NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00006
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
NM_018062.4(FANCL):c.1017_1018insA (p.Glu340fs)
|
rs1685166989
|
0.00001
|
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
|
rs1684909842
|
0.00001
|
NM_018062.4(FANCL):c.1A>T (p.Met1Leu)
|
rs772037896
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
|
rs1386476396
|
0.00001
|
NM_018062.4(FANCL):c.565C>T (p.Gln189Ter)
|
rs1191111879
|
0.00001
|
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
|
rs1423411761
|
0.00001
|
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
|
rs765022740
|
0.00001
|
NC_000002.11:g.(?_58425719)_(58433394_?)del
|
|
|
NC_000002.11:g.(?_58431245)_(58433394_?)del
|
|
|
NC_000002.11:g.(?_58431245)_(58468448_?)del
|
|
|
NC_000002.11:g.(?_58449057)_(58453929_?)del
|
|
|
NC_000002.11:g.(?_58449057)_(58468448_?)del
|
|
|
NC_000002.11:g.(?_58456939)_(58457019_?)del
|
|
|
NC_000002.11:g.(?_58459169)_(58468448_?)del
|
|
|
NC_000002.11:g.(?_58468333)_(58468448_?)del
|
|
|
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
|
|
|
NC_000002.12:g.58232113del
|
rs2467548016
|
|
NM_018062.3(FANCL):c.822-15_822-9delins177
|
|
|
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
|
rs2466549385
|
|
NM_018062.4(FANCL):c.13del (p.Glu5fs)
|
rs764407713
|
|
NM_018062.4(FANCL):c.1A>C (p.Met1Leu)
|
rs772037896
|
|
NM_018062.4(FANCL):c.1A>G (p.Met1Val)
|
rs772037896
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter)
|
rs753105795
|
|
NM_018062.4(FANCL):c.217-2A>G
|
rs755417959
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
rs1693048371
|
|
NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)
|
rs2467484660
|
|
NM_018062.4(FANCL):c.235del (p.Asp79fs)
|
rs2467484485
|
|
NM_018062.4(FANCL):c.268del (p.Leu90fs)
|
rs869320684
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
rs2467657340
|
|
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter)
|
rs1196510455
|
|
NM_018062.4(FANCL):c.2T>G (p.Met1Arg)
|
rs761291501
|
|
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
|
rs1234421819
|
|
NM_018062.4(FANCL):c.320del (p.Pro107fs)
|
rs2467426584
|
|
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
|
rs2467426348
|
|
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
|
rs756487177
|
|
NM_018062.4(FANCL):c.375-2033C>G
|
rs1690571577
|
|
NM_018062.4(FANCL):c.378del (p.Val127fs)
|
rs1482973840
|
|
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
|
rs1245585990
|
|
NM_018062.4(FANCL):c.385_397del (p.Ala129fs)
|
rs2105148069
|
|
NM_018062.4(FANCL):c.3G>A (p.Met1Ile)
|
rs1694527909
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.40dup (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.426_438del (p.Asp142fs)
|
rs878855046
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
|
rs2467183415
|
|
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
|
rs2467111921
|
|
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)
|
rs1689679880
|
|
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
|
rs1174029388
|
|
NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)
|
rs2466658232
|
|
NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
|
rs1035067325
|
|
NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)
|
rs542395849
|
|
NM_018062.4(FANCL):c.633_640del (p.Thr211_Trp212insTer)
|
|
|
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
|
rs1685876126
|
|
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
|
rs2466654822
|
|
NM_018062.4(FANCL):c.659del (p.Pro220fs)
|
rs1204245665
|
|
NM_018062.4(FANCL):c.682del (p.Ile228fs)
|
rs2466653166
|
|
NM_018062.4(FANCL):c.739_740dup (p.Met247fs)
|
rs1685514075
|
|
NM_018062.4(FANCL):c.746_756del (p.Pro249fs)
|
rs2104799800
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
NM_018062.4(FANCL):c.761_771del (p.Leu254fs)
|
rs2104799592
|
|
NM_018062.4(FANCL):c.786_787del (p.Leu263fs)
|
|
|
NM_018062.4(FANCL):c.813_816del (p.His272fs)
|
rs1558735946
|
|
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
|
rs2104795249
|
|
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
|
rs935920468
|
|
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
|
rs2466606700
|
|
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
|
rs2466606027
|
|
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
|
rs763615183
|
|
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)
|
rs529201454
|
|
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)
|
rs1423411761
|
|