NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
NM_000135.4(FANCA):c.1776+1G>A
|
rs756140957
|
0.00001
|
NM_000135.4(FANCA):c.189+1G>T
|
rs891323617
|
0.00001
|
NM_000135.4(FANCA):c.1900+1G>A
|
rs1598120768
|
0.00001
|
NM_000135.4(FANCA):c.2222+1G>A
|
rs775388912
|
0.00001
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.3513+1G>A
|
rs1188082371
|
0.00001
|
NM_000135.4(FANCA):c.522+1G>T
|
rs1365019056
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NC_000016.10:g.(?_89758567)_(89762032_?)dup
|
|
|
NC_000016.10:g.(?_89764807)_(89779967_?)del
|
|
|
NC_000016.10:g.(?_89791393)_(89799648_?)del
|
|
|
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
|
|
|
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
|
|
|
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
|
|
|
NC_000016.9:g.(?_89816056)_(89816320_?)dup
|
|
|
NC_000016.9:g.(?_89818526)_(89833665_?)dup
|
|
|
NC_000016.9:g.(?_89818536)_(89818822_?)dup
|
|
|
NC_000016.9:g.(?_89824976)_(89831435_?)del
|
|
|
NC_000016.9:g.(?_89828347)_(89846375_?)dup
|
|
|
NC_000016.9:g.(?_89831215)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89842140)_(89851382_?)dup
|
|
|
NC_000016.9:g.(?_89857801)_(89881031_?)del
|
|
|
NC_000016.9:g.(?_89864654)_(89866056_?)dup
|
|
|
NC_000016.9:g.(?_89869657)_(89877489_?)dup
|
|
|
NM_000135.4(FANCA):c.1006+1G>T
|
rs1555564436
|
|
NM_000135.4(FANCA):c.1007-2A>G
|
rs2040110878
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1083+1G>A
|
|
|
NM_000135.4(FANCA):c.1225+2T>A
|
|
|
NM_000135.4(FANCA):c.1225+2T>G
|
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)
|
rs2040074214
|
|
NM_000135.4(FANCA):c.1308G>C (p.Gln436His)
|
rs1316078638
|
|
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
|
|
|
NM_000135.4(FANCA):c.1360-2A>G
|
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
NM_000135.4(FANCA):c.1566+1G>T
|
|
|
NM_000135.4(FANCA):c.1566+2C>G
|
|
|
NM_000135.4(FANCA):c.1567-1G>C
|
rs1464032361
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.1627-2A>G
|
rs2143433058
|
|
NM_000135.4(FANCA):c.1715+1G>A
|
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1716-2A>G
|
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.1777-2A>G
|
rs2143422990
|
|
NM_000135.4(FANCA):c.1777-3_1783del
|
rs2039605605
|
|
NM_000135.4(FANCA):c.1826+2T>A
|
rs2039603867
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
NM_000135.4(FANCA):c.190-2_203del
|
rs2143711687
|
|
NM_000135.4(FANCA):c.1900+1G>T
|
rs1598120768
|
|
NM_000135.4(FANCA):c.1901-2A>G
|
rs1555549535
|
|
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)
|
rs2143367693
|
|
NM_000135.4(FANCA):c.2014+1G>A
|
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2015-1G>T
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2015-2A>C
|
rs2143351760
|
|
NM_000135.4(FANCA):c.2151+1dup
|
rs777971510
|
|
NM_000135.4(FANCA):c.2151+2T>C
|
rs937874201
|
|
NM_000135.4(FANCA):c.2152-1G>A
|
|
|
NM_000135.4(FANCA):c.2222+1G>T
|
rs775388912
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2317-1G>A
|
rs1230207719
|
|
NM_000135.4(FANCA):c.2317-1G>T
|
rs1230207719
|
|
NM_000135.4(FANCA):c.2504+1G>C
|
rs2039260545
|
|
NM_000135.4(FANCA):c.2505-1G>C
|
rs1438990537
|
|
NM_000135.4(FANCA):c.2779-1G>T
|
rs2143261385
|
|
NM_000135.4(FANCA):c.283+1_283+11del
|
rs2143710613
|
|
NM_000135.4(FANCA):c.284-1G>C
|
rs781216924
|
|
NM_000135.4(FANCA):c.284-2A>C
|
|
|
NM_000135.4(FANCA):c.284-940_339del
|
|
|
NM_000135.4(FANCA):c.2852+2T>G
|
rs766875860
|
|
NM_000135.4(FANCA):c.2982-1G>C
|
rs1555540076
|
|
NM_000135.4(FANCA):c.3066+1G>A
|
rs587783028
|
|
NM_000135.4(FANCA):c.3066+1G>C
|
|
|
NM_000135.4(FANCA):c.3066+1G>T
|
rs587783028
|
|
NM_000135.4(FANCA):c.3067-2A>G
|
rs2143140176
|
|
NM_000135.4(FANCA):c.3091del (p.Gln1031fs)
|
rs2143139861
|
|
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3240-1G>A
|
rs2038478071
|
|
NM_000135.4(FANCA):c.337_338del (p.Ala114fs)
|
rs2143680554
|
|
NM_000135.4(FANCA):c.3409-2A>G
|
|
|
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.3513+1G>C
|
|
|
NM_000135.4(FANCA):c.3514-1G>T
|
rs2143088468
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3626+1G>C
|
rs34885858
|
|
NM_000135.4(FANCA):c.3626+2T>G
|
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
NM_000135.4(FANCA):c.3765+2C>T
|
rs776827467
|
|
NM_000135.4(FANCA):c.423_426+14del
|
rs2143678941
|
|
NM_000135.4(FANCA):c.426+1G>A
|
rs1343463467
|
|
NM_000135.4(FANCA):c.426+2T>A
|
rs1598190568
|
|
NM_000135.4(FANCA):c.426+2T>C
|
|
|
NM_000135.4(FANCA):c.426+2T>G
|
rs1598190568
|
|
NM_000135.4(FANCA):c.427-2A>G
|
rs765684774
|
|
NM_000135.4(FANCA):c.427-3C>G
|
rs2040847223
|
|
NM_000135.4(FANCA):c.522+2T>C
|
rs2143677013
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
NM_000135.4(FANCA):c.523-2A>G
|
rs746518509
|
|
NM_000135.4(FANCA):c.596+1G>A
|
|
|
NM_000135.4(FANCA):c.596+1G>C
|
rs2143656696
|
|
NM_000135.4(FANCA):c.596+2T>C
|
rs1555573118
|
|
NM_000135.4(FANCA):c.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.710-1G>A
|
|
|
NM_000135.4(FANCA):c.710-1G>T
|
|
|
NM_000135.4(FANCA):c.793-2A>G
|
|
|
NM_000135.4(FANCA):c.826+2T>C
|
rs2143585058
|
|
NM_000135.4(FANCA):c.827-1G>A
|
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.893+1G>C
|
|
|
NM_000135.4:c.1901_3240del
|
|
|
NM_000135.4:c.710_894del
|
|
|