NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)
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rs9282681
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0.05868
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NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
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rs17227403
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0.00362
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NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
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rs17227396
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0.00056
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NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
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rs762902309
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0.00004
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NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
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rs149851163
|
0.00003
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NM_000135.4(FANCA):c.3766-2A>G
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rs1219402916
|
0.00001
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NM_000135.4(FANCA):c.3813dup (p.His1272fs)
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rs1555534521
|
0.00001
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NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
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rs753700179
|
0.00001
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NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
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rs182657062
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0.00001
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NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)
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rs747892390
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0.00001
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NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
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rs745688750
|
0.00001
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NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
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rs745882980
|
0.00001
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NC_000016.10:g.(89739290_89739477)_(89783103_89784853)del
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|
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NC_000016.10:g.(89740100_89740803)_(89740867_89742799)del
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NC_000016.10:g.(89740100_89740803)_(89799233_89799604)del
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NC_000016.10:g.(89740867_89742799)_(89779958_89782858)del
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NC_000016.10:g.(89740867_89742799)_(89816657_?)del
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NC_000016.10:g.(?_89737551)_(89740867_89742799)del
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NC_000016.10:g.(?_89737551)_(89752222_89758576)del
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NC_000016.10:g.(?_89737551)_(89752223_89758576)del
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NC_000016.10:g.(?_89737551)_(89765067_89767140)del
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NC_000016.10:g.(?_89737551)_(89784965_89791402)del
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NC_000016.10:g.(?_89737551)_(89799639_89803258)del
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NC_000016.10:g.(?_89737551)_(89814614_89815876)del
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NC_000016.10:g.(?_89737551)_(89816657_?)del
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NC_000016.10:g.(?_89738591)_(89742948_?)del
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NC_000016.10:g.(?_89738591)_(89762032_?)del
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NC_000016.9:g.(?_89804999)_(89825128_?)del
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NC_000016.9:g.(?_89804999)_(89874785_?)del
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NC_000016.9:g.(?_89805009)_(89806517_?)del
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NC_000016.9:g.(?_89805009)_(89825123_?)del
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NC_000016.9:g.(?_89805009)_(89833665_?)del
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NC_000016.9:g.(?_89805009)_(89851382_?)del
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NC_000016.9:g.(?_89805009)_(89883024_?)del
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NC_000016.9:g.(?_89807202)_(89883024_?)del
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|
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NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del)
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rs2062115822
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NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)
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|
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NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
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rs397507553
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NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
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|
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NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
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NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu)
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rs2062115605
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NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
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rs1183256870
|
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NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
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NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter)
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rs752800577
|
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NM_000135.4(FANCA):c.3818dup (p.Thr1274fs)
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|
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NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)
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|
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NM_000135.4(FANCA):c.3829-1G>C
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rs2062090760
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NM_000135.4(FANCA):c.3847_3857del (p.Lys1283fs)
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rs2062089925
|
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NM_000135.4(FANCA):c.3878del (p.Glu1293fs)
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rs2062089336
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NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
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rs986710868
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NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
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rs986710868
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NM_000135.4(FANCA):c.3901dup (p.Ser1301fs)
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rs2151714692
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NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg)
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rs878853665
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NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
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|
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NM_000135.4(FANCA):c.3910del (p.Ala1304fs)
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rs2151714666
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NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs)
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rs748453841
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NM_000135.4(FANCA):c.3917_3918del (p.Phe1306fs)
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rs1281446470
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NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
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rs1281446470
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NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
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rs2151714613
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NM_000135.4(FANCA):c.3920del (p.Gln1307fs)
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rs1228394297
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NM_000135.4(FANCA):c.3926_3929del (p.Thr1309fs)
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rs2062087915
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NM_000135.4(FANCA):c.3927dup (p.Glu1310fs)
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rs2151714603
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NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
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|
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NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)
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rs1403231932
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NM_000135.4(FANCA):c.3934+2T>C
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rs771775516
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NM_000135.4(FANCA):c.3935-1G>A
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rs1555533693
|
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NM_000135.4(FANCA):c.3935-1G>T
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rs1555533693
|
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NM_000135.4(FANCA):c.3935-2A>T
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rs1189106357
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NM_000135.4(FANCA):c.3973G>C (p.Asp1325His)
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rs2062069547
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NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
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rs2151712879
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NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
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|
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NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
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NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
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NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly)
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rs1268944859
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NM_000135.4(FANCA):c.4010+1_4010+18del
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rs752457319
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NM_000135.4(FANCA):c.4010+2T>C
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rs2062067746
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NM_000135.4(FANCA):c.4010_4010+18del
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rs2062066871
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NM_000135.4(FANCA):c.4011-1G>C
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rs761988162
|
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NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del)
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rs2062060149
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NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)
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rs773113065
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NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
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|
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NM_000135.4(FANCA):c.4064_4065dup (p.Val1356fs)
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rs2062057713
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NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro)
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rs1456500627
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NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)
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rs1555533313
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NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile)
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rs1555533300
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NM_000135.4(FANCA):c.4083_4084insG (p.Leu1362fs)
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rs2062057035
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NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)
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rs1336834251
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NM_000135.4(FANCA):c.4110dup (p.Gly1371fs)
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NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
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NM_000135.4(FANCA):c.4116dup (p.Thr1373fs)
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rs1567592815
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NM_000135.4(FANCA):c.4123_4139del (p.Thr1375fs)
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rs2062054591
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NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
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rs776969626
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NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)
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rs199599393
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NM_000135.4(FANCA):c.4168-1G>A
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NM_000135.4(FANCA):c.4168-1G>C
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rs2062047006
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NM_000135.4(FANCA):c.4168-2A>G
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rs1220672299
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NM_000135.4(FANCA):c.4185dup (p.Ile1396fs)
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rs2062046121
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NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro)
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rs749574677
|
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NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter)
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rs2151710810
|
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NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)
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rs2062043035
|
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NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
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rs940187828
|
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NM_000135.4(FANCA):c.4250_4251del (p.His1417fs)
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|
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NM_000135.4(FANCA):c.4255del (p.Ala1419fs)
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rs2151710687
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NM_000135.4(FANCA):c.4260+1dup
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rs1555532944
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NM_000135.4(FANCA):c.4261-2A>C
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rs915983602
|
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NM_000135.4(FANCA):c.4261-2A>G
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rs915983602
|
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NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)
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rs2062027006
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NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
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rs1598048941
|
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NM_000135.4(FANCA):c.4279dup (p.Asp1427fs)
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|
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NM_001113525.2(ZNF276):c.*465G>C
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rs765478990
|
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NM_001113525.2(ZNF276):c.*474_*481del
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rs1567591276
|
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