ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Leiden Open Variation Database

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 617
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
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_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
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_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro) rs753316789 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 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_004629.2(FANCG):c.1077-2A>G rs769547477 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_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 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.1153C>T (p.His385Tyr) rs757760966 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) rs779745863 0.00001
NM_000135.4(FANCA):c.190-1G>C rs765277254 0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2348G>T (p.Gly783Val) rs935069258 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter) rs762804216 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.3382C>G (p.Gln1128Glu) rs1439817346 0.00001
NM_000135.4(FANCA):c.3766-2A>G rs1219402916 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.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr) rs764157478 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.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_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) rs1181436417 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) rs764507146 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.157+78G>A rs963339667 0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 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_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_024675.4(PALB2):c.395del (p.Val132fs) rs180177085 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_032444.4(SLX4):c.1163+2T>A rs773642409 0.00001
NM_032444.4(SLX4):c.1538G>A (p.Trp513Ter) rs761314760 0.00001
NC_000003.12:g.(10028722_10032831)_(10049506_10052386)del
NC_000003.12:g.(10041711_10042558)_(10043865_10046579)dup
NC_000003.12:g.(10048052_10049373)_(10049506_10052386)del
NC_000003.12:g.(10049506_10052386)_(10052498_10060293)del
NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del
NC_000009.12:g.(95240744_95247431)_(95317709_?)del
NC_000016.10:g.(23614092_23621361)_(23641357_?)del
NC_000016.10:g.(89739290_89739477)_(89783103_89784853)del
NC_000016.10:g.(89740100_89740803)_(89740867_89742799)del
NC_000016.10:g.(89740100_89740803)_(89799233_89799604)del
NC_000016.10:g.(89740867_89742799)_(89779958_89782858)del
NC_000016.10:g.(89740867_89742799)_(89816657_?)del
NC_000016.10:g.(89742939_89744958)_(89748768_89749729)del
NC_000016.10:g.(89742939_89744958)_(89767238_89769836)del
NC_000016.10:g.(89742939_89744958)_(89816657_?)del
NC_000016.10:g.(89746891_89748658)_(89752223_89758576)del
NC_000016.10:g.(89746891_89748658)_(89796019_89799165)del
NC_000016.10:g.(89748768_89749729)_(89758706_89761948)del
NC_000016.10:g.(89749903_89752137)_(89792548_89795905)del
NC_000016.10:g.(89749903_89752137)_(89816657_?)del
NC_000016.10:g.(89752223_89758576)_(89762023_89764889)del
NC_000016.10:g.(89752223_89758576)_(89767238_89769836)del
NC_000016.10:g.(89752223_89758576)_(89773385_89775741)del
NC_000016.10:g.(89752223_89758576)_(89816657_?)del
NC_000016.10:g.(89758706_89761948)_(89765067_89767140)del
NC_000016.10:g.(89758706_89761948)_(89773385_89775741)del
NC_000016.10:g.(89758706_89761948)_(89775816_89778800)del
NC_000016.10:g.(89758706_89761948)_(89779958_89782858)del
NC_000016.10:g.(89762023_89764889)_(89765067_89767140)del
NC_000016.10:g.(89762023_89764889)_(89770635_89771677)del
NC_000016.10:g.(89762023_89764889)_(89773385_89775741)del
NC_000016.10:g.(89762023_89764889)_(89775816_89778800)del
NC_000016.10:g.(89762023_89764889)_(89784965_89791402)del
NC_000016.10:g.(89765067_89767140)_(89803342_89805279)del
NC_000016.10:g.(89767238_89769836)_(89775816_89778800)del
NC_000016.10:g.(89767238_89769836)_(89783103_89784853)del
NC_000016.10:g.(89770635_89771677)_(89779958_89782858)del
NC_000016.10:g.(89770635_89771677)_(89783103_89784853)del
NC_000016.10:g.(89770635_89771677)_(89784965_89791402)del
NC_000016.10:g.(89770635_89771677)_(89792548_89795905)del
NC_000016.10:g.(89771815_89773270)_(89775816_89778800)del
NC_000016.10:g.(89771815_89773270)_(89783103_89784853)del
NC_000016.10:g.(89773385_89775741)_(89775816_89778800)del
NC_000016.10:g.(89773385_89775741)_(89779958_89782858)del
NC_000016.10:g.(89773385_89775741)_(89784965_89791402)dup
NC_000016.10:g.(89773385_89775741)_(89796019_89799165)del
NC_000016.10:g.(89773385_89775741)_(89808368_89810706)del
NC_000016.10:g.(89773385_89775741)_(89816657_?)del
NC_000016.10:g.(89775816_89778800)_(89783103_89784853)del
NC_000016.10:g.(89775816_89778800)_(89784965_89791402)del
NC_000016.10:g.(89775816_89778800)_(89796019_89799165)del
NC_000016.10:g.(89775816_89778800)_(89805393_89808293)del
NC_000016.10:g.(89775816_89778800)_(89816657_?)del
NC_000016.10:g.(89779958_89782858)_(89784965_89791402)del
NC_000016.10:g.(89779958_89782858)_(89796019_89799165)del
NC_000016.10:g.(89779958_89782858)_(89799233_89799604)del
NC_000016.10:g.(89782919_89783006)_(89783103_89784853)del
NC_000016.10:g.(89783103_89784853)_(89784965_89791402)del
NC_000016.10:g.(89784965_89791402)_(89792069_89792470)del
NC_000016.10:g.(89784965_89791402)_(89792548_89795905)del
NC_000016.10:g.(89784965_89791402)_(89796019_89799165)del
NC_000016.10:g.(89784965_89791402)_(89805393_89808293)del
NC_000016.10:g.(89784965_89791402)_(89808368_89810706)del
NC_000016.10:g.(89784965_89791402)_(89816657_?)del
NC_000016.10:g.(89791537_89791926)_(89792069_89792470)del
NC_000016.10:g.(89791537_89791926)_(89799233_89799604)del
NC_000016.10:g.(89792069_89792470)_(89799233_89799604)del
NC_000016.10:g.(89792069_89792470)_(89816657_?)del
NC_000016.10:g.(89792548_89795905)_(89803342_89805279)del
NC_000016.10:g.(89792548_89795905)_(89805393_89808293)del
NC_000016.10:g.(89792548_89795905)_(89816657_?)del
NC_000016.10:g.(89799639_89803258)_(89811072_89814519)del
NC_000016.10:g.(89803342_89805279)_(89805393_89808293)del
NC_000016.10:g.(89803342_89805279)_(89816657_?)del
NC_000016.10:g.(89805279_89805393)_(89816657_?)del
NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del
NC_000016.10:g.(89805393_89808293)_(89816657_?)del
NC_000016.10:g.(89808368_89810706)_(89810803_89810928)del
NC_000016.10:g.(89808368_89810706)_(89811072_89814519)del
NC_000016.10:g.(89808368_89810706)_(89815987_89816536)del
NC_000016.10:g.(89808368_89810706)_(89816657_?)del
NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del
NC_000016.10:g.(89814614_89815876)_(89816657_?)del
NC_000016.10:g.(89815987_89816536)_(89816657_?)del
NC_000016.10:g.(?_89737551)_(89740867_89742799)del
NC_000016.10:g.(?_89737551)_(89752222_89758576)del
NC_000016.10:g.(?_89737551)_(89752223_89758576)del
NC_000016.10:g.(?_89737551)_(89765067_89767140)del
NC_000016.10:g.(?_89737551)_(89784965_89791402)del
NC_000016.10:g.(?_89737551)_(89799639_89803258)del
NC_000016.10:g.(?_89737551)_(89814614_89815876)del
NC_000016.10:g.(?_89737551)_(89816657_?)del
NC_000016.10:g.88310445_88314136del
NC_000016.10:g.88314822_88320369del
NC_000016.10:g.88317551_88325754del
NC_000016.10:g.88322074_88332073del
NC_000016.10:g.88324127_88331653del
NC_000016.10:g.88334974_88341919del
NC_000016.10:g.88335235_88340023del
NC_000016.10:g.88341728_88343606del
NC_000016.10:g.88342444_88343618del
NC_000016.10:g.88342520_88343694del
NC_000016.10:g.88342678_88348626del
NC_000016.10:g.89748659_89762022del
NC_000016.10:g.89752141_89762025del
NC_000016.10:g.89754008_89816657del
NC_000016.10:g.89761950_89762023del rs2038967116
NC_000016.10:g.89807755_89816658del
NC_000016.10:g.89809185_89816657del
NC_000016.10:g.89811072del rs2040861554
NC_000016.9:g.(89816311_89818545)_(89871801_89874701)del
NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del
NC_000016.9:g.88172538_88337600del
NC_000016.9:g.88224066_88408991del
NC_000016.9:g.88257445_88409236del
NC_000016.9:g.89839142_89867355del
NC_000016.9:g.89840944_89876535del
NC_000016.9:g.89840966_89866228del
NC_000016.9:g.89844985_89869211del
NC_000016.9:g.89857046_89867362del
NC_000016.9:g.89863188_89878500del
NG_007406.1:g.(5249_8228)_(17155_19960)del
NM_000135.2(FANCA):c.(?_-42)_3066+281del
NM_000135.2(FANCA):c.(?_-42)_523-663del
NM_000135.2(FANCA):c.(?_-42)_523-828del
NM_000135.2(FANCA):c.(?_-42)_597-800del
NM_000135.2(FANCA):c.1006+539_3066+898del
NM_000135.2(FANCA):c.1006+727_1626+1288del
NM_000135.2(FANCA):c.1007-10_2504+209del
NM_000135.2(FANCA):c.1359+1138_1900+1140del
NM_000135.2(FANCA):c.1470+801_(*1050_?)del
NM_000135.2(FANCA):c.1626+1433_3349-564del
NM_000135.2(FANCA):c.1626+588_2778+888del
NM_000135.2(FANCA):c.1626+637_2778+1111del
NM_000135.2(FANCA):c.1716-215_2779-1067del
NM_000135.2(FANCA):c.1827-835_2779-1050del
NM_000135.2(FANCA):c.1901-1154_2779-889del
NM_000135.2(FANCA):c.2505-976_(*1050_?)del
NM_000135.2(FANCA):c.2852+553_(*1050_?)del
NM_000135.2(FANCA):c.2852+734_3067-376del
NM_000135.2(FANCA):c.2853-382_*1312del
NM_000135.2(FANCA):c.2981+611_*1153del
NM_000135.4(FANCA):c.1006+2_1006+5del rs2040229450
NM_000135.4(FANCA):c.1007-1del rs2040110823
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg) rs1045404649
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro) rs2040094645
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1147del (p.Glu383fs) rs2040092247
NM_000135.4(FANCA):c.1164_1165del (p.Arg388fs) rs2040091643
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs) rs2040090895
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg) rs2040089994
NM_000135.4(FANCA):c.1226-6_1226-2del rs2040076730
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1430del (p.Leu477fs) rs2039845956
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.1470+1G>T rs1555556175
NM_000135.4(FANCA):c.1470G>A (p.Gln490=) rs2039844218
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.14G>A (p.Trp5Ter) rs2041143697
NM_000135.4(FANCA):c.1508dup (p.Tyr503Ter) rs2039775751
NM_000135.4(FANCA):c.1566+3A>C rs2039773398
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1627-1G>T rs2039644862
NM_000135.4(FANCA):c.1703del (p.Val568fs) rs2039642419
NM_000135.4(FANCA):c.1709_1715+4del rs2039641869
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter) rs2041096125
NM_000135.4(FANCA):c.173dup (p.Asn58fs) rs2041095962
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1777-3_1783del rs2039605605
NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn) rs2039605345
NM_000135.4(FANCA):c.190-146_284-1082del
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-494_597-592del
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) rs2039386741
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr) rs1183781456
NM_000135.4(FANCA):c.2066del (p.Gly689fs) rs2039334639
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2121del (p.Asn707fs) rs2039331837
NM_000135.4(FANCA):c.2151+2_2151+3insG rs2039330307
NM_000135.4(FANCA):c.2151+328_2778+1085del
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro) rs2039290343
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro) rs2039289431
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2223-3C>G rs2039278966
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys) rs1239354393
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu) rs2039276663
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+1G>T rs2039275333
NM_000135.4(FANCA):c.2327dup (p.Ser777fs) rs2039267300
NM_000135.4(FANCA):c.233_236del (p.Ile78fs) rs2041026343
NM_000135.4(FANCA):c.2351dup (p.Leu784fs) rs2039266434
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro) rs1036897594
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro) rs1307805145
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2504+134A>G rs2039254077
NM_000135.4(FANCA):c.2504+2T>C rs2039260502
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg) rs1216922486
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp) rs374030577
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs) rs763378933
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2602-1G>A rs747823528
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2636C>T (p.Ala879Val) rs375919830
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2674del (p.Ser892fs) rs2039077507
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter) rs2039077331
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter) rs1354272260
NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro) rs2039075542
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2736dup (p.His913fs) rs2039074823
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2778+1G>C rs140180549
NM_000135.4(FANCA):c.2778+1G>T rs140180549
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg) rs2038969261
NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys) rs2038968872
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) rs766643461
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2827_2845dup (p.Thr949delinsSerTer) rs2038967521
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+1del rs2041024132
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.284-1328_705del
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter) rs2038844790
NM_000135.4(FANCA):c.285_522+1del rs2040843894
NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter) rs2038844292
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2982-192A>G rs2038628210
NM_000135.4(FANCA):c.2T>G (p.Met1Arg) rs769479800
NM_000135.4(FANCA):c.3021_3027del (p.Phe1008fs) rs2038617702
NM_000135.4(FANCA):c.3066+1G>A rs587783028
NM_000135.4(FANCA):c.3067-1G>A rs2038522097
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter) rs1270910813
NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter) rs1172710952
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer) rs2038517512
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3239+82T>G rs2038511531
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu) rs1555538571
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly) rs2038476999
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter) rs775799529
NM_000135.4(FANCA):c.331_334dup (p.Leu112fs) rs2040859131
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro) rs752837228
NM_000135.4(FANCA):c.3348+5G>A rs1343799019
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr) rs2038409656
NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val) rs2038408351
NM_000135.4(FANCA):c.3396_3399del (p.His1133fs) rs2038407808
NM_000135.4(FANCA):c.3398del (p.His1133fs) rs2038407878
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) rs2038399117
NM_000135.4(FANCA):c.3513G>A (p.Leu1171=) rs2038398296
NM_000135.4(FANCA):c.3560dup (p.His1188fs) rs2062211067
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter) rs2062210802
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro) rs770622823
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs) rs2062172394
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3639del (p.Glu1214fs) rs2062172051
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3715_3729del (p.Glu1239_Arg1243del) rs1375036674
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter) rs375700263
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3761_3764dup (p.Leu1256fs) rs2062169220
NM_000135.4(FANCA):c.3765+1G>T rs2062169124
NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del) rs2062115822
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu) rs2062115605
NM_000135.4(FANCA):c.3828+1G>T rs1432988639
NM_000135.4(FANCA):c.3828+2dup rs2062114186
NM_000135.4(FANCA):c.3829-1G>C rs2062090760
NM_000135.4(FANCA):c.3847_3857del (p.Lys1283fs) rs2062089925
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3917_3918del (p.Phe1306fs) rs1281446470
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3920del (p.Gln1307fs) rs1228394297
NM_000135.4(FANCA):c.3926_3929del (p.Thr1309fs) rs2062087915
NM_000135.4(FANCA):c.396dup (p.His133fs) rs2040855193
NM_000135.4(FANCA):c.3973G>C (p.Asp1325His) rs2062069547
NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly) rs1268944859
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4010_4010+18del rs2062066871
NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del) rs2062060149
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) rs773113065
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4064_4065dup (p.Val1356fs) rs2062057713
NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro) rs1456500627
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4083_4084insG (p.Leu1362fs) rs2062057035
NM_000135.4(FANCA):c.4123_4139del (p.Thr1375fs) rs2062054591
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter) rs199599393
NM_000135.4(FANCA):c.4168-1G>C rs2062047006
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro) rs749574677
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs) rs2062043035
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.4261-19_4261-12del rs1567591276
NM_000135.4(FANCA):c.4261-3C>G rs765478990
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa) rs2062027006
NM_000135.4(FANCA):c.427-2A>G rs765684774
NM_000135.4(FANCA):c.427-8_427-5del rs2040847430
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.448G>T (p.Glu150Ter) rs947111024
NM_000135.4(FANCA):c.44_69del (p.Pro15fs) rs2041137887
NM_000135.4(FANCA):c.470C>T (p.Ala157Val) rs1251792942
NM_000135.4(FANCA):c.487del (p.Arg163fs) rs2040845588
NM_000135.4(FANCA):c.505G>T (p.Glu169Ter) rs372691338
NM_000135.4(FANCA):c.50del (p.Gly17fs) rs748624754
NM_000135.4(FANCA):c.522+507_793-1273del
NM_000135.4(FANCA):c.596+548_793-219del
NM_000135.4(FANCA):c.597-2A>G rs2040602804
NM_000135.4(FANCA):c.629T>G (p.Leu210Arg) rs2040601073
NM_000135.4(FANCA):c.66G>A (p.Trp22Ter) rs2041138210
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly) rs1354884515
NM_000135.4(FANCA):c.709+1G>A rs753211631
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.710-5T>C rs2040523640
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.784del (p.Met262fs) rs2040520715
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.792G>A (p.Gln264=) rs2040520107
NM_000135.4(FANCA):c.793-2A>C rs2040372065
NM_000135.4(FANCA):c.795_808del (p.Thr266fs) rs2040370883
NM_000135.4(FANCA):c.820C>T (p.Leu274=) rs2040370137
NM_000135.4(FANCA):c.826+4del rs2040369776
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.851dup (p.Val285fs) rs1369685302
NM_000135.4(FANCA):c.88del (p.Val30fs) rs2041101804
NM_000135.4(FANCA):c.891_893+1del rs2040352874
NM_000135.4(FANCA):c.893+1G>T rs2040352832
NM_000135.4(FANCA):c.893+920C>A rs1174586234
NM_000135.4(FANCA):c.894-1137_1359+1837del
NM_000135.4(FANCA):c.894-1G>A rs2040234338
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.933_936delinsCT (p.Ser312fs) rs2040232900
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.978_979del (p.Gln326fs) rs2040231133
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.-262_-79+3686del
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1494T>G (p.Ala498=) rs76895298
NM_000136.3(FANCC):c.1550dup (p.Ile518fs) rs2071089000
NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter) rs2071086256
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.467del (p.Ser156fs) rs1825652623
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.662del (p.Glu221fs) rs1830058898
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865
NM_001018113.1(FANCB):c.(?_-268)_(*160_?)del
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter) rs143585647
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser) rs1602006737
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs) rs1601977912
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) rs1601977844
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.195dup (p.Thr66fs) rs1602006627
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001018113.3(FANCB):c.2165+1G>T rs1601977379
NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs) rs1601976655
NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs) rs1601976527
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs) rs1602005463
NM_001018113.3(FANCB):c.829dup (p.Cys277fs) rs1602005335
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter) rs1602005062
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro) rs1161918267
NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter) rs2086921262
NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs) rs2087073639
NM_001018115.3(FANCD2):c.1414-69_1545+258del rs2087125303
NM_001018115.3(FANCD2):c.1948-16T>G rs2087653225
NM_001018115.3(FANCD2):c.206-2A>T rs771573600
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter) rs1374735618
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs) rs762544228
NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter) rs1693433379
NM_001018115.3(FANCD2):c.2835dup (p.Asp947fs) rs1693439048
NM_001018115.3(FANCD2):c.2T>C (p.Met1Thr) rs2086516483
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.3599del (p.Ile1200fs) rs1694404041
NM_001018115.3(FANCD2):c.3706C>A (p.Arg1236Ser) rs771078251
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg) rs2086819957
NM_001018115.3(FANCD2):c.696-121C>G rs2086862509
NM_001018115.3(FANCD2):c.696-2A>T rs2086865333
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del) rs748327074
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg) rs146040966
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg) rs2054124504
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr) rs1361710673
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) rs2052048258
NM_001113378.2(FANCI):c.3058+4A>G rs2054616468
NM_001113378.2(FANCI):c.3350-88A>G rs2054700381
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs) rs2054707218
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile) rs757106031
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs) rs2055186253
NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del) rs2055264556
NM_001113378.2(FANCI):c.756-25_756-19del rs2053061271
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_004629.2(FANCG):c.1008dup (p.Pro337fs) rs1829086026
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1143+5G>A rs778328620
NM_004629.2(FANCG):c.1144-1G>C rs755363896
NM_004629.2(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1216dup (p.Gln406fs) rs758423821
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) rs1829056657
NM_004629.2(FANCG):c.1561G>T (p.Gly521Ter) rs1829055945
NM_004629.2(FANCG):c.1562G>A (p.Gly521Glu) rs1829055917
NM_004629.2(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.2(FANCG):c.1593del (p.Ala533fs) rs761519737
NM_004629.2(FANCG):c.1636G>C (p.Gly546Arg) rs766086210
NM_004629.2(FANCG):c.1649del (p.Thr550fs) rs1829042768
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.1749del (p.Asp584fs) rs1829040508
NM_004629.2(FANCG):c.1761-1G>A rs1829035889
NM_004629.2(FANCG):c.1761-1G>C rs1829035889
NM_004629.2(FANCG):c.1763C>T (p.Ser588Phe) rs1420316004
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.244dup (p.Ala82fs) rs1829129696
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter) rs1829129603
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.307+2del rs1829128546
NM_004629.2(FANCG):c.565G>T (p.Glu189Ter) rs1829104194
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) rs755361015
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004629.2(FANCG):c.65G>C (p.Arg22Pro) rs1829144428
NM_004629.2(FANCG):c.778-1G>C rs767518932
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.883dup (p.Asp295fs) rs1829092483
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_014176.3(UBE2T):c.-65+1253_*12383del
NM_014176.4(UBE2T):c.110-280_468+264del
NM_014176.4(UBE2T):c.110-280_468+264dup
NM_014176.4(UBE2T):c.179+5G>A rs796052212
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.436del (p.Val146fs) rs1767313373
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter) rs1767152512
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.4(FANCF):c.496C>T (p.Gln166Ter) rs766279442
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) rs1479457172
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs) rs180177134
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp) rs1603342316
NM_032043.3(BRIP1):c.1629-498A>T rs1203185416
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.765G>T (p.Gln255His) rs2078111971
NM_032444.4(SLX4):c.1093del (p.Gln365fs) rs1218169126
NM_032444.4(SLX4):c.1163+3dup rs2040719776
NM_032444.4(SLX4):c.1367-2A>G rs2040679706
NM_032444.4(SLX4):c.2013+225_3147delinsCC
NM_032444.4(SLX4):c.286del (p.Thr96fs) rs1596534281
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071

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