ClinVar Miner

List of variants in gene FANCA studied for abdominal and pelvic region disorder

Included ClinVar conditions (1030):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 901
Download table as spreadsheet
HGVS dbSNP
FANCA, IVS7DS, G-A, +5
NC_000016.10:g.(?_89744949)_(89767247_?)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.(?_89752138)_(89792547_?)del
NC_000016.10:g.(?_89758567)_(89762032_?)dup
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)_(89762032_?)del
NC_000016.10:g.(?_89761939)_(89765076_?)del
NC_000016.10:g.(?_89761939)_(89816616_?)del
NC_000016.10:g.(?_89764807)_(89773394_?)del
NC_000016.10:g.(?_89764807)_(89775825_?)del
NC_000016.10:g.(?_89764807)_(89779967_?)del
NC_000016.10:g.(?_89764807)_(89805402_?)del
NC_000016.10:g.(?_89764880)_(89773394_?)del
NC_000016.10:g.(?_89764884)_(89779963_?)del
NC_000016.10:g.(?_89767131)_(89784974_?)del
NC_000016.10:g.(?_89767131)_(89799648_?)del
NC_000016.10:g.(?_89775732)_(89808377_?)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)_(89784974_?)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)_(89799648_?)del
NC_000016.10:g.(?_89791393)_(89811081_?)del
NC_000016.10:g.(?_89791397)_(89792553_?)del
NC_000016.10:g.(?_89791403)_(89796018_?)del
NC_000016.10:g.(?_89795896)_(89805402_?)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.(?_89803249)_(89816625_?)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.(?_89814510)_(89816616_?)dup
NC_000016.10:g.(?_89814510)_(89816625_?)del
NC_000016.10:g.(?_89815867)_(89816625_?)del
NC_000016.10:g.89771677dup
NC_000016.10:g.89799166_89799169del
NC_000016.9:g.(?_89811357)_(89851382_?)dup
NC_000016.9:g.(?_89811367)_(89851372_?)dup
NC_000016.9:g.(?_89831292)_(89833651_?)del
NC_000016.9:g.(?_89864654)_(89866056_?)dup
NC_000016.9:g.89871693_89878808del
NG_011706.1:g.10587_63081del
NG_011706.1:g.13291_71928del
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs)
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1006+10G>A rs762536802
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1006+4G>C
NM_000135.4(FANCA):c.1007-3C>T
NM_000135.4(FANCA):c.1007-7C>G rs111271660
NM_000135.4(FANCA):c.1008A>G (p.Ala336=) rs1460026241
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys) rs374835951
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile)
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1033G>A (p.Glu345Lys)
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286
NM_000135.4(FANCA):c.1068C>G (p.Thr356=) rs1161525939
NM_000135.4(FANCA):c.1068C>T (p.Thr356=) rs1161525939
NM_000135.4(FANCA):c.106_108del (p.Asn36del) rs1598202748
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val) rs748337423
NM_000135.4(FANCA):c.1072C>T (p.Leu358=) rs748337423
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)
NM_000135.4(FANCA):c.1084-1G>A
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val)
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn) rs764286584
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr) rs1598152904
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe) rs982286482
NM_000135.4(FANCA):c.1115T>C (p.Val372Ala)
NM_000135.4(FANCA):c.1126C>G (p.Gln376Glu)
NM_000135.4(FANCA):c.1135C>T (p.Leu379=) rs969577700
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala)
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1145A>G (p.Gln382Arg)
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298
NM_000135.4(FANCA):c.1183G>A (p.Ala395Thr)
NM_000135.4(FANCA):c.1194C>T (p.Val398=) rs1158857420
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) rs1180493781
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1226-12G>C
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1226-4C>G
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr) rs912838333
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly) rs985078327
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile) rs747322973
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile) rs1598151907
NM_000135.4(FANCA):c.1289C>G (p.Ala430Gly)
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val) rs772567344
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1298T>C (p.Val433Ala)
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
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.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val) rs144234991
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys) rs142990858
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr)
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn)
NM_000135.4(FANCA):c.1348G>T (p.Asp450Tyr)
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1359+5G>C rs183569738
NM_000135.4(FANCA):c.135A>G (p.Glu45=) rs141820040
NM_000135.4(FANCA):c.1360-10C>G rs150836356
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.137C>T (p.Ser46Leu)
NM_000135.4(FANCA):c.1388A>G (p.His463Arg)
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr) rs1190475225
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg) rs1598140745
NM_000135.4(FANCA):c.1405G>T (p.Ala469Ser)
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753
NM_000135.4(FANCA):c.1417del (p.Leu473fs)
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) rs1337670144
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) rs761957732
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
NM_000135.4(FANCA):c.1438C>T (p.Leu480Phe)
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657
NM_000135.4(FANCA):c.1454C>T (p.Ser485Phe)
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp) rs143083764
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly) rs929925295
NM_000135.4(FANCA):c.1461G>A (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys) rs748907151
NM_000135.4(FANCA):c.1470+1G>A rs1555556175
NM_000135.4(FANCA):c.1470+2T>C
NM_000135.4(FANCA):c.1470G>C (p.Gln490His)
NM_000135.4(FANCA):c.1471-10C>G
NM_000135.4(FANCA):c.1471-12A>G rs9282684
NM_000135.4(FANCA):c.1471-3C>G rs1291307989
NM_000135.4(FANCA):c.1471-8A>G rs374717514
NM_000135.4(FANCA):c.1472_1566+1del rs1567628967
NM_000135.4(FANCA):c.1474_1475CA[1] (p.Ile493fs) rs1555554788
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe) rs1060501886
NM_000135.4(FANCA):c.1494G>C (p.Leu498=) rs747718961
NM_000135.4(FANCA):c.1500_1501delinsTA (p.Gly501Ser) rs1598136992
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) rs878853661
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.1536A>C (p.Ser512=) rs766580461
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn) rs754123446
NM_000135.4(FANCA):c.1558G>C (p.Asp520His) rs754123446
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu) rs1555554630
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1567-11C>A rs34353618
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.160C>T (p.His54Tyr)
NM_000135.4(FANCA):c.1614G>A (p.Gly538=) rs747421581
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn)
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.1627-4C>A rs201163548
NM_000135.4(FANCA):c.1628C>T (p.Pro543Leu)
NM_000135.4(FANCA):c.1630dup (p.His544fs) rs1598129626
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
NM_000135.4(FANCA):c.1651G>A (p.Val551Ile)
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) rs753229112
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr) rs769842591
NM_000135.4(FANCA):c.1695A>T (p.Pro565=) rs139181196
NM_000135.4(FANCA):c.169C>T (p.Leu57=) rs368828271
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser)
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile)
NM_000135.4(FANCA):c.1702G>C (p.Val568Leu)
NM_000135.4(FANCA):c.1710G>A (p.Glu570=) rs17226344
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1716-3C>T
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val) rs145459403
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769
NM_000135.4(FANCA):c.1776+10C>T rs767506133
NM_000135.4(FANCA):c.1776+1G>A rs756140957
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-15C>G rs371919426
NM_000135.4(FANCA):c.1777-1G>C rs755104393
NM_000135.4(FANCA):c.1781C>A (p.Pro594His)
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) rs1060501885
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys) rs562319781
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser) rs766939940
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1812_1813AG[1] (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter)
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu)
NM_000135.4(FANCA):c.1824dup (p.Arg609fs) rs1598127082
NM_000135.4(FANCA):c.1826+12C>T rs183513839
NM_000135.4(FANCA):c.1826+15T>C rs1800337
NM_000135.4(FANCA):c.1826+2T>A
NM_000135.4(FANCA):c.1826+4T>A
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.1827-5T>A
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser) rs1567623107
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.1860C>A (p.Thr620=) rs1041601770
NM_000135.4(FANCA):c.186T>A (p.Leu62=) rs1555580352
NM_000135.4(FANCA):c.1870G>T (p.Ala624Ser)
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000
NM_000135.4(FANCA):c.1872C>A (p.Ala624=) rs571449307
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr) rs139235751
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)
NM_000135.4(FANCA):c.189+12C>G rs753101174
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2A>T rs183350210
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1900+7T>A rs377401016
NM_000135.4(FANCA):c.1901-10C>T rs766654290
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly)
NM_000135.4(FANCA):c.1902T>G (p.Asp634Glu)
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479
NM_000135.4(FANCA):c.1906G>C (p.Ala636Pro)
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr)
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
NM_000135.4(FANCA):c.1971G>T (p.Leu657=) rs1343452026
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2015-1G>A rs1555548632
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2015-5C>T rs780349960
NM_000135.4(FANCA):c.2015-8del rs1567619964
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) rs376888740
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp) rs777863668
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro)
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg) rs55692229
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val) rs1555548507
NM_000135.4(FANCA):c.2111T>A (p.Leu704His)
NM_000135.4(FANCA):c.2124G>A (p.Thr708=) rs201668358
NM_000135.4(FANCA):c.2129G>T (p.Arg710Ile)
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys) rs774565293
NM_000135.4(FANCA):c.213A>T (p.Lys71Asn)
NM_000135.4(FANCA):c.2144A>T (p.Glu715Val)
NM_000135.4(FANCA):c.2147A>G (p.His716Arg)
NM_000135.4(FANCA):c.2149A>G (p.Met717Val) rs766173155
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2151+4G>A rs1598113342
NM_000135.4(FANCA):c.2151+8T>C rs1800340
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2152-10G>C rs557705265
NM_000135.4(FANCA):c.2152-13T>C
NM_000135.4(FANCA):c.2164_2166CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu)
NM_000135.4(FANCA):c.217_218TC[2] (p.Leu74fs)
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485
NM_000135.4(FANCA):c.2209G>A (p.Ala737Thr)
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598
NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr)
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2222+7G>A rs374312736
NM_000135.4(FANCA):c.2222+9G>A rs774316742
NM_000135.4(FANCA):c.2222+9G>C rs774316742
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr) rs931143821
NM_000135.4(FANCA):c.2248G>A (p.Val750Met) rs747723074
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu)
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln)
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414
NM_000135.4(FANCA):c.2305C>G (p.Leu769Val)
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe) rs917707717
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.2316+9C>G rs776301232
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2317-1G>T rs1230207719
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.2317-8C>T rs753766357
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451
NM_000135.4(FANCA):c.2341G>T (p.Val781Leu)
NM_000135.4(FANCA):c.2345T>G (p.Leu782Arg)
NM_000135.4(FANCA):c.2364C>A (p.Ala788=)
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397
NM_000135.4(FANCA):c.2368C>G (p.His790Asp)
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.2376T>C (p.Gly792=) rs756138062
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2402T>A (p.Val801Glu)
NM_000135.4(FANCA):c.2407G>A (p.Val803Met)
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser) rs1359572434
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2435T>G (p.Leu812Arg)
NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser)
NM_000135.4(FANCA):c.2450T>A (p.Leu817His)
NM_000135.4(FANCA):c.2456A>T (p.Asp819Val)
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr) rs1459045387
NM_000135.4(FANCA):c.2467A>T (p.Thr823Ser)
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys)
NM_000135.4(FANCA):c.2478G>A (p.Thr826=) rs147283549
NM_000135.4(FANCA):c.2492_2494TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2502G>A (p.Leu834=) rs770993950
NM_000135.4(FANCA):c.2504+6C>G
NM_000135.4(FANCA):c.2504+8C>A rs529177917
NM_000135.4(FANCA):c.2504A>C (p.Lys835Thr)
NM_000135.4(FANCA):c.2505A>G (p.Lys835=) rs1555546563
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr) rs142869950
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys) rs1567616244
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529_2530CT[2] (p.Leu845fs) rs763378933
NM_000135.4(FANCA):c.2529_2530CT[3] (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.255C>A (p.Ala85=) rs780353222
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser)
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser) rs1331781220
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
NM_000135.4(FANCA):c.2601+1G>T rs1188581065
NM_000135.4(FANCA):c.2601+9A>T rs771837383
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2602-10T>C rs899604473
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)
NM_000135.4(FANCA):c.2611C>G (p.Leu871Val)
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
NM_000135.4(FANCA):c.262A>T (p.Asn88Tyr)
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.4(FANCA):c.2651C>G (p.Ser884Cys)
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) rs746125523
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn) rs1055448646
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)
NM_000135.4(FANCA):c.2716G>A (p.Ala906Thr)
NM_000135.4(FANCA):c.2722_2723CT[4] (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2728C>G (p.Leu910Val)
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) rs1216426444
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro)
NM_000135.4(FANCA):c.2735_2736CA[2] (p.His913fs) rs1186669727
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr) rs748454613
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile) rs879255255
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2778+1G>A rs140180549
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His) rs1567612427
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.2800C>A (p.His934Asn) rs774871582
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln)
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val) rs1598096962
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp) rs1217883878
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.284-1G>C
NM_000135.4(FANCA):c.284-9G>A rs367672895
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821
NM_000135.4(FANCA):c.2851C>A (p.Arg951=) rs755546887
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+12A>T
NM_000135.4(FANCA):c.2852+2T>G rs766875860
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-2A>C rs947311062
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871
NM_000135.4(FANCA):c.2904G>A (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer) rs1598191053
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr)
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser) rs752735858
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883
NM_000135.4(FANCA):c.2975A>T (p.His992Leu) rs184007986
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2981+4dup rs75004096
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) rs1555540048
NM_000135.4(FANCA):c.2995G>C (p.Asp999His)
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982
NM_000135.4(FANCA):c.301C>G (p.Gln101Glu) rs140412064
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His) rs200022826
NM_000135.4(FANCA):c.303A>G (p.Gln101=) rs199552612
NM_000135.4(FANCA):c.3047A>G (p.Asp1016Gly)
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp) rs891626452
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3066+3_3066+9delinsCC
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=) rs35402142
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser) rs773260958
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala) rs954683462
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His) rs371351450
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3173C>T (p.Ala1058Val)
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val)
NM_000135.4(FANCA):c.3179C>G (p.Thr1060Arg)
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg)
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu) rs140124051
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro)
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) rs1419279017
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071
NM_000135.4(FANCA):c.319del (p.Val107fs)
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg)
NM_000135.4(FANCA):c.3215A>G (p.Gln1072Arg)
NM_000135.4(FANCA):c.3223C>T (p.Leu1075=) rs751987951
NM_000135.4(FANCA):c.3226C>G (p.Leu1076Val)
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys) rs776603588
NM_000135.4(FANCA):c.3231G>A (p.Met1077Ile)
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3240-1G>A
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.3241_3626+1del
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057
NM_000135.4(FANCA):c.324C>T (p.Pro108=) rs775822054
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His) rs752642945
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
NM_000135.4(FANCA):c.3281G>C (p.Ser1094Thr)
NM_000135.4(FANCA):c.3287A>G (p.Gln1096Arg)
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His) rs1433848980
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000135.4(FANCA):c.3349-2A>G
NM_000135.4(FANCA):c.3349-3C>T rs373861415
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro) rs977982480
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109
NM_000135.4(FANCA):c.3388A>G (p.Ile1130Val)
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu)
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3397del (p.His1133fs)
NM_000135.4(FANCA):c.3400_3402TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3408+9C>G rs377702890
NM_000135.4(FANCA):c.3409-6C>G rs377428227
NM_000135.4(FANCA):c.3409-6C>T rs377428227
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3412C>T (p.Leu1138Phe)
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg) rs1188842855
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
NM_000135.4(FANCA):c.342C>T (p.Ala114=) rs777989691
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=) rs371464360
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro) rs1598070682
NM_000135.4(FANCA):c.3513+1G>A
NM_000135.4(FANCA):c.3513+4G>C
NM_000135.4(FANCA):c.3514-13G>A rs200270574
NM_000135.4(FANCA):c.3514-4A>G rs149388130
NM_000135.4(FANCA):c.3517_3519TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter) rs1598067532
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571
NM_000135.4(FANCA):c.353C>T (p.Ala118Val) rs1201642328
NM_000135.4(FANCA):c.3542T>G (p.Leu1181Arg)
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp) rs201492940
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.4(FANCA):c.3552G>A (p.Arg1184=) rs774029286
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3569A>G (p.Gln1190Arg)
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3583C>G (p.Arg1195Gly)
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3605_3606delinsGC (p.Glu1202Gly)
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) rs1555536361
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln) rs770622823
NM_000135.4(FANCA):c.361G>A (p.Val121Met) rs780035612
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn) rs1351484293
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile) rs1351484293
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.3626+1G>C
NM_000135.4(FANCA):c.3626+1G>T rs34885858
NM_000135.4(FANCA):c.3626+4C>T rs772166806
NM_000135.4(FANCA):c.3626+7G>A rs933657325
NM_000135.4(FANCA):c.3627-1G>C
NM_000135.4(FANCA):c.3627-7G>C rs1161905441
NM_000135.4(FANCA):c.3627-8T>G rs77877981
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp) rs199601218
NM_000135.4(FANCA):c.3650C>G (p.Ser1217Cys)
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser) rs1555535564
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser) rs773150877
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=) rs780031277
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=) rs187074190
NM_000135.4(FANCA):c.3682G>A (p.Ala1228Thr)
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly) rs1465548673
NM_000135.4(FANCA):c.3693C>T (p.His1231=) rs144524132
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.3699G>A (p.Ala1233=) rs371798854
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val) rs1598063117
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783
NM_000135.4(FANCA):c.3703_3705CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3711C>G (p.Val1237=) rs776879032
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) rs202107465
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.372C>G (p.Ile124Met)
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) rs1555535472
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu)
NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln)
NM_000135.4(FANCA):c.3755_3756AG[3] (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3755_3756AG[5] (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.375C>T (p.Cys125=) rs199793463
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229
NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala)
NM_000135.4(FANCA):c.3765+2C>T
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.378G>A (p.Thr126=) rs544680245
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130
NM_000135.4(FANCA):c.387G>A (p.Ala129=) rs1181727153
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg)
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097
NM_000135.4(FANCA):c.39G>C (p.Gln13His)
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.414_415TG[1] (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754
NM_000135.4(FANCA):c.423G>A (p.Gln141=) rs1598190596
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000135.4(FANCA):c.427_428delinsTG (p.Lys143Trp)
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783
NM_000135.4(FANCA):c.447dup (p.Glu150fs)
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly) rs770716257
NM_000135.4(FANCA):c.47G>A (p.Gly16Glu)
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys)
NM_000135.4(FANCA):c.488G>A (p.Arg163His)
NM_000135.4(FANCA):c.493T>A (p.Ser165Thr)
NM_000135.4(FANCA):c.499T>C (p.Cys167Arg)
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys)
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.513dup (p.Lys172fs) rs1555574913
NM_000135.4(FANCA):c.522+1G>T rs1365019056
NM_000135.4(FANCA):c.522+9G>C rs113051956
NM_000135.4(FANCA):c.523-19GTTTT[2] rs755643283
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151
NM_000135.4(FANCA):c.537T>G (p.Leu179=) rs749811331
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu) rs17232246
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val) rs1598184528
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367
NM_000135.4(FANCA):c.545T>C (p.Val182Ala)
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter) rs1598184500
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996
NM_000135.4(FANCA):c.561A>G (p.Val187=) rs1050053060
NM_000135.4(FANCA):c.564A>G (p.Gln188=)
NM_000135.4(FANCA):c.571G>T (p.Val191Leu) rs1429483489
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro) rs886052488
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.596+4G>A
NM_000135.4(FANCA):c.596+5C>T rs758345423
NM_000135.4(FANCA):c.596+6G>A rs369548513
NM_000135.4(FANCA):c.597-1G>C rs147945881
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.603C>T (p.Pro201=) rs542064386
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)
NM_000135.4(FANCA):c.60G>A (p.Arg20=) rs1321607523
NM_000135.4(FANCA):c.610C>G (p.His204Asp)
NM_000135.4(FANCA):c.614C>G (p.Ala205Gly)
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys) rs1018067067
NM_000135.4(FANCA):c.634A>C (p.Arg212=) rs754839730
NM_000135.4(FANCA):c.641_642TG[1] (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.660G>C (p.Gln220His) rs1555571174
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
NM_000135.4(FANCA):c.667G>A (p.Ala223Thr)
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu) rs1598177148
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748
NM_000135.4(FANCA):c.687C>T (p.Asp229=) rs1598177104
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.68C>G (p.Ala23Gly)
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr) rs746814384
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000135.4(FANCA):c.700A>G (p.Met234Val) rs1042676101
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) rs145869646
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe)
NM_000135.4(FANCA):c.709+1G>C rs753211631
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.70G>T (p.Glu24Ter)
NM_000135.4(FANCA):c.710-12A>G rs1800286
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.710-5T>C
NM_000135.4(FANCA):c.710-9G>A rs772864817
NM_000135.4(FANCA):c.718C>G (p.Gln240Glu)
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys) rs760744752
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn) rs111944585
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.761_763GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.765A>C (p.Arg255Ser)
NM_000135.4(FANCA):c.769G>A (p.Val257Met) rs777311234
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala)
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys) rs201992220
NM_000135.4(FANCA):c.79+1G>A
NM_000135.4(FANCA):c.79+1G>C rs1483028018
NM_000135.4(FANCA):c.79+4G>C
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.793-1G>C
NM_000135.4(FANCA):c.793-3C>G rs749688050
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000135.4(FANCA):c.80-13C>T rs189841793
NM_000135.4(FANCA):c.80-1G>T rs751076878
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro) rs762721928
NM_000135.4(FANCA):c.813G>C (p.Gln271His) rs773057753
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726
NM_000135.4(FANCA):c.826+10T>C rs536052530
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_000135.4(FANCA):c.827-1G>C rs753728435
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr) rs1555566625
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr) rs1010833101
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)
NM_000135.4(FANCA):c.856C>G (p.Gln286Glu)
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960
NM_000135.4(FANCA):c.86G>T (p.Arg29Met) rs764561391
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr) rs1555566545
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr) rs878853667
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447
NM_000135.4(FANCA):c.88G>A (p.Val30Ile)
NM_000135.4(FANCA):c.88G>T (p.Val30Phe)
NM_000135.4(FANCA):c.894-10G>A rs751912856
NM_000135.4(FANCA):c.894-2A>G rs976556567
NM_000135.4(FANCA):c.894-8A>G rs11648881
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu) rs765341703
NM_000135.4(FANCA):c.897C>T (p.Phe299=) rs765341703
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) rs1060501877
NM_000135.4(FANCA):c.90C>G (p.Val30=) rs532713581
NM_000135.4(FANCA):c.910G>C (p.Gly304Arg)
NM_000135.4(FANCA):c.911G>C (p.Gly304Ala)
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)
NM_000135.4(FANCA):c.918G>A (p.Thr306=) rs199634699
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
NM_000135.4(FANCA):c.924C>T (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn) rs759630319
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
NM_000135.4(FANCA):c.948G>A (p.Leu316=) rs767146506
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr) rs770984577
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.982C>G (p.Leu328Val)
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000135.4(FANCA):c.989_995del (p.His330fs) rs1555564451
Single allele

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