ClinVar Miner

List of variants studied for Fanconi anemia complementation group I

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ClinVar version:
Total variants: 437
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3643+257T>G rs1061316 0.48343
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_001113378.2(FANCI):c.545+30G>A rs1981624 0.37206
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_001113378.2(FANCI):c.1294-8C>T rs16942931 0.03299
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969 0.03295
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798 0.01679
NM_001113378.2(FANCI):c.868G>A (p.Val290Met) rs113772230 0.01634
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339 0.01219
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys) rs28378332 0.00462
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) rs34462132 0.00456
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=) rs11556721 0.00322
NM_002693.3(POLG):c.3644-72C>A rs1801377 0.00312
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_002693.3(POLG):c.3644-184T>C rs115758754 0.00173
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_001113378.2(FANCI):c.753C>T (p.Asp251=) rs151169233 0.00124
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=) rs145349375 0.00083
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_002693.3(POLG):c.*63A>G rs552236933 0.00061
NM_001113378.1(FANCI):c.-90T>C rs559714713 0.00056
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_001113378.2(FANCI):c.3499T>G (p.Cys1167Gly) rs61744917 0.00051
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_001113378.2(FANCI):c.2291+12C>G rs369540539 0.00034
NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr) rs139181400 0.00031
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala) rs149223439 0.00028
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_001113378.2(FANCI):c.1822-18C>T rs373603139 0.00026
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656 0.00024
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met) rs191202700 0.00022
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714 0.00020
NM_001113378.2(FANCI):c.1699-3C>G rs372441627 0.00020
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg) rs146040966 0.00019
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile) rs199726965 0.00019
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro) rs554876309 0.00019
NM_001113378.2(FANCI):c.3419C>T (p.Thr1140Ile) rs142969866 0.00019
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) rs112387610 0.00019
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met) rs374363189 0.00016
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=) rs150231327 0.00016
NM_001113378.2(FANCI):c.2543A>G (p.Gln848Arg) rs555904350 0.00016
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_001113378.2(FANCI):c.-10A>G rs372076895 0.00014
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=) rs147934193 0.00013
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=) rs199627578 0.00012
NM_001113378.2(FANCI):c.3473G>T (p.Cys1158Phe) rs199502679 0.00012
NM_001113378.2(FANCI):c.3868A>G (p.Lys1290Glu) rs374908061 0.00012
NM_002693.3(POLG):c.*100G>A rs770839560 0.00012
NM_002693.3(POLG):c.3644-16T>C rs536522307 0.00012
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616 0.00011
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00011
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val) rs141879625 0.00010
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) rs112932178 0.00010
NM_001113378.2(FANCI):c.165C>T (p.Pro55=) rs139039885 0.00009
NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile) rs140965103 0.00009
NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys) rs144419129 0.00009
NM_001113378.2(FANCI):c.3466G>C (p.Gly1156Arg) rs200026076 0.00009
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_002693.3(POLG):c.*122G>A rs886051517 0.00009
NM_002693.3(POLG):c.*44G>C rs563185483 0.00009
NM_001113378.2(FANCI):c.669+14A>G rs369804967 0.00008
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) rs139072231 0.00007
NM_001113378.2(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619 0.00007
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly) rs149008055 0.00006
NM_001113378.2(FANCI):c.1250A>G (p.His417Arg) rs377227097 0.00006
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys) rs1414995711 0.00006
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) rs377308647 0.00006
NM_001113378.2(FANCI):c.2292-11G>C rs763570868 0.00006
NM_001113378.2(FANCI):c.2434A>G (p.Ser812Gly) rs768500794 0.00006
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) rs933284199 0.00006
NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln) rs142322239 0.00006
NM_001113378.2(FANCI):c.288+10C>T rs370505986 0.00006
NM_001113378.2(FANCI):c.2890-19G>A rs758850736 0.00006
NM_001113378.2(FANCI):c.3255T>G (p.Cys1085Trp) rs755403672 0.00006
NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn) rs779604966 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln) rs750792237 0.00006
NM_001113378.2(FANCI):c.1113-10G>C rs756650711 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp) rs371568506 0.00005
NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser) rs573652425 0.00005
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=) rs762453164 0.00005
NM_001113378.2(FANCI):c.3007-7A>G rs778906473 0.00005
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) rs544848412 0.00005
NM_001113378.2(FANCI):c.534C>T (p.Thr178=) rs754733731 0.00005
NM_001113378.2(FANCI):c.-56T>C rs374177639 0.00004
NM_001113378.2(FANCI):c.1512+3A>G rs760846523 0.00004
NM_001113378.2(FANCI):c.157+7A>G rs145165730 0.00004
NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr) rs147963936 0.00004
NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser) rs866290050 0.00004
NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn) rs374176569 0.00004
NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343 0.00004
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) rs752114490 0.00004
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) rs139857614 0.00004
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=) rs145665176 0.00004
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=) rs368915464 0.00004
NM_001113378.2(FANCI):c.2960C>T (p.Thr987Met) rs138432305 0.00004
NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser) rs182154506 0.00004
NM_001113378.2(FANCI):c.3056G>A (p.Arg1019Gln) rs772401747 0.00004
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=) rs185771112 0.00004
NM_001113378.2(FANCI):c.3721-15G>A rs552581027 0.00004
NM_001113378.2(FANCI):c.3832C>T (p.His1278Tyr) rs776134519 0.00004
NM_001113378.2(FANCI):c.993G>A (p.Lys331=) rs146916445 0.00004
NM_001113378.2(FANCI):c.1102G>A (p.Val368Met) rs1060501897 0.00003
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) rs201002833 0.00003
NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly) rs200007225 0.00003
NM_001113378.2(FANCI):c.1537A>G (p.Met513Val) rs148780626 0.00003
NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp) rs779310267 0.00003
NM_001113378.2(FANCI):c.1890+3A>G rs886051510 0.00003
NM_001113378.2(FANCI):c.1891-2A>G rs776329920 0.00003
NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys) rs143105092 0.00003
NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile) rs781175970 0.00003
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) rs768234660 0.00003
NM_001113378.2(FANCI):c.2519G>A (p.Arg840His) rs777483611 0.00003
NM_001113378.2(FANCI):c.2627A>G (p.Asp876Gly) rs545673916 0.00003
NM_001113378.2(FANCI):c.3116A>G (p.Tyr1039Cys) rs138702591 0.00003
NM_001113378.2(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069 0.00003
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=) rs964069381 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001113378.2(FANCI):c.3812C>T (p.Ser1271Phe) rs202066338 0.00003
NM_001113378.2(FANCI):c.601A>G (p.Met201Val) rs774564150 0.00003
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175 0.00003
NM_002693.3(POLG):c.3644-116T>C rs777372106 0.00003
NM_001113378.2(FANCI):c.1112+8G>C rs761741904 0.00002
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=) rs201871288 0.00002
NM_001113378.2(FANCI):c.1513-16A>C rs768296894 0.00002
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly) rs1262508273 0.00002
NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser) rs369268726 0.00002
NM_001113378.2(FANCI):c.1801G>A (p.Val601Ile) rs200007022 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys) rs749295501 0.00002
NM_001113378.2(FANCI):c.1890+10A>G rs201954421 0.00002
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=) rs750462548 0.00002
NM_001113378.2(FANCI):c.197G>A (p.Arg66His) rs779515039 0.00002
NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile) rs201796281 0.00002
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) rs752028405 0.00002
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824 0.00002
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp) rs562503186 0.00002
NM_001113378.2(FANCI):c.3162C>T (p.His1054=) rs746204528 0.00002
NM_001113378.2(FANCI):c.3309C>G (p.Ile1103Met) rs922792253 0.00002
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs) rs773847168 0.00002
NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys) rs751222800 0.00002
NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe) rs1435589915 0.00002
NM_001113378.2(FANCI):c.875A>G (p.His292Arg) rs764641724 0.00002
NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) rs769485443 0.00002
NM_001113378.2(FANCI):c.976-5T>C rs775680372 0.00002
NM_001113378.2(FANCI):c.-23G>A rs886051506 0.00001
NM_001113378.2(FANCI):c.-72C>G rs886051505 0.00001
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=) rs72762644 0.00001
NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser) rs565007212 0.00001
NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala) rs1012254525 0.00001
NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile) rs1390853875 0.00001
NM_001113378.2(FANCI):c.13A>G (p.Ile5Val) rs200186938 0.00001
NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe) rs762294213 0.00001
NM_001113378.2(FANCI):c.157+78G>A rs963339667 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.1698+6G>T rs762886638 0.00001
NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln) rs201641791 0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001113378.2(FANCI):c.1A>G (p.Met1Val) rs781249928 0.00001
NM_001113378.2(FANCI):c.2169+12G>A rs886051512 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile) rs757610698 0.00001
NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr) rs911033971 0.00001
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451 0.00001
NM_001113378.2(FANCI):c.2350A>C (p.Ile784Leu) rs1421332670 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.2544G>C (p.Gln848His) rs777269384 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu) rs199758631 0.00001
NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr) rs770499988 0.00001
NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419 0.00001
NM_001113378.2(FANCI):c.2684C>T (p.Ser895Leu) rs762647324 0.00001
NM_001113378.2(FANCI):c.2687G>C (p.Gly896Ala) rs751233975 0.00001
NM_001113378.2(FANCI):c.2753C>T (p.Ala918Val) rs748546731 0.00001
NM_001113378.2(FANCI):c.2845G>A (p.Val949Ile) rs767462150 0.00001
NM_001113378.2(FANCI):c.2879G>A (p.Arg960Gln) rs151267266 0.00001
NM_001113378.2(FANCI):c.292C>T (p.His98Tyr) rs886051507 0.00001
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr) rs1194951081 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3044A>G (p.Lys1015Arg) rs150387641 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 0.00001
NM_001113378.2(FANCI):c.3059-17T>A rs778641563 0.00001
NM_001113378.2(FANCI):c.3133C>G (p.Leu1045Val) rs1343059856 0.00001
NM_001113378.2(FANCI):c.3206C>G (p.Thr1069Arg) rs763822728 0.00001
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=) rs767103109 0.00001
NM_001113378.2(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513 0.00001
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val) rs377630829 0.00001
NM_001113378.2(FANCI):c.3428C>T (p.Thr1143Ile) rs772071601 0.00001
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg) rs1043718711 0.00001
NM_001113378.2(FANCI):c.3457C>G (p.Leu1153Val) rs368451326 0.00001
NM_001113378.2(FANCI):c.3521C>G (p.Thr1174Arg) rs757106031 0.00001
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val) rs149763090 0.00001
NM_001113378.2(FANCI):c.3592-16C>T rs754610218 0.00001
NM_001113378.2(FANCI):c.3592-9G>A rs200021557 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.3652-9T>C rs971308997 0.00001
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) rs757964620 0.00001
NM_001113378.2(FANCI):c.3709G>C (p.Ala1237Pro) rs751025656 0.00001
NM_001113378.2(FANCI):c.3898G>A (p.Glu1300Lys) rs780404413 0.00001
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys) rs561190476 0.00001
NM_001113378.2(FANCI):c.3931G>T (p.Ala1311Ser) rs754573704 0.00001
NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu) rs1410323660 0.00001
NM_001113378.2(FANCI):c.539T>C (p.Met180Thr) rs139834845 0.00001
NM_001113378.2(FANCI):c.546-6C>T rs754929965 0.00001
NM_001113378.2(FANCI):c.557T>C (p.Leu186Pro) rs1370113722 0.00001
NM_001113378.2(FANCI):c.571G>A (p.Val191Met) rs1296106146 0.00001
NM_001113378.2(FANCI):c.716C>T (p.Ala239Val) rs749779839 0.00001
NM_001113378.2(FANCI):c.811A>G (p.Ile271Val) rs778263817 0.00001
NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser) rs575416245 0.00001
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001
NM_001113378.2(FANCI):c.*614T>G rs886051521
NM_001113378.2(FANCI):c.*662C>G rs560246181
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del) rs770583031
NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)
NM_001113378.2(FANCI):c.1055del (p.Asn352fs)
NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn) rs1429851841
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) rs2053319905
NM_001113378.2(FANCI):c.1112+2T>C
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
NM_001113378.2(FANCI):c.1240C>T (p.Pro414Ser)
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg) rs146040966
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1293+1G>T
NM_001113378.2(FANCI):c.1382-5T>C rs2151549574
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.1583+142C>T rs2053631453
NM_001113378.2(FANCI):c.1584-1G>A
NM_001113378.2(FANCI):c.1584-1G>C
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
NM_001113378.2(FANCI):c.165del (p.Cys56fs)
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
NM_001113378.2(FANCI):c.1698+1G>A
NM_001113378.2(FANCI):c.1699-17del rs746745862
NM_001113378.2(FANCI):c.1699-2A>C
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn) rs2053765806
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro) rs780031757
NM_001113378.2(FANCI):c.1890+1G>T
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile)
NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val) rs746651145
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser) rs2054115728
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=) rs2054118261
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg) rs2054124504
NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val) rs780410177
NM_001113378.2(FANCI):c.2291+2T>A rs1400441798
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
NM_001113378.2(FANCI):c.2342T>C (p.Leu781Pro)
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu) rs1415605220
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2456+1G>A
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr) rs1361710673
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2637-1G>T
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2804-2A>G
NM_001113378.2(FANCI):c.2804-2A>T
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2889+1G>A
NM_001113378.2(FANCI):c.289-2A>G
NM_001113378.2(FANCI):c.2890-2A>C
NM_001113378.2(FANCI):c.2907_2908del (p.Leu969fs)
NM_001113378.2(FANCI):c.2936G>C (p.Ser979Thr) rs769453869
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) rs2052048258
NM_001113378.2(FANCI):c.3007-1G>C
NM_001113378.2(FANCI):c.3007-1G>T
NM_001113378.2(FANCI):c.3058+4A>G rs2054616468
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3200_3201insCCAC (p.Glu1067fs)
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3272A>G (p.Gln1091Arg) rs2054689057
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys) rs758575911
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp) rs1555442689
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
NM_001113378.2(FANCI):c.3350-88A>G rs2054700381
NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)
NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs) rs2054707218
NM_001113378.2(FANCI):c.3492_3493delinsT (p.Lys1164fs)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) rs548947826
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile) rs757106031
NM_001113378.2(FANCI):c.3537+19C>G rs2054711237
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
NM_001113378.2(FANCI):c.3578dup (p.Asn1193fs)
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
NM_001113378.2(FANCI):c.3592-12C>T rs2054775391
NM_001113378.2(FANCI):c.3604G>C (p.Gly1202Arg) rs747326740
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) rs1567175626
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3637A>G (p.Ile1213Val) rs767466504
NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter)
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) rs760364969
NM_001113378.2(FANCI):c.3646G>A (p.Val1216Ile) rs978000003
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=) rs766147964
NM_001113378.2(FANCI):c.3652-10A>G rs202231175
NM_001113378.2(FANCI):c.3652-10A>T rs202231175
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=) rs765168059
NM_001113378.2(FANCI):c.3688_3689del (p.Lys1230fs)
NM_001113378.2(FANCI):c.3694A>G (p.Lys1232Glu) rs1252915442
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val) rs2055029234
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.3748A>G (p.Ile1250Val) rs2055130868
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp) rs1229086339
NM_001113378.2(FANCI):c.3796C>T (p.His1266Tyr) rs2152017364
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) rs2152017390
NM_001113378.2(FANCI):c.3805A>T (p.Lys1269Ter)
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met) rs749287934
NM_001113378.2(FANCI):c.3829C>T (p.Gln1277Ter)
NM_001113378.2(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001113378.2(FANCI):c.3892C>A (p.Leu1298Ile) rs150076848
NM_001113378.2(FANCI):c.3895C>G (p.Arg1299Gly) rs551305056
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3896G>A (p.Arg1299Gln) rs138663330
NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs) rs2055186253
NM_001113378.2(FANCI):c.3924+2T>C
NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del) rs2055264556
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
NM_001113378.2(FANCI):c.446del
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
NM_001113378.2(FANCI):c.517T>C (p.Tyr173His) rs2151291390
NM_001113378.2(FANCI):c.545+1G>T
NM_001113378.2(FANCI):c.546-5C>T rs2052826764
NM_001113378.2(FANCI):c.578_589del (p.Phe193_Lys197delinsTer)
NM_001113378.2(FANCI):c.606C>T (p.Phe202=) rs886051508
NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)
NM_001113378.2(FANCI):c.669+1G>T
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
NM_001113378.2(FANCI):c.696A>T (p.Gly232=) rs2052856419
NM_001113378.2(FANCI):c.697A>G (p.Ile233Val) rs757102747
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr) rs1254032261
NM_001113378.2(FANCI):c.701_702del (p.Ile234fs)
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
NM_001113378.2(FANCI):c.756-25_756-19del rs2053061271
NM_001113378.2(FANCI):c.76_77del (p.Glu26fs)
NM_001113378.2(FANCI):c.775G>A (p.Val259Met) rs2053062704
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
NM_001113378.2(FANCI):c.800T>C (p.Val267Ala) rs1005232714
NM_001113378.2(FANCI):c.822C>T (p.His274=) rs2053064054
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly)
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.2(FANCI):c.85-1G>T
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) rs1210148997
NM_001113378.2(FANCI):c.876_879del (p.His292fs) rs2053066105
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
NM_001113378.2(FANCI):c.96_98del (p.Leu33del) rs747603151
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.3700C>G (p.Arg1234Gly) rs144346886

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