ClinVar Miner

List of variants studied for hematologic disorder by Sema4, Sema4

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 692
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HGVS dbSNP gnomAD frequency
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798 0.01679
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085 0.00810
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val) rs149125003 0.00450
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu) rs140892471 0.00307
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) rs61757385 0.00285
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) rs142903218 0.00221
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
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_001018115.3(FANCD2):c.4281+115C>A rs78896323 0.00179
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu) rs140088149 0.00173
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00172
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482 0.00166
NM_000135.4(FANCA):c.1360-10C>G rs150836356 0.00165
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn) rs111944585 0.00158
NM_018062.4(FANCL):c.817T>C (p.Leu273=) rs61753272 0.00156
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val) rs114549781 0.00150
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_004629.2(FANCG):c.646+12A>G rs17878604 0.00139
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801 0.00137
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_032444.4(SLX4):c.422G>T (p.Gly141Val) rs77306735 0.00131
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233 0.00124
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) rs149803148 0.00121
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr) rs143936557 0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly) rs116736407 0.00113
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=) rs150097733 0.00112
NM_000135.4(FANCA):c.80-13C>T rs189841793 0.00110
NM_018062.4(FANCL):c.402T>C (p.Ser134=) rs145284589 0.00110
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
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_032444.4(SLX4):c.2047G>A (p.Ala683Thr) rs115866745 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341 0.00089
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys) rs144832924 0.00078
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314 0.00076
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
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_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_032444.4(SLX4):c.2667A>G (p.Gln889=) rs146790631 0.00066
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397 0.00064
NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=) rs181219364 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098 0.00062
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_032444.4(SLX4):c.339T>C (p.Ser113=) rs144326379 0.00061
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123 0.00058
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile) rs138398760 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_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
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_032444.4(SLX4):c.2844G>A (p.Ala948=) rs376877866 0.00053
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile) rs145533919 0.00052
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917 0.00051
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr) rs140534765 0.00051
NM_022725.4(FANCF):c.385C>G (p.Leu129Val) rs61753271 0.00051
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106 0.00051
NM_000135.4(FANCA):c.4261-8T>G rs372268907 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_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 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_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809 0.00047
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_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met) rs145353518 0.00046
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_022725.4(FANCF):c.633G>T (p.Gln211His) rs146975768 0.00045
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_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu) rs150216454 0.00041
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299 0.00041
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00038
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070 0.00038
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 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_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser) rs771897046 0.00035
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=) rs371915501 0.00034
NM_022725.4(FANCF):c.91G>A (p.Val31Met) rs11556562 0.00034
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365 0.00034
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_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_000135.4(FANCA):c.3792C>T (p.Ser1264=) rs141128234 0.00030
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_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) rs373461068 0.00029
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) rs149223439 0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_021922.3(FANCE):c.1116C>T (p.Ile372=) rs143234424 0.00027
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119 0.00026
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_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp) rs556217576 0.00025
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571 0.00024
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656 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_001018115.3(FANCD2):c.2181G>A (p.Pro727=) rs560600678 0.00023
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) rs374019283 0.00023
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00021
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_022725.4(FANCF):c.465A>T (p.Pro155=) rs201215734 0.00020
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_000136.3(FANCC):c.-79+7G>T rs551170090 0.00019
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala) rs139025231 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.3419C>T (p.Thr1140Ile) rs142969866 0.00019
NM_021922.3(FANCE):c.1114-4G>A rs368422520 0.00019
NM_022725.4(FANCF):c.21C>T (p.His7=) rs199867555 0.00019
NM_032444.4(SLX4):c.1389A>G (p.Lys463=) rs376668879 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_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_018062.4(FANCL):c.580A>G (p.Ile194Val) rs542006141 0.00018
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile) rs188375397 0.00017
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=) rs142477564 0.00017
NM_000135.4(FANCA):c.1226-13G>C rs377159744 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys) rs200971205 0.00016
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_018062.4(FANCL):c.387G>A (p.Ala129=) rs141400460 0.00016
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192 0.00016
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287 0.00015
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650 0.00014
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=) rs147934193 0.00013
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu) rs149726602 0.00013
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_000135.4(FANCA):c.4261-9C>G rs368506826 0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=) rs199627578 0.00012
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.3168C>T (p.Leu1056=) rs377633991 0.00011
NM_000136.3(FANCC):c.522-4A>G rs371422485 0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val) rs766098612 0.00011
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616 0.00011
NM_018062.4(FANCL):c.706A>G (p.Ile236Val) rs762904548 0.00011
NM_032444.4(SLX4):c.1925-13A>T rs201324113 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_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581 0.00010
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001018115.3(FANCD2):c.165A>G (p.Ser55=) rs543455922 0.00010
NM_001113378.2(FANCI):c.2890-13C>T rs377269890 0.00010
NM_004629.2(FANCG):c.729T>C (p.Pro243=) rs199736443 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.73G>A (p.Gly25Arg) rs201533738 0.00010
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.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 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.1589T>C (p.Leu530Ser) rs766809608 0.00009
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) rs539583288 0.00009
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro) rs150075366 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_021922.3(FANCE):c.1317-11C>T rs147572271 0.00009
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218 0.00008
NM_000135.4(FANCA):c.709+9A>G rs371624767 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.362G>A (p.Arg121His) rs142289802 0.00008
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
NM_000135.4(FANCA):c.1006+4G>C rs201771215 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_001018115.3(FANCD2):c.1200C>A (p.Asp400Glu) rs755295382 0.00007
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly) rs773580818 0.00007
NM_032444.4(SLX4):c.1701C>T (p.Pro567=) rs776750571 0.00007
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=) rs3810814 0.00007
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=) rs368388100 0.00007
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.2778+83C>T rs750997715 0.00006
NM_000135.4(FANCA):c.3349-3C>T rs373861415 0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848 0.00006
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983 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_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_001018115.3(FANCD2):c.4186-13C>T rs755767180 0.00006
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) rs933284199 0.00006
NM_004629.2(FANCG):c.968T>C (p.Ile323Thr) rs752346718 0.00006
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp) rs772025061 0.00006
NM_021922.3(FANCE):c.1062T>C (p.Asp354=) rs377505032 0.00006
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589 0.00006
NM_032444.4(SLX4):c.1442G>A (p.Arg481Gln) rs145194745 0.00006
NM_032444.4(SLX4):c.2949C>T (p.Tyr983=) rs758944750 0.00006
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=) rs139254595 0.00006
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.2015-5C>T rs780349960 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys) rs185822330 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val) rs201408009 0.00005
NM_001018115.3(FANCD2):c.4296C>T (p.Asp1432=) rs202028246 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp) rs371568506 0.00005
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser) rs573652425 0.00005
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys) rs759314410 0.00005
NM_018062.4(FANCL):c.343A>G (p.Ile115Val) rs149414332 0.00005
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr) rs768911543 0.00005
NM_032444.4(SLX4):c.-602-6C>G rs886051986 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.3701C>T (p.Ala1234Val) rs186036075 0.00005
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102 0.00005
NM_032444.4(SLX4):c.461G>A (p.Arg154Gln) rs778404827 0.00005
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro) rs199838670 0.00005
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys) rs371875095 0.00005
NM_000135.4(FANCA):c.1007-6C>T rs770125368 0.00004
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171 0.00004
NM_000135.4(FANCA):c.1799G>A (p.Arg600His) rs775917892 0.00004
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) rs1055448646 0.00004
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu) rs576079738 0.00004
NM_000135.4(FANCA):c.596+6G>A rs369548513 0.00004
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963 0.00004
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 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_001018115.3(FANCD2):c.1363A>G (p.Ser455Gly) rs112902928 0.00004
NM_001018115.3(FANCD2):c.4281+107T>C rs767893462 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.2419A>G (p.Met807Val) rs750348956 0.00004
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=) rs145665176 0.00004
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=) rs185771112 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_018062.4(FANCL):c.622G>A (p.Asp208Asn) rs199564543 0.00004
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg) rs996436646 0.00004
NM_022725.4(FANCF):c.446A>G (p.Asn149Ser) rs377309460 0.00004
NM_022725.4(FANCF):c.714C>T (p.Val238=) rs774956968 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.2346C>T (p.Leu782=) rs775150046 0.00004
NM_032444.4(SLX4):c.2490G>A (p.Ala830=) rs753595071 0.00004
NM_032444.4(SLX4):c.4864C>G (p.Gln1622Glu) rs1009469961 0.00004
NM_032444.4(SLX4):c.4964G>A (p.Arg1655Lys) rs149726415 0.00004
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu) rs199929086 0.00004
NM_032444.4(SLX4):c.950+3G>T rs748822509 0.00004
NM_000135.4(FANCA):c.2222+9G>C rs774316742 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_000135.4(FANCA):c.3349-11C>A rs1190325114 0.00003
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) rs780116069 0.00003
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) rs375412395 0.00003
NM_001018115.3(FANCD2):c.2361T>G (p.Phe787Leu) rs765365413 0.00003
NM_001018115.3(FANCD2):c.3973C>A (p.Leu1325Met) rs555539811 0.00003
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly) rs200007225 0.00003
NM_001113378.2(FANCI):c.1699-11C>T rs753750358 0.00003
NM_001113378.2(FANCI):c.2781T>G (p.Ile927Met) rs771106622 0.00003
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala) rs375757497 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_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu) rs371485747 0.00003
NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn) rs149687560 0.00003
NM_022725.4(FANCF):c.149G>C (p.Arg50Pro) rs371420932 0.00003
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn) rs149470704 0.00003
NM_032444.4(SLX4):c.3042G>A (p.Arg1014=) rs752948857 0.00003
NM_032444.4(SLX4):c.4185C>T (p.Val1395=) rs993089915 0.00003
NM_032444.4(SLX4):c.4406C>T (p.Ser1469Phe) rs759045352 0.00003
NM_032444.4(SLX4):c.4485G>C (p.Ala1495=) rs140872903 0.00003
NM_032444.4(SLX4):c.4686G>T (p.Pro1562=) rs752013105 0.00003
NM_032444.4(SLX4):c.553G>A (p.Asp185Asn) rs201769293 0.00003
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.3115G>A (p.Gly1039Ser) rs773260958 0.00002
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171 0.00002
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly) rs760330357 0.00002
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val) rs201886956 0.00002
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr) rs767206558 0.00002
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu) rs769243354 0.00002
NM_000135.4(FANCA):c.6C>G (p.Ser2=) rs982258436 0.00002
NM_000135.4(FANCA):c.946C>T (p.Leu316=) rs775506986 0.00002
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_000136.3(FANCC):c.473C>T (p.Ala158Val) rs776429990 0.00002
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890 0.00002
NM_000136.3(FANCC):c.975T>G (p.Ala325=) rs747463354 0.00002
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) rs138192474 0.00002
NM_001018113.3(FANCB):c.1327-11_1327-10insC rs1312589379 0.00002
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) rs764817410 0.00002
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600 0.00002
NM_001018113.3(FANCB):c.679T>C (p.Tyr227His) rs1398803909 0.00002
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) rs766286504 0.00002
NM_001018115.3(FANCD2):c.3226A>G (p.Ser1076Gly) rs1371349116 0.00002
NM_001018115.3(FANCD2):c.903T>A (p.Leu301=) rs752360517 0.00002
NM_004629.2(FANCG):c.1581C>T (p.Ser527=) rs768671803 0.00002
NM_018062.4(FANCL):c.500T>C (p.Val167Ala) rs1338440311 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_022725.4(FANCF):c.279C>T (p.Leu93=) rs199578614 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.2169T>C (p.Asn723=) rs750908864 0.00002
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1550G>A (p.Arg517Gln) rs1050329686 0.00001
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr) rs1293899212 0.00001
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485 0.00001
NM_000135.4(FANCA):c.2602-8T>C rs772897825 0.00001
NM_000135.4(FANCA):c.2700T>G (p.Ser900=) rs755783870 0.00001
NM_000135.4(FANCA):c.3626+4C>T rs772166806 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) rs768380959 0.00001
NM_000135.4(FANCA):c.4168-11T>C rs753475025 0.00001
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu) rs908258968 0.00001
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys) rs747651383 0.00001
NM_000135.4(FANCA):c.793-12C>G rs746312984 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 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.1568T>C (p.Ile523Thr) rs1554827151 0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 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.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.1912A>G (p.Lys638Glu) rs776713934 0.00001
NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn) rs1416043928 0.00001
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) rs1020168794 0.00001
NM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys) rs1247789556 0.00001
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) rs996732250 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.1371A>T (p.Leu457=) rs1364599822 0.00001
NM_001018115.3(FANCD2):c.1546-7T>A rs548887691 0.00001
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=) rs138189144 0.00001
NM_001018115.3(FANCD2):c.2085T>C (p.Ile695=) rs760296624 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.2577A>G (p.Ser859=) rs772038476 0.00001
NM_001018115.3(FANCD2):c.2942C>T (p.Thr981Ile) rs1468736218 0.00001
NM_001018115.3(FANCD2):c.2989C>T (p.Arg997Trp) rs587778330 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.3561-4G>T rs1694400747 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 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.4196T>C (p.Ile1399Thr) rs1369071910 0.00001
NM_001018115.3(FANCD2):c.4281+69G>A rs754606069 0.00001
NM_001018115.3(FANCD2):c.4297G>A (p.Glu1433Lys) rs755911397 0.00001
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) rs72762644 0.00001
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala) rs1012254525 0.00001
NM_001113378.2(FANCI):c.1420C>A (p.Leu474Ile) rs746777753 0.00001
NM_001113378.2(FANCI):c.2292-6T>C rs772352819 0.00001
NM_001113378.2(FANCI):c.2774C>T (p.Pro925Leu) rs773438545 0.00001
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513 0.00001
NM_001113378.2(FANCI):c.3562G>A (p.Gly1188Arg) rs772739034 0.00001
NM_001113378.2(FANCI):c.3671A>C (p.Asn1224Thr) rs780218001 0.00001
NM_001113378.2(FANCI):c.625G>C (p.Glu209Gln) rs752707646 0.00001
NM_001113378.2(FANCI):c.976-6C>T rs2053316788 0.00001
NM_004629.2(FANCG):c.1578C>T (p.Ala526=) rs1060504371 0.00001
NM_004629.2(FANCG):c.1662G>A (p.Leu554=) rs750982155 0.00001
NM_004629.2(FANCG):c.463C>T (p.Arg155Cys) rs200926249 0.00001
NM_004629.2(FANCG):c.549T>C (p.Thr183=) rs1163330730 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_018062.4(FANCL):c.344T>C (p.Ile115Thr) rs1060501895 0.00001
NM_018062.4(FANCL):c.36C>T (p.Cys12=) rs756487177 0.00001
NM_018062.4(FANCL):c.611T>C (p.Met204Thr) rs368900762 0.00001
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe) rs765926796 0.00001
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly) rs778068203 0.00001
NM_018062.4(FANCL):c.750G>A (p.Glu250=) rs1337676826 0.00001
NM_021922.3(FANCE):c.1017C>T (p.Leu339=) rs1277513595 0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln) rs749697038 0.00001
NM_021922.3(FANCE):c.436G>T (p.Val146Leu) rs755204532 0.00001
NM_021922.3(FANCE):c.693G>A (p.Lys231=) rs202207657 0.00001
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp) rs779336261 0.00001
NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe) rs754545069 0.00001
NM_022725.4(FANCF):c.201G>A (p.Arg67=) rs765970178 0.00001
NM_022725.4(FANCF):c.24G>C (p.Leu8=) rs1035401874 0.00001
NM_022725.4(FANCF):c.466A>G (p.Asn156Asp) rs370979205 0.00001
NM_022725.4(FANCF):c.812C>T (p.Ser271Phe) rs1417824608 0.00001
NM_022725.4(FANCF):c.993C>G (p.Thr331=) rs751274756 0.00001
NM_032444.4(SLX4):c.1189A>G (p.Lys397Glu) rs202204661 0.00001
NM_032444.4(SLX4):c.1490T>C (p.Leu497Ser) rs200337039 0.00001
NM_032444.4(SLX4):c.1627G>A (p.Glu543Lys) rs377148341 0.00001
NM_032444.4(SLX4):c.1739G>A (p.Ser580Asn) rs755653940 0.00001
NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu) rs373081094 0.00001
NM_032444.4(SLX4):c.2166C>T (p.Asn722=) rs767528538 0.00001
NM_032444.4(SLX4):c.2236G>A (p.Glu746Lys) rs758785487 0.00001
NM_032444.4(SLX4):c.2412A>G (p.Glu804=) rs753755892 0.00001
NM_032444.4(SLX4):c.2517C>T (p.His839=) rs766929821 0.00001
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=) rs1391997347 0.00001
NM_032444.4(SLX4):c.3761C>T (p.Ser1254Leu) rs750580998 0.00001
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe) rs763539738 0.00001
NM_032444.4(SLX4):c.4947A>G (p.Thr1649=) rs540634044 0.00001
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1227C>T (p.Asp409=) rs139944072
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.151C>G (p.Leu51Val) rs1287320584
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup) rs2039604604
NM_000135.4(FANCA):c.1911G>A (p.Leu637=) rs914305609
NM_000135.4(FANCA):c.2023G>A (p.Ala675Thr) rs752701423
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro) rs767631694
NM_000135.4(FANCA):c.2223-8C>T rs1598110961
NM_000135.4(FANCA):c.2248G>C (p.Val750Leu) rs747723074
NM_000135.4(FANCA):c.2316+6G>T rs1399631313
NM_000135.4(FANCA):c.2365G>A (p.Val789Met) rs771698195
NM_000135.4(FANCA):c.2502G>T (p.Leu834=) rs770993950
NM_000135.4(FANCA):c.2529C>T (p.Tyr843=) rs1247378731
NM_000135.4(FANCA):c.2669G>T (p.Ser890Ile) rs1055448646
NM_000135.4(FANCA):c.2755G>A (p.Val919Met) rs150330232
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu) rs756241886
NM_000135.4(FANCA):c.3018G>T (p.Leu1006Phe) rs1439833580
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys) rs762111755
NM_000135.4(FANCA):c.3091del (p.Gln1031fs) rs2143139861
NM_000135.4(FANCA):c.3156C>T (p.Phe1052=) rs373305027
NM_000135.4(FANCA):c.337_338del (p.Ala114fs) rs2143680554
NM_000135.4(FANCA):c.3404T>G (p.Phe1135Cys) rs2143108985
NM_000135.4(FANCA):c.3408+6A>T rs1269046351
NM_000135.4(FANCA):c.3513+4G>A rs878946193
NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu) rs372706571
NM_000135.4(FANCA):c.3610C>G (p.Arg1204Gly) rs759303096
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=) rs1567598479
NM_000135.4(FANCA):c.376A>T (p.Thr126Ser) rs953219736
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3907C>T (p.Leu1303=) rs2151714673
NM_000135.4(FANCA):c.4260+6G>A rs374793201
NM_000135.4(FANCA):c.4261-13T>A rs2151710077
NM_000135.4(FANCA):c.4335C>T (p.Asp1445=) rs374830555
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln) rs1043241541
NM_000135.4(FANCA):c.523-19GTTTT[2] rs755643283
NM_000135.4(FANCA):c.5C>G (p.Ser2Cys) rs928016876
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala) rs200988394
NM_000136.3(FANCC):c.1088A>G (p.His363Arg) rs2072244970
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg) rs371897078
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr) rs1588353368
NM_000136.3(FANCC):c.1457T>C (p.Leu486Pro) rs753031127
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.610C>T (p.Leu204Phe) rs1830064754
NM_000136.3(FANCC):c.632C>T (p.Pro211Leu) rs140781259
NM_000136.3(FANCC):c.665C>A (p.Ala222Asp) rs1830058618
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.816C>G (p.Ile272Met) rs55719336
NM_001018113.3(FANCB):c.-191-13C>T rs2147458807
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1105-4T>C rs2147425181
NM_001018113.3(FANCB):c.124A>G (p.Ile42Val) rs2147447859
NM_001018113.3(FANCB):c.1327-12dup rs202067682
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1383T>C (p.Asp461=) rs2147405012
NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly) rs2147386876
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.508A>G (p.Ile170Val) rs138251388
NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn) rs1456143136
NM_001018115.3(FANCD2):c.1033CTC[1] (p.Leu346del) rs1158786668
NM_001018115.3(FANCD2):c.1098+4A>G rs664233
NM_001018115.3(FANCD2):c.1181dup (p.Thr395fs) rs2125000228
NM_001018115.3(FANCD2):c.1185A>G (p.Thr395=) rs2125000243
NM_001018115.3(FANCD2):c.1248G>T (p.Leu416=) rs1365912085
NM_001018115.3(FANCD2):c.1383A>G (p.Ala461=) rs1324641371
NM_001018115.3(FANCD2):c.1419G>T (p.Val473=) rs140350157
NM_001018115.3(FANCD2):c.1487T>G (p.Leu496Arg) rs2125006396
NM_001018115.3(FANCD2):c.1555G>A (p.Asp519Asn) rs780491203
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe) rs143701205
NM_001018115.3(FANCD2):c.183G>T (p.Thr61=) rs771445756
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg) rs750353000
NM_001018115.3(FANCD2):c.2019A>T (p.Glu673Asp) rs2125034174
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2055A>C (p.Gly685=) rs2125035070
NM_001018115.3(FANCD2):c.2103G>T (p.Pro701=) rs139033444
NM_001018115.3(FANCD2):c.2178T>C (p.Ser726=) rs761465333
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2803A>G (p.Ile935Val) rs61751578
NM_001018115.3(FANCD2):c.3151A>G (p.Lys1051Glu) rs2125060028
NM_001018115.3(FANCD2):c.3355C>A (p.Gln1119Lys) rs1031970731
NM_001018115.3(FANCD2):c.3533C>G (p.Ser1178Cys) rs1472283913
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001018115.3(FANCD2):c.3889-5_3889-3del rs2125090590
NM_001018115.3(FANCD2):c.3962G>C (p.Arg1321Pro) rs147205530
NM_001018115.3(FANCD2):c.4067A>G (p.His1356Arg) rs1348547984
NM_001018115.3(FANCD2):c.70A>G (p.Arg24Gly) rs999832070
NM_001018115.3(FANCD2):c.905G>A (p.Arg302Gln) rs755797932
NM_001018115.3(FANCD2):c.945G>A (p.Arg315=) rs2124992319
NM_001113378.2(FANCI):c.1134T>C (p.Val378=) rs1201574474
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1444A>G (p.Thr482Ala) rs1249221854
NM_001113378.2(FANCI):c.1525G>A (p.Val509Ile) rs1011876937
NM_001113378.2(FANCI):c.1617G>A (p.Gly539=) rs757928977
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_001113378.2(FANCI):c.2170-7C>G rs759281018
NM_001113378.2(FANCI):c.2430G>A (p.Val810=) rs2151741501
NM_001113378.2(FANCI):c.3059-11C>T rs2054667046
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) rs2054689057
NM_001113378.2(FANCI):c.3291A>G (p.Glu1097=) rs2054690236
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3591+4A>T rs774180579
NM_001113378.2(FANCI):c.679_682del (p.Lys227fs) rs2151304648
NM_001113378.2(FANCI):c.898G>T (p.Asp300Tyr) rs1567151740
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu) rs761982725
NM_004629.2(FANCG):c.1011C>T (p.Pro337=) rs1488514693
NM_004629.2(FANCG):c.1144-9C>A rs778217810
NM_004629.2(FANCG):c.1643G>A (p.Arg548Gln) rs1587138702
NM_004629.2(FANCG):c.1663C>T (p.Leu555Phe) rs2131051917
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) rs1829129603
NM_004629.2(FANCG):c.308-25_308-12del rs1563987234
NM_004629.2(FANCG):c.333G>C (p.Gly111=) rs1060504370
NM_004629.2(FANCG):c.337A>G (p.Arg113Gly) rs2131058590
NM_004629.2(FANCG):c.616G>A (p.Val206Ile) rs768648609
NM_004629.2(FANCG):c.706G>A (p.Ala236Thr) rs2131056564
NM_004629.2(FANCG):c.844C>T (p.Pro282Ser) rs770009374
NM_005476.7(GNE):c.711G>A (p.Leu237=) rs724159957
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.1A>G (p.Met1Val) rs772037896
NM_018062.4(FANCL):c.478G>A (p.Ala160Thr) rs2105101201
NM_018062.4(FANCL):c.624T>C (p.Asp208=) rs2104817515
NM_018062.4(FANCL):c.637G>C (p.Val213Leu) rs2104817334
NM_018062.4(FANCL):c.776-10del rs374236117
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_021922.3(FANCE):c.1276A>G (p.Met426Val) rs764652720
NM_021922.3(FANCE):c.12G>A (p.Pro4=) rs2150885362
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro) rs1309426375
NM_021922.3(FANCE):c.313G>A (p.Val105Ile) rs373159305
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln) rs2150885592
NM_021922.3(FANCE):c.901-5C>A rs747168225
NM_022725.4(FANCF):c.1001C>T (p.Ala334Val) rs772941983
NM_022725.4(FANCF):c.1020A>G (p.Glu340=) rs1858615686
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.258C>T (p.Leu86=) rs146352365
NM_022725.4(FANCF):c.281C>T (p.Ser94Phe) rs1454810693
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser) rs565372884
NM_022725.4(FANCF):c.471C>A (p.Leu157=) rs201136733
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.688C>T (p.Pro230Ser) rs773724648
NM_022725.4(FANCF):c.696G>C (p.Glu232Asp) rs1590541131
NM_022725.4(FANCF):c.70A>T (p.Ser24Cys) rs1858638724
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.1123A>C (p.Thr375Pro) rs2151133974
NM_032444.4(SLX4):c.1125del (p.Ala376fs) rs2151133964
NM_032444.4(SLX4):c.1164-9G>A rs2040686112
NM_032444.4(SLX4):c.1329G>A (p.Leu443=) rs2151131782
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp) rs372264472
NM_032444.4(SLX4):c.1720C>G (p.Pro574Ala) rs2040659325
NM_032444.4(SLX4):c.1887C>T (p.Pro629=) rs762862604
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.1965T>C (p.Phe655=) rs2151129331
NM_032444.4(SLX4):c.2168A>G (p.Asn723Ser) rs2151127319
NM_032444.4(SLX4):c.2223T>G (p.Gly741=) rs777278153
NM_032444.4(SLX4):c.2371A>G (p.Ile791Val) rs1422973391
NM_032444.4(SLX4):c.2721G>A (p.Glu907=) rs141450907
NM_032444.4(SLX4):c.2960T>C (p.Phe987Ser) rs2040576468
NM_032444.4(SLX4):c.3180G>A (p.Arg1060=) rs747169328
NM_032444.4(SLX4):c.3654T>C (p.Asp1218=) rs2151123167
NM_032444.4(SLX4):c.396A>G (p.Glu132=) rs2151139288
NM_032444.4(SLX4):c.4003G>A (p.Gly1335Ser) rs367562934
NM_032444.4(SLX4):c.4020C>T (p.His1340=) rs768829231
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.420G>T (p.Glu140Asp) rs753015235
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.42G>C (p.Leu14Phe) rs1332832206
NM_032444.4(SLX4):c.4384G>A (p.Ala1462Thr) rs138484365
NM_032444.4(SLX4):c.4485G>A (p.Ala1495=) rs140872903
NM_032444.4(SLX4):c.4596C>T (p.Ser1532=) rs527733303
NM_032444.4(SLX4):c.4845G>A (p.Gln1615=) rs988625732
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5166T>C (p.Cys1722=) rs1198701950
NM_032444.4(SLX4):c.5253C>T (p.Asp1751=) rs748978984
NM_032444.4(SLX4):c.660C>A (p.Asp220Glu) rs767206967
NM_032444.4(SLX4):c.761T>A (p.Val254Glu) rs776582706

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