NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)
|
rs201947120
|
0.00016
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_033419.5(PGAP3):c.558-10G>A
|
rs200598755
|
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_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00006
|
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter)
|
rs147622852
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
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_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
NM_020812.4(DOCK6):c.1987C>T (p.Gln663Ter)
|
rs936266747
|
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_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
NM_001164508.2(NEB):c.19836+1G>A
|
rs1446930968
|
0.00003
|
NM_001164508.2(NEB):c.22800+1G>A
|
rs1302373559
|
0.00003
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
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_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)
|
rs104894294
|
0.00002
|
NM_173660.5(DOK7):c.773-2_773-1del
|
rs770163440
|
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_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_001164508.2(NEB):c.11076+1G>A
|
rs1460365350
|
0.00001
|
NM_001164508.2(NEB):c.1153-2A>G
|
rs1553609515
|
0.00001
|
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)
|
rs377182240
|
0.00001
|
NM_001164508.2(NEB):c.12330+2T>C
|
rs1374971806
|
0.00001
|
NM_001164508.2(NEB):c.1258-2A>G
|
rs1553608621
|
0.00001
|
NM_001164508.2(NEB):c.12639+2dup
|
rs2097758186
|
0.00001
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
NM_001164508.2(NEB):c.1470+2dup
|
rs1477702016
|
0.00001
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851
|
0.00001
|
NM_001164508.2(NEB):c.19101+5G>A
|
rs374929094
|
0.00001
|
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233
|
0.00001
|
NM_001164508.2(NEB):c.22375-1G>A
|
rs949331605
|
0.00001
|
NM_001164508.2(NEB):c.22591-1G>C
|
rs757157808
|
0.00001
|
NM_001164508.2(NEB):c.23127+2T>C
|
rs112610938
|
0.00001
|
NM_001164508.2(NEB):c.23451+1G>T
|
rs1011425121
|
0.00001
|
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter)
|
rs1323364980
|
0.00001
|
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)
|
rs1553552413
|
0.00001
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.24393+1G>A
|
rs775631800
|
0.00001
|
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)
|
rs758327681
|
0.00001
|
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)
|
rs1472403020
|
0.00001
|
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter)
|
rs1433028646
|
0.00001
|
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)
|
rs778104284
|
0.00001
|
NM_001164508.2(NEB):c.295-2A>G
|
rs1428300892
|
0.00001
|
NM_001164508.2(NEB):c.3255+2dup
|
rs1276026682
|
0.00001
|
NM_001164508.2(NEB):c.37-1G>A
|
rs1428597732
|
0.00001
|
NM_001164508.2(NEB):c.5344-1G>C
|
rs1197561990
|
0.00001
|
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)
|
rs1032240985
|
0.00001
|
NM_001164508.2(NEB):c.6076-1G>T
|
rs1553469502
|
0.00001
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
NM_001164508.2(NEB):c.9414+1G>T
|
rs1255445731
|
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_005055.5(RAPSN):c.41T>C (p.Leu14Pro)
|
rs104894300
|
0.00001
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)
|
rs560525099
|
0.00001
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
NM_005055.5(RAPSN):c.531+1G>T
|
rs1421354085
|
0.00001
|
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)
|
rs1595903667
|
0.00001
|
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)
|
rs374604570
|
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_173660.5(DOK7):c.496G>A (p.Gly166Arg)
|
rs781227659
|
0.00001
|
GRCh37/hg19 1q21.1(chr1:145395604-145704146)
|
|
|
GRCh37/hg19 2q37.3(chr2:238795602-242918203)
|
|
|
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_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_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_001164508.2(NEB):c.10059C>A (p.Tyr3353Ter)
|
|
|
NM_001164508.2(NEB):c.10144-2A>G
|
rs1435980710
|
|
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
|
|
|
NM_001164508.2(NEB):c.1036-1G>A
|
|
|
NM_001164508.2(NEB):c.10477G>T (p.Glu3493Ter)
|
|
|
NM_001164508.2(NEB):c.10560+1G>C
|
|
|
NM_001164508.2(NEB):c.1057G>T (p.Glu353Ter)
|
|
|
NM_001164508.2(NEB):c.10653_10654dup (p.Ile3552fs)
|
|
|
NM_001164508.2(NEB):c.1069G>T (p.Gly357Ter)
|
|
|
NM_001164508.2(NEB):c.10898G>A (p.Trp3633Ter)
|
|
|
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs)
|
rs1560500587
|
|
NM_001164508.2(NEB):c.11118del (p.His3707fs)
|
|
|
NM_001164508.2(NEB):c.11393del (p.Ile3798fs)
|
|
|
NM_001164508.2(NEB):c.1153-1_1153del
|
|
|
NM_001164508.2(NEB):c.11665G>T (p.Glu3889Ter)
|
|
|
NM_001164508.2(NEB):c.11911-2A>G
|
|
|
NM_001164508.2(NEB):c.12055_12058dup (p.His4020fs)
|
|
|
NM_001164508.2(NEB):c.12065del (p.Gly4022fs)
|
|
|
NM_001164508.2(NEB):c.12182del (p.Pro4061fs)
|
rs2097886912
|
|
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
|
|
|
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs)
|
rs1553883480
|
|
NM_001164508.2(NEB):c.12330+5G>A
|
rs763163879
|
|
NM_001164508.2(NEB):c.1258A>T (p.Lys420Ter)
|
|
|
NM_001164508.2(NEB):c.1264del (p.Tyr422fs)
|
|
|
NM_001164508.2(NEB):c.12808C>T (p.Gln4270Ter)
|
|
|
NM_001164508.2(NEB):c.1280T>A (p.Leu427Ter)
|
|
|
NM_001164508.2(NEB):c.12853C>T (p.Gln4285Ter)
|
|
|
NM_001164508.2(NEB):c.13076_13085del (p.Asp4359fs)
|
|
|
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter)
|
rs1278785558
|
|
NM_001164508.2(NEB):c.13115dup (p.Ser4373fs)
|
|
|
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter)
|
rs2153930733
|
|
NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)
|
|
|
NM_001164508.2(NEB):c.133_146del (p.Ser45fs)
|
rs1321522421
|
|
NM_001164508.2(NEB):c.1365+1G>A
|
|
|
NM_001164508.2(NEB):c.1395_1398dup (p.Gly467fs)
|
|
|
NM_001164508.2(NEB):c.14741G>A (p.Trp4914Ter)
|
|
|
NM_001164508.2(NEB):c.14786del (p.Leu4929fs)
|
|
|
NM_001164508.2(NEB):c.14794C>T (p.Gln4932Ter)
|
|
|
NM_001164508.2(NEB):c.14817dup (p.Ile4940fs)
|
|
|
NM_001164508.2(NEB):c.14871T>A (p.Tyr4957Ter)
|
|
|
NM_001164508.2(NEB):c.1517_1518del (p.Thr506fs)
|
|
|
NM_001164508.2(NEB):c.1526del (p.Pro509fs)
|
rs1181351466
|
|
NM_001164508.2(NEB):c.16252C>T (p.Gln5418Ter)
|
|
|
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter)
|
rs1064796311
|
|
NM_001164508.2(NEB):c.16463del (p.Pro5488fs)
|
|
|
NM_001164508.2(NEB):c.16467dup (p.Leu5490fs)
|
|
|
NM_001164508.2(NEB):c.1674+1G>A
|
rs750585238
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.16756C>T (p.Gln5586Ter)
|
|
|
NM_001164508.2(NEB):c.168_171dup (p.Ala58fs)
|
|
|
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
|
|
|
NM_001164508.2(NEB):c.17362C>T (p.Gln5788Ter)
|
|
|
NM_001164508.2(NEB):c.17456G>A (p.Trp5819Ter)
|
|
|
NM_001164508.2(NEB):c.17737-1G>A
|
|
|
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
|
|
|
NM_001164508.2(NEB):c.18157-2A>G
|
rs925947627
|
|
NM_001164508.2(NEB):c.18290_18294delinsGTATAC (p.Asn6097fs)
|
|
|
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs)
|
rs747282057
|
|
NM_001164508.2(NEB):c.18585dup (p.Tyr6196fs)
|
|
|
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)
|
|
|
NM_001164508.2(NEB):c.18751dup (p.Met6251fs)
|
|
|
NM_001164508.2(NEB):c.18884dup (p.Leu6295fs)
|
|
|
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)
|
rs1559940778
|
|
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)
|
rs2153702280
|
|
NM_001164508.2(NEB):c.1921A>T (p.Lys641Ter)
|
|
|
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter)
|
rs2153700128
|
|
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter)
|
rs1335300113
|
|
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter)
|
rs2095359371
|
|
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
|
|
|
NM_001164508.2(NEB):c.20290del (p.Met6764fs)
|
|
|
NM_001164508.2(NEB):c.20320_20323del (p.Thr6774fs)
|
|
|
NM_001164508.2(NEB):c.20441_20445dup (p.Arg6816fs)
|
|
|
NM_001164508.2(NEB):c.20551C>T (p.Gln6851Ter)
|
|
|
NM_001164508.2(NEB):c.20578-1G>C
|
|
|
NM_001164508.2(NEB):c.20659dup (p.Arg6887fs)
|
|
|
NM_001164508.2(NEB):c.2075_2076del (p.His692fs)
|
rs2149163148
|
|
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
|
|
|
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
|
|
|
NM_001164508.2(NEB):c.21153del (p.Tyr7052fs)
|
|
|
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
|
|
|
NM_001164508.2(NEB):c.21538del (p.Glu7180fs)
|
|
|
NM_001164508.2(NEB):c.21630+2T>C
|
|
|
NM_001164508.2(NEB):c.21714dup (p.Ala7239fs)
|
|
|
NM_001164508.2(NEB):c.21736-2A>G
|
rs1389892619
|
|
NM_001164508.2(NEB):c.2178T>G (p.Tyr726Ter)
|
|
|
NM_001164508.2(NEB):c.21957_21963del (p.Lys7319fs)
|
|
|
NM_001164508.2(NEB):c.22009C>T (p.Gln7337Ter)
|
|
|
NM_001164508.2(NEB):c.2204_2205del (p.Gln734_Cys735insTer)
|
|
|
NM_001164508.2(NEB):c.22051-2A>C
|
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.2212-1G>A
|
rs2149103521
|
|
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)
|
rs1235589246
|
|
NM_001164508.2(NEB):c.22215_22220delinsGC (p.Ile7405fs)
|
|
|
NM_001164508.2(NEB):c.22240_22241insTAGC (p.His7414fs)
|
|
|
NM_001164508.2(NEB):c.22272+1G>A
|
|
|
NM_001164508.2(NEB):c.22272+2_22272+3del
|
rs2153447342
|
|
NM_001164508.2(NEB):c.22272+2dup
|
rs773465809
|
|
NM_001164508.2(NEB):c.22375-1G>C
|
|
|
NM_001164508.2(NEB):c.22389del (p.Lys7464fs)
|
|
|
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His)
|
rs1474341248
|
|
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
|
|
|
NM_001164508.2(NEB):c.22613del (p.Lys7538fs)
|
|
|
NM_001164508.2(NEB):c.22695+1G>A
|
|
|
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
|
|
|
NM_001164508.2(NEB):c.22880_22881del (p.Lys7627fs)
|
|
|
NM_001164508.2(NEB):c.22883_22884del (p.Glu7628fs)
|
|
|
NM_001164508.2(NEB):c.22891C>T (p.Gln7631Ter)
|
|
|
NM_001164508.2(NEB):c.22906-1G>C
|
|
|
NM_001164508.2(NEB):c.23116del (p.Ile7706fs)
|
|
|
NM_001164508.2(NEB):c.23127+2T>A
|
|
|
NM_001164508.2(NEB):c.23133_23144delinsG (p.Tyr7712fs)
|
rs2153276539
|
|
NM_001164508.2(NEB):c.23149G>T (p.Glu7717Ter)
|
|
|
NM_001164508.2(NEB):c.2328del (p.Lys776fs)
|
|
|
NM_001164508.2(NEB):c.23347-2A>G
|
|
|
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs)
|
rs1559360386
|
|
NM_001164508.2(NEB):c.23355C>G (p.Tyr7785Ter)
|
|
|
NM_001164508.2(NEB):c.23451+1G>C
|
rs1011425121
|
|
NM_001164508.2(NEB):c.23452-1G>A
|
|
|
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs)
|
rs762780413
|
|
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)
|
rs537560378
|
|
NM_001164508.2(NEB):c.23645_23646delinsCCGACCACTGTG (p.Ser7882fs)
|
|
|
NM_001164508.2(NEB):c.23650-2A>T
|
|
|
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs)
|
rs756612643
|
|
NM_001164508.2(NEB):c.23836-1G>A
|
|
|
NM_001164508.2(NEB):c.23939_23940del (p.Lys7980fs)
|
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs)
|
rs2064466448
|
|
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs)
|
rs748550315
|
|
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs)
|
rs748550315
|
|
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs)
|
rs2064439011
|
|
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)
|
rs1553568357
|
|
NM_001164508.2(NEB):c.24022-1G>A
|
rs1553561697
|
|
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)
|
rs772009599
|
|
NM_001164508.2(NEB):c.24051del (p.Ile8018fs)
|
rs758105619
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
NM_001164508.2(NEB):c.24129_24130delinsTAGC (p.Glu8043fs)
|
|
|
NM_001164508.2(NEB):c.24131del (p.Asn8044fs)
|
|
|
NM_001164508.2(NEB):c.24166_24169dup (p.Met8057fs)
|
|
|
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)
|
rs2061721973
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24248del (p.Pro8083fs)
|
|
|
NM_001164508.2(NEB):c.2424_2425del (p.Tyr808_Lys809delinsTer)
|
|
|
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs)
|
rs1559217202
|
|
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)
|
rs1553551748
|
|
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
|
|
|
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
|
|
|
NM_001164508.2(NEB):c.24361_24364dup (p.Val8122fs)
|
|
|
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)
|
rs752582527
|
|
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs)
|
rs2152876577
|
|
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)
|
rs1553537512
|
|
NM_001164508.2(NEB):c.24579+1G>A
|
|
|
NM_001164508.2(NEB):c.24579+1G>C
|
|
|
NM_001164508.2(NEB):c.24615dup (p.Thr8206fs)
|
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs)
|
rs761067911
|
|
NM_001164508.2(NEB):c.24772_24778delinsA (p.Tyr8258_Asp8260delinsAsn)
|
|
|
NM_001164508.2(NEB):c.25057+1G>A
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25151-2A>G
|
|
|
NM_001164508.2(NEB):c.25158_25170del (p.Gln8387fs)
|
|
|
NM_001164508.2(NEB):c.25276_25277del (p.Gly8426fs)
|
|
|
NM_001164508.2(NEB):c.25291_25292del (p.Ser8431fs)
|
|
|
NM_001164508.2(NEB):c.25404+1G>A
|
|
|
NM_001164508.2(NEB):c.25404+1G>T
|
|
|
NM_001164508.2(NEB):c.25405-1G>A
|
|
|
NM_001164508.2(NEB):c.25408_25409del (p.Ile8470fs)
|
|
|
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter)
|
rs2152620357
|
|
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter)
|
rs1333519240
|
|
NM_001164508.2(NEB):c.2783dup (p.Pro928_Asp929insTer)
|
|
|
NM_001164508.2(NEB):c.288_290delinsAA (p.Phe96fs)
|
|
|
NM_001164508.2(NEB):c.3042+2T>G
|
|
|
NM_001164508.2(NEB):c.3123del (p.Val1042fs)
|
|
|
NM_001164508.2(NEB):c.3184A>T (p.Lys1062Ter)
|
|
|
NM_001164508.2(NEB):c.3384del (p.Asp1129fs)
|
rs2099386045
|
|
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer)
|
rs1159756073
|
|
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
|
|
|
NM_001164508.2(NEB):c.3537_3540del (p.Ser1180fs)
|
|
|
NM_001164508.2(NEB):c.3541A>T (p.Lys1181Ter)
|
|
|
NM_001164508.2(NEB):c.3567+1G>C
|
rs587780399
|
|
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)
|
rs748453057
|
|
NM_001164508.2(NEB):c.3691del (p.His1231fs)
|
|
|
NM_001164508.2(NEB):c.3908dup (p.Leu1303fs)
|
|
|
NM_001164508.2(NEB):c.4022_4023dup (p.Lys1342fs)
|
|
|
NM_001164508.2(NEB):c.403-2A>G
|
|
|
NM_001164508.2(NEB):c.403-6_405del
|
rs1553689774
|
|
NM_001164508.2(NEB):c.4048C>T (p.Gln1350Ter)
|
|
|
NM_001164508.2(NEB):c.4300-1G>C
|
|
|
NM_001164508.2(NEB):c.4346_4355del (p.Trp1449fs)
|
|
|
NM_001164508.2(NEB):c.4356del (p.Ile1452fs)
|
|
|
NM_001164508.2(NEB):c.4379del (p.Val1460fs)
|
|
|
NM_001164508.2(NEB):c.4506+1G>A
|
rs112517981
|
|
NM_001164508.2(NEB):c.4623del (p.Ala1542fs)
|
rs1559039815
|
|
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter)
|
rs2154179061
|
|
NM_001164508.2(NEB):c.4918_4922del (p.Ser1640fs)
|
|
|
NM_001164508.2(NEB):c.496_499del (p.Gln166fs)
|
rs1340063197
|
|
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
|
|
|
NM_001164508.2(NEB):c.5229dup (p.Met1744fs)
|
rs2154176971
|
|
NM_001164508.2(NEB):c.528G>A (p.Trp176Ter)
|
|
|
NM_001164508.2(NEB):c.5292del (p.Asp1765fs)
|
|
|
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter)
|
rs201636991
|
|
NM_001164508.2(NEB):c.5422_5424delinsCT (p.Ala1808fs)
|
|
|
NM_001164508.2(NEB):c.5451+1G>A
|
|
|
NM_001164508.2(NEB):c.5457_5459delinsT (p.Lys1819fs)
|
|
|
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs)
|
rs2154172729
|
|
NM_001164508.2(NEB):c.5741dup (p.Asn1914fs)
|
|
|
NM_001164508.2(NEB):c.5907T>G (p.Tyr1969Ter)
|
|
|
NM_001164508.2(NEB):c.5976_5977dup (p.Tyr1993fs)
|
|
|
NM_001164508.2(NEB):c.5999dup (p.Asp2000fs)
|
|
|
NM_001164508.2(NEB):c.613-1G>A
|
rs767693366
|
|
NM_001164508.2(NEB):c.6365del (p.Val2122fs)
|
|
|
NM_001164508.2(NEB):c.6634C>T (p.Gln2212Ter)
|
|
|
NM_001164508.2(NEB):c.6690_6700del (p.His2230fs)
|
|
|
NM_001164508.2(NEB):c.6747del (p.His2249fs)
|
|
|
NM_001164508.2(NEB):c.6752_6753insATCA (p.Met2251fs)
|
|
|
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)
|
rs1180339426
|
|
NM_001164508.2(NEB):c.6818_6819dup (p.Leu2274fs)
|
|
|
NM_001164508.2(NEB):c.6824del (p.Gly2275fs)
|
rs2099060040
|
|
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
|
|
|
NM_001164508.2(NEB):c.6993del (p.Val2332fs)
|
rs2099021112
|
|
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
|
|
|
NM_001164508.2(NEB):c.717+1G>A
|
rs1577833924
|
|
NM_001164508.2(NEB):c.7227+1G>A
|
|
|
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
|
|
|
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
|
|
|
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
|
|
|
NM_001164508.2(NEB):c.771del (p.Asp258fs)
|
|
|
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys)
|
rs1389374032
|
|
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)
|
rs1057516676
|
|
NM_001164508.2(NEB):c.8276dup (p.Leu2760fs)
|
|
|
NM_001164508.2(NEB):c.8293del (p.Ala2765fs)
|
|
|
NM_001164508.2(NEB):c.8422del (p.Ala2808fs)
|
|
|
NM_001164508.2(NEB):c.843T>G (p.Tyr281Ter)
|
|
|
NM_001164508.2(NEB):c.8445dup (p.Lys2816fs)
|
|
|
NM_001164508.2(NEB):c.8516G>A (p.Trp2839Ter)
|
|
|
NM_001164508.2(NEB):c.8728del (p.Trp2910fs)
|
|
|
NM_001164508.2(NEB):c.934del (p.Tyr312fs)
|
rs2150020225
|
|
NM_001164508.2(NEB):c.935dup (p.Tyr312Ter)
|
|
|
NM_001164508.2(NEB):c.936C>G (p.Tyr312Ter)
|
|
|
NM_001164508.2(NEB):c.9414+1G>A
|
rs1255445731
|
|
NM_001164508.2(NEB):c.9441G>A (p.Trp3147Ter)
|
|
|
NM_001164508.2(NEB):c.9449del (p.Gly3150fs)
|
|
|
NM_001164508.2(NEB):c.9709del (p.Ile3237fs)
|
|
|
NM_001164508.2(NEB):c.9779del (p.Ser3260fs)
|
|
|
NM_001271208.1(NEB):c.7291G>A
|
rs767302772
|
|
NM_001346754.2(PIGW):c.1321_1324del (p.Ile441fs)
|
rs2074173475
|
|
NM_001378183.1(PIEZO2):c.1379-1G>A
|
|
|
NM_001378183.1(PIEZO2):c.1577G>A (p.Trp526Ter)
|
|
|
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)
|
rs953108559
|
|
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr)
|
rs1601639958
|
|
NM_002653.5(PITX1):c.414G>T (p.Lys138Asn)
|
rs1752408604
|
|
NM_004247.4(EFTUD2):c.2309T>C (p.Phe770Ser)
|
|
|
NM_004247.4(EFTUD2):c.793del (p.Leu265fs)
|
|
|
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)
|
rs886041286
|
|
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)
|
rs1555471931
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
|
|
|
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_005055.5(RAPSN):c.1142dup (p.Cys382fs)
|
|
|
NM_005055.5(RAPSN):c.1174C>T (p.Gln392Ter)
|
|
|
NM_005055.5(RAPSN):c.11dup (p.Asp4fs)
|
rs1565689206
|
|
NM_005055.5(RAPSN):c.1207del (p.Arg403fs)
|
|
|
NM_005055.5(RAPSN):c.157del (p.His53fs)
|
|
|
NM_005055.5(RAPSN):c.193-5_201del
|
|
|
NM_005055.5(RAPSN):c.210del (p.Ile70fs)
|
rs760999895
|
|
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
|
|
|
NM_005055.5(RAPSN):c.300_319del (p.His100fs)
|
rs2153311290
|
|
NM_005055.5(RAPSN):c.39del (p.Leu14fs)
|
|
|
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)
|
rs2153311231
|
|
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)
|
rs142635726
|
|
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)
|
|
|
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)
|
rs1595899478
|
|
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
|
|
|
NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)
|
|
|
NM_005055.5(RAPSN):c.86G>A (p.Trp29Ter)
|
|
|
NM_005055.5(RAPSN):c.913-1G>C
|
|
|
NM_005055.5(RAPSN):c.967-2A>G
|
|
|
NM_005445.4(SMC3):c.1450GCT[1] (p.Ala485del)
|
rs1564792181
|
|
NM_005445.4(SMC3):c.2111T>C (p.Ile704Thr)
|
rs1564794233
|
|
NM_005445.4(SMC3):c.3362C>T (p.Ser1121Phe)
|
rs1564796294
|
|
NM_005445.4(SMC3):c.587T>C (p.Ile196Thr)
|
rs797045070
|
|
NM_006306.4(SMC1A):c.110G>T (p.Gly37Val)
|
rs1569359540
|
|
NM_006306.4(SMC1A):c.128A>T (p.Asp43Val)
|
rs1569359535
|
|
NM_006306.4(SMC1A):c.1546-2A>C
|
|
|
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)
|
rs1569356550
|
|
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)
|
rs1556886124
|
|
NM_006306.4(SMC1A):c.3196C>A (p.Arg1066Ser)
|
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_012243.3(SLC35A3):c.634+2dup
|
rs1570615526
|
|
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser)
|
rs1843232044
|
|
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_018486.3(HDAC8):c.527A>G (p.Asp176Gly)
|
rs1057518727
|
|
NM_018486.3(HDAC8):c.584T>A (p.Val195Asp)
|
rs1556009247
|
|
NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser)
|
rs1602975455
|
|
NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg)
|
rs1569318004
|
|
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
|
|
NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter)
|
|
|
NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro)
|
rs1561164598
|
|
NM_133433.4(NIPBL):c.5709+1G>A
|
rs587783979
|
|
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro)
|
rs1561207924
|
|
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr)
|
rs886042231
|
|
NM_173660.5(DOK7):c.1164C>A (p.Cys388Ter)
|
|
|
NM_173660.5(DOK7):c.1185C>G (p.Tyr395Ter)
|
|
|
NM_173660.5(DOK7):c.1243_1340del (p.Pro415fs)
|
|
|
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
|
|
|
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter)
|
rs1728650830
|
|
NM_173660.5(DOK7):c.1323del (p.Cys442fs)
|
rs1210035894
|
|
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
|
|
|
NM_173660.5(DOK7):c.1356_1360del (p.Leu454fs)
|
|
|
NM_173660.5(DOK7):c.1417G>T (p.Glu473Ter)
|
|
|
NM_173660.5(DOK7):c.1476_1477insA (p.Pro493fs)
|
|
|
NM_173660.5(DOK7):c.1501_1502del (p.Asn501fs)
|
|
|
NM_173660.5(DOK7):c.28del (p.Gln10fs)
|
rs1560200925
|
|
NM_173660.5(DOK7):c.332-1G>A
|
rs1490214819
|
|
NM_173660.5(DOK7):c.391_394dup (p.His132fs)
|
|
|
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
|
|
|
NM_173660.5(DOK7):c.415G>C (p.Val139Leu)
|
rs571769859
|
|
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
|
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
NM_173660.5(DOK7):c.536_540del (p.Ala179fs)
|
|
|
NM_173660.5(DOK7):c.550del (p.Leu184fs)
|
|
|
NM_173660.5(DOK7):c.682G>T (p.Glu228Ter)
|
|
|
NM_173660.5(DOK7):c.743_746dup (p.His250fs)
|
rs1560224831
|
|
NM_173660.5(DOK7):c.746C>G (p.Ser249Ter)
|
|
|
NM_173660.5(DOK7):c.812_815dup (p.His272fs)
|
|
|
NM_173660.5(DOK7):c.851G>A (p.Trp284Ter)
|
|
|
NM_173660.5(DOK7):c.872C>G (p.Ser291Ter)
|
|
|
NM_173660.5(DOK7):c.884C>G (p.Ser295Ter)
|
|
|
NM_173660.5(DOK7):c.944C>G (p.Ser315Ter)
|
|
|
NM_173660.5(DOK7):c.957dup (p.Lys320fs)
|
rs794727884
|
|
NM_173660.5(DOK7):c.976C>T (p.Gln326Ter)
|
|
|
NM_181486.4(TBX5):c.704G>A (p.Gly235Glu)
|
rs1870765797
|
|