NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)
|
rs773159223
|
0.00002
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)
|
rs772858764
|
0.00001
|
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
|
rs755018069
|
0.00001
|
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter)
|
rs769718381
|
0.00001
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
|
rs779745863
|
0.00001
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
NM_000135.4(FANCA):c.184del (p.Glu63fs)
|
rs1260966020
|
0.00001
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)
|
rs2039278551
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
|
rs779480428
|
0.00001
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.793-3C>G
|
rs749688050
|
0.00001
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
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)_(89808377_?)del
|
|
|
NC_000016.10:g.(?_89758567)_(89784974_?)del
|
|
|
NC_000016.10:g.(?_89758567)_(89808377_?)del
|
|
|
NC_000016.10:g.(?_89761939)_(89765076_?)del
|
|
|
NC_000016.10:g.(?_89761939)_(89816616_?)del
|
|
|
NC_000016.10:g.(?_89764807)_(89775825_?)del
|
|
|
NC_000016.10:g.(?_89767131)_(89784974_?)del
|
|
|
NC_000016.10:g.(?_89767131)_(89799648_?)del
|
|
|
NC_000016.10:g.(?_89775736)_(89775821_?)del
|
|
|
NC_000016.10:g.(?_89778791)_(89779967_?)del
|
|
|
NC_000016.10:g.(?_89778791)_(89816625_?)del
|
|
|
NC_000016.10:g.(?_89782849)_(89796028_?)del
|
|
|
NC_000016.10:g.(?_89782853)_(89784970_?)del
|
|
|
NC_000016.10:g.(?_89784844)_(89784974_?)del
|
|
|
NC_000016.10:g.(?_89791393)_(89796028_?)del
|
|
|
NC_000016.10:g.(?_89791393)_(89811081_?)del
|
|
|
NC_000016.10:g.(?_89791397)_(89792553_?)del
|
|
|
NC_000016.10:g.(?_89791403)_(89796018_?)del
|
|
|
NC_000016.10:g.(?_89798246)_(89799648_?)del
|
|
|
NC_000016.10:g.(?_89799156)_(89799648_?)del
|
|
|
NC_000016.10:g.(?_89803249)_(89808377_?)del
|
|
|
NC_000016.10:g.(?_89803249)_(89811081_?)del
|
|
|
NC_000016.10:g.(?_89808284)_(89816616_?)del
|
|
|
NC_000016.10:g.(?_89808284)_(89816625_?)del
|
|
|
NC_000016.10:g.(?_89810697)_(89816616_?)del
|
|
|
NC_000016.10:g.(?_89814510)_(89816625_?)del
|
|
|
NC_000016.10:g.(?_89815867)_(89816625_?)del
|
|
|
NC_000016.10:g.89746689dup
|
|
|
NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
|
|
|
NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
|
|
|
NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
|
|
|
NC_000016.9:g.(89877480_89880927)_(89883066_?)del
|
|
|
NC_000016.9:g.(?_89809188)_(89846385_?)del
|
|
|
NC_000016.9:g.(?_89809198)_(89809356_?)del
|
|
|
NC_000016.9:g.(?_89809198)_(89833655_?)del
|
|
|
NC_000016.9:g.(?_89809198)_(89842233_?)del
|
|
|
NC_000016.9:g.(?_89811347)_(89849530_?)del
|
|
|
NC_000016.9:g.(?_89811357)_(89815185_?)del
|
|
|
NC_000016.9:g.(?_89811357)_(89842233_?)del
|
|
|
NC_000016.9:g.(?_89815047)_(89816330_?)del
|
|
|
NC_000016.9:g.(?_89815049)_(89883033_?)del
|
|
|
NC_000016.9:g.(?_89816056)_(89816320_?)del
|
|
|
NC_000016.9:g.(?_89816056)_(89849520_?)del
|
|
|
NC_000016.9:g.(?_89818526)_(89874795_?)del
|
|
|
NC_000016.9:g.(?_89818536)_(89818822_?)del
|
|
|
NC_000016.9:g.(?_89818536)_(89825128_?)del
|
|
|
NC_000016.9:g.(?_89818536)_(89839802_?)del
|
|
|
NC_000016.9:g.(?_89818536)_(89846375_?)del
|
|
|
NC_000016.9:g.(?_89818536)_(89877489_?)del
|
|
|
NC_000016.9:g.(?_89824965)_(89825133_?)del
|
|
|
NC_000016.9:g.(?_89824975)_(89828440_?)del
|
|
|
NC_000016.9:g.(?_89824975)_(89839802_?)del
|
|
|
NC_000016.9:g.(?_89824975)_(89842233_?)del
|
|
|
NC_000016.9:g.(?_89824975)_(89883033_?)del
|
|
|
NC_000016.9:g.(?_89828347)_(89839802_?)del
|
|
|
NC_000016.9:g.(?_89828347)_(89842233_?)del
|
|
|
NC_000016.9:g.(?_89828347)_(89862436_?)del
|
|
|
NC_000016.9:g.(?_89828347)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89831215)_(89831494_?)del
|
|
|
NC_000016.9:g.(?_89831215)_(89849520_?)del
|
|
|
NC_000016.9:g.(?_89831292)_(89833651_?)del
|
|
|
NC_000016.9:g.(?_89833539)_(89833655_?)del
|
|
|
NC_000016.9:g.(?_89833539)_(89839802_?)del
|
|
|
NC_000016.9:g.(?_89833539)_(89842233_?)del
|
|
|
NC_000016.9:g.(?_89833539)_(89858965_?)del
|
|
|
NC_000016.9:g.(?_89833539)_(89862436_?)del
|
|
|
NC_000016.9:g.(?_89836111)_(89839802_?)del
|
|
|
NC_000016.9:g.(?_89836111)_(89858965_?)del
|
|
|
NC_000016.9:g.(?_89836111)_(89883033_?)del
|
|
|
NC_000016.9:g.(?_89836805)_(89883033_?)del
|
|
|
NC_000016.9:g.(?_89836962)_(89838232_?)del
|
|
|
NC_000016.9:g.(?_89838076)_(89842233_?)del
|
|
|
NC_000016.9:g.(?_89838076)_(89858965_?)del
|
|
|
NC_000016.9:g.(?_89838076)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89838076)_(89883033_?)del
|
|
|
NC_000016.9:g.(?_89839659)_(89851392_?)del
|
|
|
NC_000016.9:g.(?_89839669)_(89866056_?)del
|
|
|
NC_000016.9:g.(?_89842140)_(89842233_?)del
|
|
|
NC_000016.9:g.(?_89842140)_(89845421_?)del
|
|
|
NC_000016.9:g.(?_89842140)_(89846375_?)del
|
|
|
NC_000016.9:g.(?_89842140)_(89851382_?)del
|
|
|
NC_000016.9:g.(?_89842140)_(89866056_?)del
|
|
|
NC_000016.9:g.(?_89845199)_(89849520_?)del
|
|
|
NC_000016.9:g.(?_89845199)_(89866056_?)del
|
|
|
NC_000016.9:g.(?_89845199)_(89871810_?)del
|
|
|
NC_000016.9:g.(?_89845199)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89846267)_(89883024_?)del
|
|
|
NC_000016.9:g.(?_89849247)_(89866066_?)del
|
|
|
NC_000016.9:g.(?_89849257)_(89871810_?)del
|
|
|
NC_000016.9:g.(?_89849257)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89857801)_(89858965_?)del
|
|
|
NC_000016.9:g.(?_89857801)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89862294)_(89883023_?)del
|
|
|
NC_000016.9:g.(?_89862304)_(89866056_?)del
|
|
|
NC_000016.9:g.(?_89862304)_(89869759_?)del
|
|
|
NC_000016.9:g.(?_89864654)_(89883024_?)del
|
|
|
NC_000016.9:g.(?_89864654)_(89883033_?)del
|
|
|
NC_000016.9:g.(?_89869657)_(89871810_?)del
|
|
|
NC_000016.9:g.(?_89871678)_(89877489_?)del
|
|
|
NC_000016.9:g.(?_89874692)_(89881031_?)del
|
|
|
NC_000016.9:g.(?_89877105)_(89877489_?)del
|
|
|
NC_000016.9:g.(?_89880908)_(89883023_?)del
|
|
|
NC_000016.9:g.(?_89880918)_(89881031_?)del
|
|
|
NM_000135.2:c.522+715_2852+656del
|
|
|
NM_000135.4(FANCA):c.1007-1G>A
|
|
|
NM_000135.4(FANCA):c.102dup (p.Tyr35fs)
|
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1034_1040del (p.Glu345fs)
|
rs2143534611
|
|
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)
|
|
|
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter)
|
rs773687142
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1084-1G>A
|
rs2040094761
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)
|
|
|
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)
|
rs2040092520
|
|
NM_000135.4(FANCA):c.1147del (p.Glu383fs)
|
rs2040092247
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs)
|
rs2143529729
|
|
NM_000135.4(FANCA):c.118dup (p.Ala40fs)
|
rs2143724113
|
|
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
|
rs2040090995
|
|
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
|
rs2040090741
|
|
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)
|
|
|
NM_000135.4(FANCA):c.1226-1G>C
|
rs1417768931
|
|
NM_000135.4(FANCA):c.1259del (p.Glu420fs)
|
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)
|
rs2040074214
|
|
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
|
rs2040073991
|
|
NM_000135.4(FANCA):c.1339del (p.Ser447fs)
|
rs2143525756
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000135.4(FANCA):c.1343_1344del (p.Tyr448fs)
|
rs2143525701
|
|
NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter)
|
rs1199670660
|
|
NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter)
|
rs2143525603
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)
|
rs1438828232
|
|
NM_000135.4(FANCA):c.137C>G (p.Ser46Ter)
|
rs2041098068
|
|
NM_000135.4(FANCA):c.1417del (p.Leu473fs)
|
rs2039846326
|
|
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
|
rs1432415523
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
NM_000135.4(FANCA):c.1472_1566+1del
|
rs1567628967
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
|
|
|
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
|
|
|
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)
|
|
|
NM_000135.4(FANCA):c.1590_1591del (p.Tyr531fs)
|
rs2143459144
|
|
NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter)
|
rs762342197
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
NM_000135.4(FANCA):c.1615dup (p.Asp539fs)
|
|
|
NM_000135.4(FANCA):c.1630dup (p.His544fs)
|
rs1598129626
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)
|
rs2041096125
|
|
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)
|
|
|
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
|
|
|
NM_000135.4(FANCA):c.1750del (p.Leu584fs)
|
rs2143424348
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)
|
rs759899153
|
|
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs)
|
rs2143422286
|
|
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter)
|
rs2039604081
|
|
NM_000135.4(FANCA):c.1824dup (p.Arg609fs)
|
rs1598127082
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter)
|
rs747994845
|
|
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)
|
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.190-2A>G
|
|
|
NM_000135.4(FANCA):c.1900+1del
|
|
|
NM_000135.4(FANCA):c.1948dup (p.Leu650fs)
|
|
|
NM_000135.4(FANCA):c.1953del (p.Gln652fs)
|
|
|
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter)
|
rs1060501878
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)
|
rs2039386741
|
|
NM_000135.4(FANCA):c.200del (p.Pro67fs)
|
|
|
NM_000135.4(FANCA):c.2014+1del
|
rs2143366415
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs)
|
rs2143351554
|
|
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
|
|
|
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs)
|
rs2143351188
|
|
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
|
rs941660593
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)
|
rs781436006
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
|
|
|
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs)
|
rs1394491958
|
|
NM_000135.4(FANCA):c.221_222del (p.Leu74fs)
|
rs2041026878
|
|
NM_000135.4(FANCA):c.2242del (p.Leu748fs)
|
rs2143336491
|
|
NM_000135.4(FANCA):c.2244del (p.Phe749fs)
|
rs2143336461
|
|
NM_000135.4(FANCA):c.2253dup (p.Thr752fs)
|
rs2143336354
|
|
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs)
|
|
|
NM_000135.4(FANCA):c.2265dup (p.Arg756fs)
|
rs2143336220
|
|
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)
|
rs751572448
|
|
NM_000135.4(FANCA):c.2293del (p.Leu765fs)
|
|
|
NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter)
|
rs947786901
|
|
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
|
rs761725308
|
|
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)
|
rs2041026343
|
|
NM_000135.4(FANCA):c.2368del (p.His790fs)
|
rs2143333169
|
|
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
|
rs1336033143
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
|
|
|
NM_000135.4(FANCA):c.2482dup (p.Asp828fs)
|
rs2143331597
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.2546del (p.Ser849fs)
|
rs1060501876
|
|
NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter)
|
rs1406289451
|
|
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
|
rs761469030
|
|
NM_000135.4(FANCA):c.2563dup (p.Thr855fs)
|
|
|
NM_000135.4(FANCA):c.2564del (p.Thr855fs)
|
rs2143308216
|
|
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
|
|
|
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs)
|
rs1567616135
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
|
rs2039156731
|
|
NM_000135.4(FANCA):c.2707dup (p.Trp903fs)
|
rs1225564406
|
|
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)
|
rs1354272260
|
|
NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)
|
|
|
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)
|
rs2039076227
|
|
NM_000135.4(FANCA):c.2717del (p.Ala906fs)
|
rs2143288542
|
|
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)
|
rs878853663
|
|
NM_000135.4(FANCA):c.2739_2740del (p.His913fs)
|
rs1186669727
|
|
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)
|
rs1060501880
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
NM_000135.4(FANCA):c.2778+1G>C
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.279del (p.Phe93fs)
|
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+2T>C
|
|
|
NM_000135.4(FANCA):c.283+2T>G
|
|
|
NM_000135.4(FANCA):c.283+3A>C
|
rs786204204
|
|
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs)
|
|
|
NM_000135.4(FANCA):c.2832dup (p.Ala945fs)
|
rs2143260759
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
NM_000135.4(FANCA):c.284-1328_705del
|
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)
|
rs927630499
|
|
NM_000135.4(FANCA):c.2885_2888dup (p.Phe963fs)
|
|
|
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs)
|
|
|
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter)
|
rs1192724266
|
|
NM_000135.4(FANCA):c.291_295del (p.Leu98fs)
|
|
|
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs)
|
|
|
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
|
|
|
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
|
rs1598191053
|
|
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
|
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)
|
|
|
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs)
|
rs2143163813
|
|
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
|
|
|
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)
|
rs2143163267
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter)
|
rs1555538740
|
|
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter)
|
rs1270910813
|
|
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs)
|
rs2143139284
|
|
NM_000135.4(FANCA):c.3116del (p.Gly1039fs)
|
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs)
|
rs2143139061
|
|
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs)
|
rs2143138748
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3164_3179del (p.Arg1055fs)
|
|
|
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter)
|
rs373545111
|
|
NM_000135.4(FANCA):c.3169del (p.Gln1057fs)
|
rs2143138814
|
|
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs)
|
|
|
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs)
|
|
|
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)
|
rs1166286386
|
|
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)
|
rs776391208
|
|
NM_000135.4(FANCA):c.319del (p.Val107fs)
|
rs1411237340
|
|
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs)
|
rs2143138138
|
|
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)
|
rs764030196
|
|
NM_000135.4(FANCA):c.3239+1G>A
|
rs2143137762
|
|
NM_000135.4(FANCA):c.3239+1dup
|
rs766989857
|
|
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs)
|
rs2143128346
|
|
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)
|
|
|
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
|
rs1035003476
|
|
NM_000135.4(FANCA):c.3270_3271del (p.Cys1091fs)
|
rs2143128062
|
|
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)
|
rs1450151864
|
|
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg)
|
rs761244757
|
|
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)
|
|
|
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)
|
|
|
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)
|
|
|
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)
|
|
|
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter)
|
rs777825824
|
|
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer)
|
|
|
NM_000135.4(FANCA):c.3328del (p.His1110fs)
|
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3348+2T>G
|
|
|
NM_000135.4(FANCA):c.3349-1G>C
|
|
|
NM_000135.4(FANCA):c.3349-2A>G
|
rs2038409874
|
|
NM_000135.4(FANCA):c.339_340del (p.Ala114fs)
|
|
|
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs)
|
rs2143106522
|
|
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs)
|
rs2143106211
|
|
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)
|
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)
|
rs1555536446
|
|
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
|
|
|
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
|
rs1598067532
|
|
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)
|
rs770393751
|
|
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)
|
rs1185165443
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)
|
rs2062210802
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
|
|
|
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)
|
rs1313006784
|
|
NM_000135.4(FANCA):c.3627-1G>C
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
|
rs2062172394
|
|
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
|
rs1304878514
|
|
NM_000135.4(FANCA):c.3638dup (p.Pro1213_Glu1214insTer)
|
rs1567598488
|
|
NM_000135.4(FANCA):c.3639del (p.Glu1214fs)
|
rs2062172051
|
|
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter)
|
rs2143062233
|
|
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs)
|
|
|
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
|
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)
|
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)
|
|
|
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs)
|
rs2143060935
|
|
NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)
|
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3763G>T (p.Glu1255Ter)
|
rs2062169243
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
NM_000135.4(FANCA):c.416_417del (p.Val139fs)
|
rs864622188
|
|
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
|
rs2040853528
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)
|
rs539460201
|
|
NM_000135.4(FANCA):c.443del (p.Leu148fs)
|
|
|
NM_000135.4(FANCA):c.447dup (p.Glu150fs)
|
rs2040846500
|
|
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter)
|
rs774448881
|
|
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)
|
|
|
NM_000135.4(FANCA):c.542dup (p.Val182fs)
|
|
|
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.555del (p.His186fs)
|
|
|
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
|
|
|
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter)
|
rs776471397
|
|
NM_000135.4(FANCA):c.597-2A>T
|
|
|
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter)
|
rs2143632171
|
|
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
|
|
|
NM_000135.4(FANCA):c.643_644del (p.Cys215fs)
|
rs1338138752
|
|
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)
|
|
|
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
|
rs2040599267
|
|
NM_000135.4(FANCA):c.709+1G>A
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+1G>C
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
NM_000135.4(FANCA):c.710-5T>C
|
rs2040523640
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)
|
rs868620166
|
|
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)
|
|
|
NM_000135.4(FANCA):c.737del (p.Gly246fs)
|
rs2143615845
|
|
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter)
|
rs878853666
|
|
NM_000135.4(FANCA):c.770_771del (p.Val257fs)
|
|
|
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
|
rs1353992080
|
|
NM_000135.4(FANCA):c.792+1G>A
|
rs2143615250
|
|
NM_000135.4(FANCA):c.792+1G>C
|
|
|
NM_000135.4(FANCA):c.793-1G>C
|
rs1567642367
|
|
NM_000135.4(FANCA):c.800_801dup (p.Asp268fs)
|
rs2143585362
|
|
NM_000135.4(FANCA):c.806_807del (p.Val269fs)
|
|
|
NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)
|
|
|
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter)
|
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
NM_000135.4(FANCA):c.84_87del (p.Arg29fs)
|
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
NM_000135.4(FANCA):c.893+1G>T
|
rs2040352832
|
|
NM_000135.4(FANCA):c.897del (p.Phe299fs)
|
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.916dup (p.Thr306fs)
|
|
|
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
|
rs2041101553
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.972del (p.Thr325fs)
|
|
|
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
|
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
NM_000135.4(FANCA):c.985dup (p.Thr329fs)
|
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000135.4:c.1019_*580del
|
|
|
NM_000135.4:c.1471_2853del
|
|
|
NM_000135.4:c.1626_2602del
|
|
|
NM_000135.4:c.284_1627del
|
|
|
NM_000135.4:c.2853_*580del
|
|
|
NM_000135.4:c.874_2982del
|
|
|
NM_000135.4:c.894_2015del
|
|
|