NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)
|
rs139547269
|
0.00020
|
NM_020937.4(FANCM):c.4318-1G>A
|
rs752228025
|
0.00008
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
NM_020937.4(FANCM):c.5340+1G>T
|
rs754297345
|
0.00004
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
NM_001113378.2(FANCI):c.1891-2A>G
|
rs776329920
|
0.00003
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
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.3766-2A>G
|
rs1219402916
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.4011-3_4011-2del
|
rs911481295
|
0.00001
|
NM_000135.4(FANCA):c.522+1G>T
|
rs1365019056
|
0.00001
|
NM_000135.4(FANCA):c.79+1G>A
|
rs1483028018
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NM_000136.3(FANCC):c.1329+1G>T
|
rs1554829441
|
0.00001
|
NM_000136.3(FANCC):c.166-2A>G
|
rs587777945
|
0.00001
|
NM_000136.3(FANCC):c.345+1G>A
|
rs1175257797
|
0.00001
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_001018113.3(FANCB):c.1327-1G>A
|
rs1295003944
|
0.00001
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
NM_001018115.3(FANCD2):c.2494+2T>C
|
rs779552164
|
0.00001
|
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)
|
rs770686014
|
0.00001
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)
|
rs775517107
|
0.00001
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001113378.2(FANCI):c.3058+1G>A
|
rs149464307
|
0.00001
|
NM_001113378.2(FANCI):c.3721-1G>C
|
rs1173483373
|
0.00001
|
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)
|
rs767443643
|
0.00001
|
NM_004629.2(FANCG):c.1637-2del
|
rs1224034435
|
0.00001
|
NM_004629.2(FANCG):c.175+1G>A
|
rs927868500
|
0.00001
|
NM_004629.2(FANCG):c.85-2A>T
|
rs759590778
|
0.00001
|
NM_018062.4(FANCL):c.216+1G>T
|
rs1205006300
|
0.00001
|
NM_018062.4(FANCL):c.273+1G>C
|
rs144729980
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_018062.4(FANCL):c.692-2A>G
|
rs1558737575
|
0.00001
|
NM_020937.4(FANCM):c.1397-1G>T
|
rs1887394029
|
0.00001
|
NM_022725.4(FANCF):c.690del (p.Gly231fs)
|
rs747622521
|
0.00001
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
NM_032444.4(SLX4):c.4739+1G>T
|
rs759186986
|
0.00001
|
NM_032444.4(SLX4):c.4739+2T>C
|
rs774356384
|
0.00001
|
NC_000002.12:g.(?_58159755)_(58165884_?)del
|
|
|
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
|
|
|
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
|
|
|
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
|
|
|
NC_000003.11:g.(?_10084233)_(10085286_?)del
|
|
|
NC_000003.11:g.(?_10091048)_(10140634_?)del
|
|
|
NC_000003.11:g.(?_10132039)_(10132856_?)del
|
|
|
NC_000009.11:g.(?_97876901)_(97934439_?)dup
|
|
|
NC_000009.12:g.(?_95171069)_(95172157_?)dup
|
|
|
NC_000014.8:g.(?_45618020)_(45669211_?)del
|
|
|
NC_000014.8:g.(?_45623113)_(45669211_?)del
|
|
|
NC_000014.8:g.(?_45628293)_(45628489_?)dup
|
|
|
NC_000014.9:g.(?_45153910)_(45200018_?)del
|
|
|
NC_000015.9:g.(?_89843021)_(89860052_?)del
|
|
|
NC_000016.10:g.(?_89758567)_(89762032_?)dup
|
|
|
NC_000016.10:g.(?_89764807)_(89779967_?)del
|
|
|
NC_000016.10:g.(?_89764884)_(89779963_?)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.(?_3634750)_(3634892_?)dup
|
|
|
NC_000016.9:g.(?_3634764)_(3634878_?)dup
|
|
|
NC_000016.9:g.(?_89804999)_(89871810_?)del
|
|
|
NC_000016.9:g.(?_89811357)_(89851382_?)dup
|
|
|
NC_000016.9:g.(?_89811367)_(89851372_?)dup
|
|
|
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
|
|
|
NC_000023.11:g.(?_14857852)_(14859344_?)del
|
|
|
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.2605C>G (p.Gln869Glu)
|
|
|
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
|
|
|
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.3392C>A (p.Thr1131Asn)
|
|
|
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile)
|
rs2143109078
|
|
NM_000135.4(FANCA):c.3408+1G>C
|
rs1567601557
|
|
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.3766-1G>A
|
|
|
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
|
rs1183256870
|
|
NM_000135.4(FANCA):c.3829-71_3868del
|
|
|
NM_000135.4(FANCA):c.3934+1G>A
|
rs2062087795
|
|
NM_000135.4(FANCA):c.3935-1G>A
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
NM_000135.4(FANCA):c.4011-1G>A
|
rs761988162
|
|
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)
|
rs149851163
|
|
NM_000135.4(FANCA):c.423_426+14del
|
rs2143678941
|
|
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)
|
rs984285795
|
|
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.4260+1G>A
|
rs1060501887
|
|
NM_000135.4(FANCA):c.427-2A>G
|
rs765684774
|
|
NM_000135.4(FANCA):c.427-3C>G
|
rs2040847223
|
|
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
|
rs1598048941
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
NM_000135.4(FANCA):c.4285G>C (p.Asp1429His)
|
rs748856769
|
|
NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr)
|
|
|
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
|
|
|
NM_000136.3(FANCC):c.1072+1G>A
|
rs1554830789
|
|
NM_000136.3(FANCC):c.1072+2T>A
|
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
NM_000136.3(FANCC):c.1155-2A>G
|
rs1343170313
|
|
NM_000136.3(FANCC):c.1330-2A>C
|
rs2134456820
|
|
NM_000136.3(FANCC):c.1330-2A>G
|
|
|
NM_000136.3(FANCC):c.165+1del
|
rs1554858249
|
|
NM_000136.3(FANCC):c.250+1G>A
|
rs2136090597
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000136.3(FANCC):c.346-1G>T
|
rs1484503633
|
|
NM_000136.3(FANCC):c.456+1G>A
|
rs2135587402
|
|
NM_000136.3(FANCC):c.457-1G>T
|
rs1057516917
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.686+1G>C
|
rs1057517125
|
|
NM_000136.3(FANCC):c.686+1G>T
|
rs1057517125
|
|
NM_000136.3(FANCC):c.687-1G>A
|
rs1588134748
|
|
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)
|
rs776054094
|
|
NM_000136.3(FANCC):c.843+1G>C
|
rs587779909
|
|
NM_000136.3(FANCC):c.843+1G>T
|
rs587779909
|
|
NM_000136.3(FANCC):c.844-1G>A
|
|
|
NM_000136.3(FANCC):c.844-1G>T
|
rs774209201
|
|
NM_000136.3(FANCC):c.896+1G>C
|
rs1554833186
|
|
NM_000136.3(FANCC):c.896+2T>A
|
rs863224441
|
|
NM_000136.3(FANCC):c.896+2T>G
|
rs863224441
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_000136.3(FANCC):c.996+1G>C
|
rs370510954
|
|
NM_000136.3(FANCC):c.996+1_996+2insGA
|
rs1825770738
|
|
NM_000136.3(FANCC):c.996+2T>C
|
|
|
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg)
|
rs879254329
|
|
NM_001018115.3(FANCD2):c.1098+2T>A
|
|
|
NM_001018115.3(FANCD2):c.1134+1G>A
|
|
|
NM_001018115.3(FANCD2):c.1181dup (p.Thr395fs)
|
rs2125000228
|
|
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
|
|
|
NM_001018115.3(FANCD2):c.1413+2T>C
|
rs1459222478
|
|
NM_001018115.3(FANCD2):c.1546-1G>A
|
|
|
NM_001018115.3(FANCD2):c.1656+1G>A
|
|
|
NM_001018115.3(FANCD2):c.1766+1G>A
|
|
|
NM_001018115.3(FANCD2):c.1827+1G>C
|
rs761074497
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.1947+1G>A
|
|
|
NM_001018115.3(FANCD2):c.205+1G>A
|
rs2124970985
|
|
NM_001018115.3(FANCD2):c.206-1G>T
|
rs2124974541
|
|
NM_001018115.3(FANCD2):c.2168_2168+1delinsT
|
rs2087674573
|
|
NM_001018115.3(FANCD2):c.2169-1G>C
|
rs141783465
|
|
NM_001018115.3(FANCD2):c.2269+1G>A
|
|
|
NM_001018115.3(FANCD2):c.2270-1G>C
|
|
|
NM_001018115.3(FANCD2):c.2495-2A>G
|
|
|
NM_001018115.3(FANCD2):c.3224+1G>C
|
|
|
NM_001018115.3(FANCD2):c.3224+1G>T
|
rs1468320596
|
|
NM_001018115.3(FANCD2):c.3467-2A>G
|
|
|
NM_001018115.3(FANCD2):c.3560+1G>A
|
|
|
NM_001018115.3(FANCD2):c.3561-1del
|
rs2125077559
|
|
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
|
|
|
NM_001018115.3(FANCD2):c.3749_3777+789del
|
rs2125081509
|
|
NM_001018115.3(FANCD2):c.3849+1G>A
|
|
|
NM_001018115.3(FANCD2):c.3849+1G>T
|
|
|
NM_001018115.3(FANCD2):c.3889-1G>A
|
|
|
NM_001018115.3(FANCD2):c.3963_3963+1inv
|
|
|
NM_001018115.3(FANCD2):c.4038+2T>G
|
|
|
NM_001018115.3(FANCD2):c.4039-2A>G
|
|
|
NM_001018115.3(FANCD2):c.571-2A>G
|
|
|
NM_001018115.3(FANCD2):c.64+1_64+2del
|
rs777719596
|
|
NM_001018115.3(FANCD2):c.64+2T>G
|
rs2124961184
|
|
NM_001018115.3(FANCD2):c.65-1G>T
|
|
|
NM_001018115.3(FANCD2):c.694_695+14del
|
|
|
NM_001018115.3(FANCD2):c.695+1G>A
|
|
|
NM_001018115.3(FANCD2):c.695+2T>A
|
|
|
NM_001018115.3(FANCD2):c.888+1G>A
|
|
|
NM_001018115.3(FANCD2):c.889-2A>G
|
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001113378.2(FANCI):c.1113-1G>A
|
rs2151485792
|
|
NM_001113378.2(FANCI):c.1293+1G>A
|
rs768310043
|
|
NM_001113378.2(FANCI):c.1293+2T>G
|
|
|
NM_001113378.2(FANCI):c.1381+1G>T
|
|
|
NM_001113378.2(FANCI):c.1512+1G>A
|
rs2151551135
|
|
NM_001113378.2(FANCI):c.157+1G>A
|
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
|
NM_001113378.2(FANCI):c.1584-1G>C
|
|
|
NM_001113378.2(FANCI):c.1698+1G>A
|
|
|
NM_001113378.2(FANCI):c.2169+1G>A
|
|
|
NM_001113378.2(FANCI):c.2169+2T>C
|
|
|
NM_001113378.2(FANCI):c.2291+1G>A
|
|
|
NM_001113378.2(FANCI):c.2291+2T>A
|
rs1400441798
|
|
NM_001113378.2(FANCI):c.2292-1G>T
|
|
|
NM_001113378.2(FANCI):c.2456+1G>A
|
|
|
NM_001113378.2(FANCI):c.2457-2A>G
|
rs2054196709
|
|
NM_001113378.2(FANCI):c.2637-1G>C
|
|
|
NM_001113378.2(FANCI):c.2804-1G>C
|
rs2054480330
|
|
NM_001113378.2(FANCI):c.2804-2A>T
|
|
|
NM_001113378.2(FANCI):c.2889+2T>C
|
|
|
NM_001113378.2(FANCI):c.295del (p.His99fs)
|
rs759398314
|
|
NM_001113378.2(FANCI):c.3006+1G>A
|
|
|
NM_001113378.2(FANCI):c.3007-1G>A
|
|
|
NM_001113378.2(FANCI):c.3007-1G>C
|
|
|
NM_001113378.2(FANCI):c.3058+1G>C
|
|
|
NM_001113378.2(FANCI):c.3187-2A>G
|
|
|
NM_001113378.2(FANCI):c.3255+1G>C
|
rs779079622
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.3538-2A>T
|
rs1407605188
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.3652-1G>T
|
|
|
NM_001113378.2(FANCI):c.3924+1G>A
|
rs864622739
|
|
NM_001113378.2(FANCI):c.446-2A>G
|
|
|
NM_001113378.2(FANCI):c.504-2A>G
|
|
|
NM_001113378.2(FANCI):c.542_545+57del
|
|
|
NM_001113378.2(FANCI):c.679_682del (p.Lys227fs)
|
rs2151304648
|
|
NM_001113378.2(FANCI):c.84+2_84+3del
|
|
|
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)
|
rs760412752
|
|
NM_001113378.2(FANCI):c.85-1G>A
|
|
|
NM_001113378.2(FANCI):c.85-1G>T
|
|
|
NM_001113378.2(FANCI):c.85-2A>G
|
|
|
NM_001113378.2(FANCI):c.879_882+14del
|
|
|
NM_001113378.2(FANCI):c.882+2T>A
|
rs2053066295
|
|
NM_001113378.2(FANCI):c.882+2T>C
|
|
|
NM_001113378.2(FANCI):c.976-1G>T
|
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter)
|
rs886063896
|
|
NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter)
|
rs2131053817
|
|
NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)
|
|
|
NM_004629.2(FANCG):c.1433+1G>A
|
rs1829065047
|
|
NM_004629.2(FANCG):c.1434-1G>C
|
|
|
NM_004629.2(FANCG):c.1434-2A>C
|
rs1829062071
|
|
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
|
|
|
NM_004629.2(FANCG):c.1481-1G>C
|
rs2131053141
|
|
NM_004629.2(FANCG):c.1636+1_1636+5delinsA
|
rs1829054259
|
|
NM_004629.2(FANCG):c.1637-1G>A
|
|
|
NM_004629.2(FANCG):c.1637-2A>G
|
|
|
NM_004629.2(FANCG):c.1637-2_1637-1insCTG
|
rs2131051989
|
|
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter)
|
rs786204205
|
|
NM_004629.2(FANCG):c.176-1G>A
|
rs2131059176
|
|
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter)
|
rs1829129603
|
|
NM_004629.2(FANCG):c.308-1G>A
|
|
|
NM_004629.2(FANCG):c.511-3_511-2del
|
rs1491369358
|
|
NM_004629.2(FANCG):c.646+1G>T
|
rs1028569753
|
|
NM_004629.2(FANCG):c.647-2_649del
|
rs2131056701
|
|
NM_004629.2(FANCG):c.777+1G>A
|
rs1060501862
|
|
NM_004629.2(FANCG):c.778-1G>A
|
rs767518932
|
|
NM_004629.2(FANCG):c.778-1G>C
|
rs767518932
|
|
NM_004629.2(FANCG):c.84+1G>A
|
|
|
NM_004629.2(FANCG):c.85-1G>A
|
rs1052044702
|
|
NM_004629.2(FANCG):c.924+1G>A
|
rs1829091761
|
|
NM_004629.2(FANCG):c.925-1G>C
|
|
|
NM_004629.2(FANCG):c.925-1G>T
|
|
|
NM_018062.4(FANCL):c.1021-2A>G
|
|
|
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
|
|
|
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
|
|
|
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
|
|
|
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)
|
rs750871999
|
|
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
|
|
|
NM_018062.4(FANCL):c.1092+1_1092+5del
|
rs1558727300
|
|
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.217-2A>G
|
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.273+1G>A
|
rs144729980
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018062.4(FANCL):c.471+1G>A
|
|
|
NM_018062.4(FANCL):c.471+2T>C
|
|
|
NM_018062.4(FANCL):c.541-2A>C
|
|
|
NM_018062.4(FANCL):c.775+2T>C
|
|
|
NM_018062.4(FANCL):c.821+1G>A
|
|
|
NM_018062.4(FANCL):c.903+1G>T
|
|
|
NM_018062.4(FANCL):c.903+1_903+2del
|
|
|
NM_018062.4(FANCL):c.903+1del
|
|
|
NM_018062.4(FANCL):c.904-1G>A
|
rs2104783888
|
|
NM_018062.4(FANCL):c.96+2T>A
|
|
|
NM_018062.4(FANCL):c.96+2T>C
|
|
|
NM_020937.4(FANCM):c.1051-2A>T
|
rs1886997142
|
|
NM_020937.4(FANCM):c.1397-1_1407del
|
|
|
NM_020937.4(FANCM):c.1581+1G>A
|
rs373430198
|
|
NM_020937.4(FANCM):c.2316+2T>A
|
rs2139235421
|
|
NM_020937.4(FANCM):c.4318-2A>G
|
|
|
NM_020937.4(FANCM):c.4386+1G>A
|
rs1889085249
|
|
NM_020937.4(FANCM):c.4673-1G>A
|
|
|
NM_020937.4(FANCM):c.4673-2A>C
|
rs2139291763
|
|
NM_020937.4(FANCM):c.4780-2A>G
|
rs1889569618
|
|
NM_020937.4(FANCM):c.5340+2T>C
|
|
|
NM_020937.4(FANCM):c.682-2A>G
|
rs1885847871
|
|
NM_020937.4(FANCM):c.759+2T>C
|
rs902753970
|
|
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)
|
rs1462766132
|
|
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)
|
rs755938406
|
|
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)
|
rs753272712
|
|
NM_022725.4(FANCF):c.1A>C (p.Met1Leu)
|
rs1046564488
|
|
NM_022725.4(FANCF):c.1A>T (p.Met1Leu)
|
rs1046564488
|
|
NM_032444.4(SLX4):c.1116_1117insT (p.Leu373fs)
|
rs2151133987
|
|
NM_032444.4(SLX4):c.1125del (p.Ala376fs)
|
rs2151133964
|
|
NM_032444.4(SLX4):c.1163+1G>A
|
|
|
NM_032444.4(SLX4):c.1684-1G>A
|
|
|
NM_032444.4(SLX4):c.1684-2A>C
|
|
|
NM_032444.4(SLX4):c.2013+2T>C
|
|
|
NM_032444.4(SLX4):c.2161-2A>T
|
rs2151127331
|
|
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs)
|
rs1022072026
|
|
NM_032444.4(SLX4):c.5172del (p.Phe1724fs)
|
|
|
NM_032444.4(SLX4):c.5216_5217dup (p.Val1740fs)
|
rs2151115927
|
|
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs)
|
rs781479923
|
|
NM_032444.4(SLX4):c.951-1G>C
|
|
|