ClinVar Miner

List of variants reported as pathogenic for aplastic anemia by Invitae

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2080
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000136.3(FANCC):c.355_358del (p.Ser119fs) rs750003253 0.00019
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 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_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00011
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_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
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_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321 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_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.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 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_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_004629.2(FANCG):c.832dup (p.Ala278fs) rs1290655946 0.00004
NM_020937.4(FANCM):c.1777C>T (p.Arg593Ter) rs773014744 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 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_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter) rs751954386 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 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.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.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 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_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter) rs1011870043 0.00002
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520 0.00002
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533 0.00002
NM_032043.3(BRIP1):c.633del (p.Gly212fs) rs779466229 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_058216.3(RAD51C):c.837+1G>A rs760235677 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.1645C>T (p.Gln549Ter) rs779745863 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000135.4(FANCA):c.184del (p.Glu63fs) rs1260966020 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.2233dup (p.Trp745fs) rs2039278551 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.2638C>T (p.Arg880Ter) rs762804216 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2786del (p.Tyr929fs) rs779480428 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 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.4085T>A (p.Leu1362Ter) rs745688750 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.793-3C>G rs749688050 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.108_109dup (p.His37fs) rs1057517131 0.00001
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227 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.1628C>A (p.Ser543Ter) rs867319477 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.45G>A (p.Trp15Ter) rs1831179586 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.916_917del (p.Asp306fs) rs779806106 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) rs764507146 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.696-1G>A rs954555240 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 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.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.2761C>T (p.Gln921Ter) rs1303324683 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter) rs771312042 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 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.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter) rs762738968 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_018062.4(FANCL):c.1A>T (p.Met1Leu) rs772037896 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018062.4(FANCL):c.565C>T (p.Gln189Ter) rs1191111879 0.00001
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter) rs1156577591 0.00001
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter) rs1034818403 0.00001
NM_020937.4(FANCM):c.1717C>T (p.Arg573Ter) rs140760056 0.00001
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter) rs374626826 0.00001
NM_020937.4(FANCM):c.1969C>T (p.Gln657Ter) rs903442271 0.00001
NM_020937.4(FANCM):c.2578G>T (p.Glu860Ter) rs1383262366 0.00001
NM_020937.4(FANCM):c.2831_2832insAATATTCAATTATATTATTACAT (p.Gly945fs) rs1888623566 0.00001
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs) rs757391108 0.00001
NM_020937.4(FANCM):c.4003_4004insG (p.Lys1335fs) rs1566766719 0.00001
NM_020937.4(FANCM):c.4401del (p.Ser1468fs) rs1405059699 0.00001
NM_020937.4(FANCM):c.5221dup (p.Thr1741fs) rs758498345 0.00001
NM_020937.4(FANCM):c.5530del (p.Gln1844fs) rs778451008 0.00001
NM_020937.4(FANCM):c.5647C>T (p.Gln1883Ter) rs1379375089 0.00001
NM_020937.4(FANCM):c.679C>T (p.Gln227Ter) rs1209536013 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter) rs760150539 0.00001
NM_022725.4(FANCF):c.2T>G (p.Met1Arg) rs745495865 0.00001
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_032043.3(BRIP1):c.1594dup (p.Met532fs) rs1339743866 0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885 0.00001
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter) rs752411477 0.00001
NM_032043.3(BRIP1):c.2525_2538del (p.Leu842fs) rs2061477722 0.00001
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs) rs752780954 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter) rs1265030199 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter) rs1267428175 0.00001
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter) rs200715208 0.00001
NM_032444.4(SLX4):c.2808_2809del (p.Ala938fs) rs767631456 0.00001
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs) rs763914156 0.00001
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter) rs1291935778 0.00001
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263 0.00001
NM_058216.3(RAD51C):c.404+2T>C rs730881931 0.00001
NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter) rs1060502588 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NC_000001.10:g.(?_24021140)_(24022863_?)del
NC_000001.10:g.(?_93297672)_(93307422_?)del
NC_000001.11:g.(?_23691814)_(23696383_?)del
NC_000001.11:g.(?_23691824)_(23696373_?)del
NC_000001.11:g.(?_23695788)_(23696383_?)del
NC_000001.11:g.(?_92832109)_(92833666_?)del
NC_000002.11:g.(?_58386900)_(58459267_?)del
NC_000002.11:g.(?_58425719)_(58433394_?)del
NC_000002.11:g.(?_58459169)_(58468448_?)del
NC_000002.11:g.(?_58468333)_(58468448_?)del
NC_000002.12:g.(?_58159755)_(58241323_?)del
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
NC_000002.12:g.58232113del
NC_000003.11:g.(?_10070342)_(10074666_?)del
NC_000003.11:g.(?_10070342)_(10094191_?)del
NC_000003.11:g.(?_10070342)_(10140634_?)del
NC_000003.11:g.(?_10070342)_(10191719_?)del
NC_000003.11:g.(?_10074510)_(10085282_?)del
NC_000003.11:g.(?_10080953)_(10085558_?)del
NC_000003.11:g.(?_10105466)_(10107188_?)del
NC_000003.11:g.(?_10108063)_(10114567_?)del
NC_000003.11:g.(?_10127476)_(10136978_?)del
NC_000003.11:g.(?_10130113)_(10133956_?)del
NC_000003.12:g.(?_10028648)_(10043874_?)del
NC_000003.12:g.(?_10028648)_(10046733_?)del
NC_000003.12:g.(?_10064723)_(10146642_?)del
NC_000003.12:g.(?_197950958)_(197955783_?)del
NC_000003.12:g.(?_197950962)_(197955779_?)del
NC_000009.11:g.(?_97861619)_(97869538_?)del
NC_000009.11:g.(?_97863979)_(97934439_?)del
NC_000009.11:g.(?_97873735)_(97897794_?)del
NC_000009.11:g.(?_97876901)_(97879682_?)del
NC_000009.11:g.(?_97897618)_(97912379_?)del
NC_000009.11:g.(?_98002921)_(98011661_?)del
NC_000009.11:g.(?_98009704)_(98009808_?)del
NC_000009.12:g.(?_35076714)_(35077111_?)del
NC_000009.12:g.(?_95101700)_(95508367_?)del
NC_000009.12:g.(?_95114619)_(95114720_?)del
NC_000009.12:g.(?_95135336)_(95135512_?)del
NC_000009.12:g.(?_95135336)_(95249379_?)del
NC_000009.12:g.(?_95149913)_(95172157_?)del
NC_000009.12:g.(?_95240639)_(95240753_?)del
NC_000009.12:g.35079242del
NC_000010.11:g.(?_78033902)_(78033914_?)del
NC_000012.11:g.(?_56396006)_(56437938_?)del
NC_000014.8:g.(?_44820816)_(45645917_?)del
NC_000014.8:g.(?_45605235)_(45609922_?)del
NC_000014.8:g.(?_45618030)_(45646189_?)del
NC_000014.8:g.(?_45636143)_(45665760_?)del
NC_000014.8:g.(?_45639782)_(45669211_?)del
NC_000014.8:g.(?_45642248)_(45669211_?)del
NC_000014.9:g.(?_45136032)_(45200008_?)del
NC_000014.9:g.(?_45166940)_(45167173_?)del
NC_000015.10:g.(?_89247629)_(89317131_?)del
NC_000015.9:g.(?_89790873)_(89876991_?)del
NC_000015.9:g.(?_89801915)_(89802027_?)del
NC_000015.9:g.(?_89858493)_(89860078_?)del
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.10:g.(?_3606464)_(3608974_?)del
NC_000016.10:g.(?_3608430)_(3609566_?)del
NC_000016.10:g.(?_89738591)_(89742948_?)del
NC_000016.10:g.(?_89738591)_(89762032_?)del
NC_000016.10:g.(?_89738591)_(89816625_?)del
NC_000016.10:g.(?_89738591)_(89920222_?)del
NC_000016.10:g.(?_89748641)_(89758720_?)del
NC_000016.10:g.(?_89748641)_(89765076_?)del
NC_000016.10:g.(?_89748649)_(89758715_?)del
NC_000016.10:g.(?_89748649)_(89765076_?)del
NC_000016.10:g.(?_89752128)_(89792557_?)del
NC_000016.10:g.(?_89752128)_(89808377_?)del
NC_000016.10:g.(?_89752128)_(89816625_?)del
NC_000016.10:g.(?_89752138)_(89792547_?)del
NC_000016.10:g.(?_89758567)_(89784974_?)del
NC_000016.10:g.(?_89758567)_(89808377_?)del
NC_000016.10:g.(?_89758571)_(89784970_?)del
NC_000016.10:g.(?_89761939)_(89765076_?)del
NC_000016.10:g.(?_89761939)_(89816616_?)del
NC_000016.10:g.(?_89761943)_(89920218_?)del
NC_000016.10:g.(?_89764807)_(89775825_?)del
NC_000016.10:g.(?_89764807)_(89805402_?)del
NC_000016.10:g.(?_89764880)_(89773394_?)del
NC_000016.10:g.(?_89767131)_(89784974_?)del
NC_000016.10:g.(?_89767131)_(89799648_?)del
NC_000016.10:g.(?_89767135)_(89816621_?)del
NC_000016.10:g.(?_89775736)_(89775821_?)del
NC_000016.10:g.(?_89778791)_(89779967_?)del
NC_000016.10:g.(?_89778791)_(89816625_?)del
NC_000016.10:g.(?_89782849)_(89796028_?)del
NC_000016.10:g.(?_89782853)_(89784970_?)del
NC_000016.10:g.(?_89784844)_(89784974_?)del
NC_000016.10:g.(?_89791393)_(89796028_?)del
NC_000016.10:g.(?_89791393)_(89811081_?)del
NC_000016.10:g.(?_89791397)_(89792553_?)del
NC_000016.10:g.(?_89791402)_(89816615_?)del
NC_000016.10:g.(?_89791403)_(89796018_?)del
NC_000016.10:g.(?_89798246)_(89799648_?)del
NC_000016.10:g.(?_89799156)_(89799648_?)del
NC_000016.10:g.(?_89803249)_(89808377_?)del
NC_000016.10:g.(?_89803249)_(89811081_?)del
NC_000016.10:g.(?_89808284)_(89816616_?)del
NC_000016.10:g.(?_89808284)_(89816625_?)del
NC_000016.10:g.(?_89810697)_(89816616_?)del
NC_000016.10:g.(?_89810701)_(89816621_?)del
NC_000016.10:g.(?_89814510)_(89816625_?)del
NC_000016.10:g.(?_89814514)_(89816621_?)del
NC_000016.10:g.(?_89815867)_(89816625_?)del
NC_000016.10:g.89746689dup
NC_000016.9:g.(?_14020398)_(14022112_?)del
NC_000016.9:g.(?_14038570)_(14038702_?)del
NC_000016.9:g.(?_3632343)_(3633531_?)del
NC_000016.9:g.(?_3632343)_(3658965_?)del
NC_000016.9:g.(?_3634760)_(3634882_?)del
NC_000016.9:g.(?_3658425)_(3658971_?)del
NC_000016.9:g.(?_89712474)_(89866066_?)del
NC_000016.9:g.(?_89804999)_(89825128_?)del
NC_000016.9:g.(?_89804999)_(89874785_?)del
NC_000016.9:g.(?_89805009)_(89806517_?)del
NC_000016.9:g.(?_89805009)_(89825123_?)del
NC_000016.9:g.(?_89805009)_(89833665_?)del
NC_000016.9:g.(?_89805009)_(89851382_?)del
NC_000016.9:g.(?_89805009)_(89883024_?)del
NC_000016.9:g.(?_89807202)_(89883024_?)del
NC_000016.9:g.(?_89809188)_(89846385_?)del
NC_000016.9:g.(?_89809198)_(89809356_?)del
NC_000016.9:g.(?_89809198)_(89833655_?)del
NC_000016.9:g.(?_89809198)_(89842233_?)del
NC_000016.9:g.(?_89811347)_(89849530_?)del
NC_000016.9:g.(?_89811357)_(89815185_?)del
NC_000016.9:g.(?_89811357)_(89842233_?)del
NC_000016.9:g.(?_89815047)_(89816330_?)del
NC_000016.9:g.(?_89815049)_(89883033_?)del
NC_000016.9:g.(?_89816056)_(89816320_?)del
NC_000016.9:g.(?_89816056)_(89849520_?)del
NC_000016.9:g.(?_89818526)_(89874795_?)del
NC_000016.9:g.(?_89818536)_(89818822_?)del
NC_000016.9:g.(?_89818536)_(89825128_?)del
NC_000016.9:g.(?_89818536)_(89839802_?)del
NC_000016.9:g.(?_89818536)_(89846375_?)del
NC_000016.9:g.(?_89818536)_(89877489_?)del
NC_000016.9:g.(?_89824965)_(89825133_?)del
NC_000016.9:g.(?_89824975)_(89828440_?)del
NC_000016.9:g.(?_89824975)_(89839802_?)del
NC_000016.9:g.(?_89824975)_(89842233_?)del
NC_000016.9:g.(?_89824975)_(89883033_?)del
NC_000016.9:g.(?_89825110)_(89923062_?)del
NC_000016.9:g.(?_89828347)_(89839802_?)del
NC_000016.9:g.(?_89828347)_(89842233_?)del
NC_000016.9:g.(?_89828347)_(89862436_?)del
NC_000016.9:g.(?_89828347)_(89874785_?)del
NC_000016.9:g.(?_89831215)_(89831494_?)del
NC_000016.9:g.(?_89831215)_(89849520_?)del
NC_000016.9:g.(?_89831292)_(89833651_?)del
NC_000016.9:g.(?_89833539)_(89833655_?)del
NC_000016.9:g.(?_89833539)_(89839802_?)del
NC_000016.9:g.(?_89833539)_(89842233_?)del
NC_000016.9:g.(?_89833539)_(89858965_?)del
NC_000016.9:g.(?_89833539)_(89862436_?)del
NC_000016.9:g.(?_89836111)_(89839802_?)del
NC_000016.9:g.(?_89836111)_(89858965_?)del
NC_000016.9:g.(?_89836111)_(89883033_?)del
NC_000016.9:g.(?_89836805)_(89883033_?)del
NC_000016.9:g.(?_89836962)_(89838232_?)del
NC_000016.9:g.(?_89838076)_(89842233_?)del
NC_000016.9:g.(?_89838076)_(89858965_?)del
NC_000016.9:g.(?_89838076)_(89874785_?)del
NC_000016.9:g.(?_89838076)_(89883033_?)del
NC_000016.9:g.(?_89839659)_(89851392_?)del
NC_000016.9:g.(?_89839669)_(89866056_?)del
NC_000016.9:g.(?_89842140)_(89842233_?)del
NC_000016.9:g.(?_89842140)_(89845421_?)del
NC_000016.9:g.(?_89842140)_(89846375_?)del
NC_000016.9:g.(?_89842140)_(89851382_?)del
NC_000016.9:g.(?_89842140)_(89866056_?)del
NC_000016.9:g.(?_89845199)_(89849520_?)del
NC_000016.9:g.(?_89845199)_(89866056_?)del
NC_000016.9:g.(?_89845199)_(89871810_?)del
NC_000016.9:g.(?_89845199)_(89874785_?)del
NC_000016.9:g.(?_89846267)_(89883024_?)del
NC_000016.9:g.(?_89849247)_(89866066_?)del
NC_000016.9:g.(?_89849257)_(89871810_?)del
NC_000016.9:g.(?_89849257)_(89874785_?)del
NC_000016.9:g.(?_89857801)_(89858965_?)del
NC_000016.9:g.(?_89857801)_(89874785_?)del
NC_000016.9:g.(?_89862294)_(89883023_?)del
NC_000016.9:g.(?_89862304)_(89866056_?)del
NC_000016.9:g.(?_89862304)_(89869759_?)del
NC_000016.9:g.(?_89864654)_(89883024_?)del
NC_000016.9:g.(?_89864654)_(89883033_?)del
NC_000016.9:g.(?_89869657)_(89871810_?)del
NC_000016.9:g.(?_89871678)_(89877489_?)del
NC_000016.9:g.(?_89874692)_(89881031_?)del
NC_000016.9:g.(?_89877105)_(89877489_?)del
NC_000016.9:g.(?_89880908)_(89883023_?)del
NC_000016.9:g.(?_89880918)_(89881031_?)del
NC_000017.10:g.(?_56769920)_(56811662_?)del
NC_000017.10:g.(?_56769986)_(56774230_?)del
NC_000017.10:g.(?_56769999)_(56787357_?)del
NC_000017.10:g.(?_56772282)_(56772560_?)del
NC_000017.10:g.(?_56774044)_(56774230_?)del
NC_000017.10:g.(?_56780547)_(56787361_?)del
NC_000017.10:g.(?_56780551)_(56787357_?)del
NC_000017.10:g.(?_56787200)_(56787371_?)del
NC_000017.10:g.(?_56798097)_(56798183_?)del
NC_000017.10:g.(?_56798097)_(56801482_?)del
NC_000017.10:g.(?_59760657)_(59761511_?)del
NC_000017.10:g.(?_59760657)_(59763536_?)del
NC_000017.10:g.(?_59760657)_(59770883_?)del
NC_000017.10:g.(?_59760657)_(59821962_?)del
NC_000017.10:g.(?_59760657)_(59861805_?)del
NC_000017.10:g.(?_59760657)_(59871100_?)del
NC_000017.10:g.(?_59760657)_(59934602_?)del
NC_000017.10:g.(?_59770781)_(59770883_?)del
NC_000017.10:g.(?_59770781)_(59938900_?)del
NC_000017.10:g.(?_59820364)_(59886128_?)del
NC_000017.10:g.(?_59853752)_(59858376_?)del
NC_000017.10:g.(?_59857612)_(59858376_?)del
NC_000017.10:g.(?_59858191)_(59858864_?)del
NC_000017.10:g.(?_59861621)_(59861795_?)del
NC_000017.10:g.(?_59861718)_(59940920_?)del
NC_000017.10:g.(?_59870948)_(59871100_?)del
NC_000017.10:g.(?_59876451)_(59886128_?)del
NC_000017.10:g.(?_59924452)_(59938900_?)del
NC_000017.10:g.(?_59926480)_(59926627_?)del
NC_000017.10:g.(?_59926480)_(59934602_?)del
NC_000017.10:g.(?_59937147)_(59937278_?)del
NC_000017.10:g.(?_59937147)_(59938900_?)del
NC_000017.10:g.(?_8136214)_(8285628_?)del
NC_000017.11:g.(?_58692625)_(58710000_?)del
NC_000017.11:g.(?_58692625)_(58734222_?)del
NC_000017.11:g.(?_58692634)_(58692798_?)del
NC_000017.11:g.(?_58692634)_(58703339_?)del
NC_000017.11:g.(?_58692634)_(58710000_?)del
NC_000017.11:g.(?_58692634)_(58734232_?)del
NC_000017.11:g.(?_58692638)_(58734228_?)del
NC_000017.11:g.(?_58696687)_(58696865_?)del
NC_000017.11:g.(?_58703186)_(58703339_?)del
NC_000017.11:g.(?_58703186)_(58734222_?)del
NC_000017.11:g.(?_58703186)_(58734232_?)del
NC_000017.11:g.(?_58703196)_(58709990_?)del
NC_000017.11:g.(?_58709849)_(58734222_?)del
NC_000017.11:g.(?_58709849)_(58734232_?)del
NC_000017.11:g.(?_58720736)_(58734222_?)del
NC_000017.11:g.(?_58720736)_(58734232_?)del
NC_000017.11:g.(?_58720736)_(58734352_?)del
NC_000017.11:g.(?_58720740)_(58720818_?)del
NC_000017.11:g.(?_58720740)_(58724106_?)del
NC_000017.11:g.(?_58720746)_(58734342_?)del
NC_000017.11:g.(?_58732474)_(58734222_?)del
NC_000017.11:g.(?_58732474)_(58734232_?)del
NC_000017.11:g.(?_61683286)_(61693522_?)del
NC_000017.11:g.(?_61683286)_(61716073_?)del
NC_000017.11:g.(?_61683290)_(61684146_?)del
NC_000017.11:g.(?_61683296)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61716073_?)del
NC_000017.11:g.(?_61715941)_(61808767_?)del
NC_000017.11:g.(?_61743007)_(61808763_?)del
NC_000017.11:g.(?_61744422)_(61744601_?)del
NC_000017.11:g.(?_61776391)_(61808767_?)del
NC_000017.11:g.(?_61776395)_(61801480_?)del
NC_000017.11:g.(?_61776395)_(61861545_?)del
NC_000017.11:g.(?_61780255)_(61781011_?)del
NC_000017.11:g.(?_61799090)_(61801484_?)del
NC_000017.11:g.(?_61847091)_(61849266_?)del
NC_000017.11:g.(?_61847091)_(61861549_?)del
NC_000017.11:g.(?_61847101)_(61849256_?)del
NC_000017.11:g.(?_61857048)_(61861539_?)del
NC_000017.11:g.(?_61857048)_(61861549_?)del
NC_000017.11:g.(?_61857052)_(61861545_?)del
NC_000017.11:g.(?_61859786)_(61861549_?)del
NC_000017.11:g.(?_7669603)_(8382316_?)del
NC_000019.9:g.(?_42363988)_(42364925_?)del
NC_000019.9:g.(?_42363988)_(42375445_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NC_000023.10:g.(?_14861689)_(14891184_?)del
NC_000023.10:g.(?_14875974)_(14891184_?)del
NC_000023.10:g.(?_48542243)_(48652571_?)del
NM_000135.2(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.-1_2del (p.Met1del) rs2143732272
NM_000135.4(FANCA):c.1007-1G>A
NM_000135.4(FANCA):c.102dup (p.Tyr35fs)
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1034_1040del (p.Glu345fs) rs2143534611
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter) rs773687142
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1084-1G>A rs2040094761
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer) rs2040092520
NM_000135.4(FANCA):c.1147del (p.Glu383fs) rs2040092247
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs) rs2143529729
NM_000135.4(FANCA):c.118dup (p.Ala40fs) rs2143724113
NM_000135.4(FANCA):c.1194del (p.Cys399fs) rs2040090995
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1202del (p.Pro401fs) rs2040090741
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)
NM_000135.4(FANCA):c.1226-1G>C rs1417768931
NM_000135.4(FANCA):c.1259del (p.Glu420fs)
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs) rs1211579979
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.1318G>T (p.Glu440Ter) rs2040073991
NM_000135.4(FANCA):c.1339del (p.Ser447fs) rs2143525756
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs) rs2143525701
NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter) rs2143525603
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.137C>G (p.Ser46Ter) rs2041098068
NM_000135.4(FANCA):c.1417del (p.Leu473fs) rs2039846326
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter) rs1432415523
NM_000135.4(FANCA):c.1459dup (p.Arg487fs) rs2039844868
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) rs1266348463
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)
NM_000135.4(FANCA):c.1590_1591del (p.Tyr531fs) rs2143459144
NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter) rs762342197
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1615dup (p.Asp539fs)
NM_000135.4(FANCA):c.1630dup (p.His544fs) rs1598129626
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter) rs2041096125
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs) rs2143422286
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter) rs2039604081
NM_000135.4(FANCA):c.1824dup (p.Arg609fs) rs1598127082
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs) rs2143393148
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter) rs747994845
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2A>G
NM_000135.4(FANCA):c.1900+1del
NM_000135.4(FANCA):c.1948dup (p.Leu650fs)
NM_000135.4(FANCA):c.1953del (p.Gln652fs)
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1del (p.Met1fs)
NM_000135.4(FANCA):c.2001dup (p.Ser668fs) rs2143366568
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) rs2039386741
NM_000135.4(FANCA):c.200del (p.Pro67fs)
NM_000135.4(FANCA):c.2014+1del rs2143366415
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs) rs2143351554
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs) rs2143351188
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter) rs941660593
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter) rs781436006
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs) rs1394491958
NM_000135.4(FANCA):c.221_222del (p.Leu74fs) rs2041026878
NM_000135.4(FANCA):c.2242del (p.Leu748fs) rs2143336491
NM_000135.4(FANCA):c.2244del (p.Phe749fs) rs2143336461
NM_000135.4(FANCA):c.2253dup (p.Thr752fs) rs2143336354
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs)
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) rs751572448
NM_000135.4(FANCA):c.2293del (p.Leu765fs)
NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter) rs947786901
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.233_236del (p.Ile78fs) rs2041026343
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
NM_000135.4(FANCA):c.2482dup (p.Asp828fs) rs2143331597
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (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.2551C>T (p.Gln851Ter) rs1406289451
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) rs761469030
NM_000135.4(FANCA):c.2563dup (p.Thr855fs)
NM_000135.4(FANCA):c.2564del (p.Thr855fs) rs2143308216
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2600del (p.Lys867fs) rs2039156731
NM_000135.4(FANCA):c.2602-1G>A rs747823528
NM_000135.4(FANCA):c.2602-1G>T rs747823528
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) rs762804216
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter) rs1487360770
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter) rs2039077331
NM_000135.4(FANCA):c.2707dup (p.Trp903fs) rs1225564406
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter) rs1354272260
NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter) rs2039076227
NM_000135.4(FANCA):c.2717del (p.Ala906fs) rs2143288542
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2739_2740del (p.His913fs) rs1186669727
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+1G>C rs140180549
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.279del (p.Phe93fs)
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.283+1G>A rs1232171121
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+2T>C
NM_000135.4(FANCA):c.283+2T>G
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs)
NM_000135.4(FANCA):c.2832dup (p.Ala945fs) rs2143260759
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.284-1328_705del
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.2885_2888dup (p.Phe963fs)
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs)
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter) rs1192724266
NM_000135.4(FANCA):c.291_295del (p.Leu98fs)
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs)
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer) rs1598191053
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
NM_000135.4(FANCA):c.2T>G (p.Met1Arg) rs769479800
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs) rs2143163813
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter) rs2143163267
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter) rs1270910813
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs) rs2143139284
NM_000135.4(FANCA):c.3116del (p.Gly1039fs)
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs) rs2143139061
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs) rs2143138748
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.3164_3179del (p.Arg1055fs)
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter) rs373545111
NM_000135.4(FANCA):c.3169del (p.Gln1057fs) rs2143138814
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs)
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs)
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.319del (p.Val107fs) rs1411237340
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs) rs2143138138
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter) rs764030196
NM_000135.4(FANCA):c.3239+1G>A rs2143137762
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs) rs2143128346
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs) rs1035003476
NM_000135.4(FANCA):c.3270_3271del (p.Cys1091fs) rs2143128062
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter) rs1450151864
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer)
NM_000135.4(FANCA):c.3328del (p.His1110fs)
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3348+2T>G
NM_000135.4(FANCA):c.3349-1G>C
NM_000135.4(FANCA):c.3349-2A>G rs2038409874
NM_000135.4(FANCA):c.3394_3395del (p.Ala1132fs)
NM_000135.4(FANCA):c.3397del (p.His1133fs) rs758917273
NM_000135.4(FANCA):c.3398del (p.His1133fs) rs2038407878
NM_000135.4(FANCA):c.339_340del (p.Ala114fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3401dup (p.Phe1135fs)
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs) rs2143106522
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs) rs2143106211
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) rs1598067532
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter) rs770393751
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter) rs1185165443
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter) rs2062210802
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.35_36insA (p.Gln13fs)
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter) rs1313006784
NM_000135.4(FANCA):c.3627-1G>C rs2062172440
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs) rs2062172394
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs) rs1304878514
NM_000135.4(FANCA):c.3638dup (p.Pro1213_Glu1214insTer) rs1567598488
NM_000135.4(FANCA):c.3639del (p.Glu1214fs) rs2062172051
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter) rs2143062233
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs)
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs) rs2143060935
NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter) rs2062169243
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter) rs752800577
NM_000135.4(FANCA):c.3818dup (p.Thr1274fs)
NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3878del (p.Glu1293fs) rs2062089336
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs) rs2151714692
NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
NM_000135.4(FANCA):c.3910del (p.Ala1304fs) rs2151714666
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.3920del (p.Gln1307fs) rs1228394297
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs) rs2151714603
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.3935-1G>A rs1555533693
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3935-2A>T rs1189106357
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000135.4(FANCA):c.4011-1G>C rs761988162
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) rs773113065
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000135.4(FANCA):c.4110dup (p.Gly1371fs)
NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs) rs1567592815
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>A
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs) rs2062046121
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter) rs2040853528
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter) rs2151710810
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs) rs2062043035
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.4250_4251del (p.His1417fs)
NM_000135.4(FANCA):c.4255del (p.Ala1419fs) rs2151710687
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.4279dup (p.Asp1427fs)
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000135.4(FANCA):c.443del (p.Leu148fs)
NM_000135.4(FANCA):c.447dup (p.Glu150fs) rs2040846500
NM_000135.4(FANCA):c.44_69del (p.Pro15fs) rs2041137887
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter) rs774448881
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)
NM_000135.4(FANCA):c.50del (p.Gly17fs) rs748624754
NM_000135.4(FANCA):c.542dup (p.Val182fs)
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.555del (p.His186fs)
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter) rs776471397
NM_000135.4(FANCA):c.597-2A>T
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter) rs2143632171
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
NM_000135.4(FANCA):c.643_644del (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter) rs2040599267
NM_000135.4(FANCA):c.709+1G>A rs753211631
NM_000135.4(FANCA):c.709+1G>C rs753211631
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter) rs1311396994
NM_000135.4(FANCA):c.710-5T>C rs2040523640
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter) rs868620166
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)
NM_000135.4(FANCA):c.737del (p.Gly246fs) rs2143615845
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter) rs878853666
NM_000135.4(FANCA):c.770_771del (p.Val257fs)
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.792+1G>A rs2143615250
NM_000135.4(FANCA):c.792+1G>C
NM_000135.4(FANCA):c.793-1G>C rs1567642367
NM_000135.4(FANCA):c.800_801dup (p.Asp268fs) rs2143585362
NM_000135.4(FANCA):c.806_807del (p.Val269fs)
NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter)
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000135.4(FANCA):c.84_87del (p.Arg29fs)
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.891_893+1del rs2040352874
NM_000135.4(FANCA):c.893+1G>T rs2040352832
NM_000135.4(FANCA):c.897del (p.Phe299fs)
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.916dup (p.Thr306fs)
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter) rs2041101553
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.972del (p.Thr325fs)
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.985dup (p.Thr329fs)
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.1060C>T (p.Gln354Ter)
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1106del (p.Lys369fs)
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.1181G>A (p.Trp394Ter) rs2134551203
NM_000136.3(FANCC):c.1199del (p.Phe400fs) rs2134550787
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1209G>A (p.Trp403Ter)
NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1272G>A (p.Trp424Ter) rs2134548133
NM_000136.3(FANCC):c.1285_1297del (p.Tyr429fs)
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.129_142del (p.Glu43fs)
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.1321_1322del (p.Gln441fs) rs2071928804
NM_000136.3(FANCC):c.1327_1328del (p.Met443fs) rs2134546063
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1351_1352del (p.Gly451fs)
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs) rs2134456127
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.139A>T (p.Lys47Ter) rs1831172189
NM_000136.3(FANCC):c.140_143dup (p.Met48fs) rs1831171802
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs) rs1588029220
NM_000136.3(FANCC):c.1440dup (p.Ala481fs) rs2071512726
NM_000136.3(FANCC):c.1490G>A (p.Trp497Ter) rs762501862
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1533+1G>A
NM_000136.3(FANCC):c.1533+1G>T rs753885687
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1551_1552del (p.Glu517fs)
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1563dup (p.Ile522fs)
NM_000136.3(FANCC):c.1582C>T (p.Gln528Ter)
NM_000136.3(FANCC):c.1630_1631insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTANNNNNNNNNNAAAAAAAAAAGAAAGCCCTAGATCAG (p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer) rs2134382573
NM_000136.3(FANCC):c.165+1G>A
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.1655_1658dup (p.Leu554fs)
NM_000136.3(FANCC):c.16_23del (p.Val6fs)
NM_000136.3(FANCC):c.201del (p.Ile67fs) rs2136091157
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.226del (p.Trp76fs) rs2136090871
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) rs1189888124
NM_000136.3(FANCC):c.228del (p.Cys75_Trp76insTer) rs2136090829
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.251-2A>G rs1057517219
NM_000136.3(FANCC):c.251-2A>T
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.284_293del (p.Cys95fs) rs2136049324
NM_000136.3(FANCC):c.285T>A (p.Cys95Ter)
NM_000136.3(FANCC):c.293_296del (p.Ile98fs) rs754779102
NM_000136.3(FANCC):c.294_297del (p.Asn99fs)
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.319_340dup (p.Ile114delinsThrIleLysThrTer) rs2136048818
NM_000136.3(FANCC):c.323C>G (p.Ser108Ter) rs1830581816
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.343C>T (p.Gln115Ter)
NM_000136.3(FANCC):c.353T>G (p.Leu118Ter) rs1825725461
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.381del (p.Phe127fs) rs2135588524
NM_000136.3(FANCC):c.389_390del (p.Glu130fs) rs1564720605
NM_000136.3(FANCC):c.451A>T (p.Lys151Ter) rs1825714345
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.460del (p.Val154fs) rs1825653076
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.49_56del (p.Gln17fs)
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.532G>T (p.Glu178Ter)
NM_000136.3(FANCC):c.574dup (p.Thr192fs) rs2135428096
NM_000136.3(FANCC):c.595del (p.Leu199fs) rs1057519366
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.612del (p.Ile205fs)
NM_000136.3(FANCC):c.635del (p.Gln212fs) rs2135427018
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.646C>T (p.Gln216Ter)
NM_000136.3(FANCC):c.66G>A (p.Trp22Ter)
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.705del (p.Met236fs) rs2135168243
NM_000136.3(FANCC):c.723C>A (p.Cys241Ter) rs2135167716
NM_000136.3(FANCC):c.76dup (p.Ser26fs)
NM_000136.3(FANCC):c.797_798dup (p.Asn267fs)
NM_000136.3(FANCC):c.839C>A (p.Ser280Ter) rs749230615
NM_000136.3(FANCC):c.847C>T (p.Gln283Ter) rs1564667865
NM_000136.3(FANCC):c.863del (p.Pro288fs) rs2134968283
NM_000136.3(FANCC):c.883dup (p.Asp295fs) rs1826007748
NM_000136.3(FANCC):c.935_936del (p.Ile312fs)
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.957_958delinsTT (p.Gln320Ter) rs2134922671
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) rs1825775052
NM_000136.3(FANCC):c.992_995dup (p.Leu333fs)
NM_000136.3(FANCC):c.994C>T (p.Gln332Ter)
NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.153del (p.Met51fs) rs2100677043
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs) rs1571024385
NM_000969.5(RPL5):c.15dup (p.Val6fs) rs1686990676
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.173del (p.Arg58fs)
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
NM_000969.5(RPL5):c.1A>C (p.Met1Leu) rs2100672432
NM_000969.5(RPL5):c.215_218del (p.Asp72fs)
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.272del (p.Gly91fs)
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
NM_000969.5(RPL5):c.4-7_4-4del rs1558283792
NM_000969.5(RPL5):c.479_480del (p.Phe160fs)
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter) rs148673599
NM_000969.5(RPL5):c.500dup (p.Asp168fs) rs2100685034
NM_000969.5(RPL5):c.608dup (p.Asn203fs) rs2100688383
NM_000969.5(RPL5):c.634dup (p.Met212fs) rs1687178005
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000969.5(RPL5):c.71del (p.Arg24fs)
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
NM_000969.5(RPL5):c.9_12del (p.Phe3fs) rs1686990557
NM_000975.5(RPL11):c.100dup (p.Thr34fs)
NM_000975.5(RPL11):c.107del (p.Ala36fs) rs2124429127
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.121G>T (p.Glu41Ter) rs2124429140
NM_000975.5(RPL11):c.151dup (p.Ser51fs) rs2124429183
NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.160dup (p.Arg54fs) rs1644516691
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
NM_000975.5(RPL11):c.311del (p.Asn104fs)
NM_000975.5(RPL11):c.508-2A>G rs1570569383
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000975.5(RPL11):c.62_63del (p.Cys21fs) rs1570566592
NM_000975.5(RPL11):c.96_109del (p.Arg32fs)
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_001011.4(RPS7):c.-19+1G>T
NM_001011.4(RPS7):c.-19+2T>A
NM_001014.5(RPS10):c.1A>G (p.Met1Val) rs2113806114
NM_001014.5(RPS10):c.285_292del (p.Arg96fs) rs1581931439
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter) rs2147404831
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) rs2147445599
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)
NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001018115.3(FANCD2):c.1078del (p.Ile360fs)
NM_001018115.3(FANCD2):c.1102_1103insCC (p.Ile368fs)
NM_001018115.3(FANCD2):c.1116del (p.Ser373fs)
NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer) rs2125000318
NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs)
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
NM_001018115.3(FANCD2):c.1577dup (p.Gln527fs)
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)
NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter) rs1247410343
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.1916del (p.Ile639fs)
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs) rs1221526082
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
NM_001018115.3(FANCD2):c.2109_2110insGAGGT (p.Phe704fs)
NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)
NM_001018115.3(FANCD2):c.2138del (p.Gly713fs)
NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
NM_001018115.3(FANCD2):c.2158dup (p.Ser720fs)
NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2333_2334del (p.Glu778fs)
NM_001018115.3(FANCD2):c.2354_2355del (p.Leu785fs)
NM_001018115.3(FANCD2):c.235dup (p.Leu79fs) rs2124974621
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter) rs1374735618
NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)
NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001018115.3(FANCD2):c.2809del (p.His937fs)
NM_001018115.3(FANCD2):c.280del (p.Glu94fs)
NM_001018115.3(FANCD2):c.2837T>G (p.Leu946Ter)
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)
NM_001018115.3(FANCD2):c.283G>T (p.Glu95Ter)
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter) rs762724830
NM_001018115.3(FANCD2):c.2854del (p.Thr952fs)
NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs)
NM_001018115.3(FANCD2):c.3019A>T (p.Arg1007Ter)
NM_001018115.3(FANCD2):c.3024del (p.Ala1009fs)
NM_001018115.3(FANCD2):c.3034dup (p.Ile1012fs)
NM_001018115.3(FANCD2):c.3044del (p.Cys1015fs)
NM_001018115.3(FANCD2):c.308_312del (p.Ser102_Tyr103insTer)
NM_001018115.3(FANCD2):c.3103C>T (p.Gln1035Ter)
NM_001018115.3(FANCD2):c.3156_3157insGGAC (p.Gln1053fs)
NM_001018115.3(FANCD2):c.3187_3194del (p.Gln1063fs) rs2125060144
NM_001018115.3(FANCD2):c.3242del (p.Pro1081fs)
NM_001018115.3(FANCD2):c.3250C>T (p.Gln1084Ter)
NM_001018115.3(FANCD2):c.3271del (p.Leu1091fs)
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter) rs2125072527
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.347_351del (p.Leu115_Ser116insTer)
NM_001018115.3(FANCD2):c.3501G>A (p.Trp1167Ter)
NM_001018115.3(FANCD2):c.3501del (p.Trp1167fs)
NM_001018115.3(FANCD2):c.3502_3503insT (p.Pro1168fs)
NM_001018115.3(FANCD2):c.3541C>T (p.Gln1181Ter) rs1694376599
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)
NM_001018115.3(FANCD2):c.3693del (p.Phe1231fs)
NM_001018115.3(FANCD2):c.3752del (p.Pro1251fs)
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001018115.3(FANCD2):c.38_39del (p.Lys13fs)
NM_001018115.3(FANCD2):c.3902_3903del (p.Phe1301fs)
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter) rs148471911
NM_001018115.3(FANCD2):c.3998T>A (p.Leu1333Ter)
NM_001018115.3(FANCD2):c.400_401del (p.Leu135fs)
NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4140T>A (p.Cys1380Ter) rs954149471
NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)
NM_001018115.3(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)
NM_001018115.3(FANCD2):c.694del (p.Ser232fs)
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.723_737delinsTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGCCTCCGACTGGATGTC (p.Thr242fs)
NM_001018115.3(FANCD2):c.775del (p.Leu259fs) rs2124989402
NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_001022.4(RPS19):c.101del (p.Val34fs)
NM_001022.4(RPS19):c.13dup (p.Thr5fs) rs149420497
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) rs2074020491
NM_001022.4(RPS19):c.173-1G>T rs2123283622
NM_001022.4(RPS19):c.173-2A>G rs111833764
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.185G>C (p.Arg62Pro) rs1555841301
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
NM_001022.4(RPS19):c.257dup (p.Val87fs) rs2074118749
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.347del (p.Asp116fs)
NM_001022.4(RPS19):c.357-2A>G
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
NM_001022.4(RPS19):c.3G>A (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.3G>T (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter) rs144337183
NM_001022.4(RPS19):c.412-2A>G
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro) rs2074021310
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs) rs2123256254
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter) rs2074026880
NM_001029.5(RPS26):c.196A>T (p.Lys66Ter) rs1895918140
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.2T>G (p.Met1Arg) rs1895894261
NM_001029.5(RPS26):c.73_76del (p.Asn25fs) rs2136753850
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)
NM_001029.5(RPS26):c.9_12del (p.Lys4fs) rs2136753785
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
NM_001113378.2(FANCI):c.1105A>T (p.Lys369Ter)
NM_001113378.2(FANCI):c.1152dup (p.Leu385fs)
NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)
NM_001113378.2(FANCI):c.1202del (p.Gly401fs)
NM_001113378.2(FANCI):c.1312_1313del (p.Gln438fs)
NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter) rs2151549770
NM_001113378.2(FANCI):c.1407T>G (p.Tyr469Ter)
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2151580463
NM_001113378.2(FANCI):c.1674_1690del (p.Ser559fs) rs2053682638
NM_001113378.2(FANCI):c.1816del (p.Tyr606fs)
NM_001113378.2(FANCI):c.1852C>T (p.Gln618Ter)
NM_001113378.2(FANCI):c.1880_1886del (p.Leu627fs)
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)
NM_001113378.2(FANCI):c.1978_1979del (p.Leu660fs)
NM_001113378.2(FANCI):c.1986dup (p.Pro663fs)
NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)
NM_001113378.2(FANCI):c.2029del (p.Trp677fs) rs2151724213
NM_001113378.2(FANCI):c.2062G>T (p.Gly688Ter)
NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)
NM_001113378.2(FANCI):c.2191C>T (p.Gln731Ter)
NM_001113378.2(FANCI):c.2324_2327del (p.Phe775fs)
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
NM_001113378.2(FANCI):c.2340dup (p.Leu781fs)
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs) rs2151740576
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)
NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.2476C>T (p.Gln826Ter)
NM_001113378.2(FANCI):c.2593C>T (p.Gln865Ter)
NM_001113378.2(FANCI):c.2614C>T (p.Gln872Ter)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2833_2834del (p.Glu945fs)
NM_001113378.2(FANCI):c.2838del (p.Asp946fs)
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)
NM_001113378.2(FANCI):c.2900del (p.Leu966_Leu967insTer)
NM_001113378.2(FANCI):c.2933del (p.Asn978fs)
NM_001113378.2(FANCI):c.2946_2947del (p.Leu983fs)
NM_001113378.2(FANCI):c.3000_3004del (p.Pro1001fs) rs1596318782
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3146T>A (p.Leu1049Ter)
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3199G>T (p.Glu1067Ter)
NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)
NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter) rs2151924296
NM_001113378.2(FANCI):c.3471_3477del (p.Ser1157fs)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)
NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) rs1567175626
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3664_3665insCT (p.Ser1222fs)
NM_001113378.2(FANCI):c.3669_3672dup (p.Tyr1225fs) rs1596336945
NM_001113378.2(FANCI):c.3673_3679dup (p.Gly1227fs)
NM_001113378.2(FANCI):c.3684dup (p.Lys1229fs)
NM_001113378.2(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) rs2152017390
NM_001113378.2(FANCI):c.3808A>T (p.Lys1270Ter)
NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.474dup (p.Gln159fs)
NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)
NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)
NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_001113378.2(FANCI):c.508del (p.Asp170fs)
NM_001113378.2(FANCI):c.509del (p.Asp170fs)
NM_001113378.2(FANCI):c.630dup (p.Pro211fs)
NM_001113378.2(FANCI):c.632del (p.Pro211fs)
NM_001113378.2(FANCI):c.739G>T (p.Glu247Ter)
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.876_879del (p.His292fs) rs2053066105
NM_001113378.2(FANCI):c.878T>G (p.Leu293Ter)
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.912_916del (p.Asn304fs)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_002049.4(GATA1):c.-4_21del (p.Met1fs)
NM_002049.4(GATA1):c.105dup (p.Ser36fs) rs1273620943
NM_002049.4(GATA1):c.122_165del (p.Leu41fs)
NM_002049.4(GATA1):c.125_146del (p.Asp42fs)
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002049.4(GATA1):c.155_174dup (p.Ala59fs)
NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs) rs2147305695
NM_002049.4(GATA1):c.164_174dup (p.Ala59fs)
NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs) rs1602219139
NM_002049.4(GATA1):c.169_170insTG (p.Ala57fs)
NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs) rs2147305721
NM_002049.4(GATA1):c.182_183insGTGC (p.Tyr62fs)
NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)
NM_002049.4(GATA1):c.192_196del (p.Arg64fs) rs2147305736
NM_002049.4(GATA1):c.194_206del (p.Asp65fs)
NM_002049.4(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.4(GATA1):c.220+1G>T
NM_002049.4(GATA1):c.220+1del rs587776453
NM_002049.4(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs) rs2147306077
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.3G>T (p.Met1Ile) rs2147305526
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) rs2062673523
NM_002049.4(GATA1):c.5_8dup (p.Phe3fs) rs1602218917
NM_002049.4(GATA1):c.71_92dup (p.Phe33fs)
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.4(GATA1):c.90_91del (p.Val32fs) rs2147305615
NM_002049.4(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002049.4(GATA1):c.98dup (p.Phe34fs) rs2062673787
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1007C>A (p.Ser336Ter) rs2131055405
NM_004629.2(FANCG):c.1008dup (p.Pro337fs) rs1829086026
NM_004629.2(FANCG):c.1033C>T (p.Gln345Ter) rs2131055360
NM_004629.2(FANCG):c.1062C>A (p.Cys354Ter) rs745928033
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1091del (p.Ala364fs)
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter) rs1326382443
NM_004629.2(FANCG):c.1144-1G>A
NM_004629.2(FANCG):c.1144-2A>G
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.1167_1168del (p.Gly390fs)
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.1216C>T (p.Gln406Ter) rs748730134
NM_004629.2(FANCG):c.1216del (p.Gln406fs) rs758423821
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
NM_004629.2(FANCG):c.1246_1247del (p.Leu416fs) rs2131054083
NM_004629.2(FANCG):c.1248_1249del (p.Leu416_Cys417insTer)
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter) rs886063896
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) rs2131053943
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
NM_004629.2(FANCG):c.1352G>A (p.Trp451Ter)
NM_004629.2(FANCG):c.1428del (p.Phe476fs)
NM_004629.2(FANCG):c.1472_1473del (p.Lys491fs)
NM_004629.2(FANCG):c.1473del (p.Glu492fs)
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
NM_004629.2(FANCG):c.1483del rs760738460
NM_004629.2(FANCG):c.1497T>A (p.Cys499Ter)
NM_004629.2(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.2(FANCG):c.1572G>A (p.Trp524Ter) rs1461242610
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer) rs753485145
NM_004629.2(FANCG):c.1585C>T (p.Gln529Ter) rs1157985962
NM_004629.2(FANCG):c.1593del (p.Ala533fs) rs761519737
NM_004629.2(FANCG):c.1603C>T (p.Gln535Ter)
NM_004629.2(FANCG):c.1604dup (p.Asp536fs)
NM_004629.2(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter) rs2131051951
NM_004629.2(FANCG):c.1653del (p.His553fs)
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.182del (p.Pro61fs)
NM_004629.2(FANCG):c.214_217del (p.Thr72fs) rs747660501
NM_004629.2(FANCG):c.21dup (p.Val8fs)
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.319_320del (p.Gln107fs)
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_004629.2(FANCG):c.365G>A (p.Trp122Ter) rs2131058553
NM_004629.2(FANCG):c.380_386dup (p.Leu131fs)
NM_004629.2(FANCG):c.395dup (p.Pro133fs) rs2131058481
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.560del (p.Pro187fs) rs2131057213
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.601C>T (p.Gln201Ter)
NM_004629.2(FANCG):c.604G>T (p.Gly202Ter) rs1449918930
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.643C>T (p.Gln215Ter)
NM_004629.2(FANCG):c.684del (p.Ala228_Leu229insTer)
NM_004629.2(FANCG):c.689del (p.Ser230fs) rs2131056614
NM_004629.2(FANCG):c.692del (p.Ser231fs)
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
NM_004629.2(FANCG):c.713dup (p.Leu239fs) rs2131056549
NM_004629.2(FANCG):c.76C>T (p.Gln26Ter) rs2131060266
NM_004629.2(FANCG):c.787_788del (p.Gln263fs)
NM_004629.2(FANCG):c.824_825del (p.Glu275fs) rs867467817
NM_004629.2(FANCG):c.825_828del (p.Glu275fs)
NM_004629.2(FANCG):c.836G>A (p.Trp279Ter)
NM_004629.2(FANCG):c.883dup (p.Asp295fs) rs1829092483
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
NM_004629.2(FANCG):c.941del (p.Cys314fs)
NM_004629.2(FANCG):c.981dup (p.Leu328fs) rs2131055463
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) rs772899497
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter) rs774510191
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) rs1419167361
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter) rs1355878901
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
NM_005236.3(ERCC4):c.68del (p.Val23fs)
NM_005236.3(ERCC4):c.793-2A>G rs2032155264
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
NM_005236.3(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.13del (p.Glu5fs)
NM_018062.4(FANCL):c.1A>C (p.Met1Leu)
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)
NM_018062.4(FANCL):c.235del (p.Asp79fs)
NM_018062.4(FANCL):c.268del (p.Leu90fs) rs869320684
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter) rs1196510455
NM_018062.4(FANCL):c.2T>G (p.Met1Arg) rs761291501
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
NM_018062.4(FANCL):c.320del (p.Pro107fs)
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter) rs756487177
NM_018062.4(FANCL):c.378del (p.Val127fs)
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
NM_018062.4(FANCL):c.385_397del (p.Ala129fs) rs2105148069
NM_018062.4(FANCL):c.3G>A (p.Met1Ile) rs1694527909
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter) rs1689679880
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)
NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
NM_018062.4(FANCL):c.659del (p.Pro220fs)
NM_018062.4(FANCL):c.682del (p.Ile228fs)
NM_018062.4(FANCL):c.739_740dup (p.Met247fs) rs1685514075
NM_018062.4(FANCL):c.759_762del (p.Phe253fs) rs1553435610
NM_018062.4(FANCL):c.813_816del (p.His272fs) rs1558735946
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter) rs1423411761
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
NM_020937.4(FANCM):c.1015del (p.Asp339fs) rs1216266838
NM_020937.4(FANCM):c.1123C>T (p.Gln375Ter)
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter) rs765686151
NM_020937.4(FANCM):c.1165del (p.Ile389fs)
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter) rs1166587869
NM_020937.4(FANCM):c.1236_1237del (p.Leu412_Tyr413insTer) rs1467556424
NM_020937.4(FANCM):c.1286del (p.Asn429fs)
NM_020937.4(FANCM):c.1335T>G (p.Tyr445Ter) rs1270367757
NM_020937.4(FANCM):c.1363_1366delinsCAAAGTTAAAGAAA (p.Glu455_Val456delinsGlnSerTer)
NM_020937.4(FANCM):c.1432C>T (p.Arg478Ter) rs552052505
NM_020937.4(FANCM):c.1492C>T (p.Gln498Ter) rs2139186499
NM_020937.4(FANCM):c.1506_1507insTA (p.Ile503Ter)
NM_020937.4(FANCM):c.1508_1515del (p.Ile503fs)
NM_020937.4(FANCM):c.1560del (p.Phe520fs) rs2139186964
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter) rs1447482674
NM_020937.4(FANCM):c.1677_1678del (p.Ile559fs) rs1887822022
NM_020937.4(FANCM):c.1786_1787insTTAC (p.Arg596fs) rs1887832125
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter) rs778744393
NM_020937.4(FANCM):c.1827_1828dup (p.Lys610fs) rs1888023074
NM_020937.4(FANCM):c.1844del (p.Asn615fs) rs2139214355
NM_020937.4(FANCM):c.2034G>A (p.Trp678Ter)
NM_020937.4(FANCM):c.2040_2041del (p.Leu680fs) rs777996811
NM_020937.4(FANCM):c.2050G>T (p.Glu684Ter)
NM_020937.4(FANCM):c.2076T>A (p.Tyr692Ter)
NM_020937.4(FANCM):c.2108dup (p.Thr704fs)
NM_020937.4(FANCM):c.2138del (p.Leu713fs) rs1594792135
NM_020937.4(FANCM):c.2199_2202del (p.Ser734fs) rs762570903
NM_020937.4(FANCM):c.2201_2202del (p.Leu733_Ser734insTer)
NM_020937.4(FANCM):c.2255C>A (p.Ser752Ter)
NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter) rs1888447684
NM_020937.4(FANCM):c.2255del (p.His751_Ser752insTer)
NM_020937.4(FANCM):c.2260C>T (p.Arg754Ter)
NM_020937.4(FANCM):c.2336dup (p.Leu779fs) rs1404537579
NM_020937.4(FANCM):c.2359del (p.Met787fs)
NM_020937.4(FANCM):c.2503G>T (p.Glu835Ter)
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2589del (p.Asp864fs) rs768006618
NM_020937.4(FANCM):c.2590del (p.Asp864fs) rs1566762159
NM_020937.4(FANCM):c.2605_2606del (p.Glu869fs)
NM_020937.4(FANCM):c.2629dup (p.Ser877fs) rs1888605629
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer) rs2139244126
NM_020937.4(FANCM):c.2953del (p.Glu985fs)
NM_020937.4(FANCM):c.2982dup (p.Ser995fs)
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)
NM_020937.4(FANCM):c.3136C>T (p.Gln1046Ter)
NM_020937.4(FANCM):c.3190del (p.Ser1064fs) rs778191984
NM_020937.4(FANCM):c.3235_3238del (p.Leu1080fs)
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter) rs1555364837
NM_020937.4(FANCM):c.3442_3443del (p.Leu1149fs) rs1888681090
NM_020937.4(FANCM):c.3475_3476del (p.Leu1159fs) rs2139248770
NM_020937.4(FANCM):c.3523C>T (p.Gln1175Ter) rs2139249281
NM_020937.4(FANCM):c.3603del (p.Phe1201fs)
NM_020937.4(FANCM):c.3628C>T (p.Gln1210Ter) rs372276411
NM_020937.4(FANCM):c.3639dup (p.Val1214fs)
NM_020937.4(FANCM):c.3732_3735dup (p.Leu1246fs) rs1159078705
NM_020937.4(FANCM):c.3832C>T (p.Gln1278Ter) rs1888718087
NM_020937.4(FANCM):c.3844_3856del (p.Pro1282fs)
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter) rs751795256
NM_020937.4(FANCM):c.3950dup (p.Asn1317fs) rs2139252496
NM_020937.4(FANCM):c.3975T>G (p.Tyr1325Ter)
NM_020937.4(FANCM):c.3985del (p.Ser1329fs)
NM_020937.4(FANCM):c.4005del (p.Val1336fs) rs746983128
NM_020937.4(FANCM):c.4005dup (p.Val1336fs) rs746983128
NM_020937.4(FANCM):c.4054A>T (p.Lys1352Ter)
NM_020937.4(FANCM):c.4060_4064del (p.Arg1354fs)
NM_020937.4(FANCM):c.4101dup (p.Val1368fs) rs747974206
NM_020937.4(FANCM):c.4153G>T (p.Glu1385Ter) rs776133776
NM_020937.4(FANCM):c.4194T>G (p.Tyr1398Ter) rs1235515288
NM_020937.4(FANCM):c.4279_4283del (p.Val1427fs)
NM_020937.4(FANCM):c.4281_4287del (p.Lys1428fs)
NM_020937.4(FANCM):c.4285del (p.Arg1429fs) rs1227066484
NM_020937.4(FANCM):c.4294G>T (p.Gly1432Ter)
NM_020937.4(FANCM):c.4304_4305insSVAelement
NM_020937.4(FANCM):c.4456del (p.Val1486fs) rs1478392446
NM_020937.4(FANCM):c.4475_4485del (p.Arg1492fs)
NM_020937.4(FANCM):c.4477del (p.Arg1493fs) rs1889219103
NM_020937.4(FANCM):c.448C>T (p.Gln150Ter)
NM_020937.4(FANCM):c.4501C>T (p.Gln1501Ter)
NM_020937.4(FANCM):c.4504_4505del (p.His1503fs) rs1566775922
NM_020937.4(FANCM):c.4574_4575del (p.Tyr1525fs)
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter) rs1594810556
NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer) rs1594810654
NM_020937.4(FANCM):c.4637T>G (p.Leu1546Ter)
NM_020937.4(FANCM):c.466C>T (p.Gln156Ter) rs1885521004
NM_020937.4(FANCM):c.4779+1del rs764534989
NM_020937.4(FANCM):c.4930C>T (p.Arg1644Ter)
NM_020937.4(FANCM):c.5048_5052del (p.Lys1683fs) rs1566782962
NM_020937.4(FANCM):c.5097_5100del (p.Lys1699fs)
NM_020937.4(FANCM):c.516dup (p.Gln173fs) rs2139106255
NM_020937.4(FANCM):c.5199_5200del (p.Gln1733fs)
NM_020937.4(FANCM):c.5201del (p.Thr1734fs) rs2139297782
NM_020937.4(FANCM):c.5269C>T (p.Gln1757Ter)
NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)
NM_020937.4(FANCM):c.5315_5316del (p.Asp1771_Cys1772insTer) rs1566783809
NM_020937.4(FANCM):c.5364_5367dup (p.Thr1790Ter) rs1324635932
NM_020937.4(FANCM):c.5380del (p.Ser1794fs) rs1890046687
NM_020937.4(FANCM):c.538del (p.Ile180fs) rs2139106358
NM_020937.4(FANCM):c.5446A>T (p.Lys1816Ter) rs1594481199
NM_020937.4(FANCM):c.5476G>T (p.Glu1826Ter) rs1354153410
NM_020937.4(FANCM):c.547_548delinsCTTA (p.Ser183fs)
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs) rs1566790465
NM_020937.4(FANCM):c.5530C>T (p.Gln1844Ter)
NM_020937.4(FANCM):c.567_568insGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGCAGACGGGAGAGGGAGAGGGAGACGGGAGCTTTTTTTGAGAGTGCTTTTTCTT (p.Thr190fs)
NM_020937.4(FANCM):c.5687_5688dup (p.Ile1897Ter)
NM_020937.4(FANCM):c.5707_5708del (p.Glu1903fs)
NM_020937.4(FANCM):c.5749_5750del (p.Ser1917fs) rs1203346034
NM_020937.4(FANCM):c.5766_5769del (p.Thr1923fs)
NM_020937.4(FANCM):c.5815G>T (p.Glu1939Ter)
NM_020937.4(FANCM):c.708_714del (p.Asn237fs) rs1885850135
NM_020937.4(FANCM):c.710del (p.Asn237fs) rs1340295590
NM_020937.4(FANCM):c.81del (p.Gly28fs) rs2139099848
NM_020937.4(FANCM):c.855del (p.Val286fs) rs2139151883
NM_020937.4(FANCM):c.865_881del (p.Lys288_Leu289insTer)
NM_020937.4(FANCM):c.901C>T (p.Gln301Ter)
NM_020937.4(FANCM):c.909_910del (p.Ile305fs) rs1886630094
NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA rs1767491456
NM_021922.3(FANCE):c.112G>T (p.Glu38Ter)
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs) rs2150896309
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)
NM_021922.3(FANCE):c.1363del (p.Gln455fs) rs1767552099
NM_021922.3(FANCE):c.164G>A (p.Trp55Ter) rs2150885915
NM_021922.3(FANCE):c.209del (p.Glu70fs)
NM_021922.3(FANCE):c.334del (p.Ser112fs) rs1479445348
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.4_13del (p.Ala2fs)
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.614_615del (p.Glu205fs)
NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter) rs1767152512
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.931dup (p.Val311fs)
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter) rs1767417868
NM_022725.4(FANCF):c.123dup (p.Arg42fs) rs1858636931
NM_022725.4(FANCF):c.133_136del (p.His45fs)
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.236del (p.Gly79fs)
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.2T>C (p.Met1Thr) rs745495865
NM_022725.4(FANCF):c.326dup (p.Tyr109Ter) rs2133798073
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
NM_022725.4(FANCF):c.3G>A (p.Met1Ile) rs2133798927
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)
NM_022725.4(FANCF):c.538del (p.Ala180fs)
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) rs1479457172
NM_022725.4(FANCF):c.63del (p.Tyr22fs)
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_022725.4(FANCF):c.88dup (p.Thr30fs)
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs) rs1555580957
NM_032043.2(BRIP1):c.630_637delCCCTGGCC rs1603347058
NM_032043.3(BRIP1):c.-31+498_187del
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.3(BRIP1):c.1052_1055dup (p.Tyr353fs) rs1603343235
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter) rs2145335621
NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter) rs769081927
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs) rs2145334953
NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter) rs2145334576
NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter) rs1489355776
NM_032043.3(BRIP1):c.1109_1110dup (p.Tyr371fs) rs1567831477
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs) rs587783377
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter) rs1028347439
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.112dup (p.Ser38fs) rs2078951497
NM_032043.3(BRIP1):c.1138del (p.Ser380fs) rs2077985927
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer) rs1603342339
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter) rs730881635
NM_032043.3(BRIP1):c.1158del (p.Glu387fs) rs2145309797
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter) rs1304655615
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)
NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)
NM_032043.3(BRIP1):c.1191_1197dup (p.Asp400fs) rs2145307730
NM_032043.3(BRIP1):c.1196_1197del (p.Glu399fs) rs2077951770
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs) rs730881647
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs) rs1603342258
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.1240_1244dup (p.Arg416fs) rs2077949826
NM_032043.3(BRIP1):c.1256_1278dup (p.Asn427delinsGlyMetAsnTer) rs2077948208
NM_032043.3(BRIP1):c.1270_1271del (p.Ser424fs) rs2145303552
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
NM_032043.3(BRIP1):c.1289_1290dup (p.Arg431Ter) rs2145302423
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
NM_032043.3(BRIP1):c.1291del (p.Arg431fs)
NM_032043.3(BRIP1):c.1293del (p.Lys432fs)
NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter) rs1555607070
NM_032043.3(BRIP1):c.1299_1302del (p.Lys433fs) rs2077947183
NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter) rs2145300052
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs) rs2145243883
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs) rs2145243385
NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter) rs2145242325
NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.3(BRIP1):c.1417del (p.Met473fs) rs2145241576
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)
NM_032043.3(BRIP1):c.1442_1443dup (p.Ile482fs) rs2077853451
NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)
NM_032043.3(BRIP1):c.1457del (p.Thr486fs) rs2145239498
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs) rs2145239459
NM_032043.3(BRIP1):c.1462_1465del (p.Pro488fs) rs1603340281
NM_032043.3(BRIP1):c.1469del (p.Leu490fs)
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs) rs1555603622
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs) rs747214372
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter) rs1555618738
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
NM_032043.3(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter) rs1603336980
NM_032043.3(BRIP1):c.1537del (p.Ala513fs) rs1567816997
NM_032043.3(BRIP1):c.1543del (p.Glu515fs) rs1064793812
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
NM_032043.3(BRIP1):c.1584del (p.Gly529fs)
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter) rs2078973424
NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs) rs2145135739
NM_032043.3(BRIP1):c.1608del (p.Leu537fs) rs2145135618
NM_032043.3(BRIP1):c.1614del (p.Phe538fs) rs2077667669
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter) rs1603336897
NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter) rs2078949879
NM_032043.3(BRIP1):c.1622del (p.Asn541fs) rs1603336895
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs) rs1555602638
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter) rs777217004
NM_032043.3(BRIP1):c.1661del (p.Gln554fs) rs749762964
NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs) rs2077611091
NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)
NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter) rs2145095898
NM_032043.3(BRIP1):c.1683_1684del (p.Gln561fs) rs2077610620
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs) rs1603367673
NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter) rs1603334619
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer) rs878855140
NM_032043.3(BRIP1):c.1697del (p.Asp566fs) rs2077609777
NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter) rs2145094630
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.1707del (p.Leu570fs) rs2077609211
NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter) rs2077609103
NM_032043.3(BRIP1):c.1727del (p.Asn576fs)
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter) rs1356014648
NM_032043.3(BRIP1):c.1770del (p.Trp592fs) rs2145091141
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter) rs753023295
NM_032043.3(BRIP1):c.1791del (p.Val598fs) rs1567813223
NM_032043.3(BRIP1):c.1801del (p.Ser601fs) rs2145081748
NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs) rs2145850255
NM_032043.3(BRIP1):c.1831del (p.Val611fs) rs1567812616
NM_032043.3(BRIP1):c.1850del (p.Leu617fs)
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs) rs763818712
NM_032043.3(BRIP1):c.1889del (p.Thr630fs) rs1064793626
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter) rs1603367649
NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter) rs1603367647
NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter) rs2145849937
NM_032043.3(BRIP1):c.1918_1919del (p.Ile640fs) rs1555602127
NM_032043.3(BRIP1):c.1935+1del rs2077594062
NM_032043.3(BRIP1):c.1936del rs1567809140
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.3(BRIP1):c.1948_1957del (p.Thr650fs) rs2077537479
NM_032043.3(BRIP1):c.1959_1960dup (p.Gly654fs) rs2145033356
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs) rs2077537050
NM_032043.3(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.3(BRIP1):c.1974dup (p.Asn659fs) rs2145032405
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter) rs1603328780
NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter) rs2145031089
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs) rs1555618374
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.3(BRIP1):c.2012_2013insAAAT (p.Phe672fs) rs2145030551
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs) rs2145029870
NM_032043.3(BRIP1):c.2030del (p.Gly677fs) rs1555601064
NM_032043.3(BRIP1):c.2038_2039del (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.2053del (p.Gln685fs) rs2145028011
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
NM_032043.3(BRIP1):c.2059del (p.Thr686_Val687insTer) rs2145027657
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs) rs1060501772
NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter) rs1603328406
NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)
NM_032043.3(BRIP1):c.2103del (p.Glu702fs) rs2144701568
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.3(BRIP1):c.2109del (p.Lys703fs) rs2144701307
NM_032043.3(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2120del (p.Arg707fs)
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
NM_032043.3(BRIP1):c.2133del (p.Gly712fs) rs1567781543
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter) rs878855145
NM_032043.3(BRIP1):c.2156del (p.Leu719fs)
NM_032043.3(BRIP1):c.2169del (p.Ile724fs)
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter) rs1296238058
NM_032043.3(BRIP1):c.2187del (p.Gly730fs)
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2197del (p.Thr733fs) rs2144697372
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter) rs1555591385
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter) rs1555591361
NM_032043.3(BRIP1):c.2218del (p.Gln740fs) rs1555591365
NM_032043.3(BRIP1):c.2221dup (p.Val741fs) rs1567781169
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter) rs1310861578
NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter) rs2144696024
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter) rs2077030288
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs) rs587782726
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.2247del (p.Gly750fs)
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs) rs1555591308
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2258-1G>T rs1064793887
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs) rs2144678308
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs) rs758128094
NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)
NM_032043.3(BRIP1):c.237del (p.Ala80fs) rs2145830843
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter) rs2144384208
NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter) rs2061855838
NM_032043.3(BRIP1):c.241del (p.Glu81fs) rs1292988272
NM_032043.3(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
NM_032043.3(BRIP1):c.2445_2446insGTCTTCTACC (p.Trp816fs) rs2144381014
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter) rs786204250
NM_032043.3(BRIP1):c.2459_2460insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTCA (p.Ala821fs) rs2144380398
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.3(BRIP1):c.2491del (p.Arg831fs) rs1555580769
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs) rs2061478781
NM_032043.3(BRIP1):c.2510del (p.Asn837fs) rs2144187480
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.3(BRIP1):c.2519_2520insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCANNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGATTGGGG (p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly)
NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter) rs2145830278
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs) rs1555574788
NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter) rs587781830
NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter) rs370175724
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs) rs1567732136
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs) rs1603277005
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter) rs1060501766
NM_032043.3(BRIP1):c.2606del (p.Gln869fs)
NM_032043.3(BRIP1):c.2640del (p.Leu881fs) rs1567731917
NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)
NM_032043.3(BRIP1):c.2670del (p.Val891fs) rs2144115743
NM_032043.3(BRIP1):c.2683del (p.Ser895fs)
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2690del (p.Lys897fs) rs2061358219
NM_032043.3(BRIP1):c.2692del (p.Asp898fs)
NM_032043.3(BRIP1):c.26del (p.Thr9fs) rs2145865744
NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter) rs759080195
NM_032043.3(BRIP1):c.2729_2730del (p.Glu910fs) rs2144113535
NM_032043.3(BRIP1):c.2733del (p.Thr912fs)
NM_032043.3(BRIP1):c.2737del (p.Ser913fs) rs1555573386
NM_032043.3(BRIP1):c.2741del (p.Ser913_Leu914insTer) rs2144113001
NM_032043.3(BRIP1):c.2742_2749del (p.Lys915fs) rs2144112699
NM_032043.3(BRIP1):c.2756dup (p.Pro920fs) rs1603276728
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2786_2789dup (p.Pro931fs) rs1295703239
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
NM_032043.3(BRIP1):c.2792del (p.Pro931fs) rs1555573327
NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter) rs199643061
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter) rs863224802
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter) rs2061353270
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs) rs763009188
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer) rs2145828926
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2962del (p.Ser988fs) rs2061324917
NM_032043.3(BRIP1):c.2979_2980insTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT (p.Phe993_Asn994insPhePhePhePhePhePhePhePheXaaXaaXaaXaaTyrGluLeuIleIlePheTyrGlyCysIleValPheHisGlyValTyrValProHisPheLeu)
NM_032043.3(BRIP1):c.297_298del (p.Met100fs)
NM_032043.3(BRIP1):c.2982del (p.Asn994fs)
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs) rs771028677
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)
NM_032043.3(BRIP1):c.308del (p.Gly103fs) rs1555617834
NM_032043.3(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)
NM_032043.3(BRIP1):c.321_337del (p.Phe108fs) rs1603366250
NM_032043.3(BRIP1):c.355_362dup (p.Ser122fs) rs2145826463
NM_032043.3(BRIP1):c.356del (p.Asn119fs) rs2145826750
NM_032043.3(BRIP1):c.358_361dup (p.Thr121fs) rs1567874485
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer) rs876660080
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs) rs1057520058
NM_032043.3(BRIP1):c.440del (p.Tyr147fs) rs1555616176
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter) rs1603362622
NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter) rs1603362622
NM_032043.3(BRIP1):c.441_442del (p.Tyr147_Arg148delinsTer) rs2078779429
NM_032043.3(BRIP1):c.443_446del (p.Arg148fs) rs2145763904
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter) rs762701532
NM_032043.3(BRIP1):c.452del (p.Asn151fs)
NM_032043.3(BRIP1):c.461_462del (p.Phe154fs) rs1567868477
NM_032043.3(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)
NM_032043.3(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.3(BRIP1):c.474del (p.Arg160fs) rs1603362580
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.478del (p.Arg160fs) rs1555616150
NM_032043.3(BRIP1):c.502del (p.Gln168fs)
NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)
NM_032043.3(BRIP1):c.505_506insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAACTACACAGC (p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer) rs2145761401
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.508-2A>G rs876659707
NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter) rs1060501765
NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)
NM_032043.3(BRIP1):c.532del (p.Thr178fs)
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
NM_032043.3(BRIP1):c.548del (p.Leu183fs) rs1060501778
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter) rs1555615763
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)
NM_032043.3(BRIP1):c.604del (p.Lys201_Ile202insTer) rs1603361577
NM_032043.3(BRIP1):c.608del (p.Asn203fs) rs1603361570
NM_032043.3(BRIP1):c.632del (p.Pro211fs) rs1060501779
NM_032043.3(BRIP1):c.637del (p.His213fs)
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer) rs2078117088
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter) rs1603346983
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter) rs786201733
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter) rs1603368431
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)
NM_032043.3(BRIP1):c.688del (p.Ser230fs)
NM_032043.3(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.3(BRIP1):c.71dup (p.Gln25fs) rs2145864140
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter) rs1603346857
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter) rs2078971612
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs) rs2078112240
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs) rs2078112057
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter) rs1555609257
NM_032043.3(BRIP1):c.777dup (p.Thr260fs) rs1555609254
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
NM_032043.3(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.3(BRIP1):c.7_11del (p.Ser3fs) rs1603368490
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
NM_032043.3(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.3(BRIP1):c.844dup (p.Thr282fs) rs2145414039
NM_032043.3(BRIP1):c.866del (p.Val289fs) rs864622166
NM_032043.3(BRIP1):c.876del (p.Phe292fs) rs1555609162
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs) rs878855159
NM_032043.3(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.917dup (p.Asn306fs) rs1555609121
NM_032043.3(BRIP1):c.918del (p.Asn306fs) rs1555609116
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs) rs1555607792
NM_032043.3(BRIP1):c.932del (p.Tyr311fs) rs587778138
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter) rs1436085018
NM_032043.3(BRIP1):c.94-7_178dup rs1555618396
NM_032043.3(BRIP1):c.958del (p.Ser320fs) rs864622236
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter) rs587778139
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
NM_032043.3(BRIP1):c.96del (p.Leu33fs) rs1603367753
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs) rs2145339188
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter) rs2077991700
NM_032043.3(BRIP1):c.985del (p.Gln329fs)
NM_032444.4(SLX4):c.1029del (p.Thr345fs)
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
NM_032444.4(SLX4):c.1093del (p.Gln365fs) rs1218169126
NM_032444.4(SLX4):c.1129C>T (p.Gln377Ter) rs1171341642
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.1255G>T (p.Glu419Ter)
NM_032444.4(SLX4):c.1406dup (p.Leu470fs)
NM_032444.4(SLX4):c.1533del (p.Trp513fs)
NM_032444.4(SLX4):c.1540G>T (p.Glu514Ter)
NM_032444.4(SLX4):c.1552C>T (p.Gln518Ter)
NM_032444.4(SLX4):c.1731dup (p.Glu578fs)
NM_032444.4(SLX4):c.1816C>T (p.Gln606Ter)
NM_032444.4(SLX4):c.1868del (p.Leu623fs)
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs) rs1266198754
NM_032444.4(SLX4):c.1912G>T (p.Glu638Ter)
NM_032444.4(SLX4):c.1957_1960del (p.Thr653fs)
NM_032444.4(SLX4):c.2039_2105dup (p.Leu703_Tyr704insTrpArgHisGlyGlnTerLeu)
NM_032444.4(SLX4):c.2384C>G (p.Ser795Ter) rs2151126006
NM_032444.4(SLX4):c.2449del (p.Glu817fs) rs1567170994
NM_032444.4(SLX4):c.2565T>A (p.Tyr855Ter)
NM_032444.4(SLX4):c.2594_2595del (p.Leu865fs)
NM_032444.4(SLX4):c.2635_2636insA (p.Trp879Ter) rs2151125489
NM_032444.4(SLX4):c.2793_2805del (p.Gln934fs)
NM_032444.4(SLX4):c.2800del (p.Gln934fs)
NM_032444.4(SLX4):c.2974_2977del (p.Gly992fs) rs2151124655
NM_032444.4(SLX4):c.307del (p.Leu103fs)
NM_032444.4(SLX4):c.3144_3148del (p.His1050fs)
NM_032444.4(SLX4):c.3239C>G (p.Ser1080Ter) rs2151123968
NM_032444.4(SLX4):c.3282del (p.Glu1094fs) rs2151123906
NM_032444.4(SLX4):c.3529G>T (p.Glu1177Ter)
NM_032444.4(SLX4):c.3619_3643del (p.Pro1207fs) rs1440022090
NM_032444.4(SLX4):c.3646C>T (p.Gln1216Ter)
NM_032444.4(SLX4):c.3724G>T (p.Glu1242Ter) rs770687847
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs) rs878855162
NM_032444.4(SLX4):c.3731del (p.Ser1244fs)
NM_032444.4(SLX4):c.383G>A (p.Trp128Ter) rs1193906930
NM_032444.4(SLX4):c.3906del (p.Asn1302fs)
NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter) rs2040557100
NM_032444.4(SLX4):c.3955C>T (p.Gln1319Ter) rs2040556390
NM_032444.4(SLX4):c.3961_3962dup (p.Ser1322fs)
NM_032444.4(SLX4):c.3983_4115del (p.Val1328fs) rs2151122078
NM_032444.4(SLX4):c.39C>G (p.Tyr13Ter)
NM_032444.4(SLX4):c.4024del (p.Ser1342fs)
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter) rs1596520443
NM_032444.4(SLX4):c.4133del (p.Pro1378fs) rs1174332682
NM_032444.4(SLX4):c.4156C>T (p.Gln1386Ter) rs1374549534
NM_032444.4(SLX4):c.4258_4259dup (p.Ile1421fs) rs781663547
NM_032444.4(SLX4):c.4259dup (p.Ile1421fs) rs781663547
NM_032444.4(SLX4):c.4283G>A (p.Trp1428Ter) rs1028935047
NM_032444.4(SLX4):c.4291G>T (p.Glu1431Ter)
NM_032444.4(SLX4):c.4336_4340del (p.Thr1446fs)
NM_032444.4(SLX4):c.4381_4391del (p.Ala1461fs) rs751653739
NM_032444.4(SLX4):c.4435C>T (p.Arg1479Ter)
NM_032444.4(SLX4):c.4523C>A (p.Ser1508Ter)
NM_032444.4(SLX4):c.4549G>T (p.Glu1517Ter)
NM_032444.4(SLX4):c.4668del (p.Val1558fs)
NM_032444.4(SLX4):c.4668dup (p.Lys1557fs)
NM_032444.4(SLX4):c.4693dup (p.Gln1565fs)
NM_032444.4(SLX4):c.4764del (p.Lys1588fs) rs1567166655
NM_032444.4(SLX4):c.4798C>T (p.Gln1600Ter) rs143026968
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter) rs200628199
NM_032444.4(SLX4):c.4837G>T (p.Glu1613Ter) rs761469284
NM_032444.4(SLX4):c.4850C>G (p.Ser1617Ter)
NM_032444.4(SLX4):c.4862del (p.Leu1621fs) rs1567166544
NM_032444.4(SLX4):c.4921dup (p.Val1641fs) rs770425994
NM_032444.4(SLX4):c.5055_5058dup (p.Pro1687fs) rs2151116570
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_032444.4(SLX4):c.559C>T (p.Gln187Ter) rs2040788600
NM_032444.4(SLX4):c.59del (p.Leu20fs) rs1315905872
NM_032444.4(SLX4):c.619_623dup (p.Leu208fs)
NM_032444.4(SLX4):c.86_89del (p.Arg29fs) rs2151139911
NM_033022.4(RPS24):c.13_14del (p.Val5fs) rs1589326484
NM_033022.4(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033084.4(FANCD2):c.-33-?_1098+?del
NM_033084.6(FANCD2):c.2609_2613del
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
NM_058216.1(RAD51C):c.(?_-1)_837+?del
NM_058216.1(RAD51C):c.572-?_(*1_?)del
NM_058216.1(RAD51C):c.966-?_1026+?del
NM_058216.2(RAD51C):c.572-?_*120del
NM_058216.2(RAD51C):c.572-?_705+?del
NM_058216.2(RAD51C):c.706-?_*120del
NM_058216.3(RAD51C):c.109del (p.Glu37fs)
NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) rs1598449660
NM_058216.3(RAD51C):c.145+1G>A rs757128712
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
NM_058216.3(RAD51C):c.158del (p.Ser53fs) rs587782533
NM_058216.3(RAD51C):c.160A>T (p.Lys54Ter) rs2047940709
NM_058216.3(RAD51C):c.168del (p.Ala57fs) rs2143717943
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter) rs1567785872
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter) rs1567785888
NM_058216.3(RAD51C):c.209_210del (p.Thr70fs)
NM_058216.3(RAD51C):c.216_220del (p.Pro73fs) rs786202563
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs) rs1598455598
NM_058216.3(RAD51C):c.225T>G (p.Tyr75Ter) rs1555593553
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs) rs2143721294
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.274G>T (p.Glu92Ter) rs765304898
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter) rs1555593670
NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter) rs1555593715
NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs) rs2047953067
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter) rs1567782755
NM_058216.3(RAD51C):c.338del (p.Gly113fs)
NM_058216.3(RAD51C):c.353_356del (p.Met118fs)
NM_058216.3(RAD51C):c.358dup (p.Thr120fs) rs2143725868
NM_058216.3(RAD51C):c.363_370del (p.Glu122fs)
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) rs2047958236
NM_058216.3(RAD51C):c.37_38insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATGCAGCGGG (p.Asp13fs)
NM_058216.3(RAD51C):c.394del (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.401T>G (p.Leu134Ter) rs1233795152
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter) rs2048021234
NM_058216.3(RAD51C):c.444del (p.Phe148fs) rs1555594617
NM_058216.3(RAD51C):c.444dup (p.Gly149fs) rs1555594617
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs) rs1598460178
NM_058216.3(RAD51C):c.472dup (p.Ile158fs) rs2143746162
NM_058216.3(RAD51C):c.478del (p.Thr160fs)
NM_058216.3(RAD51C):c.484G>T (p.Gly162Ter)
NM_058216.3(RAD51C):c.485del (p.Gly162fs) rs2143746632
NM_058216.3(RAD51C):c.491_492del (p.Phe164fs) rs2143746939
NM_058216.3(RAD51C):c.496del (p.Val166fs) rs2143747219
NM_058216.3(RAD51C):c.498del (p.Asp167fs) rs746993675
NM_058216.3(RAD51C):c.501_502dup (p.Arg168fs) rs587782699
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.502dup (p.Arg168fs) rs2143747561
NM_058216.3(RAD51C):c.508del (p.Val169_Val170insTer)
NM_058216.3(RAD51C):c.50del (p.Phe17fs) rs1555591851
NM_058216.3(RAD51C):c.519dup (p.Thr174fs) rs1598460710
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs) rs1598448896
NM_058216.3(RAD51C):c.535del (p.His179fs) rs1555594864
NM_058216.3(RAD51C):c.53del (p.Pro18fs)
NM_058216.3(RAD51C):c.54del (p.Leu19fs)
NM_058216.3(RAD51C):c.556A>T (p.Lys186Ter) rs1363104728
NM_058216.3(RAD51C):c.561_562del (p.His187fs) rs1057517812
NM_058216.3(RAD51C):c.562_563del (p.Lys188fs) rs2143749861
NM_058216.3(RAD51C):c.562_565del (p.Lys188fs) rs1555594912
NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter) rs1330937621
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter) rs1555597094
NM_058216.3(RAD51C):c.597_603del (p.Phe199fs) rs2048269550
NM_058216.3(RAD51C):c.612del (p.Leu205fs) rs2143797889
NM_058216.3(RAD51C):c.615_618del (p.Ser206fs)
NM_058216.3(RAD51C):c.622_623del (p.Ile208fs) rs876659497
NM_058216.3(RAD51C):c.627T>G (p.Tyr209Ter)
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.650_651del (p.Thr217fs) rs2048272509
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_058216.3(RAD51C):c.656T>A (p.Leu219Ter) rs201529791
NM_058216.3(RAD51C):c.675del (p.Leu226fs) rs2048274544
NM_058216.3(RAD51C):c.688del (p.Leu230fs) rs2143801496
NM_058216.3(RAD51C):c.68_72dup (p.Val25fs) rs2047807048
NM_058216.3(RAD51C):c.692del (p.Leu230_Ser231insTer) rs2143801795
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.704del (p.Lys235fs) rs1567794476
NM_058216.3(RAD51C):c.704dup (p.Val236fs) rs1567794476
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.706-1G>A rs1555599090
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.72_73insAT (p.Val25fs) rs775482687
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.738del (p.Pro247fs)
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs) rs1567782936
NM_058216.3(RAD51C):c.75dup (p.Lys26fs)
NM_058216.3(RAD51C):c.784_787dup (p.Asn263fs)
NM_058216.3(RAD51C):c.785T>A (p.Leu262Ter)
NM_058216.3(RAD51C):c.785_786insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCGTACTCGGTTATT (p.Leu262delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProPheTer) rs2143852568
NM_058216.3(RAD51C):c.795del (p.Ala266fs) rs2143853617
NM_058216.3(RAD51C):c.799C>T (p.Gln267Ter)
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter) rs1567799818
NM_058216.3(RAD51C):c.82dup (p.Val28fs) rs2143677258
NM_058216.3(RAD51C):c.837+1G>C rs760235677
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.837+4_837+7del rs727503760
NM_058216.3(RAD51C):c.837+5G>A
NM_058216.3(RAD51C):c.83dup (p.Ser29fs)
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) rs1060502605
NM_058216.3(RAD51C):c.860del (p.Thr287fs) rs2143930383
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.905-1G>A rs2143961181
NM_058216.3(RAD51C):c.905-2A>G rs779582317
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter) rs2143961266
NM_058216.3(RAD51C):c.910del (p.Ser304fs) rs1555603011
NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter) rs2143961567
NM_058216.3(RAD51C):c.917del (p.Gly306fs) rs2143961536
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_058216.3(RAD51C):c.961C>T (p.Gln321Ter) rs2143963184
NM_058216.3(RAD51C):c.965+1G>A rs730881933
NM_058216.3(RAD51C):c.965+5G>A rs774586107
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs) rs587780840
NM_058216.3(RAD51C):c.981C>A (p.Tyr327Ter) rs2144044910
NM_058216.3(RAD51C):c.981C>G (p.Tyr327Ter)
Single allele

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