ClinVar Miner

List of variants in gene FANCI reported as uncertain significance for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 755
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233 0.00124
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001113378.1(FANCI):c.-90T>C rs559714713 0.00056
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917 0.00051
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr) rs139181400 0.00031
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) rs149223439 0.00028
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656 0.00024
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met) rs191202700 0.00022
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714 0.00020
NM_001113378.2(FANCI):c.1699-3C>G rs372441627 0.00020
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_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
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.-10A>G rs372076895 0.00014
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_001113378.2(FANCI):c.2646A>G (p.Leu882=) rs199627578 0.00012
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe) rs199502679 0.00012
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616 0.00011
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_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_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
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_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.1972A>T (p.Ile658Phe) rs745308624 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.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.3255T>G (p.Cys1085Trp) rs755403672 0.00006
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn) rs779604966 0.00006
NM_001113378.2(FANCI):c.1113-10G>C rs756650711 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_001113378.2(FANCI):c.1891-3C>T rs371578898 0.00005
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939 0.00005
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412 0.00005
NM_001113378.2(FANCI):c.839A>G (p.Lys280Arg) rs772035961 0.00005
NM_001113378.2(FANCI):c.-56T>C rs374177639 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.2146A>G (p.Ser716Gly) rs376641420 0.00004
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) rs752114490 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.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.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.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.550G>C (p.Val184Leu) rs571745030 0.00004
NM_001113378.2(FANCI):c.772A>G (p.Thr258Ala) rs773039171 0.00004
NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile) rs199713555 0.00004
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met) rs1060501897 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.196C>T (p.Arg66Cys) rs143105092 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.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.284T>A (p.Leu95Gln) rs201553891 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.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.488C>A (p.Thr163Asn) rs574154974 0.00003
NM_001113378.2(FANCI):c.601A>G (p.Met201Val) rs774564150 0.00003
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=) rs201871288 0.00002
NM_001113378.2(FANCI):c.1513C>T (p.Pro505Ser) rs774909787 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.1850C>G (p.Ser617Cys) rs749295501 0.00002
NM_001113378.2(FANCI):c.1890+10A>G rs201954421 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.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.3816+6C>T rs989969696 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.875A>G (p.His292Arg) rs764641724 0.00002
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) rs769485443 0.00002
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.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.1305G>A (p.Met435Ile) rs1390853875 0.00001
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=) rs772846275 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.1510C>A (p.Gln504Lys) rs554471987 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.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.1976C>T (p.Ser659Phe) rs776139524 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.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.243G>T (p.Leu81Phe) rs765418977 0.00001
NM_001113378.2(FANCI):c.2481A>T (p.Glu827Asp) rs879531765 0.00001
NM_001113378.2(FANCI):c.2544G>C (p.Gln848His) rs777269384 0.00001
NM_001113378.2(FANCI):c.2572C>G (p.His858Asp) rs1361710673 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.2684C>T (p.Ser895Leu) rs762647324 0.00001
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) rs751233975 0.00001
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val) rs748546731 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.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.3044A>G (p.Lys1015Arg) rs150387641 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.3206C>G (p.Thr1069Arg) rs763822728 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.329A>G (p.Asn110Ser) rs368987143 0.00001
NM_001113378.2(FANCI):c.3327A>T (p.Gln1109His) rs1388053700 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.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.3562G>A (p.Gly1188Arg) rs772739034 0.00001
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val) rs149763090 0.00001
NM_001113378.2(FANCI):c.3619C>G (p.Pro1207Ala) rs759758760 0.00001
NM_001113378.2(FANCI):c.362T>C (p.Leu121Pro) rs373184027 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.3709G>C (p.Ala1237Pro) rs751025656 0.00001
NM_001113378.2(FANCI):c.3730C>A (p.Leu1244Ile) rs1321885310 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.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+3C>T rs766430678 0.00001
NM_001113378.2(FANCI):c.3924G>C (p.Glu1308Asp) rs760646851 0.00001
NM_001113378.2(FANCI):c.394A>G (p.Ile132Val) rs749540937 0.00001
NM_001113378.2(FANCI):c.400C>G (p.Leu134Val) rs768553208 0.00001
NM_001113378.2(FANCI):c.416C>T (p.Thr139Met) rs1161378135 0.00001
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu) rs1410323660 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.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.571G>A (p.Val191Met) rs1296106146 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.716C>T (p.Ala239Val) rs749779839 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.905A>G (p.Asn302Ser) rs575416245 0.00001
NM_001113378.2(FANCI):c.918T>G (p.Ser306Arg) rs745623288 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+3A>G rs773615217 0.00001
NM_001113378.2(FANCI):c.976-6C>T rs2053316788 0.00001
NC_000015.10:g.(?_89290203)_(89291724_?)del
NC_000015.9:g.(?_89790879)_(89825086_?)dup
NC_000015.9:g.(?_89801915)_(89828469_?)del
NC_000015.9:g.(?_89811610)_(89817555_?)del
NC_000015.9:g.(?_89828307)_(89828469_?)del
NM_001113378.2(FANCI):c.1003G>A (p.Val335Ile) rs1222471181
NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu) rs1432524532
NM_001113378.2(FANCI):c.1013T>C (p.Phe338Ser)
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del) rs770583031
NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp)
NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)
NM_001113378.2(FANCI):c.1053G>T (p.Gln351His)
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.1075T>A (p.Tyr359Asn) rs1429851841
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.1118A>G (p.His373Arg)
NM_001113378.2(FANCI):c.1123T>C (p.Trp375Arg)
NM_001113378.2(FANCI):c.1132G>T (p.Val378Phe) rs1216132878
NM_001113378.2(FANCI):c.1141G>A (p.Gly381Ser)
NM_001113378.2(FANCI):c.1147G>A (p.Val383Ile)
NM_001113378.2(FANCI):c.1162A>G (p.Ile388Val)
NM_001113378.2(FANCI):c.1163T>C (p.Ile388Thr) rs1174812931
NM_001113378.2(FANCI):c.1186A>G (p.Lys396Glu) rs2053427139
NM_001113378.2(FANCI):c.1198G>C (p.Asp400His)
NM_001113378.2(FANCI):c.1205A>G (p.Lys402Arg)
NM_001113378.2(FANCI):c.1217C>G (p.Thr406Ser)
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.1240C>T (p.Pro414Ser)
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
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.1314A>T (p.Gln438His)
NM_001113378.2(FANCI):c.1321T>A (p.Leu441Met)
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.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.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.1382-5T>C rs2151549574
NM_001113378.2(FANCI):c.1417G>A (p.Val473Ile) rs2053602523
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.1465T>C (p.Ser489Pro) rs2053603506
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.1489C>A (p.Gln497Lys) rs1049036307
NM_001113378.2(FANCI):c.1491A>C (p.Gln497His) rs145349375
NM_001113378.2(FANCI):c.1494G>T (p.Arg498Ser) rs767830108
NM_001113378.2(FANCI):c.1512+5G>C rs2053605169
NM_001113378.2(FANCI):c.1512G>A (p.Gln504=) rs377762481
NM_001113378.2(FANCI):c.1514C>A (p.Pro505His) rs773105092
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.1564C>A (p.Arg522=) rs371568506
NM_001113378.2(FANCI):c.158-5A>G
NM_001113378.2(FANCI):c.1583+142C>T rs2053631453
NM_001113378.2(FANCI):c.1583+3A>G rs2151559047
NM_001113378.2(FANCI):c.1583A>C (p.Asn528Thr) rs2151559017
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.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.1656C>A (p.Ser552Arg)
NM_001113378.2(FANCI):c.1656C>G (p.Ser552Arg) rs1060501901
NM_001113378.2(FANCI):c.1664C>A (p.Ser555Tyr)
NM_001113378.2(FANCI):c.1669C>A (p.Gln557Lys)
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.1698+4A>G rs1233338671
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.1718G>A (p.Ser573Asn) rs2053765806
NM_001113378.2(FANCI):c.1754T>G (p.Leu585Arg)
NM_001113378.2(FANCI):c.1761C>G (p.Ile587Met)
NM_001113378.2(FANCI):c.176A>T (p.Glu59Val)
NM_001113378.2(FANCI):c.1795G>A (p.Ala599Thr)
NM_001113378.2(FANCI):c.1795G>T (p.Ala599Ser)
NM_001113378.2(FANCI):c.1822-3T>C rs978852872
NM_001113378.2(FANCI):c.1828T>A (p.Tyr610Asn)
NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu) rs780853984
NM_001113378.2(FANCI):c.1837C>T (p.Leu613Phe) rs2151689487
NM_001113378.2(FANCI):c.1841G>A (p.Arg614Gln)
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro) rs780031757
NM_001113378.2(FANCI):c.1854G>T (p.Gln618His)
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.1885T>C (p.Ser629Pro) rs753059359
NM_001113378.2(FANCI):c.1888C>G (p.Gln630Glu)
NM_001113378.2(FANCI):c.1900T>C (p.Phe634Leu)
NM_001113378.2(FANCI):c.1906G>C (p.Glu636Gln) rs751777082
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.1939T>A (p.Leu647Ile)
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val) rs746651145
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.1972A>C (p.Ile658Leu) rs745308624
NM_001113378.2(FANCI):c.1987C>T (p.Pro663Ser)
NM_001113378.2(FANCI):c.1992+3G>C
NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu) rs748834576
NM_001113378.2(FANCI):c.2018A>G (p.His673Arg) rs2151724076
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
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.2054T>C (p.Leu685Ser) rs2054115728
NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)
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.2078A>G (p.Glu693Gly)
NM_001113378.2(FANCI):c.2083G>A (p.Glu695Lys)
NM_001113378.2(FANCI):c.2084A>C (p.Glu695Ala)
NM_001113378.2(FANCI):c.208A>G (p.Thr70Ala)
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.2111A>T (p.Asp704Val)
NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del)
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=) rs2054118261
NM_001113378.2(FANCI):c.2170-7C>G rs759281018
NM_001113378.2(FANCI):c.2188T>C (p.Ser730Pro) rs1596304843
NM_001113378.2(FANCI):c.2197A>G (p.Thr733Ala) rs2054122961
NM_001113378.2(FANCI):c.2198C>G (p.Thr733Ser)
NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu) rs2052680747
NM_001113378.2(FANCI):c.2222T>C (p.Ile741Thr)
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.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.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+5G>A rs1315760080
NM_001113378.2(FANCI):c.2292-3C>T
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>C (p.Glu769Asp)
NM_001113378.2(FANCI):c.2318G>A (p.Ser773Asn) rs1192891263
NM_001113378.2(FANCI):c.2327T>G (p.Met776Arg)
NM_001113378.2(FANCI):c.2330G>A (p.Cys777Tyr)
NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro)
NM_001113378.2(FANCI):c.2348A>G (p.Asp783Gly) rs1363536852
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.2394C>A (p.Asn798Lys)
NM_001113378.2(FANCI):c.2398A>G (p.Thr800Ala) rs1163712614
NM_001113378.2(FANCI):c.2428G>T (p.Val810Leu) rs779973664
NM_001113378.2(FANCI):c.2440C>G (p.Leu814Val) rs2151741592
NM_001113378.2(FANCI):c.2455A>G (p.Arg819Gly) rs370996106
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.2473C>T (p.His825Tyr)
NM_001113378.2(FANCI):c.247A>G (p.Lys83Glu) rs2151253685
NM_001113378.2(FANCI):c.2484C>G (p.Ser828Arg)
NM_001113378.2(FANCI):c.2497A>G (p.Arg833Gly)
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.2533G>A (p.Val845Ile) rs1596307741
NM_001113378.2(FANCI):c.2564A>G (p.Glu855Gly)
NM_001113378.2(FANCI):c.2566A>C (p.Thr856Pro) rs541976745
NM_001113378.2(FANCI):c.257C>G (p.Ala86Gly)
NM_001113378.2(FANCI):c.2588A>G (p.Asp863Gly) rs2054201315
NM_001113378.2(FANCI):c.2591G>T (p.Gly864Val)
NM_001113378.2(FANCI):c.2609T>A (p.Ile870Asn)
NM_001113378.2(FANCI):c.2611T>C (p.Phe871Leu)
NM_001113378.2(FANCI):c.2652A>C (p.Arg884Ser) rs749604758
NM_001113378.2(FANCI):c.2660C>T (p.Ser887Leu)
NM_001113378.2(FANCI):c.2665C>T (p.Pro889Ser)
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.2683T>G (p.Ser895Ala) rs1567170319
NM_001113378.2(FANCI):c.2693A>C (p.Lys898Thr) rs530089482
NM_001113378.2(FANCI):c.2697G>T (p.Glu899Asp)
NM_001113378.2(FANCI):c.2708G>T (p.Ser903Ile) rs1421890045
NM_001113378.2(FANCI):c.2711T>A (p.Ile904Asn)
NM_001113378.2(FANCI):c.2728G>C (p.Glu910Gln) rs1261021714
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.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.2797G>A (p.Ala933Thr)
NM_001113378.2(FANCI):c.2803+6C>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.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.2849G>C (p.Ser950Thr) rs760327010
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
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.2866G>A (p.Ala956Thr)
NM_001113378.2(FANCI):c.2872C>G (p.Gln958Glu)
NM_001113378.2(FANCI):c.2874G>C (p.Gln958His)
NM_001113378.2(FANCI):c.289-18T>C
NM_001113378.2(FANCI):c.2891G>A (p.Arg964Lys) rs2151859007
NM_001113378.2(FANCI):c.2909T>G (p.Leu970Arg) rs376798440
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.2953C>G (p.Leu985Val)
NM_001113378.2(FANCI):c.2960C>G (p.Thr987Arg)
NM_001113378.2(FANCI):c.2969C>T (p.Thr990Ile) rs762231803
NM_001113378.2(FANCI):c.2972G>C (p.Ser991Thr)
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>G (p.Met1Arg)
NM_001113378.2(FANCI):c.3006+4C>G
NM_001113378.2(FANCI):c.3007-3T>A
NM_001113378.2(FANCI):c.301C>T (p.Pro101Ser) rs770185523
NM_001113378.2(FANCI):c.3032C>T (p.Ser1011Leu)
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+4A>G rs2054616468
NM_001113378.2(FANCI):c.3058G>A (p.Glu1020Lys)
NM_001113378.2(FANCI):c.3059-11C>T rs2054667046
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.3113C>T (p.Ser1038Leu) rs2151913209
NM_001113378.2(FANCI):c.3125C>G (p.Pro1042Arg)
NM_001113378.2(FANCI):c.3147G>T (p.Leu1049Phe)
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.3166C>A (p.His1056Asn) rs2054670897
NM_001113378.2(FANCI):c.3168T>A (p.His1056Gln)
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.3186+6A>G rs910020158
NM_001113378.2(FANCI):c.3187-3C>G rs2054676661
NM_001113378.2(FANCI):c.3193G>A (p.Glu1065Lys)
NM_001113378.2(FANCI):c.320A>G (p.Glu107Gly) rs2052715611
NM_001113378.2(FANCI):c.3220A>T (p.Ile1074Leu) rs1450182027
NM_001113378.2(FANCI):c.3220_3222del (p.Ile1074del)
NM_001113378.2(FANCI):c.3233G>C (p.Arg1078Thr)
NM_001113378.2(FANCI):c.3242C>T (p.Ala1081Val)
NM_001113378.2(FANCI):c.3254G>T (p.Cys1085Phe) rs533779983
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3256-8_3256-4del
NM_001113378.2(FANCI):c.325_326delinsAT (p.Ala109Ile) rs2151267729
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) rs2054689057
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys) rs758575911
NM_001113378.2(FANCI):c.3283G>A (p.Val1095Ile) rs1596325131
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp) rs1555442689
NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)
NM_001113378.2(FANCI):c.3310A>C (p.Thr1104Pro) rs768735814
NM_001113378.2(FANCI):c.3311C>G (p.Thr1104Ser)
NM_001113378.2(FANCI):c.3316C>A (p.Leu1106Ile)
NM_001113378.2(FANCI):c.331G>C (p.Glu111Gln) rs2151267825
NM_001113378.2(FANCI):c.3344T>C (p.Leu1115Ser) rs2151919026
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.3358T>A (p.Ser1120Thr)
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.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.3403A>T (p.Ile1135Phe)
NM_001113378.2(FANCI):c.3411A>T (p.Gln1137His)
NM_001113378.2(FANCI):c.3428C>G (p.Thr1143Arg) rs772071601
NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)
NM_001113378.2(FANCI):c.3460C>T (p.Pro1154Ser)
NM_001113378.2(FANCI):c.3475G>T (p.Val1159Leu) rs2054708416
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.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.3520A>G (p.Thr1174Ala)
NM_001113378.2(FANCI):c.3532A>G (p.Arg1178Gly)
NM_001113378.2(FANCI):c.3537+3_3537+6del rs780264785
NM_001113378.2(FANCI):c.3560C>A (p.Ser1187Tyr)
NM_001113378.2(FANCI):c.3563G>C (p.Gly1188Ala)
NM_001113378.2(FANCI):c.3568A>G (p.Ile1190Val) rs2151940603
NM_001113378.2(FANCI):c.3578A>T (p.Asn1193Ile)
NM_001113378.2(FANCI):c.3591+4A>T rs774180579
NM_001113378.2(FANCI):c.3592-12C>T rs2054775391
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.2(FANCI):c.3611A>T (p.His1204Leu)
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) rs767466504
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+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.3653A>G (p.Asn1218Ser) rs1352752568
NM_001113378.2(FANCI):c.3667C>G (p.Leu1223Val)
NM_001113378.2(FANCI):c.3670A>G (p.Asn1224Asp)
NM_001113378.2(FANCI):c.3676A>T (p.Thr1226Ser)
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>T (p.Lys1232Asn) rs2055028402
NM_001113378.2(FANCI):c.3709G>A (p.Ala1237Thr) rs751025656
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val) rs2055029234
NM_001113378.2(FANCI):c.3725G>A (p.Arg1242Lys) rs2055130158
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.3754A>G (p.Asn1252Asp) rs1229086339
NM_001113378.2(FANCI):c.3776A>C (p.Gln1259Pro)
NM_001113378.2(FANCI):c.3790C>T (p.Leu1264Phe)
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr) rs2152017364
NM_001113378.2(FANCI):c.379T>G (p.Leu127Val)
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met) rs749287934
NM_001113378.2(FANCI):c.3816+17_3816+19del rs374324314
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.3836T>C (p.Met1279Thr)
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.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.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.3892C>A (p.Leu1298Ile) rs150076848
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly) rs551305056
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) rs138663330
NM_001113378.2(FANCI):c.3906_3907inv (p.Glu1303Lys)
NM_001113378.2(FANCI):c.3908A>G (p.Glu1303Gly) rs1596343025
NM_001113378.2(FANCI):c.3924+1G>T
NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr) rs2052049943
NM_001113378.2(FANCI):c.429T>A (p.Asn143Lys) rs2052718668
NM_001113378.2(FANCI):c.437A>G (p.Tyr146Cys)
NM_001113378.2(FANCI):c.443A>G (p.Lys148Arg) rs1282962332
NM_001113378.2(FANCI):c.445G>A (p.Gly149Ser) rs763494935
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.477G>T (p.Gln159His)
NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr) rs2151054381
NM_001113378.2(FANCI):c.501C>T (p.Gly167=) rs2151271104
NM_001113378.2(FANCI):c.503+6T>G
NM_001113378.2(FANCI):c.509A>T (p.Asp170Val) rs1328734606
NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg) rs775891592
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His) rs2151291390
NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)
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.560C>G (p.Thr187Ser)
NM_001113378.2(FANCI):c.563C>A (p.Ala188Glu) rs2052827709
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.574G>C (p.Glu192Gln)
NM_001113378.2(FANCI):c.587A>C (p.Glu196Ala)
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.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.634C>T (p.Pro212Ser) rs2151297988
NM_001113378.2(FANCI):c.649C>T (p.Leu217Phe) rs2052830473
NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)
NM_001113378.2(FANCI):c.669+17_669+18del rs751881445
NM_001113378.2(FANCI):c.688T>G (p.Leu230Val) rs2151304688
NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)
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.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.746G>A (p.Ser249Asn) rs2052858701
NM_001113378.2(FANCI):c.754G>C (p.Glu252Gln)
NM_001113378.2(FANCI):c.755+3G>A rs2151305411
NM_001113378.2(FANCI):c.756-6T>C
NM_001113378.2(FANCI):c.756-7C>A
NM_001113378.2(FANCI):c.757C>A (p.Leu253Ile)
NM_001113378.2(FANCI):c.765T>A (p.Asp255Glu)
NM_001113378.2(FANCI):c.765TGT[1] (p.Val257del) rs1322941307
NM_001113378.2(FANCI):c.775G>A (p.Val259Met) rs2053062704
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.827T>C (p.Val276Ala)
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.845A>G (p.Asp282Gly)
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.2(FANCI):c.865C>T (p.Leu289Phe)
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_001113378.2(FANCI):c.882+6A>G
NM_001113378.2(FANCI):c.883-4C>G rs2053277160
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.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>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.96_98del (p.Leu33del) rs747603151
NM_001113378.2(FANCI):c.970G>T (p.Asp324Tyr) rs2151439651
NM_001113378.2(FANCI):c.976-2_977dup
NM_001113378.2(FANCI):c.994A>C (p.Thr332Pro) rs2053317531
NM_001113378.2(FANCI):c.998C>T (p.Ser333Leu) rs761982725
NM_001113378.2(FANCI):c.9G>C (p.Gln3His)

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