NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)
|
rs2239359
|
0.51262
|
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)
|
rs7195066
|
0.46389
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)
|
rs17232246
|
0.04972
|
NM_000135.4(FANCA):c.3348+18A>G
|
rs1800347
|
0.02828
|
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)
|
rs142377616
|
0.00006
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
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.2222+8C>T
|
rs745775730
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro)
|
rs753316789
|
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.1153C>T (p.His385Tyr)
|
rs757760966
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1566G>A (p.Lys522=)
|
rs1276716915
|
0.00001
|
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
|
rs779745863
|
0.00001
|
NM_000135.4(FANCA):c.190-1G>C
|
rs765277254
|
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.2051T>C (p.Leu684Pro)
|
rs762526878
|
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.2348G>T (p.Gly783Val)
|
rs935069258
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)
|
rs745568821
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile)
|
rs1204335568
|
0.00001
|
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr)
|
rs764157478
|
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
|
NC_000016.10:g.(89742939_89744958)_(89745072_89746583)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89748768_89749729)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89767238_89769836)del
|
|
|
NC_000016.10:g.(89742939_89744958)_(89816657_?)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89752223_89758576)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89770025_89770165)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89770635_89771677)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89771815_89773270)del
|
|
|
NC_000016.10:g.(89746891_89748658)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89748768_89749729)_(89758706_89761948)del
|
|
|
NC_000016.10:g.(89748768_89749729)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89749903_89752137)_(89758706_89761948)del
|
|
|
NC_000016.10:g.(89749903_89752137)_(89792548_89795905)del
|
|
|
NC_000016.10:g.(89749903_89752137)_(89816657_?)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89762023_89764889)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89767238_89769836)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89773385_89775741)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89752223_89758576)_(89816657_?)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89771815_89773270)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89773385_89775741)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89758706_89761948)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89770635_89771677)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89773385_89775741)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89762023_89764889)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89765067_89767140)_(89803342_89805279)del
|
|
|
NC_000016.10:g.(89767238_89769836)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89767238_89769836)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89767238_89769836)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89770025_89770165)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89770025_89770165)_(89792069_89792470)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89771815_89773270)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89770635_89771677)_(89792548_89795905)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89778851_89778942)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89771815_89773270)_(89816657_?)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89775816_89778800)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89784965_89791402)dup
|
|
|
NC_000016.10:g.(89773385_89775741)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89773385_89775741)_(89816657_?)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89778851_89778942)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89775816_89778800)_(89816657_?)del
|
|
|
NC_000016.10:g.(89778851_89778942)_(89779004_89779868)del
|
|
|
NC_000016.10:g.(89779004_89779868)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89779004_89779868)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89779004_89779868)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89779958_89782858)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89782919_89783006)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89783103_89784853)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89792069_89792470)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89792548_89795905)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89796019_89799165)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89784965_89791402)_(89816657_?)del
|
|
|
NC_000016.10:g.(89791537_89791926)_(89792069_89792470)del
|
|
|
NC_000016.10:g.(89791537_89791926)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89792069_89792470)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89792069_89792470)_(89816657_?)del
|
|
|
NC_000016.10:g.(89792548_89795905)_(89803342_89805279)del
|
|
|
NC_000016.10:g.(89792548_89795905)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89792548_89795905)_(89816657_?)del
|
|
|
NC_000016.10:g.(89799233_89799604)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(89799639_89803258)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89799639_89803258)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89803342_89805279)_(89805393_89808293)del
|
|
|
NC_000016.10:g.(89803342_89805279)_(89816657_?)del
|
|
|
NC_000016.10:g.(89805279_89805393)_(89816657_?)del
|
|
|
NC_000016.10:g.(89805393_89808293)_(89808368_89810706)del
|
|
|
NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del
|
|
|
NC_000016.10:g.(89805393_89808293)_(89816657_?)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89810803_89810928)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89815987_89816536)del
|
|
|
NC_000016.10:g.(89808368_89810706)_(89816657_?)del
|
|
|
NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del
|
|
|
NC_000016.10:g.(89814614_89815876)_(89816657_?)del
|
|
|
NC_000016.10:g.(89815987_89816536)_(89816657_?)del
|
|
|
NC_000016.10:g.89748659_89762022del
|
|
|
NC_000016.10:g.89752141_89762025del
|
|
|
NC_000016.10:g.89754008_89816657del
|
|
|
NC_000016.9:g.(89815176_89816137)_(89866047_89869666)del
|
|
|
NC_000016.9:g.(89816311_89818545)_(89871801_89874701)del
|
|
|
NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del
|
|
|
NC_000016.9:g.89844985_89869211del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_3066+281del
|
|
|
NM_000135.2(FANCA):c.(?_-42)_597-800del
|
|
|
NM_000135.2(FANCA):c.1007-10_2504+209del
|
|
|
NM_000135.2(FANCA):c.2779_2852del
|
rs2038967116
|
|
NM_000135.2(FANCA):c.284del
|
rs2040861554
|
|
NM_000135.4(FANCA):c.1006+2_1006+5del
|
rs2040229450
|
|
NM_000135.4(FANCA):c.1007-1del
|
rs2040110823
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg)
|
rs1045404649
|
|
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro)
|
rs2040094645
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1124T>G (p.Leu375Trp)
|
rs2040093463
|
|
NM_000135.4(FANCA):c.1147del (p.Glu383fs)
|
rs2040092247
|
|
NM_000135.4(FANCA):c.1164_1165del (p.Arg388fs)
|
rs2040091643
|
|
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs)
|
rs2040090895
|
|
NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg)
|
rs2040089994
|
|
NM_000135.4(FANCA):c.1226-6_1226-2del
|
rs2040076730
|
|
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)
|
rs774026652
|
|
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
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.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
NM_000135.4(FANCA):c.1430del (p.Leu477fs)
|
rs2039845956
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
NM_000135.4(FANCA):c.1470+1G>T
|
rs1555556175
|
|
NM_000135.4(FANCA):c.1470G>A (p.Gln490=)
|
rs2039844218
|
|
NM_000135.4(FANCA):c.1471-1G>T
|
rs2039777078
|
|
NM_000135.4(FANCA):c.1471-738_1627-883del
|
|
|
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.1508dup (p.Tyr503Ter)
|
rs2039775751
|
|
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter)
|
rs2039774778
|
|
NM_000135.4(FANCA):c.1566+3A>C
|
rs2039773398
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
NM_000135.4(FANCA):c.1627-1G>T
|
rs2039644862
|
|
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs)
|
rs2039643136
|
|
NM_000135.4(FANCA):c.1703del (p.Val568fs)
|
rs2039642419
|
|
NM_000135.4(FANCA):c.1709_1715+4del
|
rs2039641869
|
|
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)
|
rs2041096125
|
|
NM_000135.4(FANCA):c.1738_1742delinsCCGCCT (p.Val580fs)
|
rs2039611494
|
|
NM_000135.4(FANCA):c.173dup (p.Asn58fs)
|
rs2041095962
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1777-3_1783del
|
rs2039605605
|
|
NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn)
|
rs2039605345
|
|
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)
|
rs759899153
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
NM_000135.4(FANCA):c.190-146_284-1082del
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.190-494_597-592del
|
|
|
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)
|
rs1567621042
|
|
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)
|
rs2039386741
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2015-1G>T
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr)
|
rs1183781456
|
|
NM_000135.4(FANCA):c.2066del (p.Gly689fs)
|
rs2039334639
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
NM_000135.4(FANCA):c.2121del (p.Asn707fs)
|
rs2039331837
|
|
NM_000135.4(FANCA):c.2151+2_2151+3insG
|
rs2039330307
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro)
|
rs2039290343
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro)
|
rs2039289431
|
|
NM_000135.4(FANCA):c.2222+1G>C
|
rs775388912
|
|
NM_000135.4(FANCA):c.2223-3C>G
|
rs2039278966
|
|
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys)
|
rs1239354393
|
|
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu)
|
rs2039276663
|
|
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)
|
rs751572448
|
|
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
|
rs761725308
|
|
NM_000135.4(FANCA):c.2316+1G>T
|
rs2039275333
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2327dup (p.Ser777fs)
|
rs2039267300
|
|
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)
|
rs2041026343
|
|
NM_000135.4(FANCA):c.2351dup (p.Leu784fs)
|
rs2039266434
|
|
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro)
|
rs1036897594
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro)
|
rs1307805145
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
NM_000135.4(FANCA):c.2504+134A>G
|
rs2039254077
|
|
NM_000135.4(FANCA):c.2504+1G>A
|
rs2039260545
|
|
NM_000135.4(FANCA):c.2504+2T>C
|
rs2039260502
|
|
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg)
|
rs1216922486
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp)
|
rs374030577
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)
|
rs1354272260
|
|
NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro)
|
rs2039075542
|
|
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)
|
rs878853663
|
|
NM_000135.4(FANCA):c.2736dup (p.His913fs)
|
rs2039074823
|
|
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.2778+1G>C
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+1G>T
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg)
|
rs2038969261
|
|
NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys)
|
rs2038968872
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
NM_000135.4(FANCA):c.2808G>C (p.Glu936Asp)
|
rs2038968727
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.2827_2845dup (p.Thr949delinsSerTer)
|
rs2038967521
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1del
|
rs2041024132
|
|
NM_000135.4(FANCA):c.283+3A>C
|
rs786204204
|
|
NM_000135.4(FANCA):c.284-1328_705del
|
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter)
|
rs2038844790
|
|
NM_000135.4(FANCA):c.285_522+1del
|
rs2040843894
|
|
NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter)
|
rs2038844292
|
|
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)
|
rs927630499
|
|
NM_000135.4(FANCA):c.2872del (p.Ala958fs)
|
rs2038844082
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
NM_000135.4(FANCA):c.2982-192A>G
|
rs2038628210
|
|
NM_000135.4(FANCA):c.2989A>T (p.Ser997Cys)
|
rs2038619848
|
|
NM_000135.4(FANCA):c.3021_3027del (p.Phe1008fs)
|
rs2038617702
|
|
NM_000135.4(FANCA):c.3043G>A (p.Glu1015Lys)
|
rs1443921504
|
|
NM_000135.4(FANCA):c.3066+1G>A
|
rs587783028
|
|
NM_000135.4(FANCA):c.3067-1G>A
|
rs2038522097
|
|
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter)
|
rs1270910813
|
|
NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter)
|
rs1172710952
|
|
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del)
|
rs2038519209
|
|
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly)
|
rs753063086
|
|
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.3164G>T (p.Arg1055Leu)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer)
|
rs2038517512
|
|
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)
|
rs1166286386
|
|
NM_000135.4(FANCA):c.3239+82T>G
|
rs2038511531
|
|
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3240-2A>G
|
rs2038478110
|
|
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)
|
rs2038476999
|
|
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter)
|
rs775799529
|
|
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
|
rs1433848980
|
|
NM_000135.4(FANCA):c.331_334dup (p.Leu112fs)
|
rs2040859131
|
|
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro)
|
rs752837228
|
|
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)
|
rs2038474528
|
|
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys)
|
rs1236607168
|
|
NM_000135.4(FANCA):c.3348+5G>A
|
rs1343799019
|
|
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr)
|
rs2038409656
|
|
NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg)
|
rs2038401184
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)
|
rs2038399117
|
|
NM_000135.4(FANCA):c.3513G>A (p.Leu1171=)
|
rs2038398296
|
|
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)
|
rs1185165443
|
|
NM_000135.4(FANCA):c.3560dup (p.His1188fs)
|
rs2062211067
|
|
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)
|
rs2062210802
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)
|
rs1381684916
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro)
|
rs770622823
|
|
NM_000135.4(FANCA):c.3627-1G>A
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
|
rs2062172394
|
|
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)
|
rs1304878514
|
|
NM_000135.4(FANCA):c.3639del (p.Glu1214fs)
|
rs2062172051
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
NM_000135.4(FANCA):c.3715_3729del (p.Glu1239_Arg1243del)
|
rs1375036674
|
|
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)
|
rs794726660
|
|
NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter)
|
rs375700263
|
|
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3761_3764dup (p.Leu1256fs)
|
rs2062169220
|
|
NM_000135.4(FANCA):c.3765+1G>T
|
rs2062169124
|
|
NM_000135.4(FANCA):c.396dup (p.His133fs)
|
rs2040855193
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
NM_000135.4(FANCA):c.416_417del (p.Val139fs)
|
rs864622188
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
NM_000135.4(FANCA):c.426+2T>G
|
rs1598190568
|
|
NM_000135.4(FANCA):c.427-2A>G
|
rs765684774
|
|
NM_000135.4(FANCA):c.427-8_427-5del
|
rs2040847430
|
|
NM_000135.4(FANCA):c.448G>T (p.Glu150Ter)
|
rs947111024
|
|
NM_000135.4(FANCA):c.470C>T (p.Ala157Val)
|
rs1251792942
|
|
NM_000135.4(FANCA):c.487del (p.Arg163fs)
|
rs2040845588
|
|
NM_000135.4(FANCA):c.505G>T (p.Glu169Ter)
|
rs372691338
|
|
NM_000135.4(FANCA):c.522+507_793-1273del
|
|
|
NM_000135.4(FANCA):c.596+548_793-219del
|
|
|
NM_000135.4(FANCA):c.597-2A>G
|
rs2040602804
|
|
NM_000135.4(FANCA):c.629T>G (p.Leu210Arg)
|
rs2040601073
|
|
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly)
|
rs1354884515
|
|
NM_000135.4(FANCA):c.709+1G>A
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.710-10G>A
|
rs2040524006
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000135.4(FANCA):c.710-2A>G
|
rs2040523467
|
|
NM_000135.4(FANCA):c.710-5T>C
|
rs2040523640
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.732G>C (p.Leu244Phe)
|
rs2040522671
|
|
NM_000135.4(FANCA):c.784del (p.Met262fs)
|
rs2040520715
|
|
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
|
rs1353992080
|
|
NM_000135.4(FANCA):c.792G>A (p.Gln264=)
|
rs2040520107
|
|
NM_000135.4(FANCA):c.793-2A>C
|
rs2040372065
|
|
NM_000135.4(FANCA):c.795_808del (p.Thr266fs)
|
rs2040370883
|
|
NM_000135.4(FANCA):c.820C>T (p.Leu274=)
|
rs2040370137
|
|
NM_000135.4(FANCA):c.826+4del
|
rs2040369776
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.827-2A>G
|
rs2040355782
|
|
NM_000135.4(FANCA):c.851dup (p.Val285fs)
|
rs1369685302
|
|
NM_000135.4(FANCA):c.88del (p.Val30fs)
|
rs2041101804
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
NM_000135.4(FANCA):c.893+1G>T
|
rs2040352832
|
|
NM_000135.4(FANCA):c.893+920C>A
|
rs1174586234
|
|
NM_000135.4(FANCA):c.894-1137_1359+1837del
|
|
|
NM_000135.4(FANCA):c.894-1G>A
|
rs2040234338
|
|
NM_000135.4(FANCA):c.894-3C>G
|
rs2040234388
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.933_936delinsCT (p.Ser312fs)
|
rs2040232900
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.978_979del (p.Gln326fs)
|
rs2040231133
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|