ClinVar Miner

List of variants studied for Fanconi anemia by Baylor Genetics

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 847
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HGVS dbSNP gnomAD frequency
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_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
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_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
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_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg) rs141141752 0.00052
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His) rs140452766 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg) rs139865448 0.00045
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365 0.00034
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln) rs758238449 0.00026
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) rs112387610 0.00019
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val) rs372921011 0.00019
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe) rs952309844 0.00017
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 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_001113378.2(FANCI):c.1264G>A (p.Gly422Arg) rs146040966 0.00016
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val) rs200178217 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_018062.4(FANCL):c.-3G>C rs766104531 0.00009
NM_022725.4(FANCF):c.911G>C (p.Trp304Ser) rs372140217 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
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_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr) rs370663234 0.00007
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys) rs143701205 0.00006
NM_004629.2(FANCG):c.766C>T (p.His256Tyr) rs753955326 0.00006
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.257G>A (p.Arg86His) rs187435008 0.00006
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 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_004629.2(FANCG):c.769C>T (p.Arg257Cys) rs759314410 0.00005
NM_032444.4(SLX4):c.1379G>A (p.Arg460His) rs369994733 0.00005
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys) rs140529288 0.00005
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys) rs762619200 0.00005
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 0.00004
NM_005431.2(XRCC2):c.271C>T (p.Arg91Trp) rs730882043 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg) rs201528578 0.00004
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly) rs540547787 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn) rs778309339 0.00004
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg) rs1481598103 0.00003
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982 0.00003
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 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_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001113378.2(FANCI):c.1891-2A>G rs776329920 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_004629.2(FANCG):c.1156C>G (p.Pro386Ala) rs375757497 0.00003
NM_004629.2(FANCG):c.730G>A (p.Val244Met) rs746248064 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn) rs149470704 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 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.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu) rs760823688 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.605T>C (p.Ile202Thr) rs751126921 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 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.118C>T (p.Gln40Ter) rs776122485 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter) rs779834525 0.00002
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_018062.4(FANCL):c.500T>C (p.Val167Ala) rs1338440311 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu) rs369805557 0.00002
NM_032444.4(SLX4):c.2157G>T (p.Gln719His) rs768316000 0.00002
NM_032444.4(SLX4):c.796G>A (p.Ala266Thr) rs543071212 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter) rs755018069 0.00001
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter) rs769718381 0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys) rs1012809189 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.190-1G>C rs765277254 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 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.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807 0.00001
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg) rs1437529209 0.00001
NM_000135.4(FANCA):c.3513+1G>A rs1188082371 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu) rs777313447 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 0.00001
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His) rs1041491550 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000136.3(FANCC):c.1329+1G>T rs1554829441 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.583G>C (p.Asp195His) rs774140528 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) rs864622191 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) rs1181436417 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.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_001018115.3(FANCD2):c.3888+2T>G rs1419879344 0.00001
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp) rs61753270 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr) rs770499988 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) rs757964620 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.175+1G>A rs927868500 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter) rs1209807088 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile) rs61757386 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp) rs1234856735 0.00001
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met) rs746106147 0.00001
NM_005431.2(XRCC2):c.97G>C (p.Ala33Pro) rs774296079 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile) rs377429618 0.00001
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg) rs770063294 0.00001
NM_018062.4(FANCL):c.992A>C (p.Gln331Pro) rs746967598 0.00001
NM_021922.3(FANCE):c.104C>T (p.Ala35Val) rs570498238 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1238-1G>C rs1767507722 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 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.297del (p.Met99fs) rs754850404 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln) rs777849670 0.00001
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg) rs757993614 0.00001
NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp) rs1052888437 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_032444.4(SLX4):c.2208G>C (p.Gln736His) rs1293011888 0.00001
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser) rs779426291 0.00001
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe) rs556682517 0.00001
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe) rs763539738 0.00001
NM_032444.4(SLX4):c.5384G>A (p.Arg1795His) rs926700658 0.00001
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met) rs587781680 0.00001
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp) rs538884532 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr) rs863224590
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000135.4(FANCA):c.1006+1G>A
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1084-1G>T
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
NM_000135.4(FANCA):c.1226-2A>C
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) 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.1326del (p.Ser443fs)
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1471-1G>T rs2039777078
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys) rs753719658
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1630del (p.His544fs)
NM_000135.4(FANCA):c.16dup (p.Val6fs)
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
NM_000135.4(FANCA):c.1826+2T>C
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) rs2039386741
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val) rs986889143
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) rs751572448
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr) rs2039267533
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
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.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
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.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+1G>A rs1232171121
NM_000135.4(FANCA):c.283+2T>C
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) rs147176389
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
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.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter) rs775799529
NM_000135.4(FANCA):c.32del (p.Ser11fs)
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3409-25_3418del
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3409-3_3417del
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3504_3513+55del
NM_000135.4(FANCA):c.3514-1G>C
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3626+5G>C rs370801038
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
NM_000135.4(FANCA):c.3765+1G>A
NM_000135.4(FANCA):c.3765+2C>T rs776827467
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) 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.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828+1G>T rs1432988639
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs) rs748453841
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) rs773113065
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4100_4167+2del
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
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.4254_4255delinsC (p.Ala1419fs)
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa) rs2062027006
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
NM_000135.4(FANCA):c.50del (p.Gly17fs) rs748624754
NM_000135.4(FANCA):c.522+2T>G
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
NM_000135.4(FANCA):c.709+1G>A rs753211631
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.792+1G>C
NM_000135.4(FANCA):c.793-2A>T
NM_000135.4(FANCA):c.80-2A>G
NM_000135.4(FANCA):c.80-99_105del
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000135.4(FANCA):c.83del (p.Gly28fs)
NM_000135.4(FANCA):c.891_893+1del rs2040352874
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg) rs1467900630
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.94del (p.Arg32fs)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1154+1del
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
NM_000136.3(FANCC):c.1329+115C>T rs2071912393
NM_000136.3(FANCC):c.1329+1del
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs) rs2134456127
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
NM_000136.3(FANCC):c.163del (p.Met55fs)
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) rs1830584796
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>C
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.357_358del (p.His120fs) rs1588220764
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp) rs1419677503
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.457-2A>G
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.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.547del (p.Leu183fs)
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe) rs1269365165
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.705del (p.Met236fs) rs2135168243
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter) rs1588134571
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.883dup (p.Asp295fs) rs1826007748
NM_000136.3(FANCC):c.897-1G>A rs1588101086
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107
NM_000136.3(FANCC):c.907del (p.Leu303fs)
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) rs1825775052
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) rs2092364017
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
NM_001018115.3(FANCD2):c.1135-1G>C
NM_001018115.3(FANCD2):c.1279-2A>C
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly) rs2087075324
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
NM_001018115.3(FANCD2):c.1545+1G>T
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
NM_001018115.3(FANCD2):c.206-1G>T rs2124974541
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
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.2661del (p.Glu888fs) rs762544228
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu) rs532250395
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr) rs2125060186
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg) rs759516610
NM_001018115.3(FANCD2):c.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs) rs2125072480
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.3466+1G>A
NM_001018115.3(FANCD2):c.3560+1G>A
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val) rs2086517367
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu) rs1486214768
NM_001018115.3(FANCD2):c.378-1G>C
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001018115.3(FANCD2):c.3889-2A>G
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
NM_001018115.3(FANCD2):c.4186-2A>G
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) rs2086805219
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
NM_001018115.3(FANCD2):c.65-2A>G
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) rs2053319905
NM_001113378.2(FANCI):c.1112+2T>C
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
NM_001113378.2(FANCI):c.1293+1G>T
NM_001113378.2(FANCI):c.1382-5T>C rs2151549574
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.1584-1G>A
NM_001113378.2(FANCI):c.1584-1G>C
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
NM_001113378.2(FANCI):c.1699-2A>C
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
NM_001113378.2(FANCI):c.1890+1G>T
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile)
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
NM_001113378.2(FANCI):c.2291+2T>A rs1400441798
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2456+1G>A
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2637-1G>T
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2804-2A>G
NM_001113378.2(FANCI):c.2804-2A>T
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2889+1G>A
NM_001113378.2(FANCI):c.2890-2A>C
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
NM_001113378.2(FANCI):c.3007-1G>C
NM_001113378.2(FANCI):c.3007-1G>T
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) rs548947826
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) rs2152017390
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3924+2T>C
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
NM_001113378.2(FANCI):c.446del
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
NM_001113378.2(FANCI):c.546-5C>T rs2052826764
NM_001113378.2(FANCI):c.669+1G>T
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
NM_001113378.2(FANCI):c.775G>A (p.Val259Met) rs2053062704
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly)
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276
NM_001113525.2(ZNF276):c.*732G>A rs775180524
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter) rs1326382443
NM_004629.2(FANCG):c.1144-1G>A
NM_004629.2(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) rs2131053943
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
NM_004629.2(FANCG):c.1434-2A>C rs1829062071
NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
NM_004629.2(FANCG):c.1480+1G>A
NM_004629.2(FANCG):c.1483del rs760738460
NM_004629.2(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.2(FANCG):c.1593del (p.Ala533fs) rs761519737
NM_004629.2(FANCG):c.1636+1G>C
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter) rs2131051951
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.176-6_190del
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.272del (p.Asp91fs)
NM_004629.2(FANCG):c.306_307del (p.Arg102fs)
NM_004629.2(FANCG):c.307+1G>A
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.308-1G>A
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_004629.2(FANCG):c.347_348del (p.Gln116fs)
NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)
NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)
NM_004629.2(FANCG):c.510+1G>A
NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) rs755361015
NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004629.2(FANCG):c.682del (p.Ala228fs)
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
NM_004629.2(FANCG):c.713dup (p.Leu239fs) rs2131056549
NM_004629.2(FANCG):c.721_733del (p.Pro241fs)
NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
NM_004629.2(FANCG):c.797dup (p.Leu267fs)
NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)
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.930dup (p.Asn311fs)
NM_004629.2(FANCG):c.941del (p.Cys314fs)
NM_004629.2(FANCG):c.99_103del (p.Gly34fs)
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly) rs147105770
NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu) rs2031938186
NM_005236.3(ERCC4):c.207+5G>C rs766355378
NM_005236.3(ERCC4):c.2249G>A (p.Arg750His) rs748870665
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
NM_018062.4(FANCL):c.1092+1G>C
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
NM_018062.4(FANCL):c.217-2A>G
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.273+1G>A rs144729980
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.4(FANCL):c.524C>T (p.Ala175Val) rs199966372
NM_018062.4(FANCL):c.590del (p.Leu197fs)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
NM_018062.4(FANCL):c.691+2_691+5del
NM_018062.4(FANCL):c.70del (p.Val24fs)
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
NM_018062.4(FANCL):c.738dup (p.Met247fs)
NM_018062.4(FANCL):c.759_762del (p.Phe253fs) rs1553435610
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
NM_018062.4(FANCL):c.903+1del
NM_018062.4(FANCL):c.904-4G>T rs757211531
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
NM_018124.4(RFWD3):c.1577G>A (p.Ser526Asn)
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1113+2T>A
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.1238-2A>C
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
NM_021922.3(FANCE):c.1317-1G>A
NM_021922.3(FANCE):c.1383+2T>C
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile) rs1767643426
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.248+1G>T
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln) rs45600543
NM_021922.3(FANCE):c.334del (p.Ser112fs) rs1479445348
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.505del (p.Arg169fs)
NM_021922.3(FANCE):c.524del (p.Gly175fs) rs773363446
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.635del (p.Glu212fs)
NM_021922.3(FANCE):c.836del (p.Glu279fs)
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
NM_021922.3(FANCE):c.929del (p.Pro310fs) rs587778337
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.969+1G>A
NM_022725.4(FANCF):c.133_136del (p.His45fs)
NM_022725.4(FANCF):c.167del (p.Thr56fs)
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs) rs2133798885
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser) rs372625322
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
NM_022725.4(FANCF):c.434del (p.Met145fs)
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer) rs778546226
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.496C>T (p.Gln166Ter) rs766279442
NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)
NM_022725.4(FANCF):c.530_537del (p.Val177fs)
NM_022725.4(FANCF):c.581A>G (p.Glu194Gly) rs1274843959
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) rs1479457172
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
NM_022725.4(FANCF):c.736del (p.Glu246fs)
NM_022725.4(FANCF):c.792dup (p.Ser265Ter)
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)
NM_022725.4(FANCF):c.943dup (p.Cys315fs) rs1590540654
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu) rs781049663
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser) rs1060502796
NM_032444.4(SLX4):c.1331A>C (p.Glu444Ala) rs2040681362
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp) rs372264472
NM_032444.4(SLX4):c.1699C>T (p.Pro567Ser) rs765739226
NM_032444.4(SLX4):c.3209C>T (p.Ser1070Phe) rs2040570774
NM_032444.4(SLX4):c.352C>G (p.Pro118Ala) rs1264184614
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter) rs1237224833
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs) rs2040460653
NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile) rs2040449660
NM_032444.4(SLX4):c.5470C>T (p.Gln1824Ter) rs1037474114
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly) rs79842542
NM_033084.6(FANCD2):c.2609_2613del
NM_033084.6(FANCD2):c.3107_3108del rs2125059924

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