ClinVar Miner

List of variants in gene FANCD2, LOC107303338 studied for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1002
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.1414-23T>C rs10222446 0.48329
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_001018115.3(FANCD2):c.2976+36T>C rs6805869 0.23353
NM_001018115.3(FANCD2):c.990-38C>G rs9809061 0.22591
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_001018115.3(FANCD2):c.2270-28G>T rs34608006 0.19876
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_001018115.3(FANCD2):c.1413+38A>C rs7615646 0.10867
NM_001018115.3(FANCD2):c.2269+37A>G rs34323624 0.03335
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_001018115.3(FANCD2):c.571-31G>A rs35749514 0.03113
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=) rs6785756 0.03005
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=) rs55856815 0.00952
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val) rs149125003 0.00450
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr) rs143936557 0.00115
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly) rs116736407 0.00113
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_001018115.3(FANCD2):c.1656+14T>A rs200473919 0.00080
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001018115.3(FANCD2):c.2269+12A>G rs34751191 0.00067
NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=) rs181219364 0.00063
NM_001018115.3(FANCD2):c.205+9T>G rs34113138 0.00056
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg) rs141141752 0.00052
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His) rs140452766 0.00048
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu) rs146509445 0.00036
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=) rs371915501 0.00034
NM_001018115.3(FANCD2):c.1134+8T>G rs373232961 0.00029
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) rs373461068 0.00029
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_001018115.3(FANCD2):c.1015G>A (p.Gly339Ser) rs144332316 0.00026
NM_001018115.3(FANCD2):c.1766+16C>T rs201040143 0.00026
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met) rs372574627 0.00024
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=) rs560600678 0.00023
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=) rs145953386 0.00023
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) rs374019283 0.00023
NM_001018115.3(FANCD2):c.696-18T>G rs56083801 0.00021
NM_001018115.3(FANCD2):c.122T>C (p.Val41Ala) rs139025231 0.00019
NM_001018115.3(FANCD2):c.2142G>A (p.Pro714=) rs372215382 0.00018
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile) rs188375397 0.00017
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=) rs370078641 0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421 0.00016
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113 0.00016
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_001018115.3(FANCD2):c.2801C>G (p.Ser934Cys) rs200971205 0.00016
NM_001018115.3(FANCD2):c.808T>G (p.Leu270Val) rs138587722 0.00015
NM_001018115.3(FANCD2):c.888+9T>C rs777620616 0.00015
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr) rs146496253 0.00014
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=) rs61751577 0.00014
NM_001018115.3(FANCD2):c.571-19A>T rs141566218 0.00014
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=) rs141824395 0.00013
NM_001018115.3(FANCD2):c.206-20C>A rs200170760 0.00013
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_001018115.3(FANCD2):c.2976+6T>C rs201875004 0.00013
NM_001018115.3(FANCD2):c.378-4A>G rs75087355 0.00012
NM_001018115.3(FANCD2):c.2765A>G (p.His922Arg) rs1039845680 0.00011
NM_001018115.3(FANCD2):c.165A>G (p.Ser55=) rs543455922 0.00010
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=) rs200118565 0.00010
NM_001018115.3(FANCD2):c.2348G>A (p.Cys783Tyr) rs763986919 0.00009
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=) rs780547790 0.00009
NM_001018115.3(FANCD2):c.1279-2A>G rs748006255 0.00008
NM_001018115.3(FANCD2):c.2269+15C>T rs374096957 0.00008
NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala) rs145099733 0.00008
NM_001018115.3(FANCD2):c.439-18C>A rs184060118 0.00008
NM_001018115.3(FANCD2):c.672C>T (p.His224=) rs371928644 0.00008
NM_001018115.3(FANCD2):c.1200C>A (p.Asp400Glu) rs755295382 0.00007
NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=) rs752268889 0.00007
NM_001018115.3(FANCD2):c.1757C>T (p.Ala586Val) rs377490218 0.00007
NM_001018115.3(FANCD2):c.1085A>G (p.Glu362Gly) rs951763949 0.00006
NM_001018115.3(FANCD2):c.1546-8T>C rs530202330 0.00006
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys) rs143701205 0.00006
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_001018115.3(FANCD2):c.2859+13C>G rs376913349 0.00006
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His) rs566769898 0.00006
NM_001018115.3(FANCD2):c.538C>T (p.Leu180=) rs373835427 0.00006
NM_001018115.3(FANCD2):c.796G>A (p.Val266Met) rs530125285 0.00006
NM_001018115.3(FANCD2):c.889-9T>A rs767122938 0.00006
NM_001018115.3(FANCD2):c.1068T>C (p.Tyr356=) rs531943246 0.00005
NM_001018115.3(FANCD2):c.1373A>G (p.Tyr458Cys) rs535519170 0.00005
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val) rs201408009 0.00005
NM_001018115.3(FANCD2):c.183G>A (p.Thr61=) rs771445756 0.00005
NM_001018115.3(FANCD2):c.2022-4G>A rs748941966 0.00005
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn) rs534038231 0.00005
NM_001018115.3(FANCD2):c.696-11A>G rs376488313 0.00005
NM_001018115.3(FANCD2):c.836C>T (p.Pro279Leu) rs752880854 0.00005
NM_001018115.3(FANCD2):c.943C>T (p.Arg315Trp) rs778865461 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001018115.3(FANCD2):c.1134+10A>G rs758751922 0.00004
NM_001018115.3(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218 0.00004
NM_001018115.3(FANCD2):c.1306C>A (p.Leu436Met) rs373898927 0.00004
NM_001018115.3(FANCD2):c.1363A>G (p.Ser455Gly) rs112902928 0.00004
NM_001018115.3(FANCD2):c.1657-15A>G rs753419823 0.00004
NM_001018115.3(FANCD2):c.1718T>C (p.Ile573Thr) rs774801047 0.00004
NM_001018115.3(FANCD2):c.1740C>T (p.Thr580=) rs200041772 0.00004
NM_001018115.3(FANCD2):c.1802A>G (p.Asn601Ser) rs955122662 0.00004
NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666 0.00004
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=) rs773593671 0.00004
NM_001018115.3(FANCD2):c.2309A>G (p.Lys770Arg) rs533245636 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001018115.3(FANCD2):c.2422A>G (p.Met808Val) rs375415579 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr) rs767659342 0.00004
NM_001018115.3(FANCD2):c.274-6_274-4del rs762278011 0.00004
NM_001018115.3(FANCD2):c.2741C>T (p.Thr914Ile) rs764903036 0.00004
NM_001018115.3(FANCD2):c.2744C>T (p.Ser915Leu) rs181274599 0.00004
NM_001018115.3(FANCD2):c.595C>G (p.Leu199Val) rs756336462 0.00004
NM_001018115.3(FANCD2):c.695+19A>G rs369890094 0.00004
NM_001018115.3(FANCD2):c.776T>C (p.Leu259Pro) rs748724233 0.00004
NM_001018115.3(FANCD2):c.1011C>A (p.Ser337Arg) rs748171507 0.00003
NM_001018115.3(FANCD2):c.1221T>C (p.Ile407=) rs745305575 0.00003
NM_001018115.3(FANCD2):c.1234A>G (p.Ile412Val) rs776482951 0.00003
NM_001018115.3(FANCD2):c.1440T>C (p.His480=) rs375412395 0.00003
NM_001018115.3(FANCD2):c.144T>A (p.Phe48Leu) rs750534583 0.00003
NM_001018115.3(FANCD2):c.1545+9T>C rs769459614 0.00003
NM_001018115.3(FANCD2):c.172A>G (p.Ile58Val) rs766098612 0.00003
NM_001018115.3(FANCD2):c.1766+7G>A rs563561289 0.00003
NM_001018115.3(FANCD2):c.1948-7C>T rs757782326 0.00003
NM_001018115.3(FANCD2):c.2012T>G (p.Val671Gly) rs373337896 0.00003
NM_001018115.3(FANCD2):c.2116C>G (p.Gln706Glu) rs147532349 0.00003
NM_001018115.3(FANCD2):c.2196G>A (p.Pro732=) rs200848801 0.00003
NM_001018115.3(FANCD2):c.2238C>T (p.Asn746=) rs35817402 0.00003
NM_001018115.3(FANCD2):c.2361T>G (p.Phe787Leu) rs765365413 0.00003
NM_001018115.3(FANCD2):c.2372A>G (p.Asn791Ser) rs758718558 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001018115.3(FANCD2):c.2716-15G>A rs771386311 0.00003
NM_001018115.3(FANCD2):c.273+14C>T rs749849880 0.00003
NM_001018115.3(FANCD2):c.2942C>T (p.Thr981Ile) rs1468736218 0.00003
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638 0.00003
NM_001018115.3(FANCD2):c.571-3C>T rs191386799 0.00003
NM_001018115.3(FANCD2):c.65-18A>C rs747412191 0.00003
NM_001018115.3(FANCD2):c.817A>G (p.Ile273Val) rs770985541 0.00003
NM_001018115.3(FANCD2):c.865G>A (p.Val289Ile) rs371273577 0.00003
NM_001018115.3(FANCD2):c.1014C>T (p.Ser338=) rs527769128 0.00002
NM_001018115.3(FANCD2):c.1027A>G (p.Ile343Val) rs993692917 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.1317T>A (p.Ala439=) rs368441247 0.00002
NM_001018115.3(FANCD2):c.1745C>T (p.Ala582Val) rs768105189 0.00002
NM_001018115.3(FANCD2):c.1766+3A>G rs758140679 0.00002
NM_001018115.3(FANCD2):c.1788C>A (p.Thr596=) rs779249492 0.00002
NM_001018115.3(FANCD2):c.245C>T (p.Thr82Ile) rs1221930544 0.00002
NM_001018115.3(FANCD2):c.2586C>T (p.Ile862=) rs367838566 0.00002
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) rs766286504 0.00002
NM_001018115.3(FANCD2):c.310A>G (p.Ile104Val) rs774299094 0.00002
NM_001018115.3(FANCD2):c.355C>T (p.Arg119Cys) rs200335298 0.00002
NM_001018115.3(FANCD2):c.377+17T>C rs45593431 0.00002
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=) rs373600764 0.00002
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr) rs751126921 0.00002
NM_001018115.3(FANCD2):c.903T>A (p.Leu301=) rs752360517 0.00002
NM_001018115.3(FANCD2):c.1047A>G (p.Val349=) rs761258624 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1132A>G (p.Lys378Glu) rs1171804978 0.00001
NM_001018115.3(FANCD2):c.1235T>C (p.Ile412Thr) rs148255762 0.00001
NM_001018115.3(FANCD2):c.1250T>C (p.Leu417Pro) rs1369011648 0.00001
NM_001018115.3(FANCD2):c.1278+6T>C rs779894573 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.1310C>T (p.Ser437Leu) rs1349417700 0.00001
NM_001018115.3(FANCD2):c.1311G>A (p.Ser437=) rs564577177 0.00001
NM_001018115.3(FANCD2):c.1325T>G (p.Leu442Trp) rs1400034764 0.00001
NM_001018115.3(FANCD2):c.1343A>G (p.Gln448Arg) rs777539464 0.00001
NM_001018115.3(FANCD2):c.1366C>A (p.Leu456Ile) rs780374375 0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) rs1181436417 0.00001
NM_001018115.3(FANCD2):c.1371A>T (p.Leu457=) rs1364599822 0.00001
NM_001018115.3(FANCD2):c.1400C>T (p.Thr467Met) rs760246372 0.00001
NM_001018115.3(FANCD2):c.1414-4A>G rs781613701 0.00001
NM_001018115.3(FANCD2):c.1465G>A (p.Val489Ile) rs761454597 0.00001
NM_001018115.3(FANCD2):c.1480G>T (p.Asp494Tyr) rs1312307141 0.00001
NM_001018115.3(FANCD2):c.1516G>A (p.Ala506Thr) rs767699213 0.00001
NM_001018115.3(FANCD2):c.1519A>G (p.Met507Val) rs376708399 0.00001
NM_001018115.3(FANCD2):c.1546-7T>A rs548887691 0.00001
NM_001018115.3(FANCD2):c.1589G>A (p.Arg530Gln) rs1249790407 0.00001
NM_001018115.3(FANCD2):c.1671G>A (p.Leu557=) rs746726118 0.00001
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=) rs769844392 0.00001
NM_001018115.3(FANCD2):c.1699G>A (p.Val567Ile) rs773483393 0.00001
NM_001018115.3(FANCD2):c.1758G>A (p.Ala586=) rs370284275 0.00001
NM_001018115.3(FANCD2):c.1767-7T>C rs756066137 0.00001
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=) rs1447943740 0.00001
NM_001018115.3(FANCD2):c.1835C>T (p.Ser612Phe) rs760516842 0.00001
NM_001018115.3(FANCD2):c.1864G>A (p.Glu622Lys) rs375951862 0.00001
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) rs770231582 0.00001
NM_001018115.3(FANCD2):c.1903T>C (p.Phe635Leu) rs1179966779 0.00001
NM_001018115.3(FANCD2):c.1912C>G (p.Leu638Val) rs760324486 0.00001
NM_001018115.3(FANCD2):c.1948-6C>A rs779350241 0.00001
NM_001018115.3(FANCD2):c.1993G>A (p.Val665Ile) rs774405864 0.00001
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=) rs138189144 0.00001
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=) rs552206789 0.00001
NM_001018115.3(FANCD2):c.2085T>C (p.Ile695=) rs760296624 0.00001
NM_001018115.3(FANCD2):c.2170T>G (p.Leu724Val) rs201243424 0.00001
NM_001018115.3(FANCD2):c.2175G>A (p.Val725=) rs776116877 0.00001
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser) rs911843298 0.00001
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp) rs752621186 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg) rs2087692676 0.00001
NM_001018115.3(FANCD2):c.2265A>G (p.Leu755=) rs376828609 0.00001
NM_001018115.3(FANCD2):c.2269+3A>G rs1246708998 0.00001
NM_001018115.3(FANCD2):c.2270A>G (p.Asp757Gly) rs779060030 0.00001
NM_001018115.3(FANCD2):c.2351C>T (p.Ser784Phe) rs1398046806 0.00001
NM_001018115.3(FANCD2):c.2366C>T (p.Thr789Ile) rs1263342232 0.00001
NM_001018115.3(FANCD2):c.2376G>C (p.Trp792Cys) rs752013429 0.00001
NM_001018115.3(FANCD2):c.2386-15A>G rs542904509 0.00001
NM_001018115.3(FANCD2):c.2420A>T (p.Glu807Val) rs1305213202 0.00001
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn) rs769811062 0.00001
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=) rs574054963 0.00001
NM_001018115.3(FANCD2):c.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.2494+9A>G rs754665005 0.00001
NM_001018115.3(FANCD2):c.251G>A (p.Arg84Lys) rs375506300 0.00001
NM_001018115.3(FANCD2):c.2577A>G (p.Ser859=) rs772038476 0.00001
NM_001018115.3(FANCD2):c.2605+20C>G rs1429678820 0.00001
NM_001018115.3(FANCD2):c.2606-7A>G rs757102395 0.00001
NM_001018115.3(FANCD2):c.2632A>C (p.Lys878Gln) rs780018258 0.00001
NM_001018115.3(FANCD2):c.2715+20C>G rs199714316 0.00001
NM_001018115.3(FANCD2):c.2730G>T (p.Lys910Asn) rs369241246 0.00001
NM_001018115.3(FANCD2):c.2745_2747del (p.Leu918del) rs1232274352 0.00001
NM_001018115.3(FANCD2):c.2810A>G (p.His937Arg) rs746389067 0.00001
NM_001018115.3(FANCD2):c.2860-6T>A rs772531991 0.00001
NM_001018115.3(FANCD2):c.289G>A (p.Val97Ile) rs1480379325 0.00001
NM_001018115.3(FANCD2):c.2926C>A (p.Leu976Met) rs753809948 0.00001
NM_001018115.3(FANCD2):c.2976+5G>A rs748710535 0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) rs764507146 0.00001
NM_001018115.3(FANCD2):c.382G>T (p.Gly128Cys) rs772201181 0.00001
NM_001018115.3(FANCD2):c.438+8T>G rs762114353 0.00001
NM_001018115.3(FANCD2):c.439-3T>C rs771998947 0.00001
NM_001018115.3(FANCD2):c.461T>C (p.Phe154Ser) rs200668378 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln) rs41291203 0.00001
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=) rs2086806957 0.00001
NM_001018115.3(FANCD2):c.586A>G (p.Ile196Val) rs779216164 0.00001
NM_001018115.3(FANCD2):c.65-3C>T rs1461324891 0.00001
NM_001018115.3(FANCD2):c.695+10C>T rs757359450 0.00001
NM_001018115.3(FANCD2):c.695+18C>T rs767119830 0.00001
NM_001018115.3(FANCD2):c.696-1G>A rs954555240 0.00001
NM_001018115.3(FANCD2):c.704T>C (p.Leu235Pro) rs760574880 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001018115.3(FANCD2):c.778T>C (p.Leu260=) rs756621826 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.784-9A>G rs1388537203 0.00001
NM_001018115.3(FANCD2):c.805A>C (p.Lys269Gln) rs747977469 0.00001
NM_001018115.3(FANCD2):c.812C>T (p.Ser271Leu) rs766821340 0.00001
NM_001018115.3(FANCD2):c.813G>A (p.Ser271=) rs773072936 0.00001
NM_001018115.3(FANCD2):c.828G>A (p.Glu276=) rs1246470195 0.00001
NM_001018115.3(FANCD2):c.888+8C>G rs201124351 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001018115.3(FANCD2):c.908A>G (p.Glu303Gly) rs367824549 0.00001
NM_001018115.3(FANCD2):c.976A>G (p.Lys326Glu) rs183778817 0.00001
NM_001018115.3(FANCD2):c.989+9C>T rs2086907710 0.00001
NC_000003.12:g.(?_10028648)_(10043874_?)del
NC_000003.12:g.(?_10028648)_(10046733_?)del
NM_001018115.3(FANCD2):c.1003C>T (p.Gln335Ter)
NM_001018115.3(FANCD2):c.1009A>T (p.Ser337Cys)
NM_001018115.3(FANCD2):c.100A>G (p.Lys34Glu) rs1394658178
NM_001018115.3(FANCD2):c.1016G>A (p.Gly339Asp) rs1575749612
NM_001018115.3(FANCD2):c.1018C>G (p.Gln340Glu)
NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)
NM_001018115.3(FANCD2):c.1019A>G (p.Gln340Arg)
NM_001018115.3(FANCD2):c.1020G>A (p.Gln340=)
NM_001018115.3(FANCD2):c.1033CTC[1] (p.Leu346del) rs1158786668
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro) rs773847165
NM_001018115.3(FANCD2):c.1044T>C (p.Asp348=)
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
NM_001018115.3(FANCD2):c.1053G>A (p.Lys351=)
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001018115.3(FANCD2):c.1078del (p.Ile360fs)
NM_001018115.3(FANCD2):c.107A>G (p.His36Arg) rs2124970667
NM_001018115.3(FANCD2):c.1088C>G (p.Ala363Gly)
NM_001018115.3(FANCD2):c.1091G>C (p.Trp364Ser) rs2086921184
NM_001018115.3(FANCD2):c.1092G>A (p.Trp364Ter) rs2086921262
NM_001018115.3(FANCD2):c.1098+16C>G
NM_001018115.3(FANCD2):c.1098+16C>T
NM_001018115.3(FANCD2):c.1098+17T>A
NM_001018115.3(FANCD2):c.1098+19T>C
NM_001018115.3(FANCD2):c.1098+20_1098+23del
NM_001018115.3(FANCD2):c.1098+27A>G rs189978498
NM_001018115.3(FANCD2):c.1098+2T>A
NM_001018115.3(FANCD2):c.1098+4A>G rs664233
NM_001018115.3(FANCD2):c.1099-6T>G rs759324309
NM_001018115.3(FANCD2):c.1102_1103insCC (p.Ile368fs)
NM_001018115.3(FANCD2):c.1116del (p.Ser373fs)
NM_001018115.3(FANCD2):c.111T>C (p.Ile37=)
NM_001018115.3(FANCD2):c.1128A>G (p.Glu376=)
NM_001018115.3(FANCD2):c.1134+10A>C
NM_001018115.3(FANCD2):c.1134+1G>A
NM_001018115.3(FANCD2):c.1135-1G>C
NM_001018115.3(FANCD2):c.1135-25G>A rs201770712
NM_001018115.3(FANCD2):c.1135-6C>A rs2087017963
NM_001018115.3(FANCD2):c.1136T>C (p.Val379Ala) rs1006403887
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1178C>G (p.Thr393Ser) rs765339192
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.1181dup (p.Thr395fs) rs2125000228
NM_001018115.3(FANCD2):c.1185A>G (p.Thr395=) rs2125000243
NM_001018115.3(FANCD2):c.118G>A (p.Glu40Lys) rs2086637443
NM_001018115.3(FANCD2):c.1200C>T (p.Asp400=) rs755295382
NM_001018115.3(FANCD2):c.1200_1201insTTCTTTGTCTAATGTACTA (p.Arg401delinsPhePheValTer) rs2125000318
NM_001018115.3(FANCD2):c.1201del (p.Arg401fs) rs1553608812
NM_001018115.3(FANCD2):c.1207C>G (p.Leu403Val) rs753223864
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_001018115.3(FANCD2):c.1223G>A (p.Arg408Gln) rs370522983
NM_001018115.3(FANCD2):c.1223G>T (p.Arg408Leu)
NM_001018115.3(FANCD2):c.1232G>T (p.Cys411Phe) rs886057663
NM_001018115.3(FANCD2):c.1248G>T (p.Leu416=) rs1365912085
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
NM_001018115.3(FANCD2):c.125A>G (p.Glu42Gly)
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1278+15C>T rs144167368
NM_001018115.3(FANCD2):c.1278+2dup rs1553608861
NM_001018115.3(FANCD2):c.1278+3_1278+5del rs375350046
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001018115.3(FANCD2):c.1279-1G>A rs1294791314
NM_001018115.3(FANCD2):c.1279-2A>C
NM_001018115.3(FANCD2):c.1279-3A>T rs1354341272
NM_001018115.3(FANCD2):c.1279G>A (p.Val427Ile) rs529893298
NM_001018115.3(FANCD2):c.1311G>T (p.Ser437=) rs564577177
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
NM_001018115.3(FANCD2):c.1321_1322del (p.Ser441fs) rs2087073639
NM_001018115.3(FANCD2):c.1335T>C (p.Ser445=) rs1575759741
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly) rs2087075324
NM_001018115.3(FANCD2):c.1349T>C (p.Ile450Thr) rs549790164
NM_001018115.3(FANCD2):c.1349T>G (p.Ile450Arg) rs549790164
NM_001018115.3(FANCD2):c.1383A>G (p.Ala461=) rs1324641371
NM_001018115.3(FANCD2):c.139A>G (p.Ile47Val)
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
NM_001018115.3(FANCD2):c.1413+14T>C rs12330599
NM_001018115.3(FANCD2):c.1413+2T>A rs1459222478
NM_001018115.3(FANCD2):c.1413+2T>C rs1459222478
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.1413+8G>A rs2087079196
NM_001018115.3(FANCD2):c.1414-69_1545+258del rs2087125303
NM_001018115.3(FANCD2):c.1414-9C>T rs35557429
NM_001018115.3(FANCD2):c.1419G>T (p.Val473=) rs140350157
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val) rs2087129096
NM_001018115.3(FANCD2):c.1447A>C (p.Ser483Arg) rs2087129366
NM_001018115.3(FANCD2):c.144T>C (p.Phe48=) rs750534583
NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly) rs780343756
NM_001018115.3(FANCD2):c.1470T>C (p.Asp490=) rs567183176
NM_001018115.3(FANCD2):c.1487T>G (p.Leu496Arg) rs2125006396
NM_001018115.3(FANCD2):c.150G>A (p.Lys50=)
NM_001018115.3(FANCD2):c.1545+1G>T
NM_001018115.3(FANCD2):c.1546-1G>A
NM_001018115.3(FANCD2):c.1546-6C>T
NM_001018115.3(FANCD2):c.1547G>T (p.Gly516Val)
NM_001018115.3(FANCD2):c.1549A>G (p.Ile517Val) rs2087243822
NM_001018115.3(FANCD2):c.1550T>C (p.Ile517Thr) rs1221998060
NM_001018115.3(FANCD2):c.1555G>A (p.Asp519Asn) rs780491203
NM_001018115.3(FANCD2):c.1555G>C (p.Asp519His)
NM_001018115.3(FANCD2):c.1557T>G (p.Asp519Glu)
NM_001018115.3(FANCD2):c.1572_1573del (p.Ser525fs)
NM_001018115.3(FANCD2):c.1573T>G (p.Ser525Ala)
NM_001018115.3(FANCD2):c.1576C>T (p.Pro526Ser)
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.1596C>A (p.Leu532=)
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=) rs2087245604
NM_001018115.3(FANCD2):c.1601A>T (p.Tyr534Phe) rs143701205
NM_001018115.3(FANCD2):c.1604T>C (p.Val535Ala) rs2125011965
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1615C>A (p.Leu539Met)
NM_001018115.3(FANCD2):c.1618G>T (p.Ala540Ser) rs765324038
NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)
NM_001018115.3(FANCD2):c.1626C>T (p.Ser542=)
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
NM_001018115.3(FANCD2):c.1650C>G (p.His550Gln)
NM_001018115.3(FANCD2):c.1653C>T (p.Ile551=)
NM_001018115.3(FANCD2):c.1654C>T (p.Gln552Ter)
NM_001018115.3(FANCD2):c.1656+10A>C rs2087247708
NM_001018115.3(FANCD2):c.1656+1G>A
NM_001018115.3(FANCD2):c.1656+7G>A
NM_001018115.3(FANCD2):c.1657-12A>T
NM_001018115.3(FANCD2):c.1657-12_1657-10del
NM_001018115.3(FANCD2):c.1657-16C>G rs1335826866
NM_001018115.3(FANCD2):c.1657-18T>G
NM_001018115.3(FANCD2):c.1657-5T>G rs2125026589
NM_001018115.3(FANCD2):c.1659T>C (p.Asp553=)
NM_001018115.3(FANCD2):c.1663A>G (p.Met555Val)
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg) rs1232065920
NM_001018115.3(FANCD2):c.1668C>T (p.His556=) rs2125026611
NM_001018115.3(FANCD2):c.1678A>C (p.Arg560=)
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
NM_001018115.3(FANCD2):c.1689C>G (p.Leu563=)
NM_001018115.3(FANCD2):c.1689C>T (p.Leu563=) rs1281020807
NM_001018115.3(FANCD2):c.1691_1692del (p.Leu563_Ser564insTer)
NM_001018115.3(FANCD2):c.1692T>C (p.Ser564=)
NM_001018115.3(FANCD2):c.1717A>G (p.Ile573Val)
NM_001018115.3(FANCD2):c.1727T>C (p.Ile576Thr)
NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)
NM_001018115.3(FANCD2):c.1732G>A (p.Ala578Thr) rs2087530880
NM_001018115.3(FANCD2):c.1734T>C (p.Ala578=)
NM_001018115.3(FANCD2):c.174T>A (p.Ile58=)
NM_001018115.3(FANCD2):c.1753A>G (p.Met585Val)
NM_001018115.3(FANCD2):c.1759G>A (p.Ala587Thr) rs1553610798
NM_001018115.3(FANCD2):c.1766+13A>G
NM_001018115.3(FANCD2):c.1766+15T>G
NM_001018115.3(FANCD2):c.1766+17T>C
NM_001018115.3(FANCD2):c.1766+19A>G
NM_001018115.3(FANCD2):c.1766+1G>A
NM_001018115.3(FANCD2):c.1766+4C>G
NM_001018115.3(FANCD2):c.1766+4C>T
NM_001018115.3(FANCD2):c.1766+7G>T
NM_001018115.3(FANCD2):c.1767-10T>C
NM_001018115.3(FANCD2):c.1788C>G (p.Thr596=)
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
NM_001018115.3(FANCD2):c.1794G>A (p.Glu598=)
NM_001018115.3(FANCD2):c.1796G>A (p.Arg599Lys) rs1575787379
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile) rs955122662
NM_001018115.3(FANCD2):c.1807A>C (p.Ser603Arg)
NM_001018115.3(FANCD2):c.1809C>T (p.Ser603=)
NM_001018115.3(FANCD2):c.180A>G (p.Lys60=)
NM_001018115.3(FANCD2):c.1815G>A (p.Glu605=)
NM_001018115.3(FANCD2):c.1821C>T (p.Cys607=) rs2087590153
NM_001018115.3(FANCD2):c.1825C>T (p.Gln609Ter) rs1247410343
NM_001018115.3(FANCD2):c.1827+15del
NM_001018115.3(FANCD2):c.1827+15dup
NM_001018115.3(FANCD2):c.1827+1G>C rs761074497
NM_001018115.3(FANCD2):c.1828-11C>T
NM_001018115.3(FANCD2):c.1828-12T>G
NM_001018115.3(FANCD2):c.1828-18T>C
NM_001018115.3(FANCD2):c.1828-20A>C
NM_001018115.3(FANCD2):c.1837T>C (p.Leu613=) rs2125032558
NM_001018115.3(FANCD2):c.1837TTG[3] (p.Leu614_Gln615insLeu)
NM_001018115.3(FANCD2):c.1839G>A (p.Leu613=)
NM_001018115.3(FANCD2):c.183G>T (p.Thr61=) rs771445756
NM_001018115.3(FANCD2):c.1854T>C (p.His618=)
NM_001018115.3(FANCD2):c.1863T>C (p.Ser621=)
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
NM_001018115.3(FANCD2):c.1866G>A (p.Glu622=)
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter) rs2125032674
NM_001018115.3(FANCD2):c.1867C>T (p.Gln623Ter)
NM_001018115.3(FANCD2):c.186A>G (p.Gly62=)
NM_001018115.3(FANCD2):c.1874C>T (p.Pro625Leu) rs886057690
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
NM_001018115.3(FANCD2):c.187G>A (p.Glu63Lys)
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.1910A>G (p.Asn637Ser)
NM_001018115.3(FANCD2):c.1916del (p.Ile639fs)
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_001018115.3(FANCD2):c.1917C>T (p.Ile639=)
NM_001018115.3(FANCD2):c.1922A>G (p.His641Arg) rs750353000
NM_001018115.3(FANCD2):c.192_195del (p.Ser64fs) rs1221526082
NM_001018115.3(FANCD2):c.1938A>G (p.Pro646=)
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
NM_001018115.3(FANCD2):c.1945C>T (p.Leu649=)
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
NM_001018115.3(FANCD2):c.1947+14T>G
NM_001018115.3(FANCD2):c.1947+1G>A
NM_001018115.3(FANCD2):c.1947+3A>G
NM_001018115.3(FANCD2):c.1947+6G>A
NM_001018115.3(FANCD2):c.1947+7C>T
NM_001018115.3(FANCD2):c.1947+9A>G
NM_001018115.3(FANCD2):c.1947G>A (p.Leu649=) rs753041155
NM_001018115.3(FANCD2):c.1947G>C (p.Leu649=) rs753041155
NM_001018115.3(FANCD2):c.1948-15G>C
NM_001018115.3(FANCD2):c.1948-16T>G rs2087653225
NM_001018115.3(FANCD2):c.1954G>A (p.Val652Ile) rs1381447946
NM_001018115.3(FANCD2):c.1954G>C (p.Val652Leu) rs1381447946
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
NM_001018115.3(FANCD2):c.1965C>G (p.Thr655=)
NM_001018115.3(FANCD2):c.1989C>G (p.Ala663=) rs2087655199
NM_001018115.3(FANCD2):c.1996G>A (p.Val666Met)
NM_001018115.3(FANCD2):c.2001C>T (p.Asp667=)
NM_001018115.3(FANCD2):c.2003C>T (p.Ser668Phe)
NM_001018115.3(FANCD2):c.2006G>C (p.Cys669Ser)
NM_001018115.3(FANCD2):c.2014C>A (p.Pro672Thr)
NM_001018115.3(FANCD2):c.2015C>T (p.Pro672Leu) rs754258198
NM_001018115.3(FANCD2):c.2019A>T (p.Glu673Asp) rs2125034174
NM_001018115.3(FANCD2):c.2020G>A (p.Gly674Ser)
NM_001018115.3(FANCD2):c.2021+15C>T rs2125034247
NM_001018115.3(FANCD2):c.2021+5G>A rs1243372102
NM_001018115.3(FANCD2):c.2022-4G>T rs748941966
NM_001018115.3(FANCD2):c.2022-5C>A
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2022-6C>T rs2125034948
NM_001018115.3(FANCD2):c.2023G>C (p.Asp675His)
NM_001018115.3(FANCD2):c.2025C>T (p.Asp675=)
NM_001018115.3(FANCD2):c.2028T>C (p.Phe676=)
NM_001018115.3(FANCD2):c.202C>T (p.Leu68=)
NM_001018115.3(FANCD2):c.2030C>T (p.Pro677Leu) rs2087667280
NM_001018115.3(FANCD2):c.2048T>G (p.Leu683Arg)
NM_001018115.3(FANCD2):c.2049G>A (p.Leu683=) rs768608195
NM_001018115.3(FANCD2):c.205+16A>G
NM_001018115.3(FANCD2):c.205+1G>A rs2124970985
NM_001018115.3(FANCD2):c.205+4_205+6del
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
NM_001018115.3(FANCD2):c.2052C>T (p.Tyr684=) rs776906387
NM_001018115.3(FANCD2):c.2055A>C (p.Gly685=) rs2125035070
NM_001018115.3(FANCD2):c.2057T>C (p.Leu686Pro)
NM_001018115.3(FANCD2):c.206-14T>C
NM_001018115.3(FANCD2):c.206-15C>T
NM_001018115.3(FANCD2):c.206-18C>G
NM_001018115.3(FANCD2):c.206-1G>T rs2124974541
NM_001018115.3(FANCD2):c.206-2A>T rs771573600
NM_001018115.3(FANCD2):c.206-4A>G
NM_001018115.3(FANCD2):c.206-5C>T
NM_001018115.3(FANCD2):c.206-6G>A rs1386251857
NM_001018115.3(FANCD2):c.206-9T>C
NM_001018115.3(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_001018115.3(FANCD2):c.2077G>T (p.Asp693Tyr) rs2125035150
NM_001018115.3(FANCD2):c.2082G>T (p.Gly694=) rs1575792797
NM_001018115.3(FANCD2):c.2083A>C (p.Ile695Leu) rs2125035169
NM_001018115.3(FANCD2):c.2087C>T (p.Ala696Val) rs2087669561
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_001018115.3(FANCD2):c.2097C>A (p.Leu699=)
NM_001018115.3(FANCD2):c.2102C>T (p.Pro701Leu)
NM_001018115.3(FANCD2):c.2103G>A (p.Pro701=) rs139033444
NM_001018115.3(FANCD2):c.2103G>T (p.Pro701=) rs139033444
NM_001018115.3(FANCD2):c.2109_2110insGAGGT (p.Phe704fs)
NM_001018115.3(FANCD2):c.2116C>T (p.Gln706Ter)
NM_001018115.3(FANCD2):c.2121C>T (p.Asp707=)
NM_001018115.3(FANCD2):c.2133T>C (p.Asp711=) rs2125035366
NM_001018115.3(FANCD2):c.2135G>A (p.Gly712Glu)
NM_001018115.3(FANCD2):c.2136G>A (p.Gly712=)
NM_001018115.3(FANCD2):c.2136G>C (p.Gly712=)
NM_001018115.3(FANCD2):c.2138del (p.Gly713fs)
NM_001018115.3(FANCD2):c.2144dup (p.Thr716fs)
NM_001018115.3(FANCD2):c.2148C>T (p.Thr716=)
NM_001018115.3(FANCD2):c.2151A>G (p.Ser717=)
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
NM_001018115.3(FANCD2):c.2153A>T (p.Gln718Leu)
NM_001018115.3(FANCD2):c.2158dup (p.Ser720fs)
NM_001018115.3(FANCD2):c.2160del (p.Gly721fs) rs2125035511
NM_001018115.3(FANCD2):c.2164C>T (p.Gln722Ter)
NM_001018115.3(FANCD2):c.2168+5G>C rs1237529867
NM_001018115.3(FANCD2):c.2168+9A>T
NM_001018115.3(FANCD2):c.2168+9del rs1364300331
NM_001018115.3(FANCD2):c.2168_2168+1delinsT rs2087674573
NM_001018115.3(FANCD2):c.2169-15A>G
NM_001018115.3(FANCD2):c.2169-17T>A
NM_001018115.3(FANCD2):c.2169-19A>T
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.2169-6_2169-4del
NM_001018115.3(FANCD2):c.2169-9C>T
NM_001018115.3(FANCD2):c.216A>G (p.Gln72=)
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr) rs1168778380
NM_001018115.3(FANCD2):c.2178T>C (p.Ser726=) rs761465333
NM_001018115.3(FANCD2):c.2188C>T (p.Leu730=)
NM_001018115.3(FANCD2):c.219A>G (p.Ile73Met) rs2124974577
NM_001018115.3(FANCD2):c.2205G>T (p.Arg735=) rs2125036460
NM_001018115.3(FANCD2):c.2214A>G (p.Arg738=) rs527711543
NM_001018115.3(FANCD2):c.2215C>A (p.Leu739Ile)
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
NM_001018115.3(FANCD2):c.2218T>C (p.Cys740Arg) rs368885711
NM_001018115.3(FANCD2):c.2219G>T (p.Cys740Phe)
NM_001018115.3(FANCD2):c.221C>T (p.Ala74Val)
NM_001018115.3(FANCD2):c.2221G>A (p.Val741Met)
NM_001018115.3(FANCD2):c.2224G>A (p.Glu742Lys)
NM_001018115.3(FANCD2):c.2246T>G (p.Leu749Trp) rs1426222284
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
NM_001018115.3(FANCD2):c.2251G>A (p.Glu751Lys) rs1559389326
NM_001018115.3(FANCD2):c.2252A>C (p.Glu751Ala)
NM_001018115.3(FANCD2):c.2253G>A (p.Glu751=) rs2125036589
NM_001018115.3(FANCD2):c.2255T>C (p.Ile752Thr)
NM_001018115.3(FANCD2):c.2259T>C (p.Asp753=)
NM_001018115.3(FANCD2):c.2266C>T (p.Leu756=)
NM_001018115.3(FANCD2):c.2269+11_2269+12del
NM_001018115.3(FANCD2):c.2269+16A>G
NM_001018115.3(FANCD2):c.2269+16A>T
NM_001018115.3(FANCD2):c.2269+1G>A
NM_001018115.3(FANCD2):c.2269+20G>C rs2087695350
NM_001018115.3(FANCD2):c.2269+9T>G
NM_001018115.3(FANCD2):c.2270-10T>C rs2125037080
NM_001018115.3(FANCD2):c.2270-1G>C
NM_001018115.3(FANCD2):c.2270-7C>T
NM_001018115.3(FANCD2):c.2270-9C>G
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu) rs758628578
NM_001018115.3(FANCD2):c.2284C>G (p.Leu762Val)
NM_001018115.3(FANCD2):c.2295G>A (p.Leu765=)
NM_001018115.3(FANCD2):c.2300C>T (p.Pro767Leu) rs2087705679
NM_001018115.3(FANCD2):c.230del (p.Lys77fs) rs770835633
NM_001018115.3(FANCD2):c.2311T>C (p.Leu771=) rs1045809342
NM_001018115.3(FANCD2):c.2320A>G (p.Met774Val)
NM_001018115.3(FANCD2):c.2321T>C (p.Met774Thr)
NM_001018115.3(FANCD2):c.2333_2334del (p.Glu778fs)
NM_001018115.3(FANCD2):c.2336G>A (p.Arg779His) rs377083479
NM_001018115.3(FANCD2):c.2340A>G (p.Ser780=)
NM_001018115.3(FANCD2):c.2344A>G (p.Met782Val) rs779740652
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
NM_001018115.3(FANCD2):c.2354_2355del (p.Leu785fs)
NM_001018115.3(FANCD2):c.2358A>G (p.Ile786Met) rs2087707764
NM_001018115.3(FANCD2):c.235dup (p.Leu79fs) rs2124974621
NM_001018115.3(FANCD2):c.2367T>G (p.Thr789=)
NM_001018115.3(FANCD2):c.2373C>T (p.Asn791=) rs1575795387
NM_001018115.3(FANCD2):c.237C>G (p.Leu79=)
NM_001018115.3(FANCD2):c.2381G>A (p.Arg794Gln)
NM_001018115.3(FANCD2):c.2385+6C>T
NM_001018115.3(FANCD2):c.2385+8G>T
NM_001018115.3(FANCD2):c.2386-11G>A
NM_001018115.3(FANCD2):c.2386-5T>C
NM_001018115.3(FANCD2):c.2386-9A>G
NM_001018115.3(FANCD2):c.2386A>C (p.Ile796Leu)
NM_001018115.3(FANCD2):c.2387T>C (p.Ile796Thr)
NM_001018115.3(FANCD2):c.2396C>A (p.Ala799Asp) rs1193547837
NM_001018115.3(FANCD2):c.2397C>A (p.Ala799=)
NM_001018115.3(FANCD2):c.2404C>T (p.Gln802Ter) rs1374735618
NM_001018115.3(FANCD2):c.2406G>A (p.Gln802=)
NM_001018115.3(FANCD2):c.2412A>G (p.Thr804=)
NM_001018115.3(FANCD2):c.2422A>T (p.Met808Leu) rs375415579
NM_001018115.3(FANCD2):c.2425A>T (p.Lys809Ter)
NM_001018115.3(FANCD2):c.2436G>A (p.Val812=)
NM_001018115.3(FANCD2):c.2442T>C (p.Thr814=)
NM_001018115.3(FANCD2):c.2446T>G (p.Leu816Val) rs2125039040
NM_001018115.3(FANCD2):c.2447T>A (p.Leu816Ter)
NM_001018115.3(FANCD2):c.2451G>A (p.Lys817=)
NM_001018115.3(FANCD2):c.2451G>C (p.Lys817Asn)
NM_001018115.3(FANCD2):c.2464T>C (p.Leu822=)
NM_001018115.3(FANCD2):c.2472A>C (p.Ile824=)
NM_001018115.3(FANCD2):c.2484G>C (p.Lys828Asn)
NM_001018115.3(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_001018115.3(FANCD2):c.2488T>G (p.Leu830Val)
NM_001018115.3(FANCD2):c.2490G>A (p.Leu830=)
NM_001018115.3(FANCD2):c.2494+10G>A
NM_001018115.3(FANCD2):c.2494+11T>A
NM_001018115.3(FANCD2):c.2494+13T>C
NM_001018115.3(FANCD2):c.2494+18T>G
NM_001018115.3(FANCD2):c.2494+95C>A rs1575797993
NM_001018115.3(FANCD2):c.2494+97T>A rs1575797996
NM_001018115.3(FANCD2):c.2494+98C>A rs1575798002
NM_001018115.3(FANCD2):c.2495-13C>T
NM_001018115.3(FANCD2):c.2495-14G>A
NM_001018115.3(FANCD2):c.2495-16C>T
NM_001018115.3(FANCD2):c.2495-18G>C
NM_001018115.3(FANCD2):c.2495-2A>G
NM_001018115.3(FANCD2):c.2495-3C>A rs2125047914
NM_001018115.3(FANCD2):c.2495-4T>G rs1553612428
NM_001018115.3(FANCD2):c.2495-7G>A
NM_001018115.3(FANCD2):c.2496C>T (p.Val832=)
NM_001018115.3(FANCD2):c.2499C>T (p.Thr833=)
NM_001018115.3(FANCD2):c.249G>C (p.Leu83=) rs2086682680
NM_001018115.3(FANCD2):c.2502A>G (p.Pro834=)
NM_001018115.3(FANCD2):c.2507A>G (p.Tyr836Cys)
NM_001018115.3(FANCD2):c.2508T>C (p.Tyr836=)
NM_001018115.3(FANCD2):c.2511C>A (p.Val837=)
NM_001018115.3(FANCD2):c.2511C>G (p.Val837=)
NM_001018115.3(FANCD2):c.2514T>G (p.Pro838=)
NM_001018115.3(FANCD2):c.2544A>G (p.Leu848=)
NM_001018115.3(FANCD2):c.2555C>T (p.Pro852Leu) rs375827113
NM_001018115.3(FANCD2):c.2556T>C (p.Pro852=)
NM_001018115.3(FANCD2):c.2562T>C (p.Thr854=)
NM_001018115.3(FANCD2):c.2564_2569del (p.Val855_Thr856del) rs1693335762
NM_001018115.3(FANCD2):c.2581A>G (p.Lys861Glu) rs886057691
NM_001018115.3(FANCD2):c.2584A>C (p.Ile862Leu)
NM_001018115.3(FANCD2):c.2593A>C (p.Lys865Gln)
NM_001018115.3(FANCD2):c.259C>G (p.Pro87Ala)
NM_001018115.3(FANCD2):c.2605+12C>A
NM_001018115.3(FANCD2):c.2605+25_2605+29del rs1278623181
NM_001018115.3(FANCD2):c.2605+2dup rs2125048104
NM_001018115.3(FANCD2):c.2605+8T>C
NM_001018115.3(FANCD2):c.2605+9G>A
NM_001018115.3(FANCD2):c.2606-11del
NM_001018115.3(FANCD2):c.2606-12_2606-11del rs754006641
NM_001018115.3(FANCD2):c.2606-15T>C rs2125048406
NM_001018115.3(FANCD2):c.2606-16C>G
NM_001018115.3(FANCD2):c.2606-18C>T rs1693351182
NM_001018115.3(FANCD2):c.2606-9A>G
NM_001018115.3(FANCD2):c.2609G>T (p.Arg870Met)
NM_001018115.3(FANCD2):c.2610G>C (p.Arg870Ser)
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)
NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)
NM_001018115.3(FANCD2):c.2621C>G (p.Thr874Arg)
NM_001018115.3(FANCD2):c.2622A>G (p.Thr874=)
NM_001018115.3(FANCD2):c.2625T>C (p.Asp875=)
NM_001018115.3(FANCD2):c.2631C>G (p.Ser877Arg)
NM_001018115.3(FANCD2):c.2640C>G (p.Ser880=)
NM_001018115.3(FANCD2):c.2652A>G (p.Thr884=)
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs) rs762544228
NM_001018115.3(FANCD2):c.2667A>G (p.Lys889=)
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
NM_001018115.3(FANCD2):c.2683C>T (p.Pro895Ser) rs1693355244
NM_001018115.3(FANCD2):c.2687C>T (p.Thr896Met)
NM_001018115.3(FANCD2):c.2691A>C (p.Pro897=)
NM_001018115.3(FANCD2):c.2691A>G (p.Pro897=)
NM_001018115.3(FANCD2):c.2693C>G (p.Ser898Cys) rs1693356065
NM_001018115.3(FANCD2):c.2695C>T (p.His899Tyr)
NM_001018115.3(FANCD2):c.2697T>C (p.His899=)
NM_001018115.3(FANCD2):c.2705A>G (p.Gln902Arg) rs766865689
NM_001018115.3(FANCD2):c.2715+10T>G
NM_001018115.3(FANCD2):c.2715+11G>A
NM_001018115.3(FANCD2):c.2715+11G>T
NM_001018115.3(FANCD2):c.2715+16del
NM_001018115.3(FANCD2):c.2715+17T>G
NM_001018115.3(FANCD2):c.2716-12A>G
NM_001018115.3(FANCD2):c.2716-13G>A
NM_001018115.3(FANCD2):c.2716-9T>A
NM_001018115.3(FANCD2):c.2716-9T>G rs760325562
NM_001018115.3(FANCD2):c.271A>G (p.Lys91Glu)
NM_001018115.3(FANCD2):c.2724A>G (p.Thr908=)
NM_001018115.3(FANCD2):c.2725G>A (p.Gly909Arg)
NM_001018115.3(FANCD2):c.2727G>A (p.Gly909=)
NM_001018115.3(FANCD2):c.2728A>G (p.Lys910Glu) rs1693428697
NM_001018115.3(FANCD2):c.273+12del rs758809407
NM_001018115.3(FANCD2):c.273+15C>T
NM_001018115.3(FANCD2):c.2732A>G (p.Glu911Gly)
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
NM_001018115.3(FANCD2):c.2739G>A (p.Lys913=) rs2125050010
NM_001018115.3(FANCD2):c.274-11del
NM_001018115.3(FANCD2):c.274-14del
NM_001018115.3(FANCD2):c.274-6C>A
NM_001018115.3(FANCD2):c.274-9C>G
NM_001018115.3(FANCD2):c.274-9C>T
NM_001018115.3(FANCD2):c.2741CAT[1] (p.Ser915del)
NM_001018115.3(FANCD2):c.2742A>G (p.Thr914=)
NM_001018115.3(FANCD2):c.2745A>G (p.Ser915=)
NM_001018115.3(FANCD2):c.2753T>C (p.Leu918Pro)
NM_001018115.3(FANCD2):c.2757dup (p.Asn920Ter)
NM_001018115.3(FANCD2):c.2769T>C (p.Ala923=)
NM_001018115.3(FANCD2):c.2775_2776delinsTT (p.Arg926Ter) rs1693433379
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001018115.3(FANCD2):c.2777G>A (p.Arg926Gln)
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu) rs532250395
NM_001018115.3(FANCD2):c.2778_2779delinsGT (p.Glu927Ter)
NM_001018115.3(FANCD2):c.278T>C (p.Ile93Thr)
NM_001018115.3(FANCD2):c.2796C>T (p.Val932=)
NM_001018115.3(FANCD2):c.2799C>T (p.Phe933=)
NM_001018115.3(FANCD2):c.279A>G (p.Ile93Met) rs1559370542
NM_001018115.3(FANCD2):c.2803A>G (p.Ile935Val) rs61751578
NM_001018115.3(FANCD2):c.2809del (p.His937fs)
NM_001018115.3(FANCD2):c.280del (p.Glu94fs)
NM_001018115.3(FANCD2):c.2811T>C (p.His937=)
NM_001018115.3(FANCD2):c.2814T>C (p.Cys938=) rs2125050162
NM_001018115.3(FANCD2):c.2816G>C (p.Gly939Ala)
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_001018115.3(FANCD2):c.2833A>G (p.Ile945Val) rs1365150085
NM_001018115.3(FANCD2):c.2835dup (p.Asp947fs) rs1693439048
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.2859+11G>A
NM_001018115.3(FANCD2):c.2859+11G>T
NM_001018115.3(FANCD2):c.2859+12G>A rs2125050262
NM_001018115.3(FANCD2):c.2859+14T>G
NM_001018115.3(FANCD2):c.2859+19T>C
NM_001018115.3(FANCD2):c.285A>C (p.Glu95Asp)
NM_001018115.3(FANCD2):c.2860-10C>T
NM_001018115.3(FANCD2):c.2860-11C>T
NM_001018115.3(FANCD2):c.2860-4A>C rs2125054543
NM_001018115.3(FANCD2):c.2860-5G>A
NM_001018115.3(FANCD2):c.2860-8T>C
NM_001018115.3(FANCD2):c.2860G>T (p.Ala954Ser)
NM_001018115.3(FANCD2):c.2867_2869del (p.Glu956del) rs1693630743
NM_001018115.3(FANCD2):c.2869G>C (p.Val957Leu) rs762683227
NM_001018115.3(FANCD2):c.2882G>A (p.Gly961Glu)
NM_001018115.3(FANCD2):c.2886C>A (p.Pro962=)
NM_001018115.3(FANCD2):c.2886C>G (p.Pro962=)
NM_001018115.3(FANCD2):c.2886C>T (p.Pro962=)
NM_001018115.3(FANCD2):c.2889T>C (p.Pro963=)
NM_001018115.3(FANCD2):c.288T>C (p.Phe96=)
NM_001018115.3(FANCD2):c.2907G>A (p.Leu969=)
NM_001018115.3(FANCD2):c.2908G>C (p.Glu970Gln)
NM_001018115.3(FANCD2):c.2916C>T (p.Leu972=)
NM_001018115.3(FANCD2):c.2931G>A (p.Glu977=)
NM_001018115.3(FANCD2):c.2932A>T (p.Ser978Cys)
NM_001018115.3(FANCD2):c.2933G>A (p.Ser978Asn)
NM_001018115.3(FANCD2):c.2937G>A (p.Met979Ile) rs779245007
NM_001018115.3(FANCD2):c.2943A>T (p.Thr981=)
NM_001018115.3(FANCD2):c.2944C>T (p.Pro982Ser) rs1051740558
NM_001018115.3(FANCD2):c.2947C>T (p.Pro983Ser)
NM_001018115.3(FANCD2):c.294T>C (p.Ser98=)
NM_001018115.3(FANCD2):c.2955C>T (p.Ala985=)
NM_001018115.3(FANCD2):c.2958G>A (p.Arg986=)
NM_001018115.3(FANCD2):c.2959A>G (p.Arg987Gly)
NM_001018115.3(FANCD2):c.2961_2962del (p.Arg987fs)
NM_001018115.3(FANCD2):c.2967C>G (p.Pro989=) rs2125054748
NM_001018115.3(FANCD2):c.2967C>T (p.Pro989=)
NM_001018115.3(FANCD2):c.2971C>G (p.Leu991Val) rs1575817874
NM_001018115.3(FANCD2):c.2971C>T (p.Leu991Phe)
NM_001018115.3(FANCD2):c.2973C>G (p.Leu991=)
NM_001018115.3(FANCD2):c.2976+11G>A
NM_001018115.3(FANCD2):c.2976+12C>T
NM_001018115.3(FANCD2):c.2976+12del
NM_001018115.3(FANCD2):c.2976+15A>T rs2125054794
NM_001018115.3(FANCD2):c.2976+19A>G
NM_001018115.3(FANCD2):c.2976+19A>T
NM_001018115.3(FANCD2):c.2976+20T>C
NM_001018115.3(FANCD2):c.2976+23_2976+35del
NM_001018115.3(FANCD2):c.2976+7G>T
NM_001018115.3(FANCD2):c.298C>T (p.Leu100=)
NM_001018115.3(FANCD2):c.300G>A (p.Leu100=) rs2124975151
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs) rs2124975164
NM_001018115.3(FANCD2):c.308_312del (p.Ser102_Tyr103insTer)
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.334A>C (p.Asn112His) rs2086689020
NM_001018115.3(FANCD2):c.336C>T (p.Asn112=)
NM_001018115.3(FANCD2):c.347_351del (p.Leu115_Ser116insTer)
NM_001018115.3(FANCD2):c.348T>C (p.Ser116=)
NM_001018115.3(FANCD2):c.348T>G (p.Ser116=)
NM_001018115.3(FANCD2):c.350G>C (p.Cys117Ser)
NM_001018115.3(FANCD2):c.356G>C (p.Arg119Pro)
NM_001018115.3(FANCD2):c.361C>T (p.Gln121Ter)
NM_001018115.3(FANCD2):c.365A>C (p.Asp122Ala)
NM_001018115.3(FANCD2):c.377+6G>A
NM_001018115.3(FANCD2):c.378-1G>C
NM_001018115.3(FANCD2):c.378-3C>T rs74923817
NM_001018115.3(FANCD2):c.378-5T>C
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001018115.3(FANCD2):c.378-9T>A
NM_001018115.3(FANCD2):c.383G>A (p.Gly128Asp) rs760551106
NM_001018115.3(FANCD2):c.386C>T (p.Ala129Val)
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
NM_001018115.3(FANCD2):c.400_401del (p.Leu135fs)
NM_001018115.3(FANCD2):c.405C>T (p.Leu135=)
NM_001018115.3(FANCD2):c.412C>T (p.Leu138=)
NM_001018115.3(FANCD2):c.426T>A (p.Ile142=)
NM_001018115.3(FANCD2):c.438+7C>A
NM_001018115.3(FANCD2):c.438+8dup rs2124976192
NM_001018115.3(FANCD2):c.438+9G>A
NM_001018115.3(FANCD2):c.438+9_438+10del
NM_001018115.3(FANCD2):c.439-14G>T rs778758088
NM_001018115.3(FANCD2):c.439-16A>C
NM_001018115.3(FANCD2):c.439-17T>G
NM_001018115.3(FANCD2):c.439-18C>G
NM_001018115.3(FANCD2):c.444C>G (p.Ala148=) rs2124978509
NM_001018115.3(FANCD2):c.455C>A (p.Thr152Asn) rs150444770
NM_001018115.3(FANCD2):c.456C>T (p.Thr152=)
NM_001018115.3(FANCD2):c.458T>C (p.Leu153Ser)
NM_001018115.3(FANCD2):c.461T>G (p.Phe154Cys)
NM_001018115.3(FANCD2):c.473C>G (p.Pro158Arg) rs2124978557
NM_001018115.3(FANCD2):c.477A>G (p.Glu159=)
NM_001018115.3(FANCD2):c.481T>C (p.Phe161Leu)
NM_001018115.3(FANCD2):c.486T>G (p.Phe162Leu) rs2086730814
NM_001018115.3(FANCD2):c.491+10G>C rs17032279
NM_001018115.3(FANCD2):c.491+11T>C
NM_001018115.3(FANCD2):c.491+19G>A
NM_001018115.3(FANCD2):c.491+19G>C
NM_001018115.3(FANCD2):c.491+9C>T rs370232992
NM_001018115.3(FANCD2):c.492-13C>T
NM_001018115.3(FANCD2):c.492-7A>G
NM_001018115.3(FANCD2):c.492-8C>T
NM_001018115.3(FANCD2):c.498C>T (p.Asn166=)
NM_001018115.3(FANCD2):c.503A>G (p.Asp168Gly)
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) rs2086805219
NM_001018115.3(FANCD2):c.510C>T (p.Ile170=)
NM_001018115.3(FANCD2):c.519T>C (p.Pro173=)
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
NM_001018115.3(FANCD2):c.527T>C (p.Ile176Thr)
NM_001018115.3(FANCD2):c.531C>G (p.Val177=) rs747006885
NM_001018115.3(FANCD2):c.537A>G (p.Gln179=)
NM_001018115.3(FANCD2):c.550G>T (p.Asp184Tyr) rs2086806903
NM_001018115.3(FANCD2):c.551A>C (p.Asp184Ala)
NM_001018115.3(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_001018115.3(FANCD2):c.561G>A (p.Val187=)
NM_001018115.3(FANCD2):c.570+11G>A
NM_001018115.3(FANCD2):c.570+15T>C
NM_001018115.3(FANCD2):c.570+15T>G
NM_001018115.3(FANCD2):c.570+20C>G
NM_001018115.3(FANCD2):c.570+9A>G
NM_001018115.3(FANCD2):c.571-15T>A
NM_001018115.3(FANCD2):c.571-15T>C
NM_001018115.3(FANCD2):c.571-20A>C
NM_001018115.3(FANCD2):c.571-2A>G
NM_001018115.3(FANCD2):c.571-3C>G rs191386799
NM_001018115.3(FANCD2):c.571-4G>A
NM_001018115.3(FANCD2):c.571-4G>T
NM_001018115.3(FANCD2):c.571-9C>T
NM_001018115.3(FANCD2):c.571G>A (p.Asp191Asn) rs1257501671
NM_001018115.3(FANCD2):c.595C>T (p.Leu199=) rs756336462
NM_001018115.3(FANCD2):c.600C>T (p.Ile200=)
NM_001018115.3(FANCD2):c.604A>G (p.Ile202Val) rs2124985132
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro) rs769402896
NM_001018115.3(FANCD2):c.618C>T (p.Asn206=)
NM_001018115.3(FANCD2):c.633C>T (p.Ile211=)
NM_001018115.3(FANCD2):c.634A>G (p.Ile212Val) rs2124985240
NM_001018115.3(FANCD2):c.645A>G (p.Leu215=)
NM_001018115.3(FANCD2):c.65-17A>T
NM_001018115.3(FANCD2):c.65-1G>T
NM_001018115.3(FANCD2):c.65-20G>A
NM_001018115.3(FANCD2):c.65-2A>G
NM_001018115.3(FANCD2):c.65-8A>G
NM_001018115.3(FANCD2):c.654C>A (p.Ile218=)
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
NM_001018115.3(FANCD2):c.666C>T (p.Ser222=)
NM_001018115.3(FANCD2):c.667C>G (p.Gln223Glu) rs1307143430
NM_001018115.3(FANCD2):c.667C>T (p.Gln223Ter)
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
NM_001018115.3(FANCD2):c.673G>A (p.Ala225Thr)
NM_001018115.3(FANCD2):c.678T>C (p.Asp226=)
NM_001018115.3(FANCD2):c.687A>G (p.Lys229=)
NM_001018115.3(FANCD2):c.692T>G (p.Leu231Arg) rs2086819957
NM_001018115.3(FANCD2):c.694_695+14del
NM_001018115.3(FANCD2):c.694del (p.Ser232fs)
NM_001018115.3(FANCD2):c.695+11C>A
NM_001018115.3(FANCD2):c.695+12C>G
NM_001018115.3(FANCD2):c.695+12C>T
NM_001018115.3(FANCD2):c.695+1G>A
NM_001018115.3(FANCD2):c.695+2T>A
NM_001018115.3(FANCD2):c.695+5A>G
NM_001018115.3(FANCD2):c.695+6_695+11del rs2124985470
NM_001018115.3(FANCD2):c.695+8_695+9dup
NM_001018115.3(FANCD2):c.696-121C>G rs2086862509
NM_001018115.3(FANCD2):c.696-2A>T rs2086865333
NM_001018115.3(FANCD2):c.696-7T>C
NM_001018115.3(FANCD2):c.696-9C>T
NM_001018115.3(FANCD2):c.696T>C (p.Ser232=)
NM_001018115.3(FANCD2):c.700C>T (p.Leu234=)
NM_001018115.3(FANCD2):c.703C>T (p.Leu235=)
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs) rs2086865775
NM_001018115.3(FANCD2):c.70A>G (p.Arg24Gly) rs999832070
NM_001018115.3(FANCD2):c.714T>C (p.Asn238=)
NM_001018115.3(FANCD2):c.723C>T (p.Leu241=) rs1158546653
NM_001018115.3(FANCD2):c.723_737delinsTTCAAGCCTCCGACTTGACCCAAACTTCCTATTGAAGGTAGAAAAGCCTCCGACTGGATGTC (p.Thr242fs)
NM_001018115.3(FANCD2):c.733A>G (p.Ile245Val)
NM_001018115.3(FANCD2):c.736C>T (p.Leu246=)
NM_001018115.3(FANCD2):c.745C>T (p.Leu249Phe)
NM_001018115.3(FANCD2):c.74A>G (p.Lys25Arg)
NM_001018115.3(FANCD2):c.758G>A (p.Arg253Gln)
NM_001018115.3(FANCD2):c.769A>G (p.Asn257Asp)
NM_001018115.3(FANCD2):c.775del (p.Leu259fs) rs2124989402
NM_001018115.3(FANCD2):c.777A>C (p.Leu259=)
NM_001018115.3(FANCD2):c.777A>G (p.Leu259=)
NM_001018115.3(FANCD2):c.77A>C (p.Gln26Pro)
NM_001018115.3(FANCD2):c.783+13C>T
NM_001018115.3(FANCD2):c.783+16C>G
NM_001018115.3(FANCD2):c.783+16C>T
NM_001018115.3(FANCD2):c.783+6A>G
NM_001018115.3(FANCD2):c.783+7A>G
NM_001018115.3(FANCD2):c.784-12T>C
NM_001018115.3(FANCD2):c.784-3T>G rs2086891718
NM_001018115.3(FANCD2):c.784G>A (p.Val262Ile)
NM_001018115.3(FANCD2):c.787C>T (p.Arg263Cys)
NM_001018115.3(FANCD2):c.788G>A (p.Arg263His)
NM_001018115.3(FANCD2):c.796_798del (p.Val266del)
NM_001018115.3(FANCD2):c.798G>A (p.Val266=)
NM_001018115.3(FANCD2):c.799A>T (p.Met267Leu)
NM_001018115.3(FANCD2):c.803A>G (p.Asp268Gly)
NM_001018115.3(FANCD2):c.807G>C (p.Lys269Asn)
NM_001018115.3(FANCD2):c.810GTC[1] (p.Ser272del) rs748327074
NM_001018115.3(FANCD2):c.816T>A (p.Ser272=)
NM_001018115.3(FANCD2):c.81A>G (p.Pro27=)
NM_001018115.3(FANCD2):c.823T>C (p.Leu275=)
NM_001018115.3(FANCD2):c.831T>C (p.Asp277=)
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
NM_001018115.3(FANCD2):c.846A>C (p.Ile282=)
NM_001018115.3(FANCD2):c.848dup (p.Phe284fs)
NM_001018115.3(FANCD2):c.853A>G (p.Ile285Val) rs2124991389
NM_001018115.3(FANCD2):c.855T>C (p.Ile285=)
NM_001018115.3(FANCD2):c.875T>G (p.Met292Arg)
NM_001018115.3(FANCD2):c.888+10T>C
NM_001018115.3(FANCD2):c.888+12T>C
NM_001018115.3(FANCD2):c.888+13A>G
NM_001018115.3(FANCD2):c.888+16C>T
NM_001018115.3(FANCD2):c.888+1G>A
NM_001018115.3(FANCD2):c.888+20C>G
NM_001018115.3(FANCD2):c.888+3A>G
NM_001018115.3(FANCD2):c.888+9T>G rs777620616
NM_001018115.3(FANCD2):c.888G>A (p.Glu296=)
NM_001018115.3(FANCD2):c.889-20C>T
NM_001018115.3(FANCD2):c.889-2A>G
NM_001018115.3(FANCD2):c.889-7T>C rs2086903764
NM_001018115.3(FANCD2):c.897T>C (p.Ser299=) rs2124992189
NM_001018115.3(FANCD2):c.905G>A (p.Arg302Gln) rs755797932
NM_001018115.3(FANCD2):c.905G>C (p.Arg302Pro) rs755797932
NM_001018115.3(FANCD2):c.906G>A (p.Arg302=)
NM_001018115.3(FANCD2):c.919C>G (p.Leu307Val) rs1486958347
NM_001018115.3(FANCD2):c.923A>G (p.Gln308Arg)
NM_001018115.3(FANCD2):c.927T>C (p.His309=)
NM_001018115.3(FANCD2):c.929G>T (p.Cys310Phe) rs1251711461
NM_001018115.3(FANCD2):c.92del (p.Lys31fs) rs1378830983
NM_001018115.3(FANCD2):c.944G>A (p.Arg315Gln)
NM_001018115.3(FANCD2):c.945G>A (p.Arg315=) rs2124992319
NM_001018115.3(FANCD2):c.950A>G (p.Gln317Arg)
NM_001018115.3(FANCD2):c.952G>A (p.Ala318Thr)
NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_001018115.3(FANCD2):c.95C>T (p.Thr32Ile)
NM_001018115.3(FANCD2):c.962T>G (p.Val321Gly)
NM_001018115.3(FANCD2):c.967T>C (p.Leu323=)
NM_001018115.3(FANCD2):c.969G>A (p.Leu323=)
NM_001018115.3(FANCD2):c.973A>C (p.Ser325Arg) rs2124992404
NM_001018115.3(FANCD2):c.978A>C (p.Lys326Asn) rs200193941
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001018115.3(FANCD2):c.984A>G (p.Arg328=)
NM_001018115.3(FANCD2):c.989+11C>T
NM_001018115.3(FANCD2):c.989+3A>G
NM_001018115.3(FANCD2):c.98dup (p.Lys34fs)
NM_001018115.3(FANCD2):c.990-10C>A
NM_001018115.3(FANCD2):c.990-11G>T
NM_001018115.3(FANCD2):c.990-13C>T
NM_001018115.3(FANCD2):c.990-15C>T
NM_001018115.3(FANCD2):c.990-5T>C
NM_001018115.3(FANCD2):c.996A>C (p.Ser332=)
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_033084.6(FANCD2):c.2609_2613del

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