRIP1):c.1666T>C (p.Tyr556His) rs752797989
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs) rs2077611091
NM_032043.3(BRIP1):c.1668C>T (p.Tyr556=) rs1416513467
NM_032043.3(BRIP1):c.1669T>C (p.Ser557Pro) rs2145096206
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter) rs2145095898
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg) rs876658266
NM_032043.3(BRIP1):c.1677A>C (p.Thr559=)
NM_032043.3(BRIP1):c.1678A>C (p.Asn560His)
NM_032043.3(BRIP1):c.1679A>T (p.Asn560Ile) rs1555602592
NM_032043.3(BRIP1):c.1680T>C (p.Asn560=) rs2145095721
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro) rs1603334713
NM_032043.3(BRIP1):c.1683G>A (p.Gln561=)
NM_032043.3(BRIP1):c.1683G>C (p.Gln561His) rs1209325148
NM_032043.3(BRIP1):c.1683G>T (p.Gln561His)
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs) rs2077610620
NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr) rs2077610488
NM_032043.3(BRIP1):c.1686T>A (p.Ile562=)
NM_032043.3(BRIP1):c.1686T>C (p.Ile562=) rs1374464175
NM_032043.3(BRIP1):c.1687G>A (p.Asp563Asn) rs2145095363
NM_032043.3(BRIP1):c.1687_1689del (p.Asp563del) rs780590493
NM_032043.3(BRIP1):c.1688A>T (p.Asp563Val) rs577768294
NM_032043.3(BRIP1):c.1689T>C (p.Asp563=) rs1603334654
NM_032043.3(BRIP1):c.168A>G (p.Leu56=) rs2145850652
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs) rs1603367673
NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr) rs755635967
NM_032043.3(BRIP1):c.1692T>C (p.Ile564=) rs786202979
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter) rs1603334619
NM_032043.3(BRIP1):c.1694C>T (p.Ser565Leu) rs1603334619
NM_032043.3(BRIP1):c.1697A>C (p.Asp566Ala) rs1603334596
NM_032043.3(BRIP1):c.1697A>T (p.Asp566Val) rs1603334596
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer) rs878855140
NM_032043.3(BRIP1):c.1697del (p.Asp566fs) rs2077609777
NM_032043.3(BRIP1):c.1698C>G (p.Asp566Glu)
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter) rs2145094630
NM_032043.3(BRIP1):c.1702A>T (p.Asn568Tyr) rs2077609583
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.1702_1704del (p.Asn568del) rs1555602554
NM_032043.3(BRIP1):c.1705G>C (p.Gly569Arg) rs1259933364
NM_032043.3(BRIP1):c.1705G>T (p.Gly569Trp) rs1259933364
NM_032043.3(BRIP1):c.1706G>A (p.Gly569Glu)
NM_032043.3(BRIP1):c.1706G>C (p.Gly569Ala) rs373228183
NM_032043.3(BRIP1):c.1706G>T (p.Gly569Val) rs373228183
NM_032043.3(BRIP1):c.1707G>A (p.Gly569=) rs878855141
NM_032043.3(BRIP1):c.1707del (p.Leu570fs) rs2077609211
NM_032043.3(BRIP1):c.1708TTG[1] (p.Leu571del) rs754566378
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter) rs2077609103
NM_032043.3(BRIP1):c.1709T>C (p.Leu570Ser) rs2077609103
NM_032043.3(BRIP1):c.1710G>C (p.Leu570Phe) rs370087045
NM_032043.3(BRIP1):c.1713G>A (p.Leu571=)
NM_032043.3(BRIP1):c.1713G>C (p.Leu571Phe)
NM_032043.3(BRIP1):c.1714G>A (p.Val572Ile) rs1567813643
NM_032043.3(BRIP1):c.1714G>C (p.Val572Leu) rs1567813643
NM_032043.3(BRIP1):c.1715T>G (p.Val572Gly) rs1603334516
NM_032043.3(BRIP1):c.1720C>T (p.Pro574Ser)
NM_032043.3(BRIP1):c.1721C>G (p.Pro574Arg)
NM_032043.3(BRIP1):c.1725A>G (p.Lys575=) rs1555602537
NM_032043.3(BRIP1):c.1727A>G (p.Asn576Ser) rs587778132
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
NM_032043.3(BRIP1):c.1728T>C (p.Asn576=) rs1555602531
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
NM_032043.3(BRIP1):c.1730A>G (p.Lys577Arg) rs1411869768
NM_032043.3(BRIP1):c.1731_1733del (p.Lys578del) rs1355330975
NM_032043.3(BRIP1):c.1734A>G (p.Lys578=) rs786202592
NM_032043.3(BRIP1):c.1735C>A (p.Arg579Ser) rs28997571
NM_032043.3(BRIP1):c.1737T>G (p.Arg579=)
NM_032043.3(BRIP1):c.1738T>A (p.Ser580Thr)
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter) rs1356014648
NM_032043.3(BRIP1):c.1739C>T (p.Ser580Leu) rs1356014648
NM_032043.3(BRIP1):c.173G>C (p.Cys58Ser) rs749920386
NM_032043.3(BRIP1):c.1740A>G (p.Ser580=) rs2145092732
NM_032043.3(BRIP1):c.1744C>A (p.Gln582Lys)
NM_032043.3(BRIP1):c.1751C>A (p.Thr584Asn) rs2145092153
NM_032043.3(BRIP1):c.1751C>G (p.Thr584Ser) rs2145092153
NM_032043.3(BRIP1):c.1753G>A (p.Ala585Thr)
NM_032043.3(BRIP1):c.1753G>C (p.Ala585Pro) rs1603334364
NM_032043.3(BRIP1):c.1756G>C (p.Val586Leu)
NM_032043.3(BRIP1):c.1758T>C (p.Val586=) rs863224433
NM_032043.3(BRIP1):c.1759C>A (p.His587Asn) rs876660519
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.3(BRIP1):c.1761T>C (p.His587=) rs1603334313
NM_032043.3(BRIP1):c.1762G>A (p.Val588Met) rs876660355
NM_032043.3(BRIP1):c.1766T>G (p.Leu589Arg)
NM_032043.3(BRIP1):c.1767A>G (p.Leu589=) rs1057523711
NM_032043.3(BRIP1):c.176C>G (p.Ser59Cys)
NM_032043.3(BRIP1):c.176C>T (p.Ser59Phe) rs2078949491
NM_032043.3(BRIP1):c.1770C>A (p.Asn590Lys)
NM_032043.3(BRIP1):c.1770C>G (p.Asn590Lys) rs2077606990
NM_032043.3(BRIP1):c.1770C>T (p.Asn590=)
NM_032043.3(BRIP1):c.1770del (p.Trp592fs) rs2145091141
NM_032043.3(BRIP1):c.1773T>C (p.Phe591=) rs1057523507
NM_032043.3(BRIP1):c.1774T>C (p.Trp592Arg)
NM_032043.3(BRIP1):c.1774T>G (p.Trp592Gly) rs587780231
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter) rs753023295
NM_032043.3(BRIP1):c.1776G>T (p.Trp592Cys) rs753023295
NM_032043.3(BRIP1):c.1779C>T (p.Cys593=)
NM_032043.3(BRIP1):c.1780T>G (p.Leu594Val) rs876658256
NM_032043.3(BRIP1):c.1781T>C (p.Leu594Ser) rs587781559
NM_032043.3(BRIP1):c.1782A>T (p.Leu594Phe) rs1567813260
NM_032043.3(BRIP1):c.1785T>C (p.Asn595=) rs1603334224
NM_032043.3(BRIP1):c.1787C>T (p.Pro596Leu) rs864622155
NM_032043.3(BRIP1):c.1788A>G (p.Pro596=) rs1555602434
NM_032043.3(BRIP1):c.1789G>T (p.Ala597Ser) rs2077606219
NM_032043.3(BRIP1):c.178G>A (p.Ala60Thr) rs1555618394
NM_032043.3(BRIP1):c.178G>C (p.Ala60Pro) rs1555618394
NM_032043.3(BRIP1):c.1790C>G (p.Ala597Gly) rs751667661
NM_032043.3(BRIP1):c.1791T>C (p.Ala597=)
NM_032043.3(BRIP1):c.1791T>G (p.Ala597=) rs1060504323
NM_032043.3(BRIP1):c.1791del (p.Val598fs) rs1567813223
NM_032043.3(BRIP1):c.1794+10T>A rs763543426
NM_032043.3(BRIP1):c.1794+10T>C rs763543426
NM_032043.3(BRIP1):c.1794+11C>T
NM_032043.3(BRIP1):c.1794+12A>G rs773521085
NM_032043.3(BRIP1):c.1794+13T>C
NM_032043.3(BRIP1):c.1794+13T>G rs2145089397
NM_032043.3(BRIP1):c.1794+14G>C
NM_032043.3(BRIP1):c.1794+15T>C
NM_032043.3(BRIP1):c.1794+19T>G
NM_032043.3(BRIP1):c.1794+2T>G
NM_032043.3(BRIP1):c.1794+2dup rs2077605901
NM_032043.3(BRIP1):c.1794+6C>T rs1429375125
NM_032043.3(BRIP1):c.1794+7T>G rs2145089607
NM_032043.3(BRIP1):c.1794+8C>T
NM_032043.3(BRIP1):c.1795-12G>A rs762289143
NM_032043.3(BRIP1):c.1795-12_1795-10del rs1475317357
NM_032043.3(BRIP1):c.1795-15G>A
NM_032043.3(BRIP1):c.1795-16T>G
NM_032043.3(BRIP1):c.1795-17A>G rs1567812766
NM_032043.3(BRIP1):c.1795-17A>T
NM_032043.3(BRIP1):c.1795-18_1795-6del rs1603333451
NM_032043.3(BRIP1):c.1795-19T>C
NM_032043.3(BRIP1):c.1795-1G>A rs1368457771
NM_032043.3(BRIP1):c.1795-1G>C
NM_032043.3(BRIP1):c.1795-20C>A rs750994596
NM_032043.3(BRIP1):c.1795-2del
NM_032043.3(BRIP1):c.1795-7C>A
NM_032043.3(BRIP1):c.1795-8T>A rs1012425653
NM_032043.3(BRIP1):c.1795G>A (p.Ala599Thr)
NM_032043.3(BRIP1):c.1795G>T (p.Ala599Ser) rs2145081985
NM_032043.3(BRIP1):c.1796C>T (p.Ala599Val)
NM_032043.3(BRIP1):c.1797C>T (p.Ala599=) rs771672834
NM_032043.3(BRIP1):c.1799T>A (p.Phe600Tyr)
NM_032043.3(BRIP1):c.17C>T (p.Ser6Phe) rs1603368484
NM_032043.3(BRIP1):c.1801del (p.Ser601fs) rs2145081748
NM_032043.3(BRIP1):c.1805A>G (p.Asp602Gly) rs1555602221
NM_032043.3(BRIP1):c.1806T>C (p.Asp602=) rs878855142
NM_032043.3(BRIP1):c.1808T>A (p.Ile603Asn) rs1555602215
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr) rs1555602215
NM_032043.3(BRIP1):c.1809T>C (p.Ile603=) rs370393808
NM_032043.3(BRIP1):c.180T>A (p.Ala60=) rs2078949295
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs) rs2145850255
NM_032043.3(BRIP1):c.1814G>A (p.Gly605Asp) rs2145081033
NM_032043.3(BRIP1):c.1816A>C (p.Lys606Gln) rs1386348664
NM_032043.3(BRIP1):c.1819G>T (p.Val607Phe)
NM_032043.3(BRIP1):c.181T>G (p.Leu61Val)
NM_032043.3(BRIP1):c.1824G>A (p.Gln608=)
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His) rs1567812636
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala) rs189758577
NM_032043.3(BRIP1):c.1826C>G (p.Thr609Ser)
NM_032043.3(BRIP1):c.1826C>T (p.Thr609Ile)
NM_032043.3(BRIP1):c.1827C>G (p.Thr609=) rs2145080349
NM_032043.3(BRIP1):c.1828A>G (p.Ile610Val)
NM_032043.3(BRIP1):c.1829T>C (p.Ile610Thr)
NM_032043.3(BRIP1):c.182T>C (p.Leu61Ser) rs1567876917
NM_032043.3(BRIP1):c.1831del (p.Val611fs) rs1567812616
NM_032043.3(BRIP1):c.1835T>C (p.Leu612Ser) rs2077597358
NM_032043.3(BRIP1):c.1836G>A (p.Leu612=) rs1464898721
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe) rs1464898721
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile) rs864622345
NM_032043.3(BRIP1):c.1839A>G (p.Thr613=) rs1603333264
NM_032043.3(BRIP1):c.183A>G (p.Leu61=) rs1555618384
NM_032043.3(BRIP1):c.1840T>A (p.Ser614Thr) rs2145079541
NM_032043.3(BRIP1):c.1841C>T (p.Ser614Phe)
NM_032043.3(BRIP1):c.1843G>A (p.Gly615Ser) rs1555602203
NM_032043.3(BRIP1):c.1844G>A (p.Gly615Asp)
NM_032043.3(BRIP1):c.1844G>T (p.Gly615Val) rs2077597056
NM_032043.3(BRIP1):c.1846A>G (p.Thr616Ala) rs1397233707
NM_032043.3(BRIP1):c.1848A>G (p.Thr616=) rs1603333238
NM_032043.3(BRIP1):c.184G>A (p.Ala62Thr) rs786202861
NM_032043.3(BRIP1):c.184G>T (p.Ala62Ser) rs786202861
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser) rs1064794095
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
NM_032043.3(BRIP1):c.1851A>G (p.Leu617=)
NM_032043.3(BRIP1):c.1852T>A (p.Ser618Thr) rs876660191
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro) rs876660191
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1855C>G (p.Pro619Ala) rs2077596661
NM_032043.3(BRIP1):c.1855C>T (p.Pro619Ser) rs2077596661
NM_032043.3(BRIP1):c.1857A>C (p.Pro619=) rs1603333212
NM_032043.3(BRIP1):c.1858A>G (p.Met620Val) rs876658346
NM_032043.3(BRIP1):c.1859T>A (p.Met620Lys) rs1555602185
NM_032043.3(BRIP1):c.1859T>C (p.Met620Thr) rs1555602185
NM_032043.3(BRIP1):c.185C>T (p.Ala62Val) rs2078949086
NM_032043.3(BRIP1):c.1861A>G (p.Lys621Glu)
NM_032043.3(BRIP1):c.1864T>C (p.Ser622Pro) rs2077596367
NM_032043.3(BRIP1):c.1865C>T (p.Ser622Phe) rs2077596312
NM_032043.3(BRIP1):c.1867T>A (p.Phe623Ile) rs864622438
NM_032043.3(BRIP1):c.1867T>C (p.Phe623Leu) rs864622438
NM_032043.3(BRIP1):c.1868T>G (p.Phe623Cys) rs2145077916
NM_032043.3(BRIP1):c.186A>G (p.Ala62=) rs764252214
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1874C>T (p.Ser625Leu)
NM_032043.3(BRIP1):c.1877A>T (p.Glu626Val) rs2145077565
NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1878A>G (p.Glu626=)
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp) rs1567812484
NM_032043.3(BRIP1):c.1879C>T (p.Leu627Phe) rs2077595930
NM_032043.3(BRIP1):c.187T>A (p.Trp63Arg) rs1603367652
NM_032043.3(BRIP1):c.1880T>A (p.Leu627His) rs1567812479
NM_032043.3(BRIP1):c.1880T>G (p.Leu627Arg) rs1567812479
NM_032043.3(BRIP1):c.1882G>A (p.Gly628Ser)
NM_032043.3(BRIP1):c.1883G>A (p.Gly628Asp) rs1064794907
NM_032043.3(BRIP1):c.1883G>T (p.Gly628Val) rs1064794907
NM_032043.3(BRIP1):c.1888A>G (p.Thr630Ala) rs2077595608
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs) rs763818712
NM_032043.3(BRIP1):c.1889C>A (p.Thr630Lys) rs780407946
NM_032043.3(BRIP1):c.1889del (p.Thr630fs) rs1064793626
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter) rs1603367649
NM_032043.3(BRIP1):c.1894A>G (p.Thr632Ala) rs1555602149
NM_032043.3(BRIP1):c.1894A>T (p.Thr632Ser) rs1555602149
NM_032043.3(BRIP1):c.1895C>G (p.Thr632Ser)
NM_032043.3(BRIP1):c.1896T>C (p.Thr632=) rs2077595308
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu) rs765314472
NM_032043.3(BRIP1):c.1898T>A (p.Ile633Asn) rs587780232
NM_032043.3(BRIP1):c.1898T>C (p.Ile633Thr) rs587780232
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter) rs1603367647
NM_032043.3(BRIP1):c.1901A>G (p.Gln634Arg) rs2145076105
NM_032043.3(BRIP1):c.1902G>C (p.Gln634His) rs1060501748
NM_032043.3(BRIP1):c.1903C>T (p.Leu635=) rs754280136
NM_032043.3(BRIP1):c.1904T>C (p.Leu635Pro) rs2145075890
NM_032043.3(BRIP1):c.1906G>A (p.Glu636Lys) rs1060501769
NM_032043.3(BRIP1):c.1908G>A (p.Glu636=) rs1555602134
NM_032043.3(BRIP1):c.1909G>C (p.Ala637Pro) rs541203428
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter) rs2145849937
NM_032043.3(BRIP1):c.1911T>C (p.Ala637=) rs1603333046
NM_032043.3(BRIP1):c.1912A>G (p.Asn638Asp) rs2077594670
NM_032043.3(BRIP1):c.1914T>C (p.Asn638=) rs764456240
NM_032043.3(BRIP1):c.1915C>A (p.His639Asn) rs2145075261
NM_032043.3(BRIP1):c.1916A>G (p.His639Arg) rs1603333030
NM_032043.3(BRIP1):c.1917T>C (p.His639=) rs763534423
NM_032043.3(BRIP1):c.1918A>G (p.Ile640Val) rs2145075101
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs) rs1555602127
NM_032043.3(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
NM_032043.3(BRIP1):c.1920C>A (p.Ile640=) rs2145074950
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe) rs1603333007
NM_032043.3(BRIP1):c.1926A>G (p.Lys642=) rs2145074724
NM_032043.3(BRIP1):c.1927A>C (p.Asn643His) rs2145074666
NM_032043.3(BRIP1):c.192A>G (p.Gln64=) rs2145849875
NM_032043.3(BRIP1):c.1930T>A (p.Ser644Thr) rs2077594282
NM_032043.3(BRIP1):c.1933C>G (p.Gln645Glu) rs2145074343
NM_032043.3(BRIP1):c.1935+11G>T rs79121306
NM_032043.3(BRIP1):c.1935+11_1935+12del
NM_032043.3(BRIP1):c.1935+11del
NM_032043.3(BRIP1):c.1935+13T>G rs1555602100
NM_032043.3(BRIP1):c.1935+14T>C
NM_032043.3(BRIP1):c.1935+16T>C rs2145073369
NM_032043.3(BRIP1):c.1935+17T>C
NM_032043.3(BRIP1):c.1935+17T>G rs1268001607
NM_032043.3(BRIP1):c.1935+1G>A
NM_032043.3(BRIP1):c.1935+1del rs2077594062
NM_032043.3(BRIP1):c.1935+4_1935+7del rs766199221
NM_032043.3(BRIP1):c.1935+5G>A rs1209289625
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.1935+6T>C rs1555602118
NM_032043.3(BRIP1):c.1935+7T>A
NM_032043.3(BRIP1):c.1935+8G>C
NM_032043.3(BRIP1):c.1935G>A (p.Gln645=) rs1254051324
NM_032043.3(BRIP1):c.1936-12T>C
NM_032043.3(BRIP1):c.1936-12T>G
NM_032043.3(BRIP1):c.1936-12_1936-10del rs2145034941
NM_032043.3(BRIP1):c.1936-13A>T
NM_032043.3(BRIP1):c.1936-18G>A rs2145035153
NM_032043.3(BRIP1):c.1936-19T>C
NM_032043.3(BRIP1):c.1936-1G>A rs1555601204
NM_032043.3(BRIP1):c.1936-1G>C rs1555601204
NM_032043.3(BRIP1):c.1936-28_1936-20dup rs2145035178
NM_032043.3(BRIP1):c.1936-2A>C rs878855143
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.1936-4C>G rs587780552
NM_032043.3(BRIP1):c.1936-5T>A rs769767296
NM_032043.3(BRIP1):c.1936-5_1936-4delinsGT rs587781481
NM_032043.3(BRIP1):c.1936-7A>G rs1427111542
NM_032043.3(BRIP1):c.1936del rs1567809140
NM_032043.3(BRIP1):c.1939T>G (p.Trp647Gly)
NM_032043.3(BRIP1):c.193C>A (p.Gln65Lys)
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1943T>G (p.Val648Gly) rs2077537998
NM_032043.3(BRIP1):c.1946G>A (p.Gly649Asp) rs746066323
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala) rs746066323
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs) rs2077537479
NM_032043.3(BRIP1):c.1949C>T (p.Thr650Ile) rs2077537888
NM_032043.3(BRIP1):c.194A>C (p.Gln65Pro) rs1555618377
NM_032043.3(BRIP1):c.194_199del (p.Gln65_Ser66del) rs2078948660
NM_032043.3(BRIP1):c.1950C>T (p.Thr650=) rs1603328999
NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val) rs778867622
NM_032043.3(BRIP1):c.1953T>C (p.Ile651=) rs754400631
NM_032043.3(BRIP1):c.1956G>A (p.Gly652=) rs778250103
NM_032043.3(BRIP1):c.1956G>T (p.Gly652=) rs778250103
NM_032043.3(BRIP1):c.1958C>T (p.Ser653Leu) rs756511744
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs) rs2145033356
NM_032043.3(BRIP1):c.195A>C (p.Gln65His) rs141436143
NM_032043.3(BRIP1):c.1960G>A (p.Gly654Ser) rs1567809053
NM_032043.3(BRIP1):c.1962C>G (p.Gly654=) rs786201877
NM_032043.3(BRIP1):c.1962C>T (p.Gly654=) rs786201877
NM_032043.3(BRIP1):c.1963C>T (p.Pro655Ser) rs753036322
NM_032043.3(BRIP1):c.1964C>G (p.Pro655Arg) rs767872111
NM_032043.3(BRIP1):c.1964C>T (p.Pro655Leu)
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
NM_032043.3(BRIP1):c.1967A>G (p.Lys656Arg) rs1322017079
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs) rs2077537050
NM_032043.3(BRIP1):c.1968G>A (p.Lys656=)
NM_032043.3(BRIP1):c.1968G>T (p.Lys656Asn) rs1064793415
NM_032043.3(BRIP1):c.1969G>A (p.Gly657Ser)
NM_032043.3(BRIP1):c.1969G>T (p.Gly657Cys)
NM_032043.3(BRIP1):c.1970G>A (p.Gly657Asp) rs1603328878
NM_032043.3(BRIP1):c.1970G>T (p.Gly657Val) rs1603328878
NM_032043.3(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.3(BRIP1):c.1971T>G (p.Gly657=) rs1555601157
NM_032043.3(BRIP1):c.1972C>A (p.Arg658=) rs786203170
NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly) rs786203170
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln) rs759142191
NM_032043.3(BRIP1):c.1974G>T (p.Arg658=) rs876658617
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs) rs2145032405
NM_032043.3(BRIP1):c.1976A>G (p.Asn659Ser) rs1213142447
NM_032043.3(BRIP1):c.1978C>T (p.Leu660Phe) rs1060501746
NM_032043.3(BRIP1):c.197C>T (p.Ser66Phe) rs2078948703
NM_032043.3(BRIP1):c.1982G>A (p.Cys661Tyr) rs1160736353
NM_032043.3(BRIP1):c.1982G>T (p.Cys661Phe) rs1160736353
NM_032043.3(BRIP1):c.1983T>C (p.Cys661=) rs1603328829
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala) rs1567808933
NM_032043.3(BRIP1):c.1987A>T (p.Thr663Ser)
NM_032043.3(BRIP1):c.1989C>G (p.Thr663=) rs376628979
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter) rs1603328780
NM_032043.3(BRIP1):c.1994A>T (p.Gln665Leu) rs2145031487
NM_032043.3(BRIP1):c.1996A>C (p.Asn666His) rs765816425
NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp) rs765816425
NM_032043.3(BRIP1):c.1998T>C (p.Asn666=) rs876659106
NM_032043.3(BRIP1):c.199C>G (p.Leu67Val)
NM_032043.3(BRIP1):c.199C>T (p.Leu67Phe)
NM_032043.3(BRIP1):c.19G>A (p.Glu7Lys) rs1246321339
NM_032043.3(BRIP1):c.1A>T (p.Met1Leu) rs764585550
NM_032043.3(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.3(BRIP1):c.2001T>G (p.Thr667=)
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter) rs2145031089
NM_032043.3(BRIP1):c.2009T>C (p.Phe670Ser) rs1555601107
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs) rs1555618374
NM_032043.3(BRIP1):c.2010T>C (p.Phe670=) rs762535496
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.3(BRIP1):c.2012A>G (p.Glu671Gly) rs587778135
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs) rs2145030551
NM_032043.3(BRIP1):c.2018A>G (p.Gln673Arg) rs786203619
NM_032043.3(BRIP1):c.2019A>G (p.Gln673=) rs1008150951
NM_032043.3(BRIP1):c.201T>C (p.Leu67=) rs763819127
NM_032043.3(BRIP1):c.2020G>A (p.Asp674Asn) rs1567808842
NM_032043.3(BRIP1):c.2021A>G (p.Asp674Gly) rs1555601087
NM_032043.3(BRIP1):c.2022T>G (p.Asp674Glu)
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs) rs2145029870
NM_032043.3(BRIP1):c.2024A>C (p.Glu675Ala) rs1555601081
NM_032043.3(BRIP1):c.2026G>A (p.Val676Met) rs2077535030
NM_032043.3(BRIP1):c.2028G>A (p.Val676=) rs786202395
NM_032043.3(BRIP1):c.2028G>C (p.Val676=) rs786202395
NM_032043.3(BRIP1):c.2029G>A (p.Gly677Arg) rs1555601069
NM_032043.3(BRIP1):c.2029_2049del (p.Gly677_Val683del) rs2077534052
NM_032043.3(BRIP1):c.202A>G (p.Ser68Gly)
NM_032043.3(BRIP1):c.2030G>A (p.Gly677Glu) rs1567808797
NM_032043.3(BRIP1):c.2030del (p.Gly677fs) rs1555601064
NM_032043.3(BRIP1):c.2032G>A (p.Ala678Thr) rs2077534711
NM_032043.3(BRIP1):c.2033C>T (p.Ala678Val) rs1211313166
NM_032043.3(BRIP1):c.2035C>T (p.Leu679Phe) rs1555601056
NM_032043.3(BRIP1):c.2038_2039del (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2039T>C (p.Leu680Ser) rs2077534379
NM_032043.3(BRIP1):c.2040G>A (p.Leu680=) rs2145028811
NM_032043.3(BRIP1):c.2044T>C (p.Ser682Pro) rs2077534218
NM_032043.3(BRIP1):c.2046T>C (p.Ser682=) rs2145028480
NM_032043.3(BRIP1):c.2049G>A (p.Val683=) rs1228288888
NM_032043.3(BRIP1):c.204T>C (p.Ser68=) rs2078948550
NM_032043.3(BRIP1):c.205+10del rs2078948200
NM_032043.3(BRIP1):c.205+13T>G
NM_032043.3(BRIP1):c.205+17T>G
NM_032043.3(BRIP1):c.205+18A>G rs1555618353
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.205+20C>A
NM_032043.3(BRIP1):c.205+2T>C rs1060501763
NM_032043.3(BRIP1):c.205+2T>G rs1060501763
NM_032043.3(BRIP1):c.205+4A>G rs1060501753
NM_032043.3(BRIP1):c.205+4A>T
NM_032043.3(BRIP1):c.205+5G>A rs2078948368
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.205+6T>A rs1555618360
NM_032043.3(BRIP1):c.205+6T>C rs1555618360
NM_032043.3(BRIP1):c.205+6_205+7insTATCTTGA rs2078948236
NM_032043.3(BRIP1):c.205+8G>A rs2145849179
NM_032043.3(BRIP1):c.2050T>G (p.Cys684Gly)
NM_032043.3(BRIP1):c.2051G>T (p.Cys684Phe) rs2145028133
NM_032043.3(BRIP1):c.2053del (p.Gln685fs) rs2145028011
NM_032043.3(BRIP1):c.2054A>T (p.Gln685Leu) rs2077533936
NM_032043.3(BRIP1):c.2055G>C (p.Gln685His) rs1603328545
NM_032043.3(BRIP1):c.2055_2066del (p.Thr686_Gln689del) rs2145027145
NM_032043.3(BRIP1):c.2058T>A (p.Thr686=)
NM_032043.3(BRIP1):c.2058T>C (p.Thr686=) rs1603328526
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
NM_032043.3(BRIP1):c.2059G>A (p.Val687Met) rs876659296
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer) rs2145027657
NM_032043.3(BRIP1):c.205G>T (p.Gly69Trp) rs372581879
NM_032043.3(BRIP1):c.206-10T>A
NM_032043.3(BRIP1):c.206-14T>A rs914741353
NM_032043.3(BRIP1):c.206-14T>C rs914741353
NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC
NM_032043.3(BRIP1):c.206-16G>A
NM_032043.3(BRIP1):c.206-17T>C rs1567875100
NM_032043.3(BRIP1):c.206-18A>T
NM_032043.3(BRIP1):c.206-1G>T rs1555617934
NM_032043.3(BRIP1):c.206-6T>A rs1555617938
NM_032043.3(BRIP1):c.206-8A>C
NM_032043.3(BRIP1):c.206-8A>G rs2145831898
NM_032043.3(BRIP1):c.206-9C>A rs1193647766
NM_032043.3(BRIP1):c.206-9C>T
NM_032043.3(BRIP1):c.2060T>C (p.Val687Ala) rs1555601030
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
NM_032043.3(BRIP1):c.2063G>A (p.Ser688Asn)
NM_032043.3(BRIP1):c.2066A>G (p.Gln689Arg) rs2145027105
NM_032043.3(BRIP1):c.2068G>A (p.Gly690Arg)
NM_032043.3(BRIP1):c.2069G>C (p.Gly690Ala)
NM_032043.3(BRIP1):c.2071A>G (p.Ile691Val) rs587782356
NM_032043.3(BRIP1):c.2073T>G (p.Ile691Met)
NM_032043.3(BRIP1):c.2079T>C (p.Cys693=) rs2145026472
NM_032043.3(BRIP1):c.207G>A (p.Gly69=) rs2078911284
NM_032043.3(BRIP1):c.2085G>A (p.Leu695=) rs1555601008
NM_032043.3(BRIP1):c.2085G>T (p.Leu695Phe) rs1555601008
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs) rs1060501772
NM_032043.3(BRIP1):c.2088A>G (p.Pro696=)
NM_032043.3(BRIP1):c.2089T>C (p.Ser697Pro) rs1603328426
NM_032043.3(BRIP1):c.208A>C (p.Lys70Gln)
NM_032043.3(BRIP1):c.2091T>C (p.Ser697=) rs2077532892
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter) rs1603328406
NM_032043.3(BRIP1):c.2094C>T (p.Tyr698=) rs1603328406
NM_032043.3(BRIP1):c.2097+10T>C rs2145024802
NM_032043.3(BRIP1):c.2097+13T>A
NM_032043.3(BRIP1):c.2097+14T>C rs2145024654
NM_032043.3(BRIP1):c.2097+14T>G
NM_032043.3(BRIP1):c.2097+14del
NM_032043.3(BRIP1):c.2097+15A>T
NM_032043.3(BRIP1):c.2097+15_2097+17del
NM_032043.3(BRIP1):c.2097+17T>C
NM_032043.3(BRIP1):c.2097+17T>G rs779183944
NM_032043.3(BRIP1):c.2097+18G>T rs2077532129
NM_032043.3(BRIP1):c.2097+1G>C rs786202941
NM_032043.3(BRIP1):c.2097+1G>T rs786202941
NM_032043.3(BRIP1):c.2097+2T>A rs2077532634
NM_032043.3(BRIP1):c.2097+5G>T
NM_032043.3(BRIP1):c.2097+6G>A rs1603328382
NM_032043.3(BRIP1):c.2097+7G>C rs4988352
NM_032043.3(BRIP1):c.2097+7del
NM_032043.3(BRIP1):c.2097+8A>G rs730881642
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=) rs1060501754
NM_032043.3(BRIP1):c.2098-10C>A rs864622767
NM_032043.3(BRIP1):c.2098-10C>T rs864622767
NM_032043.3(BRIP1):c.2098-11C>A
NM_032043.3(BRIP1):c.2098-11C>T
NM_032043.3(BRIP1):c.2098-13T>G rs2077035315
NM_032043.3(BRIP1):c.2098-14T>C
NM_032043.3(BRIP1):c.2098-16T>C rs2144702212
NM_032043.3(BRIP1):c.2098-16del rs1064793669
NM_032043.3(BRIP1):c.2098-17T>A rs1555591574
NM_032043.3(BRIP1):c.2098-17T>C rs1555591574
NM_032043.3(BRIP1):c.2098-22dup rs1064793669
NM_032043.3(BRIP1):c.2098-3del rs1603304671
NM_032043.3(BRIP1):c.2098-6C>T rs2144701935
NM_032043.3(BRIP1):c.2098-8C>T rs917048033
NM_032043.3(BRIP1):c.2098T>C (p.Leu700=) rs2077034962
NM_032043.3(BRIP1):c.209A>C (p.Lys70Thr) rs957072709
NM_032043.3(BRIP1):c.209A>G (p.Lys70Arg) rs957072709
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser) rs876658270
NM_032043.3(BRIP1):c.2103A>G (p.Leu701=)
NM_032043.3(BRIP1):c.2103del (p.Glu702fs) rs2144701568
NM_032043.3(BRIP1):c.2105A>G (p.Glu702Gly)
NM_032043.3(BRIP1):c.2107A>G (p.Lys703Glu)
NM_032043.3(BRIP1):c.2108A>G (p.Lys703Arg) rs756412722
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.3(BRIP1):c.2109A>G (p.Lys703=) rs2077034490
NM_032043.3(BRIP1):c.2109del (p.Lys703fs) rs2144701307
NM_032043.3(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.3(BRIP1):c.2110T>C (p.Leu704=)
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2119C>A (p.Arg707Ser) rs764803896
NM_032043.3(BRIP1):c.2119C>G (p.Arg707Gly) rs764803896
NM_032043.3(BRIP1):c.211C>A (p.Pro71Thr)
NM_032043.3(BRIP1):c.211C>T (p.Pro71Ser) rs876659680
NM_032043.3(BRIP1):c.2120G>A (p.Arg707His) rs200313471
NM_032043.3(BRIP1):c.2120G>T (p.Arg707Leu) rs200313471
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
NM_032043.3(BRIP1):c.2121T>A (p.Arg707=)
NM_032043.3(BRIP1):c.2121T>G (p.Arg707=) rs1481107855
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
NM_032043.3(BRIP1):c.2125C>G (p.Leu709Val) rs2077033994
NM_032043.3(BRIP1):c.2126T>C (p.Leu709Pro) rs1567781600
NM_032043.3(BRIP1):c.2127C>G (p.Leu709=) rs1060504325
NM_032043.3(BRIP1):c.2127C>T (p.Leu709=) rs1060504325
NM_032043.3(BRIP1):c.2128T>G (p.Ser710Ala) rs1555591505
NM_032043.3(BRIP1):c.2130T>C (p.Ser710=) rs1555591497
NM_032043.3(BRIP1):c.2130T>G (p.Ser710=)
NM_032043.3(BRIP1):c.2131A>C (p.Thr711Pro) rs760515227
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala) rs760515227
NM_032043.3(BRIP1):c.2133del (p.Gly712fs) rs1567781543
NM_032043.3(BRIP1):c.2135G>A (p.Gly712Asp) rs1060501755
NM_032043.3(BRIP1):c.2135G>C (p.Gly712Ala) rs1060501755
NM_032043.3(BRIP1):c.2135G>T (p.Gly712Val) rs1060501755
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter) rs878855145
NM_032043.3(BRIP1):c.213A>G (p.Pro71=) rs1471650548
NM_032043.3(BRIP1):c.2140T>C (p.Trp714Arg) rs1603304614
NM_032043.3(BRIP1):c.2143C>G (p.His715Asp) rs2077033211
NM_032043.3(BRIP1):c.2144A>G (p.His715Arg) rs1253181575
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp) rs1060501745
NM_032043.3(BRIP1):c.2149C>T (p.Leu717=) rs1555591473
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr) rs1357919929
NM_032043.3(BRIP1):c.2150T>C (p.Leu717Pro) rs2077032975
NM_032043.3(BRIP1):c.2151G>A (p.Leu717=) rs2077032938
NM_032043.3(BRIP1):c.2154G>A (p.Glu718=) rs1057523978
NM_032043.3(BRIP1):c.2154G>C (p.Glu718Asp)
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)
NM_032043.3(BRIP1):c.2157G>T (p.Leu719Phe) rs2144699040
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met) rs1555591459
NM_032043.3(BRIP1):c.2158G>T (p.Val720Leu) rs1555591459
NM_032043.3(BRIP1):c.2158_2160del (p.Val720del) rs878855146
NM_032043.3(BRIP1):c.215C>A (p.Ala72Glu) rs2078910927
NM_032043.3(BRIP1):c.2160G>A (p.Val720=) rs1603304594
NM_032043.3(BRIP1):c.2163G>A (p.Lys721=)
NM_032043.3(BRIP1):c.2165C>T (p.Thr722Ile) rs1603304593
NM_032043.3(BRIP1):c.2166A>G (p.Thr722=) rs2144698611
NM_032043.3(BRIP1):c.2169C>T (p.Val723=) rs749460936
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
NM_032043.3(BRIP1):c.2170A>C (p.Ile724Leu) rs2077032430
NM_032043.3(BRIP1):c.2170A>G (p.Ile724Val)
NM_032043.3(BRIP1):c.2171T>C (p.Ile724Thr) rs1312043643
NM_032043.3(BRIP1):c.2172T>G (p.Ile724Met) rs777860588
NM_032043.3(BRIP1):c.2173G>A (p.Val725Ile) rs1236873736
NM_032043.3(BRIP1):c.2174T>A (p.Val725Glu) rs2144698131
NM_032043.3(BRIP1):c.2175A>G (p.Val725=)
NM_032043.3(BRIP1):c.2178A>C (p.Glu726Asp) rs1555591425
NM_032043.3(BRIP1):c.2180C>A (p.Pro727Gln) rs876659309
NM_032043.3(BRIP1):c.2180C>T (p.Pro727Leu) rs876659309
NM_032043.3(BRIP1):c.2182C>G (p.Gln728Glu) rs1296238058
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter) rs1296238058
NM_032043.3(BRIP1):c.2183A>T (p.Gln728Leu) rs2144697784
NM_032043.3(BRIP1):c.2184G>A (p.Gln728=)
NM_032043.3(BRIP1):c.2184G>C (p.Gln728His) rs2077031766
NM_032043.3(BRIP1):c.2185G>A (p.Gly729Arg) rs1555591407
NM_032043.3(BRIP1):c.2186G>A (p.Gly729Glu) rs1404094308
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
NM_032043.3(BRIP1):c.2191G>A (p.Glu731Lys) rs1603304544
NM_032043.3(BRIP1):c.2194A>G (p.Lys732Glu)
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2197del (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2198C>T (p.Thr733Ile) rs2077031435
NM_032043.3(BRIP1):c.219T>C (p.Asp73=) rs1603366434
NM_032043.3(BRIP1):c.2200A>C (p.Asn734His) rs2144697244
NM_032043.3(BRIP1):c.2201A>G (p.Asn734Ser) rs2144697198
NM_032043.3(BRIP1):c.2205T>G (p.Phe735Leu)
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter) rs1555591385
NM_032043.3(BRIP1):c.2206G>A (p.Asp736Asn) rs2144697004
NM_032043.3(BRIP1):c.2208T>G (p.Asp736Glu) rs2077031257
NM_032043.3(BRIP1):c.220G>C (p.Glu74Gln) rs2145831329
NM_032043.3(BRIP1):c.2211A>G (p.Glu737=) rs1603304536
NM_032043.3(BRIP1):c.2212T>C (p.Leu738=) rs1567781239
NM_032043.3(BRIP1):c.2214A>G (p.Leu738=)
NM_032043.3(BRIP1):c.2215C>T (p.Leu739=) rs1555591374
NM_032043.3(BRIP1):c.2216T>C (p.Leu739Pro) rs587780234
NM_032043.3(BRIP1):c.2216T>G (p.Leu739Arg)
NM_032043.3(BRIP1):c.2218C>G (p.Gln740Glu) rs1555591361
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter) rs1555591361
NM_032043.3(BRIP1):c.2218del (p.Gln740fs) rs1555591365
NM_032043.3(BRIP1):c.2221G>A (p.Val741Met) rs1308293137
NM_032043.3(BRIP1):c.2221G>C (p.Val741Leu) rs1308293137
NM_032043.3(BRIP1):c.2221dup (p.Val741fs) rs1567781169
NM_032043.3(BRIP1):c.2222T>C (p.Val741Ala) rs1555591357
NM_032043.3(BRIP1):c.2223G>T (p.Val741=) rs1057522996
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter) rs1310861578
NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser) rs1555591351
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter) rs2144696024
NM_032043.3(BRIP1):c.2227T>G (p.Tyr743Asp) rs2144695971
NM_032043.3(BRIP1):c.2228A>C (p.Tyr743Ser) rs750033391
NM_032043.3(BRIP1):c.2228A>G (p.Tyr743Cys)
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter) rs2077030288
NM_032043.3(BRIP1):c.222G>A (p.Glu74=) rs1603366432
NM_032043.3(BRIP1):c.222G>C (p.Glu74Asp)
NM_032043.3(BRIP1):c.2230G>C (p.Asp744His) rs2144695830
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu) rs374362388
NM_032043.3(BRIP1):c.2234C>T (p.Ala745Val) rs2144695654
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs) rs587782726
NM_032043.3(BRIP1):c.2238C>A (p.Ile746=) rs876660416
NM_032043.3(BRIP1):c.2238C>T (p.Ile746=) rs876660416
NM_032043.3(BRIP1):c.223G>T (p.Gly75Cys) rs1317680188
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.2247A>G (p.Lys749=) rs587782556
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
NM_032043.3(BRIP1):c.2248G>A (p.Gly750Arg)
NM_032043.3(BRIP1):c.2249G>A (p.Gly750Glu)
NM_032043.3(BRIP1):c.2249G>T (p.Gly750Val) rs764061653
NM_032043.3(BRIP1):c.2250A>C (p.Gly750=) rs1195197229
NM_032043.3(BRIP1):c.2251G>C (p.Glu751Gln) rs760438320
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs) rs1555591308
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs) rs1555591308
NM_032043.3(BRIP1):c.2254A>C (p.Lys752Gln) rs876659651
NM_032043.3(BRIP1):c.2255A>G (p.Lys752Arg) rs876660016
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2256A>G (p.Lys752=)
NM_032043.3(BRIP1):c.2257+11A>G rs1213506782
NM_032043.3(BRIP1):c.2257+11del rs2144694434
NM_032043.3(BRIP1):c.2257+12_2257+17del
NM_032043.3(BRIP1):c.2257+13T>C
NM_032043.3(BRIP1):c.2257+15T>C rs775380026
NM_032043.3(BRIP1):c.2257+19A>G rs77851913
NM_032043.3(BRIP1):c.2257+19A>T rs77851913
NM_032043.3(BRIP1):c.2257+1G>A rs2077029293
NM_032043.3(BRIP1):c.2257+20T>C
NM_032043.3(BRIP1):c.2257+3A>G rs2144694655
NM_032043.3(BRIP1):c.2257+7G>A rs2144694497
NM_032043.3(BRIP1):c.2257+8G>T rs2077029126
NM_032043.3(BRIP1):c.2257G>C (p.Asp753His) rs1603304458
NM_032043.3(BRIP1):c.2258-12C>G rs2144680873
NM_032043.3(BRIP1):c.2258-13T>C rs1567779896
NM_032043.3(BRIP1):c.2258-13dup rs2144680932
NM_032043.3(BRIP1):c.2258-19C>T rs1057524575
NM_032043.3(BRIP1):c.2258-19del rs2144681146
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2258-1G>C
NM_032043.3(BRIP1):c.2258-1G>T rs1064793887
NM_032043.3(BRIP1):c.2258-20G>A rs1555590610
NM_032043.3(BRIP1):c.2258-2dup rs2144680473
NM_032043.3(BRIP1):c.2258-3A>C rs786203561
NM_032043.3(BRIP1):c.2258-3A>G rs786203561
NM_032043.3(BRIP1):c.2258-5T>G rs1555590588
NM_032043.3(BRIP1):c.2258-6T>C rs2077009706
NM_032043.3(BRIP1):c.2258-7G>A rs1060501777
NM_032043.3(BRIP1):c.2258-7_2258-4del rs1064795010
NM_032043.3(BRIP1):c.2258-7_2258-5del
NM_032043.3(BRIP1):c.2258-9_2258-8dup
NM_032043.3(BRIP1):c.2259T>A (p.Asp753Glu) rs2077009355
NM_032043.3(BRIP1):c.2262A>T (p.Gly754=) rs1060504324
NM_032043.3(BRIP1):c.2263G>A (p.Ala755Thr)
NM_032043.3(BRIP1):c.2264C>G (p.Ala755Gly) rs1555590565
NM_032043.3(BRIP1):c.2264C>T (p.Ala755Val) rs1555590565
NM_032043.3(BRIP1):c.2268C>T (p.Leu756=) rs864622332
NM_032043.3(BRIP1):c.226G>T (p.Val76Leu) rs769573395
NM_032043.3(BRIP1):c.2272G>A (p.Val758Ile) rs1192826909
NM_032043.3(BRIP1):c.2272G>T (p.Val758Leu) rs1192826909
NM_032043.3(BRIP1):c.2274A>G (p.Val758=) rs786201526
NM_032043.3(BRIP1):c.2276C>G (p.Ala759Gly) rs2144679532
NM_032043.3(BRIP1):c.2280T>C (p.Val760=)
NM_032043.3(BRIP1):c.2282G>A (p.Cys761Tyr)
NM_032043.3(BRIP1):c.2282G>C (p.Cys761Ser) rs1567779745
NM_032043.3(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr) rs1555590511
NM_032043.3(BRIP1):c.2285G>T (p.Arg762Leu) rs200960251
NM_032043.3(BRIP1):c.228A>G (p.Val76=) rs2078910583
NM_032043.3(BRIP1):c.2290A>G (p.Lys764Glu) rs1603303860
NM_032043.3(BRIP1):c.2292A>G (p.Lys764=) rs2144678763
NM_032043.3(BRIP1):c.2296A>G (p.Ser766Gly)
NM_032043.3(BRIP1):c.2297G>A (p.Ser766Asn) rs2144678538
NM_032043.3(BRIP1):c.2298T>C (p.Ser766=) rs1603303851
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs) rs2144678308
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp) rs369434185
NM_032043.3(BRIP1):c.2302G>A (p.Gly768Ser) rs2077008054
NM_032043.3(BRIP1):c.2303G>T (p.Gly768Val) rs1603303846
NM_032043.3(BRIP1):c.2303_2308del (p.Gly768_Leu769del)
NM_032043.3(BRIP1):c.2307G>A (p.Leu769=) rs1555590464
NM_032043.3(BRIP1):c.2308G>A (p.Asp770Asn) rs2077007860
NM_032043.3(BRIP1):c.2308G>T (p.Asp770Tyr) rs2077007860
NM_032043.3(BRIP1):c.2309A>G (p.Asp770Gly) rs1555590457
NM_032043.3(BRIP1):c.2311T>C (p.Phe771Leu) rs2144677768
NM_032043.3(BRIP1):c.2313C>G (p.Phe771Leu)
NM_032043.3(BRIP1):c.2313C>T (p.Phe771=)
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs) rs758128094
NM_032043.3(BRIP1):c.2315C>T (p.Ser772Leu)
NM_032043.3(BRIP1):c.2317G>A (p.Asp773Asn) rs146091205
NM_032043.3(BRIP1):c.2319T>C (p.Asp773=) rs1555590447
NM_032043.3(BRIP1):c.2321A>G (p.Asp774Gly) rs992780498
NM_032043.3(BRIP1):c.2321A>T (p.Asp774Val)
NM_032043.3(BRIP1):c.2322C>A (p.Asp774Glu) rs1057520434
NM_032043.3(BRIP1):c.2322C>T (p.Asp774=) rs1057520434
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys) rs375146450
NM_032043.3(BRIP1):c.2326G>A (p.Ala776Thr) rs2077007192
NM_032043.3(BRIP1):c.2327C>A (p.Ala776Asp) rs1555590421
NM_032043.3(BRIP1):c.2328C>T (p.Ala776=) rs786203725
NM_032043.3(BRIP1):c.2329C>G (p.Arg777Gly) rs768555161
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys) rs768555161
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
NM_032043.3(BRIP1):c.232G>A (p.Glu78Lys) rs2145830931
NM_032043.3(BRIP1):c.2330G>C (p.Arg777Pro) rs747568830
NM_032043.3(BRIP1):c.2332G>A (p.Ala778Thr) rs2144676807
NM_032043.3(BRIP1):c.2332G>T (p.Ala778Ser) rs2144676807
NM_032043.3(BRIP1):c.2333C>T (p.Ala778Val) rs2077006983
NM_032043.3(BRIP1):c.2335G>A (p.Val779Ile) rs1603303802
NM_032043.3(BRIP1):c.2335G>C (p.Val779Leu) rs1603303802
NM_032043.3(BRIP1):c.2335G>T (p.Val779Phe) rs1603303802
NM_032043.3(BRIP1):c.2336T>A (p.Val779Asp) rs1567779485
NM_032043.3(BRIP1):c.2338A>G (p.Ile780Val) rs776131401
NM_032043.3(BRIP1):c.2339T>A (p.Ile780Lys) rs1467232177
NM_032043.3(BRIP1):c.2339T>C (p.Ile780Thr) rs1467232177
NM_032043.3(BRIP1):c.2339T>G (p.Ile780Arg) rs1467232177
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs) rs1555590388
NM_032043.3(BRIP1):c.2343A>G (p.Thr781=) rs772636536
NM_032043.3(BRIP1):c.2343A>T (p.Thr781=) rs772636536
NM_032043.3(BRIP1):c.2345T>A (p.Ile782Lys)
NM_032043.3(BRIP1):c.2348G>A (p.Gly783Glu) rs2077006387
NM_032043.3(BRIP1):c.2349A>T (p.Gly783=) rs863224799
NM_032043.3(BRIP1):c.2350A>G (p.Ile784Val) rs1603303771
NM_032043.3(BRIP1):c.2352T>A (p.Ile784=) rs2077006255
NM_032043.3(BRIP1):c.2352T>C (p.Ile784=)
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu) rs2144675861
NM_032043.3(BRIP1):c.2356T>C (p.Phe786Leu)
NM_032043.3(BRIP1):c.2360C>G (p.Pro787Arg) rs1555590356
NM_032043.3(BRIP1):c.2361A>C (p.Pro787=)
NM_032043.3(BRIP1):c.2364T>A (p.Asn788Lys) rs587783045
NM_032043.3(BRIP1):c.2364T>C (p.Asn788=) rs587783045
NM_032043.3(BRIP1):c.2365G>T (p.Val789Leu) rs876661097
NM_032043.3(BRIP1):c.2366T>C (p.Val789Ala) rs1060501728
NM_032043.3(BRIP1):c.236A>C (p.Lys79Thr) rs2145830866
NM_032043.3(BRIP1):c.2370_2379+20del rs2144674380
NM_032043.3(BRIP1):c.2372A>G (p.Asp791Gly) rs876658934
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val) rs876658934
NM_032043.3(BRIP1):c.2373T>A (p.Asp791Glu) rs876659615
NM_032043.3(BRIP1):c.2373T>C (p.Asp791=) rs876659615
NM_032043.3(BRIP1):c.2374C>A (p.Leu792Ile) rs2144675104
NM_032043.3(BRIP1):c.2375T>A (p.Leu792Gln)
NM_032043.3(BRIP1):c.2376A>G (p.Leu792=) rs554514054
NM_032043.3(BRIP1):c.2379+13A>C
NM_032043.3(BRIP1):c.2379+14A>T rs2144674551
NM_032043.3(BRIP1):c.2379+17T>G rs2144674490
NM_032043.3(BRIP1):c.2379+18T>C
NM_032043.3(BRIP1):c.2379+1G>T rs1555590286
NM_032043.3(BRIP1):c.2379+4G>A
NM_032043.3(BRIP1):c.2379+5G>C rs1567779316
NM_032043.3(BRIP1):c.2379+7C>T rs1057520464
NM_032043.3(BRIP1):c.2379+8A>G rs1567779307
NM_032043.3(BRIP1):c.2379+9T>C rs1555590278
NM_032043.3(BRIP1):c.237A>G (p.Lys79=)
NM_032043.3(BRIP1):c.237del (p.Ala80fs) rs2145830843
NM_032043.3(BRIP1):c.2380-10A>G rs2061858108
NM_032043.3(BRIP1):c.2380-11A>T
NM_032043.3(BRIP1):c.2380-11dup rs2144384661
NM_032043.3(BRIP1):c.2380-14T>C rs2144384810
NM_032043.3(BRIP1):c.2380-18dup
NM_032043.3(BRIP1):c.2380-1G>A rs1567756032
NM_032043.3(BRIP1):c.2380-20A>G rs977667900
NM_032043.3(BRIP1):c.2380-2A>C rs2144384449
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT rs2061856480
NM_032043.3(BRIP1):c.2380-4T>C rs2144384520
NM_032043.3(BRIP1):c.2380-6T>C
NM_032043.3(BRIP1):c.2380-7T>G rs2144384592
NM_032043.3(BRIP1):c.2380G>T (p.Val794Phe) rs1261005517
NM_032043.3(BRIP1):c.2383G>A (p.Glu795Lys)
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter) rs2144384208
NM_032043.3(BRIP1):c.2384A>G (p.Glu795Gly)
NM_032043.3(BRIP1):c.2386C>G (p.Leu796Val)
NM_032043.3(BRIP1):c.2386C>T (p.Leu796=) rs1057521362
NM_032043.3(BRIP1):c.2387T>C (p.Leu796Pro)
NM_032043.3(BRIP1):c.2388A>G (p.Leu796=) rs1057521977
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
NM_032043.3(BRIP1):c.2394A>T (p.Arg798=) rs540236878
NM_032043.3(BRIP1):c.2398T>C (p.Tyr800His) rs1305107535
NM_032043.3(BRIP1):c.2399A>G (p.Tyr800Cys) rs2061856846
NM_032043.3(BRIP1):c.23A>G (p.Tyr8Cys)
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=) rs574552037
NM_032043.3(BRIP1):c.2401A>G (p.Asn801Asp) rs1408016407
NM_032043.3(BRIP1):c.2404G>A (p.Asp802Asn)
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly) rs876660273
NM_032043.3(BRIP1):c.2406C>A (p.Asp802Glu) rs748981650
NM_032043.3(BRIP1):c.2407C>T (p.His803Tyr) rs2061856155
NM_032043.3(BRIP1):c.2409C>T (p.His803=) rs762039913
NM_032043.3(BRIP1):c.240T>G (p.Ala80=) rs745422385
NM_032043.3(BRIP1):c.2410C>T (p.His804Tyr)
NM_032043.3(BRIP1):c.2411A>G (p.His804Arg) rs777277034
NM_032043.3(BRIP1):c.2412T>C (p.His804=) rs1555580913
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter) rs2061855838
NM_032043.3(BRIP1):c.2415A>G (p.Ser805=) rs769413097
NM_032043.3(BRIP1):c.2416A>G (p.Lys806Glu) rs747622456
NM_032043.3(BRIP1):c.241del (p.Glu81fs) rs1292988272
NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly) rs587780237
NM_032043.3(BRIP1):c.2425G>A (p.Gly809Ser) rs1555580892
NM_032043.3(BRIP1):c.2426G>A (p.Gly809Asp)
NM_032043.3(BRIP1):c.2426G>T (p.Gly809Val) rs1555580886
NM_032043.3(BRIP1):c.2429T>C (p.Leu810Pro) rs2061855206
NM_032043.3(BRIP1):c.2429T>G (p.Leu810Arg)
NM_032043.3(BRIP1):c.2430T>C (p.Leu810=)
NM_032043.3(BRIP1):c.2431C>G (p.Leu811Val) rs2144381821
NM_032043.3(BRIP1):c.2433A>G (p.Leu811=) rs751455420
NM_032043.3(BRIP1):c.2433A>T (p.Leu811=) rs751455420
NM_032043.3(BRIP1):c.2434C>A (p.Pro812Thr) rs779915262
NM_032043.3(BRIP1):c.2435C>A (p.Pro812His) rs876659410
NM_032043.3(BRIP1):c.2435C>G (p.Pro812Arg) rs876659410
NM_032043.3(BRIP1):c.2435C>T (p.Pro812Leu) rs876659410
NM_032043.3(BRIP1):c.2436T>A (p.Pro812=) rs2061854737
NM_032043.3(BRIP1):c.2437G>C (p.Gly813Arg) rs2144381512
NM_032043.3(BRIP1):c.2439C>T (p.Gly813=)
NM_032043.3(BRIP1):c.243A>C (p.Glu81Asp)
NM_032043.3(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.3(BRIP1):c.2440C>A (p.Arg814Ser)
NM_032043.3(BRIP1):c.2440C>G (p.Arg814Gly) rs201869624
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
NM_032043.3(BRIP1):c.2444A>G (p.Gln815Arg)
NM_032043.3(BRIP1):c.2445G>A (p.Gln815=) rs764195906
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs) rs2144381014
NM_032043.3(BRIP1):c.2446T>C (p.Trp816Arg)
NM_032043.3(BRIP1):c.2446T>G (p.Trp816Gly) rs1338241931
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter) rs786204250
NM_032043.3(BRIP1):c.2448G>T (p.Trp816Cys) rs1064795352
NM_032043.3(BRIP1):c.2450A>G (p.Tyr817Cys) rs1555580828
NM_032043.3(BRIP1):c.2452G>A (p.Glu818Lys) rs1555580819
NM_032043.3(BRIP1):c.2452G>C (p.Glu818Gln) rs1555580819
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs) rs2144380398
NM_032043.3(BRIP1):c.245T>A (p.Val82Glu) rs876659594
NM_032043.3(BRIP1):c.245T>G (p.Val82Gly)
NM_032043.3(BRIP1):c.2460A>G (p.Gln820=) rs1555580812
NM_032043.3(BRIP1):c.2462C>T (p.Ala821Val) rs876658697
NM_032043.3(BRIP1):c.2463A>G (p.Ala821=) rs2144380143
NM_032043.3(BRIP1):c.2465A>G (p.Tyr822Cys) rs587781572
NM_032043.3(BRIP1):c.2466C>T (p.Tyr822=) rs2144379956
NM_032043.3(BRIP1):c.2468G>A (p.Arg823Lys) rs45479297
NM_032043.3(BRIP1):c.2468G>T (p.Arg823Met) rs45479297
NM_032043.3(BRIP1):c.2469G>A (p.Arg823=) rs587780239
NM_032043.3(BRIP1):c.246A>G (p.Val82=) rs864622659
NM_032043.3(BRIP1):c.2470G>T (p.Ala824Ser)
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=) rs767666616
NM_032043.3(BRIP1):c.2478C>G (p.Asn826Lys) rs774939280
NM_032043.3(BRIP1):c.2479C>A (p.Gln827Lys) rs786203898
NM_032043.3(BRIP1):c.2479C>G (p.Gln827Glu) rs786203898
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.3(BRIP1):c.2481G>C (p.Gln827His) rs2061853111
NM_032043.3(BRIP1):c.2483C>G (p.Ala828Gly) rs2061853042
NM_032043.3(BRIP1):c.2484C>A (p.Ala828=)
NM_032043.3(BRIP1):c.2484C>T (p.Ala828=) rs1277187413
NM_032043.3(BRIP1):c.2488G>A (p.Gly830Ser) rs876659062
NM_032043.3(BRIP1):c.2490T>C (p.Gly830=)
NM_032043.3(BRIP1):c.2491A>G (p.Arg831Gly) rs2144378901
NM_032043.3(BRIP1):c.2491del (p.Arg831fs) rs1555580769
NM_032043.3(BRIP1):c.2492+10G>A
NM_032043.3(BRIP1):c.2492+11T>A
NM_032043.3(BRIP1):c.2492+11T>G rs2061852455
NM_032043.3(BRIP1):c.2492+12G>A rs1424282420
NM_032043.3(BRIP1):c.2492+13A>T
NM_032043.3(BRIP1):c.2492+14A>G
NM_032043.3(BRIP1):c.2492+15A>G
NM_032043.3(BRIP1):c.2492+19A>G
NM_032043.3(BRIP1):c.2492+19A>T rs983179829
NM_032043.3(BRIP1):c.2492+1G>C rs1567755539
NM_032043.3(BRIP1):c.2492+1G>T
NM_032043.3(BRIP1):c.2492+1del rs1603293314
NM_032043.3(BRIP1):c.2492+2T>C
NM_032043.3(BRIP1):c.2492+3A>C rs1555580758
NM_032043.3(BRIP1):c.2492+3A>T
NM_032043.3(BRIP1):c.2492+5G>C rs763222019
NM_032043.3(BRIP1):c.2492+7G>A rs2144378579
NM_032043.3(BRIP1):c.2492+9A>C
NM_032043.3(BRIP1):c.2492+9A>G
NM_032043.3(BRIP1):c.2492G>A (p.Arg831Lys) rs771382903
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2493-10T>A rs776255327
NM_032043.3(BRIP1):c.2493-10T>C rs776255327
NM_032043.3(BRIP1):c.2493-10dup rs1457869893
NM_032043.3(BRIP1):c.2493-13C>T
NM_032043.3(BRIP1):c.2493-14C>T rs2061479652
NM_032043.3(BRIP1):c.2493-15C>T rs1009398860
NM_032043.3(BRIP1):c.2493-16T>C rs1555574835
NM_032043.3(BRIP1):c.2493-16T>G rs1555574835
NM_032043.3(BRIP1):c.2493-17T>C
NM_032043.3(BRIP1):c.2493-17_2493-16del
NM_032043.3(BRIP1):c.2493-1G>A rs786203451
NM_032043.3(BRIP1):c.2493-2A>G rs1603280621
NM_032043.3(BRIP1):c.2493-3T>G rs2061479378
NM_032043.3(BRIP1):c.2493-3_2493-1del
NM_032043.3(BRIP1):c.2493-4C>G rs1057521675
NM_032043.3(BRIP1):c.2493-8T>C rs2144188159
NM_032043.3(BRIP1):c.2493-9T>G
NM_032043.3(BRIP1):c.2494T>C (p.Cys832Arg) rs768222842
NM_032043.3(BRIP1):c.2494T>G (p.Cys832Gly) rs768222842
NM_032043.3(BRIP1):c.2495G>A (p.Cys832Tyr)
NM_032043.3(BRIP1):c.2495G>T (p.Cys832Phe)
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.3(BRIP1):c.2498T>C (p.Ile833Thr) rs876660936
NM_032043.3(BRIP1):c.2500A>G (p.Arg834Gly)
NM_032043.3(BRIP1):c.2501G>A (p.Arg834Lys)
NM_032043.3(BRIP1):c.2504A>G (p.His835Arg)
NM_032043.3(BRIP1):c.2505C>G (p.His835Gln) rs775547651
NM_032043.3(BRIP1):c.2507G>T (p.Arg836Ile) rs1060501736
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs) rs2061478781
NM_032043.3(BRIP1):c.2508A>C (p.Arg836Ser) rs2061478740
NM_032043.3(BRIP1):c.2510A>G (p.Asn837Ser) rs1555574810
NM_032043.3(BRIP1):c.2510del (p.Asn837fs) rs2144187480
NM_032043.3(BRIP1):c.2512G>C (p.Asp838His)
NM_032043.3(BRIP1):c.2513A>T (p.Asp838Val) rs1567737801
NM_032043.3(BRIP1):c.2515T>A (p.Trp839Arg) rs1555574807
NM_032043.3(BRIP1):c.2515T>G (p.Trp839Gly) rs1555574807
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.3(BRIP1):c.2519G>A (p.Gly840Glu)
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter) rs2145830278
NM_032043.3(BRIP1):c.2521G>A (p.Ala841Thr) rs1555574790
NM_032043.3(BRIP1):c.2524C>G (p.Leu842Val) rs786201802
NM_032043.3(BRIP1):c.2524C>T (p.Leu842Phe) rs786201802
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs) rs1555574788
NM_032043.3(BRIP1):c.2525T>C (p.Leu842Pro) rs1060501751
NM_032043.3(BRIP1):c.2525T>G (p.Leu842Arg) rs1060501751
NM_032043.3(BRIP1):c.2526T>C (p.Leu842=) rs1603280539
NM_032043.3(BRIP1):c.2528T>C (p.Ile843Thr) rs996693020
NM_032043.3(BRIP1):c.2532A>G (p.Leu844=) rs1603280519
NM_032043.3(BRIP1):c.2536G>C (p.Asp846His) rs876659409
NM_032043.3(BRIP1):c.2537A>T (p.Asp846Val) rs2144186438
NM_032043.3(BRIP1):c.2538T>C (p.Asp846=) rs2144186341
NM_032043.3(BRIP1):c.2538T>G (p.Asp846Glu)
NM_032043.3(BRIP1):c.2539G>A (p.Asp847Asn) rs876659013
NM_032043.3(BRIP1):c.253T>C (p.Ser85Pro) rs2145830182
NM_032043.3(BRIP1):c.2540A>G (p.Asp847Gly)
NM_032043.3(BRIP1):c.2542C>A (p.Arg848Ser) rs45572934
NM_032043.3(BRIP1):c.2542C>G (p.Arg848Gly) rs45572934
NM_032043.3(BRIP1):c.2542C>T (p.Arg848Cys) rs45572934
NM_032043.3(BRIP1):c.2545T>C (p.Phe849Leu) rs786202317
NM_032043.3(BRIP1):c.2549G>A (p.Arg850Lys) rs2061477480
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter) rs587781830
NM_032043.3(BRIP1):c.2550G>T (p.Arg850Ser) rs2144185990
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser) rs2061477443
NM_032043.3(BRIP1):c.2553T>G (p.Asn851Lys) rs587781793
NM_032043.3(BRIP1):c.2556C>A (p.Asn852Lys)
NM_032043.3(BRIP1):c.2556C>G (p.Asn852Lys) rs876658785
NM_032043.3(BRIP1):c.2556C>T (p.Asn852=) rs876658785
NM_032043.3(BRIP1):c.2558C>G (p.Pro853Arg) rs1060501775
NM_032043.3(BRIP1):c.2558C>T (p.Pro853Leu) rs1060501775
NM_032043.3(BRIP1):c.255A>C (p.Ser85=) rs2078909755
NM_032043.3(BRIP1):c.255A>G (p.Ser85=)
NM_032043.3(BRIP1):c.2561G>A (p.Ser854Asn) rs2061477133
NM_032043.3(BRIP1):c.2561G>T (p.Ser854Ile) rs2061477133
NM_032043.3(BRIP1):c.2562T>C (p.Ser854=) rs1555574734
NM_032043.3(BRIP1):c.2562T>G (p.Ser854Arg) rs1555574734
NM_032043.3(BRIP1):c.2563C>A (p.Arg855Ser) rs146031731
NM_032043.3(BRIP1):c.2564G>T (p.Arg855Leu) rs200894063
NM_032043.3(BRIP1):c.2565C>T (p.Arg855=)
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His) rs2061476921
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter) rs370175724
NM_032043.3(BRIP1):c.256T>C (p.Cys86Arg) rs1555617900
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del) rs587781388
NM_032043.3(BRIP1):c.2570T>C (p.Ile857Thr) rs766432760
NM_032043.3(BRIP1):c.2571A>T (p.Ile857=) rs1427254734
NM_032043.3(BRIP1):c.2574T>C (p.Ser858=) rs1555574712
NM_032043.3(BRIP1):c.2575+10C>T rs1060504322
NM_032043.3(BRIP1):c.2575+12G>A rs1555574706
NM_032043.3(BRIP1):c.2575+12G>C rs1555574706
NM_032043.3(BRIP1):c.2575+13C>G
NM_032043.3(BRIP1):c.2575+14T>C rs1567737501
NM_032043.3(BRIP1):c.2575+15G>C
NM_032043.3(BRIP1):c.2575+16G>A
NM_032043.3(BRIP1):c.2575+1G>C
NM_032043.3(BRIP1):c.2575+1G>T rs1567737536
NM_032043.3(BRIP1):c.2575+20T>C
NM_032043.3(BRIP1):c.2575+2dup rs1555574711
NM_032043.3(BRIP1):c.2575+6A>G rs1555574710
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg) rs2061476512
NM_032043.3(BRIP1):c.2576-12C>A rs2061362510
NM_032043.3(BRIP1):c.2576-12C>T rs2061362510
NM_032043.3(BRIP1):c.2576-13C>T
NM_032043.3(BRIP1):c.2576-14A>T
NM_032043.3(BRIP1):c.2576-16T>G
NM_032043.3(BRIP1):c.2576-17T>C rs1057517647
NM_032043.3(BRIP1):c.2576-17T>G rs1057517647
NM_032043.3(BRIP1):c.2576-18G>A rs1369955810
NM_032043.3(BRIP1):c.2576-18G>T
NM_032043.3(BRIP1):c.2576-19G>A rs1057521888
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2576-1G>T rs587782539
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_032043.3(BRIP1):c.2576-3T>C rs2144119000
NM_032043.3(BRIP1):c.2576-4T>C rs1603277027
NM_032043.3(BRIP1):c.2576-6C>T
NM_032043.3(BRIP1):c.2576-7T>A rs759408257
NM_032043.3(BRIP1):c.2576-8T>C rs587780874
NM_032043.3(BRIP1):c.2578C>T (p.Leu860Phe) rs1555573507
NM_032043.3(BRIP1):c.2580T>C (p.Leu860=) rs1603277017
NM_032043.3(BRIP1):c.2581T>C (p.Ser861Pro) rs1567732145
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs) rs1567732136
NM_032043.3(BRIP1):c.2583T>G (p.Ser861=) rs2144118726
NM_032043.3(BRIP1):c.2584A>G (p.Lys862Glu) rs1603277012
NM_032043.3(BRIP1):c.2586A>G (p.Lys862=) rs745318756
NM_032043.3(BRIP1):c.2586A>T (p.Lys862Asn) rs745318756
NM_032043.3(BRIP1):c.2587T>C (p.Trp863Arg) rs876660452
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs) rs1603277005
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.3(BRIP1):c.2591T>C (p.Val864Ala) rs1294102948
NM_032043.3(BRIP1):c.2592A>G (p.Val864=) rs2061361778
NM_032043.3(BRIP1):c.2594G>C (p.Arg865Pro) rs781609846
NM_032043.3(BRIP1):c.2595G>A (p.Arg865=)
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
NM_032043.3(BRIP1):c.2597A>T (p.Gln866Leu) rs1603276987
NM_032043.3(BRIP1):c.2599C>A (p.Gln867Lys) rs182028200
NM_032043.3(BRIP1):c.259T>A (p.Cys87Ser) rs1555617897
NM_032043.3(BRIP1):c.259T>C (p.Cys87Arg) rs1555617897
NM_032043.3(BRIP1):c.25A>G (p.Thr9Ala) rs2078973246
NM_032043.3(BRIP1):c.2600A>C (p.Gln867Pro)
NM_032043.3(BRIP1):c.2603T>C (p.Ile868Thr) rs2061361421
NM_032043.3(BRIP1):c.2604T>C (p.Ile868=) rs1555573489
NM_032043.3(BRIP1):c.2605C>G (p.Gln869Glu) rs1060501766
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter) rs1060501766
NM_032043.3(BRIP1):c.2606A>C (p.Gln869Pro)
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
NM_032043.3(BRIP1):c.2609A>C (p.His870Pro) rs864622201
NM_032043.3(BRIP1):c.2609A>G (p.His870Arg)
NM_032043.3(BRIP1):c.260G>A (p.Cys87Tyr) rs863224800
NM_032043.3(BRIP1):c.260G>C (p.Cys87Ser) rs863224800
NM_032043.3(BRIP1):c.2610C>A (p.His870Gln)
NM_032043.3(BRIP1):c.2610C>G (p.His870Gln) rs2144117805
NM_032043.3(BRIP1):c.2611C>T (p.His871Tyr) rs786203288
NM_032043.3(BRIP1):c.2613T>A (p.His871Gln)
NM_032043.3(BRIP1):c.2614T>A (p.Ser872Thr) rs2061360803
NM_032043.3(BRIP1):c.2615C>T (p.Ser872Leu) rs587781964
NM_032043.3(BRIP1):c.2617A>T (p.Thr873Ser) rs758444508
NM_032043.3(BRIP1):c.2624A>G (p.Glu875Gly)
NM_032043.3(BRIP1):c.2626A>G (p.Ser876Gly) rs1555573469
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn) rs750961319
NM_032043.3(BRIP1):c.2628T>A (p.Ser876Arg)
NM_032043.3(BRIP1):c.2628T>G (p.Ser876Arg) rs1032574757
NM_032043.3(BRIP1):c.2629G>A (p.Ala877Thr)
NM_032043.3(BRIP1):c.2629G>C (p.Ala877Pro) rs1567731966
NM_032043.3(BRIP1):c.262T>G (p.Cys88Gly) rs1555617890
NM_032043.3(BRIP1):c.2630C>T (p.Ala877Val) rs1555573465
NM_032043.3(BRIP1):c.2631A>G (p.Ala877=) rs786201336
NM_032043.3(BRIP1):c.2634G>A (p.Leu878=)
NM_032043.3(BRIP1):c.2635G>A (p.Glu879Lys) rs1391013628
NM_032043.3(BRIP1):c.2636A>G (p.Glu879Gly) rs1202665874
NM_032043.3(BRIP1):c.263G>A (p.Cys88Tyr)
NM_032043.3(BRIP1):c.2640C>T (p.Ser880=) rs2144116731
NM_032043.3(BRIP1):c.2640del (p.Leu881fs) rs1567731917
NM_032043.3(BRIP1):c.2642T>C (p.Leu881Ser) rs2061359874
NM_032043.3(BRIP1):c.2642T>G (p.Leu881Trp) rs2061359874
NM_032043.3(BRIP1):c.2643G>A (p.Leu881=) rs2144116635
NM_032043.3(BRIP1):c.2647G>A (p.Glu883Lys) rs2061359691
NM_032043.3(BRIP1):c.2648A>G (p.Glu883Gly)
NM_032043.3(BRIP1):c.264T>C (p.Cys88=)
NM_032043.3(BRIP1):c.2655C>T (p.Ser885=) rs2061359430
NM_032043.3(BRIP1):c.2656A>C (p.Lys886Gln)
NM_032043.3(BRIP1):c.265G>A (p.Ala89Thr) rs1555617884
NM_032043.3(BRIP1):c.265G>T (p.Ala89Ser)
NM_032043.3(BRIP1):c.2661G>T (p.Lys887Asn)
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp) rs757668121
NM_032043.3(BRIP1):c.2663A>C (p.His888Pro) rs2061359359
NM_032043.3(BRIP1):c.2664T>C (p.His888=) rs2144115975
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
NM_032043.3(BRIP1):c.2666A>G (p.Gln889Arg) rs2061359230
NM_032043.3(BRIP1):c.2667A>G (p.Gln889=)
NM_032043.3(BRIP1):c.2668A>C (p.Lys890Gln)
NM_032043.3(BRIP1):c.2669A>G (p.Lys890Arg) rs902432731
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.3(BRIP1):c.2670A>G (p.Lys890=) rs1603276885
NM_032043.3(BRIP1):c.2670del (p.Val891fs) rs2144115743
NM_032043.3(BRIP1):c.2671G>A (p.Val891Ile) rs754224663
NM_032043.3(BRIP1):c.2672T>C (p.Val891Ala)
NM_032043.3(BRIP1):c.2674C>G (p.Leu892Val) rs2144115542
NM_032043.3(BRIP1):c.2675T>A (p.Leu892His) rs2061358811
NM_032043.3(BRIP1):c.2676T>C (p.Leu892=) rs2144115485
NM_032043.3(BRIP1):c.2677A>C (p.Asn893His) rs2144115463
NM_032043.3(BRIP1):c.2679T>C (p.Asn893=) rs2144115408
NM_032043.3(BRIP1):c.267A>G (p.Ala89=) rs764027029
NM_032043.3(BRIP1):c.267A>T (p.Ala89=) rs764027029
NM_032043.3(BRIP1):c.2680G>A (p.Val894Ile) rs1603276880
NM_032043.3(BRIP1):c.2682A>G (p.Val894=) rs1555573439
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
NM_032043.3(BRIP1):c.2684C>T (p.Ser895Phe)
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2686A>C (p.Ile896Leu) rs764406913
NM_032043.3(BRIP1):c.2690del (p.Lys897fs) rs2061358219
NM_032043.3(BRIP1):c.2691G>A (p.Lys897=) rs1555573425
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
NM_032043.3(BRIP1):c.2693A>G (p.Asp898Gly)
NM_032043.3(BRIP1):c.2697A>C (p.Arg899Ser) rs1603276849
NM_032043.3(BRIP1):c.2698A>C (p.Thr900Pro)
NM_032043.3(BRIP1):c.2699C>A (p.Thr900Asn) rs1359809807
NM_032043.3(BRIP1):c.2699C>G (p.Thr900Ser) rs1359809807
NM_032043.3(BRIP1):c.2699C>T (p.Thr900Ile)
NM_032043.3(BRIP1):c.26del (p.Thr9fs) rs2145865744
NM_032043.3(BRIP1):c.2700C>A (p.Thr900=)
NM_032043.3(BRIP1):c.2700C>G (p.Thr900=)
NM_032043.3(BRIP1):c.2700C>T (p.Thr900=)
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys) rs1603276837
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
NM_032043.3(BRIP1):c.2708A>C (p.Gln903Pro) rs2061357542
NM_032043.3(BRIP1):c.2708A>G (p.Gln903Arg)
NM_032043.3(BRIP1):c.2709G>A (p.Gln903=)
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.3(BRIP1):c.270C>T (p.Cys90=) rs1060501740
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn) rs1555573413
NM_032043.3(BRIP1):c.2712C>A (p.Asp904Glu) rs1567731807
NM_032043.3(BRIP1):c.2714A>G (p.Asn905Ser) rs1555573412
NM_032043.3(BRIP1):c.2714del (p.Asn905fs) rs2144114210
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter) rs759080195
NM_032043.3(BRIP1):c.2718G>T (p.Glu906Asp) rs1042327124
NM_032043.3(BRIP1):c.271C>T (p.His91Tyr) rs2145829433
NM_032043.3(BRIP1):c.2720C>T (p.Ser907Phe) rs2061357079
NM_032043.3(BRIP1):c.2721T>A (p.Ser907=) rs774467171
NM_032043.3(BRIP1):c.2721T>C (p.Ser907=) rs774467171
NM_032043.3(BRIP1):c.2725C>A (p.Leu909Ile)
NM_032043.3(BRIP1):c.2725C>G (p.Leu909Val) rs587781853
NM_032043.3(BRIP1):c.2725C>T (p.Leu909Phe) rs587781853
NM_032043.3(BRIP1):c.2726T>C (p.Leu909Pro) rs770966270
NM_032043.3(BRIP1):c.2726T>G (p.Leu909Arg) rs770966270
NM_032043.3(BRIP1):c.2728G>C (p.Glu910Gln) rs1007808618
NM_032043.3(BRIP1):c.2729A>G (p.Glu910Gly) rs1603276787
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs) rs2144113535
NM_032043.3(BRIP1):c.272A>C (p.His91Pro)
NM_032043.3(BRIP1):c.2731G>T (p.Val911Leu) rs1555573392
NM_032043.3(BRIP1):c.2732T>G (p.Val911Gly) rs2144113358
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
NM_032043.3(BRIP1):c.2735C>A (p.Thr912Asn) rs571949350
NM_032043.3(BRIP1):c.2737T>G (p.Ser913Ala) rs1555573382
NM_032043.3(BRIP1):c.2737del (p.Ser913fs) rs1555573386
NM_032043.3(BRIP1):c.2739T>C (p.Ser913=) rs878855147
NM_032043.3(BRIP1):c.273T>G (p.His91Gln) rs2145829382
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.3(BRIP1):c.2741del (p.Ser913_Leu914insTer) rs2144113001
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs) rs2144112699
NM_032043.3(BRIP1):c.2746T>A (p.Tyr916Asn)
NM_032043.3(BRIP1):c.2746T>C (p.Tyr916His) rs2144112786
NM_032043.3(BRIP1):c.2749A>G (p.Ser917Gly) rs1603276749
NM_032043.3(BRIP1):c.274T>C (p.Ser92Pro) rs755930156
NM_032043.3(BRIP1):c.2752A>G (p.Thr918Ala) rs1060501759
NM_032043.3(BRIP1):c.2753C>G (p.Thr918Ser)
NM_032043.3(BRIP1):c.2753C>T (p.Thr918Ile) rs587781298
NM_032043.3(BRIP1):c.2754C>T (p.Thr918=) rs878855148
NM_032043.3(BRIP1):c.2754_2755delinsTC (p.Ser919Pro)
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs) rs1603276728
NM_032043.3(BRIP1):c.2759C>T (p.Pro920Leu)
NM_032043.3(BRIP1):c.275C>T (p.Ser92Leu)
NM_032043.3(BRIP1):c.2761T>A (p.Tyr921Asn) rs2144112225
NM_032043.3(BRIP1):c.2763T>C (p.Tyr921=) rs1555573356
NM_032043.3(BRIP1):c.2764_2784del (p.Leu923_Leu929del) rs2061355023
NM_032043.3(BRIP1):c.2766A>G (p.Leu922=) rs2144112073
NM_032043.3(BRIP1):c.2767C>T (p.Leu923=) rs1057521544
NM_032043.3(BRIP1):c.2768T>C (p.Leu923Pro) rs2144112007
NM_032043.3(BRIP1):c.2769G>A (p.Leu923=) rs1183897309
NM_032043.3(BRIP1):c.276A>G (p.Ser92=) rs786202281
NM_032043.3(BRIP1):c.2770G>A (p.Glu924Lys) rs1555573342
NM_032043.3(BRIP1):c.2771A>T (p.Glu924Val) rs1567731533
NM_032043.3(BRIP1):c.2772A>G (p.Glu924=) rs730881625
NM_032043.3(BRIP1):c.2773G>A (p.Ala925Thr) rs2061355245
NM_032043.3(BRIP1):c.2774C>G (p.Ala925Gly) rs2061355212
NM_032043.3(BRIP1):c.2775A>G (p.Ala925=) rs1340804078
NM_032043.3(BRIP1):c.2779A>G (p.Ser927Gly) rs2061355061
NM_032043.3(BRIP1):c.2785C>T (p.Leu929=) rs1603276698
NM_032043.3(BRIP1):c.2786T>C (p.Leu929Pro) rs772087074
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs) rs1295703239
NM_032043.3(BRIP1):c.2788T>A (p.Ser930Thr)
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2790A>C (p.Ser930=)
NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser) rs745940032
NM_032043.3(BRIP1):c.2792C>A (p.Pro931Gln) rs932408573
NM_032043.3(BRIP1):c.2792C>T (p.Pro931Leu) rs932408573
NM_032043.3(BRIP1):c.2792del (p.Pro931fs) rs1555573327
NM_032043.3(BRIP1):c.2799T>C (p.Asn933=) rs2144110883
NM_032043.3(BRIP1):c.2801T>G (p.Phe934Cys) rs778916092
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met) rs1219152456
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala) rs4988356
NM_032043.3(BRIP1):c.2805G>C (p.Val935=)
NM_032043.3(BRIP1):c.2807A>G (p.Glu936Gly) rs878855149
NM_032043.3(BRIP1):c.2807A>T (p.Glu936Val) rs878855149
NM_032043.3(BRIP1):c.2808A>G (p.Glu936=)
NM_032043.3(BRIP1):c.2809G>A (p.Asp937Asn) rs2061354513
NM_032043.3(BRIP1):c.2809G>T (p.Asp937Tyr) rs2061354513
NM_032043.3(BRIP1):c.2810A>G (p.Asp937Gly) rs2061354479
NM_032043.3(BRIP1):c.2811T>G (p.Asp937Glu) rs374335608
NM_032043.3(BRIP1):c.2812G>A (p.Glu938Lys) rs199643061
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter) rs199643061
NM_032043.3(BRIP1):c.2813A>G (p.Glu938Gly)
NM_032043.3(BRIP1):c.2814A>C (p.Glu938Asp) rs1555573311
NM_032043.3(BRIP1):c.2814A>G (p.Glu938=) rs1555573311
NM_032043.3(BRIP1):c.2815G>A (p.Ala939Thr) rs2061354305
NM_032043.3(BRIP1):c.2817A>G (p.Ala939=)
NM_032043.3(BRIP1):c.2820G>C (p.Lys940Asn)
NM_032043.3(BRIP1):c.2821A>C (p.Ile941Leu)
NM_032043.3(BRIP1):c.2821A>G (p.Ile941Val) rs2144110175
NM_032043.3(BRIP1):c.2824T>A (p.Cys942Ser)
NM_032043.3(BRIP1):c.2824T>C (p.Cys942Arg) rs1567731308
NM_032043.3(BRIP1):c.2825G>A (p.Cys942Tyr) rs370330739
NM_032043.3(BRIP1):c.2827G>C (p.Val943Leu) rs1401830781
NM_032043.3(BRIP1):c.2828T>C (p.Val943Ala) rs786204143
NM_032043.3(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.3(BRIP1):c.2829C>G (p.Val943=) rs767164240
NM_032043.3(BRIP1):c.2829C>T (p.Val943=) rs767164240
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.3(BRIP1):c.2831A>C (p.Gln944Pro) rs148232408
NM_032043.3(BRIP1):c.2831A>G (p.Gln944Arg) rs148232408
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
NM_032043.3(BRIP1):c.2832G>C (p.Gln944His) rs1603276606
NM_032043.3(BRIP1):c.2833G>A (p.Glu945Lys) rs863224802
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter) rs863224802
NM_032043.3(BRIP1):c.2835A>G (p.Glu945=) rs786203633
NM_032043.3(BRIP1):c.2836C>A (p.Leu946Ile) rs1603276593
NM_032043.3(BRIP1):c.2836C>G (p.Leu946Val) rs1603276593
NM_032043.3(BRIP1):c.2837T>A (p.Leu946Gln)
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter) rs2061353270
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
NM_032043.3(BRIP1):c.283T>G (p.Phe95Val)
NM_032043.3(BRIP1):c.2840A>G (p.Gln947Arg) rs876659756
NM_032043.3(BRIP1):c.2844T>G (p.Cys948Trp) rs1567731150
NM_032043.3(BRIP1):c.2847T>C (p.Pro949=) rs45499991
NM_032043.3(BRIP1):c.2847T>G (p.Pro949=) rs45499991
NM_032043.3(BRIP1):c.2848A>C (p.Lys950Gln)
NM_032043.3(BRIP1):c.2850A>C (p.Lys950Asn) rs1603276576
NM_032043.3(BRIP1):c.2851A>G (p.Ile951Val) rs730881626
NM_032043.3(BRIP1):c.2853T>C (p.Ile951=)
NM_032043.3(BRIP1):c.2855T>G (p.Ile952Ser) rs1060501735
NM_032043.3(BRIP1):c.2857A>G (p.Thr953Ala) rs587780245
NM_032043.3(BRIP1):c.2858C>A (p.Thr953Asn)
NM_032043.3(BRIP1):c.2859C>A (p.Thr953=) rs786201685
NM_032043.3(BRIP1):c.2861A>C (p.Lys954Thr) rs2144108739
NM_032043.3(BRIP1):c.2861A>G (p.Lys954Arg) rs2144108739
NM_032043.3(BRIP1):c.2863A>G (p.Asn955Asp) rs587782244
NM_032043.3(BRIP1):c.2864A>G (p.Asn955Ser) rs2144108643
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.3(BRIP1):c.2868A>G (p.Ser956=) rs1060504321
NM_032043.3(BRIP1):c.2869C>G (p.Pro957Ala) rs2061352600
NM_032043.3(BRIP1):c.286A>G (p.Thr96Ala)
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu) rs786203077
NM_032043.3(BRIP1):c.2871T>C (p.Pro957=) rs786202095
NM_032043.3(BRIP1):c.2872C>T (p.Leu958=) rs1555573260
NM_032043.3(BRIP1):c.2873T>C (p.Leu958Pro) rs145859791
NM_032043.3(BRIP1):c.2874A>C (p.Leu958=)
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.3(BRIP1):c.2878A>C (p.Ser960Arg) rs1603276532
NM_032043.3(BRIP1):c.2878A>G (p.Ser960Gly) rs1603276532
NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile) rs2078908690
NM_032043.3(BRIP1):c.2882G>A (p.Ser961Asn) rs1060501732
NM_032043.3(BRIP1):c.2883C>T (p.Ser961=) rs367728797
NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val) rs1603276520
NM_032043.3(BRIP1):c.288A>G (p.Thr96=) rs1278121295
NM_032043.3(BRIP1):c.2891C>T (p.Ser964Phe)
NM_032043.3(BRIP1):c.2893A>G (p.Arg965Gly)
NM_032043.3(BRIP1):c.2894G>A (p.Arg965Lys) rs2061351932
NM_032043.3(BRIP1):c.2895A>G (p.Arg965=) rs2061351890
NM_032043.3(BRIP1):c.2896A>G (p.Lys966Glu)
NM_032043.3(BRIP1):c.2897A>G (p.Lys966Arg)
NM_032043.3(BRIP1):c.2898G>A (p.Lys966=) rs1603276512
NM_032043.3(BRIP1):c.2899G>A (p.Glu967Lys) rs1305928655
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
NM_032043.3(BRIP1):c.289A>T (p.Asn97Tyr) rs2078908581
NM_032043.3(BRIP1):c.28A>G (p.Ile10Val) rs945685514
NM_032043.3(BRIP1):c.2905+117_2905+118insTA rs2144105643
NM_032043.3(BRIP1):c.2905+11T>C
NM_032043.3(BRIP1):c.2905+13C>A rs2144107162
NM_032043.3(BRIP1):c.2905+16C>G rs778341139
NM_032043.3(BRIP1):c.2905+17C>A rs1458780264
NM_032043.3(BRIP1):c.2905+17C>G rs1458780264
NM_032043.3(BRIP1):c.2905+17C>T rs1458780264
NM_032043.3(BRIP1):c.2905+18C>T
NM_032043.3(BRIP1):c.2905+19A>G rs1363568922
NM_032043.3(BRIP1):c.2905+19_2905+23del rs1157279744
NM_032043.3(BRIP1):c.2905+1G>A rs876660203
NM_032043.3(BRIP1):c.2905+2T>A
NM_032043.3(BRIP1):c.2905+3A>T
NM_032043.3(BRIP1):c.2905+4T>A rs373835270
NM_032043.3(BRIP1):c.2905+5G>A
NM_032043.3(BRIP1):c.2905+9A>C rs770944170
NM_032043.3(BRIP1):c.2906-10G>A rs1437222408
NM_032043.3(BRIP1):c.2906-13C>A
NM_032043.3(BRIP1):c.2906-13C>T
NM_032043.3(BRIP1):c.2906-15T>C
NM_032043.3(BRIP1):c.2906-17A>C
NM_032043.3(BRIP1):c.2906-18A>C
NM_032043.3(BRIP1):c.2906-18A>G
NM_032043.3(BRIP1):c.2906-18dup rs1456830185
NM_032043.3(BRIP1):c.2906-2A>C
NM_032043.3(BRIP1):c.2906-3T>A rs370819200
NM_032043.3(BRIP1):c.2906-3T>G rs370819200
NM_032043.3(BRIP1):c.2906-6T>A
NM_032043.3(BRIP1):c.2906-7T>C rs1237575383
NM_032043.3(BRIP1):c.2906-7T>G rs1237575383
NM_032043.3(BRIP1):c.2906-8A>G rs1555573005
NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser) rs1603275723
NM_032043.3(BRIP1):c.2907T>C (p.Asn969=) rs1555572999
NM_032043.3(BRIP1):c.2908G>A (p.Asp970Asn) rs1555572994
NM_032043.3(BRIP1):c.2909A>C (p.Asp970Ala)
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.2913A>G (p.Pro971=) rs1603275716
NM_032043.3(BRIP1):c.2914G>C (p.Val972Leu)
NM_032043.3(BRIP1):c.2915T>G (p.Val972Gly)
NM_032043.3(BRIP1):c.2916A>G (p.Val972=)
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile) rs1060501727
NM_032043.3(BRIP1):c.2917T>G (p.Phe973Val) rs1060501727
NM_032043.3(BRIP1):c.291C>A (p.Asn97Lys) rs766561078
NM_032043.3(BRIP1):c.291C>T (p.Asn97=) rs766561078
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
NM_032043.3(BRIP1):c.2923G>C (p.Glu975Gln) rs1603275707
NM_032043.3(BRIP1):c.2929G>A (p.Ala977Thr) rs864622628
NM_032043.3(BRIP1):c.2929G>C (p.Ala977Pro) rs864622628
NM_032043.3(BRIP1):c.2929G>T (p.Ala977Ser) rs864622628
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer) rs2145828926
NM_032043.3(BRIP1):c.2932G>A (p.Gly978Arg)
NM_032043.3(BRIP1):c.2932G>C (p.Gly978Arg) rs2061326304
NM_032043.3(BRIP1):c.2938G>C (p.Ala980Pro) rs2061325944
NM_032043.3(BRIP1):c.2939C>A (p.Ala980Glu)
NM_032043.3(BRIP1):c.2940A>C (p.Ala980=) rs1603275683
NM_032043.3(BRIP1):c.2944A>G (p.Lys982Glu) rs1316369686
NM_032043.3(BRIP1):c.2946A>T (p.Lys982Asn) rs2144093397
NM_032043.3(BRIP1):c.2947A>G (p.Ile983Val) rs755337038
NM_032043.3(BRIP1):c.2947A>T (p.Ile983Phe) rs755337038
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr) rs587781417
NM_032043.3(BRIP1):c.2949T>G (p.Ile983Met) rs746715917
NM_032043.3(BRIP1):c.294T>C (p.Asn98=) rs1555617859
NM_032043.3(BRIP1):c.294T>G (p.Asn98Lys) rs1555617859
NM_032043.3(BRIP1):c.2950G>A (p.Val984Met) rs2061325330
NM_032043.3(BRIP1):c.2950G>T (p.Val984Leu) rs2061325330
NM_032043.3(BRIP1):c.2953A>G (p.Ile985Val)
NM_032043.3(BRIP1):c.2954T>C (p.Ile985Thr)
NM_032043.3(BRIP1):c.2958C>T (p.Ser986=) rs1603275662
NM_032043.3(BRIP1):c.2959A>C (p.Arg987=) rs1603275660
NM_032043.3(BRIP1):c.295G>A (p.Asp99Asn) rs1603366321
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.3(BRIP1):c.2962T>C (p.Ser988Pro) rs2061324880
NM_032043.3(BRIP1):c.2962del (p.Ser988fs) rs2061324917
NM_032043.3(BRIP1):c.2963C>T (p.Ser988Phe) rs758032378
NM_032043.3(BRIP1):c.2966C>G (p.Thr989Arg)
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
NM_032043.3(BRIP1):c.2969G>A (p.Ser990Asn) rs2144092757
NM_032043.3(BRIP1):c.2970C>G (p.Ser990Arg)
NM_032043.3(BRIP1):c.2970C>T (p.Ser990=) rs1603275650
NM_032043.3(BRIP1):c.2972C>G (p.Pro991Arg)
NM_032043.3(BRIP1):c.2972C>T (p.Pro991Leu) rs2061324725
NM_032043.3(BRIP1):c.2973A>G (p.Pro991=)
NM_032043.3(BRIP1):c.2974A>T (p.Thr992Ser) rs1276811545
NM_032043.3(BRIP1):c.2975C>A (p.Thr992Asn) rs2061324557
NM_032043.3(BRIP1):c.2975C>T (p.Thr992Ile) rs2061324557
NM_032043.3(BRIP1):c.2978T>A (p.Phe993Tyr)
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs) rs2144092520
NM_032043.3(BRIP1):c.2979C>T (p.Phe993=)
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu) rs201617644
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
NM_032043.3(BRIP1):c.2983A>G (p.Lys995Glu) rs1555572929
NM_032043.3(BRIP1):c.2986C>G (p.Gln996Glu) rs1567729513
NM_032043.3(BRIP1):c.2987A>G (p.Gln996Arg) rs1603275641
NM_032043.3(BRIP1):c.298A>T (p.Met100Leu)
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs) rs771028677
NM_032043.3(BRIP1):c.2991A>C (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.2992A>G (p.Lys998Glu) rs1603275633
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.2994G>A (p.Lys998=) rs757225144
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn) rs757225144
NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)
NM_032043.3(BRIP1):c.2996G>T (p.Arg999Ile) rs1603275620
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr) rs587782427
NM_032043.3(BRIP1):c.3002G>A (p.Ser1001Asn) rs1603275610
NM_032043.3(BRIP1):c.3002G>C (p.Ser1001Thr)
NM_032043.3(BRIP1):c.3003C>T (p.Ser1001=) rs2144091676
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
NM_032043.3(BRIP1):c.3009A>C (p.Ser1003=)
NM_032043.3(BRIP1):c.3009A>G (p.Ser1003=) rs751823379
NM_032043.3(BRIP1):c.3015T>C (p.Phe1005=)
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter) rs1603275598
NM_032043.3(BRIP1):c.3017A>G (p.Asn1006Ser)
NM_032043.3(BRIP1):c.301A>G (p.Asn101Asp) rs2145828545
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.3(BRIP1):c.3022T>A (p.Leu1008Met) rs1165704345
NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)
NM_032043.3(BRIP1):c.3023T>C (p.Leu1008Ser) rs2061323067
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs) rs2144091036
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs) rs2144091008
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg) rs587781328
NM_032043.3(BRIP1):c.3025G>C (p.Gly1009Arg) rs587781328
NM_032043.3(BRIP1):c.3026G>A (p.Gly1009Glu) rs1555572908
NM_032043.3(BRIP1):c.3026G>T (p.Gly1009Val) rs1555572908
NM_032043.3(BRIP1):c.3027A>G (p.Gly1009=) rs786201171
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
NM_032043.3(BRIP1):c.3031T>C (p.Tyr1011His) rs1567729362
NM_032043.3(BRIP1):c.3039T>A (p.Thr1013=) rs863224803
NM_032043.3(BRIP1):c.3039T>C (p.Thr1013=) rs863224803
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs) rs2144090521
NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)
NM_032043.3(BRIP1):c.303C>T (p.Asn101=) rs1425170841
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
NM_032043.3(BRIP1):c.3041G>A (p.Gly1014Asp) rs876659757
NM_032043.3(BRIP1):c.3041G>C (p.Gly1014Ala) rs876659757
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg) rs1006002613
NM_032043.3(BRIP1):c.3047T>G (p.Ile1016Arg) rs2061322186
NM_032043.3(BRIP1):c.3048A>G (p.Ile1016Met)
NM_032043.3(BRIP1):c.3053A>G (p.Lys1018Arg) rs2061321875
NM_032043.3(BRIP1):c.3053del (p.Lys1018fs) rs2144090014
NM_032043.3(BRIP1):c.3054G>A (p.Lys1018=)
NM_032043.3(BRIP1):c.3055G>A (p.Ala1019Thr) rs1603275556
NM_032043.3(BRIP1):c.3056C>T (p.Ala1019Val) rs1555572884
NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg) rs1484234707
NM_032043.3(BRIP1):c.305A>T (p.Gln102Leu)
NM_032043.3(BRIP1):c.3061C>T (p.Pro1021Ser) rs1555572880
NM_032043.3(BRIP1):c.3063T>C (p.Pro1021=) rs2061321607
NM_032043.3(BRIP1):c.3064G>C (p.Glu1022Gln) rs587782808
NM_032043.3(BRIP1):c.3065A>T (p.Glu1022Val) rs2144089594
NM_032043.3(BRIP1):c.3068T>C (p.Leu1023Pro) rs747345595
NM_032043.3(BRIP1):c.3069C>G (p.Leu1023=) rs61754142
NM_032043.3(BRIP1):c.306A>G (p.Gln102=)
NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg) rs147119272
NM_032043.3(BRIP1):c.3072G>A (p.Gly1024=) rs778500245
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter) rs1603275526
NM_032043.3(BRIP1):c.3075A>C (p.Ser1025=) rs1060504319
NM_032043.3(BRIP1):c.3075A>G (p.Ser1025=) rs1060504319
NM_032043.3(BRIP1):c.3076T>C (p.Ser1026Pro) rs756712872
NM_032043.3(BRIP1):c.3078A>G (p.Ser1026=) rs786201657
NM_032043.3(BRIP1):c.307G>A (p.Gly103Arg) rs777068696
NM_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala) rs863224804
NM_032043.3(BRIP1):c.3081G>A (p.Glu1027=) rs777660106
NM_032043.3(BRIP1):c.3082A>G (p.Asn1028Asp)
NM_032043.3(BRIP1):c.3083A>C (p.Asn1028Thr) rs1060501762
NM_032043.3(BRIP1):c.3083A>G (p.Asn1028Ser) rs1060501762
NM_032043.3(BRIP1):c.3084T>C (p.Asn1028=) rs1424179519
NM_032043.3(BRIP1):c.3084T>G (p.Asn1028Lys) rs1424179519
NM_032043.3(BRIP1):c.3086G>A (p.Ser1029Asn)
NM_032043.3(BRIP1):c.3087T>C (p.Ser1029=) rs1555572848
NM_032043.3(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup) rs1187782159
NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val) rs767255426
NM_032043.3(BRIP1):c.308del (p.Gly103fs) rs1555617834
NM_032043.3(BRIP1):c.3095G>A (p.Ser1032Asn)
NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser) rs876659119
NM_032043.3(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.3(BRIP1):c.3100C>A (p.Pro1034Thr) rs765416041
NM_032043.3(BRIP1):c.3102C>T (p.Pro1034=) rs2144088075
NM_032043.3(BRIP1):c.3104G>C (p.Arg1035Pro) rs367816363
NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala) rs2145828204
NM_032043.3(BRIP1):c.3112A>G (p.Thr1038Ala) rs2061319595
NM_032043.3(BRIP1):c.3113C>G (p.Thr1038Arg)
NM_032043.3(BRIP1):c.3113C>T (p.Thr1038Ile) rs2061319540
NM_032043.3(BRIP1):c.3116A>G (p.Glu1039Gly)
NM_032043.3(BRIP1):c.3117G>A (p.Glu1039=) rs769310105
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
NM_032043.3(BRIP1):c.3118A>C (p.Lys1040Gln) rs876659428
NM_032043.3(BRIP1):c.3118A>G (p.Lys1040Glu) rs876659428
NM_032043.3(BRIP1):c.3120G>A (p.Lys1040=) rs2144087482
NM_032043.3(BRIP1):c.3121A>G (p.Met1041Val) rs1555572831
NM_032043.3(BRIP1):c.3124G>A (p.Glu1042Lys)
NM_032043.3(BRIP1):c.3125A>G (p.Glu1042Gly) rs1555572828
NM_032043.3(BRIP1):c.3126A>G (p.Glu1042=) rs2061319012
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs) rs2061318961
NM_032043.3(BRIP1):c.3128G>A (p.Ser1043Asn) rs1555572825
NM_032043.3(BRIP1):c.312T>C (p.Thr104=)
NM_032043.3(BRIP1):c.3134C>G (p.Thr1045Ser)
NM_032043.3(BRIP1):c.3135T>C (p.Thr1045=)
NM_032043.3(BRIP1):c.3136G>A (p.Val1046Ile) rs1555572824
NM_032043.3(BRIP1):c.3136G>C (p.Val1046Leu) rs1555572824
NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)
NM_032043.3(BRIP1):c.3141G>A (p.Leu1047=)
NM_032043.3(BRIP1):c.3143C>T (p.Pro1048Leu) rs896510433
NM_032043.3(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.3(BRIP1):c.3148A>G (p.Thr1050Ala) rs1567728933
NM_032043.3(BRIP1):c.3149C>G (p.Thr1050Ser)
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
NM_032043.3(BRIP1):c.3150T>G (p.Thr1050=) rs1603275447
NM_032043.3(BRIP1):c.3155A>G (p.Lys1052Arg)
NM_032043.3(BRIP1):c.3157T>C (p.Cys1053Arg) rs2061318138
NM_032043.3(BRIP1):c.315A>C (p.Ser105=)
NM_032043.3(BRIP1):c.315A>T (p.Ser105=) rs1555617827
NM_032043.3(BRIP1):c.3162A>G (p.Glu1054=) rs2144086078
NM_032043.3(BRIP1):c.3163T>A (p.Ser1055Thr) rs2144086036
NM_032043.3(BRIP1):c.3163T>C (p.Ser1055Pro)
NM_032043.3(BRIP1):c.3164C>A (p.Ser1055Tyr)
NM_032043.3(BRIP1):c.3165C>G (p.Ser1055=) rs1447544706
NM_032043.3(BRIP1):c.3165C>T (p.Ser1055=) rs1447544706
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter) rs1603275438
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
NM_032043.3(BRIP1):c.3169A>G (p.Asn1057Asp) rs2144085839
NM_032043.3(BRIP1):c.316C>A (p.Arg106Ser) rs587780247
NM_032043.3(BRIP1):c.3171T>G (p.Asn1057Lys) rs2061317850
NM_032043.3(BRIP1):c.3172C>G (p.Leu1058Val) rs2061317781
NM_032043.3(BRIP1):c.3173T>G (p.Leu1058Arg) rs2144085714
NM_032043.3(BRIP1):c.3174G>C (p.Leu1058=) rs1555572806
NM_032043.3(BRIP1):c.3174G>T (p.Leu1058=)
NM_032043.3(BRIP1):c.3176C>G (p.Thr1059Arg) rs1400975728
NM_032043.3(BRIP1):c.3181A>C (p.Asn1061His) rs778430337
NM_032043.3(BRIP1):c.3181A>G (p.Asn1061Asp) rs778430337
NM_032043.3(BRIP1):c.3183C>T (p.Asn1061=) rs1555572792
NM_032043.3(BRIP1):c.3185C>T (p.Thr1062Ile) rs770517912
NM_032043.3(BRIP1):c.3186A>G (p.Thr1062=)
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
NM_032043.3(BRIP1):c.3189G>A (p.Ser1063=) rs878855152
NM_032043.3(BRIP1):c.318T>A (p.Arg106=) rs772283705
NM_032043.3(BRIP1):c.318T>C (p.Arg106=) rs772283705
NM_032043.3(BRIP1):c.3192T>G (p.Phe1064Leu) rs2144084979
NM_032043.3(BRIP1):c.3196T>A (p.Ser1066Thr) rs1199327421
NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro) rs1199327421
NM_032043.3(BRIP1):c.3199T>C (p.Cys1067Arg) rs878855153
NM_032043.3(BRIP1):c.319C>T (p.His107Tyr) rs2078907400
NM_032043.3(BRIP1):c.3200G>T (p.Cys1067Phe) rs2144084686
NM_032043.3(BRIP1):c.3201C>T (p.Cys1067=) rs1477019492
NM_032043.3(BRIP1):c.3203C>G (p.Pro1068Arg)
NM_032043.3(BRIP1):c.3203C>T (p.Pro1068Leu) rs2061316462
NM_032043.3(BRIP1):c.3204T>C (p.Pro1068=) rs2144084552
NM_032043.3(BRIP1):c.3205C>G (p.Gln1069Glu) rs2061316417
NM_032043.3(BRIP1):c.3207A>G (p.Gln1069=) rs1555572778
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.3(BRIP1):c.320A>C (p.His107Pro) rs876659809
NM_032043.3(BRIP1):c.3210A>C (p.Ser1070=) rs1555572773
NM_032043.3(BRIP1):c.3214A>G (p.Thr1072Ala) rs756074244
NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn) rs786204068
NM_032043.3(BRIP1):c.3216C>T (p.Thr1072=)
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs) rs1603366250
NM_032043.3(BRIP1):c.3221T>C (p.Ile1074Thr) rs1219988835
NM_032043.3(BRIP1):c.3223T>A (p.Ser1075Thr) rs368867532
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
NM_032043.3(BRIP1):c.3225A>G (p.Ser1075=) rs1291039468
NM_032043.3(BRIP1):c.3225A>T (p.Ser1075=) rs1291039468
NM_032043.3(BRIP1):c.3227C>T (p.Ser1076Leu) rs864622113
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter) rs786202927
NM_032043.3(BRIP1):c.3233A>C (p.Lys1078Thr) rs1603275371
NM_032043.3(BRIP1):c.3234G>T (p.Lys1078Asn) rs570238270
NM_032043.3(BRIP1):c.3238G>C (p.Asp1080His) rs786204230
NM_032043.3(BRIP1):c.3238G>T (p.Asp1080Tyr) rs786204230
NM_032043.3(BRIP1):c.3240T>C (p.Asp1080=) rs1603275354
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3241G>A (p.Ala1081Thr) rs1567728640
NM_032043.3(BRIP1):c.3242C>T (p.Ala1081Val) rs1555572749
NM_032043.3(BRIP1):c.3245C>A (p.Thr1082Asn) rs1603275338
NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser) rs1603275338
NM_032043.3(BRIP1):c.3246C>A (p.Thr1082=)
NM_032043.3(BRIP1):c.3246C>T (p.Thr1082=) rs2144083106
NM_032043.3(BRIP1):c.324C>G (p.Phe108Leu)
NM_032043.3(BRIP1):c.3251C>G (p.Thr1084Ser) rs876660768
NM_032043.3(BRIP1):c.3253_3254delinsGT (p.Arg1085Val) rs2061314506
NM_032043.3(BRIP1):c.3254G>C (p.Arg1085Thr) rs1567728589
NM_032043.3(BRIP1):c.3256A>G (p.Lys1086Glu)
NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp) rs2078907245
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys) rs1567728557
NM_032043.3(BRIP1):c.3263A>G (p.His1088Arg) rs2061314121
NM_032043.3(BRIP1):c.3265T>G (p.Ser1089Ala) rs764205156
NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys) rs761278503
NM_032043.3(BRIP1):c.3266C>T (p.Ser1089Phe) rs761278503
NM_032043.3(BRIP1):c.3267T>C (p.Ser1089=) rs876658543
NM_032043.3(BRIP1):c.3267T>G (p.Ser1089=) rs876658543
NM_032043.3(BRIP1):c.3270A>G (p.Glu1090=) rs1358278249
NM_032043.3(BRIP1):c.3271C>T (p.His1091Tyr) rs1555572732
NM_032043.3(BRIP1):c.3274C>A (p.Pro1092Thr) rs768065626
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.3(BRIP1):c.3275C>G (p.Pro1092Arg) rs587780830
NM_032043.3(BRIP1):c.3276G>C (p.Pro1092=) rs375911315
NM_032043.3(BRIP1):c.3276G>T (p.Pro1092=) rs375911315
NM_032043.3(BRIP1):c.3277C>G (p.Leu1093Val) rs876660638
NM_032043.3(BRIP1):c.3277C>T (p.Leu1093Phe) rs876660638
NM_032043.3(BRIP1):c.3279C>G (p.Leu1093=) rs1555572722
NM_032043.3(BRIP1):c.3279C>T (p.Leu1093=)
NM_032043.3(BRIP1):c.327C>T (p.Asn109=)
NM_032043.3(BRIP1):c.3283T>C (p.Ser1095Pro) rs2061313248
NM_032043.3(BRIP1):c.3284C>T (p.Ser1095Phe) rs1479296707
NM_032043.3(BRIP1):c.3285T>C (p.Ser1095=) rs774105218
NM_032043.3(BRIP1):c.3287AAG[3] (p.Glu1097dup) rs1603275271
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter) rs770509300
NM_032043.3(BRIP1):c.328T>C (p.Tyr110His) rs1555617821
NM_032043.3(BRIP1):c.3290A>G (p.Glu1097Gly) rs876658746
NM_032043.3(BRIP1):c.3292G>T (p.Ala1098Ser) rs1034545913
NM_032043.3(BRIP1):c.3293C>A (p.Ala1098Asp) rs1361161166
NM_032043.3(BRIP1):c.3293C>T (p.Ala1098Val)
NM_032043.3(BRIP1):c.3294C>T (p.Ala1098=) rs748928248
NM_032043.3(BRIP1):c.3295C>T (p.Leu1099=)
NM_032043.3(BRIP1):c.3298G>C (p.Asp1100His) rs587781923
NM_032043.3(BRIP1):c.3298G>T (p.Asp1100Tyr) rs587781923
NM_032043.3(BRIP1):c.3299A>T (p.Asp1100Val) rs864622072
NM_032043.3(BRIP1):c.3301C>T (p.Pro1101Ser)
NM_032043.3(BRIP1):c.3302C>T (p.Pro1101Leu) rs2061312470
NM_032043.3(BRIP1):c.3305A>G (p.Asp1102Gly) rs748140041
NM_032043.3(BRIP1):c.3307A>G (p.Ile1103Val) rs1555572700
NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.3(BRIP1):c.3311A>T (p.Glu1104Val) rs1567728360
NM_032043.3(BRIP1):c.3312A>G (p.Glu1104=) rs1555572697
NM_032043.3(BRIP1):c.3312A>T (p.Glu1104Asp) rs1555572697
NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe) rs1603275236
NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)
NM_032043.3(BRIP1):c.3321A>G (p.Leu1107=) rs1603275229
NM_032043.3(BRIP1):c.3322G>A (p.Val1108Ile) rs1275343223
NM_032043.3(BRIP1):c.3323T>G (p.Val1108Gly)
NM_032043.3(BRIP1):c.3324A>T (p.Val1108=)
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
NM_032043.3(BRIP1):c.3328G>A (p.Glu1110Lys) rs1060501774
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.3(BRIP1):c.3329A>G (p.Glu1110Gly) rs1060501742
NM_032043.3(BRIP1):c.332C>T (p.Pro111Leu) rs201790351
NM_032043.3(BRIP1):c.3330A>G (p.Glu1110=) rs2061311198
NM_032043.3(BRIP1):c.3331G>A (p.Glu1111Lys) rs587780248
NM_032043.3(BRIP1):c.3332A>T (p.Glu1111Val) rs2061311057
NM_032043.3(BRIP1):c.3334G>A (p.Asp1112Asn) rs968860042
NM_032043.3(BRIP1):c.3336T>A (p.Asp1112Glu) rs369843642
NM_032043.3(BRIP1):c.3337A>C (p.Lys1113Gln)
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu) rs2061310712
NM_032043.3(BRIP1):c.333A>C (p.Pro111=)
NM_032043.3(BRIP1):c.3340C>G (p.Gln1114Glu)
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter) rs1555572681
NM_032043.3(BRIP1):c.3341A>C (p.Gln1114Pro)
NM_032043.3(BRIP1):c.3342G>C (p.Gln1114His) rs2144079516
NM_032043.3(BRIP1):c.3343T>A (p.Ser1115Thr)
NM_032043.3(BRIP1):c.3343T>C (p.Ser1115Pro) rs1567728281
NM_032043.3(BRIP1):c.3344C>A (p.Ser1115Tyr) rs1419933310
NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys) rs1419933310
NM_032043.3(BRIP1):c.3344C>T (p.Ser1115Phe) rs1419933310
NM_032043.3(BRIP1):c.3345C>A (p.Ser1115=) rs2144079396
NM_032043.3(BRIP1):c.3345C>T (p.Ser1115=) rs2144079396
NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)
NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu) rs1555572672
NM_032043.3(BRIP1):c.3351A>G (p.Ser1117=) rs2144079200
NM_032043.3(BRIP1):c.3352A>G (p.Asn1118Asp) rs2061310251
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser) rs1060501773
NM_032043.3(BRIP1):c.3356G>C (p.Arg1119Thr)
NM_032043.3(BRIP1):c.3357A>G (p.Arg1119=)
NM_032043.3(BRIP1):c.3358G>A (p.Asp1120Asn) rs1555572663
NM_032043.3(BRIP1):c.3358G>C (p.Asp1120His)
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs) rs1603275179
NM_032043.3(BRIP1):c.335G>A (p.Ser112Asn) rs1555617813
NM_032043.3(BRIP1):c.3360T>C (p.Asp1120=) rs876660747
NM_032043.3(BRIP1):c.3364G>C (p.Glu1122Gln)
NM_032043.3(BRIP1):c.3365A>G (p.Glu1122Gly) rs2144078743
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala) rs754056526
NM_032043.3(BRIP1):c.3368C>G (p.Thr1123Arg)
NM_032043.3(BRIP1):c.336C>T (p.Ser112=) rs1603366251
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly) rs1064793894
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) rs745344948
NM_032043.3(BRIP1):c.3378A>G (p.Glu1126=) rs145855459
NM_032043.3(BRIP1):c.3378A>T (p.Glu1126Asp) rs145855459
NM_032043.3(BRIP1):c.3379G>C (p.Asp1127His) rs2144078261
NM_032043.3(BRIP1):c.337A>C (p.Thr113Pro) rs1555617812
NM_032043.3(BRIP1):c.3382G>A (p.Glu1128Lys) rs45552539
NM_032043.3(BRIP1):c.3382G>C (p.Glu1128Gln) rs45552539
NM_032043.3(BRIP1):c.3384A>G (p.Glu1128=) rs868546317
NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs) rs2144077998
NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs) rs2061309076
NM_032043.3(BRIP1):c.3388A>T (p.Ile1130Phe) rs786202549
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr) rs1057522432
NM_032043.3(BRIP1):c.3390C>G (p.Ile1130Met) rs2061308845
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3392A>G (p.Tyr1131Cys) rs1567728145
NM_032043.3(BRIP1):c.3393T>C (p.Tyr1131=)
NM_032043.3(BRIP1):c.3396T>C (p.Phe1132=) rs876659137
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
NM_032043.3(BRIP1):c.3397A>T (p.Thr1133Ser)
NM_032043.3(BRIP1):c.3398C>T (p.Thr1133Ile) rs1555572645
NM_032043.3(BRIP1):c.339A>C (p.Thr113=) rs2078906632
NM_032043.3(BRIP1):c.339A>G (p.Thr113=) rs2078906632
NM_032043.3(BRIP1):c.33T>C (p.Gly11=) rs759187663
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.3402T>G (p.Pro1134=) rs2061308538
NM_032043.3(BRIP1):c.3404A>G (p.Glu1135Gly) rs1235908208
NM_032043.3(BRIP1):c.3404_3405insCAG (p.Glu1135delinsAspArg) rs1603275121
NM_032043.3(BRIP1):c.3405A>G (p.Glu1135=) rs2144077304
NM_032043.3(BRIP1):c.3406C>T (p.Leu1136Phe) rs1555572626
NM_032043.3(BRIP1):c.3407T>G (p.Leu1136Arg) rs2061308258
NM_032043.3(BRIP1):c.3409T>C (p.Tyr1137His) rs2061308195
NM_032043.3(BRIP1):c.340C>T (p.Pro114Ser) rs2145827137
NM_032043.3(BRIP1):c.3410_3411delinsGC (p.Tyr1137Cys)
NM_032043.3(BRIP1):c.3411_3412delinsCC (p.Asp1138His) rs1555572620
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr) rs1555572620
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer) rs876660100
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) rs1057518847
NM_032043.3(BRIP1):c.3415C>T (p.Pro1139Ser) rs1186451404
NM_032043.3(BRIP1):c.3416C>T (p.Pro1139Leu) rs1555572613
NM_032043.3(BRIP1):c.341C>A (p.Pro114Gln) rs876658965
NM_032043.3(BRIP1):c.341C>T (p.Pro114Leu) rs876658965
NM_032043.3(BRIP1):c.3420dup (p.Asp1141fs)
NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala) rs1034551306
NM_032043.3(BRIP1):c.3422A>T (p.Asp1141Val) rs1034551306
NM_032043.3(BRIP1):c.3423T>C (p.Asp1141=) rs2144076602
NM_032043.3(BRIP1):c.3425C>G (p.Thr1142Arg) rs1279318199
NM_032043.3(BRIP1):c.3426A>G (p.Thr1142=)
NM_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn) rs1217932471
NM_032043.3(BRIP1):c.3428A>G (p.Asp1143Gly) rs2061307264
NM_032043.3(BRIP1):c.3429T>C (p.Asp1143=) rs1315917374
NM_032043.3(BRIP1):c.3429T>G (p.Asp1143Glu) rs1315917374
NM_032043.3(BRIP1):c.342A>G (p.Pro114=) rs756764576
NM_032043.3(BRIP1):c.3430G>A (p.Glu1144Lys)
NM_032043.3(BRIP1):c.3430G>C (p.Glu1144Gln)
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly) rs774605759
NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu) rs786202247
NM_032043.3(BRIP1):c.3437A>G (p.Lys1146Arg) rs1567727955
NM_032043.3(BRIP1):c.3437A>T (p.Lys1146Ile) rs1567727955
NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp) rs1258403817
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser) rs876659142
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.3(BRIP1):c.3441T>C (p.Asn1147=)
NM_032043.3(BRIP1):c.3443A>G (p.Asp1148Gly) rs2061306531
NM_032043.3(BRIP1):c.3444C>T (p.Asp1148=) rs28997573
NM_032043.3(BRIP1):c.3449C>G (p.Ala1150Gly) rs1064796059
NM_032043.3(BRIP1):c.3449C>T (p.Ala1150Val)
NM_032043.3(BRIP1):c.344C>A (p.Pro115His) rs1555617800
NM_032043.3(BRIP1):c.344C>T (p.Pro115Leu) rs1555617800
NM_032043.3(BRIP1):c.3451G>A (p.Glu1151Lys) rs1555572587
NM_032043.3(BRIP1):c.3455_3467del (p.Thr1152fs)
NM_032043.3(BRIP1):c.3458A>G (p.Asp1153Gly) rs1603275027
NM_032043.3(BRIP1):c.3461G>A (p.Arg1154Lys)
NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr) rs1057522433
NM_032043.3(BRIP1):c.3466A>G (p.Asn1156Asp)
NM_032043.3(BRIP1):c.3467A>G (p.Asn1156Ser) rs1603275008
NM_032043.3(BRIP1):c.3472T>A (p.Leu1158Met) rs1060504330
NM_032043.3(BRIP1):c.3472T>C (p.Leu1158=) rs1060504330
NM_032043.3(BRIP1):c.3473T>G (p.Leu1158Trp) rs876659655
NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr) rs368610199
NM_032043.3(BRIP1):c.3475G>C (p.Ala1159Pro) rs368610199
NM_032043.3(BRIP1):c.3475G>T (p.Ala1159Ser) rs368610199
NM_032043.3(BRIP1):c.3478A>G (p.Asn1160Asp) rs2061305104
NM_032043.3(BRIP1):c.347C>T (p.Ser116Phe) rs748793974
NM_032043.3(BRIP1):c.3480C>T (p.Asn1160=) rs746898528
NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup) rs2061304922
NM_032043.3(BRIP1):c.3488A>G (p.Asp1163Gly) rs2061304985
NM_032043.3(BRIP1):c.3489_3490delinsCG (p.Cys1164Gly) rs2061304770
NM_032043.3(BRIP1):c.3493A>T (p.Ile1165Phe) rs771889454
NM_032043.3(BRIP1):c.3496T>G (p.Leu1166Val) rs2144073872
NM_032043.3(BRIP1):c.3497T>C (p.Leu1166Ser) rs2061304526
NM_032043.3(BRIP1):c.3498A>G (p.Leu1166=) rs1196759903
NM_032043.3(BRIP1):c.3499G>C (p.Ala1167Pro) rs1555572570
NM_032043.3(BRIP1):c.34G>A (p.Gly12Arg)
NM_032043.3(BRIP1):c.3503A>C (p.Lys1168Thr) rs749589266
NM_032043.3(BRIP1):c.3504A>G (p.Lys1168=) rs1259866317
NM_032043.3(BRIP1):c.3504del (p.Asp1169fs)
NM_032043.3(BRIP1):c.3506A>C (p.Asp1169Ala) rs2061304201
NM_032043.3(BRIP1):c.3507C>G (p.Asp1169Glu) rs375741316
NM_032043.3(BRIP1):c.3507C>T (p.Asp1169=)
NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val) rs587782552
NM_032043.3(BRIP1):c.3508del (p.Leu1170fs) rs2144073489
NM_032043.3(BRIP1):c.3509T>A (p.Leu1170His)
NM_032043.3(BRIP1):c.3512T>C (p.Phe1171Ser) rs878855155
NM_032043.3(BRIP1):c.3513del (p.Phe1171fs)
NM_032043.3(BRIP1):c.3517A>C (p.Ile1173Leu) rs2061303840
NM_032043.3(BRIP1):c.3520A>G (p.Arg1174Gly) rs2144073209
NM_032043.3(BRIP1):c.3521G>A (p.Arg1174Lys)
NM_032043.3(BRIP1):c.3522A>G (p.Arg1174=) rs2144073145
NM_032043.3(BRIP1):c.3526A>G (p.Ile1176Val) rs2061303537
NM_032043.3(BRIP1):c.3528A>C (p.Ile1176=)
NM_032043.3(BRIP1):c.3528A>G (p.Ile1176Met)
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
NM_032043.3(BRIP1):c.3530A>G (p.Lys1177Arg)
NM_032043.3(BRIP1):c.3530AAG[1] (p.Glu1178del) rs1567727749
NM_032043.3(BRIP1):c.3531A>G (p.Lys1177=) rs181186298
NM_032043.3(BRIP1):c.3532G>A (p.Glu1178Lys) rs876661115
NM_032043.3(BRIP1):c.3532G>C (p.Glu1178Gln) rs876661115
NM_032043.3(BRIP1):c.3533A>G (p.Glu1178Gly)
NM_032043.3(BRIP1):c.3535G>A (p.Val1179Ile)
NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)
NM_032043.3(BRIP1):c.3536_3538del (p.Val1179del) rs1603274921
NM_032043.3(BRIP1):c.3537A>C (p.Val1179=)
NM_032043.3(BRIP1):c.3538G>C (p.Asp1180His) rs2061303001
NM_032043.3(BRIP1):c.3543A>G (p.Ser1181=) rs1060504328
NM_032043.3(BRIP1):c.3544G>A (p.Ala1182Thr) rs1555572535
NM_032043.3(BRIP1):c.3546C>A (p.Ala1182=) rs755440956
NM_032043.3(BRIP1):c.3551A>G (p.Glu1184Gly)
NM_032043.3(BRIP1):c.3552A>G (p.Glu1184=) rs1057522561
NM_032043.3(BRIP1):c.3553G>C (p.Val1185Leu) rs1567727691
NM_032043.3(BRIP1):c.3553G>T (p.Val1185Leu) rs1567727691
NM_032043.3(BRIP1):c.3555G>A (p.Val1185=)
NM_032043.3(BRIP1):c.3557A>G (p.Lys1186Arg)
NM_032043.3(BRIP1):c.3558A>G (p.Lys1186=) rs1555572529
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs) rs2145826463
NM_032043.3(BRIP1):c.3560C>T (p.Ala1187Val) rs1603274878
NM_032043.3(BRIP1):c.3561T>G (p.Ala1187=) rs2144071810
NM_032043.3(BRIP1):c.3562G>A (p.Glu1188Lys) rs786201962
NM_032043.3(BRIP1):c.3563A>G (p.Glu1188Gly) rs2061301893
NM_032043.3(BRIP1):c.3564G>A (p.Glu1188=)
NM_032043.3(BRIP1):c.3565G>A (p.Asp1189Asn)
NM_032043.3(BRIP1):c.3569G>C (p.Cys1190Ser) rs2061301683
NM_032043.3(BRIP1):c.3569_3570delinsCT (p.Cys1190Ser)
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser) rs889877039
NM_032043.3(BRIP1):c.356del (p.Asn119fs) rs2145826750
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr) rs2061301543
NM_032043.3(BRIP1):c.3575A>G (p.Asp1192Gly)
NM_032043.3(BRIP1):c.3578C>A (p.Thr1193Lys) rs1368343911
NM_032043.3(BRIP1):c.3578C>G (p.Thr1193Arg) rs1368343911
NM_032043.3(BRIP1):c.3579A>G (p.Thr1193=) rs1060504331
NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys) rs786202477
NM_032043.3(BRIP1):c.3581A>T (p.Lys1194Met) rs2144071092
NM_032043.3(BRIP1):c.3584_3586delinsGG (p.Leu1195fs) rs1555572519
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=) rs2061301182
NM_032043.3(BRIP1):c.3588T>C (p.Asn1196=) rs1555572517
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs) rs1567874485
NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu) rs587781677
NM_032043.3(BRIP1):c.3592A>T (p.Ile1198Phe) rs2061300867
NM_032043.3(BRIP1):c.3594T>G (p.Ile1198Met) rs1603274842
NM_032043.3(BRIP1):c.3595C>G (p.Leu1199Val) rs876659839
NM_032043.3(BRIP1):c.3595C>T (p.Leu1199=) rs876659839
NM_032043.3(BRIP1):c.3597_3598delinsCA (p.His1200Asn)
NM_032043.3(BRIP1):c.3599A>G (p.His1200Arg) rs730881628
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp) rs730881637
NM_032043.3(BRIP1):c.359G>T (p.Gly120Val)
NM_032043.3(BRIP1):c.35G>C (p.Gly12Ala) rs1555618733
NM_032043.3(BRIP1):c.3600T>C (p.His1200=)
NM_032043.3(BRIP1):c.3601A>G (p.Ile1201Val)
NM_032043.3(BRIP1):c.3602T>C (p.Ile1201Thr) rs2061300384
NM_032043.3(BRIP1):c.3603T>C (p.Ile1201=) rs1239998940
NM_032043.3(BRIP1):c.3605A>C (p.Glu1202Ala) rs776010326
NM_032043.3(BRIP1):c.3607del (p.Glu1203fs) rs2144070111
NM_032043.3(BRIP1):c.3608A>G (p.Glu1203Gly) rs1403310555
NM_032043.3(BRIP1):c.360C>T (p.Gly120=) rs1060501730
NM_032043.3(BRIP1):c.3613A>G (p.Lys1205Glu)
NM_032043.3(BRIP1):c.3615A>C (p.Lys1205Asn) rs768156067
NM_032043.3(BRIP1):c.3616A>G (p.Ile1206Val)
NM_032043.3(BRIP1):c.3617T>C (p.Ile1206Thr)
NM_032043.3(BRIP1):c.3618T>C (p.Ile1206=)
NM_032043.3(BRIP1):c.3618T>G (p.Ile1206Met) rs2061299577
NM_032043.3(BRIP1):c.3619G>A (p.Asp1207Asn)
NM_032043.3(BRIP1):c.3622G>A (p.Asp1208Asn) rs760589795
NM_032043.3(BRIP1):c.3622G>C (p.Asp1208His) rs760589795
NM_032043.3(BRIP1):c.3624C>T (p.Asp1208=) rs2144069601
NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val) rs1603274780
NM_032043.3(BRIP1):c.3627T>A (p.Ile1209=) rs548674096
NM_032043.3(BRIP1):c.3629A>G (p.Asp1210Gly) rs112214651
NM_032043.3(BRIP1):c.3629_3631del (p.Asp1210del) rs1064794200
NM_032043.3(BRIP1):c.362C>T (p.Thr121Ile) rs777630298
NM_032043.3(BRIP1):c.3630T>C (p.Asp1210=) rs2144069414
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser) rs1567727439
NM_032043.3(BRIP1):c.3632del (p.Gly1211fs) rs2144069324
NM_032043.3(BRIP1):c.3634A>G (p.Asn1212Asp) rs2144069259
NM_032043.3(BRIP1):c.3637G>A (p.Val1213Ile)
NM_032043.3(BRIP1):c.3639A>G (p.Val1213=) rs2144069102
NM_032043.3(BRIP1):c.363T>A (p.Thr121=) rs876660306
NM_032043.3(BRIP1):c.363T>C (p.Thr121=) rs876660306
NM_032043.3(BRIP1):c.3641A>C (p.Lys1214Thr)
NM_032043.3(BRIP1):c.3642A>C (p.Lys1214Asn) rs2061298986
NM_032043.3(BRIP1):c.3647C>T (p.Thr1216Ile) rs1567727417
NM_032043.3(BRIP1):c.364T>G (p.Ser122Ala) rs1555617788
NM_032043.3(BRIP1):c.3650G>T (p.Trp1217Leu)
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.3655A>C (p.Asn1219His) rs1567727404
NM_032043.3(BRIP1):c.3656del (p.Asn1219fs) rs2061298543
NM_032043.3(BRIP1):c.3658G>A (p.Glu1220Lys) rs1555572476
NM_032043.3(BRIP1):c.3658G>T (p.Glu1220Ter) rs1555572476
NM_032043.3(BRIP1):c.3659A>G (p.Glu1220Gly) rs2061298409
NM_032043.3(BRIP1):c.3660A>C (p.Glu1220Asp)
NM_032043.3(BRIP1):c.3660A>G (p.Glu1220=) rs2144068349
NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val) rs2061298344
NM_032043.3(BRIP1):c.3661C>T (p.Leu1221=) rs2061298344
NM_032043.3(BRIP1):c.3662T>G (p.Leu1221Arg) rs778805688
NM_032043.3(BRIP1):c.3664G>C (p.Glu1222Gln) rs2144068196
NM_032043.3(BRIP1):c.3664dup (p.Glu1222fs) rs752586524
NM_032043.3(BRIP1):c.3665A>T (p.Glu1222Val) rs770175142
NM_032043.3(BRIP1):c.3667C>T (p.Leu1223=) rs748310432
NM_032043.3(BRIP1):c.3667_3673del (p.Leu1223fs) rs2061297923
NM_032043.3(BRIP1):c.3669G>A (p.Leu1223=) rs1567727357
NM_032043.3(BRIP1):c.366A>G (p.Ser122=) rs1603366194
NM_032043.3(BRIP1):c.366A>T (p.Ser122=) rs1603366194
NM_032043.3(BRIP1):c.3671G>A (p.Gly1224Glu)
NM_032043.3(BRIP1):c.3674A>C (p.Lys1225Thr) rs2144067914
NM_032043.3(BRIP1):c.3675A>G (p.Lys1225=)
NM_032043.3(BRIP1):c.3676del (p.Thr1226fs) rs2144067889
NM_032043.3(BRIP1):c.3679C>G (p.His1227Asp) rs2061297833
NM_032043.3(BRIP1):c.3680A>G (p.His1227Arg) rs755069935
NM_032043.3(BRIP1):c.3680A>T (p.His1227Leu)
NM_032043.3(BRIP1):c.3682G>A (p.Glu1228Lys)
NM_032043.3(BRIP1):c.3685A>C (p.Ile1229Leu)
NM_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr) rs1157058742
NM_032043.3(BRIP1):c.3690A>G (p.Glu1230=)
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.3(BRIP1):c.3692T>C (p.Ile1231Thr) rs780578438
NM_032043.3(BRIP1):c.3692T>G (p.Ile1231Arg) rs780578438
NM_032043.3(BRIP1):c.3694A>G (p.Lys1232Glu)
NM_032043.3(BRIP1):c.3695A>G (p.Lys1232Arg) rs1555572446
NM_032043.3(BRIP1):c.3696G>A (p.Lys1232=) rs2061297235
NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)
NM_032043.3(BRIP1):c.3699C>T (p.Asn1233=)
NM_032043.3(BRIP1):c.36G>C (p.Gly12=) rs45566938
NM_032043.3(BRIP1):c.3700T>C (p.Phe1234Leu) rs878855156
NM_032043.3(BRIP1):c.3701T>C (p.Phe1234Ser)
NM_032043.3(BRIP1):c.3701T>G (p.Phe1234Cys) rs587778137
NM_032043.3(BRIP1):c.3702T>C (p.Phe1234=)
NM_032043.3(BRIP1):c.3702T>G (p.Phe1234Leu) rs2061296981
NM_032043.3(BRIP1):c.3703A>G (p.Lys1235Glu) rs1567727245
NM_032043.3(BRIP1):c.3705A>G (p.Lys1235=)
NM_032043.3(BRIP1):c.3706C>T (p.Pro1236Ser) rs1060501771
NM_032043.3(BRIP1):c.3707C>T (p.Pro1236Leu) rs1265133595
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro) rs45617634
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr) rs587781819
NM_032043.3(BRIP1):c.3710C>T (p.Ser1237Phe) rs587781819
NM_032043.3(BRIP1):c.3711T>C (p.Ser1237=) rs786203915
NM_032043.3(BRIP1):c.3712C>A (p.Pro1238Thr) rs1192747697
NM_032043.3(BRIP1):c.3712_3714del (p.Pro1238del) rs1603274664
NM_032043.3(BRIP1):c.3715T>C (p.Ser1239Pro) rs587781886
NM_032043.3(BRIP1):c.3717C>A (p.Ser1239=) rs758809865
NM_032043.3(BRIP1):c.3717C>G (p.Ser1239=)
NM_032043.3(BRIP1):c.371C>A (p.Thr124Asn) rs2145826085
NM_032043.3(BRIP1):c.3726_3730dup (p.Met1244fs) rs1491231712
NM_032043.3(BRIP1):c.3728G>A (p.Gly1243Asp) rs765545033
NM_032043.3(BRIP1):c.3728G>C (p.Gly1243Ala)
NM_032043.3(BRIP1):c.3728G>T (p.Gly1243Val) rs765545033
NM_032043.3(BRIP1):c.372T>C (p.Thr124=) rs1555617785
NM_032043.3(BRIP1):c.3730A>C (p.Met1244Leu) rs761468878
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys) rs1260819959
NM_032043.3(BRIP1):c.3731_*5del (p.Met1244fs) rs1555572407
NM_032043.3(BRIP1):c.3732G>A (p.Met1244Ile) rs753516000
NM_032043.3(BRIP1):c.3734T>G (p.Phe1245Cys)
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu) rs876660074
NM_032043.3(BRIP1):c.3740G>A (p.Gly1247Asp) rs2144065748
NM_032043.3(BRIP1):c.3741T>A (p.Gly1247=) rs1555572413
NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu) rs1567727102
NM_032043.3(BRIP1):c.3744del (p.Phe1248fs) rs2061295225
NM_032043.3(BRIP1):c.3747G>A (p.Lys1249=) rs1264149264
NM_032043.3(BRIP1):c.3747_3750del (p.Lys1249fs) rs1555572410
NM_032043.3(BRIP1):c.374G>C (p.Cys125Ser) rs876660020
NM_032043.3(BRIP1):c.374G>T (p.Cys125Phe) rs876660020
NM_032043.3(BRIP1):c.3750A>G (p.Ter1250=)
NM_032043.3(BRIP1):c.375T>C (p.Cys125=)
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
NM_032043.3(BRIP1):c.378A>G (p.Gln126=) rs2145825894
NM_032043.3(BRIP1):c.379+10A>G
NM_032043.3(BRIP1):c.379+17C>T rs1567874393
NM_032043.3(BRIP1):c.379+19G>C rs2145825488
NM_032043.3(BRIP1):c.379+1G>A rs1437158047
NM_032043.3(BRIP1):c.379+1G>T rs1437158047
NM_032043.3(BRIP1):c.379+2T>C rs2145825816
NM_032043.3(BRIP1):c.379+5T>A rs1603366174
NM_032043.3(BRIP1):c.379+6T>A
NM_032043.3(BRIP1):c.379+7T>C
NM_032043.3(BRIP1):c.379+8A>C rs1057520254
NM_032043.3(BRIP1):c.379+8A>G rs1057520254
NM_032043.3(BRIP1):c.379+9T>C
NM_032043.3(BRIP1):c.37G>A (p.Val13Met) rs1488264110
NM_032043.3(BRIP1):c.37G>T (p.Val13Leu)
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
NM_032043.3(BRIP1):c.380-12T>C rs2145767396
NM_032043.3(BRIP1):c.380-13T>C
NM_032043.3(BRIP1):c.380-14A>G
NM_032043.3(BRIP1):c.380-16A>T rs769150213
NM_032043.3(BRIP1):c.380-17del rs545021924
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_032043.3(BRIP1):c.380-18T>A
NM_032043.3(BRIP1):c.380-1G>C rs2145767071
NM_032043.3(BRIP1):c.380-4T>C rs1416727235
NM_032043.3(BRIP1):c.380-6T>C rs780921390
NM_032043.3(BRIP1):c.383C>T (p.Ser128Phe) rs1603362723
NM_032043.3(BRIP1):c.384C>T (p.Ser128=) rs1555616231
NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser) rs1555616229
NM_032043.3(BRIP1):c.386C>A (p.Pro129His) rs587780831
NM_032043.3(BRIP1):c.386C>G (p.Pro129Arg) rs587780831
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer) rs876660080
NM_032043.3(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys) rs876658860
NM_032043.3(BRIP1):c.392A>G (p.Lys131Arg) rs2078781626
NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn) rs2078781577
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)
NM_032043.3(BRIP1):c.396C>G (p.Thr132=)
NM_032043.3(BRIP1):c.396_398dup (p.Thr133_Leu134insThr)
NM_032043.3(BRIP1):c.397A>G (p.Thr133Ala) rs764256720
NM_032043.3(BRIP1):c.398C>G (p.Thr133Ser)
NM_032043.3(BRIP1):c.39G>A (p.Val13=) rs2078972813
NM_032043.3(BRIP1):c.401T>C (p.Leu134Pro)
NM_032043.3(BRIP1):c.403G>T (p.Ala135Ser)
NM_032043.3(BRIP1):c.404C>G (p.Ala135Gly)
NM_032043.3(BRIP1):c.404C>T (p.Ala135Val) rs1295736478
NM_032043.3(BRIP1):c.407C>A (p.Ala136Glu)
NM_032043.3(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.408A>G (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.408A>T (p.Ala136=)
NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu) rs878855157
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs) rs1057520058
NM_032043.3(BRIP1):c.40A>G (p.Lys14Glu) rs1555618727
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter) rs1555618727
NM_032043.3(BRIP1):c.415T>C (p.Ser139Pro)
NM_032043.3(BRIP1):c.416C>T (p.Ser139Phe) rs1567868653
NM_032043.3(BRIP1):c.418G>A (p.Ala140Thr) rs2078780535
NM_032043.3(BRIP1):c.420T>C (p.Ala140=) rs1555616190
NM_032043.3(BRIP1):c.420T>G (p.Ala140=) rs1555616190
NM_032043.3(BRIP1):c.423G>C (p.Lys141Asn) rs1603362663
NM_032043.3(BRIP1):c.427_428delinsGG (p.Gln143Gly)
NM_032043.3(BRIP1):c.428A>C (p.Gln143Pro) rs1603362656
NM_032043.3(BRIP1):c.428A>G (p.Gln143Arg) rs1603362656
NM_032043.3(BRIP1):c.428A>T (p.Gln143Leu)
NM_032043.3(BRIP1):c.42G>A (p.Lys14=) rs2078972704
NM_032043.3(BRIP1):c.42G>C (p.Lys14Asn) rs2078972704
NM_032043.3(BRIP1):c.42G>T (p.Lys14Asn) rs2078972704
NM_032043.3(BRIP1):c.430G>T (p.Ala144Ser)
NM_032043.3(BRIP1):c.431C>A (p.Ala144Glu) rs1555616182
NM_032043.3(BRIP1):c.432A>G (p.Ala144=)
NM_032043.3(BRIP1):c.432A>T (p.Ala144=) rs1342776835
NM_032043.3(BRIP1):c.435C>T (p.Ser145=)
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val) rs1567868598
NM_032043.3(BRIP1):c.438A>C (p.Ile146=) rs886038702
NM_032043.3(BRIP1):c.438A>G (p.Ile146Met) rs886038702
NM_032043.3(BRIP1):c.438A>T (p.Ile146=) rs886038702
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.3(BRIP1):c.43A>G (p.Ile15Val) rs1567878177
NM_032043.3(BRIP1):c.440del (p.Tyr147fs) rs1555616176
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter) rs1603362622
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter) rs1603362622
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer) rs2078779429
NM_032043.3(BRIP1):c.442A>C (p.Arg148=) rs876658914
NM_032043.3(BRIP1):c.443G>A (p.Arg148Lys) rs1243511600
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs) rs2145763904
NM_032043.3(BRIP1):c.445G>A (p.Asp149Asn)
NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly) rs770613242
NM_032043.3(BRIP1):c.447T>A (p.Asp149Glu)
NM_032043.3(BRIP1):c.447T>C (p.Asp149=)
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter) rs762701532
NM_032043.3(BRIP1):c.452A>G (p.Asn151Ser) rs1555616165
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
NM_032043.3(BRIP1):c.454G>C (p.Asp152His)
NM_032043.3(BRIP1):c.455A>G (p.Asp152Gly) rs2145763474
NM_032043.3(BRIP1):c.459T>C (p.Asp153=) rs1603362599
NM_032043.3(BRIP1):c.460T>A (p.Phe154Ile)
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs) rs1567868477
NM_032043.3(BRIP1):c.462T>C (p.Phe154=) rs1555616156
NM_032043.3(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.3(BRIP1):c.463C>G (p.Gln155Glu) rs587781786
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
NM_032043.3(BRIP1):c.465A>G (p.Gln155=) rs876659453
NM_032043.3(BRIP1):c.466G>T (p.Val156Leu) rs876659373
NM_032043.3(BRIP1):c.467T>C (p.Val156Ala) rs1567868429
NM_032043.3(BRIP1):c.468A>G (p.Val156=) rs876660148
NM_032043.3(BRIP1):c.469G>A (p.Glu157Lys) rs2078778379
NM_032043.3(BRIP1):c.469G>C (p.Glu157Gln) rs2078778379
NM_032043.3(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.3(BRIP1):c.471G>A (p.Glu157=) rs2078778336
NM_032043.3(BRIP1):c.473A>G (p.Lys158Arg) rs769364081
NM_032043.3(BRIP1):c.474del (p.Arg160fs) rs1603362580
NM_032043.3(BRIP1):c.475A>C (p.Lys159Gln) rs2078778116
NM_032043.3(BRIP1):c.475A>G (p.Lys159Glu) rs2078778116
NM_032043.3(BRIP1):c.476A>G (p.Lys159Arg) rs1603362575
NM_032043.3(BRIP1):c.477A>C (p.Lys159Asn) rs2078778020
NM_032043.3(BRIP1):c.477A>G (p.Lys159=)
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.478A>G (p.Arg160Gly)
NM_032043.3(BRIP1):c.478del (p.Arg160fs) rs1555616150
NM_032043.3(BRIP1):c.479G>T (p.Arg160Ile) rs1330277587
NM_032043.3(BRIP1):c.481A>G (p.Ile161Val) rs786203916
NM_032043.3(BRIP1):c.484C>A (p.Arg162=) rs747604569
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln) rs61757643
NM_032043.3(BRIP1):c.485G>C (p.Arg162Pro) rs61757643
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu) rs61757643
NM_032043.3(BRIP1):c.487C>G (p.Pro163Ala) rs1064795902
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser) rs1064795902
NM_032043.3(BRIP1):c.488C>A (p.Pro163His) rs2145761987
NM_032043.3(BRIP1):c.488C>T (p.Pro163Leu) rs2145761987
NM_032043.3(BRIP1):c.489C>G (p.Pro163=)
NM_032043.3(BRIP1):c.48C>T (p.Tyr16=) rs1603368466
NM_032043.3(BRIP1):c.495A>C (p.Glu165Asp) rs780024960
NM_032043.3(BRIP1):c.499A>G (p.Thr167Ala) rs1060501738
NM_032043.3(BRIP1):c.49T>C (p.Phe17Leu) rs1603368465
NM_032043.3(BRIP1):c.500C>A (p.Thr167Lys) rs758218234
NM_032043.3(BRIP1):c.500C>T (p.Thr167Ile) rs758218234
NM_032043.3(BRIP1):c.502C>A (p.Gln168Lys) rs748211848
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
NM_032043.3(BRIP1):c.504G>A (p.Gln168=) rs1064795698
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer) rs2145761401
NM_032043.3(BRIP1):c.506A>C (p.Gln169Pro) rs2078776978
NM_032043.3(BRIP1):c.507+10G>A rs1057523376
NM_032043.3(BRIP1):c.507+15T>C rs2145760774
NM_032043.3(BRIP1):c.507+16T>C
NM_032043.3(BRIP1):c.507+19C>A
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_032043.3(BRIP1):c.507+20A>G rs369270945
NM_032043.3(BRIP1):c.507+2T>A
NM_032043.3(BRIP1):c.507+3A>G
NM_032043.3(BRIP1):c.507+6C>T rs2078776834
NM_032043.3(BRIP1):c.507+7dup rs2145761034
NM_032043.3(BRIP1):c.507+9A>G rs2145760959
NM_032043.3(BRIP1):c.507+9_507+10del rs747185394
NM_032043.3(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.3(BRIP1):c.507G>T (p.Gln169His) rs876660937
NM_032043.3(BRIP1):c.508-10G>A rs2078749443
NM_032043.3(BRIP1):c.508-10G>C rs2078749443
NM_032043.3(BRIP1):c.508-10G>T
NM_032043.3(BRIP1):c.508-12C>T rs2145745562
NM_032043.3(BRIP1):c.508-16G>C rs1423428195
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.508-20T>G
NM_032043.3(BRIP1):c.508-2A>C rs876659707
NM_032043.3(BRIP1):c.508-2A>G rs876659707
NM_032043.3(BRIP1):c.508-2A>T rs876659707
NM_032043.3(BRIP1):c.508-3C>T
NM_032043.3(BRIP1):c.508-8G>A rs202074040
NM_032043.3(BRIP1):c.508A>G (p.Ile170Val) rs1603361718
NM_032043.3(BRIP1):c.510T>C (p.Ile170=)
NM_032043.3(BRIP1):c.510T>G (p.Ile170Met)
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
NM_032043.3(BRIP1):c.514A>G (p.Lys172Glu) rs1060501765
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter) rs1060501765
NM_032043.3(BRIP1):c.516A>G (p.Lys172=)
NM_032043.3(BRIP1):c.518G>C (p.Arg173Pro) rs761432927
NM_032043.3(BRIP1):c.520C>T (p.His174Tyr) rs776248182
NM_032043.3(BRIP1):c.524G>A (p.Cys175Tyr) rs2145744852
NM_032043.3(BRIP1):c.525C>T (p.Cys175=) rs2078748660
NM_032043.3(BRIP1):c.526T>G (p.Phe176Val) rs746963627
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
NM_032043.3(BRIP1):c.527T>G (p.Phe176Cys) rs2078748560
NM_032043.3(BRIP1):c.529G>C (p.Gly177Arg) rs2078748501
NM_032043.3(BRIP1):c.52C>G (p.Pro18Ala)
NM_032043.3(BRIP1):c.52C>T (p.Pro18Ser) rs1555618724
NM_032043.3(BRIP1):c.530G>A (p.Gly177Glu) rs2078748443
NM_032043.3(BRIP1):c.532A>C (p.Thr178Pro)
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
NM_032043.3(BRIP1):c.533C>G (p.Thr178Arg) rs876658780
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile) rs876658780
NM_032043.3(BRIP1):c.534A>G (p.Thr178=) rs2145744562
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
NM_032043.3(BRIP1):c.536_538dup (p.Glu179dup) rs1567866837
NM_032043.3(BRIP1):c.538G>A (p.Val180Ile) rs1603361670
NM_032043.3(BRIP1):c.538G>C (p.Val180Leu)
NM_032043.3(BRIP1):c.542A>G (p.His181Arg) rs2078748128
NM_032043.3(BRIP1):c.543C>A (p.His181Gln)
NM_032043.3(BRIP1):c.543C>T (p.His181=) rs1285947952
NM_032043.3(BRIP1):c.544A>C (p.Asn182His)
NM_032043.3(BRIP1):c.545A>G (p.Asn182Ser) rs2145744130
NM_032043.3(BRIP1):c.548del (p.Leu183fs) rs1060501778
NM_032043.3(BRIP1):c.549G>A (p.Leu183=) rs1060504335
NM_032043.3(BRIP1):c.549G>C (p.Leu183Phe) rs1060504335
NM_032043.3(BRIP1):c.54T>C (p.Pro18=) rs886053216
NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn) rs201047375
NM_032043.3(BRIP1):c.553G>A (p.Ala185Thr) rs745645356
NM_032043.3(BRIP1):c.556A>C (p.Lys186Gln) rs730881624
NM_032043.3(BRIP1):c.559G>T (p.Val187Phe) rs876659064
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.3(BRIP1):c.560T>C (p.Val187Ala) rs2078747614
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter) rs1555615763
NM_032043.3(BRIP1):c.566C>T (p.Ser189Leu) rs1555615763
NM_032043.3(BRIP1):c.568G>A (p.Gly190Arg)
NM_032043.3(BRIP1):c.572A>G (p.Lys191Arg) rs748268716
NM_032043.3(BRIP1):c.574A>C (p.Thr192Pro) rs2078747261
NM_032043.3(BRIP1):c.575C>A (p.Thr192Asn) rs1429063662
NM_032043.3(BRIP1):c.576T>C (p.Thr192=) rs781282996
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.3(BRIP1):c.579A>G (p.Val193=) rs2145743084
NM_032043.3(BRIP1):c.57T>C (p.Tyr19=) rs876659588
NM_032043.3(BRIP1):c.582A>T (p.Lys194Asn)
NM_032043.3(BRIP1):c.587A>C (p.Asn196Thr)
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys) rs758851721
NM_032043.3(BRIP1):c.588C>T (p.Asn196=) rs758851721
NM_032043.3(BRIP1):c.589T>C (p.Ser197Pro) rs530897769
NM_032043.3(BRIP1):c.590C>A (p.Ser197Tyr) rs533184563
NM_032043.3(BRIP1):c.590C>G (p.Ser197Cys) rs533184563
NM_032043.3(BRIP1):c.591T>A (p.Ser197=)
NM_032043.3(BRIP1):c.592C>A (p.Pro198Thr)
NM_032043.3(BRIP1):c.594A>G (p.Pro198=) rs2145742604
NM_032043.3(BRIP1):c.597G>A (p.Leu199=) rs2078746387
NM_032043.3(BRIP1):c.598G>A (p.Glu200Lys) rs2078746295
NM_032043.3(BRIP1):c.599A>G (p.Glu200Gly) rs1555615732
NM_032043.3(BRIP1):c.5C>T (p.Ser2Phe) rs751194347
NM_032043.3(BRIP1):c.600A>G (p.Glu200=)
NM_032043.3(BRIP1):c.602A>G (p.Lys201Arg) rs1555615729
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
NM_032043.3(BRIP1):c.604A>G (p.Ile202Val) rs778275257
NM_032043.3(BRIP1):c.604A>T (p.Ile202Leu) rs778275257
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer) rs1603361577
NM_032043.3(BRIP1):c.608A>G (p.Asn203Ser) rs2078745913
NM_032043.3(BRIP1):c.608del (p.Asn203fs) rs1603361570
NM_032043.3(BRIP1):c.610T>G (p.Ser204Ala) rs761401027
NM_032043.3(BRIP1):c.611_613del (p.Ser204del) rs1060501731
NM_032043.3(BRIP1):c.612C>T (p.Ser204=)
NM_032043.3(BRIP1):c.613T>C (p.Phe205Leu) rs1603361561
NM_032043.3(BRIP1):c.613T>G (p.Phe205Val) rs1603361561
NM_032043.3(BRIP1):c.618G>A (p.Ser206=) rs367614726
NM_032043.3(BRIP1):c.618G>C (p.Ser206=) rs367614726
NM_032043.3(BRIP1):c.618G>T (p.Ser206=) rs367614726
NM_032043.3(BRIP1):c.620C>T (p.Pro207Leu) rs2145741807
NM_032043.3(BRIP1):c.621A>G (p.Pro207=)
NM_032043.3(BRIP1):c.625A>G (p.Lys209Glu) rs2078745221
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg) rs748912293
NM_032043.3(BRIP1):c.627+11A>G
NM_032043.3(BRIP1):c.627+15C>T
NM_032043.3(BRIP1):c.627+1G>A rs587780833
NM_032043.3(BRIP1):c.627+2T>A rs2078745026
NM_032043.3(BRIP1):c.627+2_627+9dup
NM_032043.3(BRIP1):c.627+3A>G rs777434654
NM_032043.3(BRIP1):c.627+6T>C
NM_032043.3(BRIP1):c.627+7A>G rs1060504334
NM_032043.3(BRIP1):c.627A>G (p.Lys209=) rs1555615717
NM_032043.3(BRIP1):c.628-10T>C rs375646029
NM_032043.3(BRIP1):c.628-11del
NM_032043.3(BRIP1):c.628-15T>C
NM_032043.3(BRIP1):c.628-15dup rs2078118670
NM_032043.3(BRIP1):c.628-1G>A rs1219435870
NM_032043.3(BRIP1):c.628-2A>G rs995056553
NM_032043.3(BRIP1):c.628-2A>T rs995056553
NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG
NM_032043.3(BRIP1):c.628-2dup
NM_032043.3(BRIP1):c.628-3C>T
NM_032043.3(BRIP1):c.628-5T>C
NM_032043.3(BRIP1):c.628-5_629del rs1555609402
NM_032043.3(BRIP1):c.628-6T>G
NM_032043.3(BRIP1):c.628-7C>T rs2145424156
NM_032043.3(BRIP1):c.628-8del rs2145424216
NM_032043.3(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.3(BRIP1):c.629C>T (p.Pro210Leu) rs140097800
NM_032043.3(BRIP1):c.62C>A (p.Ala21Asp) rs1603368436
NM_032043.3(BRIP1):c.62C>T (p.Ala21Val) rs1603368436
NM_032043.3(BRIP1):c.630C>T (p.Pro210=) rs864622510
NM_032043.3(BRIP1):c.631C>T (p.Pro211Ser) rs2078117905
NM_032043.3(BRIP1):c.632C>T (p.Pro211Leu) rs780026145
NM_032043.3(BRIP1):c.632del (p.Pro211fs) rs1060501779
NM_032043.3(BRIP1):c.633T>C (p.Pro211=) rs1603347066
NM_032043.3(BRIP1):c.634G>A (p.Gly212Ser) rs1555609387
NM_032043.3(BRIP1):c.634G>C (p.Gly212Arg) rs1555609387
NM_032043.3(BRIP1):c.636C>A (p.Gly212=) rs1057520255
NM_032043.3(BRIP1):c.637del (p.His213fs)
NM_032043.3(BRIP1):c.638A>C (p.His213Pro) rs376760085
NM_032043.3(BRIP1):c.63T>C (p.Ala21=) rs2145864480
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
NM_032043.3(BRIP1):c.644C>A (p.Ser215Tyr) rs12947398
NM_032043.3(BRIP1):c.644C>T (p.Ser215Phe) rs12947398
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer) rs2078117088
NM_032043.3(BRIP1):c.645T>G (p.Ser215=)
NM_032043.3(BRIP1):c.646A>G (p.Arg216Gly) rs2078116990
NM_032043.3(BRIP1):c.648G>A (p.Arg216=)
NM_032043.3(BRIP1):c.649T>A (p.Cys217Ser) rs2145422887
NM_032043.3(BRIP1):c.64T>A (p.Tyr22Asn) rs876659008
NM_032043.3(BRIP1):c.650G>A (p.Cys217Tyr) rs587782156
NM_032043.3(BRIP1):c.650G>T (p.Cys217Phe) rs587782156
NM_032043.3(BRIP1):c.651C>T (p.Cys217=) rs1555609365
NM_032043.3(BRIP1):c.653G>T (p.Cys218Phe)
NM_032043.3(BRIP1):c.653GTT[1] (p.Cys219del) rs1555609353
NM_032043.3(BRIP1):c.654T>C (p.Cys218=) rs2145422653
NM_032043.3(BRIP1):c.654T>G (p.Cys218Trp)
NM_032043.3(BRIP1):c.656G>A (p.Cys219Tyr) rs587782238
NM_032043.3(BRIP1):c.658T>C (p.Ser220Pro) rs1555609351
NM_032043.3(BRIP1):c.65A>C (p.Tyr22Ser)
NM_032043.3(BRIP1):c.661A>C (p.Thr221Pro) rs777618772
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter) rs1603346983
NM_032043.3(BRIP1):c.667C>G (p.Gln223Glu)
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter) rs786201733
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter) rs1603368431
NM_032043.3(BRIP1):c.66C>T (p.Tyr22=) rs1603368431
NM_032043.3(BRIP1):c.670G>C (p.Gly224Arg) rs1567838486
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.3(BRIP1):c.672A>C (p.Gly224=) rs752356873
NM_032043.3(BRIP1):c.675C>T (p.Asn225=) rs2145421606
NM_032043.3(BRIP1):c.677G>A (p.Ser226Asn) rs2078115717
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032043.3(BRIP1):c.67C>A (p.Pro23Thr) rs1603368425
NM_032043.3(BRIP1):c.67C>G (p.Pro23Ala) rs1603368425
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
NM_032043.3(BRIP1):c.681A>G (p.Gln227=) rs1603346946
NM_032043.3(BRIP1):c.683A>G (p.Glu228Gly)
NM_032043.3(BRIP1):c.684G>T (p.Glu228Asp) rs876659909
NM_032043.3(BRIP1):c.685T>C (p.Ser229Pro) rs2145421239
NM_032043.3(BRIP1):c.688T>C (p.Ser230Pro) rs2145421148
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
NM_032043.3(BRIP1):c.68C>G (p.Pro23Arg)
NM_032043.3(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.3(BRIP1):c.690G>A (p.Ser230=) rs751460179
NM_032043.3(BRIP1):c.690G>C (p.Ser230=) rs751460179
NM_032043.3(BRIP1):c.694A>C (p.Thr232Pro) rs2078115132
NM_032043.3(BRIP1):c.695C>G (p.Thr232Ser) rs762781085
NM_032043.3(BRIP1):c.696C>T (p.Thr232=) rs772957320
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val) rs769535320
NM_032043.3(BRIP1):c.699T>C (p.Ile233=)
NM_032043.3(BRIP1):c.700A>C (p.Lys234Gln) rs1060501780
NM_032043.3(BRIP1):c.700A>G (p.Lys234Glu) rs1060501780
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del) rs876659379
NM_032043.3(BRIP1):c.701A>C (p.Lys234Thr) rs587780834
NM_032043.3(BRIP1):c.706G>C (p.Asp236His) rs1555609300
NM_032043.3(BRIP1):c.707A>T (p.Asp236Val) rs1567838306
NM_032043.3(BRIP1):c.710A>G (p.His237Arg) rs1567838288
NM_032043.3(BRIP1):c.711T>C (p.His237=) rs772048413
NM_032043.3(BRIP1):c.712A>G (p.Thr238Ala) rs1490001091
NM_032043.3(BRIP1):c.717G>A (p.Gly239=) rs2078113961
NM_032043.3(BRIP1):c.719A>C (p.Lys240Thr) rs1350322711
NM_032043.3(BRIP1):c.719A>T (p.Lys240Ile) rs1350322711
NM_032043.3(BRIP1):c.71C>T (p.Ser24Leu) rs1567878087
NM_032043.3(BRIP1):c.71dup (p.Gln25fs) rs2145864140
NM_032043.3(BRIP1):c.720A>G (p.Lys240=) rs1259212372
NM_032043.3(BRIP1):c.720del (p.Lys240fs) rs1567838246
NM_032043.3(BRIP1):c.721T>A (p.Ser241Thr)
NM_032043.3(BRIP1):c.723C>T (p.Ser241=) rs1567838225
NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg) rs876660647
NM_032043.3(BRIP1):c.726G>T (p.Lys242Asn)
NM_032043.3(BRIP1):c.726_734del (p.Pro244_Ile246del)
NM_032043.3(BRIP1):c.727A>T (p.Ile243Leu) rs2078113517
NM_032043.3(BRIP1):c.730C>G (p.Pro244Ala)
NM_032043.3(BRIP1):c.730_738del (p.Pro244_Ile246del) rs1603346861
NM_032043.3(BRIP1):c.731C>G (p.Pro244Arg) rs2145419213
NM_032043.3(BRIP1):c.732C>T (p.Pro244=) rs786202300
NM_032043.3(BRIP1):c.734A>G (p.Lys245Arg) rs1064795594
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter) rs1603346857
NM_032043.3(BRIP1):c.735A>C (p.Lys245Asn)
NM_032043.3(BRIP1):c.735A>G (p.Lys245=) rs2145419080
NM_032043.3(BRIP1):c.736A>C (p.Ile246Leu) rs376893571
NM_032043.3(BRIP1):c.736A>T (p.Ile246Leu) rs376893571
NM_032043.3(BRIP1):c.737T>G (p.Ile246Arg)
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter) rs2078971612
NM_032043.3(BRIP1):c.73_74insGAC (p.Ser24_Gln25insArg) rs2145864048
NM_032043.3(BRIP1):c.73_93+14del rs2145863122
NM_032043.3(BRIP1):c.741T>C (p.Tyr247=)
NM_032043.3(BRIP1):c.743T>C (p.Phe248Ser) rs2078112912
NM_032043.3(BRIP1):c.746G>A (p.Gly249Glu) rs2078112856
NM_032043.3(BRIP1):c.747G>A (p.Gly249=) rs2145418607
NM_032043.3(BRIP1):c.748A>T (p.Thr250Ser) rs2078112756
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg) rs1555609275
NM_032043.3(BRIP1):c.750A>T (p.Thr250=) rs1057522393
NM_032043.3(BRIP1):c.752G>C (p.Arg251Pro) rs780834054
NM_032043.3(BRIP1):c.754A>C (p.Thr252Pro)
NM_032043.3(BRIP1):c.754A>G (p.Thr252Ala) rs1567838131
NM_032043.3(BRIP1):c.755C>T (p.Thr252Ile) rs1567838124
NM_032043.3(BRIP1):c.756A>G (p.Thr252=)
NM_032043.3(BRIP1):c.757C>G (p.His253Asp) rs2078112338
NM_032043.3(BRIP1):c.758A>G (p.His253Arg) rs2078112284
NM_032043.3(BRIP1):c.759C>G (p.His253Gln)
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs) rs2078112240
NM_032043.3(BRIP1):c.75G>A (p.Gln25=) rs1555618712
NM_032043.3(BRIP1):c.761A>G (p.Lys254Arg) rs2145417925
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs) rs2078112057
NM_032043.3(BRIP1):c.764A>C (p.Gln255Pro) rs1567838107
NM_032043.3(BRIP1):c.764A>G (p.Gln255Arg) rs1567838107
NM_032043.3(BRIP1):c.765G>A (p.Gln255=) rs2078111971
NM_032043.3(BRIP1):c.765G>T (p.Gln255His) rs2078111971
NM_032043.3(BRIP1):c.766A>G (p.Ile256Val) rs2145417649
NM_032043.3(BRIP1):c.768T>C (p.Ile256=) rs1452578169
NM_032043.3(BRIP1):c.769G>A (p.Ala257Thr) rs754515912
NM_032043.3(BRIP1):c.769_777dup (p.Ala257_Ile259dup) rs1603346813
NM_032043.3(BRIP1):c.770C>T (p.Ala257Val) rs1555609260
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter) rs1555609257
NM_032043.3(BRIP1):c.773A>C (p.Gln258Pro) rs1567838078
NM_032043.3(BRIP1):c.775A>G (p.Ile259Val) rs2145417254
NM_032043.3(BRIP1):c.775A>T (p.Ile259Phe)
NM_032043.3(BRIP1):c.777dup (p.Thr260fs) rs1555609254
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
NM_032043.3(BRIP1):c.77T>C (p.Leu26Pro) rs1603368414
NM_032043.3(BRIP1):c.77T>G (p.Leu26Arg) rs1603368414
NM_032043.3(BRIP1):c.781A>G (p.Arg261Gly) rs2078111313
NM_032043.3(BRIP1):c.783A>T (p.Arg261Ser) rs1441703380
NM_032043.3(BRIP1):c.784G>A (p.Glu262Lys) rs2145416868
NM_032043.3(BRIP1):c.785A>C (p.Glu262Ala) rs876658283
NM_032043.3(BRIP1):c.786G>A (p.Glu262=) rs876658312
NM_032043.3(BRIP1):c.786G>T (p.Glu262Asp)
NM_032043.3(BRIP1):c.787C>G (p.Leu263Val) rs1060501776
NM_032043.3(BRIP1):c.788T>C (p.Leu263Pro)
NM_032043.3(BRIP1):c.789C>A (p.Leu263=) rs1603346789
NM_032043.3(BRIP1):c.789C>G (p.Leu263=) rs1603346789
NM_032043.3(BRIP1):c.789C>T (p.Leu263=) rs1603346789
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.790C>G (p.Arg264Gly) rs28997569
NM_032043.3(BRIP1):c.792G>T (p.Arg264=) rs1555609230
NM_032043.3(BRIP1):c.793A>G (p.Arg265Gly) rs876659650
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser) rs61754143
NM_032043.3(BRIP1):c.798G>A (p.Thr266=) rs1260055674
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs) rs1603368490
NM_032043.3(BRIP1):c.800C>T (p.Ala267Val) rs730881631
NM_032043.3(BRIP1):c.803A>G (p.Tyr268Cys) rs2078110465
NM_032043.3(BRIP1):c.804T>C (p.Tyr268=) rs587782514
NM_032043.3(BRIP1):c.805T>C (p.Ser269Pro) rs2078110345
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
NM_032043.3(BRIP1):c.806C>T (p.Ser269Leu) rs1412610651
NM_032043.3(BRIP1):c.807A>G (p.Ser269=)
NM_032043.3(BRIP1):c.808G>A (p.Gly270Arg) rs1401241698
NM_032043.3(BRIP1):c.815C>T (p.Pro272Leu)
NM_032043.3(BRIP1):c.816A>C (p.Pro272=) rs765027420
NM_032043.3(BRIP1):c.816A>G (p.Pro272=) rs765027420
NM_032043.3(BRIP1):c.817A>C (p.Met273Leu) rs587781797
NM_032043.3(BRIP1):c.817A>G (p.Met273Val) rs587781797
NM_032043.3(BRIP1):c.819_824del (p.Met273_Thr274del) rs2145414960
NM_032043.3(BRIP1):c.822T>C (p.Thr274=)
NM_032043.3(BRIP1):c.823A>C (p.Ile275Leu)
NM_032043.3(BRIP1):c.823A>T (p.Ile275Phe) rs587781425
NM_032043.3(BRIP1):c.826C>T (p.Leu276Phe)
NM_032043.3(BRIP1):c.82A>G (p.Met28Val) rs1330147176
NM_032043.3(BRIP1):c.82A>T (p.Met28Leu) rs1330147176
NM_032043.3(BRIP1):c.831C>T (p.Ser277=) rs45549332
NM_032043.3(BRIP1):c.832A>C (p.Ser278Arg) rs1567837876
NM_032043.3(BRIP1):c.832A>G (p.Ser278Gly) rs1567837876
NM_032043.3(BRIP1):c.834C>T (p.Ser278=) rs1060501725
NM_032043.3(BRIP1):c.836G>A (p.Arg279Lys)
NM_032043.3(BRIP1):c.837G>A (p.Arg279=)
NM_032043.3(BRIP1):c.837G>C (p.Arg279Ser) rs759584091
NM_032043.3(BRIP1):c.837G>T (p.Arg279Ser) rs759584091
NM_032043.3(BRIP1):c.838G>T (p.Asp280Tyr) rs2078109366
NM_032043.3(BRIP1):c.839A>T (p.Asp280Val)
NM_032043.3(BRIP1):c.83T>A (p.Met28Lys) rs786202674
NM_032043.3(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.3(BRIP1):c.841C>A (p.His281Asn) rs1064795442
NM_032043.3(BRIP1):c.842A>C (p.His281Pro) rs1603346710
NM_032043.3(BRIP1):c.842A>G (p.His281Arg)
NM_032043.3(BRIP1):c.843T>C (p.His281=) rs1555609187
NM_032043.3(BRIP1):c.844dup (p.Thr282fs) rs2145414039
NM_032043.3(BRIP1):c.845C>T (p.Thr282Ile) rs45624635
NM_032043.3(BRIP1):c.846T>C (p.Thr282=) rs2145413899
NM_032043.3(BRIP1):c.847T>C (p.Cys283Arg) rs1555609186
NM_032043.3(BRIP1):c.847T>G (p.Cys283Gly) rs1555609186
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr) rs771096783
NM_032043.3(BRIP1):c.848G>T (p.Cys283Phe) rs771096783
NM_032043.3(BRIP1):c.851T>C (p.Val284Ala)
NM_032043.3(BRIP1):c.854A>C (p.His285Pro) rs141055990
NM_032043.3(BRIP1):c.855T>C (p.His285=)
NM_032043.3(BRIP1):c.856C>T (p.Pro286Ser) rs770289817
NM_032043.3(BRIP1):c.857C>G (p.Pro286Arg) rs2078108519
NM_032043.3(BRIP1):c.858T>C (p.Pro286=) rs2145413343
NM_032043.3(BRIP1):c.85A>G (p.Met29Val) rs2078971287
NM_032043.3(BRIP1):c.861G>C (p.Glu287Asp) rs1603346684
NM_032043.3(BRIP1):c.863T>C (p.Val288Ala) rs1375475281
NM_032043.3(BRIP1):c.864A>G (p.Val288=) rs748545827
NM_032043.3(BRIP1):c.865G>A (p.Val289Ile) rs1567837768
NM_032043.3(BRIP1):c.865G>C (p.Val289Leu) rs1567837768
NM_032043.3(BRIP1):c.866T>G (p.Val289Gly) rs2078108215
NM_032043.3(BRIP1):c.866del (p.Val289fs) rs864622166
NM_032043.3(BRIP1):c.867C>A (p.Val289=) rs147739458
NM_032043.3(BRIP1):c.867C>G (p.Val289=) rs147739458
NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser) rs145601931
NM_032043.3(BRIP1):c.869G>C (p.Gly290Ala) rs148556781
NM_032043.3(BRIP1):c.876del (p.Phe292fs) rs1555609162
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile) rs769585673
NM_032043.3(BRIP1):c.885T>C (p.Asn295=)
NM_032043.3(BRIP1):c.886G>A (p.Glu296Lys) rs876660125
NM_032043.3(BRIP1):c.887A>C (p.Glu296Ala) rs878855158
NM_032043.3(BRIP1):c.888G>C (p.Glu296Asp) rs876658249
NM_032043.3(BRIP1):c.889A>C (p.Lys297Gln) rs876658528
NM_032043.3(BRIP1):c.88A>C (p.Asn30His)
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr) rs28997570
NM_032043.3(BRIP1):c.890A>T (p.Lys297Met)
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs) rs878855159
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.3(BRIP1):c.892T>C (p.Cys298Arg) rs1555609145
NM_032043.3(BRIP1):c.893G>A (p.Cys298Tyr)
NM_032043.3(BRIP1):c.894C>G (p.Cys298Trp)
NM_032043.3(BRIP1):c.894C>T (p.Cys298=) rs2078107086
NM_032043.3(BRIP1):c.895A>C (p.Met299Leu)
NM_032043.3(BRIP1):c.895A>G (p.Met299Val) rs1242769076
NM_032043.3(BRIP1):c.896T>C (p.Met299Thr) rs2078106961
NM_032043.3(BRIP1):c.897G>A (p.Met299Ile) rs137852985
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter) rs1603368491
NM_032043.3(BRIP1):c.901T>C (p.Leu301=) rs2145411199
NM_032043.3(BRIP1):c.901T>G (p.Leu301Val)
NM_032043.3(BRIP1):c.902T>C (p.Leu301Ser) rs750376292
NM_032043.3(BRIP1):c.903G>A (p.Leu301=) rs876660578
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.905T>C (p.Leu302Pro)
NM_032043.3(BRIP1):c.906A>G (p.Leu302=)
NM_032043.3(BRIP1):c.907G>T (p.Asp303Tyr) rs2145410870
NM_032043.3(BRIP1):c.908A>G (p.Asp303Gly) rs1555609130
NM_032043.3(BRIP1):c.909T>C (p.Asp303=)
NM_032043.3(BRIP1):c.910G>A (p.Gly304Arg) rs1567837588
NM_032043.3(BRIP1):c.911G>A (p.Gly304Glu) rs1459305482
NM_032043.3(BRIP1):c.912G>A (p.Gly304=) rs786201326
NM_032043.3(BRIP1):c.912G>C (p.Gly304=) rs786201326
NM_032043.3(BRIP1):c.914A>C (p.Lys305Thr)
NM_032043.3(BRIP1):c.917A>G (p.Asn306Ser) rs1567837564
NM_032043.3(BRIP1):c.917dup (p.Asn306fs) rs1555609121
NM_032043.3(BRIP1):c.918+10G>A rs1365605495
NM_032043.3(BRIP1):c.918+12T>G
NM_032043.3(BRIP1):c.918+14T>C rs757068323
NM_032043.3(BRIP1):c.918+14T>G
NM_032043.3(BRIP1):c.918+17T>C
NM_032043.3(BRIP1):c.918+17del
NM_032043.3(BRIP1):c.918+2790_1121del
NM_032043.3(BRIP1):c.918+5G>A rs2078106072
NM_032043.3(BRIP1):c.918+7A>G rs1060504329
NM_032043.3(BRIP1):c.918+8A>C rs765147876
NM_032043.3(BRIP1):c.918+9A>G rs2145410020
NM_032043.3(BRIP1):c.918C>T (p.Asn306=) rs876660724
NM_032043.3(BRIP1):c.918del (p.Asn306fs) rs1555609116
NM_032043.3(BRIP1):c.919-10T>A
NM_032043.3(BRIP1):c.919-12A>G
NM_032043.3(BRIP1):c.919-14A>G rs928815517
NM_032043.3(BRIP1):c.919-14A>T
NM_032043.3(BRIP1):c.919-16G>A
NM_032043.3(BRIP1):c.919-16G>T
NM_032043.3(BRIP1):c.919-17dup
NM_032043.3(BRIP1):c.919-18A>C
NM_032043.3(BRIP1):c.919-18A>T rs773910941
NM_032043.3(BRIP1):c.919-1G>A
NM_032043.3(BRIP1):c.919-3T>C rs2077994124
NM_032043.3(BRIP1):c.919-4C>T
NM_032043.3(BRIP1):c.919-8G>A rs777079928
NM_032043.3(BRIP1):c.920G>A (p.Gly307Glu) rs1603343427
NM_032043.3(BRIP1):c.920G>C (p.Gly307Ala) rs1603343427
NM_032043.3(BRIP1):c.921A>G (p.Gly307=) rs786202337
NM_032043.3(BRIP1):c.926C>A (p.Ser309Tyr) rs2077993753
NM_032043.3(BRIP1):c.926C>T (p.Ser309Phe) rs2077993753
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr) rs1567832184
NM_032043.3(BRIP1):c.929G>C (p.Cys310Ser) rs1567832184
NM_032043.3(BRIP1):c.929_931del (p.Cys310del) rs2145342477
NM_032043.3(BRIP1):c.93+10T>A rs2145863247
NM_032043.3(BRIP1):c.93+11_93+12dup rs1064794767
NM_032043.3(BRIP1):c.93+14A>C
NM_032043.3(BRIP1):c.93+15G>T rs113052745
NM_032043.3(BRIP1):c.93+17A>G rs778826728
NM_032043.3(BRIP1):c.93+1G>A rs587782047
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.93+2T>C rs775755739
NM_032043.3(BRIP1):c.93+2del
NM_032043.3(BRIP1):c.93+3A>C
NM_032043.3(BRIP1):c.93+4A>T
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.93+5G>A rs730881629
NM_032043.3(BRIP1):c.93+6T>C rs2078970954
NM_032043.3(BRIP1):c.93+8T>G rs1567878012
NM_032043.3(BRIP1):c.93+9T>A
NM_032043.3(BRIP1):c.931T>C (p.Tyr311His) rs1603343412
NM_032043.3(BRIP1):c.932A>T (p.Tyr311Phe) rs587782731
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs) rs1555607792
NM_032043.3(BRIP1):c.932del (p.Tyr311fs) rs587778138
NM_032043.3(BRIP1):c.934T>A (p.Phe312Ile) rs2145342258
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter) rs1436085018
NM_032043.3(BRIP1):c.93T>C (p.Ser31=) rs1555618697
NM_032043.3(BRIP1):c.94-10del rs2145853311
NM_032043.3(BRIP1):c.94-16G>C
NM_032043.3(BRIP1):c.94-1G>A
NM_032043.3(BRIP1):c.94-4A>T rs765154059
NM_032043.3(BRIP1):c.94-5C>G rs2078952191
NM_032043.3(BRIP1):c.94-7_178dup rs1555618396
NM_032043.3(BRIP1):c.94-8G>A
NM_032043.3(BRIP1):c.94-8G>T rs750361927
NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)
NM_032043.3(BRIP1):c.941A>G (p.His314Arg) rs112076926
NM_032043.3(BRIP1):c.942T>C (p.His314=)
NM_032043.3(BRIP1):c.944G>A (p.Gly315Glu) rs867548960
NM_032043.3(BRIP1):c.944G>T (p.Gly315Val) rs867548960
NM_032043.3(BRIP1):c.945A>G (p.Gly315=)
NM_032043.3(BRIP1):c.945A>T (p.Gly315=)
NM_032043.3(BRIP1):c.949C>G (p.His317Asp)
NM_032043.3(BRIP1):c.94A>T (p.Ile32Phe) rs776386693
NM_032043.3(BRIP1):c.953A>G (p.Lys318Arg) rs2077992906
NM_032043.3(BRIP1):c.957T>C (p.Ile319=)
NM_032043.3(BRIP1):c.958A>G (p.Ser320Gly) rs2145341128
NM_032043.3(BRIP1):c.958del (p.Ser320fs) rs864622236
NM_032043.3(BRIP1):c.961G>A (p.Asp321Asn)
NM_032043.3(BRIP1):c.962A>G (p.Asp321Gly) rs2077992652
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter) rs587778139
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
NM_032043.3(BRIP1):c.965A>G (p.Gln322Arg) rs1567832102
NM_032043.3(BRIP1):c.966G>A (p.Gln322=) rs2145340652
NM_032043.3(BRIP1):c.967C>T (p.His323Tyr) rs2077992477
NM_032043.3(BRIP1):c.969C>A (p.His323Gln) rs1555607775
NM_032043.3(BRIP1):c.969C>G (p.His323Gln) rs1555607775
NM_032043.3(BRIP1):c.969C>T (p.His323=) rs1555607775
NM_032043.3(BRIP1):c.96del (p.Leu33fs) rs1603367753
NM_032043.3(BRIP1):c.972A>G (p.Thr324=) rs779627397
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe) rs771630777
NM_032043.3(BRIP1):c.976C>G (p.Gln326Glu) rs1555607768
NM_032043.3(BRIP1):c.977A>G (p.Gln326Arg) rs1064794046
NM_032043.3(BRIP1):c.978G>A (p.Gln326=) rs1555607764
NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)
NM_032043.3(BRIP1):c.980C>T (p.Thr327Ile) rs2145339793
NM_032043.3(BRIP1):c.981T>A (p.Thr327=) rs2145339751
NM_032043.3(BRIP1):c.983T>A (p.Phe328Tyr)
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser) rs876659057
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs) rs2145339188
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter) rs2077991700
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
NM_032043.3(BRIP1):c.986A>G (p.Gln329Arg) rs778863018
NM_032043.3(BRIP1):c.990G>A (p.Gly330=) rs1060504320
NM_032043.3(BRIP1):c.992T>A (p.Met331Lys)
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile) rs587780252
NM_032043.3(BRIP1):c.995G>A (p.Cys332Tyr) rs876660521
NM_032043.3(BRIP1):c.997A>G (p.Lys333Glu) rs757196702
NM_032043.3(BRIP1):c.998A>G (p.Lys333Arg) rs2145338700
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032444.4(SLX4):c.*128A>G rs528843807
NM_032444.4(SLX4):c.*298_*301del rs566716185
NM_032444.4(SLX4):c.*469A>T rs868278470
NM_032444.4(SLX4):c.*493G>T rs530681898
NM_032444.4(SLX4):c.*54A>C rs1596514118
NM_032444.4(SLX4):c.*82C>T rs2040444401
NM_032444.4(SLX4):c.*944A>G rs1032936956
NM_032444.4(SLX4):c.-143_-140del rs779611690
NM_032444.4(SLX4):c.-210G>A rs747849749
NM_032444.4(SLX4):c.-211dup rs149138178
NM_032444.4(SLX4):c.-614G>C rs2040876181
NM_032444.4(SLX4):c.-631G>A rs1430818218
NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)
NM_032444.4(SLX4):c.1010C>A (p.Pro337Gln) rs200363140
NM_032444.4(SLX4):c.1014T>C (p.Ile338=)
NM_032444.4(SLX4):c.1018G>A (p.Gly340Arg)
NM_032444.4(SLX4):c.1019G>C (p.Gly340Ala)
NM_032444.4(SLX4):c.101A>T (p.Gln34Leu) rs1567178416
NM_032444.4(SLX4):c.1025C>T (p.Pro342Leu)
NM_032444.4(SLX4):c.1029del (p.Thr345fs)
NM_032444.4(SLX4):c.103C>T (p.Pro35Ser) rs2040816588
NM_032444.4(SLX4):c.1045A>G (p.Arg349Gly)
NM_032444.4(SLX4):c.1055A>G (p.His352Arg)
NM_032444.4(SLX4):c.1059G>C (p.Leu353Phe) rs1431335924
NM_032444.4(SLX4):c.1062G>T (p.Lys354Asn) rs2151134083
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
NM_032444.4(SLX4):c.1076A>T (p.Lys359Met) rs2151134068
NM_032444.4(SLX4):c.107A>T (p.Glu36Val) rs370082083
NM_032444.4(SLX4):c.1080G>A (p.Met360Ile)
NM_032444.4(SLX4):c.1083G>C (p.Glu361Asp) rs1361684518
NM_032444.4(SLX4):c.1084G>C (p.Val362Leu) rs2040721687
NM_032444.4(SLX4):c.1090C>T (p.Pro364Ser) rs775276756
NM_032444.4(SLX4):c.1091C>A (p.Pro364His)
NM_032444.4(SLX4):c.1093del (p.Gln365fs) rs1218169126
NM_032444.4(SLX4):c.1094A>G (p.Gln365Arg) rs1243083910
NM_032444.4(SLX4):c.1094A>T (p.Gln365Leu)
NM_032444.4(SLX4):c.1095G>A (p.Gln365=) rs2151134031
NM_032444.4(SLX4):c.1097_1098delinsAA (p.Leu366Gln) rs2151134024
NM_032444.4(SLX4):c.1108G>C (p.Ala370Pro)
NM_032444.4(SLX4):c.1110T>C (p.Ala370=) rs886051981
NM_032444.4(SLX4):c.1114C>T (p.Arg372Trp) rs781393524
NM_032444.4(SLX4):c.1115G>T (p.Arg372Leu) rs372956623
NM_032444.4(SLX4):c.1116_1117insT (p.Leu373fs) rs2151133987
NM_032444.4(SLX4):c.1119G>A (p.Leu373=)
NM_032444.4(SLX4):c.1123A>C (p.Thr375Pro) rs2151133974
NM_032444.4(SLX4):c.1125del (p.Ala376fs) rs2151133964
NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter) rs1171341642
NM_032444.4(SLX4):c.1130A>G (p.Gln377Arg)
NM_032444.4(SLX4):c.1141AGC[2] (p.Ser383del) rs938490986
NM_032444.4(SLX4):c.1142G>A (p.Ser381Asn) rs2040720721
NM_032444.4(SLX4):c.1151_1152inv (p.Pro384Leu)
NM_032444.4(SLX4):c.1163+10C>G rs80116508
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1163+11G>T
NM_032444.4(SLX4):c.1163+1G>A
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.1163+3dup rs2040719776
NM_032444.4(SLX4):c.1164-15T>G
NM_032444.4(SLX4):c.1164-9G>A rs2040686112
NM_032444.4(SLX4):c.1175A>C (p.His392Pro) rs2151132152
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val) rs1596528058
NM_032444.4(SLX4):c.1188G>A (p.Leu396=) rs2151132132
NM_032444.4(SLX4):c.1193G>C (p.Arg398Pro) rs200030312
NM_032444.4(SLX4):c.1195A>G (p.Arg399Gly) rs2040685339
NM_032444.4(SLX4):c.1207_1208delinsCC (p.Ser403Pro)
NM_032444.4(SLX4):c.1212G>C (p.Lys404Asn)
NM_032444.4(SLX4):c.1226A>G (p.Lys409Arg) rs2151132042
NM_032444.4(SLX4):c.1227G>A (p.Lys409=) rs534443134
NM_032444.4(SLX4):c.1230G>A (p.Arg410=) rs991787767
NM_032444.4(SLX4):c.1236G>A (p.Lys412=)
NM_032444.4(SLX4):c.1237G>C (p.Val413Leu)
NM_032444.4(SLX4):c.1239G>A (p.Val413=)
NM_032444.4(SLX4):c.1242C>T (p.Asp414=)
NM_032444.4(SLX4):c.1246G>A (p.Ala416Thr) rs1273526453
NM_032444.4(SLX4):c.1250C>T (p.Pro417Leu)
NM_032444.4(SLX4):c.1254C>G (p.Ser418=)
NM_032444.4(SLX4):c.1254C>T (p.Ser418=)
NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)
NM_032444.4(SLX4):c.1257G>A (p.Glu419=) rs2151131965
NM_032444.4(SLX4):c.1259A>G (p.Asp420Gly) rs1596527931
NM_032444.4(SLX4):c.1266G>C (p.Leu422=)
NM_032444.4(SLX4):c.1272C>T (p.Ala424=) rs2151131919
NM_032444.4(SLX4):c.1274T>C (p.Met425Thr)
NM_032444.4(SLX4):c.1276G>T (p.Ala426Ser)
NM_032444.4(SLX4):c.1283C>T (p.Ser428Phe)
NM_032444.4(SLX4):c.1284C>G (p.Ser428=)
NM_032444.4(SLX4):c.1286G>A (p.Arg429Gln)
NM_032444.4(SLX4):c.1286G>T (p.Arg429Leu)
NM_032444.4(SLX4):c.1290G>A (p.Ser430=)
NM_032444.4(SLX4):c.1298A>G (p.Glu433Gly) rs2151131871
NM_032444.4(SLX4):c.1302G>A (p.Pro434=)
NM_032444.4(SLX4):c.1302G>T (p.Pro434=)
NM_032444.4(SLX4):c.1320G>T (p.Ala440=)
NM_032444.4(SLX4):c.1322T>A (p.Leu441His) rs2040681820
NM_032444.4(SLX4):c.1322T>C (p.Leu441Pro)
NM_032444.4(SLX4):c.1325G>C (p.Arg442Thr) rs886051979
NM_032444.4(SLX4):c.1326G>A (p.Arg442=)
NM_032444.4(SLX4):c.1329G>A (p.Leu443=) rs2151131782
NM_032444.4(SLX4):c.1331A>C (p.Glu444Ala) rs2040681362
NM_032444.4(SLX4):c.1334G>A (p.Ser445Asn) rs2151131780
NM_032444.4(SLX4):c.1352T>A (p.Ile451Lys) rs1380174760
NM_032444.4(SLX4):c.1366+10A>T
NM_032444.4(SLX4):c.1366+16A>T
NM_032444.4(SLX4):c.1366+4T>C
NM_032444.4(SLX4):c.1366+6T>C rs756854257
NM_032444.4(SLX4):c.1367-14T>C rs2151131642
NM_032444.4(SLX4):c.1367-17C>T
NM_032444.4(SLX4):c.1367-2A>G rs2040679706
NM_032444.4(SLX4):c.1367-7T>C rs2040679730
NM_032444.4(SLX4):c.1373A>G (p.Lys458Arg)
NM_032444.4(SLX4):c.1379G>T (p.Arg460Leu) rs369994733
NM_032444.4(SLX4):c.1390C>A (p.Pro464Thr) rs2040679198
NM_032444.4(SLX4):c.1395G>A (p.Pro465=) rs569518866
NM_032444.4(SLX4):c.1396G>A (p.Val466Ile)
NM_032444.4(SLX4):c.139T>G (p.Ser47Ala)
NM_032444.4(SLX4):c.1400C>A (p.Ser467Tyr)
NM_032444.4(SLX4):c.1400C>T (p.Ser467Phe)
NM_032444.4(SLX4):c.1404C>A (p.Pro468=)
NM_032444.4(SLX4):c.1404C>T (p.Pro468=)
NM_032444.4(SLX4):c.1405C>A (p.Pro469Thr) rs763833617
NM_032444.4(SLX4):c.1405C>T (p.Pro469Ser) rs763833617
NM_032444.4(SLX4):c.1406dup (p.Leu470fs)
NM_032444.4(SLX4):c.1421A>G (p.Gln474Arg)
NM_032444.4(SLX4):c.1438G>A (p.Gly480Ser) rs2151131486
NM_032444.4(SLX4):c.1444C>G (p.Gln482Glu) rs1567174047
NM_032444.4(SLX4):c.1448T>C (p.Ile483Thr)
NM_032444.4(SLX4):c.1450G>A (p.Glu484Lys)
NM_032444.4(SLX4):c.1475C>G (p.Ser492Cys)
NM_032444.4(SLX4):c.1488A>G (p.Glu496=) rs1596527585
NM_032444.4(SLX4):c.1498A>C (p.Thr500Pro)
NM_032444.4(SLX4):c.1499C>A (p.Thr500Lys)
NM_032444.4(SLX4):c.1507C>T (p.Leu503Phe)
NM_032444.4(SLX4):c.1511C>G (p.Pro504Arg) rs569591337
NM_032444.4(SLX4):c.1521G>A (p.Arg507=)
NM_032444.4(SLX4):c.1533del (p.Trp513fs)
NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)
NM_032444.4(SLX4):c.1545A>G (p.Arg515=)
NM_032444.4(SLX4):c.1546G>T (p.Ala516Ser) rs1260563876
NM_032444.4(SLX4):c.1548G>A (p.Ala516=)
NM_032444.4(SLX4):c.1550G>A (p.Gly517Asp) rs772562892
NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)
NM_032444.4(SLX4):c.1553A>G (p.Gln518Arg)
NM_032444.4(SLX4):c.1557TCC[2] (p.Pro523del) rs761510940
NM_032444.4(SLX4):c.1559C>G (p.Pro520Arg)
NM_032444.4(SLX4):c.1568C>G (p.Pro523Arg) rs2040675640
NM_032444.4(SLX4):c.1569T>C (p.Pro523=) rs2151131241
NM_032444.4(SLX4):c.1571A>T (p.Glu524Val)
NM_032444.4(SLX4):c.1572A>G (p.Glu524=)
NM_032444.4(SLX4):c.1594G>A (p.Glu532Lys) rs2040675047
NM_032444.4(SLX4):c.1596G>A (p.Glu532=) rs2151131185
NM_032444.4(SLX4):c.1596G>C (p.Glu532Asp) rs2151131185
NM_032444.4(SLX4):c.1598G>T (p.Gly533Val) rs369243098
NM_032444.4(SLX4):c.1615G>A (p.Ala539Thr) rs772612094
NM_032444.4(SLX4):c.1629_1630delinsAC (p.Asp544His) rs2040674138
NM_032444.4(SLX4):c.1641G>C (p.Thr547=)
NM_032444.4(SLX4):c.1643C>G (p.Ala548Gly)
NM_032444.4(SLX4):c.1644C>T (p.Ala548=)
NM_032444.4(SLX4):c.1646G>C (p.Arg549Thr)
NM_032444.4(SLX4):c.1655C>T (p.Pro552Leu)
NM_032444.4(SLX4):c.1656T>G (p.Pro552=) rs1596527364
NM_032444.4(SLX4):c.1663G>A (p.Val555Met) rs763869769
NM_032444.4(SLX4):c.1672C>A (p.Arg558=) rs372264472
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp) rs372264472
NM_032444.4(SLX4):c.1673G>T (p.Arg558Leu)
NM_032444.4(SLX4):c.1683+20C>T rs776626195
NM_032444.4(SLX4):c.1683+7C>T rs1489386420
NM_032444.4(SLX4):c.1683+9C>T rs1242929879
NM_032444.4(SLX4):c.1684-11G>A
NM_032444.4(SLX4):c.1684-12G>T
NM_032444.4(SLX4):c.1684-18C>T
NM_032444.4(SLX4):c.1684-1G>A
NM_032444.4(SLX4):c.1684-2A>C
NM_032444.4(SLX4):c.1692G>A (p.Met564Ile) rs2151130279
NM_032444.4(SLX4):c.1699C>T (p.Pro567Ser) rs765739226
NM_032444.4(SLX4):c.16A>T (p.Asn6Tyr) rs1420004804
NM_032444.4(SLX4):c.1705C>T (p.Pro569Ser)
NM_032444.4(SLX4):c.1720C>G (p.Pro574Ala) rs2040659325
NM_032444.4(SLX4):c.1731dup (p.Glu578fs)
NM_032444.4(SLX4):c.1738A>G (p.Ser580Gly)
NM_032444.4(SLX4):c.1743G>A (p.Glu581=)
NM_032444.4(SLX4):c.1748G>A (p.Arg583Lys) rs750768695
NM_032444.4(SLX4):c.1748G>C (p.Arg583Thr)
NM_032444.4(SLX4):c.1755C>A (p.Pro585=) rs114016359
NM_032444.4(SLX4):c.1759C>T (p.Leu587Phe)
NM_032444.4(SLX4):c.1766G>T (p.Gly589Val)
NM_032444.4(SLX4):c.1790C>G (p.Ser597Cys)
NM_032444.4(SLX4):c.1796G>A (p.Gly599Asp)
NM_032444.4(SLX4):c.1799C>A (p.Pro600Gln) rs749277750
NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu) rs749277750
NM_032444.4(SLX4):c.1800G>A (p.Pro600=) rs777829533
NM_032444.4(SLX4):c.1808C>G (p.Ser603Trp)
NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)
NM_032444.4(SLX4):c.1824G>T (p.Glu608Asp) rs1028896815
NM_032444.4(SLX4):c.183G>A (p.Arg61=) rs2040815577
NM_032444.4(SLX4):c.1844T>C (p.Leu615Pro)
NM_032444.4(SLX4):c.1851C>T (p.Asp617=) rs754155444
NM_032444.4(SLX4):c.1857G>C (p.Ala619=) rs375786206
NM_032444.4(SLX4):c.1860G>A (p.Arg620=)
NM_032444.4(SLX4):c.1868del (p.Leu623fs)
NM_032444.4(SLX4):c.186G>A (p.Val62=)
NM_032444.4(SLX4):c.1880C>T (p.Pro627Leu) rs774683778
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs) rs1266198754
NM_032444.4(SLX4):c.1881G>T (p.Pro627=)
NM_032444.4(SLX4):c.1887C>A (p.Pro629=)
NM_032444.4(SLX4):c.1887C>T (p.Pro629=) rs762862604
NM_032444.4(SLX4):c.1892G>C (p.Ser631Thr) rs2151129871
NM_032444.4(SLX4):c.1893T>C (p.Ser631=)
NM_032444.4(SLX4):c.1893T>G (p.Ser631Arg)
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val) rs1056085
NM_032444.4(SLX4):c.189A>G (p.Lys63=)
NM_032444.4(SLX4):c.1904C>A (p.Ala635Asp)
NM_032444.4(SLX4):c.1911G>A (p.Ser637=) rs200013924
NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)
NM_032444.4(SLX4):c.1913A>C (p.Glu638Ala)
NM_032444.4(SLX4):c.1917G>A (p.Gly639=) rs933524149
NM_032444.4(SLX4):c.1917G>T (p.Gly639=)
NM_032444.4(SLX4):c.1920T>C (p.Thr640=)
NM_032444.4(SLX4):c.1924+11G>T rs2151129785
NM_032444.4(SLX4):c.1924+13G>C
NM_032444.4(SLX4):c.1924+8G>A
NM_032444.4(SLX4):c.1925-19C>T
NM_032444.4(SLX4):c.1925-3C>T rs1567172965
NM_032444.4(SLX4):c.1925-4T>C rs2040644472
NM_032444.4(SLX4):c.1928T>C (p.Leu643Ser) rs2151129378
NM_032444.4(SLX4):c.1929G>A (p.Leu643=) rs778062467
NM_032444.4(SLX4):c.192A>C (p.Lys64Asn) rs756720856
NM_032444.4(SLX4):c.1948C>T (p.Leu650Phe)
NM_032444.4(SLX4):c.1957_1960del (p.Thr653fs)
NM_032444.4(SLX4):c.1964T>C (p.Phe655Ser) rs1567172921
NM_032444.4(SLX4):c.1965T>C (p.Phe655=) rs2151129331
NM_032444.4(SLX4):c.1969G>T (p.Val657Leu)
NM_032444.4(SLX4):c.1991C>A (p.Pro664Gln)
NM_032444.4(SLX4):c.1998G>A (p.Arg666=) rs1596525936
NM_032444.4(SLX4):c.2001C>T (p.Gly667=)
NM_032444.4(SLX4):c.2002G>A (p.Gly668Ser)
NM_032444.4(SLX4):c.2004C>G (p.Gly668=)
NM_032444.4(SLX4):c.2013+18C>T
NM_032444.4(SLX4):c.2013+225_3147delinsCC
NM_032444.4(SLX4):c.2013+2T>C
NM_032444.4(SLX4):c.2013+5G>T
NM_032444.4(SLX4):c.2013+6A>C rs2151129261
NM_032444.4(SLX4):c.2014-10C>T
NM_032444.4(SLX4):c.2014-10_2014-8del rs759422070
NM_032444.4(SLX4):c.2014-15C>T
NM_032444.4(SLX4):c.2014-17C>T
NM_032444.4(SLX4):c.2014-3C>T
NM_032444.4(SLX4):c.2014C>T (p.Leu672Phe)
NM_032444.4(SLX4):c.2023G>C (p.Gly675Arg) rs767473953
NM_032444.4(SLX4):c.2026C>T (p.Leu676=)
NM_032444.4(SLX4):c.2027T>C (p.Leu676Pro)
NM_032444.4(SLX4):c.202A>G (p.Lys68Glu)
NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)
NM_032444.4(SLX4):c.2045G>T (p.Gly682Val) rs765804056
NM_032444.4(SLX4):c.2046C>A (p.Gly682=)
NM_032444.4(SLX4):c.2047G>C (p.Ala683Pro) rs115866745
NM_032444.4(SLX4):c.2054T>G (p.Val685Gly)
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser) rs571330689
NM_032444.4(SLX4):c.2072G>A (p.Ser691Asn) rs1596525216
NM_032444.4(SLX4):c.207A>G (p.Glu69=) rs2040815069
NM_032444.4(SLX4):c.208G>C (p.Val70Leu)
NM_032444.4(SLX4):c.2091G>A (p.Thr697=)
NM_032444.4(SLX4):c.2093A>C (p.Asp698Ala)
NM_032444.4(SLX4):c.2117A>T (p.His706Leu) rs2151128459
NM_032444.4(SLX4):c.2120A>G (p.Lys707Arg) rs1555450869
NM_032444.4(SLX4):c.2139A>G (p.Arg713=) rs2151128422
NM_032444.4(SLX4):c.2142C>T (p.Cys714=)
NM_032444.4(SLX4):c.2145G>A (p.Pro715=)
NM_032444.4(SLX4):c.2148C>T (p.Leu716=)
NM_032444.4(SLX4):c.2150T>C (p.Leu717Pro) rs1596525067
NM_032444.4(SLX4):c.2160+11G>A
NM_032444.4(SLX4):c.2160+19G>A rs759835803
NM_032444.4(SLX4):c.2160+8C>A
NM_032444.4(SLX4):c.2160+9G>A
NM_032444.4(SLX4):c.2160T>C (p.Tyr720=)
NM_032444.4(SLX4):c.2161-2A>T rs2151127331
NM_032444.4(SLX4):c.2161-4G>T
NM_032444.4(SLX4):c.2161-6C>A rs2151127337
NM_032444.4(SLX4):c.2168A>G (p.Asn723Ser) rs2151127319
NM_032444.4(SLX4):c.2175C>A (p.Gly725=) rs1455889621
NM_032444.4(SLX4):c.2175C>T (p.Gly725=)
NM_032444.4(SLX4):c.2185G>A (p.Val729Ile)
NM_032444.4(SLX4):c.2187A>G (p.Val729=) rs2040609293
NM_032444.4(SLX4):c.2190G>A (p.Glu730=)
NM_032444.4(SLX4):c.2191G>A (p.Asp731Asn)
NM_032444.4(SLX4):c.2194G>A (p.Gly732Arg) rs202189103
NM_032444.4(SLX4):c.2197G>C (p.Val733Leu) rs1555450668
NM_032444.4(SLX4):c.2205C>T (p.Thr735=) rs2151127266
NM_032444.4(SLX4):c.2209C>T (p.Arg737Cys) rs140706384
NM_032444.4(SLX4):c.2217G>A (p.Leu739=) rs1596523977
NM_032444.4(SLX4):c.2222G>A (p.Gly741Asp)
NM_032444.4(SLX4):c.2223T>A (p.Gly741=) rs777278153
NM_032444.4(SLX4):c.2223T>G (p.Gly741=) rs777278153
NM_032444.4(SLX4):c.2231G>A (p.Ser744Asn) rs1307528536
NM_032444.4(SLX4):c.2246G>T (p.Arg749Leu)
NM_032444.4(SLX4):c.2250G>A (p.Thr750=)
NM_032444.4(SLX4):c.2251T>G (p.Phe751Val)
NM_032444.4(SLX4):c.2261A>G (p.Tyr754Cys) rs771002901
NM_032444.4(SLX4):c.2264T>C (p.Leu755Pro)
NM_032444.4(SLX4):c.2278A>G (p.Thr760Ala) rs2040607353
NM_032444.4(SLX4):c.230A>G (p.Gln77Arg)
NM_032444.4(SLX4):c.2327+10G>C
NM_032444.4(SLX4):c.2327+15C>T
NM_032444.4(SLX4):c.2328-10C>T
NM_032444.4(SLX4):c.2328-11T>C rs1390856264
NM_032444.4(SLX4):c.2328-11T>G
NM_032444.4(SLX4):c.2328-17G>C
NM_032444.4(SLX4):c.2328-20G>A
NM_032444.4(SLX4):c.2328-9G>A rs73505419
NM_032444.4(SLX4):c.2335G>C (p.Val779Leu) rs768126392
NM_032444.4(SLX4):c.2347G>A (p.Val783Ile) rs771580450
NM_032444.4(SLX4):c.2357G>A (p.Cys786Tyr) rs1282868817
NM_032444.4(SLX4):c.2358C>T (p.Cys786=)
NM_032444.4(SLX4):c.2363A>G (p.Gln788Arg)
NM_032444.4(SLX4):c.2363A>T (p.Gln788Leu) rs748659860
NM_032444.4(SLX4):c.2364G>A (p.Gln788=)
NM_032444.4(SLX4):c.2364G>C (p.Gln788His)
NM_032444.4(SLX4):c.2368C>T (p.Pro790Ser)
NM_032444.4(SLX4):c.2371A>G (p.Ile791Val) rs1422973391
NM_032444.4(SLX4):c.2372T>G (p.Ile791Ser) rs2040591427
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter) rs2151126006
NM_032444.4(SLX4):c.2388G>A (p.Glu796=) rs113965715
NM_032444.4(SLX4):c.2391C>A (p.Gly797=) rs147208178
NM_032444.4(SLX4):c.2391C>T (p.Gly797=)
NM_032444.4(SLX4):c.2401GAG[1] (p.Glu802del) rs2151125964
NM_032444.4(SLX4):c.2409G>A (p.Lys803=)
NM_032444.4(SLX4):c.2416G>C (p.Glu806Gln)
NM_032444.4(SLX4):c.2418G>T (p.Glu806Asp) rs2151125944
NM_032444.4(SLX4):c.2430C>T (p.Ser810=)
NM_032444.4(SLX4):c.2435C>T (p.Ala812Val)
NM_032444.4(SLX4):c.2436C>G (p.Ala812=) rs769330696
NM_032444.4(SLX4):c.2441A>G (p.Asn814Ser) rs777299783
NM_032444.4(SLX4):c.2449del (p.Glu817fs) rs1567170994
NM_032444.4(SLX4):c.2451A>C (p.Glu817Asp)
NM_032444.4(SLX4):c.2460G>A (p.Arg820=)
NM_032444.4(SLX4):c.2473G>T (p.Asp825Tyr)
NM_032444.4(SLX4):c.2478_2480del (p.Glu829del)
NM_032444.4(SLX4):c.2480A>G (p.Glu827Gly) rs1488400493
NM_032444.4(SLX4):c.2481G>A (p.Glu827=) rs746049343
NM_032444.4(SLX4):c.248G>A (p.Gly83Asp)
NM_032444.4(SLX4):c.248G>C (p.Gly83Ala) rs771698977
NM_032444.4(SLX4):c.2494A>G (p.Thr832Ala) rs1345752601
NM_032444.4(SLX4):c.2510A>G (p.Lys837Arg) rs2151125769
NM_032444.4(SLX4):c.2517C>G (p.His839Gln)
NM_032444.4(SLX4):c.2520AGA[1] (p.Glu841del) rs2151125733
NM_032444.4(SLX4):c.2535C>A (p.Asn845Lys)
NM_032444.4(SLX4):c.2535C>T (p.Asn845=) rs1174692641
NM_032444.4(SLX4):c.2536G>A (p.Val846Met)
NM_032444.4(SLX4):c.254A>G (p.Gln85Arg) rs878855160
NM_032444.4(SLX4):c.2553G>A (p.Met851Ile) rs2040587848
NM_032444.4(SLX4):c.255G>A (p.Gln85=)
NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)
NM_032444.4(SLX4):c.256A>T (p.Ile86Leu)
NM_032444.4(SLX4):c.2576C>G (p.Ala859Gly)
NM_032444.4(SLX4):c.2577T>C (p.Ala859=)
NM_032444.4(SLX4):c.2586A>G (p.Arg862=)
NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del) rs536289991
NM_032444.4(SLX4):c.2594_2595del (p.Leu865fs)
NM_032444.4(SLX4):c.2616T>C (p.Gly872=)
NM_032444.4(SLX4):c.2619C>T (p.Ala873=)
NM_032444.4(SLX4):c.2620G>C (p.Gly874Arg) rs113420526
NM_032444.4(SLX4):c.2621G>T (p.Gly874Val)
NM_032444.4(SLX4):c.2622C>G (p.Gly874=) rs1407514660
NM_032444.4(SLX4):c.2622C>T (p.Gly874=)
NM_032444.4(SLX4):c.2625G>A (p.Glu875=)
NM_032444.4(SLX4):c.2635_2636insA (p.Trp879Ter) rs2151125489
NM_032444.4(SLX4):c.2637G>C (p.Trp879Cys) rs1276786771
NM_032444.4(SLX4):c.264C>T (p.Ser88=)
NM_032444.4(SLX4):c.2650A>G (p.Ser884Gly)
NM_032444.4(SLX4):c.2666A>G (p.Gln889Arg)
NM_032444.4(SLX4):c.2670C>T (p.Leu890=)
NM_032444.4(SLX4):c.2675C>T (p.Ala892Val) rs1368217140
NM_032444.4(SLX4):c.2688G>A (p.Val896=) rs758166923
NM_032444.4(SLX4):c.2706G>A (p.Lys902=) rs764936885
NM_032444.4(SLX4):c.2706G>T (p.Lys902Asn)
NM_032444.4(SLX4):c.2709G>A (p.Val903=)
NM_032444.4(SLX4):c.2710GAG[1] (p.Glu905del) rs1292828765
NM_032444.4(SLX4):c.2719G>C (p.Glu907Gln) rs1408881754
NM_032444.4(SLX4):c.2720A>G (p.Glu907Gly)
NM_032444.4(SLX4):c.2721G>A (p.Glu907=) rs141450907
NM_032444.4(SLX4):c.2721G>T (p.Glu907Asp) rs141450907
NM_032444.4(SLX4):c.2723C>T (p.Pro908Leu)
NM_032444.4(SLX4):c.2728G>C (p.Glu910Gln) rs2151125290
NM_032444.4(SLX4):c.2730G>A (p.Glu910=)
NM_032444.4(SLX4):c.2731C>G (p.Pro911Ala) rs2151125280
NM_032444.4(SLX4):c.2736A>G (p.Gly912=) rs1162992846
NM_032444.4(SLX4):c.273A>G (p.Lys91=)
NM_032444.4(SLX4):c.2742T>C (p.Asp914=) rs1060504342
NM_032444.4(SLX4):c.2742T>G (p.Asp914Glu) rs1060504342
NM_032444.4(SLX4):c.2746GCC[3] (p.Ala917dup) rs2151125227
NM_032444.4(SLX4):c.2747C>T (p.Ala916Val) rs2151125242
NM_032444.4(SLX4):c.2748C>G (p.Ala916=)
NM_032444.4(SLX4):c.2748C>T (p.Ala916=) rs374815885
NM_032444.4(SLX4):c.2757C>A (p.Thr919=) rs2151125207
NM_032444.4(SLX4):c.2766G>T (p.Lys922Asn)
NM_032444.4(SLX4):c.2775G>A (p.Gln925=)
NM_032444.4(SLX4):c.2777G>A (p.Cys926Tyr)
NM_032444.4(SLX4):c.2789C>G (p.Pro930Arg)
NM_032444.4(SLX4):c.278C>T (p.Thr93Ile) rs2151139524
NM_032444.4(SLX4):c.2793_2805del (p.Gln934fs)
NM_032444.4(SLX4):c.2800del (p.Gln934fs)
NM_032444.4(SLX4):c.2808A>G (p.Ser936=) rs762090546
NM_032444.4(SLX4):c.2808A>T (p.Ser936=)
NM_032444.4(SLX4):c.2812G>C (p.Ala938Pro) rs2151125038
NM_032444.4(SLX4):c.2815C>T (p.Arg939Trp)
NM_032444.4(SLX4):c.2816G>C (p.Arg939Pro) rs768474876
NM_032444.4(SLX4):c.2820A>G (p.Gly940=) rs2151125020
NM_032444.4(SLX4):c.2821G>A (p.Ala941Thr)
NM_032444.4(SLX4):c.2825A>T (p.Glu942Val) rs2040579815
NM_032444.4(SLX4):c.2826G>A (p.Glu942=) rs2040579766
NM_032444.4(SLX4):c.2827G>A (p.Ala943Thr)
NM_032444.4(SLX4):c.2833G>A (p.Glu945Lys)
NM_032444.4(SLX4):c.2835G>C (p.Glu945Asp) rs2040579474
NM_032444.4(SLX4):c.2846C>T (p.Pro949Leu)
NM_032444.4(SLX4):c.2851G>A (p.Glu951Lys) rs1555450353
NM_032444.4(SLX4):c.2854_2855delinsAT (p.Ala952Met) rs863224277
NM_032444.4(SLX4):c.2854_2856delinsATA (p.Ala952Ile) rs2040578747
NM_032444.4(SLX4):c.2857C>G (p.Leu953Val) rs1185482904
NM_032444.4(SLX4):c.2860G>A (p.Gly954Ser)
NM_032444.4(SLX4):c.286del (p.Thr96fs) rs1596534281
NM_032444.4(SLX4):c.2877C>T (p.Ser959=)
NM_032444.4(SLX4):c.2881C>A (p.Pro961Thr) rs2151124871
NM_032444.4(SLX4):c.2882C>T (p.Pro961Leu) rs886051978
NM_032444.4(SLX4):c.289G>A (p.Ala97Thr) rs2040813930
NM_032444.4(SLX4):c.2901A>C (p.Ala967=)
NM_032444.4(SLX4):c.2912_2913delinsGC (p.Glu971Gly) rs2151124807
NM_032444.4(SLX4):c.2914G>A (p.Gly972Ser)
NM_032444.4(SLX4):c.2915G>A (p.Gly972Asp) rs2151124801
NM_032444.4(SLX4):c.2919T>C (p.Ser973=) rs2151124792
NM_032444.4(SLX4):c.2927A>G (p.His976Arg) rs141294497
NM_032444.4(SLX4):c.2943G>T (p.Gly981=)
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr) rs753733757
NM_032444.4(SLX4):c.2960T>C (p.Phe987Ser) rs2040576468
NM_032444.4(SLX4):c.2961C>T (p.Phe987=)
NM_032444.4(SLX4):c.2972A>G (p.Gln991Arg)
NM_032444.4(SLX4):c.2974_2977del (p.Gly992fs) rs2151124655
NM_032444.4(SLX4):c.2978A>G (p.Glu993Gly) rs759599459
NM_032444.4(SLX4):c.2993C>T (p.Ser998Phe)
NM_032444.4(SLX4):c.299C>A (p.Thr100Asn) rs201163062
NM_032444.4(SLX4):c.3001A>G (p.Thr1001Ala) rs769494671
NM_032444.4(SLX4):c.3002C>T (p.Thr1001Ile)
NM_032444.4(SLX4):c.3013G>A (p.Glu1005Lys) rs746178364
NM_032444.4(SLX4):c.3018A>G (p.Glu1006=) rs1596522113
NM_032444.4(SLX4):c.3027C>T (p.Gly1009=) rs1278706933
NM_032444.4(SLX4):c.3033C>T (p.Val1011=) rs867272668
NM_032444.4(SLX4):c.3034A>G (p.Arg1012Gly)
NM_032444.4(SLX4):c.3044G>A (p.Gly1015Glu) rs2151124497
NM_032444.4(SLX4):c.3045G>A (p.Gly1015=) rs1334575564
NM_032444.4(SLX4):c.3046C>T (p.Leu1016=) rs141412644
NM_032444.4(SLX4):c.3049G>A (p.Glu1017Lys)
NM_032444.4(SLX4):c.3051G>A (p.Glu1017=) rs1306302241
NM_032444.4(SLX4):c.3052G>A (p.Val1018Ile) rs948861318
NM_032444.4(SLX4):c.3059A>G (p.His1020Arg) rs2151124446
NM_032444.4(SLX4):c.3062G>A (p.Arg1021His)
NM_032444.4(SLX4):c.306C>G (p.Thr102=) rs752275926
NM_032444.4(SLX4):c.3073T>C (p.Trp1025Arg)
NM_032444.4(SLX4):c.3079G>T (p.Ala1027Ser)
NM_032444.4(SLX4):c.307del (p.Leu103fs)
NM_032444.4(SLX4):c.3081A>T (p.Ala1027=) rs2151124384
NM_032444.4(SLX4):c.3087A>G (p.Pro1029=)
NM_032444.4(SLX4):c.3090G>T (p.Pro1030=) rs771531829
NM_032444.4(SLX4):c.3101G>T (p.Arg1034Leu)
NM_032444.4(SLX4):c.3126C>T (p.Gly1042=)
NM_032444.4(SLX4):c.312A>C (p.Gln104His)
NM_032444.4(SLX4):c.3142T>A (p.Ser1048Thr)
NM_032444.4(SLX4):c.3144_3148del (p.His1050fs)
NM_032444.4(SLX4):c.3157G>A (p.Gly1053Arg)
NM_032444.4(SLX4):c.3159G>C (p.Gly1053=) rs1344092780
NM_032444.4(SLX4):c.315C>T (p.Gly105=) rs558641534
NM_032444.4(SLX4):c.3161C>T (p.Ser1054Leu)
NM_032444.4(SLX4):c.3162G>C (p.Ser1054=) rs76488917
NM_032444.4(SLX4):c.3174A>G (p.Thr1058=) rs780024295
NM_032444.4(SLX4):c.3179G>C (p.Arg1060Pro) rs199994766
NM_032444.4(SLX4):c.317C>T (p.Pro106Leu) rs2151139456
NM_032444.4(SLX4):c.3180G>A (p.Arg1060=) rs747169328
NM_032444.4(SLX4):c.3180G>C (p.Arg1060=) rs747169328
NM_032444.4(SLX4):c.3182C>T (p.Ser1061Phe) rs2151124127
NM_032444.4(SLX4):c.3185G>A (p.Arg1062His)
NM_032444.4(SLX4):c.3191G>T (p.Gly1064Val)
NM_032444.4(SLX4):c.3200A>G (p.Gln1067Arg) rs2040570986
NM_032444.4(SLX4):c.3209C>G (p.Ser1070Cys) rs2040570774
NM_032444.4(SLX4):c.3209C>T (p.Ser1070Phe) rs2040570774
NM_032444.4(SLX4):c.320C>T (p.Ala107Val) rs2040813512
NM_032444.4(SLX4):c.3214A>G (p.Thr1072Ala)
NM_032444.4(SLX4):c.3215C>T (p.Thr1072Ile)
NM_032444.4(SLX4):c.3224C>T (p.Ser1075Phe) rs147558074
NM_032444.4(SLX4):c.3226C>A (p.Pro1076Thr) rs2151124007
NM_032444.4(SLX4):c.3226C>G (p.Pro1076Ala) rs2151124007
NM_032444.4(SLX4):c.3237A>G (p.Pro1079=)
NM_032444.4(SLX4):c.3237A>T (p.Pro1079=) rs145055283
NM_032444.4(SLX4):c.3239C>G (p.Ser1080Ter) rs2151123968
NM_032444.4(SLX4):c.3251G>C (p.Arg1084Thr)
NM_032444.4(SLX4):c.3254A>G (p.Asp1085Gly)
NM_032444.4(SLX4):c.3263T>C (p.Ile1088Thr)
NM_032444.4(SLX4):c.3268A>G (p.Thr1090Ala)
NM_032444.4(SLX4):c.3270G>A (p.Thr1090=)
NM_032444.4(SLX4):c.3282del (p.Glu1094fs) rs2151123906
NM_032444.4(SLX4):c.3306G>A (p.Glu1102=) rs2151123871
NM_032444.4(SLX4):c.3311G>A (p.Arg1104Gln)
NM_032444.4(SLX4):c.3313T>A (p.Ser1105Thr) rs2151123849
NM_032444.4(SLX4):c.3319C>T (p.Leu1107=)
NM_032444.4(SLX4):c.3326G>A (p.Cys1109Tyr)
NM_032444.4(SLX4):c.332C>T (p.Pro111Leu) rs765630089
NM_032444.4(SLX4):c.3334A>C (p.Lys1112Gln) rs570382990
NM_032444.4(SLX4):c.3334A>G (p.Lys1112Glu) rs570382990
NM_032444.4(SLX4):c.3337G>C (p.Gly1113Arg) rs772246820
NM_032444.4(SLX4):c.3338_3340del (p.Gly1113del) rs2151123784
NM_032444.4(SLX4):c.3344T>C (p.Leu1115Pro) rs2040568630
NM_032444.4(SLX4):c.3345G>A (p.Leu1115=) rs374238222
NM_032444.4(SLX4):c.3350T>A (p.Phe1117Tyr) rs1596521648
NM_032444.4(SLX4):c.3353C>T (p.Pro1118Leu) rs1567170196
NM_032444.4(SLX4):c.3360A>G (p.Lys1120=)
NM_032444.4(SLX4):c.3361T>C (p.Ser1121Pro)
NM_032444.4(SLX4):c.3362C>T (p.Ser1121Phe) rs1060501792
NM_032444.4(SLX4):c.3364C>G (p.Pro1122Ala)
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=) rs752209638
NM_032444.4(SLX4):c.336G>T (p.Pro112=)
NM_032444.4(SLX4):c.3370A>T (p.Ile1124Phe)
NM_032444.4(SLX4):c.3373G>A (p.Asp1125Asn)
NM_032444.4(SLX4):c.3380C>T (p.Thr1127Ile)
NM_032444.4(SLX4):c.3383A>C (p.Gln1128Pro)
NM_032444.4(SLX4):c.3398A>G (p.His1133Arg)
NM_032444.4(SLX4):c.3399T>C (p.His1133=)
NM_032444.4(SLX4):c.33C>T (p.Gly11=) rs1274120704
NM_032444.4(SLX4):c.3401C>T (p.Ser1134Leu) rs1433489753
NM_032444.4(SLX4):c.3405C>A (p.Ser1135Arg)
NM_032444.4(SLX4):c.3416A>G (p.Gln1139Arg) rs2151123634
NM_032444.4(SLX4):c.3420A>G (p.Lys1140=)
NM_032444.4(SLX4):c.3423T>C (p.Ser1141=) rs1596521552
NM_032444.4(SLX4):c.3424T>C (p.Ser1142Pro) rs1400414235
NM_032444.4(SLX4):c.3425C>T (p.Ser1142Leu) rs967412461
NM_032444.4(SLX4):c.3427T>G (p.Ser1143Ala) rs1567170136
NM_032444.4(SLX4):c.342C>G (p.Gly114=)
NM_032444.4(SLX4):c.3434T>C (p.Leu1145Pro) rs759560028
NM_032444.4(SLX4):c.3438C>A (p.Asn1146Lys)
NM_032444.4(SLX4):c.343A>C (p.Ser115Arg) rs959148678
NM_032444.4(SLX4):c.3441A>G (p.Glu1147=)
NM_032444.4(SLX4):c.3441AGA[1] (p.Glu1148del)
NM_032444.4(SLX4):c.3442G>C (p.Glu1148Gln)
NM_032444.4(SLX4):c.3444A>C (p.Glu1148Asp) rs771079071
NM_032444.4(SLX4):c.3444A>T (p.Glu1148Asp) rs771079071
NM_032444.4(SLX4):c.3446A>G (p.Asp1149Gly) rs2040566610
NM_032444.4(SLX4):c.3451G>A (p.Val1151Ile) rs1060501796
NM_032444.4(SLX4):c.345C>T (p.Ser115=) rs1442020030
NM_032444.4(SLX4):c.3475G>A (p.Glu1159Lys)
NM_032444.4(SLX4):c.3477G>C (p.Glu1159Asp) rs1349173708
NM_032444.4(SLX4):c.3480G>A (p.Glu1160=)
NM_032444.4(SLX4):c.3492A>C (p.Glu1164Asp) rs1324916025
NM_032444.4(SLX4):c.3497C>A (p.Thr1166Asn)
NM_032444.4(SLX4):c.349G>A (p.Ala117Thr)
NM_032444.4(SLX4):c.3502A>G (p.Met1168Val)
NM_032444.4(SLX4):c.3506A>C (p.Lys1169Thr)
NM_032444.4(SLX4):c.3522T>A (p.Asp1174Glu) rs2151123437
NM_032444.4(SLX4):c.3528G>A (p.Leu1176=)
NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)
NM_032444.4(SLX4):c.352C>G (p.Pro118Ala) rs1264184614
NM_032444.4(SLX4):c.354T>C (p.Pro118=)
NM_032444.4(SLX4):c.3555C>T (p.Ser1185=)
NM_032444.4(SLX4):c.3561G>A (p.Arg1187=) rs2151123357
NM_032444.4(SLX4):c.3571C>T (p.Leu1191=)
NM_032444.4(SLX4):c.3573G>C (p.Leu1191=)
NM_032444.4(SLX4):c.3582C>A (p.Ile1194=)
NM_032444.4(SLX4):c.3584T>C (p.Ile1195Thr) rs757575928
NM_032444.4(SLX4):c.358A>G (p.Thr120Ala) rs1003342051
NM_032444.4(SLX4):c.3599A>T (p.Asp1200Val) rs1165195894
NM_032444.4(SLX4):c.3600T>C (p.Asp1200=)
NM_032444.4(SLX4):c.3607C>A (p.Pro1203Thr) rs745508761
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala) rs745508761
NM_032444.4(SLX4):c.360T>C (p.Thr120=) rs886051982
NM_032444.4(SLX4):c.3619_3643del (p.Pro1207fs) rs1440022090
NM_032444.4(SLX4):c.3623C>T (p.Pro1208Leu)
NM_032444.4(SLX4):c.3626G>A (p.Arg1209Lys)
NM_032444.4(SLX4):c.3630C>T (p.Ser1210=) rs1567169951
NM_032444.4(SLX4):c.363_365del (p.Lys122del) rs2151139354
NM_032444.4(SLX4):c.3640C>T (p.Leu1214=)
NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)
NM_032444.4(SLX4):c.3651G>A (p.Glu1217=)
NM_032444.4(SLX4):c.3654T>C (p.Asp1218=) rs2151123167
NM_032444.4(SLX4):c.3658G>A (p.Gly1220Arg) rs1160985971
NM_032444.4(SLX4):c.3661_3662delinsTT (p.Ala1221Leu)
NM_032444.4(SLX4):c.3666G>A (p.Leu1222=) rs2151123132
NM_032444.4(SLX4):c.366G>A (p.Lys122=) rs149626570
NM_032444.4(SLX4):c.366G>C (p.Lys122Asn) rs149626570
NM_032444.4(SLX4):c.3670G>C (p.Glu1224Gln) rs2151123121
NM_032444.4(SLX4):c.3678G>C (p.Arg1226=)
NM_032444.4(SLX4):c.3681C>T (p.Gly1227=)
NM_032444.4(SLX4):c.3686T>C (p.Leu1229Ser)
NM_032444.4(SLX4):c.3700G>T (p.Ala1234Ser) rs1555450127
NM_032444.4(SLX4):c.370A>G (p.Arg124Gly)
NM_032444.4(SLX4):c.3711G>C (p.Leu1237=)
NM_032444.4(SLX4):c.3715T>C (p.Cys1239Arg) rs2151122998
NM_032444.4(SLX4):c.3720C>T (p.Asp1240=)
NM_032444.4(SLX4):c.3722G>C (p.Arg1241Pro)
NM_032444.4(SLX4):c.3724G>A (p.Glu1242Lys)
NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter) rs770687847
NM_032444.4(SLX4):c.3726G>A (p.Glu1242=) rs2040561177
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs) rs878855162
NM_032444.4(SLX4):c.3727A>G (p.Ser1243Gly)
NM_032444.4(SLX4):c.3728G>A (p.Ser1243Asn)
NM_032444.4(SLX4):c.3731del (p.Ser1244fs)
NM_032444.4(SLX4):c.3734C>T (p.Pro1245Leu)
NM_032444.4(SLX4):c.3739G>C (p.Glu1247Gln)
NM_032444.4(SLX4):c.3743C>T (p.Ala1248Val)
NM_032444.4(SLX4):c.374T>C (p.Val125Ala)
NM_032444.4(SLX4):c.3751A>G (p.Thr1251Ala) rs1596521026
NM_032444.4(SLX4):c.3768G>A (p.Leu1256=) rs757548615
NM_032444.4(SLX4):c.3773C>G (p.Pro1258Arg)
NM_032444.4(SLX4):c.3783G>T (p.Pro1261=) rs77699867
NM_032444.4(SLX4):c.3784C>G (p.Leu1262Val)
NM_032444.4(SLX4):c.3786G>A (p.Leu1262=) rs1555450110
NM_032444.4(SLX4):c.3807T>C (p.Cys1269=)
NM_032444.4(SLX4):c.380A>T (p.Lys127Ile)
NM_032444.4(SLX4):c.3825C>T (p.Ile1275=)
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn) rs1596520868
NM_032444.4(SLX4):c.3832C>T (p.Leu1278Phe) rs2151122691
NM_032444.4(SLX4):c.383G>A (p.Trp128Ter) rs1193906930
NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu) rs766299864
NM_032444.4(SLX4):c.3848C>T (p.Ala1283Val) rs140103960
NM_032444.4(SLX4):c.3849C>G (p.Ala1283=) rs200928592
NM_032444.4(SLX4):c.3849C>T (p.Ala1283=) rs200928592
NM_032444.4(SLX4):c.3850G>T (p.Val1284Leu) rs373107728
NM_032444.4(SLX4):c.3852G>A (p.Val1284=) rs2151122647
NM_032444.4(SLX4):c.3856G>A (p.Ala1286Thr)
NM_032444.4(SLX4):c.3863C>G (p.Thr1288Ser) rs1060501799
NM_032444.4(SLX4):c.3866A>G (p.Gln1289Arg)
NM_032444.4(SLX4):c.3868C>T (p.His1290Tyr) rs112596894
NM_032444.4(SLX4):c.388G>A (p.Ala130Thr) rs2040812493
NM_032444.4(SLX4):c.3890G>A (p.Gly1297Glu)
NM_032444.4(SLX4):c.38A>G (p.Tyr13Cys)
NM_032444.4(SLX4):c.3900A>G (p.Glu1300=) rs1060504341
NM_032444.4(SLX4):c.3902G>T (p.Gly1301Val) rs1307466531
NM_032444.4(SLX4):c.3903G>T (p.Gly1301=) rs753464234
NM_032444.4(SLX4):c.3906del (p.Asn1302fs)
NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter) rs2040557100
NM_032444.4(SLX4):c.3918G>T (p.Gln1306His)
NM_032444.4(SLX4):c.3919_3921del (p.Lys1307del) rs775548839
NM_032444.4(SLX4):c.392G>A (p.Ser131Asn) rs2040812388
NM_032444.4(SLX4):c.3934A>G (p.Arg1312Gly)
NM_032444.4(SLX4):c.3939C>G (p.Pro1313=)
NM_032444.4(SLX4):c.3939C>T (p.Pro1313=)
NM_032444.4(SLX4):c.3946C>A (p.Pro1316Thr)
NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del) rs1302525912
NM_032444.4(SLX4):c.3948_3962dup (p.Pro1317_Pro1321dup) rs1302525912
NM_032444.4(SLX4):c.3952C>T (p.Pro1318Ser)
NM_032444.4(SLX4):c.3952_3963del (p.Pro1318_Pro1321del) rs771773313
NM_032444.4(SLX4):c.3954C>G (p.Pro1318=)
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter) rs2040556390
NM_032444.4(SLX4):c.3958A>T (p.Thr1320Ser) rs1060501797
NM_032444.4(SLX4):c.3960A>G (p.Thr1320=)
NM_032444.4(SLX4):c.3961_3962dup (p.Ser1322fs)
NM_032444.4(SLX4):c.3965C>T (p.Ser1322Phe)
NM_032444.4(SLX4):c.396A>G (p.Glu132=) rs2151139288
NM_032444.4(SLX4):c.3970T>G (p.Cys1324Gly)
NM_032444.4(SLX4):c.3973C>G (p.Leu1325Val) rs2151122362
NM_032444.4(SLX4):c.3973C>T (p.Leu1325Phe)
NM_032444.4(SLX4):c.3983_4115del (p.Val1328fs) rs2151122078
NM_032444.4(SLX4):c.3990A>C (p.Pro1330=) rs2151122324
NM_032444.4(SLX4):c.399G>A (p.Pro133=)
NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)
NM_032444.4(SLX4):c.4002C>A (p.Asp1334Glu) rs201826765
NM_032444.4(SLX4):c.4003G>A (p.Gly1335Ser) rs367562934
NM_032444.4(SLX4):c.4003G>T (p.Gly1335Cys) rs367562934
NM_032444.4(SLX4):c.4004G>T (p.Gly1335Val)
NM_032444.4(SLX4):c.4011G>A (p.Arg1337=) rs1487018930
NM_032444.4(SLX4):c.4013A>G (p.Gln1338Arg) rs2040554954
NM_032444.4(SLX4):c.4016G>A (p.Gly1339Asp) rs2040554845
NM_032444.4(SLX4):c.4020C>T (p.His1340=) rs768829231
NM_032444.4(SLX4):c.4024del (p.Ser1342fs)
NM_032444.4(SLX4):c.4036C>T (p.Pro1346Ser) rs2040554159
NM_032444.4(SLX4):c.4044C>T (p.Pro1348=) rs1332165366
NM_032444.4(SLX4):c.4044_4045insCAGCGGAGA (p.Pro1348_Gly1349insGlnArgArg) rs2151122205
NM_032444.4(SLX4):c.4045G>A (p.Gly1349Arg)
NM_032444.4(SLX4):c.4049G>A (p.Gly1350Asp)
NM_032444.4(SLX4):c.4055C>G (p.Pro1352Arg)
NM_032444.4(SLX4):c.4056G>T (p.Pro1352=)
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.4057C>T (p.His1353Tyr) rs142205392
NM_032444.4(SLX4):c.4067C>A (p.Pro1356Gln) rs764254888
NM_032444.4(SLX4):c.4069C>T (p.Leu1357=)
NM_032444.4(SLX4):c.4075C>T (p.Pro1359Ser)
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter) rs1596520443
NM_032444.4(SLX4):c.4098C>G (p.Arg1366=) rs770811758
NM_032444.4(SLX4):c.40T>C (p.Leu14=)
NM_032444.4(SLX4):c.4114C>T (p.Arg1372Trp)
NM_032444.4(SLX4):c.4122G>A (p.Leu1374=)
NM_032444.4(SLX4):c.4129T>G (p.Ser1377Ala)
NM_032444.4(SLX4):c.4130C>G (p.Ser1377Trp) rs770241338
NM_032444.4(SLX4):c.4133del (p.Pro1378fs) rs1174332682
NM_032444.4(SLX4):c.4135C>G (p.Pro1379Ala)
NM_032444.4(SLX4):c.414T>C (p.Asn138=) rs2151139252
NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter) rs1374549534
NM_032444.4(SLX4):c.4160C>A (p.Thr1387Asn)
NM_032444.4(SLX4):c.4162C>G (p.Pro1388Ala) rs1457147753
NM_032444.4(SLX4):c.4167G>A (p.Ala1389=) rs541433695
NM_032444.4(SLX4):c.416G>C (p.Gly139Ala)
NM_032444.4(SLX4):c.416G>T (p.Gly139Val)
NM_032444.4(SLX4):c.4171G>A (p.Glu1391Lys)
NM_032444.4(SLX4):c.4175TGG[1] (p.Val1393del) rs756477852
NM_032444.4(SLX4):c.4177G>C (p.Val1393Leu)
NM_032444.4(SLX4):c.4191C>A (p.Asp1397Glu)
NM_032444.4(SLX4):c.4191C>T (p.Asp1397=)
NM_032444.4(SLX4):c.4195G>T (p.Asp1399Tyr)
NM_032444.4(SLX4):c.4197C>G (p.Asp1399Glu) rs146079010
NM_032444.4(SLX4):c.4203G>A (p.Glu1401=)
NM_032444.4(SLX4):c.420G>A (p.Glu140=) rs753015235
NM_032444.4(SLX4):c.420G>T (p.Glu140Asp) rs753015235
NM_032444.4(SLX4):c.4219C>T (p.His1407Tyr)
NM_032444.4(SLX4):c.421G>C (p.Gly141Arg) rs137976282
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4229A>G (p.Asn1410Ser) rs1596520203
NM_032444.4(SLX4):c.4230C>G (p.Asn1410Lys)
NM_032444.4(SLX4):c.423G>T (p.Gly141=) rs111405249
NM_032444.4(SLX4):c.4245_4246delinsAA (p.Asp1416Asn) rs2040548229
NM_032444.4(SLX4):c.4250G>A (p.Ser1417Asn) rs1158558800
NM_032444.4(SLX4):c.4251T>C (p.Ser1417=)
NM_032444.4(SLX4):c.4255C>T (p.Pro1419Ser)
NM_032444.4(SLX4):c.4258C>G (p.Pro1420Ala) rs2151121708
NM_032444.4(SLX4):c.4258C>T (p.Pro1420Ser)
NM_032444.4(SLX4):c.4258_4259dup (p.Ile1421fs) rs781663547
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs) rs781663547
NM_032444.4(SLX4):c.425del (p.Gly142fs) rs757662453
NM_032444.4(SLX4):c.4264C>G (p.Pro1422Ala)
NM_032444.4(SLX4):c.4265C>T (p.Pro1422Leu)
NM_032444.4(SLX4):c.426T>A (p.Gly142=) rs377500336
NM_032444.4(SLX4):c.4270GAC[1] (p.Asp1425del) rs755109579
NM_032444.4(SLX4):c.427G>A (p.Val143Met)
NM_032444.4(SLX4):c.4280G>C (p.Cys1427Ser)
NM_032444.4(SLX4):c.4281C>T (p.Cys1427=) rs2151121647
NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter) rs1028935047
NM_032444.4(SLX4):c.4285C>T (p.His1429Tyr)
NM_032444.4(SLX4):c.4288A>G (p.Met1430Val)
NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)
NM_032444.4(SLX4):c.4293G>A (p.Glu1431=) rs2151121628
NM_032444.4(SLX4):c.4295C>T (p.Pro1432Leu)
NM_032444.4(SLX4):c.42G>C (p.Leu14Phe) rs1332832206
NM_032444.4(SLX4):c.4302G>A (p.Ser1434=) rs768311081
NM_032444.4(SLX4):c.4306A>G (p.Ile1436Val) rs2151121602
NM_032444.4(SLX4):c.4311C>G (p.Pro1437=)
NM_032444.4(SLX4):c.4314T>C (p.Ile1438=)
NM_032444.4(SLX4):c.4333C>G (p.Arg1445Gly) rs777967898
NM_032444.4(SLX4):c.4335G>A (p.Arg1445=) rs139377113
NM_032444.4(SLX4):c.4336A>G (p.Thr1446Ala) rs2040546349
NM_032444.4(SLX4):c.4336_4340del (p.Thr1446fs)
NM_032444.4(SLX4):c.4337C>G (p.Thr1446Ser)
NM_032444.4(SLX4):c.4355G>A (p.Ser1452Asn) rs765104618
NM_032444.4(SLX4):c.4362C>G (p.Pro1454=)
NM_032444.4(SLX4):c.4368C>T (p.Arg1456=)
NM_032444.4(SLX4):c.4371G>A (p.Arg1457=) rs745485209
NM_032444.4(SLX4):c.4371G>T (p.Arg1457Ser)
NM_032444.4(SLX4):c.4373T>C (p.Met1458Thr)
NM_032444.4(SLX4):c.4374G>C (p.Met1458Ile)
NM_032444.4(SLX4):c.4377C>G (p.Asn1459Lys) rs773941480
NM_032444.4(SLX4):c.4378G>A (p.Glu1460Lys) rs749082427
NM_032444.4(SLX4):c.437C>G (p.Ser146Cys)
NM_032444.4(SLX4):c.4381_4391del (p.Ala1461fs) rs751653739
NM_032444.4(SLX4):c.4382C>T (p.Ala1461Val)
NM_032444.4(SLX4):c.4382CCG[1] (p.Ala1462del)
NM_032444.4(SLX4):c.4384G>A (p.Ala1462Thr) rs138484365
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs) rs1596519879
NM_032444.4(SLX4):c.4394G>C (p.Arg1465Pro)
NM_032444.4(SLX4):c.4394G>T (p.Arg1465Leu) rs757128699
NM_032444.4(SLX4):c.4395_4406del (p.Asp1466_Ser1469del) rs2151121320
NM_032444.4(SLX4):c.4400G>A (p.Cys1467Tyr)
NM_032444.4(SLX4):c.4400G>C (p.Cys1467Ser)
NM_032444.4(SLX4):c.4404C>T (p.Arg1468=)
NM_032444.4(SLX4):c.4405del (p.Ser1469fs) rs1596519854
NM_032444.4(SLX4):c.440C>T (p.Ala147Val)
NM_032444.4(SLX4):c.4411G>A (p.Gly1471Arg)
NM_032444.4(SLX4):c.4420G>A (p.Asp1474Asn)
NM_032444.4(SLX4):c.4428C>T (p.Thr1476=)
NM_032444.4(SLX4):c.4429C>G (p.Pro1477Ala)
NM_032444.4(SLX4):c.442C>T (p.Pro148Ser)
NM_032444.4(SLX4):c.4431C>G (p.Pro1477=)
NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)
NM_032444.4(SLX4):c.4443C>G (p.Ser1481Arg) rs1307537720
NM_032444.4(SLX4):c.4451C>T (p.Thr1484Ile)
NM_032444.4(SLX4):c.4452C>G (p.Thr1484=)
NM_032444.4(SLX4):c.4457G>A (p.Arg1486Lys)
NM_032444.4(SLX4):c.4464G>C (p.Leu1488Phe) rs2040543369
NM_032444.4(SLX4):c.4468G>A (p.Glu1490Lys) rs1378182049
NM_032444.4(SLX4):c.4479G>C (p.Ser1493=)
NM_032444.4(SLX4):c.4481_4525del (p.Gly1494_Ser1508del) rs750613465
NM_032444.4(SLX4):c.4485G>A (p.Ala1495=) rs140872903
NM_032444.4(SLX4):c.4488C>T (p.Gly1496=) rs2151121109
NM_032444.4(SLX4):c.4504A>C (p.Arg1502=)
NM_032444.4(SLX4):c.4505G>A (p.Arg1502Lys)
NM_032444.4(SLX4):c.4508C>G (p.Pro1503Arg) rs370637700
NM_032444.4(SLX4):c.4509G>A (p.Pro1503=)
NM_032444.4(SLX4):c.4510A>C (p.Ser1504Arg)
NM_032444.4(SLX4):c.4511G>C (p.Ser1504Thr) rs1485376668
NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)
NM_032444.4(SLX4):c.4523C>G (p.Ser1508Trp)
NM_032444.4(SLX4):c.4523C>T (p.Ser1508Leu) rs112694849
NM_032444.4(SLX4):c.4524G>T (p.Ser1508=) rs1423670990
NM_032444.4(SLX4):c.4534G>A (p.Asp1512Asn)
NM_032444.4(SLX4):c.4534G>C (p.Asp1512His)
NM_032444.4(SLX4):c.4542G>T (p.Trp1514Cys) rs1198880078
NM_032444.4(SLX4):c.4546G>C (p.Gly1516Arg) rs775915651
NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)
NM_032444.4(SLX4):c.4554G>A (p.Glu1518=)
NM_032444.4(SLX4):c.4556A>C (p.Gln1519Pro) rs561446698
NM_032444.4(SLX4):c.455T>C (p.Val152Ala) rs2151139133
NM_032444.4(SLX4):c.4560G>A (p.Arg1520=) rs2040541238
NM_032444.4(SLX4):c.456G>A (p.Val152=)
NM_032444.4(SLX4):c.4576C>T (p.Pro1526Ser)
NM_032444.4(SLX4):c.4580C>A (p.Pro1527Gln) rs149362820
NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter) rs1237224833
NM_032444.4(SLX4):c.4586A>G (p.Gln1529Arg) rs2151120875
NM_032444.4(SLX4):c.4590G>T (p.Met1530Ile)
NM_032444.4(SLX4):c.4593A>C (p.Pro1531=) rs2151120865
NM_032444.4(SLX4):c.4596C>T (p.Ser1532=) rs527733303
NM_032444.4(SLX4):c.4600G>T (p.Gly1534Cys) rs78770603
NM_032444.4(SLX4):c.4601G>A (p.Gly1534Asp) rs753047651
NM_032444.4(SLX4):c.4601G>T (p.Gly1534Val) rs753047651
NM_032444.4(SLX4):c.4615C>T (p.Pro1539Ser)
NM_032444.4(SLX4):c.4617C>G (p.Pro1539=)
NM_032444.4(SLX4):c.4617C>T (p.Pro1539=) rs545723462
NM_032444.4(SLX4):c.4620A>C (p.Glu1540Asp)
NM_032444.4(SLX4):c.4622G>A (p.Gly1541Glu)
NM_032444.4(SLX4):c.4625T>A (p.Leu1542Ter) rs2040540029
NM_032444.4(SLX4):c.4629G>C (p.Glu1543Asp)
NM_032444.4(SLX4):c.4629G>T (p.Glu1543Asp) rs1406412705
NM_032444.4(SLX4):c.4633C>T (p.Pro1545Ser) rs2040539889
NM_032444.4(SLX4):c.4636+17G>A
NM_032444.4(SLX4):c.4636+20G>A
NM_032444.4(SLX4):c.4636A>G (p.Lys1546Glu)
NM_032444.4(SLX4):c.4644T>G (p.Ala1548=)
NM_032444.4(SLX4):c.4645A>T (p.Asn1549Tyr) rs2040490377
NM_032444.4(SLX4):c.4650GAA[2] (p.Lys1552del) rs760517738
NM_032444.4(SLX4):c.4652A>G (p.Lys1551Arg)
NM_032444.4(SLX4):c.4668C>G (p.Pro1556=)
NM_032444.4(SLX4):c.4668del (p.Val1558fs)
NM_032444.4(SLX4):c.4668dup (p.Lys1557fs)
NM_032444.4(SLX4):c.4678A>G (p.Ile1560Val)
NM_032444.4(SLX4):c.467C>T (p.Thr156Ile) rs144614070
NM_032444.4(SLX4):c.4686G>A (p.Pro1562=) rs752013105
NM_032444.4(SLX4):c.4693dup (p.Gln1565fs)
NM_032444.4(SLX4):c.4697A>G (p.Tyr1566Cys)
NM_032444.4(SLX4):c.4703T>C (p.Ile1568Thr) rs377185661
NM_032444.4(SLX4):c.4706T>C (p.Met1569Thr)
NM_032444.4(SLX4):c.4713G>A (p.Thr1571=)
NM_032444.4(SLX4):c.4717G>T (p.Val1573Leu)
NM_032444.4(SLX4):c.4720C>G (p.Leu1574Val) rs2040488671
NM_032444.4(SLX4):c.4721_4722delinsCC (p.Leu1574Pro) rs2151118023
NM_032444.4(SLX4):c.4728G>A (p.Lys1576=)
NM_032444.4(SLX4):c.4729G>C (p.Glu1577Gln)
NM_032444.4(SLX4):c.4737T>A (p.Asp1579Glu) rs1466193115
NM_032444.4(SLX4):c.4739+15A>G
NM_032444.4(SLX4):c.4739+6C>A rs770758859
NM_032444.4(SLX4):c.4740-13G>A rs1266530523
NM_032444.4(SLX4):c.4740-16C>T
NM_032444.4(SLX4):c.4740-18C>T
NM_032444.4(SLX4):c.4740-8T>A
NM_032444.4(SLX4):c.4742T>C (p.Phe1581Ser)
NM_032444.4(SLX4):c.4749C>A (p.Val1583=)
NM_032444.4(SLX4):c.4760C>G (p.Pro1587Arg) rs2040468443
NM_032444.4(SLX4):c.4764del (p.Lys1588fs) rs1567166655
NM_032444.4(SLX4):c.476A>C (p.Asn159Thr)
NM_032444.4(SLX4):c.4774G>T (p.Val1592Phe)
NM_032444.4(SLX4):c.4783C>T (p.Leu1595=)
NM_032444.4(SLX4):c.4787A>C (p.Lys1596Thr) rs2151117092
NM_032444.4(SLX4):c.4791G>C (p.Glu1597Asp)
NM_032444.4(SLX4):c.4792A>G (p.Ile1598Val)
NM_032444.4(SLX4):c.4798C>T (p.Gln1600Ter) rs143026968
NM_032444.4(SLX4):c.4799A>G (p.Gln1600Arg) rs2151117076
NM_032444.4(SLX4):c.4804A>C (p.Thr1602Pro) rs756198942
NM_032444.4(SLX4):c.4804A>G (p.Thr1602Ala)
NM_032444.4(SLX4):c.4809C>T (p.His1603=)
NM_032444.4(SLX4):c.4811A>C (p.Gln1604Pro) rs2040467275
NM_032444.4(SLX4):c.4816C>T (p.Leu1606=)
NM_032444.4(SLX4):c.4818G>C (p.Leu1606=) rs2151117040
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter) rs200628199
NM_032444.4(SLX4):c.4831G>A (p.Glu1611Lys)
NM_032444.4(SLX4):c.4832A>G (p.Glu1611Gly)
NM_032444.4(SLX4):c.4836C>A (p.Asp1612Glu) rs140844106
NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter) rs761469284
NM_032444.4(SLX4):c.483G>A (p.Gln161=)
NM_032444.4(SLX4):c.4842C>G (p.Ser1614Arg) rs2151116971
NM_032444.4(SLX4):c.4845G>A (p.Gln1615=) rs988625732
NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)
NM_032444.4(SLX4):c.4860G>A (p.Leu1620=) rs1415687441
NM_032444.4(SLX4):c.4860G>T (p.Leu1620=)
NM_032444.4(SLX4):c.4862del (p.Leu1621fs) rs1567166544
NM_032444.4(SLX4):c.4872T>G (p.Pro1624=)
NM_032444.4(SLX4):c.487G>A (p.Gly163Ser)
NM_032444.4(SLX4):c.4881del (p.Thr1628fs) rs1596515638
NM_032444.4(SLX4):c.4883C>A (p.Thr1628Asn) rs199573277
NM_032444.4(SLX4):c.4883C>T (p.Thr1628Ile) rs199573277
NM_032444.4(SLX4):c.4896G>A (p.Gln1632=)
NM_032444.4(SLX4):c.4906C>A (p.Pro1636Thr)
NM_032444.4(SLX4):c.4916C>G (p.Ala1639Gly)
NM_032444.4(SLX4):c.4916C>T (p.Ala1639Val)
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg) rs368102037
NM_032444.4(SLX4):c.4921dup (p.Val1641fs) rs770425994
NM_032444.4(SLX4):c.4931A>G (p.Gln1644Arg) rs2151116778
NM_032444.4(SLX4):c.4936G>A (p.Glu1646Lys)
NM_032444.4(SLX4):c.4936G>C (p.Glu1646Gln)
NM_032444.4(SLX4):c.4943C>A (p.Thr1648Asn)
NM_032444.4(SLX4):c.4946C>T (p.Thr1649Ile) rs2040464427
NM_032444.4(SLX4):c.4948G>A (p.Gly1650Arg) rs770344772
NM_032444.4(SLX4):c.4949G>A (p.Gly1650Glu) rs1567166441
NM_032444.4(SLX4):c.4950A>G (p.Gly1650=)
NM_032444.4(SLX4):c.4960C>T (p.His1654Tyr) rs2151116711
NM_032444.4(SLX4):c.4962T>C (p.His1654=) rs1407754407
NM_032444.4(SLX4):c.4968C>T (p.Pro1656=)
NM_032444.4(SLX4):c.4973G>A (p.Gly1658Glu)
NM_032444.4(SLX4):c.4975C>T (p.Pro1659Ser)
NM_032444.4(SLX4):c.4978_4980del (p.Ala1660del)
NM_032444.4(SLX4):c.4979C>T (p.Ala1660Val)
NM_032444.4(SLX4):c.497A>C (p.Gln166Pro) rs2151139059
NM_032444.4(SLX4):c.4983G>A (p.Lys1661=) rs769196428
NM_032444.4(SLX4):c.4990G>A (p.Gly1664Ser)
NM_032444.4(SLX4):c.4992C>T (p.Gly1664=)
NM_032444.4(SLX4):c.4997G>A (p.Arg1666Gln)
NM_032444.4(SLX4):c.4999C>A (p.His1667Asn) rs746120772
NM_032444.4(SLX4):c.5000A>C (p.His1667Pro)
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile) rs377544881
NM_032444.4(SLX4):c.5030C>A (p.Pro1677His) rs2040462734
NM_032444.4(SLX4):c.5039G>A (p.Arg1680Lys)
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5044C>T (p.Pro1682Ser)
NM_032444.4(SLX4):c.5049C>A (p.Thr1683=) rs1596515370
NM_032444.4(SLX4):c.5055_5058dup (p.Pro1687fs) rs2151116570
NM_032444.4(SLX4):c.5057C>T (p.Ala1686Val)
NM_032444.4(SLX4):c.5063C>T (p.Pro1688Leu) rs2151116555
NM_032444.4(SLX4):c.5066G>A (p.Gly1689Asp) rs2151116548
NM_032444.4(SLX4):c.506C>G (p.Ser169Trp)
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu) rs776018346
NM_032444.4(SLX4):c.5072A>T (p.Asn1691Ile) rs551385115
NM_032444.4(SLX4):c.5076T>C (p.Asp1692=)
NM_032444.4(SLX4):c.5079C>T (p.Asp1693=)
NM_032444.4(SLX4):c.507G>A (p.Ser169=)
NM_032444.4(SLX4):c.5080G>A (p.Ala1694Thr) rs1218491919
NM_032444.4(SLX4):c.5080G>T (p.Ala1694Ser) rs1218491919
NM_032444.4(SLX4):c.5085G>A (p.Gln1695=)
NM_032444.4(SLX4):c.5088C>T (p.Ile1696=) rs745883123
NM_032444.4(SLX4):c.5096C>G (p.Ser1699Cys) rs184699331
NM_032444.4(SLX4):c.5097T>C (p.Ser1699=) rs202099433
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs) rs1022072026
NM_032444.4(SLX4):c.5101_5103del (p.Glu1701del)
NM_032444.4(SLX4):c.5102A>T (p.Glu1701Val) rs2040461062
NM_032444.4(SLX4):c.5107G>A (p.Val1703Met)
NM_032444.4(SLX4):c.5107G>T (p.Val1703Leu)
NM_032444.4(SLX4):c.5108T>G (p.Val1703Gly) rs2040460900
NM_032444.4(SLX4):c.5109G>C (p.Val1703=)
NM_032444.4(SLX4):c.5110G>T (p.Ala1704Ser)
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs) rs2040460653
NM_032444.4(SLX4):c.5129G>A (p.Ser1710Asn) rs2151116448
NM_032444.4(SLX4):c.5139C>T (p.Ser1713=) rs748115513
NM_032444.4(SLX4):c.513C>T (p.Asn171=)
NM_032444.4(SLX4):c.5143A>G (p.Ser1715Gly) rs2151116429
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_032444.4(SLX4):c.5150A>C (p.Gln1717Pro) rs766089444
NM_032444.4(SLX4):c.5150A>G (p.Gln1717Arg) rs766089444
NM_032444.4(SLX4):c.5153+16C>T
NM_032444.4(SLX4):c.5153+5C>A
NM_032444.4(SLX4):c.5153+6C>A rs754209356
NM_032444.4(SLX4):c.5153+6C>T rs754209356
NM_032444.4(SLX4):c.5154-13T>C
NM_032444.4(SLX4):c.5154-19C>T
NM_032444.4(SLX4):c.5154-4del rs2151116057
NM_032444.4(SLX4):c.5154-9T>A rs1372404016
NM_032444.4(SLX4):c.5154TTC[1] (p.Ser1721del) rs770121119
NM_032444.4(SLX4):c.5166T>C (p.Cys1722=) rs1198701950
NM_032444.4(SLX4):c.5169G>A (p.Glu1723=) rs2151116036
NM_032444.4(SLX4):c.5171T>C (p.Phe1724Ser) rs2151116029
NM_032444.4(SLX4):c.5172del (p.Phe1724fs)
NM_032444.4(SLX4):c.5185G>C (p.Glu1729Gln) rs1376464922
NM_032444.4(SLX4):c.5186A>C (p.Glu1729Ala)
NM_032444.4(SLX4):c.5189C>T (p.Ser1730Phe) rs376960842
NM_032444.4(SLX4):c.5192C>T (p.Ala1731Val)
NM_032444.4(SLX4):c.5195G>C (p.Gly1732Ala)
NM_032444.4(SLX4):c.5197G>A (p.Glu1733Lys)
NM_032444.4(SLX4):c.5204A>C (p.Glu1735Ala)
NM_032444.4(SLX4):c.5209G>A (p.Glu1737Lys)
NM_032444.4(SLX4):c.5211G>C (p.Glu1737Asp) rs1365924781
NM_032444.4(SLX4):c.5215G>A (p.Glu1739Lys) rs2040453082
NM_032444.4(SLX4):c.5216_5217dup (p.Val1740fs) rs2151115927
NM_032444.4(SLX4):c.5220C>T (p.Val1740=)
NM_032444.4(SLX4):c.5229G>C (p.Ser1743=)
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs) rs781479923
NM_032444.4(SLX4):c.5238C>T (p.Ala1746=)
NM_032444.4(SLX4):c.5239G>A (p.Val1747Met)
NM_032444.4(SLX4):c.5239G>T (p.Val1747Leu)
NM_032444.4(SLX4):c.5244G>A (p.Gln1748=) rs2151115866
NM_032444.4(SLX4):c.5246C>T (p.Ala1749Val)
NM_032444.4(SLX4):c.5248G>A (p.Ala1750Thr)
NM_032444.4(SLX4):c.5248_5249delinsTT (p.Ala1750Leu) rs878855163
NM_032444.4(SLX4):c.5250G>A (p.Ala1750=) rs370495748
NM_032444.4(SLX4):c.5250G>C (p.Ala1750=)
NM_032444.4(SLX4):c.5253C>T (p.Asp1751=) rs748978984
NM_032444.4(SLX4):c.5257G>C (p.Asp1753His) rs981311587
NM_032444.4(SLX4):c.5262G>A (p.Glu1754=) rs1158728649
NM_032444.4(SLX4):c.5264C>G (p.Ala1755Gly)
NM_032444.4(SLX4):c.5271G>A (p.Arg1757=) rs761845224
NM_032444.4(SLX4):c.528A>C (p.Lys176Asn) rs778569160
NM_032444.4(SLX4):c.5292G>A (p.Pro1764=)
NM_032444.4(SLX4):c.5298G>C (p.Leu1766=)
NM_032444.4(SLX4):c.5300A>G (p.Tyr1767Cys) rs2040450814
NM_032444.4(SLX4):c.5305_5322dup (p.Lys1769_Gln1774dup) rs2151115686
NM_032444.4(SLX4):c.5308G>A (p.Val1770Met)
NM_032444.4(SLX4):c.5309T>A (p.Val1770Glu)
NM_032444.4(SLX4):c.5312T>C (p.Leu1771Pro)
NM_032444.4(SLX4):c.5316G>A (p.Leu1772=)
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=) rs1596514559
NM_032444.4(SLX4):c.5325C>T (p.Pro1775=)
NM_032444.4(SLX4):c.5327T>G (p.Phe1776Cys) rs747442815
NM_032444.4(SLX4):c.5328T>G (p.Phe1776Leu) rs2040450297
NM_032444.4(SLX4):c.5333T>G (p.Leu1778Arg)
NM_032444.4(SLX4):c.5342_5350del (p.Leu1781_Glu1784delinsGln) rs2151115638
NM_032444.4(SLX4):c.535+13C>T
NM_032444.4(SLX4):c.535+6T>G
NM_032444.4(SLX4):c.535+8G>T rs1438562094
NM_032444.4(SLX4):c.5352G>A (p.Glu1784=)
NM_032444.4(SLX4):c.5359C>G (p.Gln1787Glu) rs1259909923
NM_032444.4(SLX4):c.5359C>T (p.Gln1787Ter)
NM_032444.4(SLX4):c.536-11C>T rs988977923
NM_032444.4(SLX4):c.5364C>T (p.Asn1788=)
NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile) rs2040449660
NM_032444.4(SLX4):c.5381C>T (p.Ser1794Leu)
NM_032444.4(SLX4):c.5389C>T (p.Leu1797=)
NM_032444.4(SLX4):c.5409C>A (p.Thr1803=)
NM_032444.4(SLX4):c.540T>C (p.Asn180=)
NM_032444.4(SLX4):c.5412C>T (p.His1804=)
NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met) rs886051976
NM_032444.4(SLX4):c.5434G>A (p.Ala1812Thr)
NM_032444.4(SLX4):c.5440C>G (p.Arg1814Gly)
NM_032444.4(SLX4):c.5440C>T (p.Arg1814Cys) rs767720336
NM_032444.4(SLX4):c.5444G>C (p.Arg1815Thr) rs375885941
NM_032444.4(SLX4):c.5446G>A (p.Glu1816Lys)
NM_032444.4(SLX4):c.5467C>A (p.Arg1823=) rs771230395
NM_032444.4(SLX4):c.5468G>A (p.Arg1823Gln)
NM_032444.4(SLX4):c.5470C>T (p.Gln1824Ter) rs1037474114
NM_032444.4(SLX4):c.5480G>T (p.Gly1827Val) rs2151115403
NM_032444.4(SLX4):c.5480del (p.Gly1827fs) rs780024167
NM_032444.4(SLX4):c.5482AAG[2] (p.Lys1830del) rs758485573
NM_032444.4(SLX4):c.5490G>A (p.Lys1830=)
NM_032444.4(SLX4):c.552C>T (p.Ser184=)
NM_032444.4(SLX4):c.553G>T (p.Asp185Tyr)
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter) rs2040788600
NM_032444.4(SLX4):c.55C>T (p.His19Tyr)
NM_032444.4(SLX4):c.561G>T (p.Gln187His) rs778738306
NM_032444.4(SLX4):c.565C>G (p.Pro189Ala) rs757069991
NM_032444.4(SLX4):c.565C>T (p.Pro189Ser)
NM_032444.4(SLX4):c.568C>T (p.Pro190Ser) rs753758188
NM_032444.4(SLX4):c.580A>G (p.Thr194Ala)
NM_032444.4(SLX4):c.585A>G (p.Thr195=)
NM_032444.4(SLX4):c.589G>A (p.Val197Met) rs1555452306
NM_032444.4(SLX4):c.595A>C (p.Ser199Arg) rs770098753
NM_032444.4(SLX4):c.59del (p.Leu20fs) rs1315905872
NM_032444.4(SLX4):c.607C>A (p.Pro203Thr) rs2151137984
NM_032444.4(SLX4):c.60G>A (p.Leu20=) rs200430973
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly) rs79842542
NM_032444.4(SLX4):c.616G>A (p.Ala206Thr)
NM_032444.4(SLX4):c.619_623dup (p.Leu208fs)
NM_032444.4(SLX4):c.628C>T (p.Leu210=) rs772125734
NM_032444.4(SLX4):c.629T>C (p.Leu210Pro) rs957576825
NM_032444.4(SLX4):c.632A>G (p.Gln211Arg) rs2151137938
NM_032444.4(SLX4):c.642G>A (p.Gln214=) rs2151137919
NM_032444.4(SLX4):c.645G>C (p.Gln215His) rs1449991903
NM_032444.4(SLX4):c.657A>C (p.Ala219=) rs899168599
NM_032444.4(SLX4):c.660C>A (p.Asp220Glu) rs767206967
NM_032444.4(SLX4):c.661C>T (p.Pro221Ser) rs2040785784
NM_032444.4(SLX4):c.663C>T (p.Pro221=)
NM_032444.4(SLX4):c.666G>A (p.Glu222=)
NM_032444.4(SLX4):c.66C>T (p.Ala22=) rs774837514
NM_032444.4(SLX4):c.676C>T (p.His226Tyr) rs761229867
NM_032444.4(SLX4):c.678C>A (p.His226Gln) rs28516461
NM_032444.4(SLX4):c.681T>G (p.Ala227=)
NM_032444.4(SLX4):c.690G>A (p.Glu230=)
NM_032444.4(SLX4):c.696C>A (p.Ser232=)
NM_032444.4(SLX4):c.698T>C (p.Leu233Pro) rs2151137818
NM_032444.4(SLX4):c.703G>A (p.Ala235Thr) rs754917250
NM_032444.4(SLX4):c.704C>G (p.Ala235Gly) rs2040784637
NM_032444.4(SLX4):c.707C>T (p.Ala236Val) rs200803578
NM_032444.4(SLX4):c.718A>C (p.Asn240His)
NM_032444.4(SLX4):c.738A>G (p.Gln246=) rs905819290
NM_032444.4(SLX4):c.741G>A (p.Glu247=)
NM_032444.4(SLX4):c.742G>C (p.Glu248Gln)
NM_032444.4(SLX4):c.749T>C (p.Met250Thr)
NM_032444.4(SLX4):c.753G>T (p.Ala251=)
NM_032444.4(SLX4):c.760+12G>A rs2151137685
NM_032444.4(SLX4):c.760+18C>T
NM_032444.4(SLX4):c.760+19T>A
NM_032444.4(SLX4):c.760+5G>A rs1555452262
NM_032444.4(SLX4):c.760+8G>T rs746864879
NM_032444.4(SLX4):c.761-14G>A
NM_032444.4(SLX4):c.761T>A (p.Val254Glu) rs776582706
NM_032444.4(SLX4):c.764A>G (p.Tyr255Cys)
NM_032444.4(SLX4):c.768G>T (p.Gly256=)
NM_032444.4(SLX4):c.786A>G (p.Pro262=) rs2040736285
NM_032444.4(SLX4):c.788A>C (p.Glu263Ala) rs2151135057
NM_032444.4(SLX4):c.792C>G (p.Ser264Arg)
NM_032444.4(SLX4):c.793G>A (p.Asp265Asn)
NM_032444.4(SLX4):c.793G>C (p.Asp265His)
NM_032444.4(SLX4):c.798T>C (p.Ala266=)
NM_032444.4(SLX4):c.805G>T (p.Ala269Ser)
NM_032444.4(SLX4):c.80A>T (p.Asp27Val) rs1567178445
NM_032444.4(SLX4):c.81C>T (p.Asp27=)
NM_032444.4(SLX4):c.822G>C (p.Gln274His) rs1367038373
NM_032444.4(SLX4):c.852T>C (p.His284=) rs770412592
NM_032444.4(SLX4):c.853GAT[1] (p.Asp286del) rs761185763
NM_032444.4(SLX4):c.864G>A (p.Leu288=)
NM_032444.4(SLX4):c.867G>C (p.Glu289Asp)
NM_032444.4(SLX4):c.86G>C (p.Arg29Pro)
NM_032444.4(SLX4):c.86_89del (p.Arg29fs) rs2151139911
NM_032444.4(SLX4):c.874G>C (p.Gly292Arg) rs780402573
NM_032444.4(SLX4):c.883T>C (p.Phe295Leu)
NM_032444.4(SLX4):c.8T>G (p.Leu3Arg)
NM_032444.4(SLX4):c.906C>T (p.Asn302=) rs1397863706
NM_032444.4(SLX4):c.908T>C (p.Leu303Pro)
NM_032444.4(SLX4):c.943G>A (p.Val315Met)
NM_032444.4(SLX4):c.950+11C>T
NM_032444.4(SLX4):c.950+17C>T
NM_032444.4(SLX4):c.950+18C>T
NM_032444.4(SLX4):c.950+3G>C
NM_032444.4(SLX4):c.951-11T>C
NM_032444.4(SLX4):c.951-12G>T rs1160882480
NM_032444.4(SLX4):c.951-13T>C
NM_032444.4(SLX4):c.951-16G>T rs2151134218
NM_032444.4(SLX4):c.951-1G>C
NM_032444.4(SLX4):c.951-1G>T rs750371433
NM_032444.4(SLX4):c.951-20T>C
NM_032444.4(SLX4):c.951G>A (p.Arg317=) rs1338514538
NM_032444.4(SLX4):c.955T>C (p.Leu319=)
NM_032444.4(SLX4):c.956T>C (p.Leu319Ser) rs2151134190
NM_032444.4(SLX4):c.957G>A (p.Leu319=)
NM_032444.4(SLX4):c.966T>A (p.Ala322=)
NM_032444.4(SLX4):c.985_987del (p.Ser329del) rs1289726066
NM_032444.4(SLX4):c.988G>A (p.Val330Met) rs2040723281
NM_032444.4(SLX4):c.996G>A (p.Gln332=)
NM_032444.4(SLX4):c.99C>G (p.Asp33Glu)
NM_032609.3(COX4I2):c.28G>A (p.Val10Met)
NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)
NM_032609.3(COX4I2):c.83-8_83-7del rs528430338
NM_033022.3(RPS24):c.-142A>G rs886047294
NM_033022.3(RPS24):c.-47T>G rs371852053
NM_033022.4(RPS24):c.-37C>T rs375555593
NM_033022.4(RPS24):c.-7C>A rs200489620
NM_033022.4(RPS24):c.13_14del (p.Val5fs) rs1589326484
NM_033022.4(RPS24):c.148A>C (p.Thr50Pro) rs1554841994
NM_033022.4(RPS24):c.149C>G (p.Thr50Ser)
NM_033022.4(RPS24):c.155C>A (p.Pro52Gln)
NM_033022.4(RPS24):c.155C>T (p.Pro52Leu)
NM_033022.4(RPS24):c.156G>A (p.Pro52=)
NM_033022.4(RPS24):c.156G>T (p.Pro52=) rs150157180
NM_033022.4(RPS24):c.157del (p.Asp53fs) rs2131976643
NM_033022.4(RPS24):c.158A>T (p.Asp53Val)
NM_033022.4(RPS24):c.160G>A (p.Val54Ile)
NM_033022.4(RPS24):c.165C>T (p.Ile55=) rs1589326814
NM_033022.4(RPS24):c.171A>T (p.Val57=)
NM_033022.4(RPS24):c.172T>C (p.Phe58Leu)
NM_033022.4(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.4(RPS24):c.20T>G (p.Ile7Ser) rs1554841961
NM_033022.4(RPS24):c.21C>A (p.Ile7=)
NM_033022.4(RPS24):c.240T>G (p.Asp80Glu)
NM_033022.4(RPS24):c.246A>C (p.Ala82=) rs1240034111
NM_033022.4(RPS24):c.255T>C (p.Asn85=)
NM_033022.4(RPS24):c.271C>G (p.Leu91Val)
NM_033022.4(RPS24):c.273del (p.Ala92fs)
NM_033022.4(RPS24):c.275C>A (p.Ala92Glu)
NM_033022.4(RPS24):c.277A>C (p.Arg93=)
NM_033022.4(RPS24):c.278G>A (p.Arg93Lys)
NM_033022.4(RPS24):c.279+14_279+18del
NM_033022.4(RPS24):c.279+17T>A
NM_033022.4(RPS24):c.279+20_279+27del rs763970487
NM_033022.4(RPS24):c.279+5G>T
NM_033022.4(RPS24):c.280-11_280-10del rs756756010
NM_033022.4(RPS24):c.280-14C>G
NM_033022.4(RPS24):c.280-19G>T
NM_033022.4(RPS24):c.280-6A>C
NM_033022.4(RPS24):c.280-6A>G
NM_033022.4(RPS24):c.280C>T (p.His94Tyr)
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
NM_033022.4(RPS24):c.297G>A (p.Lys99=) rs1020277168
NM_033022.4(RPS24):c.297G>C (p.Lys99Asn)
NM_033022.4(RPS24):c.2T>C (p.Met1Thr)
NM_033022.4(RPS24):c.3+14G>C
NM_033022.4(RPS24):c.3+15G>A rs764832484
NM_033022.4(RPS24):c.3+16C>T
NM_033022.4(RPS24):c.3+17C>T rs751476775
NM_033022.4(RPS24):c.3+20T>A
NM_033022.4(RPS24):c.3+7C>G
NM_033022.4(RPS24):c.3+9C>T rs775865079
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.4(RPS24):c.320G>A (p.Arg107Gln)
NM_033022.4(RPS24):c.348A>G (p.Lys116=)
NM_033022.4(RPS24):c.352_354del (p.Arg118del) rs1847891159
NM_033022.4(RPS24):c.366G>A (p.Lys122=)
NM_033022.4(RPS24):c.372T>C (p.Asn124=)
NM_033022.4(RPS24):c.384C>G (p.Gly128=)
NM_033022.4(RPS24):c.390+13A>C
NM_033022.4(RPS24):c.390+4T>C
NM_033022.4(RPS24):c.390+9C>T
NM_033022.4(RPS24):c.391-11C>T
NM_033022.4(RPS24):c.391-4dup
NM_033022.4(RPS24):c.391-6A>G
NM_033022.4(RPS24):c.3G>A (p.Met1Ile) rs2131972918
NM_033022.4(RPS24):c.4-11T>C
NM_033022.4(RPS24):c.4-16G>C
NM_033022.4(RPS24):c.4-20C>G rs2131975997
NM_033022.4(RPS24):c.4-3C>T
NM_033022.4(RPS24):c.4-7T>C rs1847840052
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.4(RPS24):c.47G>C (p.Arg16Pro) rs199524789
NM_033022.4(RPS24):c.47G>T (p.Arg16Leu)
NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_033022.4(RPS24):c.66_67del (p.Gln22fs)
NM_033022.4(RPS24):c.69+11G>A
NM_033022.4(RPS24):c.69+17C>T
NM_033022.4(RPS24):c.70-10C>T rs1345822997
NM_033022.4(RPS24):c.70-14A>G
NM_033022.4(RPS24):c.70-15G>T
NM_033022.4(RPS24):c.81C>A (p.Val27=)
NM_033022.4(RPS24):c.82C>T (p.Leu28Phe) rs775383590
NM_033022.4(RPS24):c.86_103del (p.His29_Val35delinsLeu)
NM_033022.4(RPS24):c.97G>T (p.Ala33Ser)
NM_033084.4(FANCD2):c.-33-?_1098+?del
NM_033084.6(FANCD2):c.2609_2613del
NM_033084.6(FANCD2):c.3107_3108del rs2125059924
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
NM_058216.1(RAD51C):c.(?_-1)_837+?del
NM_058216.1(RAD51C):c.572-?_(*1_?)del
NM_058216.1(RAD51C):c.966-?_1026+?del
NM_058216.2(RAD51C):c.572-?_*120del
NM_058216.2(RAD51C):c.572-?_705+?del
NM_058216.2(RAD51C):c.706-?_*120del
NM_058216.3(RAD51C):c.-19G>T rs375889604
NM_058216.3(RAD51C):c.-3G>A rs864622151
NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)
NM_058216.3(RAD51C):c.1000_1002del (p.Glu334del)
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
NM_058216.3(RAD51C):c.1003T>C (p.Cys335Arg)
NM_058216.3(RAD51C):c.1003_1004insTTCC (p.Cys335fs)
NM_058216.3(RAD51C):c.1004G>A (p.Cys335Tyr) rs786203846
NM_058216.3(RAD51C):c.1007C>T (p.Thr336Ile) rs2144045960
NM_058216.3(RAD51C):c.1008A>T (p.Thr336=) rs1057521598
NM_058216.3(RAD51C):c.1009G>A (p.Val337Ile) rs2049473367
NM_058216.3(RAD51C):c.1009G>C (p.Val337Leu) rs2049473367
NM_058216.3(RAD51C):c.1009G>T (p.Val337Leu) rs2049473367
NM_058216.3(RAD51C):c.100A>C (p.Thr34Pro) rs2143678482
NM_058216.3(RAD51C):c.1012C>T (p.Leu338=) rs2144046180
NM_058216.3(RAD51C):c.1013_1024del (p.Leu338_Lys342delinsGln) rs780080251
NM_058216.3(RAD51C):c.1014G>A (p.Leu338=)
NM_058216.3(RAD51C):c.1014G>C (p.Leu338=)
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter) rs1555605103
NM_058216.3(RAD51C):c.101C>T (p.Thr34Ile) rs762230288
NM_058216.3(RAD51C):c.1021A>G (p.Ile341Val) rs2049473872
NM_058216.3(RAD51C):c.1023C>A (p.Ile341=) rs775672074
NM_058216.3(RAD51C):c.1026+11T>C
NM_058216.3(RAD51C):c.1026+13T>C rs531535812
NM_058216.3(RAD51C):c.1026+13T>G
NM_058216.3(RAD51C):c.1026+14G>T
NM_058216.3(RAD51C):c.1026+15A>G
NM_058216.3(RAD51C):c.1026+20A>C rs764171088
NM_058216.3(RAD51C):c.1026+4A>T
NM_058216.3(RAD51C):c.1026+5G>C
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.1026+6T>A rs2144046795
NM_058216.3(RAD51C):c.1026+9T>G rs1598535256
NM_058216.3(RAD51C):c.1027-10T>A rs2049558368
NM_058216.3(RAD51C):c.1027-10T>C rs2049558368
NM_058216.3(RAD51C):c.1027-10del rs768715761
NM_058216.3(RAD51C):c.1027-10dup rs768715761
NM_058216.3(RAD51C):c.1027-11T>G
NM_058216.3(RAD51C):c.1027-13T>G
NM_058216.3(RAD51C):c.1027-14T>A
NM_058216.3(RAD51C):c.1027-16A>G rs1057523589
NM_058216.3(RAD51C):c.1027-17T>C rs998655673
NM_058216.3(RAD51C):c.1027-1G>A rs1567818502
NM_058216.3(RAD51C):c.1027-1G>T rs1567818502
NM_058216.3(RAD51C):c.1027-2A>G rs587780835
NM_058216.3(RAD51C):c.1027-3C>G rs587782459
NM_058216.3(RAD51C):c.1027-7C>T rs2144059941
NM_058216.3(RAD51C):c.1027-8T>C rs1222826165
NM_058216.3(RAD51C):c.1027-9A>C rs2144059903
NM_058216.3(RAD51C):c.1027C>T (p.Pro343Ser) rs786201890
NM_058216.3(RAD51C):c.1028C>G (p.Pro343Arg) rs2049559202
NM_058216.3(RAD51C):c.1030C>T (p.Gln344Ter)
NM_058216.3(RAD51C):c.1032G>A (p.Gln344=) rs876658609
NM_058216.3(RAD51C):c.1032G>C (p.Gln344His) rs876658609
NM_058216.3(RAD51C):c.1037T>C (p.Phe346Ser) rs1555605530
NM_058216.3(RAD51C):c.1038T>A (p.Phe346Leu) rs2144060353
NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter) rs1555605532
NM_058216.3(RAD51C):c.103G>T (p.Ala35Ser) rs1432320770
NM_058216.3(RAD51C):c.1040G>T (p.Arg347Ile)
NM_058216.3(RAD51C):c.1042G>C (p.Asp348His)
NM_058216.3(RAD51C):c.1042G>T (p.Asp348Tyr) rs1555605533
NM_058216.3(RAD51C):c.1044T>G (p.Asp348Glu) rs2144060550
NM_058216.3(RAD51C):c.1045A>C (p.Thr349Pro)
NM_058216.3(RAD51C):c.1045A>G (p.Thr349Ala) rs1567818564
NM_058216.3(RAD51C):c.1047T>G (p.Thr349=) rs2144060685
NM_058216.3(RAD51C):c.1048G>A (p.Val350Ile) rs1473651696
NM_058216.3(RAD51C):c.1048G>C (p.Val350Leu)
NM_058216.3(RAD51C):c.1048G>T (p.Val350Phe) rs1473651696
NM_058216.3(RAD51C):c.1048GTT[3] (p.Val351dup) rs2049560991
NM_058216.3(RAD51C):c.104C>G (p.Ala35Gly) rs1555592011
NM_058216.3(RAD51C):c.104C>T (p.Ala35Val) rs1555592011
NM_058216.3(RAD51C):c.1054A>T (p.Thr352Ser)
NM_058216.3(RAD51C):c.1057_1066del (p.Ser353fs) rs1064792966
NM_058216.3(RAD51C):c.1058C>A (p.Ser353Tyr)
NM_058216.3(RAD51C):c.1059T>C (p.Ser353=) rs1399862812
NM_058216.3(RAD51C):c.105T>C (p.Ala35=) rs2143678775
NM_058216.3(RAD51C):c.1060G>A (p.Ala354Thr) rs1060502590
NM_058216.3(RAD51C):c.1063T>C (p.Cys355Arg) rs587782426
NM_058216.3(RAD51C):c.1067C>T (p.Ser356Leu) rs773843495
NM_058216.3(RAD51C):c.1068A>G (p.Ser356=)
NM_058216.3(RAD51C):c.1069T>C (p.Leu357=) rs1598540135
NM_058216.3(RAD51C):c.1070T>G (p.Leu357Trp)
NM_058216.3(RAD51C):c.1071G>A (p.Leu357=)
NM_058216.3(RAD51C):c.1072C>A (p.Gln358Lys)
NM_058216.3(RAD51C):c.1072C>G (p.Gln358Glu) rs2049563238
NM_058216.3(RAD51C):c.1072C>T (p.Gln358Ter)
NM_058216.3(RAD51C):c.1073A>G (p.Gln358Arg) rs1567818677
NM_058216.3(RAD51C):c.1073A>T (p.Gln358Leu) rs1567818677
NM_058216.3(RAD51C):c.1074_1110del (p.Glu360fs) rs1343626760
NM_058216.3(RAD51C):c.1075A>G (p.Thr359Ala)
NM_058216.3(RAD51C):c.1075A>T (p.Thr359Ser) rs1368752573
NM_058216.3(RAD51C):c.1076C>T (p.Thr359Ile)
NM_058216.3(RAD51C):c.1080del (p.Gly361fs)
NM_058216.3(RAD51C):c.1082G>A (p.Gly361Asp) rs2049564193
NM_058216.3(RAD51C):c.1082G>T (p.Gly361Val)
NM_058216.3(RAD51C):c.1085C>T (p.Ser362Phe) rs2049564336
NM_058216.3(RAD51C):c.1086C>T (p.Ser362=) rs1555605583
NM_058216.3(RAD51C):c.1087T>C (p.Leu363=)
NM_058216.3(RAD51C):c.1088T>C (p.Leu363Ser) rs2144062004
NM_058216.3(RAD51C):c.108G>A (p.Glu36=)
NM_058216.3(RAD51C):c.1090A>C (p.Ser364Arg) rs587782565
NM_058216.3(RAD51C):c.1091G>A (p.Ser364Asn)
NM_058216.3(RAD51C):c.1092C>G (p.Ser364Arg) rs863224805
NM_058216.3(RAD51C):c.1092C>T (p.Ser364=) rs863224805
NM_058216.3(RAD51C):c.1093A>C (p.Thr365Pro) rs1350543873
NM_058216.3(RAD51C):c.1093A>T (p.Thr365Ser) rs1350543873
NM_058216.3(RAD51C):c.1094C>A (p.Thr365Asn) rs755838887
NM_058216.3(RAD51C):c.1094C>G (p.Thr365Ser) rs755838887
NM_058216.3(RAD51C):c.1094C>T (p.Thr365Ile) rs755838887
NM_058216.3(RAD51C):c.1097G>C (p.Arg366Pro) rs577852020
NM_058216.3(RAD51C):c.1098G>A (p.Arg366=)
NM_058216.3(RAD51C):c.1098G>C (p.Arg366=) rs1555605608
NM_058216.3(RAD51C):c.1098del (p.Lys367fs) rs2144062356
NM_058216.3(RAD51C):c.1099A>C (p.Lys367Gln) rs1598540332
NM_058216.3(RAD51C):c.109G>A (p.Glu37Lys)
NM_058216.3(RAD51C):c.109G>C (p.Glu37Gln) rs1064794145
NM_058216.3(RAD51C):c.109del (p.Glu37fs)
NM_058216.3(RAD51C):c.10A>C (p.Lys4Gln)
NM_058216.3(RAD51C):c.10A>G (p.Lys4Glu)
NM_058216.3(RAD51C):c.1101A>G (p.Lys367=)
NM_058216.3(RAD51C):c.1103G>A (p.Arg368Gln) rs1378390389
NM_058216.3(RAD51C):c.1103G>T (p.Arg368Leu) rs1378390389
NM_058216.3(RAD51C):c.1104G>A (p.Arg368=)
NM_058216.3(RAD51C):c.1106C>T (p.Ser369Leu) rs2049566471
NM_058216.3(RAD51C):c.1107A>G (p.Ser369=) rs1555605619
NM_058216.3(RAD51C):c.1108C>A (p.Arg370=) rs756744016
NM_058216.3(RAD51C):c.1108C>G (p.Arg370Gly)
NM_058216.3(RAD51C):c.1110A>T (p.Arg370=) rs1567818815
NM_058216.3(RAD51C):c.1111G>A (p.Asp371Asn)
NM_058216.3(RAD51C):c.1111_1112del (p.Asp371fs)
NM_058216.3(RAD51C):c.1113C>A (p.Asp371Glu) rs1598540411
NM_058216.3(RAD51C):c.1113C>G (p.Asp371Glu) rs1598540411
NM_058216.3(RAD51C):c.1113C>T (p.Asp371=) rs1598540411
NM_058216.3(RAD51C):c.1114C>A (p.Pro372Thr)
NM_058216.3(RAD51C):c.1119G>A (p.Glu373=) rs786202691
NM_058216.3(RAD51C):c.111A>G (p.Glu37=) rs1365140814
NM_058216.3(RAD51C):c.1120G>A (p.Glu374Lys) rs1598540478
NM_058216.3(RAD51C):c.1123G>A (p.Glu375Lys) rs1555605640
NM_058216.3(RAD51C):c.1125A>G (p.Glu375=)
NM_058216.3(RAD51C):c.1126T>A (p.Leu376Ile) rs864622632
NM_058216.3(RAD51C):c.1126T>C (p.Leu376=) rs864622632
NM_058216.3(RAD51C):c.1127_1129del (p.Leu376del) rs1232402052
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=) rs545024029
NM_058216.3(RAD51C):c.112C>T (p.Leu38Phe)
NM_058216.3(RAD51C):c.113T>C (p.Leu38Pro) rs1555592021
NM_058216.3(RAD51C):c.114C>T (p.Leu38=) rs786202265
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val) rs759149207
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.116T>G (p.Leu39Arg)
NM_058216.3(RAD51C):c.117A>G (p.Leu39=) rs1158024242
NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys) rs786204086
NM_058216.3(RAD51C):c.119A>G (p.Glu40Gly) rs1555592039
NM_058216.3(RAD51C):c.11A>G (p.Lys4Arg) rs2047798678
NM_058216.3(RAD51C):c.120G>A (p.Glu40=)
NM_058216.3(RAD51C):c.120G>C (p.Glu40Asp) rs2143679565
NM_058216.3(RAD51C):c.121G>T (p.Val41Leu) rs879254131
NM_058216.3(RAD51C):c.122T>C (p.Val41Ala)
NM_058216.3(RAD51C):c.126A>G (p.Lys42=) rs1278628494
NM_058216.3(RAD51C):c.127C>A (p.Pro43Thr) rs1442559963
NM_058216.3(RAD51C):c.127C>G (p.Pro43Ala)
NM_058216.3(RAD51C):c.127C>T (p.Pro43Ser) rs1442559963
NM_058216.3(RAD51C):c.129C>G (p.Pro43=) rs1555592066
NM_058216.3(RAD51C):c.129C>T (p.Pro43=)
NM_058216.3(RAD51C):c.12G>C (p.Lys4Asn)
NM_058216.3(RAD51C):c.131C>A (p.Ser44Tyr)
NM_058216.3(RAD51C):c.131C>T (p.Ser44Phe)
NM_058216.3(RAD51C):c.132C>T (p.Ser44=) rs1027059784
NM_058216.3(RAD51C):c.132_133delinsTA (p.Glu45Lys) rs1555592076
NM_058216.3(RAD51C):c.133G>A (p.Glu45Lys)
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) rs1598449660
NM_058216.3(RAD51C):c.134A>C (p.Glu45Ala) rs587781383
NM_058216.3(RAD51C):c.135G>A (p.Glu45=) rs371608994
NM_058216.3(RAD51C):c.135G>C (p.Glu45Asp) rs371608994
NM_058216.3(RAD51C):c.136C>A (p.Leu46Ile) rs1423724305
NM_058216.3(RAD51C):c.137T>C (p.Leu46Pro)
NM_058216.3(RAD51C):c.139A>C (p.Ser47Arg) rs2047818737
NM_058216.3(RAD51C):c.139A>G (p.Ser47Gly) rs2047818737
NM_058216.3(RAD51C):c.13A>G (p.Thr5Ala)
NM_058216.3(RAD51C):c.13A>T (p.Thr5Ser) rs1314517659
NM_058216.3(RAD51C):c.140G>A (p.Ser47Asn) rs2047818916
NM_058216.3(RAD51C):c.141C>A (p.Ser47Arg)
NM_058216.3(RAD51C):c.142A>G (p.Lys48Glu)
NM_058216.3(RAD51C):c.142_144del (p.Lys48del)
NM_058216.3(RAD51C):c.143A>G (p.Lys48Arg) rs2143680972
NM_058216.3(RAD51C):c.144A>G (p.Lys48=)
NM_058216.3(RAD51C):c.145+10C>A
NM_058216.3(RAD51C):c.145+10C>G
NM_058216.3(RAD51C):c.145+10C>T
NM_058216.3(RAD51C):c.145+11C>T
NM_058216.3(RAD51C):c.145+12T>C
NM_058216.3(RAD51C):c.145+13G>C rs1177750681
NM_058216.3(RAD51C):c.145+14A>G rs1567783355
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.145+16G>A rs1471520258
NM_058216.3(RAD51C):c.145+17G>A rs369854656
NM_058216.3(RAD51C):c.145+17G>T rs369854656
NM_058216.3(RAD51C):c.145+18C>A
NM_058216.3(RAD51C):c.145+18C>T rs763292447
NM_058216.3(RAD51C):c.145+19A>G
NM_058216.3(RAD51C):c.145+1G>A rs757128712
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
NM_058216.3(RAD51C):c.145+2_145+3insTT rs1567783294
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG rs878855177
NM_058216.3(RAD51C):c.145+3A>G rs536596205
NM_058216.3(RAD51C):c.145+4A>G rs1598449822
NM_058216.3(RAD51C):c.145+4dup
NM_058216.3(RAD51C):c.145+7_145+17del rs2143681500
NM_058216.3(RAD51C):c.145+8C>T rs1555592121
NM_058216.3(RAD51C):c.145G>A (p.Glu49Lys) rs753709131
NM_058216.3(RAD51C):c.146-15T>C rs1036386535
NM_058216.3(RAD51C):c.146-15T>G
NM_058216.3(RAD51C):c.146-17T>C
NM_058216.3(RAD51C):c.146-2A>G rs1555593457
NM_058216.3(RAD51C):c.146-3C>G rs765143155
NM_058216.3(RAD51C):c.146-4T>C rs2143716945
NM_058216.3(RAD51C):c.146-4_146-2del rs1555593450
NM_058216.3(RAD51C):c.146-8A>C rs201079501
NM_058216.3(RAD51C):c.146-9T>A
NM_058216.3(RAD51C):c.146-9T>G rs2143716823
NM_058216.3(RAD51C):c.146-9del
NM_058216.3(RAD51C):c.14C>G (p.Thr5Arg) rs201523760
NM_058216.3(RAD51C):c.151G>A (p.Gly51Arg)
NM_058216.3(RAD51C):c.152G>C (p.Gly51Ala) rs758236529
NM_058216.3(RAD51C):c.152G>T (p.Gly51Val) rs758236529
NM_058216.3(RAD51C):c.153G>A (p.Gly51=) rs2143717416
NM_058216.3(RAD51C):c.154A>G (p.Ile52Val) rs730881927
NM_058216.3(RAD51C):c.155T>A (p.Ile52Lys)
NM_058216.3(RAD51C):c.155T>G (p.Ile52Arg) rs2143717510
NM_058216.3(RAD51C):c.156A>G (p.Ile52Met) rs2047940282
NM_058216.3(RAD51C):c.157T>C (p.Ser53Pro) rs2047940381
NM_058216.3(RAD51C):c.158C>G (p.Ser53Cys) rs876659265
NM_058216.3(RAD51C):c.158del (p.Ser53fs) rs587782533
NM_058216.3(RAD51C):c.15G>A (p.Thr5=)
NM_058216.3(RAD51C):c.160A>G (p.Lys54Glu) rs2047940709
NM_058216.3(RAD51C):c.160A>T (p.Lys54Ter) rs2047940709
NM_058216.3(RAD51C):c.163G>A (p.Ala55Thr) rs1555593472
NM_058216.3(RAD51C):c.165A>G (p.Ala55=)
NM_058216.3(RAD51C):c.167A>G (p.Glu56Gly) rs1567785734
NM_058216.3(RAD51C):c.168A>T (p.Glu56Asp)
NM_058216.3(RAD51C):c.168del (p.Ala57fs) rs2143717943
NM_058216.3(RAD51C):c.169G>A (p.Ala57Thr) rs1567785745
NM_058216.3(RAD51C):c.169G>T (p.Ala57Ser) rs1567785745
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val) rs749498443
NM_058216.3(RAD51C):c.170C>G (p.Ala57Gly) rs1598455307
NM_058216.3(RAD51C):c.174A>G (p.Leu58=) rs2143718204
NM_058216.3(RAD51C):c.175G>A (p.Glu59Lys) rs2143718252
NM_058216.3(RAD51C):c.178A>G (p.Thr60Ala) rs2047941918
NM_058216.3(RAD51C):c.17T>A (p.Phe6Tyr) rs771332058
NM_058216.3(RAD51C):c.17T>G (p.Phe6Cys) rs771332058
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.181_189del (p.Leu61_Ile63del)
NM_058216.3(RAD51C):c.183G>A (p.Leu61=) rs200531489
NM_058216.3(RAD51C):c.186A>C (p.Gln62His) rs28363303
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.187A>G (p.Ile63Val) rs876659694
NM_058216.3(RAD51C):c.189T>A (p.Ile63=) rs730881923
NM_058216.3(RAD51C):c.189T>C (p.Ile63=) rs730881923
NM_058216.3(RAD51C):c.189_191del (p.Ile64del) rs1555593498
NM_058216.3(RAD51C):c.18C>A (p.Phe6Leu) rs774685897
NM_058216.3(RAD51C):c.18C>G (p.Phe6Leu) rs774685897
NM_058216.3(RAD51C):c.18C>T (p.Phe6=) rs774685897
NM_058216.3(RAD51C):c.190A>G (p.Ile64Val) rs770335248
NM_058216.3(RAD51C):c.190A>T (p.Ile64Phe) rs770335248
NM_058216.3(RAD51C):c.191T>C (p.Ile64Thr) rs1555593511
NM_058216.3(RAD51C):c.192C>T (p.Ile64=) rs2143719037
NM_058216.3(RAD51C):c.193A>G (p.Arg65Gly) rs1227348505
NM_058216.3(RAD51C):c.198A>T (p.Arg66Ser) rs1060502585
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter) rs1567785872
NM_058216.3(RAD51C):c.19C>G (p.Arg7Gly) rs759759863
NM_058216.3(RAD51C):c.19C>T (p.Arg7Cys) rs759759863
NM_058216.3(RAD51C):c.1A>T (p.Met1Leu) rs921435798
NM_058216.3(RAD51C):c.201A>G (p.Glu67=) rs1598455493
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter) rs1567785888
NM_058216.3(RAD51C):c.206T>C (p.Leu69Pro) rs1555593527
NM_058216.3(RAD51C):c.207C>A (p.Leu69=)
NM_058216.3(RAD51C):c.207C>T (p.Leu69=) rs1057523582
NM_058216.3(RAD51C):c.208A>T (p.Thr70Ser)
NM_058216.3(RAD51C):c.209C>T (p.Thr70Ile) rs1060502599
NM_058216.3(RAD51C):c.209_210del (p.Thr70fs)
NM_058216.3(RAD51C):c.20G>C (p.Arg7Pro) rs892567748
NM_058216.3(RAD51C):c.20G>T (p.Arg7Leu) rs892567748
NM_058216.3(RAD51C):c.210A>G (p.Thr70=)
NM_058216.3(RAD51C):c.211A>C (p.Asn71His) rs876659936
NM_058216.3(RAD51C):c.211A>T (p.Asn71Tyr) rs876659936
NM_058216.3(RAD51C):c.212A>C (p.Asn71Thr) rs1598455555
NM_058216.3(RAD51C):c.212A>G (p.Asn71Ser) rs1598455555
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs) rs786202563
NM_058216.3(RAD51C):c.217C>A (p.Pro73Thr) rs1555593541
NM_058216.3(RAD51C):c.217C>G (p.Pro73Ala) rs1555593541
NM_058216.3(RAD51C):c.217C>T (p.Pro73Ser) rs1555593541
NM_058216.3(RAD51C):c.21C>A (p.Arg7=) rs1443654986
NM_058216.3(RAD51C):c.221G>A (p.Arg74Lys) rs2143720177
NM_058216.3(RAD51C):c.222A>C (p.Arg74Ser)
NM_058216.3(RAD51C):c.222A>G (p.Arg74=) rs2047945471
NM_058216.3(RAD51C):c.224A>G (p.Tyr75Cys) rs2047945655
NM_058216.3(RAD51C):c.224A>T (p.Tyr75Phe)
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs) rs1598455598
NM_058216.3(RAD51C):c.225T>C (p.Tyr75=) rs1555593553
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter) rs1555593553
NM_058216.3(RAD51C):c.226G>A (p.Ala76Thr) rs1598455619
NM_058216.3(RAD51C):c.227C>A (p.Ala76Asp) rs760175119
NM_058216.3(RAD51C):c.227C>G (p.Ala76Gly) rs760175119
NM_058216.3(RAD51C):c.229G>T (p.Gly77Cys) rs2143720670
NM_058216.3(RAD51C):c.22T>A (p.Phe8Ile)
NM_058216.3(RAD51C):c.22T>C (p.Phe8Leu)
NM_058216.3(RAD51C):c.230G>C (p.Gly77Ala) rs1449359018
NM_058216.3(RAD51C):c.234A>C (p.Thr78=) rs730881929
NM_058216.3(RAD51C):c.235T>A (p.Ser79Thr) rs1567786001
NM_058216.3(RAD51C):c.235T>G (p.Ser79Ala)
NM_058216.3(RAD51C):c.236C>G (p.Ser79Cys)
NM_058216.3(RAD51C):c.236C>T (p.Ser79Phe) rs1555593569
NM_058216.3(RAD51C):c.237T>A (p.Ser79=)
NM_058216.3(RAD51C):c.237T>C (p.Ser79=) rs1555593575
NM_058216.3(RAD51C):c.237T>G (p.Ser79=) rs1555593575
NM_058216.3(RAD51C):c.240G>T (p.Glu80Asp) rs779053608
NM_058216.3(RAD51C):c.242C>T (p.Ser81Leu) rs1555593587
NM_058216.3(RAD51C):c.244C>T (p.His82Tyr) rs1555593593
NM_058216.3(RAD51C):c.245A>G (p.His82Arg) rs1555593600
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs) rs2143721294
NM_058216.3(RAD51C):c.246C>G (p.His82Gln) rs1555593602
NM_058216.3(RAD51C):c.246C>T (p.His82=) rs1555593602
NM_058216.3(RAD51C):c.247A>G (p.Lys83Glu) rs2047947712
NM_058216.3(RAD51C):c.248A>C (p.Lys83Thr) rs1333679774
NM_058216.3(RAD51C):c.249G>A (p.Lys83=) rs145387081
NM_058216.3(RAD51C):c.249G>C (p.Lys83Asn) rs145387081
NM_058216.3(RAD51C):c.24T>A (p.Phe8Leu) rs587782698
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.251A>G (p.Lys84Arg) rs1372016419
NM_058216.3(RAD51C):c.252G>A (p.Lys84=) rs786202890
NM_058216.3(RAD51C):c.253T>G (p.Cys85Gly) rs1060502595
NM_058216.3(RAD51C):c.254G>A (p.Cys85Tyr) rs1555593627
NM_058216.3(RAD51C):c.254G>T (p.Cys85Phe)
NM_058216.3(RAD51C):c.255T>C (p.Cys85=) rs1318657498
NM_058216.3(RAD51C):c.256A>G (p.Thr86Ala)
NM_058216.3(RAD51C):c.257C>A (p.Thr86Lys)
NM_058216.3(RAD51C):c.257C>T (p.Thr86Ile) rs876658986
NM_058216.3(RAD51C):c.258A>G (p.Thr86=)
NM_058216.3(RAD51C):c.259G>A (p.Ala87Thr) rs1598455803
NM_058216.3(RAD51C):c.259G>T (p.Ala87Ser) rs1598455803
NM_058216.3(RAD51C):c.260C>A (p.Ala87Glu) rs1567786127
NM_058216.3(RAD51C):c.261A>G (p.Ala87=) rs2143722092
NM_058216.3(RAD51C):c.262C>G (p.Leu88Val) rs786201383
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.264G>A (p.Leu88=) rs2047949173
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys) rs876658197
NM_058216.3(RAD51C):c.265G>C (p.Glu89Gln) rs876658197
NM_058216.3(RAD51C):c.266A>G (p.Glu89Gly) rs2047949402
NM_058216.3(RAD51C):c.268C>T (p.Leu90Phe) rs876659585
NM_058216.3(RAD51C):c.269T>G (p.Leu90Arg) rs1064793934
NM_058216.3(RAD51C):c.26A>T (p.Glu9Val) rs2143673258
NM_058216.3(RAD51C):c.270T>A (p.Leu90=) rs1555593651
NM_058216.3(RAD51C):c.270T>C (p.Leu90=) rs1555593651
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe) rs1555593653
NM_058216.3(RAD51C):c.274G>A (p.Glu92Lys) rs765304898
NM_058216.3(RAD51C):c.274G>T (p.Glu92Ter) rs765304898
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter) rs1555593670
NM_058216.3(RAD51C):c.278A>C (p.Gln93Pro)
NM_058216.3(RAD51C):c.278A>G (p.Gln93Arg)
NM_058216.3(RAD51C):c.279G>A (p.Gln93=) rs2143722921
NM_058216.3(RAD51C):c.280G>A (p.Glu94Lys) rs1277411638
NM_058216.3(RAD51C):c.282G>A (p.Glu94=) rs2047950465
NM_058216.3(RAD51C):c.283C>T (p.His95Tyr) rs1317173760
NM_058216.3(RAD51C):c.284A>C (p.His95Pro) rs1567786210
NM_058216.3(RAD51C):c.284A>G (p.His95Arg)
NM_058216.3(RAD51C):c.285T>G (p.His95Gln) rs1555593678
NM_058216.3(RAD51C):c.286A>G (p.Thr96Ala)
NM_058216.3(RAD51C):c.287C>T (p.Thr96Ile)
NM_058216.3(RAD51C):c.288C>A (p.Thr96=) rs143180709
NM_058216.3(RAD51C):c.289C>G (p.Gln97Glu) rs1567786232
NM_058216.3(RAD51C):c.28A>G (p.Met10Val)
NM_058216.3(RAD51C):c.290A>G (p.Gln97Arg) rs2047951391
NM_058216.3(RAD51C):c.291G>C (p.Gln97His)
NM_058216.3(RAD51C):c.293G>C (p.Gly98Ala) rs1060502586
NM_058216.3(RAD51C):c.293G>T (p.Gly98Val) rs1060502586
NM_058216.3(RAD51C):c.294C>A (p.Gly98=)
NM_058216.3(RAD51C):c.296_297delinsCT (p.Phe99Ser) rs1555593696
NM_058216.3(RAD51C):c.298A>G (p.Ile100Val)
NM_058216.3(RAD51C):c.299T>A (p.Ile100Lys) rs1567786268
NM_058216.3(RAD51C):c.29T>A (p.Met10Lys)
NM_058216.3(RAD51C):c.29T>C (p.Met10Thr) rs730881936
NM_058216.3(RAD51C):c.301A>G (p.Ile101Val) rs1555593699
NM_058216.3(RAD51C):c.303C>A (p.Ile101=)
NM_058216.3(RAD51C):c.303C>T (p.Ile101=) rs751840489
NM_058216.3(RAD51C):c.304A>G (p.Thr102Ala) rs2143723786
NM_058216.3(RAD51C):c.305C>A (p.Thr102Asn) rs755106004
NM_058216.3(RAD51C):c.305C>T (p.Thr102Ile) rs755106004
NM_058216.3(RAD51C):c.306C>T (p.Thr102=) rs1567786291
NM_058216.3(RAD51C):c.307T>C (p.Phe103Leu) rs1114167446
NM_058216.3(RAD51C):c.308_310del (p.Phe103del) rs1064794253
NM_058216.3(RAD51C):c.309C>G (p.Phe103Leu) rs1484551212
NM_058216.3(RAD51C):c.30G>T (p.Met10Ile) rs775871420
NM_058216.3(RAD51C):c.311G>A (p.Cys104Tyr) rs1598456075
NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter) rs1555593715
NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs) rs2047953067
NM_058216.3(RAD51C):c.316G>A (p.Ala106Thr) rs2143724307
NM_058216.3(RAD51C):c.317C>G (p.Ala106Gly)
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val) rs1060502594
NM_058216.3(RAD51C):c.318A>C (p.Ala106=) rs781371468
NM_058216.3(RAD51C):c.319C>G (p.Leu107Val)
NM_058216.3(RAD51C):c.319C>T (p.Leu107=) rs752817595
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter) rs1567782755
NM_058216.3(RAD51C):c.322G>C (p.Asp108His) rs1567786361
NM_058216.3(RAD51C):c.323A>G (p.Asp108Gly) rs1555593745
NM_058216.3(RAD51C):c.325G>T (p.Asp109Tyr) rs778313181
NM_058216.3(RAD51C):c.326A>G (p.Asp109Gly)
NM_058216.3(RAD51C):c.328A>G (p.Ile110Val)
NM_058216.3(RAD51C):c.329T>G (p.Ile110Ser) rs1555593751
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg) rs730881937
NM_058216.3(RAD51C):c.331C>G (p.Leu111Val) rs1402638488
NM_058216.3(RAD51C):c.332T>C (p.Leu111Pro)
NM_058216.3(RAD51C):c.333T>C (p.Leu111=) rs1598456183
NM_058216.3(RAD51C):c.334G>T (p.Gly112Trp)
NM_058216.3(RAD51C):c.335G>A (p.Gly112Glu) rs370212314
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala) rs370212314
NM_058216.3(RAD51C):c.335G>T (p.Gly112Val) rs370212314
NM_058216.3(RAD51C):c.336G>C (p.Gly112=) rs746122031
NM_058216.3(RAD51C):c.337G>C (p.Gly113Arg) rs2047954842
NM_058216.3(RAD51C):c.337G>T (p.Gly113Cys) rs2047954842
NM_058216.3(RAD51C):c.338G>A (p.Gly113Asp) rs2047954937
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
NM_058216.3(RAD51C):c.339T>C (p.Gly113=) rs2143725217
NM_058216.3(RAD51C):c.33G>A (p.Gln11=) rs748248444
NM_058216.3(RAD51C):c.33G>C (p.Gln11His)
NM_058216.3(RAD51C):c.341G>T (p.Gly114Val) rs1555593767
NM_058216.3(RAD51C):c.342A>G (p.Gly114=) rs1555593777
NM_058216.3(RAD51C):c.343G>A (p.Val115Met) rs1202473484
NM_058216.3(RAD51C):c.343G>C (p.Val115Leu)
NM_058216.3(RAD51C):c.344T>C (p.Val115Ala) rs779104845
NM_058216.3(RAD51C):c.345G>A (p.Val115=) rs1598456274
NM_058216.3(RAD51C):c.346C>T (p.Pro116Ser)
NM_058216.3(RAD51C):c.347C>A (p.Pro116His) rs2047955710
NM_058216.3(RAD51C):c.347C>G (p.Pro116Arg) rs2047955710
NM_058216.3(RAD51C):c.347C>T (p.Pro116Leu)
NM_058216.3(RAD51C):c.348C>G (p.Pro116=) rs2047955792
NM_058216.3(RAD51C):c.348C>T (p.Pro116=) rs2047955792
NM_058216.3(RAD51C):c.34C>A (p.Arg12=)
NM_058216.3(RAD51C):c.34C>G (p.Arg12Gly) rs28910276
NM_058216.3(RAD51C):c.350T>C (p.Leu117Ser) rs1598456283
NM_058216.3(RAD51C):c.352A>G (p.Met118Val) rs2143725777
NM_058216.3(RAD51C):c.353_356del (p.Met118fs)
NM_058216.3(RAD51C):c.356A>G (p.Lys119Arg) rs2047956106
NM_058216.3(RAD51C):c.357A>G (p.Lys119=) rs863224434
NM_058216.3(RAD51C):c.358ACA[1] (p.Thr121del) rs1555593808
NM_058216.3(RAD51C):c.358dup (p.Thr120fs) rs2143725868
NM_058216.3(RAD51C):c.362C>T (p.Thr121Ile) rs2047956659
NM_058216.3(RAD51C):c.363_370del (p.Glu122fs)
NM_058216.3(RAD51C):c.367A>G (p.Ile123Val) rs1555593841
NM_058216.3(RAD51C):c.369T>A (p.Ile123=) rs2143726485
NM_058216.3(RAD51C):c.369T>C (p.Ile123=) rs2143726485
NM_058216.3(RAD51C):c.36G>A (p.Arg12=) rs876658798
NM_058216.3(RAD51C):c.36G>C (p.Arg12=) rs876658798
NM_058216.3(RAD51C):c.370T>G (p.Cys124Gly) rs1273995533
NM_058216.3(RAD51C):c.371G>C (p.Cys124Ser) rs2143726574
NM_058216.3(RAD51C):c.371G>T (p.Cys124Phe) rs2143726574
NM_058216.3(RAD51C):c.373G>A (p.Gly125Ser) rs142058115
NM_058216.3(RAD51C):c.374G>A (p.Gly125Asp) rs267606998
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val) rs267606998
NM_058216.3(RAD51C):c.375T>C (p.Gly125=)
NM_058216.3(RAD51C):c.377C>T (p.Ala126Val) rs1555593858
NM_058216.3(RAD51C):c.378A>C (p.Ala126=) rs876658639
NM_058216.3(RAD51C):c.379C>G (p.Pro127Ala)
NM_058216.3(RAD51C):c.379C>T (p.Pro127Ser) rs587782222
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) rs2047958236
NM_058216.3(RAD51C):c.37G>A (p.Asp13Asn) rs1060502603
NM_058216.3(RAD51C):c.37G>C (p.Asp13His) rs1060502603
NM_058216.3(RAD51C):c.37_38insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGCAGCGGG (p.Asp13fs)
NM_058216.3(RAD51C):c.380C>G (p.Pro127Arg)
NM_058216.3(RAD51C):c.380C>T (p.Pro127Leu)
NM_058216.3(RAD51C):c.381A>G (p.Pro127=) rs2143727201
NM_058216.3(RAD51C):c.382G>C (p.Gly128Arg) rs879254160
NM_058216.3(RAD51C):c.383G>T (p.Gly128Val)
NM_058216.3(RAD51C):c.386T>C (p.Val129Ala) rs876660641
NM_058216.3(RAD51C):c.388G>C (p.Gly130Arg)
NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala) rs2047958982
NM_058216.3(RAD51C):c.390A>C (p.Gly130=)
NM_058216.3(RAD51C):c.391A>C (p.Lys131Gln) rs2143727680
NM_058216.3(RAD51C):c.392A>T (p.Lys131Ile) rs762761380
NM_058216.3(RAD51C):c.393A>G (p.Lys131=) rs1598456492
NM_058216.3(RAD51C):c.394del (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.395C>A (p.Thr132Lys)
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg) rs730881930
NM_058216.3(RAD51C):c.396A>C (p.Thr132=) rs766221834
NM_058216.3(RAD51C):c.396A>T (p.Thr132=) rs766221834
NM_058216.3(RAD51C):c.397C>A (p.Gln133Lys) rs387907159
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.398A>C (p.Gln133Pro)
NM_058216.3(RAD51C):c.399A>G (p.Gln133=)
NM_058216.3(RAD51C):c.3G>C (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.3G>T (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.400T>C (p.Leu134=) rs863224435
NM_058216.3(RAD51C):c.401T>C (p.Leu134Ser) rs1233795152
NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter) rs1233795152
NM_058216.3(RAD51C):c.402A>G (p.Leu134=) rs1064794121
NM_058216.3(RAD51C):c.403T>C (p.Cys135Arg) rs878855178
NM_058216.3(RAD51C):c.404+12T>G
NM_058216.3(RAD51C):c.404+13G>A rs547506164
NM_058216.3(RAD51C):c.404+15del
NM_058216.3(RAD51C):c.404+16C>T rs376465837
NM_058216.3(RAD51C):c.404+18C>T
NM_058216.3(RAD51C):c.404+18_404+20del
NM_058216.3(RAD51C):c.404+3A>G rs1060502598
NM_058216.3(RAD51C):c.404+5A>T
NM_058216.3(RAD51C):c.404+6A>G rs2047961180
NM_058216.3(RAD51C):c.404+6_404+10del rs757693213
NM_058216.3(RAD51C):c.404+7_404+10del rs2143728389
NM_058216.3(RAD51C):c.404+8A>G
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe) rs767796996
NM_058216.3(RAD51C):c.405-10C>G rs748811733
NM_058216.3(RAD51C):c.405-15T>C
NM_058216.3(RAD51C):c.405-16A>G rs2048019846
NM_058216.3(RAD51C):c.405-18T>C rs2143742452
NM_058216.3(RAD51C):c.405-18T>G
NM_058216.3(RAD51C):c.405-19G>A rs2143742410
NM_058216.3(RAD51C):c.405-1G>A rs587782036
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.405-20T>G
NM_058216.3(RAD51C):c.405-2A>G rs2048020646
NM_058216.3(RAD51C):c.405-3C>G rs770815835
NM_058216.3(RAD51C):c.405-3C>T rs770815835
NM_058216.3(RAD51C):c.405-5G>A rs1598459949
NM_058216.3(RAD51C):c.405-6T>A rs1064793245
NM_058216.3(RAD51C):c.405-8G>A rs1431351072
NM_058216.3(RAD51C):c.405T>C (p.Cys135=) rs537272666
NM_058216.3(RAD51C):c.405T>G (p.Cys135Trp)
NM_058216.3(RAD51C):c.406A>G (p.Met136Val)
NM_058216.3(RAD51C):c.407T>G (p.Met136Arg) rs2048021034
NM_058216.3(RAD51C):c.408G>T (p.Met136Ile) rs587780836
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter) rs2048021234
NM_058216.3(RAD51C):c.410A>T (p.Gln137Leu) rs1555594548
NM_058216.3(RAD51C):c.411G>T (p.Gln137His) rs1555594552
NM_058216.3(RAD51C):c.415G>A (p.Ala139Thr) rs2048021584
NM_058216.3(RAD51C):c.415G>C (p.Ala139Pro) rs2048021584
NM_058216.3(RAD51C):c.416C>T (p.Ala139Val) rs1567788274
NM_058216.3(RAD51C):c.417A>C (p.Ala139=)
NM_058216.3(RAD51C):c.417A>G (p.Ala139=) rs863224436
NM_058216.3(RAD51C):c.418G>A (p.Val140Ile) rs730881938
NM_058216.3(RAD51C):c.419T>A (p.Val140Glu) rs767247010
NM_058216.3(RAD51C):c.420A>G (p.Val140=) rs1060504672
NM_058216.3(RAD51C):c.421G>A (p.Asp141Asn) rs587780837
NM_058216.3(RAD51C):c.422A>G (p.Asp141Gly) rs376494695
NM_058216.3(RAD51C):c.423T>C (p.Asp141=) rs2048022400
NM_058216.3(RAD51C):c.423T>G (p.Asp141Glu) rs2048022400
NM_058216.3(RAD51C):c.425T>C (p.Val142Ala) rs2143744027
NM_058216.3(RAD51C):c.429G>A (p.Gln143=) rs2143744196
NM_058216.3(RAD51C):c.42G>A (p.Leu14=) rs1598448777
NM_058216.3(RAD51C):c.430A>T (p.Ile144Leu) rs1271229750
NM_058216.3(RAD51C):c.433C>A (p.Pro145Thr) rs1555594594
NM_058216.3(RAD51C):c.433C>T (p.Pro145Ser) rs1555594594
NM_058216.3(RAD51C):c.438A>G (p.Glu146=) rs876660817
NM_058216.3(RAD51C):c.439T>C (p.Cys147Arg) rs2048023614
NM_058216.3(RAD51C):c.440G>A (p.Cys147Tyr) rs764177838
NM_058216.3(RAD51C):c.443T>C (p.Phe148Ser) rs864622580
NM_058216.3(RAD51C):c.444del (p.Phe148fs) rs1555594617
NM_058216.3(RAD51C):c.444dup (p.Gly149fs) rs1555594617
NM_058216.3(RAD51C):c.446G>A (p.Gly149Glu) rs1555594622
NM_058216.3(RAD51C):c.446GAG[1] (p.Gly150del) rs2048024043
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs) rs1598460178
NM_058216.3(RAD51C):c.448G>A (p.Gly150Arg) rs553112850
NM_058216.3(RAD51C):c.44T>C (p.Val15Ala) rs1060502593
NM_058216.3(RAD51C):c.44T>G (p.Val15Gly) rs1060502593
NM_058216.3(RAD51C):c.454G>A (p.Ala152Thr) rs1555594643
NM_058216.3(RAD51C):c.454G>T (p.Ala152Ser) rs1555594643
NM_058216.3(RAD51C):c.456A>G (p.Ala152=)
NM_058216.3(RAD51C):c.459T>G (p.Gly153=) rs769486350
NM_058216.3(RAD51C):c.45G>A (p.Val15=) rs1598448793
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_058216.3(RAD51C):c.463G>A (p.Ala155Thr) rs755879664
NM_058216.3(RAD51C):c.464C>G (p.Ala155Gly) rs777452778
NM_058216.3(RAD51C):c.467T>A (p.Val156Asp) rs1435180142
NM_058216.3(RAD51C):c.46A>T (p.Ser16Cys)
NM_058216.3(RAD51C):c.470T>G (p.Phe157Cys) rs1555594699
NM_058216.3(RAD51C):c.471T>C (p.Phe157=) rs1422598357
NM_058216.3(RAD51C):c.472dup (p.Ile158fs) rs2143746162
NM_058216.3(RAD51C):c.473T>C (p.Ile158Thr) rs1394901462
NM_058216.3(RAD51C):c.476A>C (p.Asp159Ala) rs1555594714
NM_058216.3(RAD51C):c.476A>T (p.Asp159Val)
NM_058216.3(RAD51C):c.477T>C (p.Asp159=) rs760436864
NM_058216.3(RAD51C):c.477T>G (p.Asp159Glu) rs760436864
NM_058216.3(RAD51C):c.478del (p.Thr160fs)
NM_058216.3(RAD51C):c.47G>A (p.Ser16Asn) rs1555591843
NM_058216.3(RAD51C):c.480A>C (p.Thr160=) rs1060504670
NM_058216.3(RAD51C):c.480A>G (p.Thr160=) rs1060504670
NM_058216.3(RAD51C):c.482A>T (p.Glu161Val) rs1555594725
NM_058216.3(RAD51C):c.483G>A (p.Glu161=) rs1188093917
NM_058216.3(RAD51C):c.483G>T (p.Glu161Asp) rs1188093917
NM_058216.3(RAD51C):c.484G>A (p.Gly162Arg)
NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu) rs35151472
NM_058216.3(RAD51C):c.485del (p.Gly162fs) rs2143746632
NM_058216.3(RAD51C):c.488G>A (p.Ser163Asn) rs1235906176
NM_058216.3(RAD51C):c.489T>A (p.Ser163Arg) rs876659719
NM_058216.3(RAD51C):c.489T>C (p.Ser163=) rs876659719
NM_058216.3(RAD51C):c.48T>C (p.Ser16=)
NM_058216.3(RAD51C):c.490T>G (p.Phe164Val) rs1555594754
NM_058216.3(RAD51C):c.491T>C (p.Phe164Ser) rs1060502589
NM_058216.3(RAD51C):c.491_492del (p.Phe164fs) rs2143746939
NM_058216.3(RAD51C):c.493A>G (p.Met165Val) rs1555594766
NM_058216.3(RAD51C):c.494T>C (p.Met165Thr) rs1598460523
NM_058216.3(RAD51C):c.495G>A (p.Met165Ile) rs1567788704
NM_058216.3(RAD51C):c.496del (p.Val166fs) rs2143747219
NM_058216.3(RAD51C):c.498del (p.Asp167fs) rs746993675
NM_058216.3(RAD51C):c.499G>C (p.Asp167His) rs1555594778
NM_058216.3(RAD51C):c.499G>T (p.Asp167Tyr)
NM_058216.3(RAD51C):c.499_501del (p.Asp167del) rs2143747370
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly) rs758029117
NM_058216.3(RAD51C):c.500A>G (p.Asp167Gly) rs1598460593
NM_058216.3(RAD51C):c.501T>C (p.Asp167=)
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs) rs587782699
NM_058216.3(RAD51C):c.502A>G (p.Arg168Gly) rs587781490
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.502dup (p.Arg168fs) rs2143747561
NM_058216.3(RAD51C):c.503G>A (p.Arg168Lys)
NM_058216.3(RAD51C):c.504A>G (p.Arg168=) rs1555594805
NM_058216.3(RAD51C):c.505G>A (p.Val169Met)
NM_058216.3(RAD51C):c.508G>A (p.Val170Ile) rs2048030325
NM_058216.3(RAD51C):c.508del (p.Val169_Val170insTer)
NM_058216.3(RAD51C):c.50T>C (p.Phe17Ser) rs1411454855
NM_058216.3(RAD51C):c.50T>G (p.Phe17Cys) rs1411454855
NM_058216.3(RAD51C):c.50del (p.Phe17fs) rs1555591851
NM_058216.3(RAD51C):c.511G>A (p.Asp171Asn) rs2143747843
NM_058216.3(RAD51C):c.513C>A (p.Asp171Glu) rs140279158
NM_058216.3(RAD51C):c.514C>T (p.Leu172Phe) rs876660732
NM_058216.3(RAD51C):c.515T>G (p.Leu172Arg)
NM_058216.3(RAD51C):c.519T>C (p.Ala173=) rs1177998422
NM_058216.3(RAD51C):c.519dup (p.Thr174fs) rs1598460710
NM_058216.3(RAD51C):c.51C>A (p.Phe17Leu) rs1598448876
NM_058216.3(RAD51C):c.51C>T (p.Phe17=) rs1598448876
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala) rs864622278
NM_058216.3(RAD51C):c.521C>T (p.Thr174Ile) rs2048031047
NM_058216.3(RAD51C):c.523G>T (p.Ala175Ser) rs587780838
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.526T>C (p.Cys176Arg) rs2048031436
NM_058216.3(RAD51C):c.529A>G (p.Ile177Val) rs786201828
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs) rs1598448896
NM_058216.3(RAD51C):c.532C>A (p.Gln178Lys) rs1555594861
NM_058216.3(RAD51C):c.533A>G (p.Gln178Arg) rs1598460753
NM_058216.3(RAD51C):c.534G>T (p.Gln178His) rs1567788846
NM_058216.3(RAD51C):c.535C>A (p.His179Asn)
NM_058216.3(RAD51C):c.535del (p.His179fs) rs1555594864
NM_058216.3(RAD51C):c.539T>G (p.Leu180Arg) rs1555594869
NM_058216.3(RAD51C):c.53C>A (p.Pro18Gln) rs754498936
NM_058216.3(RAD51C):c.53C>G (p.Pro18Arg) rs754498936
NM_058216.3(RAD51C):c.53del (p.Pro18fs)
NM_058216.3(RAD51C):c.542A>G (p.Gln181Arg) rs1064796060
NM_058216.3(RAD51C):c.543G>C (p.Gln181His)
NM_058216.3(RAD51C):c.546T>C (p.Leu182=)
NM_058216.3(RAD51C):c.54G>A (p.Pro18=)
NM_058216.3(RAD51C):c.54G>T (p.Pro18=) rs1555591865
NM_058216.3(RAD51C):c.54del (p.Leu19fs)
NM_058216.3(RAD51C):c.552A>G (p.Ala184=) rs761168518
NM_058216.3(RAD51C):c.554A>G (p.Glu185Gly) rs2143749539
NM_058216.3(RAD51C):c.556A>G (p.Lys186Glu) rs1363104728
NM_058216.3(RAD51C):c.556A>T (p.Lys186Ter) rs1363104728
NM_058216.3(RAD51C):c.556_558dup (p.Lys186dup) rs776534031
NM_058216.3(RAD51C):c.558A>G (p.Lys186=)
NM_058216.3(RAD51C):c.559C>G (p.His187Asp)
NM_058216.3(RAD51C):c.55C>T (p.Leu19=) rs1064796141
NM_058216.3(RAD51C):c.560A>G (p.His187Arg)
NM_058216.3(RAD51C):c.561C>A (p.His187Gln) rs2048033583
NM_058216.3(RAD51C):c.561C>G (p.His187Gln)
NM_058216.3(RAD51C):c.561C>T (p.His187=) rs2048033583
NM_058216.3(RAD51C):c.561_562del (p.His187fs) rs1057517812
NM_058216.3(RAD51C):c.562A>G (p.Lys188Glu)
NM_058216.3(RAD51C):c.562_563del (p.Lys188fs) rs2143749861
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs) rs1555594912
NM_058216.3(RAD51C):c.564G>A (p.Lys188=) rs876658264
NM_058216.3(RAD51C):c.564G>T (p.Lys188Asn) rs876658264
NM_058216.3(RAD51C):c.565G>A (p.Gly189Arg) rs1330937621
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter) rs1330937621
NM_058216.3(RAD51C):c.566G>A (p.Gly189Glu) rs1240012999
NM_058216.3(RAD51C):c.567A>G (p.Gly189=) rs1567788981
NM_058216.3(RAD51C):c.568G>A (p.Glu190Lys) rs779932777
NM_058216.3(RAD51C):c.56T>A (p.Leu19Gln)
NM_058216.3(RAD51C):c.56T>C (p.Leu19Pro) rs1598448973
NM_058216.3(RAD51C):c.570G>A (p.Glu190=) rs1555594937
NM_058216.3(RAD51C):c.570G>C (p.Glu190Asp)
NM_058216.3(RAD51C):c.571+11A>G
NM_058216.3(RAD51C):c.571+12A>G
NM_058216.3(RAD51C):c.571+13A>G
NM_058216.3(RAD51C):c.571+15_571+16insCA rs370506962
NM_058216.3(RAD51C):c.571+16A>T
NM_058216.3(RAD51C):c.571+17T>C rs2143750571
NM_058216.3(RAD51C):c.571+18C>G
NM_058216.3(RAD51C):c.571+18C>T rs774137305
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_058216.3(RAD51C):c.571+21_571+23del rs1168224153
NM_058216.3(RAD51C):c.571+2863A>G
NM_058216.3(RAD51C):c.571+2T>A rs1567789009
NM_058216.3(RAD51C):c.571+3013_590del
NM_058216.3(RAD51C):c.571+3_571+6del
NM_058216.3(RAD51C):c.571+6T>G rs1598461030
NM_058216.3(RAD51C):c.571+7T>A
NM_058216.3(RAD51C):c.571+7T>C rs1024076621
NM_058216.3(RAD51C):c.571+9G>C rs776730538
NM_058216.3(RAD51C):c.571G>A (p.Glu191Lys) rs1598460983
NM_058216.3(RAD51C):c.572-11del rs587780258
NM_058216.3(RAD51C):c.572-13T>G rs2143796132
NM_058216.3(RAD51C):c.572-14T>G
NM_058216.3(RAD51C):c.572-16T>C rs1555597053
NM_058216.3(RAD51C):c.572-17G>A rs193023469
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.572-21_572-16del rs773035374
NM_058216.3(RAD51C):c.572-3C>G rs1567794089
NM_058216.3(RAD51C):c.572-3C>T rs1567794089
NM_058216.3(RAD51C):c.572-5T>C
NM_058216.3(RAD51C):c.572-7G>A rs1567794083
NM_058216.3(RAD51C):c.572-8T>C rs2143796223
NM_058216.3(RAD51C):c.573A>G (p.Glu191=) rs2143796412
NM_058216.3(RAD51C):c.576C>A (p.His192Gln) rs2143796505
NM_058216.3(RAD51C):c.576C>G (p.His192Gln)
NM_058216.3(RAD51C):c.577C>A (p.Arg193=) rs200293302
NM_058216.3(RAD51C):c.577C>G (p.Arg193Gly)
NM_058216.3(RAD51C):c.57G>C (p.Leu19=)
NM_058216.3(RAD51C):c.583G>A (p.Ala195Thr) rs1060502600
NM_058216.3(RAD51C):c.585T>C (p.Ala195=) rs2143796798
NM_058216.3(RAD51C):c.588G>A (p.Leu196=) rs1555597088
NM_058216.3(RAD51C):c.589G>A (p.Glu197Lys) rs1555597094
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter) rs1555597094
NM_058216.3(RAD51C):c.591G>A (p.Glu197=)
NM_058216.3(RAD51C):c.592G>T (p.Asp198Tyr) rs2143797075
NM_058216.3(RAD51C):c.593A>G (p.Asp198Gly) rs2048269455
NM_058216.3(RAD51C):c.597_603del (p.Phe199fs) rs2048269550
NM_058216.3(RAD51C):c.598A>G (p.Thr200Ala) rs1369125082
NM_058216.3(RAD51C):c.59C>A (p.Ser20Tyr) rs786203944
NM_058216.3(RAD51C):c.59C>G (p.Ser20Cys) rs786203944
NM_058216.3(RAD51C):c.59C>T (p.Ser20Phe) rs786203944
NM_058216.3(RAD51C):c.5G>A (p.Arg2His) rs2047797645
NM_058216.3(RAD51C):c.601C>T (p.Leu201Phe)
NM_058216.3(RAD51C):c.602T>C (p.Leu201Pro) rs587780839
NM_058216.3(RAD51C):c.602T>G (p.Leu201Arg)
NM_058216.3(RAD51C):c.605A>G (p.Asp202Gly) rs1060502591
NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu) rs2048270218
NM_058216.3(RAD51C):c.608A>G (p.Asn203Ser)
NM_058216.3(RAD51C):c.610A>G (p.Ile204Val) rs1598473225
NM_058216.3(RAD51C):c.612del (p.Leu205fs) rs2143797889
NM_058216.3(RAD51C):c.615T>C (p.Leu205=) rs2143797988
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
NM_058216.3(RAD51C):c.617C>A (p.Ser206Tyr)
NM_058216.3(RAD51C):c.61C>A (p.Pro21Thr)
NM_058216.3(RAD51C):c.61C>G (p.Pro21Ala) rs752608224
NM_058216.3(RAD51C):c.61C>T (p.Pro21Ser) rs752608224
NM_058216.3(RAD51C):c.620A>T (p.His207Leu)
NM_058216.3(RAD51C):c.622A>T (p.Ile208Phe)
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs) rs876659497
NM_058216.3(RAD51C):c.623T>G (p.Ile208Ser) rs1598473279
NM_058216.3(RAD51C):c.624T>G (p.Ile208Met) rs775006411
NM_058216.3(RAD51C):c.625T>G (p.Tyr209Asp) rs2143798413
NM_058216.3(RAD51C):c.626A>T (p.Tyr209Phe) rs1017384420
NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)
NM_058216.3(RAD51C):c.629A>G (p.Tyr210Cys) rs1598473310
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.631T>C (p.Phe211Leu) rs2048271607
NM_058216.3(RAD51C):c.634C>A (p.Arg212Ser) rs137947462
NM_058216.3(RAD51C):c.634C>G (p.Arg212Gly) rs137947462
NM_058216.3(RAD51C):c.635G>T (p.Arg212Leu) rs200857129
NM_058216.3(RAD51C):c.636C>T (p.Arg212=) rs1481957875
NM_058216.3(RAD51C):c.637T>C (p.Cys213Arg)
NM_058216.3(RAD51C):c.638G>C (p.Cys213Ser) rs2143798852
NM_058216.3(RAD51C):c.639T>C (p.Cys213=)
NM_058216.3(RAD51C):c.645C>G (p.Asp215Glu) rs2143799278
NM_058216.3(RAD51C):c.645C>T (p.Asp215=)
NM_058216.3(RAD51C):c.647A>G (p.Tyr216Cys) rs746755735
NM_058216.3(RAD51C):c.648C>T (p.Tyr216=)
NM_058216.3(RAD51C):c.649A>C (p.Thr217Pro)
NM_058216.3(RAD51C):c.649A>G (p.Thr217Ala) rs1555597189
NM_058216.3(RAD51C):c.649A>T (p.Thr217Ser) rs1555597189
NM_058216.3(RAD51C):c.650_651del (p.Thr217fs) rs2048272509
NM_058216.3(RAD51C):c.651A>C (p.Thr217=)
NM_058216.3(RAD51C):c.651A>T (p.Thr217=) rs757915374
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter) rs201529791
NM_058216.3(RAD51C):c.657A>G (p.Leu219=) rs2143800069
NM_058216.3(RAD51C):c.658C>G (p.Leu220Val)
NM_058216.3(RAD51C):c.658C>T (p.Leu220=) rs1555597205
NM_058216.3(RAD51C):c.659T>C (p.Leu220Pro)
NM_058216.3(RAD51C):c.65C>G (p.Ala22Gly)
NM_058216.3(RAD51C):c.663A>C (p.Ala221=)
NM_058216.3(RAD51C):c.666A>G (p.Gln222=) rs1567794382
NM_058216.3(RAD51C):c.667G>A (p.Val223Ile) rs876660177
NM_058216.3(RAD51C):c.669T>C (p.Val223=) rs2143800599
NM_058216.3(RAD51C):c.66G>C (p.Ala22=) rs876660695
NM_058216.3(RAD51C):c.670_705+64dup rs1555597210
NM_058216.3(RAD51C):c.671A>G (p.Tyr224Cys) rs730881924
NM_058216.3(RAD51C):c.672_705+65dup rs1555597214
NM_058216.3(RAD51C):c.674T>C (p.Leu225Pro) rs1032681872
NM_058216.3(RAD51C):c.674TTC[1] (p.Leu226del) rs1555597217
NM_058216.3(RAD51C):c.675del (p.Leu226fs) rs2048274544
NM_058216.3(RAD51C):c.677T>C (p.Leu226Pro) rs1225858240
NM_058216.3(RAD51C):c.679C>T (p.Pro227Ser) rs958242201
NM_058216.3(RAD51C):c.67G>A (p.Val23Met) rs1386696811
NM_058216.3(RAD51C):c.67G>C (p.Val23Leu) rs1386696811
NM_058216.3(RAD51C):c.681A>C (p.Pro227=) rs1177043110
NM_058216.3(RAD51C):c.681A>G (p.Pro227=) rs1177043110
NM_058216.3(RAD51C):c.683A>G (p.Asp228Gly) rs2048274960
NM_058216.3(RAD51C):c.683A>T (p.Asp228Val) rs2048274960
NM_058216.3(RAD51C):c.685T>A (p.Phe229Ile)
NM_058216.3(RAD51C):c.687C>T (p.Phe229=) rs780177888
NM_058216.3(RAD51C):c.688C>T (p.Leu230Phe) rs751528808
NM_058216.3(RAD51C):c.688del (p.Leu230fs) rs2143801496
NM_058216.3(RAD51C):c.68T>C (p.Val23Ala)
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs) rs2047807048
NM_058216.3(RAD51C):c.690T>C (p.Leu230=) rs2143801640
NM_058216.3(RAD51C):c.692C>T (p.Ser231Leu) rs1060502588
NM_058216.3(RAD51C):c.692del (p.Leu230_Ser231insTer) rs2143801795
NM_058216.3(RAD51C):c.693A>G (p.Ser231=) rs1598473581
NM_058216.3(RAD51C):c.694G>A (p.Glu232Lys) rs2143801948
NM_058216.3(RAD51C):c.696A>G (p.Glu232=) rs786201177
NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp) rs786201177
NM_058216.3(RAD51C):c.697C>T (p.His233Tyr) rs2143802148
NM_058216.3(RAD51C):c.698A>C (p.His233Pro)
NM_058216.3(RAD51C):c.698A>G (p.His233Arg) rs754895072
NM_058216.3(RAD51C):c.6C>G (p.Arg2=) rs1334508786
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.702A>C (p.Ser234=)
NM_058216.3(RAD51C):c.702A>G (p.Ser234=)
NM_058216.3(RAD51C):c.703A>G (p.Lys235Glu) rs1555597252
NM_058216.3(RAD51C):c.704del (p.Lys235fs) rs1567794476
NM_058216.3(RAD51C):c.704dup (p.Val236fs) rs1567794476
NM_058216.3(RAD51C):c.705+13C>A
NM_058216.3(RAD51C):c.705+13C>T
NM_058216.3(RAD51C):c.705+15A>G
NM_058216.3(RAD51C):c.705+16C>G
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.705+1G>T rs876658644
NM_058216.3(RAD51C):c.705+3A>G rs878855179
NM_058216.3(RAD51C):c.705+3A>T rs878855179
NM_058216.3(RAD51C):c.705+4T>G rs778157321
NM_058216.3(RAD51C):c.705+6A>C
NM_058216.3(RAD51C):c.705+9C>G rs1598473685
NM_058216.3(RAD51C):c.705+9C>T rs1598473685
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.706-10C>T
NM_058216.3(RAD51C):c.706-11T>G rs2143849743
NM_058216.3(RAD51C):c.706-12T>A rs2143849715
NM_058216.3(RAD51C):c.706-17A>C
NM_058216.3(RAD51C):c.706-18_706-16del rs1173077552
NM_058216.3(RAD51C):c.706-1G>A rs1555599090
NM_058216.3(RAD51C):c.706-20A>G
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.706-4T>A rs2143849867
NM_058216.3(RAD51C):c.706-5T>C rs2143849856
NM_058216.3(RAD51C):c.706-7T>C rs1555599087
NM_058216.3(RAD51C):c.706-7T>G
NM_058216.3(RAD51C):c.706-9T>A rs1060504671
NM_058216.3(RAD51C):c.706-9T>C rs1060504671
NM_058216.3(RAD51C):c.706-9T>G rs1060504671
NM_058216.3(RAD51C):c.706G>T (p.Val236Phe) rs2143849926
NM_058216.3(RAD51C):c.707T>A (p.Val236Asp) rs1555599091
NM_058216.3(RAD51C):c.70C>G (p.Arg24Gly) rs878855180
NM_058216.3(RAD51C):c.70C>T (p.Arg24Trp) rs878855180
NM_058216.3(RAD51C):c.710G>C (p.Arg237Pro) rs370393672
NM_058216.3(RAD51C):c.710G>T (p.Arg237Leu)
NM_058216.3(RAD51C):c.711A>T (p.Arg237=)
NM_058216.3(RAD51C):c.713T>C (p.Leu238Pro) rs1060502606
NM_058216.3(RAD51C):c.713T>G (p.Leu238Arg) rs1060502606
NM_058216.3(RAD51C):c.715G>C (p.Val239Leu) rs1064795326
NM_058216.3(RAD51C):c.715G>T (p.Val239Leu) rs1064795326
NM_058216.3(RAD51C):c.716T>A (p.Val239Glu) rs1064795220
NM_058216.3(RAD51C):c.717G>C (p.Val239=) rs1555599108
NM_058216.3(RAD51C):c.718A>G (p.Ile240Val) rs863224806
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu) rs863224806
NM_058216.3(RAD51C):c.71G>A (p.Arg24Gln) rs777554369
NM_058216.3(RAD51C):c.71G>T (p.Arg24Leu) rs777554369
NM_058216.3(RAD51C):c.71_85dup (p.Val28_Ser29insTrpValLysLeuVal) rs1598449114
NM_058216.3(RAD51C):c.723G>A (p.Val241=) rs2143850541
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.725A>G (p.Asp242Gly) rs2048494505
NM_058216.3(RAD51C):c.725A>T (p.Asp242Val) rs2048494505
NM_058216.3(RAD51C):c.727G>A (p.Gly243Ser) rs2048494596
NM_058216.3(RAD51C):c.728G>A (p.Gly243Asp)
NM_058216.3(RAD51C):c.728G>C (p.Gly243Ala)
NM_058216.3(RAD51C):c.72_73insAT (p.Val25fs) rs775482687
NM_058216.3(RAD51C):c.730A>T (p.Ile244Phe) rs199886026
NM_058216.3(RAD51C):c.732T>G (p.Ile244Met) rs2048495083
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.734C>T (p.Ala245Val) rs1555599151
NM_058216.3(RAD51C):c.738del (p.Pro247fs)
NM_058216.3(RAD51C):c.73G>C (p.Val25Leu) rs757116652
NM_058216.3(RAD51C):c.73G>T (p.Val25Leu) rs757116652
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs) rs1567782936
NM_058216.3(RAD51C):c.741A>G (p.Pro247=) rs1010366805
NM_058216.3(RAD51C):c.742T>C (p.Phe248Leu) rs876659496
NM_058216.3(RAD51C):c.744T>G (p.Phe248Leu)
NM_058216.3(RAD51C):c.745C>G (p.Arg249Gly) rs28363311
NM_058216.3(RAD51C):c.745C>T (p.Arg249Cys) rs28363311
NM_058216.3(RAD51C):c.748C>G (p.His250Asp) rs531540031
NM_058216.3(RAD51C):c.749A>G (p.His250Arg) rs1060502597
NM_058216.3(RAD51C):c.74T>C (p.Val25Ala) rs2047809263
NM_058216.3(RAD51C):c.750T>C (p.His250=)
NM_058216.3(RAD51C):c.752A>G (p.Asp251Gly) rs2048496443
NM_058216.3(RAD51C):c.753C>T (p.Asp251=) rs1415231244
NM_058216.3(RAD51C):c.755T>A (p.Leu252Gln) rs2048496750
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437
NM_058216.3(RAD51C):c.757G>C (p.Asp253His)
NM_058216.3(RAD51C):c.75dup (p.Lys26fs)
NM_058216.3(RAD51C):c.763C>T (p.Leu255=) rs1598484488
NM_058216.3(RAD51C):c.764T>C (p.Leu255Pro) rs1567799667
NM_058216.3(RAD51C):c.767C>G (p.Ser256Cys) rs2143852373
NM_058216.3(RAD51C):c.773G>C (p.Arg258Pro) rs267606997
NM_058216.3(RAD51C):c.773G>T (p.Arg258Leu) rs267606997
NM_058216.3(RAD51C):c.774T>C (p.Arg258=) rs1555599197
NM_058216.3(RAD51C):c.775A>G (p.Thr259Ala) rs779954908
NM_058216.3(RAD51C):c.775A>T (p.Thr259Ser) rs779954908
NM_058216.3(RAD51C):c.778C>A (p.Arg260=)
NM_058216.3(RAD51C):c.779G>C (p.Arg260Pro) rs730881926
NM_058216.3(RAD51C):c.780G>T (p.Arg260=) rs1460932618
NM_058216.3(RAD51C):c.784T>C (p.Leu262=) rs149331537
NM_058216.3(RAD51C):c.784_787dup (p.Asn263fs)
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
NM_058216.3(RAD51C):c.785_786insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGTACTCGGTTATT (p.Leu262delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProPheTer) rs2143852568
NM_058216.3(RAD51C):c.788A>G (p.Asn263Ser) rs935771120
NM_058216.3(RAD51C):c.791G>T (p.Gly264Val) rs1283065191
NM_058216.3(RAD51C):c.793C>A (p.Leu265Ile) rs759072716
NM_058216.3(RAD51C):c.795del (p.Ala266fs) rs2143853617
NM_058216.3(RAD51C):c.797C>A (p.Ala266Asp) rs1555599239
NM_058216.3(RAD51C):c.797C>T (p.Ala266Val) rs1555599239
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
NM_058216.3(RAD51C):c.7G>C (p.Gly3Arg) rs376403182
NM_058216.3(RAD51C):c.7G>T (p.Gly3Trp) rs376403182
NM_058216.3(RAD51C):c.801G>A (p.Gln267=) rs2048499866
NM_058216.3(RAD51C):c.801G>C (p.Gln267His) rs2048499866
NM_058216.3(RAD51C):c.802C>A (p.Gln268Lys) rs1567799818
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter) rs1567799818
NM_058216.3(RAD51C):c.803A>G (p.Gln268Arg) rs1064794654
NM_058216.3(RAD51C):c.805A>G (p.Met269Val) rs878855181
NM_058216.3(RAD51C):c.805A>T (p.Met269Leu) rs878855181
NM_058216.3(RAD51C):c.808A>G (p.Ile270Val) rs1555599250
NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro) rs587781309
NM_058216.3(RAD51C):c.810C>G (p.Ile270Met) rs1555599252
NM_058216.3(RAD51C):c.811A>G (p.Ser271Gly) rs1555599256
NM_058216.3(RAD51C):c.812G>A (p.Ser271Asn) rs1060502596
NM_058216.3(RAD51C):c.814C>T (p.Leu272Phe)
NM_058216.3(RAD51C):c.816T>G (p.Leu272=) rs1598484799
NM_058216.3(RAD51C):c.817G>C (p.Ala273Pro) rs1598484818
NM_058216.3(RAD51C):c.818C>T (p.Ala273Val) rs1555599262
NM_058216.3(RAD51C):c.819A>C (p.Ala273=)
NM_058216.3(RAD51C):c.81G>T (p.Leu27=) rs1311969744
NM_058216.3(RAD51C):c.820A>G (p.Asn274Asp)
NM_058216.3(RAD51C):c.821A>G (p.Asn274Ser) rs1598484851
NM_058216.3(RAD51C):c.822T>G (p.Asn274Lys) rs2048501654
NM_058216.3(RAD51C):c.826C>A (p.His276Asn) rs1567799906
NM_058216.3(RAD51C):c.826C>T (p.His276Tyr) rs1567799906
NM_058216.3(RAD51C):c.827A>C (p.His276Pro) rs1567799913
NM_058216.3(RAD51C):c.82G>A (p.Val28Met) rs1060502587
NM_058216.3(RAD51C):c.82G>C (p.Val28Leu) rs1060502587
NM_058216.3(RAD51C):c.82dup (p.Val28fs) rs2143677258
NM_058216.3(RAD51C):c.830G>C (p.Arg277Thr)
NM_058216.3(RAD51C):c.831A>G (p.Arg277=)
NM_058216.3(RAD51C):c.831A>T (p.Arg277Ser)
NM_058216.3(RAD51C):c.833T>C (p.Leu278Ser) rs1555599274
NM_058216.3(RAD51C):c.835G>A (p.Ala279Thr)
NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro) rs587782507
NM_058216.3(RAD51C):c.836C>G (p.Ala279Gly) rs2048502472
NM_058216.3(RAD51C):c.837+11A>G rs2143855309
NM_058216.3(RAD51C):c.837+12C>G
NM_058216.3(RAD51C):c.837+12C>T
NM_058216.3(RAD51C):c.837+15G>A
NM_058216.3(RAD51C):c.837+16dup
NM_058216.3(RAD51C):c.837+17G>A
NM_058216.3(RAD51C):c.837+19A>G rs1433569356
NM_058216.3(RAD51C):c.837+1G>C rs760235677
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+1del rs1555599288
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.837+2dup rs2048502931
NM_058216.3(RAD51C):c.837+4A>G
NM_058216.3(RAD51C):c.837+4_837+7del rs727503760
NM_058216.3(RAD51C):c.837+4del rs1598484905
NM_058216.3(RAD51C):c.837+5G>A
NM_058216.3(RAD51C):c.837+5G>C rs1567799952
NM_058216.3(RAD51C):c.837+7A>G rs1555599293
NM_058216.3(RAD51C):c.837T>C (p.Ala279=)
NM_058216.3(RAD51C):c.838-14T>C
NM_058216.3(RAD51C):c.838-18T>A rs1567808119
NM_058216.3(RAD51C):c.838-19T>C rs542415157
NM_058216.3(RAD51C):c.838-20C>G rs766600284
NM_058216.3(RAD51C):c.838-2A>G rs748589398
NM_058216.3(RAD51C):c.838-2A>T rs748589398
NM_058216.3(RAD51C):c.838-4del
NM_058216.3(RAD51C):c.838-6T>C rs2143929546
NM_058216.3(RAD51C):c.838-9T>G rs1598503945
NM_058216.3(RAD51C):c.838G>A (p.Val280Ile) rs876660718
NM_058216.3(RAD51C):c.83dup (p.Ser29fs)
NM_058216.3(RAD51C):c.841A>G (p.Ile281Val) rs1439877158
NM_058216.3(RAD51C):c.850A>G (p.Asn284Asp) rs1555602090
NM_058216.3(RAD51C):c.851A>G (p.Asn284Ser) rs1555602095
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) rs1060502605
NM_058216.3(RAD51C):c.852T>G (p.Asn284Lys) rs2143930037
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016
NM_058216.3(RAD51C):c.854A>G (p.Gln285Arg) rs876660018
NM_058216.3(RAD51C):c.855G>C (p.Gln285His) rs876660369
NM_058216.3(RAD51C):c.855G>T (p.Gln285His) rs876660369
NM_058216.3(RAD51C):c.856A>G (p.Met286Val) rs1567808196
NM_058216.3(RAD51C):c.858G>C (p.Met286Ile) rs2048890830
NM_058216.3(RAD51C):c.859A>C (p.Thr287Pro) rs28363317
NM_058216.3(RAD51C):c.860del (p.Thr287fs) rs2143930383
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala) rs587781574
NM_058216.3(RAD51C):c.863C>G (p.Thr288Arg) rs2143930483
NM_058216.3(RAD51C):c.864A>G (p.Thr288=) rs1555602110
NM_058216.3(RAD51C):c.865A>G (p.Lys289Glu)
NM_058216.3(RAD51C):c.866A>G (p.Lys289Arg) rs1390237532
NM_058216.3(RAD51C):c.868A>T (p.Ile290Phe) rs2048891385
NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe) rs876659683
NM_058216.3(RAD51C):c.870T>G (p.Ile290Met) rs376402418
NM_058216.3(RAD51C):c.872A>T (p.Asp291Val) rs1555602124
NM_058216.3(RAD51C):c.873T>C (p.Asp291=) rs1288802398
NM_058216.3(RAD51C):c.873T>G (p.Asp291Glu) rs1288802398
NM_058216.3(RAD51C):c.874A>G (p.Arg292Gly) rs775208053
NM_058216.3(RAD51C):c.875G>A (p.Arg292Lys)
NM_058216.3(RAD51C):c.876A>C (p.Arg292Ser)
NM_058216.3(RAD51C):c.877A>C (p.Asn293His) rs1567808290
NM_058216.3(RAD51C):c.878A>G (p.Asn293Ser) rs1246031520
NM_058216.3(RAD51C):c.879T>C (p.Asn293=) rs1555602132
NM_058216.3(RAD51C):c.87T>C (p.Ser29=) rs786203249
NM_058216.3(RAD51C):c.883G>T (p.Ala295Ser) rs746571208
NM_058216.3(RAD51C):c.884C>A (p.Ala295Asp)
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly) rs1555602136
NM_058216.3(RAD51C):c.884C>T (p.Ala295Val) rs1555602136
NM_058216.3(RAD51C):c.886T>G (p.Leu296Val)
NM_058216.3(RAD51C):c.888G>A (p.Leu296=) rs370829773
NM_058216.3(RAD51C):c.88G>C (p.Ala30Pro) rs1331134740
NM_058216.3(RAD51C):c.88G>T (p.Ala30Ser) rs1331134740
NM_058216.3(RAD51C):c.890T>G (p.Leu297Arg) rs143026267
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.892G>A (p.Val298Ile)
NM_058216.3(RAD51C):c.894T>G (p.Val298=) rs1555602147
NM_058216.3(RAD51C):c.894dup (p.Pro299fs) rs2048893092
NM_058216.3(RAD51C):c.896C>T (p.Pro299Leu) rs878855182
NM_058216.3(RAD51C):c.898G>T (p.Ala300Ser) rs2048893581
NM_058216.3(RAD51C):c.899C>A (p.Ala300Glu) rs1444333199
NM_058216.3(RAD51C):c.89C>T (p.Ala30Val) rs1000113630
NM_058216.3(RAD51C):c.8G>A (p.Gly3Glu) rs1555591761
NM_058216.3(RAD51C):c.8G>C (p.Gly3Ala) rs1555591761
NM_058216.3(RAD51C):c.900A>G (p.Ala300=) rs776711046
NM_058216.3(RAD51C):c.903A>C (p.Leu301Phe) rs761799817
NM_058216.3(RAD51C):c.904+11A>T
NM_058216.3(RAD51C):c.904+13T>A rs2143932777
NM_058216.3(RAD51C):c.904+14C>T
NM_058216.3(RAD51C):c.904+17A>C rs760664998
NM_058216.3(RAD51C):c.904+1G>A rs1555602159
NM_058216.3(RAD51C):c.904+1G>T rs1555602159
NM_058216.3(RAD51C):c.904+21del
NM_058216.3(RAD51C):c.904+2T>C rs2143932427
NM_058216.3(RAD51C):c.904+3G>A
NM_058216.3(RAD51C):c.904+3G>T rs1290236617
NM_058216.3(RAD51C):c.904+4G>A
NM_058216.3(RAD51C):c.904+4G>T rs2048894318
NM_058216.3(RAD51C):c.904+6T>C rs1555602163
NM_058216.3(RAD51C):c.904+7A>C rs1555602171
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg) rs1555602158
NM_058216.3(RAD51C):c.904_904+11del
NM_058216.3(RAD51C):c.905-13T>G rs2049019457
NM_058216.3(RAD51C):c.905-14T>C
NM_058216.3(RAD51C):c.905-15G>C rs2143960875
NM_058216.3(RAD51C):c.905-16T>C
NM_058216.3(RAD51C):c.905-18T>G
NM_058216.3(RAD51C):c.905-18_905-16del rs757889102
NM_058216.3(RAD51C):c.905-1G>A rs2143961181
NM_058216.3(RAD51C):c.905-20A>G rs950351911
NM_058216.3(RAD51C):c.905-2A>G rs779582317
NM_058216.3(RAD51C):c.905-3C>T rs2143961087
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.905-4T>C rs2049020043
NM_058216.3(RAD51C):c.905-4T>G rs2049020043
NM_058216.3(RAD51C):c.905-5C>A
NM_058216.3(RAD51C):c.905-5C>G rs371968149
NM_058216.3(RAD51C):c.905-6T>C
NM_058216.3(RAD51C):c.905G>T (p.Gly302Val) rs786203304
NM_058216.3(RAD51C):c.906G>A (p.Gly302=) rs1598510954
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter) rs2143961266
NM_058216.3(RAD51C):c.909A>T (p.Glu303Asp) rs2049020875
NM_058216.3(RAD51C):c.90G>C (p.Ala30=)
NM_058216.3(RAD51C):c.910A>G (p.Ser304Gly) rs2143961390
NM_058216.3(RAD51C):c.910del (p.Ser304fs) rs1555603011
NM_058216.3(RAD51C):c.911G>T (p.Ser304Ile) rs1598510989
NM_058216.3(RAD51C):c.912T>C (p.Ser304=) rs876659009
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg) rs876659009
NM_058216.3(RAD51C):c.913T>C (p.Trp305Arg)
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter) rs2143961567
NM_058216.3(RAD51C):c.916G>A (p.Gly306Arg) rs587782733
NM_058216.3(RAD51C):c.917del (p.Gly306fs) rs2143961536
NM_058216.3(RAD51C):c.918A>G (p.Gly306=) rs2143961685
NM_058216.3(RAD51C):c.920A>G (p.His307Arg) rs2049021589
NM_058216.3(RAD51C):c.921T>A (p.His307Gln) rs2143961779
NM_058216.3(RAD51C):c.922G>A (p.Ala308Thr)
NM_058216.3(RAD51C):c.926C>T (p.Ala309Val)
NM_058216.3(RAD51C):c.927T>A (p.Ala309=)
NM_058216.3(RAD51C):c.927T>C (p.Ala309=) rs2143961955
NM_058216.3(RAD51C):c.929C>T (p.Thr310Ile) rs2049022193
NM_058216.3(RAD51C):c.92G>C (p.Gly31Ala)
NM_058216.3(RAD51C):c.930A>G (p.Thr310=) rs2049022328
NM_058216.3(RAD51C):c.932T>A (p.Ile311Lys) rs786203766
NM_058216.3(RAD51C):c.932T>C (p.Ile311Thr) rs786203766
NM_058216.3(RAD51C):c.933A>C (p.Ile311=) rs965621328
NM_058216.3(RAD51C):c.933A>T (p.Ile311=) rs965621328
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly) rs730881932
NM_058216.3(RAD51C):c.936G>A (p.Arg312=) rs1555603022
NM_058216.3(RAD51C):c.939A>C (p.Leu313=)
NM_058216.3(RAD51C):c.939A>G (p.Leu313=) rs786201953
NM_058216.3(RAD51C):c.93G>A (p.Gly31=) rs769255656
NM_058216.3(RAD51C):c.93G>T (p.Gly31=)
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_058216.3(RAD51C):c.941T>C (p.Ile314Thr) rs2143962436
NM_058216.3(RAD51C):c.946del (p.His316fs)
NM_058216.3(RAD51C):c.952G>A (p.Asp318Asn) rs876659875
NM_058216.3(RAD51C):c.952G>C (p.Asp318His) rs876659875
NM_058216.3(RAD51C):c.954C>T (p.Asp318=) rs876658677
NM_058216.3(RAD51C):c.955C>A (p.Arg319=) rs587781287
NM_058216.3(RAD51C):c.955C>G (p.Arg319Gly) rs587781287
NM_058216.3(RAD51C):c.958A>G (p.Lys320Glu) rs1567810482
NM_058216.3(RAD51C):c.959A>G (p.Lys320Arg) rs587780260
NM_058216.3(RAD51C):c.960G>A (p.Lys320=) rs864622395
NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn) rs864622395
NM_058216.3(RAD51C):c.961C>T (p.Gln321Ter) rs2143963184
NM_058216.3(RAD51C):c.962A>G (p.Gln321Arg) rs1555603052
NM_058216.3(RAD51C):c.964A>C (p.Arg322=) rs864622343
NM_058216.3(RAD51C):c.964del (p.Arg322fs) rs1555603056
NM_058216.3(RAD51C):c.965+10G>A rs759703406
NM_058216.3(RAD51C):c.965+18T>A
NM_058216.3(RAD51C):c.965+1G>A rs730881933
NM_058216.3(RAD51C):c.965+20_965+21delinsGT rs2049026490
NM_058216.3(RAD51C):c.965+21A>G rs752811386
NM_058216.3(RAD51C):c.965+28C>T
NM_058216.3(RAD51C):c.965+3C>G
NM_058216.3(RAD51C):c.965+5G>A rs774586107
NM_058216.3(RAD51C):c.965+6T>A
NM_058216.3(RAD51C):c.965+7A>G rs1170701075
NM_058216.3(RAD51C):c.965+867A>G
NM_058216.3(RAD51C):c.965+8C>G rs1598511379
NM_058216.3(RAD51C):c.965+8C>T
NM_058216.3(RAD51C):c.965G>A (p.Arg322Lys) rs1555603059
NM_058216.3(RAD51C):c.965G>C (p.Arg322Thr) rs1555603059
NM_058216.3(RAD51C):c.966-16C>A rs780961985
NM_058216.3(RAD51C):c.966-16_966-14del rs2144043621
NM_058216.3(RAD51C):c.966-17T>A rs2049467437
NM_058216.3(RAD51C):c.966-1G>A rs876658272
NM_058216.3(RAD51C):c.966-1G>T rs876658272
NM_058216.3(RAD51C):c.966-2A>G rs1436204606
NM_058216.3(RAD51C):c.966-3C>T rs1064796091
NM_058216.3(RAD51C):c.966-4G>A rs878855183
NM_058216.3(RAD51C):c.966-4G>C rs878855183
NM_058216.3(RAD51C):c.966-6A>G
NM_058216.3(RAD51C):c.966-9T>C
NM_058216.3(RAD51C):c.966G>A (p.Arg322=) rs1567817289
NM_058216.3(RAD51C):c.966G>T (p.Arg322Ser) rs1567817289
NM_058216.3(RAD51C):c.968T>G (p.Leu323Trp) rs587782045
NM_058216.3(RAD51C):c.969G>A (p.Leu323=) rs1598534877
NM_058216.3(RAD51C):c.96C>G (p.Phe32Leu) rs1228923241
NM_058216.3(RAD51C):c.971C>T (p.Ala324Val) rs2144044470
NM_058216.3(RAD51C):c.972A>G (p.Ala324=)
NM_058216.3(RAD51C):c.973A>G (p.Thr325Ala) rs1555605054
NM_058216.3(RAD51C):c.974C>T (p.Thr325Ile)
NM_058216.3(RAD51C):c.975A>C (p.Thr325=)
NM_058216.3(RAD51C):c.975A>G (p.Thr325=)
NM_058216.3(RAD51C):c.976T>C (p.Leu326=) rs2144044633
NM_058216.3(RAD51C):c.977T>C (p.Leu326Ser) rs749208768
NM_058216.3(RAD51C):c.977T>G (p.Leu326Trp) rs749208768
NM_058216.3(RAD51C):c.977_979del (p.Leu326del) rs2144044664
NM_058216.3(RAD51C):c.978G>C (p.Leu326Phe) rs770652503
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs) rs587780840
NM_058216.3(RAD51C):c.981C>A (p.Tyr327Ter) rs2144044910
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)
NM_058216.3(RAD51C):c.984G>A (p.Lys328=) rs2144045008
NM_058216.3(RAD51C):c.984G>C (p.Lys328Asn)
NM_058216.3(RAD51C):c.986C>T (p.Ser329Leu) rs1567817363
NM_058216.3(RAD51C):c.987A>T (p.Ser329=) rs876659303
NM_058216.3(RAD51C):c.988C>T (p.Pro330Ser) rs1555605068
NM_058216.3(RAD51C):c.989C>G (p.Pro330Arg) rs1567817392
NM_058216.3(RAD51C):c.989C>T (p.Pro330Leu) rs1567817392
NM_058216.3(RAD51C):c.990del (p.Ser331fs)
NM_058216.3(RAD51C):c.992G>A (p.Ser331Asn) rs786202681
NM_058216.3(RAD51C):c.992G>C (p.Ser331Thr)
NM_058216.3(RAD51C):c.992G>T (p.Ser331Ile) rs786202681
NM_058216.3(RAD51C):c.993C>A (p.Ser331Arg) rs2049471711
NM_058216.3(RAD51C):c.994C>A (p.Gln332Lys) rs1555605074
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074
NM_058216.3(RAD51C):c.999G>A (p.Lys333=) rs2049471981
NM_058216.3(RAD51C):c.999G>T (p.Lys333Asn) rs2049471981
NM_058216.3(RAD51C):c.99G>C (p.Gln33His) rs1598449381
NM_058216.3(RAD51C):c.99G>T (p.Gln33His) rs1598449381
NM_058216.3(RAD51C):c.9G>A (p.Gly3=) rs751117852
NM_058216.3(RAD51C):c.9G>T (p.Gly3=) rs751117852
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg) rs281875209
NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser) rs1567818058
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg) rs80338774
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)
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.194del (p.Gly65fs) rs80338769
NM_080669.6(SLC46A1):c.204_205del (p.Asn68fs) rs397515391
NM_080669.6(SLC46A1):c.23dup (p.Glu9fs) rs397515574
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) rs80338771
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_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) rs1597834560
NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)
NM_138477.4(CDAN1):c.*174G>C rs2061494783
NM_138477.4(CDAN1):c.*249GTTT[1] rs767935615
NM_138477.4(CDAN1):c.*539C>T rs1314999197
NM_138477.4(CDAN1):c.*600A>G rs886051155
NM_138477.4(CDAN1):c.*641G>T rs2061489811
NM_138477.4(CDAN1):c.*657A>G rs752891192
NM_138477.4(CDAN1):c.*680C>G rs965392126
NM_138477.4(CDAN1):c.*687G>C rs1245688161
NM_138477.4(CDAN1):c.*731C>A rs2061488733
NM_138477.4(CDAN1):c.*775AACA[1] rs531320636
NM_138477.4(CDAN1):c.*788G>T rs886051154
NM_138477.4(CDAN1):c.*827A>G rs573659922
NM_138477.4(CDAN1):c.*896T>C rs2061486806
NM_138477.4(CDAN1):c.*94T>C rs2061495632
NM_138477.4(CDAN1):c.1055_1056del (p.Leu352fs) rs2140505826
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) rs120074169
NM_138477.4(CDAN1):c.1138G>C (p.Val380Leu)
NM_138477.4(CDAN1):c.1180G>A (p.Glu394Lys)
NM_138477.4(CDAN1):c.1239T>A (p.Tyr413Ter) rs1336651679
NM_138477.4(CDAN1):c.1322C>T (p.Ala441Val) rs886051158
NM_138477.4(CDAN1):c.1340G>A (p.Arg447Gln)
NM_138477.4(CDAN1):c.134T>C (p.Leu45Pro)
NM_138477.4(CDAN1):c.1384G>A (p.Val462Met)
NM_138477.4(CDAN1):c.1448G>A (p.Ser483Asn)
NM_138477.4(CDAN1):c.1489AGCCAC[3] (p.497SH[3]) rs778227051
NM_138477.4(CDAN1):c.1507C>T (p.Arg503Trp) rs748862062
NM_138477.4(CDAN1):c.1587T>G (p.Asp529Glu)
NM_138477.4(CDAN1):c.1596dup (p.Met533fs) rs778822407
NM_138477.4(CDAN1):c.1606G>C (p.Ala536Pro)
NM_138477.4(CDAN1):c.1663A>G (p.Ser555Gly)
NM_138477.4(CDAN1):c.1681C>T (p.Pro561Ser)
NM_138477.4(CDAN1):c.169del (p.Phe56_Leu57insTer)
NM_138477.4(CDAN1):c.1715G>C (p.Arg572Thr)
NM_138477.4(CDAN1):c.1740-10T>A rs886051157
NM_138477.4(CDAN1):c.1740-20C>T
NM_138477.4(CDAN1):c.1740-6_1740-4del
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.1775G>A (p.Ser592Asn)
NM_138477.4(CDAN1):c.1790A>G (p.Glu597Gly) rs778169314
NM_138477.4(CDAN1):c.1819G>A (p.Glu607Lys)
NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys) rs775619948
NM_138477.4(CDAN1):c.1915T>C (p.Phe639Leu) rs2061603986
NM_138477.4(CDAN1):c.201G>T (p.Gln67His) rs2061692835
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
NM_138477.4(CDAN1):c.2045G>A (p.Arg682Gln)
NM_138477.4(CDAN1):c.2052G>A (p.Leu684=)
NM_138477.4(CDAN1):c.2060G>A (p.Arg687His)
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu) rs140334403
NM_138477.4(CDAN1):c.2080C>T (p.Pro694Ser) rs2061599288
NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)
NM_138477.4(CDAN1):c.2110G>A (p.Asp704Asn)
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp) rs138334226
NM_138477.4(CDAN1):c.2174+11C>T rs749464836
NM_138477.4(CDAN1):c.2185T>G (p.Leu729Val)
NM_138477.4(CDAN1):c.2186T>C (p.Leu729Ser)
NM_138477.4(CDAN1):c.2194G>A (p.Glu732Lys)
NM_138477.4(CDAN1):c.2229G>C (p.Leu743=)
NM_138477.4(CDAN1):c.222G>T (p.Lys74Asn)
NM_138477.4(CDAN1):c.226C>G (p.Pro76Ala)
NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
NM_138477.4(CDAN1):c.2353-18C>A
NM_138477.4(CDAN1):c.2357A>G (p.Asn786Ser)
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
NM_138477.4(CDAN1):c.2428G>A (p.Ala810Thr)
NM_138477.4(CDAN1):c.2428G>C (p.Ala810Pro) rs747975571
NM_138477.4(CDAN1):c.2439G>A (p.Val813=) rs2061577795
NM_138477.4(CDAN1):c.2464G>A (p.Gly822Ser) rs1193351243
NM_138477.4(CDAN1):c.2542-3C>G rs201401533
NM_138477.4(CDAN1):c.255G>A (p.Arg85=) rs886051159
NM_138477.4(CDAN1):c.257C>T (p.Pro86Leu) rs1442095399
NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)
NM_138477.4(CDAN1):c.2590C>T (p.Arg864Trp) rs746216798
NM_138477.4(CDAN1):c.2592_2596dup (p.Val866fs) rs1296421769
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) rs120074168
NM_138477.4(CDAN1):c.2605G>A (p.Val869Met) rs370895637
NM_138477.4(CDAN1):c.2645+2dup
NM_138477.4(CDAN1):c.2650A>C (p.Thr884Pro)
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)
NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)
NM_138477.4(CDAN1):c.274G>C (p.Gly92Arg) rs1051388342
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.2852_2853del (p.Glu951fs) rs2140471687
NM_138477.4(CDAN1):c.2861C>T (p.Pro954Leu)
NM_138477.4(CDAN1):c.2868+4C>T rs749746339
NM_138477.4(CDAN1):c.2887A>G (p.Asn963Asp)
NM_138477.4(CDAN1):c.2893G>T (p.Ala965Ser)
NM_138477.4(CDAN1):c.2939A>G (p.Asn980Ser)
NM_138477.4(CDAN1):c.2947G>C (p.Ala983Pro)
NM_138477.4(CDAN1):c.2975C>T (p.Ala992Val)
NM_138477.4(CDAN1):c.2984G>T (p.Arg995Leu)
NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)
NM_138477.4(CDAN1):c.3026A>G (p.Glu1009Gly)
NM_138477.4(CDAN1):c.3028C>G (p.Arg1010Gly)
NM_138477.4(CDAN1):c.3097-26_3097-20del
NM_138477.4(CDAN1):c.3106T>C (p.Ser1036Pro)
NM_138477.4(CDAN1):c.3119G>A (p.Gly1040Glu)
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu) rs146289653
NM_138477.4(CDAN1):c.3135C>T (p.Asp1045=) rs146289653
NM_138477.4(CDAN1):c.3136G>A (p.Glu1046Lys)
NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)
NM_138477.4(CDAN1):c.3189G>A (p.Thr1063=)
NM_138477.4(CDAN1):c.3199C>T (p.Arg1067Cys)
NM_138477.4(CDAN1):c.3205-5C>A rs772939236
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)
NM_138477.4(CDAN1):c.333C>T (p.Ala111=) rs1320661924
NM_138477.4(CDAN1):c.3416A>C (p.Asn1139Thr)
NM_138477.4(CDAN1):c.3476G>A (p.Arg1159Gln)
NM_138477.4(CDAN1):c.3597T>G (p.Phe1199Leu)
NM_138477.4(CDAN1):c.3604G>A (p.Glu1202Lys)
NM_138477.4(CDAN1):c.3658C>T (p.Arg1220Trp)
NM_138477.4(CDAN1):c.375G>A (p.Pro125=)
NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)
NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)
NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)
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.773+14G>A rs543228844
NM_138477.4(CDAN1):c.774-3T>C rs756901380
NM_138477.4(CDAN1):c.779A>G (p.Lys260Arg)
NM_138477.4(CDAN1):c.77C>T (p.Thr26Ile)
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
NM_138477.4(CDAN1):c.791A>C (p.Gln264Pro)
NM_138477.4(CDAN1):c.803C>G (p.Pro268Arg)
NM_138477.4(CDAN1):c.804C>A (p.Pro268=)
NM_138477.4(CDAN1):c.844C>T (p.Arg282Trp)
NM_138477.4(CDAN1):c.848C>G (p.Thr283Arg) rs1168958842
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)
NM_138477.4(CDAN1):c.88G>C (p.Glu30Gln)
NM_138477.4(CDAN1):c.890C>A (p.Ser297Tyr)
NM_138636.5(TLR8):c.1715G>T (p.Gly572Val) rs1385657144
NM_138636.5(TLR8):c.2498T>C (p.Phe833Ser) rs997809680
NM_148923.4(CYB5A):c.130-2A>G rs794728010
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_152633.4(FANCB):c.-70-3463_951dup
NM_172351.3(CD46):c.402T>G (p.Ile134Met) rs1553250568
NM_173469.4(UBE2Q2):c.884+2293G>A
NM_174936.3(PCSK9):c.-353G>T rs886046425
NM_174936.4(PCSK9):c.*1154C>A rs886046451
NM_174936.4(PCSK9):c.*1170_*1173dup rs377553033
NM_174936.4(PCSK9):c.*1229G>T rs886046453
NM_174936.4(PCSK9):c.*1247AAAC[2] rs368406783
NM_174936.4(PCSK9):c.*152G>T rs886046438
NM_174936.4(PCSK9):c.*274C>A rs886046439
NM_174936.4(PCSK9):c.*404G>A rs886046440
NM_174936.4(PCSK9):c.*404G>C rs886046440
NM_174936.4(PCSK9):c.*426C>A rs886046441
NM_174936.4(PCSK9):c.*448dup rs72646533
NM_174936.4(PCSK9):c.*464C>A rs886046442
NM_174936.4(PCSK9):c.*470G>A rs886046443
NM_174936.4(PCSK9):c.*488C>A rs886046444
NM_174936.4(PCSK9):c.*509C>A rs886046445
NM_174936.4(PCSK9):c.*58A>G rs886046437
NM_174936.4(PCSK9):c.*785C>A rs886046448
NM_174936.4(PCSK9):c.*78C>T rs757944328
NM_174936.4(PCSK9):c.*846G>T rs886046449
NM_174936.4(PCSK9):c.-180T>G rs886046431
NM_174936.4(PCSK9):c.-185A>G rs886046430
NM_174936.4(PCSK9):c.-200C>A rs886046429
NM_174936.4(PCSK9):c.-221T>G rs886046428
NM_174936.4(PCSK9):c.-237T>G rs886046427
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu) rs886046432
NM_181697.3(PRDX1):c.515-2A>T rs1379672870
NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly) rs1376457227
NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter) rs587776963
NM_182916.3(TRNT1):c.*2del (p.Ter435=) rs2126038625
NM_182916.3(TRNT1):c.1010C>A (p.Thr337Lys) rs1706134057
NM_182916.3(TRNT1):c.1012_1013del (p.Thr337_Asp338insTer)
NM_182916.3(TRNT1):c.1013A>G (p.Asp338Gly)
NM_182916.3(TRNT1):c.1013_1016del (p.Asp338fs)
NM_182916.3(TRNT1):c.1013_1016dup (p.Ser339delinsArgTer)
NM_182916.3(TRNT1):c.1021G>A (p.Asp341Asn) rs2126037069
NM_182916.3(TRNT1):c.1023C>T (p.Asp341=)
NM_182916.3(TRNT1):c.1027T>C (p.Leu343=)
NM_182916.3(TRNT1):c.1034C>T (p.Pro345Leu)
NM_182916.3(TRNT1):c.1038_1041dup (p.Asp348fs) rs1706137764
NM_182916.3(TRNT1):c.1043A>G (p.Asp348Gly) rs2126037130
NM_182916.3(TRNT1):c.1047C>T (p.Phe349=)
NM_182916.3(TRNT1):c.1051A>G (p.Ile351Val)
NM_182916.3(TRNT1):c.1052T>A (p.Ile351Lys) rs2126037168
NM_182916.3(TRNT1):c.1053_1054insT (p.Asp352Ter) rs2126037181
NM_182916.3(TRNT1):c.1055_1056+5del rs770760147
NM_182916.3(TRNT1):c.1056+13T>G
NM_182916.3(TRNT1):c.1056+14A>T
NM_182916.3(TRNT1):c.1056+1G>A rs369179242
NM_182916.3(TRNT1):c.1056+1G>T
NM_182916.3(TRNT1):c.1056+3A>C
NM_182916.3(TRNT1):c.1056+4_1056+7dup rs759496973
NM_182916.3(TRNT1):c.1056+6T>C
NM_182916.3(TRNT1):c.1056+6TA[2] rs1706140312
NM_182916.3(TRNT1):c.1057-16T>G
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.1057-7C>T rs368078167
NM_182916.3(TRNT1):c.1057-8A>G
NM_182916.3(TRNT1):c.1068T>C (p.Pro356=)
NM_182916.3(TRNT1):c.106G>A (p.Glu36Lys) rs1480255948
NM_182916.3(TRNT1):c.1078A>G (p.Thr360Ala)
NM_182916.3(TRNT1):c.1078A>T (p.Thr360Ser)
NM_182916.3(TRNT1):c.107A>G (p.Glu36Gly) rs138682354
NM_182916.3(TRNT1):c.1082G>A (p.Arg361His) rs527881651
NM_182916.3(TRNT1):c.1082G>T (p.Arg361Leu) rs527881651
NM_182916.3(TRNT1):c.1088G>C (p.Cys363Ser) rs773206803
NM_182916.3(TRNT1):c.1107A>G (p.Gln369=)
NM_182916.3(TRNT1):c.1110A>G (p.Gly370=) rs1706172038
NM_182916.3(TRNT1):c.1125A>G (p.Leu375=) rs2126038121
NM_182916.3(TRNT1):c.112C>G (p.Gln38Glu) rs1704825513
NM_182916.3(TRNT1):c.1135C>G (p.Gln379Glu)
NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter) rs606231291
NM_182916.3(TRNT1):c.1146C>T (p.Ser382=)
NM_182916.3(TRNT1):c.114G>C (p.Gln38His) rs2126002222
NM_182916.3(TRNT1):c.1150_1157del (p.Pro384fs)
NM_182916.3(TRNT1):c.1163dup (p.Ser389fs)
NM_182916.3(TRNT1):c.1167T>C (p.Ser389=)
NM_182916.3(TRNT1):c.1178T>A (p.Ile393Asn)
NM_182916.3(TRNT1):c.1178_1184del (p.Ile393fs) rs2126038227
NM_182916.3(TRNT1):c.1182A>T (p.Arg394Ser) rs2126038235
NM_182916.3(TRNT1):c.1183A>G (p.Lys395Glu) rs2126038239
NM_182916.3(TRNT1):c.1187T>C (p.Val396Ala)
NM_182916.3(TRNT1):c.118C>G (p.Leu40Val) rs908960894
NM_182916.3(TRNT1):c.1190del (p.Gly397fs) rs2126038249
NM_182916.3(TRNT1):c.1205A>G (p.Lys402Arg)
NM_182916.3(TRNT1):c.1205_1206dup (p.Glu403fs) rs1449106096
NM_182916.3(TRNT1):c.120T>G (p.Leu40=)
NM_182916.3(TRNT1):c.1211T>C (p.Ile404Thr) rs1706181879
NM_182916.3(TRNT1):c.1213G>A (p.Gly405Arg)
NM_182916.3(TRNT1):c.1213G>C (p.Gly405Arg)
NM_182916.3(TRNT1):c.1219C>T (p.Leu407=) rs1315353435
NM_182916.3(TRNT1):c.1223T>C (p.Leu408Ser)
NM_182916.3(TRNT1):c.1224ACA[3] (p.Gln410dup) rs2126038336
NM_182916.3(TRNT1):c.1225C>G (p.Gln409Glu)
NM_182916.3(TRNT1):c.1228C>T (p.Gln410Ter)
NM_182916.3(TRNT1):c.1234C>T (p.Arg412Ter)
NM_182916.3(TRNT1):c.1237G>A (p.Glu413Lys)
NM_182916.3(TRNT1):c.1240C>G (p.Gln414Glu) rs764603508
NM_182916.3(TRNT1):c.1247A>G (p.Lys416Arg) rs2126038415
NM_182916.3(TRNT1):c.1249A>G (p.Lys417Glu) rs751047325
NM_182916.3(TRNT1):c.1252_1253insT (p.Ser418fs) rs1706186945
NM_182916.3(TRNT1):c.1252del (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.1260C>A (p.Tyr420Ter)
NM_182916.3(TRNT1):c.1269A>C (p.Glu423Asp) rs777580759
NM_182916.3(TRNT1):c.1274A>G (p.Asp425Gly) rs146766859
NM_182916.3(TRNT1):c.1274A>T (p.Asp425Val) rs146766859
NM_182916.3(TRNT1):c.1276G>C (p.Glu426Gln)
NM_182916.3(TRNT1):c.1281T>C (p.Leu427=) rs2126038514
NM_182916.3(TRNT1):c.1281_1283dup (p.Leu428_Ser429insLeu)
NM_182916.3(TRNT1):c.1283T>C (p.Leu428Pro) rs2126038533
NM_182916.3(TRNT1):c.1284G>T (p.Leu428=) rs2126038544
NM_182916.3(TRNT1):c.1284_1287dup (p.Tyr430fs) rs1559232394
NM_182916.3(TRNT1):c.1286G>T (p.Ser429Ile) rs2126038555
NM_182916.3(TRNT1):c.128_130del (p.Glu43del) rs876661297
NM_182916.3(TRNT1):c.1290_1291insTTTAA (p.Ile431fs)
NM_182916.3(TRNT1):c.1291A>G (p.Ile431Val) rs142642881
NM_182916.3(TRNT1):c.1295AGA[1] (p.Lys433del) rs1575068543
NM_182916.3(TRNT1):c.1296G>T (p.Lys432Asn)
NM_182916.3(TRNT1):c.12C>T (p.Cys4=)
NM_182916.3(TRNT1):c.1300A>T (p.Thr434Ser)
NM_182916.3(TRNT1):c.140_141delinsTC (p.Ser47Ile)
NM_182916.3(TRNT1):c.148+12G>A rs1342768108
NM_182916.3(TRNT1):c.148+15T>C rs2126002342
NM_182916.3(TRNT1):c.148+20_148+29del
NM_182916.3(TRNT1):c.148+3G>A rs1575035691
NM_182916.3(TRNT1):c.148+7G>A
NM_182916.3(TRNT1):c.149-10C>G rs1247543296
NM_182916.3(TRNT1):c.149-6_149-2del
NM_182916.3(TRNT1):c.151T>A (p.Leu51Ile)
NM_182916.3(TRNT1):c.151_160del (p.Leu51fs)
NM_182916.3(TRNT1):c.155T>C (p.Phe52Ser) rs1705383984
NM_182916.3(TRNT1):c.15G>A (p.Leu5=)
NM_182916.3(TRNT1):c.165G>T (p.Glu55Asp)
NM_182916.3(TRNT1):c.168T>C (p.Asn56=)
NM_182916.3(TRNT1):c.171C>A (p.His57Gln) rs760080058
NM_182916.3(TRNT1):c.176_182del (p.Glu58_Leu59insTer)
NM_182916.3(TRNT1):c.179G>C (p.Arg60Thr)
NM_182916.3(TRNT1):c.179G>T (p.Arg60Ile) rs1283386278
NM_182916.3(TRNT1):c.182T>G (p.Ile61Arg) rs2126017364
NM_182916.3(TRNT1):c.185C>G (p.Ala62Gly) rs1430870230
NM_182916.3(TRNT1):c.198G>A (p.Val66=) rs2126017403
NM_182916.3(TRNT1):c.208T>G (p.Leu70Val) rs1705387323
NM_182916.3(TRNT1):c.212A>G (p.Asn71Ser)
NM_182916.3(TRNT1):c.215G>C (p.Gly72Ala) rs1267775202
NM_182916.3(TRNT1):c.222G>A (p.Lys74=)
NM_182916.3(TRNT1):c.233T>C (p.Ile78Thr) rs1553553306
NM_182916.3(TRNT1):c.234A>G (p.Ile78Met) rs2126017445
NM_182916.3(TRNT1):c.240del (p.Phe80fs) rs1297648080
NM_182916.3(TRNT1):c.250G>C (p.Ala84Pro) rs781277263
NM_182916.3(TRNT1):c.261T>C (p.Thr87=)
NM_182916.3(TRNT1):c.263_266del (p.Gln88fs) rs772722561
NM_182916.3(TRNT1):c.264A>G (p.Gln88=) rs1705392118
NM_182916.3(TRNT1):c.270G>A (p.Lys90=)
NM_182916.3(TRNT1):c.277T>A (p.Phe93Ile) rs2126017533
NM_182916.3(TRNT1):c.27C>G (p.His9Gln)
NM_182916.3(TRNT1):c.282G>T (p.Gln94His) rs527886866
NM_182916.3(TRNT1):c.285G>T (p.Ser95=)
NM_182916.3(TRNT1):c.288T>C (p.Ala96=) rs2126017561
NM_182916.3(TRNT1):c.293T>G (p.Ile98Ser)
NM_182916.3(TRNT1):c.296G>A (p.Arg99Gln) rs1392135239
NM_182916.3(TRNT1):c.31C>T (p.Pro11Ser)
NM_182916.3(TRNT1):c.324_330del (p.His108fs) rs776199133
NM_182916.3(TRNT1):c.335C>G (p.Thr112Ser)
NM_182916.3(TRNT1):c.339C>T (p.Ala113=) rs2126017687
NM_182916.3(TRNT1):c.342+10A>C rs771121037
NM_182916.3(TRNT1):c.342+17A>T rs1705398977
NM_182916.3(TRNT1):c.342+1G>T
NM_182916.3(TRNT1):c.342+20G>C
NM_182916.3(TRNT1):c.343-16A>G
NM_182916.3(TRNT1):c.343-20C>G
NM_182916.3(TRNT1):c.343-69_343-8del
NM_182916.3(TRNT1):c.348T>G (p.His116Gln) rs1705578519
NM_182916.3(TRNT1):c.361G>A (p.Glu121Lys) rs2126022941
NM_182916.3(TRNT1):c.368C>G (p.Thr123Ser) rs1278148249
NM_182916.3(TRNT1):c.36G>A (p.Val12=) rs1704814779
NM_182916.3(TRNT1):c.373del (p.Leu125fs) rs1553554007
NM_182916.3(TRNT1):c.384T>C (p.Asp128=) rs2126023030
NM_182916.3(TRNT1):c.389C>G (p.Thr130Ser) rs1705581594
NM_182916.3(TRNT1):c.391A>G (p.Thr131Ala)
NM_182916.3(TRNT1):c.395A>C (p.Asp132Ala) rs773948765
NM_182916.3(TRNT1):c.398G>T (p.Gly133Val) rs759253937
NM_182916.3(TRNT1):c.403C>T (p.His135Tyr) rs752478909
NM_182916.3(TRNT1):c.410A>C (p.Glu137Ala) rs1705583571
NM_182916.3(TRNT1):c.412G>A (p.Val138Ile) rs907649149
NM_182916.3(TRNT1):c.414A>T (p.Val138=)
NM_182916.3(TRNT1):c.422C>T (p.Thr141Ile) rs1276258304
NM_182916.3(TRNT1):c.428_431del (p.Asp143fs) rs1401711549
NM_182916.3(TRNT1):c.433C>T (p.Gln145Ter)
NM_182916.3(TRNT1):c.435G>T (p.Gln145His)
NM_182916.3(TRNT1):c.443C>G (p.Ala148Gly)
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_182916.3(TRNT1):c.444G>A (p.Ala148=)
NM_182916.3(TRNT1):c.460A>C (p.Thr154Pro) rs1233701431
NM_182916.3(TRNT1):c.462T>C (p.Thr154=) rs528296646
NM_182916.3(TRNT1):c.472A>G (p.Met158Val) rs771781629
NM_182916.3(TRNT1):c.478T>C (p.Leu160=)
NM_182916.3(TRNT1):c.481+15T>C
NM_182916.3(TRNT1):c.481+19dup
NM_182916.3(TRNT1):c.481+4A>G
NM_182916.3(TRNT1):c.481+5T>C rs761643814
NM_182916.3(TRNT1):c.482-4A>G
NM_182916.3(TRNT1):c.482-5A>G rs879788444
NM_182916.3(TRNT1):c.482-7T>C
NM_182916.3(TRNT1):c.482-8A>G rs1375077738
NM_182916.3(TRNT1):c.482-9A>C
NM_182916.3(TRNT1):c.484T>C (p.Phe162Leu) rs965848707
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser) rs606231289
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182916.3(TRNT1):c.499T>C (p.Phe167Leu) rs2126031119
NM_182916.3(TRNT1):c.501dup (p.Asp168Ter) rs1445182754
NM_182916.3(TRNT1):c.502G>C (p.Asp168His) rs746543080
NM_182916.3(TRNT1):c.509T>C (p.Phe170Ser)
NM_182916.3(TRNT1):c.510T>A (p.Phe170Leu) rs371733557
NM_182916.3(TRNT1):c.512dup (p.Asn171fs)
NM_182916.3(TRNT1):c.522A>G (p.Glu174=)
NM_182916.3(TRNT1):c.530A>G (p.Lys177Arg) rs1705869749
NM_182916.3(TRNT1):c.542_545del (p.Val181fs) rs769317780
NM_182916.3(TRNT1):c.544_545insAA (p.Arg182fs)
NM_182916.3(TRNT1):c.545G>A (p.Arg182Lys)
NM_182916.3(TRNT1):c.545G>C (p.Arg182Thr)
NM_182916.3(TRNT1):c.54T>C (p.Ser18=)
NM_182916.3(TRNT1):c.550G>A (p.Val184Ile) rs1705871121
NM_182916.3(TRNT1):c.555A>C (p.Gly185=)
NM_182916.3(TRNT1):c.556C>T (p.His186Tyr)
NM_182916.3(TRNT1):c.567G>A (p.Gln189=)
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile) rs606231287
NM_182916.3(TRNT1):c.569_570del (p.Arg190fs)
NM_182916.3(TRNT1):c.578A>G (p.Glu193Gly)
NM_182916.3(TRNT1):c.581A>G (p.Asp194Gly) rs754316396
NM_182916.3(TRNT1):c.586C>G (p.Leu196Val)
NM_182916.3(TRNT1):c.592A>C (p.Ile198Leu) rs757780903
NM_182916.3(TRNT1):c.598A>C (p.Arg200=)
NM_182916.3(TRNT1):c.59T>C (p.Leu20Pro) rs1704816332
NM_182916.3(TRNT1):c.5_12del (p.Leu2fs)
NM_182916.3(TRNT1):c.608+1G>A rs529290186
NM_182916.3(TRNT1):c.608+6A>G rs747803738
NM_182916.3(TRNT1):c.608+6A>T rs747803738
NM_182916.3(TRNT1):c.608+7A>G rs2126031354
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys) rs750995691
NM_182916.3(TRNT1):c.609-4G>C
NM_182916.3(TRNT1):c.609-7C>T
NM_182916.3(TRNT1):c.609G>A (p.Arg203=) rs1706023403
NM_182916.3(TRNT1):c.60G>A (p.Leu20=) rs2126002041
NM_182916.3(TRNT1):c.60G>T (p.Leu20=) rs2126002041
NM_182916.3(TRNT1):c.611T>G (p.Phe204Cys) rs1706023542
NM_182916.3(TRNT1):c.624T>A (p.Ile208=) rs367981406
NM_182916.3(TRNT1):c.624T>G (p.Ile208Met) rs367981406
NM_182916.3(TRNT1):c.631A>C (p.Lys211Gln) rs372027157
NM_182916.3(TRNT1):c.632A>G (p.Lys211Arg)
NM_182916.3(TRNT1):c.638G>T (p.Gly213Val) rs745817126
NM_182916.3(TRNT1):c.63C>T (p.Cys21=) rs1307913419
NM_182916.3(TRNT1):c.640G>A (p.Asp214Asn)
NM_182916.3(TRNT1):c.647A>G (p.Asp216Gly) rs2126034760
NM_182916.3(TRNT1):c.649C>T (p.Pro217Ser) rs775586520
NM_182916.3(TRNT1):c.64C>T (p.Leu22Phe) rs965646183
NM_182916.3(TRNT1):c.667del (p.Ile223fs)
NM_182916.3(TRNT1):c.669T>G (p.Ile223Met) rs2126034798
NM_182916.3(TRNT1):c.671C>T (p.Ala224Val) rs2126034803
NM_182916.3(TRNT1):c.679G>T (p.Ala227Ser) rs2126034812
NM_182916.3(TRNT1):c.67_68delinsGT (p.Pro23Val) rs1575035403
NM_182916.3(TRNT1):c.67_68delinsTT (p.Pro23Leu)
NM_182916.3(TRNT1):c.686G>A (p.Gly229Asp) rs773514953
NM_182916.3(TRNT1):c.686G>C (p.Gly229Ala) rs773514953
NM_182916.3(TRNT1):c.689_693del (p.Leu230fs)
NM_182916.3(TRNT1):c.692C>G (p.Ala231Gly) rs1428349978
NM_182916.3(TRNT1):c.693T>A (p.Ala231=) rs2126034848
NM_182916.3(TRNT1):c.700T>G (p.Ser234Ala) rs763684893
NM_182916.3(TRNT1):c.710G>A (p.Arg237Lys) rs2126034891
NM_182916.3(TRNT1):c.711del (p.Ile238fs) rs2126034894
NM_182916.3(TRNT1):c.724C>G (p.Leu242Val) rs1022234414
NM_182916.3(TRNT1):c.733dup (p.Ile245fs) rs1706032688
NM_182916.3(TRNT1):c.736C>T (p.Leu246Phe) rs1575064652
NM_182916.3(TRNT1):c.739G>T (p.Val247Phe) rs1456113852
NM_182916.3(TRNT1):c.73C>A (p.Gln25Lys)
NM_182916.3(TRNT1):c.73C>T (p.Gln25Ter) rs1415152805
NM_182916.3(TRNT1):c.742G>A (p.Gly248Ser)
NM_182916.3(TRNT1):c.747C>T (p.Asn249=) rs2126034966
NM_182916.3(TRNT1):c.74A>G (p.Gln25Arg)
NM_182916.3(TRNT1):c.756T>C (p.Asn252=) rs2126034983
NM_182916.3(TRNT1):c.75G>T (p.Gln25His) rs754086954
NM_182916.3(TRNT1):c.766C>A (p.His256Asn)
NM_182916.3(TRNT1):c.768C>T (p.His256=) rs1411916026
NM_182916.3(TRNT1):c.772A>G (p.Ile258Val) rs769964961
NM_182916.3(TRNT1):c.774C>G (p.Ile258Met)
NM_182916.3(TRNT1):c.774C>T (p.Ile258=)
NM_182916.3(TRNT1):c.776A>G (p.Tyr259Cys)
NM_182916.3(TRNT1):c.778del (p.Asp260fs) rs1433432612
NM_182916.3(TRNT1):c.779A>G (p.Asp260Gly) rs1706037095
NM_182916.3(TRNT1):c.791C>G (p.Ala264Gly)
NM_182916.3(TRNT1):c.795T>C (p.Pro265=) rs1174186377
NM_182916.3(TRNT1):c.798T>C (p.Tyr266=)
NM_182916.3(TRNT1):c.79C>G (p.Leu27Val)
NM_182916.3(TRNT1):c.79C>T (p.Leu27=)
NM_182916.3(TRNT1):c.800T>C (p.Ile267Thr)
NM_182916.3(TRNT1):c.802+15T>C
NM_182916.3(TRNT1):c.802+16A>C
NM_182916.3(TRNT1):c.802+16A>G rs755030575
NM_182916.3(TRNT1):c.802+18dup
NM_182916.3(TRNT1):c.802+19G>A
NM_182916.3(TRNT1):c.802+19G>C rs2126035131
NM_182916.3(TRNT1):c.802+20T>C
NM_182916.3(TRNT1):c.802+20T>G rs2126035135
NM_182916.3(TRNT1):c.802+22_802+25del rs758901089
NM_182916.3(TRNT1):c.802+5G>C
NM_182916.3(TRNT1):c.802+6A>G rs1706039327
NM_182916.3(TRNT1):c.803-10G>A
NM_182916.3(TRNT1):c.803-10G>T rs776053995
NM_182916.3(TRNT1):c.803-14T>C
NM_182916.3(TRNT1):c.803-17T>C
NM_182916.3(TRNT1):c.809del (p.Pro270fs) rs2126036604
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu) rs527331900
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) rs1553555777
NM_182916.3(TRNT1):c.815A>T (p.Asn272Ile) rs2126036638
NM_182916.3(TRNT1):c.816T>C (p.Asn272=) rs2126036642
NM_182916.3(TRNT1):c.81A>T (p.Leu27=)
NM_182916.3(TRNT1):c.820A>C (p.Ser274Arg) rs1446360172
NM_182916.3(TRNT1):c.824T>C (p.Leu275Ser)
NM_182916.3(TRNT1):c.837C>T (p.Asp279=)
NM_182916.3(TRNT1):c.843C>T (p.Val281=)
NM_182916.3(TRNT1):c.847A>T (p.Lys283Ter) rs749437475
NM_182916.3(TRNT1):c.851dup (p.Asn284fs) rs2126036713
NM_182916.3(TRNT1):c.852T>C (p.Asn284=)
NM_182916.3(TRNT1):c.854T>C (p.Val285Ala)
NM_182916.3(TRNT1):c.856G>A (p.Asp286Asn)
NM_182916.3(TRNT1):c.857A>G (p.Asp286Gly)
NM_182916.3(TRNT1):c.865del (p.Ser289fs) rs1575066836
NM_182916.3(TRNT1):c.876A>G (p.Pro292=)
NM_182916.3(TRNT1):c.883C>G (p.Leu295Val) rs2126036773
NM_182916.3(TRNT1):c.886T>C (p.Leu296=)
NM_182916.3(TRNT1):c.894A>G (p.Ser298=) rs772847879
NM_182916.3(TRNT1):c.895T>A (p.Leu299Ile)
NM_182916.3(TRNT1):c.898T>G (p.Phe300Val) rs1706126293
NM_182916.3(TRNT1):c.906A>G (p.Val302=)
NM_182916.3(TRNT1):c.907C>G (p.Gln303Glu) rs1706127064
NM_182916.3(TRNT1):c.909A>C (p.Gln303His)
NM_182916.3(TRNT1):c.912T>C (p.Asp304=) rs2126036829
NM_182916.3(TRNT1):c.925T>G (p.Leu309Val) rs985101465
NM_182916.3(TRNT1):c.928G>T (p.Asp310Tyr) rs2126036850
NM_182916.3(TRNT1):c.931T>C (p.Leu311=) rs2126036862
NM_182916.3(TRNT1):c.939G>T (p.Leu313Phe)
NM_182916.3(TRNT1):c.943A>G (p.Ile315Val)
NM_182916.3(TRNT1):c.947_948inv (p.Ala316Val)
NM_182916.3(TRNT1):c.948A>C (p.Ala316=) rs1705805
NM_182916.3(TRNT1):c.948_949delinsGG (p.Lys317Glu) rs1706130150
NM_182916.3(TRNT1):c.968G>A (p.Gly323Asp) rs2126036942
NM_182916.3(TRNT1):c.970T>G (p.Leu324Val)
NM_182916.3(TRNT1):c.971T>G (p.Leu324Ter)
NM_182916.3(TRNT1):c.974_977del (p.Leu324_Phe325insTer) rs1249830698
NM_182916.3(TRNT1):c.989G>A (p.Arg330Lys)
NM_182916.3(TRNT1):c.993A>G (p.Lys331=)
NM_182916.3(TRNT1):c.993A>T (p.Lys331Asn) rs1706133107
NM_182916.3(TRNT1):c.994G>C (p.Asp332His) rs1553555848
NM_182916.3(TRNT1):c.996_999del (p.Asp332fs) rs769331677
NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr) rs2150610519
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu) rs917466219
NM_182922.4(HEATR3):c.399+1G>T rs2150594383
NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg) rs1184398890
NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu) rs2150600578
NM_198253.3(TERT):c.*308A>G rs1747469600
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1401C>T (p.Ala467=) rs1751126189
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala) rs1749859084
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2523C>G (p.Leu841=) rs1554039733
NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.3(TERT):c.2626C>A (p.His876Asn) rs1483412488
NM_198253.3(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.483G>C (p.Leu161=) rs755155708
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.3(TERT):c.696G>T (p.Leu232=) rs1033402019
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198253.3(TERT):c.875C>G (p.Thr292Arg) rs1751193051
NM_198253.3(TERT):c.908A>T (p.His303Leu) rs1751187792
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_198535.3(ZNF699):c.175+1G>A rs749115647
NM_203342.2(EPB41):c.-159_159del
NM_206965.2(FTCD):c.1002C>G (p.Gly334=)
NM_206965.2(FTCD):c.1016C>A (p.Ser339Tyr) rs775567630
NM_206965.2(FTCD):c.1032G>C (p.Val344=) rs373127146
NM_206965.2(FTCD):c.1068_1098+24del
NM_206965.2(FTCD):c.1076T>G (p.Val359Gly)
NM_206965.2(FTCD):c.1077GGC[2] (p.Ala365del) rs780057373
NM_206965.2(FTCD):c.1078G>A (p.Ala360Thr)
NM_206965.2(FTCD):c.1097T>C (p.Met366Thr)
NM_206965.2(FTCD):c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG rs2123530066
NM_206965.2(FTCD):c.1098+20C>A
NM_206965.2(FTCD):c.1099-20dup rs541370678
NM_206965.2(FTCD):c.1103C>T (p.Ala368Val) rs1033001525
NM_206965.2(FTCD):c.1138G>A (p.Gly380Arg)
NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)
NM_206965.2(FTCD):c.1252G>A (p.Ala418Thr)
NM_206965.2(FTCD):c.1261-18T>A
NM_206965.2(FTCD):c.1261-1G>A
NM_206965.2(FTCD):c.1261-8T>C rs2123483793
NM_206965.2(FTCD):c.1287A>C (p.Thr429=)
NM_206965.2(FTCD):c.1293G>C (p.Glu431Asp) rs769728202
NM_206965.2(FTCD):c.1302C>T (p.Asp434=)
NM_206965.2(FTCD):c.1304+16C>T rs181554544
NM_206965.2(FTCD):c.1311GGC[1] (p.Ala439del) rs2123482286
NM_206965.2(FTCD):c.1312G>A (p.Ala438Thr) rs1162672679
NM_206965.2(FTCD):c.1317C>T (p.Ala439=) rs377363402
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.1383G>T (p.Leu461=) rs781255845
NM_206965.2(FTCD):c.1389G>A (p.Pro463=)
NM_206965.2(FTCD):c.1391_1392delinsTG (p.Ala464Val) rs2123481486
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179
NM_206965.2(FTCD):c.140C>G (p.Thr47Ser)
NM_206965.2(FTCD):c.1443+17del
NM_206965.2(FTCD):c.1443+4dup rs372045405
NM_206965.2(FTCD):c.1443+9del rs372045405
NM_206965.2(FTCD):c.1465A>T (p.Met489Leu)
NM_206965.2(FTCD):c.1497C>T (p.Leu499=)
NM_206965.2(FTCD):c.1514T>C (p.Ile505Thr)
NM_206965.2(FTCD):c.151T>G (p.Phe51Val)
NM_206965.2(FTCD):c.1521C>G (p.Asp507Glu) rs141582814
NM_206965.2(FTCD):c.1522G>A (p.Glu508Lys)
NM_206965.2(FTCD):c.1539+4_1539+11del rs755855475
NM_206965.2(FTCD):c.1540-17_1540-16del rs747091513
NM_206965.2(FTCD):c.1540-6C>T
NM_206965.2(FTCD):c.1545C>T (p.His515=) rs1447286926
NM_206965.2(FTCD):c.1563C>T (p.Leu521=)
NM_206965.2(FTCD):c.1574C>T (p.Ala525Val)
NM_206965.2(FTCD):c.1591C>A (p.Leu531Met)
NM_206965.2(FTCD):c.1608G>A (p.Leu536=)
NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp) rs756994444
NM_206965.2(FTCD):c.171C>T (p.Cys57=)
NM_206965.2(FTCD):c.176T>G (p.Val59Gly)
NM_206965.2(FTCD):c.198C>T (p.Ala66=) rs1601356124
NM_206965.2(FTCD):c.214C>T (p.Leu72Phe) rs1378684756
NM_206965.2(FTCD):c.219C>T (p.Ile73=)
NM_206965.2(FTCD):c.220G>A (p.Asp74Asn)
NM_206965.2(FTCD):c.224T>C (p.Met75Thr) rs2123584379
NM_206965.2(FTCD):c.239-12G>A
NM_206965.2(FTCD):c.266A>G (p.Asp89Gly)
NM_206965.2(FTCD):c.293dup (p.Val99fs) rs1310075515
NM_206965.2(FTCD):c.322G>A (p.Ala108Thr)
NM_206965.2(FTCD):c.367+11C>T
NM_206965.2(FTCD):c.367+16C>T
NM_206965.2(FTCD):c.367+16dup rs746412155
NM_206965.2(FTCD):c.367+17del
NM_206965.2(FTCD):c.367+18C>G
NM_206965.2(FTCD):c.367+6C>T
NM_206965.2(FTCD):c.368-14G>A
NM_206965.2(FTCD):c.368-17G>A rs61688555
NM_206965.2(FTCD):c.372C>G (p.Tyr124Ter)
NM_206965.2(FTCD):c.378C>G (p.Tyr126Ter) rs374724805
NM_206965.2(FTCD):c.378C>T (p.Tyr126=) rs374724805
NM_206965.2(FTCD):c.379G>A (p.Gly127Ser) rs766010122
NM_206965.2(FTCD):c.418G>C (p.Ala140Pro)
NM_206965.2(FTCD):c.456+14G>A
NM_206965.2(FTCD):c.456+17C>T
NM_206965.2(FTCD):c.468C>T (p.Ala156=)
NM_206965.2(FTCD):c.469G>A (p.Asp157Asn) rs532226691
NM_206965.2(FTCD):c.469G>T (p.Asp157Tyr) rs532226691
NM_206965.2(FTCD):c.471C>T (p.Asp157=)
NM_206965.2(FTCD):c.528G>A (p.Thr176=)
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu) rs760709342
NM_206965.2(FTCD):c.54+10G>A
NM_206965.2(FTCD):c.54+14A>T
NM_206965.2(FTCD):c.54+9C>T
NM_206965.2(FTCD):c.55-14G>T
NM_206965.2(FTCD):c.55-16C>T
NM_206965.2(FTCD):c.597C>T (p.Ile199=)
NM_206965.2(FTCD):c.60C>T (p.Ile20=)
NM_206965.2(FTCD):c.610C>T (p.Arg204Trp)
NM_206965.2(FTCD):c.624C>T (p.Arg208=) rs775966116
NM_206965.2(FTCD):c.636+5C>T
NM_206965.2(FTCD):c.637-14C>T
NM_206965.2(FTCD):c.64G>A (p.Ala22Thr)
NM_206965.2(FTCD):c.654A>G (p.Lys218=)
NM_206965.2(FTCD):c.661G>A (p.Gly221Ser)
NM_206965.2(FTCD):c.712C>A (p.Leu238Ile)
NM_206965.2(FTCD):c.766_767del (p.Glu256fs) rs1568979227
NM_206965.2(FTCD):c.774+7C>G
NM_206965.2(FTCD):c.774+9G>A
NM_206965.2(FTCD):c.775-20C>T
NM_206965.2(FTCD):c.862_864del (p.Lys288del) rs1321726682
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) rs119469015
NM_206965.2(FTCD):c.969-15_969-14delinsTT rs796677845
NM_206965.2(FTCD):c.984G>C (p.Glu328Asp) rs982953507
NM_206965.2(FTCD):c.987C>G (p.Arg329=)
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_206965.2(FTCD):c.997del (p.Arg333fs) rs1568974130
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
NR_001566.1(TERC):n.-100C>G rs199422256
NR_001566.1(TERC):n.110_113del rs199422270
NR_001566.1(TERC):n.117A>C rs199422273
NR_001566.1(TERC):n.178G>A rs199422275
NR_001566.1(TERC):n.180C>T rs199422276
NR_001566.1(TERC):n.28_34del rs199422259
NR_001566.1(TERC):n.305G>A rs199422279
NR_001566.1(TERC):n.322G>A rs199422280
NR_001566.1(TERC):n.323C>T rs199422281
NR_001566.1(TERC):n.391_392del rs199422283
NR_001566.1(TERC):n.72C>G rs199422265
PKLR, 1-BP DEL
RPL5, 5-BP DEL/39-BP INS, NT498
Single allele
UROS, 80-BP INS
m.6721T>C rs199476127
m.6742T>C rs199476126

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