NM_000135.4(FANCA):c.3934+55T>A
|
rs7195906
|
0.53795
|
NM_000135.4(FANCA):c.*673del
|
rs17233826
|
0.48664
|
NM_000135.4(FANCA):c.3935-16C>T
|
rs1061646
|
0.40513
|
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=)
|
rs11649210
|
0.11105
|
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)
|
rs9282681
|
0.05868
|
NM_000135.4(FANCA):c.*679del
|
rs375657470
|
0.04486
|
NM_000135.4(FANCA):c.*986G>A
|
rs16966023
|
0.04351
|
NM_000135.4(FANCA):c.*673A>G
|
rs62704561
|
0.03426
|
NM_000135.4(FANCA):c.*252G>C
|
rs17233797
|
0.03296
|
NM_000135.4(FANCA):c.*385C>G
|
rs17227424
|
0.02929
|
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)
|
rs17227354
|
0.02526
|
NM_000135.4(FANCA):c.*287G>A
|
rs17227417
|
0.02259
|
NM_000135.4(FANCA):c.*670G>T
|
rs17233812
|
0.01850
|
NM_000135.4(FANCA):c.*1011C>T
|
rs17227452
|
0.01670
|
NM_000135.4(FANCA):c.*679T>G
|
rs17233833
|
0.01627
|
NM_000135.4(FANCA):c.3935-9G>A
|
rs9282680
|
0.01028
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)
|
rs17227361
|
0.00286
|
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)
|
rs74977201
|
0.00176
|
NM_000135.4(FANCA):c.*654C>T
|
rs17227438
|
0.00151
|
NM_000135.4(FANCA):c.*172G>A
|
rs577149121
|
0.00090
|
NM_000135.4(FANCA):c.*843C>T
|
rs201316239
|
0.00086
|
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)
|
rs149531696
|
0.00072
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_000135.4(FANCA):c.*937A>G
|
rs55794507
|
0.00051
|
NM_000135.4(FANCA):c.4261-8T>G
|
rs372268907
|
0.00049
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
NM_000135.4(FANCA):c.*138T>A
|
rs775549018
|
0.00032
|
NM_000135.4(FANCA):c.*521C>T
|
rs144644592
|
0.00030
|
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=)
|
rs141128234
|
0.00030
|
NM_000135.4(FANCA):c.*144G>C
|
rs575606938
|
0.00029
|
NM_000135.4(FANCA):c.*819T>C
|
rs186050933
|
0.00024
|
NM_000135.4(FANCA):c.*146C>T
|
rs556325258
|
0.00022
|
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)
|
rs143772894
|
0.00022
|
NM_000135.4(FANCA):c.3829-9G>A
|
rs776077648
|
0.00022
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
NM_000135.4(FANCA):c.*104G>A
|
rs55859244
|
0.00019
|
NM_000135.4(FANCA):c.*286C>T
|
rs17233804
|
0.00019
|
NM_000135.4(FANCA):c.*317G>A
|
rs201817705
|
0.00019
|
NM_000135.4(FANCA):c.3912A>G (p.Ala1304=)
|
rs545021222
|
0.00019
|
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
|
rs146975341
|
0.00017
|
NM_000135.4(FANCA):c.3934+74C>G
|
rs56216970
|
0.00016
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
NM_000135.4(FANCA):c.*250G>A
|
rs557319516
|
0.00013
|
NM_000135.4(FANCA):c.3935-6T>C
|
rs368376237
|
0.00012
|
NM_000135.4(FANCA):c.4261-9C>G
|
rs368506826
|
0.00012
|
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)
|
rs138144828
|
0.00009
|
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)
|
rs774576283
|
0.00009
|
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)
|
rs199652831
|
0.00009
|
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)
|
rs139478274
|
0.00009
|
NM_000135.4(FANCA):c.4010+8C>T
|
rs763049986
|
0.00008
|
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=)
|
rs17227389
|
0.00008
|
NM_000135.4(FANCA):c.*447T>C
|
rs771942409
|
0.00006
|
NM_000135.4(FANCA):c.3766-14G>A
|
rs34476949
|
0.00006
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)
|
rs374649848
|
0.00006
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln)
|
rs370507983
|
0.00006
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
|
rs201658945
|
0.00006
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)
|
rs374984587
|
0.00006
|
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
|
rs144171225
|
0.00005
|
NM_000135.4(FANCA):c.*166G>A
|
rs886052479
|
0.00004
|
NM_000135.4(FANCA):c.*42A>T
|
rs529748804
|
0.00004
|
NM_000135.4(FANCA):c.3997T>C (p.Phe1333Leu)
|
rs576079738
|
0.00004
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
NM_000135.4(FANCA):c.4084T>C (p.Leu1362=)
|
rs775351812
|
0.00004
|
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)
|
rs760814763
|
0.00004
|
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=)
|
rs368985041
|
0.00004
|
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=)
|
rs367630825
|
0.00004
|
NM_000135.4(FANCA):c.*672G>C
|
rs17233819
|
0.00003
|
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile)
|
rs1443680543
|
0.00003
|
NM_000135.4(FANCA):c.3924G>A (p.Leu1308=)
|
rs775127240
|
0.00003
|
NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr)
|
rs925649874
|
0.00003
|
NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly)
|
rs778544563
|
0.00003
|
NM_000135.4(FANCA):c.4038G>A (p.Ala1346=)
|
rs755479861
|
0.00003
|
NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser)
|
rs750839091
|
0.00003
|
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile)
|
rs1254151716
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000135.4(FANCA):c.4365C>T (p.Phe1455=)
|
rs1440013855
|
0.00003
|
NM_000135.4(FANCA):c.*1C>T
|
rs370357192
|
0.00002
|
NM_000135.4(FANCA):c.3876C>T (p.Leu1292=)
|
rs878934420
|
0.00002
|
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro)
|
rs1219627612
|
0.00002
|
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)
|
rs201886956
|
0.00002
|
NM_000135.4(FANCA):c.4040C>T (p.Ala1347Val)
|
rs766710139
|
0.00002
|
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)
|
rs753944130
|
0.00002
|
NM_000135.4(FANCA):c.4168-4C>A
|
rs775180524
|
0.00002
|
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe)
|
rs752245802
|
0.00002
|
NM_000135.4(FANCA):c.4222C>A (p.Pro1408Thr)
|
rs767206558
|
0.00002
|
NM_000135.4(FANCA):c.4241G>A (p.Ser1414Asn)
|
rs772122405
|
0.00002
|
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)
|
rs145148206
|
0.00002
|
NM_000135.4(FANCA):c.4261-18C>G
|
rs781731674
|
0.00002
|
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)
|
rs769243354
|
0.00002
|
NM_000135.4(FANCA):c.4299C>T (p.Ser1433=)
|
rs568293451
|
0.00002
|
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs)
|
rs1030509993
|
0.00002
|
NM_000135.4(FANCA):c.*625C>T
|
rs779094661
|
0.00001
|
NM_000135.4(FANCA):c.*851G>A
|
rs886052478
|
0.00001
|
NM_000135.4(FANCA):c.3766-2A>G
|
rs1219402916
|
0.00001
|
NM_000135.4(FANCA):c.3768A>G (p.Leu1256=)
|
rs747616573
|
0.00001
|
NM_000135.4(FANCA):c.3802C>T (p.Leu1268=)
|
rs143982249
|
0.00001
|
NM_000135.4(FANCA):c.3804G>A (p.Leu1268=)
|
rs1449170388
|
0.00001
|
NM_000135.4(FANCA):c.3805C>T (p.Leu1269=)
|
rs757641646
|
0.00001
|
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu)
|
rs752800577
|
0.00001
|
NM_000135.4(FANCA):c.3813dup (p.His1272fs)
|
rs1555534521
|
0.00001
|
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
|
rs759514393
|
0.00001
|
NM_000135.4(FANCA):c.3822C>T (p.Thr1274=)
|
rs1382340096
|
0.00001
|
NM_000135.4(FANCA):c.3829-10C>T
|
rs374510260
|
0.00001
|
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn)
|
rs914045767
|
0.00001
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
0.00001
|
NM_000135.4(FANCA):c.3849G>T (p.Lys1283Asn)
|
rs749869884
|
0.00001
|
NM_000135.4(FANCA):c.3857A>C (p.His1286Pro)
|
rs138620653
|
0.00001
|
NM_000135.4(FANCA):c.3858C>T (p.His1286=)
|
rs761705192
|
0.00001
|
NM_000135.4(FANCA):c.3861T>A (p.Val1287=)
|
rs1227504086
|
0.00001
|
NM_000135.4(FANCA):c.3870A>G (p.Ala1290=)
|
rs780156842
|
0.00001
|
NM_000135.4(FANCA):c.3893G>C (p.Arg1298Thr)
|
rs1261384324
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.3934+10dup
|
rs755153673
|
0.00001
|
NM_000135.4(FANCA):c.3934+9C>T
|
rs201323033
|
0.00001
|
NM_000135.4(FANCA):c.3935-4G>A
|
rs1392135704
|
0.00001
|
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp)
|
rs200215131
|
0.00001
|
NM_000135.4(FANCA):c.3951G>C (p.Arg1317=)
|
rs1439529670
|
0.00001
|
NM_000135.4(FANCA):c.3953T>G (p.Leu1318Arg)
|
rs1439125894
|
0.00001
|
NM_000135.4(FANCA):c.3954C>G (p.Leu1318=)
|
rs187297609
|
0.00001
|
NM_000135.4(FANCA):c.3960C>T (p.Leu1320=)
|
rs541385700
|
0.00001
|
NM_000135.4(FANCA):c.3969C>T (p.Ala1323=)
|
rs1337959697
|
0.00001
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
NM_000135.4(FANCA):c.3972G>C (p.Pro1324=)
|
rs1446370085
|
0.00001
|
NM_000135.4(FANCA):c.4010+12C>T
|
rs1445940471
|
0.00001
|
NM_000135.4(FANCA):c.4010+14C>T
|
rs1339996571
|
0.00001
|
NM_000135.4(FANCA):c.4010+4C>T
|
rs1206285832
|
0.00001
|
NM_000135.4(FANCA):c.4011-20C>T
|
rs766594215
|
0.00001
|
NM_000135.4(FANCA):c.4011-3_4011-2del
|
rs911481295
|
0.00001
|
NM_000135.4(FANCA):c.4011-4C>G
|
rs372364590
|
0.00001
|
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe)
|
rs112734327
|
0.00001
|
NM_000135.4(FANCA):c.4029T>C (p.His1343=)
|
rs745577614
|
0.00001
|
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln)
|
rs761934804
|
0.00001
|
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)
|
rs747892390
|
0.00001
|
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter)
|
rs745688750
|
0.00001
|
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His)
|
rs1041491550
|
0.00001
|
NM_000135.4(FANCA):c.4099C>G (p.Leu1367Val)
|
rs2062056417
|
0.00001
|
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)
|
rs1060501882
|
0.00001
|
NM_000135.4(FANCA):c.4159A>G (p.Lys1387Glu)
|
rs1436768029
|
0.00001
|
NM_000135.4(FANCA):c.4167+2C>T
|
rs374765708
|
0.00001
|
NM_000135.4(FANCA):c.4167+4G>A
|
rs370080063
|
0.00001
|
NM_000135.4(FANCA):c.4168-11T>C
|
rs753475025
|
0.00001
|
NM_000135.4(FANCA):c.4183C>T (p.Leu1395=)
|
rs780156946
|
0.00001
|
NM_000135.4(FANCA):c.4186A>G (p.Ile1396Val)
|
rs1376923890
|
0.00001
|
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)
|
rs1441175300
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=)
|
rs1379441535
|
0.00001
|
NM_000135.4(FANCA):c.4251C>T (p.His1417=)
|
rs752333498
|
0.00001
|
NM_000135.4(FANCA):c.4254G>C (p.Val1418=)
|
rs200284171
|
0.00001
|
NM_000135.4(FANCA):c.4261-11C>T
|
rs2062032586
|
0.00001
|
NM_000135.4(FANCA):c.4264C>T (p.Leu1422=)
|
rs753660236
|
0.00001
|
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)
|
rs147406377
|
0.00001
|
NM_000135.4(FANCA):c.4298G>A (p.Ser1433Asn)
|
rs747310276
|
0.00001
|
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=)
|
rs371228419
|
0.00001
|
NM_000135.4(FANCA):c.4337C>T (p.Ala1446Val)
|
rs2062029094
|
0.00001
|
NM_000135.4(FANCA):c.4338T>C (p.Ala1446=)
|
rs746256466
|
0.00001
|
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del
|
|
|
NC_000016.10:g.(89739290_89739477)_(89783103_89784853)del
|
|
|
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del
|
|
|
NC_000016.10:g.(89740100_89740803)_(89740867_89742799)del
|
|
|
NC_000016.10:g.(89740100_89740803)_(89799233_89799604)del
|
|
|
NC_000016.10:g.(89740100_89740803)_(89816657_?)del
|
|
|
NC_000016.10:g.(89740867_89742799)_(89779958_89782858)del
|
|
|
NC_000016.10:g.(89740867_89742799)_(89816657_?)del
|
|
|
NC_000016.10:g.(?_89737551)_(89740100_89740803)del
|
|
|
NC_000016.10:g.(?_89737551)_(89740867_89742799)del
|
|
|
NC_000016.10:g.(?_89737551)_(89752222_89758576)del
|
|
|
NC_000016.10:g.(?_89737551)_(89752223_89758576)del
|
|
|
NC_000016.10:g.(?_89737551)_(89758706_89761948)del
|
|
|
NC_000016.10:g.(?_89737551)_(89765067_89767140)del
|
|
|
NC_000016.10:g.(?_89737551)_(89767238_89769836)del
|
|
|
NC_000016.10:g.(?_89737551)_(89784965_89791402)del
|
|
|
NC_000016.10:g.(?_89737551)_(89799639_89803258)del
|
|
|
NC_000016.10:g.(?_89737551)_(89814614_89815876)del
|
|
|
NC_000016.10:g.(?_89737551)_(89815987_89816536)del
|
|
|
NC_000016.10:g.(?_89737551)_(89816657_?)del
|
|
|
NC_000016.10:g.(?_89738591)_(89742948_?)del
|
|
|
NC_000016.10:g.(?_89738591)_(89762032_?)del
|
|
|
NC_000016.10:g.(?_89738601)_(89816616_?)dup
|
|
|
NC_000016.9:g.(89806508_89807211)_(89816311_89818545)del
|
|
|
NC_000016.9:g.(89806508_89807211)_(89851373_89857810)del
|
|
|
NC_000016.9:g.(89807275_89809207)_(89851373_89857810)del
|
|
|
NC_000016.9:g.(?_89802587)_(89816264_?)del
|
|
|
NC_000016.9:g.(?_89804999)_(89825128_?)del
|
|
|
NC_000016.9:g.(?_89804999)_(89871810_?)del
|
|
|
NC_000016.9:g.(?_89804999)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89806517_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89807294_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89809366_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89813308_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89816330_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89818650_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89818822_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89825123_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89825133_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89831484_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89833665_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89849520_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89851382_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89858965_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89862436_?)del
|
|
|
NC_000016.9:g.(?_89805009)_(89866066_?)dup
|
|
|
NC_000016.9:g.(?_89805009)_(89883024_?)del
|
|
|
NC_000016.9:g.(?_89805097)_(89808330_?)del
|
|
|
NC_000016.9:g.(?_89805270)_(89806527_?)dup
|
|
|
NC_000016.9:g.(?_89805270)_(89807294_?)dup
|
|
|
NC_000016.9:g.(?_89805866)_(89831494_?)del
|
|
|
NC_000016.9:g.(?_89806382)_(89807294_?)del
|
|
|
NC_000016.9:g.(?_89807192)_(89809366_?)del
|
|
|
NC_000016.9:g.(?_89807202)_(89883024_?)del
|
|
|
NM_000135.4(FANCA):c.*1012A>G
|
rs886052477
|
|
NM_000135.4(FANCA):c.*109C>T
|
rs55679217
|
|
NM_000135.4(FANCA):c.*154G>A
|
rs1230
|
|
NM_000135.4(FANCA):c.*672del
|
rs66471129
|
|
NM_000135.4(FANCA):c.3766-12T>C
|
|
|
NM_000135.4(FANCA):c.3766-14_3766-13dup
|
|
|
NM_000135.4(FANCA):c.3766-15C>G
|
rs749085160
|
|
NM_000135.4(FANCA):c.3766-15C>T
|
rs749085160
|
|
NM_000135.4(FANCA):c.3766-16A>T
|
|
|
NM_000135.4(FANCA):c.3766-18G>A
|
|
|
NM_000135.4(FANCA):c.3766-19T>C
|
rs927937594
|
|
NM_000135.4(FANCA):c.3766-1G>A
|
|
|
NM_000135.4(FANCA):c.3766-20G>T
|
|
|
NM_000135.4(FANCA):c.3766-22_3766-20del
|
|
|
NM_000135.4(FANCA):c.3766-3C>T
|
|
|
NM_000135.4(FANCA):c.3766-5T>C
|
rs2151716900
|
|
NM_000135.4(FANCA):c.3766C>G (p.Leu1256Val)
|
|
|
NM_000135.4(FANCA):c.3768A>C (p.Leu1256=)
|
|
|
NM_000135.4(FANCA):c.3768A>T (p.Leu1256=)
|
rs747616573
|
|
NM_000135.4(FANCA):c.3771G>A (p.Leu1257=)
|
rs1402327994
|
|
NM_000135.4(FANCA):c.3771G>T (p.Leu1257Phe)
|
rs1402327994
|
|
NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del)
|
rs2062115822
|
|
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del)
|
rs1157717956
|
|
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)
|
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000135.4(FANCA):c.3782del (p.Phe1261fs)
|
|
|
NM_000135.4(FANCA):c.3783C>G (p.Phe1261Leu)
|
|
|
NM_000135.4(FANCA):c.3783C>T (p.Phe1261=)
|
rs2062115689
|
|
NM_000135.4(FANCA):c.3783del (p.Phe1262fs)
|
|
|
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu)
|
rs1555534579
|
|
NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu)
|
rs2062115605
|
|
NM_000135.4(FANCA):c.3786C>T (p.Phe1262=)
|
|
|
NM_000135.4(FANCA):c.3788T>A (p.Phe1263Tyr)
|
|
|
NM_000135.4(FANCA):c.3788T>C (p.Phe1263Ser)
|
rs2062115558
|
|
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer)
|
|
|
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
|
rs1183256870
|
|
NM_000135.4(FANCA):c.3792C>G (p.Ser1264=)
|
|
|
NM_000135.4(FANCA):c.3792_3794del (p.Leu1265del)
|
rs2151716800
|
|
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
|
NM_000135.4(FANCA):c.3795G>A (p.Leu1265=)
|
rs1010989878
|
|
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe)
|
rs1010989878
|
|
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
|
|
|
NM_000135.4(FANCA):c.3801C>G (p.Gly1267=)
|
rs143772894
|
|
NM_000135.4(FANCA):c.3804G>C (p.Leu1268=)
|
rs1449170388
|
|
NM_000135.4(FANCA):c.3807G>A (p.Leu1269=)
|
|
|
NM_000135.4(FANCA):c.3809C>A (p.Ser1270Ter)
|
rs752800577
|
|
NM_000135.4(FANCA):c.3810G>C (p.Ser1270=)
|
rs138144828
|
|
NM_000135.4(FANCA):c.3810G>T (p.Ser1270=)
|
rs138144828
|
|
NM_000135.4(FANCA):c.3813A>T (p.Ser1271=)
|
|
|
NM_000135.4(FANCA):c.3814C>T (p.His1272Tyr)
|
rs2062114648
|
|
NM_000135.4(FANCA):c.3815A>G (p.His1272Arg)
|
|
|
NM_000135.4(FANCA):c.3818dup (p.Thr1274fs)
|
|
|
NM_000135.4(FANCA):c.3819G>A (p.Leu1273=)
|
|
|
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=)
|
rs1382340096
|
|
NM_000135.4(FANCA):c.3824C>G (p.Ser1275Ter)
|
|
|
NM_000135.4(FANCA):c.3829-14C>G
|
|
|
NM_000135.4(FANCA):c.3829-14C>T
|
rs762916608
|
|
NM_000135.4(FANCA):c.3829-16C>G
|
|
|
NM_000135.4(FANCA):c.3829-1G>C
|
rs2062090760
|
|
NM_000135.4(FANCA):c.3829-4A>T
|
rs2151714907
|
|
NM_000135.4(FANCA):c.3829-71_3868del
|
|
|
NM_000135.4(FANCA):c.3829-7T>C
|
|
|
NM_000135.4(FANCA):c.3829-8G>A
|
|
|
NM_000135.4(FANCA):c.3829-9G>T
|
rs776077648
|
|
NM_000135.4(FANCA):c.3834C>T (p.Thr1278=)
|
|
|
NM_000135.4(FANCA):c.3837A>G (p.Thr1279=)
|
rs2151714884
|
|
NM_000135.4(FANCA):c.3841C>T (p.Leu1281=)
|
rs2151714870
|
|
NM_000135.4(FANCA):c.3846A>C (p.Pro1282=)
|
rs2151714851
|
|
NM_000135.4(FANCA):c.3846A>G (p.Pro1282=)
|
rs2151714851
|
|
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
|
|
|
NM_000135.4(FANCA):c.3847_3857del (p.Lys1283fs)
|
rs2062089925
|
|
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)
|
rs142919010
|
|
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)
|
rs142919010
|
|
NM_000135.4(FANCA):c.3851C>A (p.Ala1284Asp)
|
|
|
NM_000135.4(FANCA):c.3853T>C (p.Phe1285Leu)
|
rs1470679036
|
|
NM_000135.4(FANCA):c.3855C>A (p.Phe1285Leu)
|
|
|
NM_000135.4(FANCA):c.3855C>T (p.Phe1285=)
|
|
|
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln)
|
rs761705192
|
|
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe)
|
rs17227354
|
|
NM_000135.4(FANCA):c.3863G>T (p.Cys1288Phe)
|
rs2062089641
|
|
NM_000135.4(FANCA):c.3865G>C (p.Ala1289Pro)
|
rs2151714785
|
|
NM_000135.4(FANCA):c.3867A>T (p.Ala1289=)
|
|
|
NM_000135.4(FANCA):c.3869C>T (p.Ala1290Val)
|
|
|
NM_000135.4(FANCA):c.3871A>G (p.Ile1291Val)
|
rs547572315
|
|
NM_000135.4(FANCA):c.3873C>A (p.Ile1291=)
|
rs2062089414
|
|
NM_000135.4(FANCA):c.3876_3877delinsAA (p.Glu1293Lys)
|
|
|
NM_000135.4(FANCA):c.3877G>A (p.Glu1293Lys)
|
rs1015729981
|
|
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)
|
rs2062089336
|
|
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3884T>C (p.Leu1295Ser)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3888G>A (p.Glu1296=)
|
rs1204611147
|
|
NM_000135.4(FANCA):c.3889A>G (p.Lys1297Glu)
|
|
|
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs)
|
rs1555534060
|
|
NM_000135.4(FANCA):c.3896_3898del (p.Lys1299del)
|
|
|
NM_000135.4(FANCA):c.3897G>C (p.Lys1299Asn)
|
|
|
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val)
|
rs1232415717
|
|
NM_000135.4(FANCA):c.3900A>C (p.Ile1300=)
|
rs2151714696
|
|
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
|
|
|
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)
|
rs765162125
|
|
NM_000135.4(FANCA):c.3901dup (p.Ser1301fs)
|
rs2151714692
|
|
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg)
|
rs878853665
|
|
NM_000135.4(FANCA):c.3906G>A (p.Trp1302Ter)
|
|
|
NM_000135.4(FANCA):c.3907C>T (p.Leu1303=)
|
rs2151714673
|
|
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro)
|
rs1598055304
|
|
NM_000135.4(FANCA):c.3909G>A (p.Leu1303=)
|
|
|
NM_000135.4(FANCA):c.3910del (p.Ala1304fs)
|
rs2151714666
|
|
NM_000135.4(FANCA):c.3912A>T (p.Ala1304=)
|
rs545021222
|
|
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs)
|
rs748453841
|
|
NM_000135.4(FANCA):c.3916T>C (p.Phe1306Leu)
|
|
|
NM_000135.4(FANCA):c.3917_3918del (p.Phe1306fs)
|
rs1281446470
|
|
NM_000135.4(FANCA):c.3918T>C (p.Phe1306=)
|
rs2151714638
|
|
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)
|
rs1281446470
|
|
NM_000135.4(FANCA):c.3919C>G (p.Gln1307Glu)
|
|
|
NM_000135.4(FANCA):c.3919C>T (p.Gln1307Ter)
|
|
|
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
|
rs2151714613
|
|
NM_000135.4(FANCA):c.3920del (p.Gln1307fs)
|
rs1228394297
|
|
NM_000135.4(FANCA):c.3922T>C (p.Leu1308=)
|
|
|
NM_000135.4(FANCA):c.3924G>T (p.Leu1308Phe)
|
rs775127240
|
|
NM_000135.4(FANCA):c.3926_3929del (p.Thr1309fs)
|
rs2062087915
|
|
NM_000135.4(FANCA):c.3927dup (p.Glu1310fs)
|
rs2151714603
|
|
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
|
|
|
NM_000135.4(FANCA):c.3930G>A (p.Glu1310=)
|
rs2151714594
|
|
NM_000135.4(FANCA):c.3930G>C (p.Glu1310Asp)
|
rs2151714594
|
|
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)
|
rs1403231932
|
|
NM_000135.4(FANCA):c.3932G>A (p.Ser1311Asn)
|
rs2062087829
|
|
NM_000135.4(FANCA):c.3934+10_3934+11del
|
rs1491270557
|
|
NM_000135.4(FANCA):c.3934+11C>T
|
|
|
NM_000135.4(FANCA):c.3934+12G>A
|
|
|
NM_000135.4(FANCA):c.3934+13C>A
|
|
|
NM_000135.4(FANCA):c.3934+16_3934+18del
|
|
|
NM_000135.4(FANCA):c.3934+1G>A
|
rs2062087795
|
|
NM_000135.4(FANCA):c.3934+1_3934+18del
|
rs2062086999
|
|
NM_000135.4(FANCA):c.3934+20G>A
|
rs2151714503
|
|
NM_000135.4(FANCA):c.3934+2T>C
|
rs771775516
|
|
NM_000135.4(FANCA):c.3934+4A>G
|
rs2062087707
|
|
NM_000135.4(FANCA):c.3934+5G>A
|
|
|
NM_000135.4(FANCA):c.3934+7_3934+8del
|
rs2151714552
|
|
NM_000135.4(FANCA):c.3934+8A>T
|
|
|
NM_000135.4(FANCA):c.3934+9C>G
|
rs201323033
|
|
NM_000135.4(FANCA):c.3935-10G>C
|
rs2062071933
|
|
NM_000135.4(FANCA):c.3935-16_3935-15delinsTC
|
rs2151713121
|
|
NM_000135.4(FANCA):c.3935-1G>A
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-1G>T
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-20G>A
|
|
|
NM_000135.4(FANCA):c.3935-2A>T
|
rs1189106357
|
|
NM_000135.4(FANCA):c.3935-3C>G
|
|
|
NM_000135.4(FANCA):c.3935-7G>A
|
rs2062071481
|
|
NM_000135.4(FANCA):c.3935-9G>C
|
rs9282680
|
|
NM_000135.4(FANCA):c.3936C>T (p.Asp1312=)
|
|
|
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe)
|
rs551306400
|
|
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
|
|
|
NM_000135.4(FANCA):c.3939C>T (p.Leu1313=)
|
|
|
NM_000135.4(FANCA):c.3940A>C (p.Arg1314=)
|
|
|
NM_000135.4(FANCA):c.3945G>A (p.Leu1315=)
|
rs941282193
|
|
NM_000135.4(FANCA):c.3945G>C (p.Leu1315=)
|
rs941282193
|
|
NM_000135.4(FANCA):c.3948G>A (p.Gly1316=)
|
|
|
NM_000135.4(FANCA):c.3951G>A (p.Arg1317=)
|
rs1439529670
|
|
NM_000135.4(FANCA):c.3952C>G (p.Leu1318Val)
|
rs2151712993
|
|
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)
|
rs927201841
|
|
NM_000135.4(FANCA):c.3954C>T (p.Leu1318=)
|
rs187297609
|
|
NM_000135.4(FANCA):c.3955C>T (p.Leu1319Phe)
|
|
|
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
|
|
|
NM_000135.4(FANCA):c.3957C>T (p.Leu1319=)
|
|
|
NM_000135.4(FANCA):c.3961C>A (p.Arg1321Ser)
|
rs755375493
|
|
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
|
rs755375493
|
|
NM_000135.4(FANCA):c.3962G>C (p.Arg1321Pro)
|
rs374649848
|
|
NM_000135.4(FANCA):c.3966G>A (p.Val1322=)
|
|
|
NM_000135.4(FANCA):c.3970C>T (p.Pro1324Ser)
|
rs2151712907
|
|
NM_000135.4(FANCA):c.3972G>A (p.Pro1324=)
|
|
|
NM_000135.4(FANCA):c.3973G>C (p.Asp1325His)
|
rs2062069547
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.3975T>G (p.Asp1325Glu)
|
rs962823945
|
|
NM_000135.4(FANCA):c.3976C>G (p.Gln1326Glu)
|
|
|
NM_000135.4(FANCA):c.3976C>T (p.Gln1326Ter)
|
|
|
NM_000135.4(FANCA):c.3981_3982inv (p.Thr1328Ala)
|
|
|
NM_000135.4(FANCA):c.3984C>A (p.Thr1328=)
|
rs917010763
|
|
NM_000135.4(FANCA):c.3988C>A (p.Leu1330Met)
|
|
|
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del)
|
rs1555533593
|
|
NM_000135.4(FANCA):c.3990G>C (p.Leu1330=)
|
|
|
NM_000135.4(FANCA):c.3996T>A (p.Pro1332=)
|
|
|
NM_000135.4(FANCA):c.3998dup (p.Ala1334fs)
|
|
|
NM_000135.4(FANCA):c.3999C>A (p.Phe1333Leu)
|
rs774576283
|
|
NM_000135.4(FANCA):c.4004T>C (p.Phe1335Ser)
|
|
|
NM_000135.4(FANCA):c.4006_4007insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCTTTCGCTTTTT (p.Tyr1336delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000135.4(FANCA):c.4008C>T (p.Tyr1336=)
|
rs1278514199
|
|
NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly)
|
rs1268944859
|
|
NM_000135.4(FANCA):c.4010+11C>A
|
|
|
NM_000135.4(FANCA):c.4010+11C>T
|
|
|
NM_000135.4(FANCA):c.4010+13A>T
|
|
|
NM_000135.4(FANCA):c.4010+14C>A
|
|
|
NM_000135.4(FANCA):c.4010+15_4010+20del
|
|
|
NM_000135.4(FANCA):c.4010+16G>A
|
|
|
NM_000135.4(FANCA):c.4010+17G>T
|
rs1318852669
|
|
NM_000135.4(FANCA):c.4010+18del
|
|
|
NM_000135.4(FANCA):c.4010+19C>T
|
rs978377623
|
|
NM_000135.4(FANCA):c.4010+1G>A
|
rs2062067810
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000135.4(FANCA):c.4010+20T>G
|
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
NM_000135.4(FANCA):c.4010+5C>T
|
rs1353285713
|
|
NM_000135.4(FANCA):c.4010+7C>T
|
|
|
NM_000135.4(FANCA):c.4010+9A>C
|
rs1383806921
|
|
NM_000135.4(FANCA):c.4010+9A>G
|
rs1383806921
|
|
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn)
|
rs2062067864
|
|
NM_000135.4(FANCA):c.4010_4010+18del
|
rs2062066871
|
|
NM_000135.4(FANCA):c.4011-14G>A
|
|
|
NM_000135.4(FANCA):c.4011-15T>C
|
|
|
NM_000135.4(FANCA):c.4011-16_4011-15del
|
|
|
NM_000135.4(FANCA):c.4011-19A>G
|
rs2151712162
|
|
NM_000135.4(FANCA):c.4011-1G>A
|
rs761988162
|
|
NM_000135.4(FANCA):c.4011-1G>C
|
rs761988162
|
|
NM_000135.4(FANCA):c.4011-3T>C
|
rs1257557473
|
|
NM_000135.4(FANCA):c.4011-6C>T
|
|
|
NM_000135.4(FANCA):c.4011-7C>T
|
rs1463777596
|
|
NM_000135.4(FANCA):c.4011-8A>C
|
|
|
NM_000135.4(FANCA):c.4011-9T>C
|
rs2151712130
|
|
NM_000135.4(FANCA):c.4014T>C (p.Leu1338=)
|
rs2151712093
|
|
NM_000135.4(FANCA):c.4015C>G (p.Leu1339Val)
|
|
|
NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del)
|
rs2062060149
|
|
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)
|
rs773113065
|
|
NM_000135.4(FANCA):c.4020C>T (p.Ser1340=)
|
|
|
NM_000135.4(FANCA):c.4020del (p.Tyr1341fs)
|
|
|
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser)
|
rs768733593
|
|
NM_000135.4(FANCA):c.4022A>G (p.Tyr1341Cys)
|
|
|
NM_000135.4(FANCA):c.4023C>T (p.Tyr1341=)
|
|
|
NM_000135.4(FANCA):c.4025T>G (p.Phe1342Cys)
|
|
|
NM_000135.4(FANCA):c.4026C>A (p.Phe1342Leu)
|
|
|
NM_000135.4(FANCA):c.4026C>T (p.Phe1342=)
|
rs775186188
|
|
NM_000135.4(FANCA):c.4029T>G (p.His1343Gln)
|
rs745577614
|
|
NM_000135.4(FANCA):c.4033G>C (p.Asp1345His)
|
|
|
NM_000135.4(FANCA):c.4038G>T (p.Ala1346=)
|
rs755479861
|
|
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr)
|
rs751928369
|
|
NM_000135.4(FANCA):c.4041C>A (p.Ala1347=)
|
|
|
NM_000135.4(FANCA):c.4041C>T (p.Ala1347=)
|
rs2062058480
|
|
NM_000135.4(FANCA):c.4045A>C (p.Arg1349=)
|
|
|
NM_000135.4(FANCA):c.4053G>A (p.Glu1351=)
|
rs1477796994
|
|
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
|
rs1477796994
|
|
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
|
rs2062057880
|
|
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs)
|
rs1567593047
|
|
NM_000135.4(FANCA):c.4060C>T (p.Leu1354=)
|
rs2151711931
|
|
NM_000135.4(FANCA):c.4061T>C (p.Leu1354Pro)
|
|
|
NM_000135.4(FANCA):c.4062G>A (p.Leu1354=)
|
|
|
NM_000135.4(FANCA):c.4062G>T (p.Leu1354=)
|
|
|
NM_000135.4(FANCA):c.4064A>C (p.His1355Pro)
|
|
|
NM_000135.4(FANCA):c.4064A>G (p.His1355Arg)
|
|
|
NM_000135.4(FANCA):c.4064_4065dup (p.Val1356fs)
|
rs2062057713
|
|
NM_000135.4(FANCA):c.4068T>C (p.Val1356=)
|
|
|
NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro)
|
rs1456500627
|
|
NM_000135.4(FANCA):c.4070C>T (p.Ala1357Val)
|
|
|
NM_000135.4(FANCA):c.4071T>G (p.Ala1357=)
|
rs764090579
|
|
NM_000135.4(FANCA):c.4075G>C (p.Asp1359His)
|
rs1555533313
|
|
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)
|
rs1555533313
|
|
NM_000135.4(FANCA):c.4078A>G (p.Met1360Val)
|
|
|
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile)
|
rs1555533300
|
|
NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile)
|
rs1555533300
|
|
NM_000135.4(FANCA):c.4083_4084insG (p.Leu1362fs)
|
rs2062057035
|
|
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val)
|
rs775351812
|
|
NM_000135.4(FANCA):c.4088A>G (p.Lys1363Arg)
|
rs773947543
|
|
NM_000135.4(FANCA):c.4093G>C (p.Val1365Leu)
|
rs529210242
|
|
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)
|
rs1336834251
|
|
NM_000135.4(FANCA):c.4098G>A (p.Gln1366=)
|
|
|
NM_000135.4(FANCA):c.4099C>T (p.Leu1367Phe)
|
|
|
NM_000135.4(FANCA):c.4100_4167+2del
|
|
|
NM_000135.4(FANCA):c.4101C>T (p.Leu1367=)
|
|
|
NM_000135.4(FANCA):c.4104C>T (p.Phe1368=)
|
rs375237681
|
|
NM_000135.4(FANCA):c.4105G>A (p.Val1369Met)
|
rs201225325
|
|
NM_000135.4(FANCA):c.4105G>C (p.Val1369Leu)
|
rs201225325
|
|
NM_000135.4(FANCA):c.4110dup (p.Gly1371fs)
|
|
|
NM_000135.4(FANCA):c.4111G>A (p.Gly1371Arg)
|
|
|
NM_000135.4(FANCA):c.4115del (p.Asp1372fs)
|
|
|
NM_000135.4(FANCA):c.4116T>C (p.Asp1372=)
|
|
|
NM_000135.4(FANCA):c.4116dup (p.Thr1373fs)
|
rs1567592815
|
|
NM_000135.4(FANCA):c.4118C>G (p.Thr1373Arg)
|
rs1277481284
|
|
NM_000135.4(FANCA):c.4123_4139del (p.Thr1375fs)
|
rs2062054591
|
|
NM_000135.4(FANCA):c.4124C>T (p.Thr1375Ile)
|
rs2062055389
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
NM_000135.4(FANCA):c.4126G>A (p.Val1376Ile)
|
|
|
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
|
rs1209384219
|
|
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)
|
rs199599393
|
|
NM_000135.4(FANCA):c.4132C>T (p.Pro1378Ser)
|
rs2062055110
|
|
NM_000135.4(FANCA):c.4135C>A (p.Pro1379Thr)
|
|
|
NM_000135.4(FANCA):c.4137A>G (p.Pro1379=)
|
rs1172262659
|
|
NM_000135.4(FANCA):c.4138G>A (p.Ala1380Thr)
|
rs775234845
|
|
NM_000135.4(FANCA):c.4138G>C (p.Ala1380Pro)
|
rs775234845
|
|
NM_000135.4(FANCA):c.4144A>C (p.Arg1382=)
|
|
|
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr)
|
rs367970303
|
|
NM_000135.4(FANCA):c.4147A>G (p.Ser1383Gly)
|
rs2062054242
|
|
NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg)
|
|
|
NM_000135.4(FANCA):c.4149C>T (p.Ser1383=)
|
rs2151711619
|
|
NM_000135.4(FANCA):c.4152G>A (p.Leu1384=)
|
rs2062054135
|
|
NM_000135.4(FANCA):c.4155G>A (p.Glu1385=)
|
rs770551622
|
|
NM_000135.4(FANCA):c.4155G>C (p.Glu1385Asp)
|
rs770551622
|
|
NM_000135.4(FANCA):c.4158C>G (p.Leu1386=)
|
rs1366841040
|
|
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
|
|
|
NM_000135.4(FANCA):c.4164_4167+13del
|
|
|
NM_000135.4(FANCA):c.4167+11G>C
|
|
|
NM_000135.4(FANCA):c.4167+12G>A
|
rs2151711547
|
|
NM_000135.4(FANCA):c.4167+15C>T
|
|
|
NM_000135.4(FANCA):c.4167+17G>A
|
|
|
NM_000135.4(FANCA):c.4167+19C>A
|
|
|
NM_000135.4(FANCA):c.4167+1G>A
|
|
|
NM_000135.4(FANCA):c.4167+20C>A
|
|
|
NM_000135.4(FANCA):c.4167+5G>A
|
|
|
NM_000135.4(FANCA):c.4167+74del
|
|
|
NM_000135.4(FANCA):c.4167+8C>G
|
rs772665586
|
|
NM_000135.4(FANCA):c.4167+8dup
|
|
|
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His)
|
rs1598051449
|
|
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His)
|
rs1598051449
|
|
NM_000135.4(FANCA):c.4168-10T>C
|
rs2151711012
|
|
NM_000135.4(FANCA):c.4168-13G>C
|
|
|
NM_000135.4(FANCA):c.4168-14T>C
|
rs2151711032
|
|
NM_000135.4(FANCA):c.4168-19T>G
|
|
|
NM_000135.4(FANCA):c.4168-1G>A
|
|
|
NM_000135.4(FANCA):c.4168-1G>C
|
rs2062047006
|
|
NM_000135.4(FANCA):c.4168-2A>G
|
rs1220672299
|
|
NM_000135.4(FANCA):c.4168-4C>T
|
rs775180524
|
|
NM_000135.4(FANCA):c.4168-5T>C
|
rs2151710982
|
|
NM_000135.4(FANCA):c.4168-6C>G
|
|
|
NM_000135.4(FANCA):c.4168-6C>T
|
|
|
NM_000135.4(FANCA):c.4168-8C>G
|
rs1235913738
|
|
NM_000135.4(FANCA):c.4168-8CT[2]
|
rs2062047195
|
|
NM_000135.4(FANCA):c.4168-9T>C
|
rs1235253861
|
|
NM_000135.4(FANCA):c.4168-9T>G
|
rs1235253861
|
|
NM_000135.4(FANCA):c.4169G>T (p.Gly1390Val)
|
rs2062046761
|
|
NM_000135.4(FANCA):c.4173C>T (p.Asn1391=)
|
|
|
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser)
|
|
|
NM_000135.4(FANCA):c.4176C>G (p.Pro1392=)
|
rs776860862
|
|
NM_000135.4(FANCA):c.4176C>T (p.Pro1392=)
|
rs776860862
|
|
NM_000135.4(FANCA):c.4182A>G (p.Glu1394=)
|
|
|
NM_000135.4(FANCA):c.4185dup (p.Ile1396fs)
|
rs2062046121
|
|
NM_000135.4(FANCA):c.4186A>T (p.Ile1396Leu)
|
rs1376923890
|
|
NM_000135.4(FANCA):c.4187T>A (p.Ile1396Lys)
|
|
|
NM_000135.4(FANCA):c.4187T>C (p.Ile1396Thr)
|
|
|
NM_000135.4(FANCA):c.4190C>A (p.Thr1397Lys)
|
|
|
NM_000135.4(FANCA):c.4193A>G (p.Lys1398Arg)
|
|
|
NM_000135.4(FANCA):c.4195G>A (p.Ala1399Thr)
|
rs749574677
|
|
NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro)
|
rs749574677
|
|
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val)
|
rs1457671800
|
|
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)
|
rs149851163
|
|
NM_000135.4(FANCA):c.4200T>A (p.Arg1400=)
|
|
|
NM_000135.4(FANCA):c.4200T>C (p.Arg1400=)
|
rs2151710848
|
|
NM_000135.4(FANCA):c.4209G>A (p.Leu1403=)
|
|
|
NM_000135.4(FANCA):c.4213C>T (p.Gln1405Ter)
|
rs2151710810
|
|
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
|
|
|
NM_000135.4(FANCA):c.4232C>A (p.Pro1411Gln)
|
rs201494304
|
|
NM_000135.4(FANCA):c.4236A>G (p.Lys1412=)
|
|
|
NM_000135.4(FANCA):c.4239G>A (p.Lys1413=)
|
|
|
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)
|
rs2062043035
|
|
NM_000135.4(FANCA):c.4241G>C (p.Ser1414Thr)
|
rs772122405
|
|
NM_000135.4(FANCA):c.4242C>T (p.Ser1414=)
|
rs745958661
|
|
NM_000135.4(FANCA):c.4245C>T (p.Phe1415=)
|
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
|
NM_000135.4(FANCA):c.4250_4251del (p.His1417fs)
|
|
|
NM_000135.4(FANCA):c.4253T>C (p.Val1418Ala)
|
|
|
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)
|
|
|
NM_000135.4(FANCA):c.4255del (p.Ala1419fs)
|
rs2151710687
|
|
NM_000135.4(FANCA):c.4257_4260+16delinsTTCTCA
|
|
|
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs)
|
rs1555532946
|
|
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)
|
rs984285795
|
|
NM_000135.4(FANCA):c.4260+13dup
|
|
|
NM_000135.4(FANCA):c.4260+14G>A
|
|
|
NM_000135.4(FANCA):c.4260+16C>T
|
|
|
NM_000135.4(FANCA):c.4260+19C>A
|
|
|
NM_000135.4(FANCA):c.4260+1G>A
|
rs1060501887
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
|
NM_000135.4(FANCA):c.4260+20C>T
|
rs1019949093
|
|
NM_000135.4(FANCA):c.4260+29T>C
|
rs1800359
|
|
NM_000135.4(FANCA):c.4260+2T>A
|
rs1555532943
|
|
NM_000135.4(FANCA):c.4260+5C>T
|
|
|
NM_000135.4(FANCA):c.4260+6G>A
|
rs374793201
|
|
NM_000135.4(FANCA):c.4260+6G>C
|
rs374793201
|
|
NM_000135.4(FANCA):c.4260+6G>T
|
rs374793201
|
|
NM_000135.4(FANCA):c.4260+7T>G
|
|
|
NM_000135.4(FANCA):c.4260+8_4260+31del
|
rs2151710539
|
|
NM_000135.4(FANCA):c.4260+9A>G
|
rs2151710610
|
|
NM_000135.4(FANCA):c.4260G>C (p.Glu1420Asp)
|
rs2151710661
|
|
NM_000135.4(FANCA):c.4261-10T>C
|
rs2151710055
|
|
NM_000135.4(FANCA):c.4261-10TC[2]
|
|
|
NM_000135.4(FANCA):c.4261-10TC[4]
|
rs746081933
|
|
NM_000135.4(FANCA):c.4261-11_4261-9del
|
rs2151710048
|
|
NM_000135.4(FANCA):c.4261-12C>A
|
|
|
NM_000135.4(FANCA):c.4261-12C>T
|
rs751989527
|
|
NM_000135.4(FANCA):c.4261-13T>A
|
rs2151710077
|
|
NM_000135.4(FANCA):c.4261-16T>C
|
|
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NM_000135.4(FANCA):c.4261-17C>G
|
|
|
NM_000135.4(FANCA):c.4261-18C>T
|
|
|
NM_000135.4(FANCA):c.4261-19_4261-12del
|
rs1567591276
|
|
NM_000135.4(FANCA):c.4261-20G>T
|
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.4261-3C>G
|
rs765478990
|
|
NM_000135.4(FANCA):c.4261-4A>T
|
rs2062032155
|
|
NM_000135.4(FANCA):c.4261-5C>T
|
rs2151710015
|
|
NM_000135.4(FANCA):c.4261-75_4261-60del
|
|
|
NM_000135.4(FANCA):c.4261-7C>G
|
|
|
NM_000135.4(FANCA):c.4261-8T>C
|
rs372268907
|
|
NM_000135.4(FANCA):c.4261-9C>T
|
rs368506826
|
|
NM_000135.4(FANCA):c.4264C>A (p.Leu1422Met)
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|
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NM_000135.4(FANCA):c.4264C>G (p.Leu1422Val)
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|
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NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)
|
rs2062027006
|
|
NM_000135.4(FANCA):c.4269T>C (p.Ala1423=)
|
rs764113707
|
|
NM_000135.4(FANCA):c.4272T>C (p.Asp1424=)
|
rs2151709956
|
|
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly)
|
rs587778321
|
|
NM_000135.4(FANCA):c.4274G>C (p.Arg1425Pro)
|
rs147406377
|
|
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
|
rs1598048941
|
|
NM_000135.4(FANCA):c.4276G>C (p.Gly1426Arg)
|
|
|
NM_000135.4(FANCA):c.4277G>T (p.Gly1426Val)
|
rs1350768758
|
|
NM_000135.4(FANCA):c.4278G>A (p.Gly1426=)
|
rs2151709922
|
|
NM_000135.4(FANCA):c.4279dup (p.Asp1427fs)
|
|
|
NM_000135.4(FANCA):c.4281C>T (p.Asp1427=)
|
rs1598048898
|
|
NM_000135.4(FANCA):c.4283G>C (p.Cys1428Ser)
|
|
|
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.4285_4288dup (p.Pro1430fs)
|
rs2049528619
|
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NM_000135.4(FANCA):c.4286_4300dup (p.Ser1433_Ala1434insAspProGluValSer)
|
|
|
NM_000135.4(FANCA):c.4287C>T (p.Asp1429=)
|
rs2151709886
|
|
NM_000135.4(FANCA):c.4288C>G (p.Pro1430Ala)
|
|
|
NM_000135.4(FANCA):c.4291G>A (p.Glu1431Lys)
|
rs1567591125
|
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NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln)
|
rs1567591125
|
|
NM_000135.4(FANCA):c.4293G>A (p.Glu1431=)
|
|
|
NM_000135.4(FANCA):c.4293G>C (p.Glu1431Asp)
|
rs1235881790
|
|
NM_000135.4(FANCA):c.4294G>A (p.Val1432Met)
|
|
|
NM_000135.4(FANCA):c.4295T>G (p.Val1432Gly)
|
|
|
NM_000135.4(FANCA):c.4296G>A (p.Val1432=)
|
rs2151709848
|
|
NM_000135.4(FANCA):c.4296G>T (p.Val1432=)
|
|
|
NM_000135.4(FANCA):c.4299C>G (p.Ser1433Arg)
|
rs568293451
|
|
NM_000135.4(FANCA):c.4307T>A (p.Leu1436His)
|
|
|
NM_000135.4(FANCA):c.4308C>T (p.Leu1436=)
|
rs199937973
|
|
NM_000135.4(FANCA):c.4311G>A (p.Gln1437=)
|
|
|
NM_000135.4(FANCA):c.4313G>A (p.Ser1438Asn)
|
|
|
NM_000135.4(FANCA):c.4314C>T (p.Ser1438=)
|
|
|
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)
|
rs587778322
|
|
NM_000135.4(FANCA):c.4317A>G (p.Arg1439=)
|
|
|
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter)
|
rs767234774
|
|
NM_000135.4(FANCA):c.4319del (p.Gln1440fs)
|
rs2151709763
|
|
NM_000135.4(FANCA):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=)
|
rs1555532716
|
|
NM_000135.4(FANCA):c.4328C>T (p.Ala1443Val)
|
|
|
NM_000135.4(FANCA):c.4330C>G (p.Pro1444Ala)
|
|
|
NM_000135.4(FANCA):c.4333G>A (p.Asp1445Asn)
|
rs769025633
|
|
NM_000135.4(FANCA):c.4335C>G (p.Asp1445Glu)
|
|
|
NM_000135.4(FANCA):c.4335C>T (p.Asp1445=)
|
rs374830555
|
|
NM_000135.4(FANCA):c.4336G>A (p.Ala1446Thr)
|
|
|
NM_000135.4(FANCA):c.4336G>T (p.Ala1446Ser)
|
|
|
NM_000135.4(FANCA):c.4341C>T (p.Asp1447=)
|
|
|
NM_000135.4(FANCA):c.4342C>T (p.Leu1448=)
|
|
|
NM_000135.4(FANCA):c.4343T>G (p.Leu1448Arg)
|
rs1223154937
|
|
NM_000135.4(FANCA):c.4344_4356del (p.Ser1449fs)
|
|
|
NM_000135.4(FANCA):c.4346C>G (p.Ser1449Cys)
|
rs779236651
|
|
NM_000135.4(FANCA):c.4347C>A (p.Ser1449=)
|
rs2151709677
|
|
NM_000135.4(FANCA):c.4349A>G (p.Gln1450Arg)
|
rs757549007
|
|
NM_000135.4(FANCA):c.4350G>A (p.Gln1450=)
|
rs749315540
|
|
NM_000135.4(FANCA):c.4351G>C (p.Glu1451Gln)
|
rs1043241541
|
|
NM_000135.4(FANCA):c.4354C>T (p.Pro1452Ser)
|
rs1489574740
|
|
NM_000135.4(FANCA):c.4355C>G (p.Pro1452Arg)
|
|
|
NM_000135.4(FANCA):c.4357C>T (p.His1453Tyr)
|
rs1338647532
|
|
NM_000135.4(FANCA):c.4358del (p.His1453fs)
|
rs2151709638
|
|
NM_000135.4(FANCA):c.4361T>C (p.Leu1454Pro)
|
rs2151709628
|
|
NM_000135.4(FANCA):c.4362C>T (p.Leu1454=)
|
rs2151709620
|
|