NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)
|
rs551046401
|
0.00009
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00007
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
|
rs121918164
|
0.00005
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)
|
rs139322149
|
0.00004
|
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)
|
rs1564723449
|
0.00004
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
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_001083116.3(PRF1):c.503G>A (p.Ser168Asn)
|
rs779399414
|
0.00003
|
NM_001113378.2(FANCI):c.1891-2A>G
|
rs776329920
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)
|
rs758110629
|
0.00002
|
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr)
|
rs104894182
|
0.00002
|
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His)
|
rs148237800
|
0.00002
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_000135.4(FANCA):c.189+1G>T
|
rs891323617
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
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.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000136.3(FANCC):c.1329+1G>T
|
rs1554829441
|
0.00001
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)
|
rs1181436417
|
0.00001
|
NM_001018115.3(FANCD2):c.2494+2T>C
|
rs779552164
|
0.00001
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
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_001083116.3(PRF1):c.1066C>T (p.Arg356Trp)
|
rs746365230
|
0.00001
|
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met)
|
rs28933376
|
0.00001
|
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)
|
rs764596094
|
0.00001
|
NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr)
|
rs776657932
|
0.00001
|
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)
|
rs202217604
|
0.00001
|
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser)
|
rs763002067
|
0.00001
|
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)
|
rs1347292940
|
0.00001
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001113378.2(FANCI):c.3006+3A>G
|
rs1294973649
|
0.00001
|
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs)
|
rs756691827
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.1716dup (p.Glu573fs)
|
rs1060503483
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
NM_002485.5(NBN):c.2234+2T>G
|
rs142301194
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)
|
rs767443643
|
0.00001
|
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
|
rs754484649
|
0.00001
|
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)
|
rs113993996
|
0.00001
|
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)
|
rs774976459
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.1238-1G>C
|
rs1767507722
|
0.00001
|
NM_021922.3(FANCE):c.1510-1G>A
|
rs772678337
|
0.00001
|
NM_021922.3(FANCE):c.248+1del
|
rs1767163932
|
0.00001
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
NM_021922.3(FANCE):c.297del (p.Met99fs)
|
rs754850404
|
0.00001
|
NM_000135.4(FANCA):c.1006+1G>A
|
|
|
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
|
|
|
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
|
|
|
NM_000135.4(FANCA):c.1084-1G>T
|
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
NM_000135.4(FANCA):c.1226-2A>C
|
|
|
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
|
|
|
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
|
|
|
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
|
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
|
|
|
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
|
|
|
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)
|
rs925457555
|
|
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
|
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
NM_000135.4(FANCA):c.1630del (p.His544fs)
|
|
|
NM_000135.4(FANCA):c.16dup (p.Val6fs)
|
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
|
|
|
NM_000135.4(FANCA):c.1826+2T>C
|
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
NM_000135.4(FANCA):c.1900+1G>T
|
rs1598120768
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs)
|
rs754104046
|
|
NM_000135.4(FANCA):c.2151+1dup
|
rs777971510
|
|
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
|
|
|
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
|
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
|
|
|
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
|
|
|
NM_000135.4(FANCA):c.2602-2A>C
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2604_2609del
|
|
|
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
|
|
|
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)
|
rs1017086086
|
|
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
|
|
|
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
|
|
|
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
NM_000135.4(FANCA):c.2981+1G>A
|
rs1555542860
|
|
NM_000135.4(FANCA):c.2982-1G>C
|
rs1555540076
|
|
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
|
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter)
|
rs147176389
|
|
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
|
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
|
|
|
NM_000135.4(FANCA):c.32del (p.Ser11fs)
|
|
|
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
|
|
|
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
|
|
|
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)
|
rs786204246
|
|
NM_000135.4(FANCA):c.3409-25_3418del
|
|
|
NM_000135.4(FANCA):c.3409-2A>G
|
|
|
NM_000135.4(FANCA):c.3409-3_3417del
|
|
|
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
|
|
|
NM_000135.4(FANCA):c.3504_3513+55del
|
|
|
NM_000135.4(FANCA):c.3514-1G>C
|
|
|
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
|
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
|
|
|
NM_000135.4(FANCA):c.3765+1G>A
|
|
|
NM_000135.4(FANCA):c.3765+2C>T
|
rs776827467
|
|
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
|
NM_000135.4(FANCA):c.3828+1G>A
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
|
|
|
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
|
|
|
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
|
rs2151714613
|
|
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
|
|
|
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
|
|
|
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
|
|
|
NM_000135.4(FANCA):c.4100_4167+2del
|
|
|
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
|
|
|
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
|
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
|
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)
|
|
|
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)
|
rs984285795
|
|
NM_000135.4(FANCA):c.4260+1G>A
|
rs1060501887
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
|
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
|
|
|
NM_000135.4(FANCA):c.522+2T>G
|
|
|
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
|
|
|
NM_000135.4(FANCA):c.596+2T>C
|
rs1555573118
|
|
NM_000135.4(FANCA):c.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.710-10G>A
|
rs2040524006
|
|
NM_000135.4(FANCA):c.793-2A>T
|
|
|
NM_000135.4(FANCA):c.80-2A>G
|
|
|
NM_000135.4(FANCA):c.80-99_105del
|
|
|
NM_000135.4(FANCA):c.83del (p.Gly28fs)
|
|
|
NM_000135.4(FANCA):c.94del (p.Arg32fs)
|
|
|
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
|
|
|
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)
|
rs1057516919
|
|
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
|
|
|
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)
|
rs2071939263
|
|
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
|
|
|
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
|
|
|
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
|
|
|
NM_000136.3(FANCC):c.1329+1del
|
|
|
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)
|
rs1057516298
|
|
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)
|
rs1564641485
|
|
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
|
|
|
NM_000136.3(FANCC):c.163del (p.Met55fs)
|
|
|
NM_000136.3(FANCC):c.169del (p.Ser57fs)
|
|
|
NM_000136.3(FANCC):c.220del (p.Ala74fs)
|
rs1588350264
|
|
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)
|
rs777918411
|
|
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter)
|
rs1830584796
|
|
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
|
|
|
NM_000136.3(FANCC):c.29dup (p.Cys10fs)
|
rs878853671
|
|
NM_000136.3(FANCC):c.345+1del
|
rs1057516247
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000136.3(FANCC):c.346-1G>C
|
|
|
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)
|
rs1588220728
|
|
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
|
|
|
NM_000136.3(FANCC):c.457-2A>G
|
|
|
NM_000136.3(FANCC):c.507del (p.Phe169fs)
|
rs1588218493
|
|
NM_000136.3(FANCC):c.547del (p.Leu183fs)
|
|
|
NM_000136.3(FANCC):c.5dup (p.Gln3fs)
|
rs1268491295
|
|
NM_000136.3(FANCC):c.686+1G>C
|
rs1057517125
|
|
NM_000136.3(FANCC):c.705del (p.Met236fs)
|
rs2135168243
|
|
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
|
|
|
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
|
|
|
NM_000136.3(FANCC):c.843+1G>C
|
rs587779909
|
|
NM_000136.3(FANCC):c.883dup (p.Asp295fs)
|
rs1826007748
|
|
NM_000136.3(FANCC):c.897-1G>A
|
rs1588101086
|
|
NM_000136.3(FANCC):c.907del (p.Leu303fs)
|
|
|
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
|
rs1825775052
|
|
NM_000136.3(FANCC):c.996+1_996+2insGA
|
rs1825770738
|
|
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
|
|
|
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
|
|
|
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
|
|
|
NM_001018115.3(FANCD2):c.1135-1G>C
|
|
|
NM_001018115.3(FANCD2):c.1279-2A>C
|
|
|
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
|
|
|
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
|
|
|
NM_001018115.3(FANCD2):c.1545+1G>T
|
|
|
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
|
|
|
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
|
|
|
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
|
|
|
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
|
|
|
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
|
|
|
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
|
|
|
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
|
|
|
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)
|
rs757567225
|
|
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
|
|
|
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
|
|
|
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
|
|
|
NM_001018115.3(FANCD2):c.206-1G>T
|
rs2124974541
|
|
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
|
|
|
NM_001018115.3(FANCD2):c.2169-1G>C
|
rs141783465
|
|
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
|
|
|
NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)
|
|
|
NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)
|
|
|
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
|
|
|
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
|
|
|
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
|
|
|
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
|
|
|
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
|
|
|
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
|
|
|
NM_001018115.3(FANCD2):c.3224+1G>T
|
rs1468320596
|
|
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
|
|
|
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
|
|
|
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
|
|
|
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
|
|
|
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs)
|
rs2125072480
|
|
NM_001018115.3(FANCD2):c.3466+1G>A
|
|
|
NM_001018115.3(FANCD2):c.3560+1G>A
|
|
|
NM_001018115.3(FANCD2):c.378-1G>C
|
|
|
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
|
|
|
NM_001018115.3(FANCD2):c.3889-2A>G
|
|
|
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
|
|
|
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
|
|
|
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
|
|
|
NM_001018115.3(FANCD2):c.4186-2A>G
|
|
|
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)
|
rs2086805219
|
|
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
|
|
|
NM_001018115.3(FANCD2):c.65-2A>G
|
|
|
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
|
|
|
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
|
|
|
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
|
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)
|
|
|
NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)
|
|
|
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)
|
|
|
NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)
|
|
|
NM_001083116.3(PRF1):c.1383G>A (p.Trp461Ter)
|
|
|
NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)
|
|
|
NM_001083116.3(PRF1):c.229_233dup (p.Asn78fs)
|
|
|
NM_001083116.3(PRF1):c.478C>T (p.Gln160Ter)
|
|
|
NM_001083116.3(PRF1):c.523G>T (p.Glu175Ter)
|
|
|
NM_001083116.3(PRF1):c.539+2T>A
|
|
|
NM_001083116.3(PRF1):c.563dup (p.Leu189fs)
|
rs1454231642
|
|
NM_001083116.3(PRF1):c.581dup (p.Arg195fs)
|
|
|
NM_001083116.3(PRF1):c.982_998del (p.Trp328fs)
|
|
|
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
|
|
|
NM_001113378.2(FANCI):c.1112+2T>C
|
|
|
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
|
|
|
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
|
|
|
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
|
|
|
NM_001113378.2(FANCI):c.1293+1G>T
|
|
|
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
|
|
|
NM_001113378.2(FANCI):c.1584-1G>A
|
|
|
NM_001113378.2(FANCI):c.1584-1G>C
|
|
|
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
|
|
|
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
|
|
|
NM_001113378.2(FANCI):c.1699-2A>C
|
|
|
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
|
|
|
NM_001113378.2(FANCI):c.1890+1G>T
|
|
|
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
|
|
|
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
|
|
|
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
|
|
|
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
|
|
|
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
|
|
|
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
|
|
|
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
|
|
|
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
|
|
|
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
|
|
|
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
|
|
|
NM_001113378.2(FANCI):c.2291+2T>A
|
rs1400441798
|
|
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs)
|
rs1567165630
|
|
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)
|
rs758062617
|
|
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
|
|
|
NM_001113378.2(FANCI):c.2456+1G>A
|
|
|
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
|
|
|
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
|
|
|
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
|
|
|
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
|
|
|
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
|
|
|
NM_001113378.2(FANCI):c.2637-1G>T
|
|
|
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
|
|
|
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
|
|
|
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
|
|
|
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs)
|
rs745893292
|
|
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
|
|
|
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
|
|
|
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)
|
rs1359408831
|
|
NM_001113378.2(FANCI):c.2804-2A>G
|
|
|
NM_001113378.2(FANCI):c.2804-2A>T
|
|
|
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
|
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
NM_001113378.2(FANCI):c.2889+1G>A
|
|
|
NM_001113378.2(FANCI):c.2890-2A>C
|
|
|
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
|
|
|
NM_001113378.2(FANCI):c.3007-1G>C
|
|
|
NM_001113378.2(FANCI):c.3007-1G>T
|
|
|
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
|
|
|
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
|
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
|
|
|
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
|
|
|
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
|
|
|
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
|
|
|
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
|
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs)
|
rs1567179036
|
|
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
|
|
|
NM_001113378.2(FANCI):c.3924+2T>C
|
|
|
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
|
|
|
NM_001113378.2(FANCI):c.446del
|
|
|
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
|
|
|
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
|
|
|
NM_001113378.2(FANCI):c.669+1G>T
|
|
|
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
|
|
|
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
|
|
|
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
|
|
|
NM_001113378.2(FANCI):c.834del (p.Ile279fs)
|
rs748961800
|
|
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)
|
rs754986558
|
|
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
|
|
|
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
|
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
NM_002485.5(NBN):c.1000A>T (p.Lys334Ter)
|
|
|
NM_002485.5(NBN):c.1029del (p.Gln344fs)
|
|
|
NM_002485.5(NBN):c.1029dup (p.Gln344fs)
|
rs1563539146
|
|
NM_002485.5(NBN):c.1104dup (p.Ser369fs)
|
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)
|
rs772909239
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
NM_002485.5(NBN):c.11_12del (p.Leu4fs)
|
|
|
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
|
|
|
NM_002485.5(NBN):c.1225del (p.Thr409fs)
|
rs2129720423
|
|
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer)
|
rs2129720196
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1298del (p.Pro433fs)
|
|
|
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)
|
rs1554559094
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
NM_002485.5(NBN):c.1357_1360dup (p.Ser454Ter)
|
|
|
NM_002485.5(NBN):c.1388_1389del (p.Thr463fs)
|
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+1G>A
|
|
|
NM_002485.5(NBN):c.1397+1dup
|
|
|
NM_002485.5(NBN):c.1397+2T>A
|
rs730881850
|
|
NM_002485.5(NBN):c.1398-1G>A
|
|
|
NM_002485.5(NBN):c.1402dup (p.Arg468fs)
|
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1490_1514del (p.Thr497fs)
|
|
|
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)
|
rs772411713
|
|
NM_002485.5(NBN):c.14_23del (p.Leu5fs)
|
rs2129938178
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1523dup (p.Ser509fs)
|
rs1586054199
|
|
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)
|
rs1554558449
|
|
NM_002485.5(NBN):c.1565T>A (p.Leu522Ter)
|
|
|
NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)
|
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1651del (p.Arg551fs)
|
|
|
NM_002485.5(NBN):c.1654dup (p.Glu552fs)
|
rs760237820
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.172-1del
|
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1826del (p.Pro609fs)
|
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1872_1873dup (p.Glu625fs)
|
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
NM_002485.5(NBN):c.1889C>G (p.Ser630Ter)
|
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
|
rs780235686
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs)
|
rs1036111786
|
|
NM_002485.5(NBN):c.2051del (p.Asn684fs)
|
rs1586040200
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2071del
|
rs2130756322
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
NM_002485.5(NBN):c.2166G>A (p.Trp722Ter)
|
|
|
NM_002485.5(NBN):c.217A>T (p.Lys73Ter)
|
rs2129915767
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
|
|
|
NM_002485.5(NBN):c.241del (p.Glu81fs)
|
|
|
NM_002485.5(NBN):c.278C>A (p.Ser93Ter)
|
rs12721593
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)
|
rs1563579387
|
|
NM_002485.5(NBN):c.360_363dup (p.Val122fs)
|
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
NM_002485.5(NBN):c.38-2A>G
|
rs771475965
|
|
NM_002485.5(NBN):c.40G>T (p.Glu14Ter)
|
|
|
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)
|
rs1812023981
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
NM_002485.5(NBN):c.474del (p.Ile159fs)
|
rs1563578540
|
|
NM_002485.5(NBN):c.480+1G>A
|
|
|
NM_002485.5(NBN):c.4del (p.Trp2fs)
|
rs1275657359
|
|
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)
|
rs1198614767
|
|
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)
|
rs1554566610
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.585-1_585delinsC
|
rs786203662
|
|
NM_002485.5(NBN):c.585-2A>G
|
rs772005832
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.702+2T>C
|
rs1811497703
|
|
NM_002485.5(NBN):c.742dup (p.Glu248fs)
|
|
|
NM_002485.5(NBN):c.782del (p.Asn261fs)
|
|
|
NM_002485.5(NBN):c.794dup (p.Pro266fs)
|
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.896+1G>A
|
rs778306619
|
|
NM_002485.5(NBN):c.896+2T>C
|
rs754659423
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.962del (p.Asn321fs)
|
rs1586075907
|
|
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer)
|
rs1811144443
|
|
NM_002485.5(NBN):c.994+1G>A
|
rs1554562083
|
|
NM_002485.5(NBN):c.994+1G>T
|
rs1554562083
|
|
NM_002485.5(NBN):c.995-23_998inv
|
|
|
NM_002641.4(PIGA):c.986T>C (p.Val329Ala)
|
rs1921924356
|
|
NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)
|
|
|
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)
|
rs1326382443
|
|
NM_004629.2(FANCG):c.1144-1G>A
|
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
|
|
|
NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)
|
|
|
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
|
|
|
NM_004629.2(FANCG):c.1434-2A>C
|
rs1829062071
|
|
NM_004629.2(FANCG):c.1480+1G>A
|
|
|
NM_004629.2(FANCG):c.1483del
|
rs760738460
|
|
NM_004629.2(FANCG):c.1636+1G>C
|
|
|
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)
|
rs770263417
|
|
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)
|
rs1829041127
|
|
NM_004629.2(FANCG):c.176-6_190del
|
|
|
NM_004629.2(FANCG):c.1771dup (p.Leu591fs)
|
rs746392434
|
|
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
|
|
|
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)
|
rs1829130135
|
|
NM_004629.2(FANCG):c.272del (p.Asp91fs)
|
|
|
NM_004629.2(FANCG):c.306_307del (p.Arg102fs)
|
|
|
NM_004629.2(FANCG):c.307+1G>A
|
|
|
NM_004629.2(FANCG):c.308-1G>A
|
|
|
NM_004629.2(FANCG):c.347_348del (p.Gln116fs)
|
|
|
NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)
|
|
|
NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)
|
|
|
NM_004629.2(FANCG):c.510+1G>A
|
|
|
NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)
|
|
|
NM_004629.2(FANCG):c.552dup (p.Ser185fs)
|
rs1412207017
|
|
NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)
|
|
|
NM_004629.2(FANCG):c.619del (p.Leu207fs)
|
|
|
NM_004629.2(FANCG):c.682del (p.Ala228fs)
|
|
|
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
|
|
|
NM_004629.2(FANCG):c.713dup (p.Leu239fs)
|
rs2131056549
|
|
NM_004629.2(FANCG):c.721_733del (p.Pro241fs)
|
|
|
NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
|
|
|
NM_004629.2(FANCG):c.797dup (p.Leu267fs)
|
|
|
NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)
|
|
|
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
|
|
|
NM_004629.2(FANCG):c.907del (p.Leu303fs)
|
|
|
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)
|
rs1563986439
|
|
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
|
|
|
NM_004629.2(FANCG):c.941del (p.Cys314fs)
|
|
|
NM_004629.2(FANCG):c.99_103del (p.Gly34fs)
|
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_016038.4(SBDS):c.101A>T (p.Asn34Ile)
|
|
|
NM_016038.4(SBDS):c.115dup (p.Trp39fs)
|
|
|
NM_016038.4(SBDS):c.128+1G>A
|
|
|
NM_016038.4(SBDS):c.129-2A>C
|
|
|
NM_016038.4(SBDS):c.129-71_140del
|
|
|
NM_016038.4(SBDS):c.259-2A>C
|
|
|
NM_016038.4(SBDS):c.428C>T (p.Ser143Leu)
|
|
|
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)
|
rs1411636529
|
|
NM_016038.4(SBDS):c.523del (p.Arg175fs)
|
|
|
NM_016038.4(SBDS):c.624+1G>A
|
|
|
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln)
|
rs757497272
|
|
NM_016038.4(SBDS):c.95A>G (p.Tyr32Cys)
|
rs1131691842
|
|
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)
|
rs373730800
|
|
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
|
|
|
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
|
|
|
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
|
|
|
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
|
|
|
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+1G>C
|
|
|
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
|
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.273+1G>A
|
rs144729980
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
|
|
|
NM_018062.4(FANCL):c.375-2033C>G
|
rs1690571577
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.590del (p.Leu197fs)
|
|
|
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
|
|
|
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
|
|
|
NM_018062.4(FANCL):c.691+2_691+5del
|
|
|
NM_018062.4(FANCL):c.70del (p.Val24fs)
|
|
|
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
|
|
|
NM_018062.4(FANCL):c.738dup (p.Met247fs)
|
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
|
|
|
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
|
|
|
NM_018062.4(FANCL):c.903+1del
|
|
|
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)
|
rs529201454
|
|
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
|
|
|
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
|
|
|
NM_021922.3(FANCE):c.1096del (p.Ser366fs)
|
rs1272613429
|
|
NM_021922.3(FANCE):c.1113+2T>A
|
|
|
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
|
|
|
NM_021922.3(FANCE):c.118del (p.Ala40fs)
|
|
|
NM_021922.3(FANCE):c.1237+1G>A
|
|
|
NM_021922.3(FANCE):c.1238-2A>C
|
|
|
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)
|
rs1561792535
|
|
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
|
|
|
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
|
|
|
NM_021922.3(FANCE):c.1317-1G>A
|
|
|
NM_021922.3(FANCE):c.1383+2T>C
|
|
|
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
|
|
|
NM_021922.3(FANCE):c.248+1G>T
|
|
|
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
|
|
|
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
|
|
|
NM_021922.3(FANCE):c.505del (p.Arg169fs)
|
|
|
NM_021922.3(FANCE):c.524del (p.Gly175fs)
|
rs773363446
|
|
NM_021922.3(FANCE):c.524dup (p.Arg176fs)
|
rs773363446
|
|
NM_021922.3(FANCE):c.538del (p.Ser180fs)
|
|
|
NM_021922.3(FANCE):c.635del (p.Glu212fs)
|
|
|
NM_021922.3(FANCE):c.836del (p.Glu279fs)
|
|
|
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
|
|
|
NM_021922.3(FANCE):c.929del (p.Pro310fs)
|
rs587778337
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
NM_021922.3(FANCE):c.969+1G>A
|
|
|
NM_022725.4(FANCF):c.133_136del (p.His45fs)
|
|
|
NM_022725.4(FANCF):c.167del (p.Thr56fs)
|
|
|
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)
|
|
|
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
|
|
|
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
|
|
|
NM_022725.4(FANCF):c.434del (p.Met145fs)
|
|
|
NM_022725.4(FANCF):c.530_537del (p.Val177fs)
|
|
|
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
|
|
|
NM_022725.4(FANCF):c.736del (p.Glu246fs)
|
|
|
NM_022725.4(FANCF):c.792dup (p.Ser265Ter)
|
|
|
NM_022725.4(FANCF):c.84del (p.Ala29fs)
|
rs1275961745
|
|
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)
|
|
|
NM_022725.4(FANCF):c.943dup (p.Cys315fs)
|
rs1590540654
|
|
NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter)
|
rs1237224833
|
|
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs)
|
rs2040460653
|
|
NM_033084.6(FANCD2):c.2609_2613del
|
|
|
NM_033084.6(FANCD2):c.3107_3108del
|
rs2125059924
|
|