NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000135.4(FANCA):c.3813dup (p.His1272fs)
|
rs1555534521
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
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rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)
|
rs747892390
|
0.00001
|
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
|
rs745688750
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
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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|
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NC_000016.9:g.(?_89805009)_(89833665_?)del
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|
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NC_000016.9:g.(?_89805009)_(89851382_?)del
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|
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NC_000016.9:g.(?_89805009)_(89883024_?)del
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|
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NC_000016.9:g.(?_89807202)_(89883024_?)del
|
|
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NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
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NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
|
|
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NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
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|
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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)
|
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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NM_000135.4(FANCA):c.3878del (p.Glu1293fs)
|
rs2062089336
|
|
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
|
rs986710868
|
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NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs)
|
rs2151714692
|
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NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
|
|
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NM_000135.4(FANCA):c.3910del (p.Ala1304fs)
|
rs2151714666
|
|
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs)
|
rs748453841
|
|
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
|
rs1281446470
|
|
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
|
rs2151714613
|
|
NM_000135.4(FANCA):c.3920del (p.Gln1307fs)
|
rs1228394297
|
|
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs)
|
rs2151714603
|
|
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
|
|
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NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)
|
rs1403231932
|
|
NM_000135.4(FANCA):c.3934+2T>C
|
rs771775516
|
|
NM_000135.4(FANCA):c.3935-1G>A
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-1G>T
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-2A>T
|
rs1189106357
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
|
|
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NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
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|
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NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
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NM_000135.4(FANCA):c.4011-1G>C
|
rs761988162
|
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NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)
|
rs773113065
|
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NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
|
|
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NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)
|
rs1336834251
|
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NM_000135.4(FANCA):c.4110dup (p.Gly1371fs)
|
|
|
NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
|
|
|
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs)
|
rs1567592815
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)
|
rs199599393
|
|
NM_000135.4(FANCA):c.4168-1G>A
|
|
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NM_000135.4(FANCA):c.4168-2A>G
|
rs1220672299
|
|
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs)
|
rs2062046121
|
|
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter)
|
rs2151710810
|
|
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)
|
rs2062043035
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
|
NM_000135.4(FANCA):c.4250_4251del (p.His1417fs)
|
|
|
NM_000135.4(FANCA):c.4255del (p.Ala1419fs)
|
rs2151710687
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
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NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
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NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)
|
rs2062027006
|
|
NM_000135.4(FANCA):c.4279dup (p.Asp1427fs)
|
|
|