NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
|
rs80357498
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
|
rs80357914
|
0.00003
|
NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter)
|
rs80357472
|
0.00001
|
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg)
|
rs80356880
|
0.00001
|
NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter)
|
rs397508838
|
0.00001
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.1623dup (p.Asn542fs)
|
rs397508891
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter)
|
rs80357118
|
0.00001
|
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)
|
rs80357064
|
0.00001
|
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter)
|
rs80357355
|
0.00001
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
NM_007294.4(BRCA1):c.213-11T>G
|
rs80358061
|
0.00001
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
NM_007294.4(BRCA1):c.302-2del
|
rs273899695
|
0.00001
|
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)
|
rs80357134
|
0.00001
|
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)
|
rs80356989
|
0.00001
|
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs)
|
rs80357981
|
0.00001
|
NM_007294.4(BRCA1):c.4357+1G>A
|
rs80358027
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)
|
rs80357437
|
0.00001
|
NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)
|
rs80357366
|
0.00001
|
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
|
rs80356988
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile)
|
rs80357043
|
0.00001
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter)
|
rs80357418
|
0.00001
|
NM_007294.4(BRCA1):c.514del (p.Gln172fs)
|
rs80357872
|
0.00001
|
NM_007294.4(BRCA1):c.5278-1G>C
|
rs80358099
|
0.00001
|
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)
|
rs41293463
|
0.00001
|
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro)
|
rs80357474
|
0.00001
|
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)
|
rs80357069
|
0.00001
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5467+1G>A
|
rs80358145
|
0.00001
|
NM_007294.4(BRCA1):c.5467+2T>C
|
rs80358009
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)
|
rs80357629
|
0.00001
|
NM_007294.4(BRCA1):c.791_794del (p.Ser264fs)
|
rs80357707
|
0.00001
|
NM_007294.3(BRCA1):c.238_239delAGins22 (p.?)
|
|
|
NM_007294.3:c.134+2460_4357+2437dup
|
|
|
NM_007294.3:c.134+2513_4357+2438dup
|
|
|
NM_007294.3:c.5074+925_5277+2098dup
|
|
|
NM_007294.4(BRCA1):c.1002del (p.Ser335fs)
|
rs876658404
|
|
NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs)
|
rs1555592671
|
|
NM_007294.4(BRCA1):c.1009dup (p.Glu337fs)
|
|
|
NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter)
|
rs397508826
|
|
NM_007294.4(BRCA1):c.1016del (p.Lys339fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer)
|
rs80357774
|
|
NM_007294.4(BRCA1):c.101del (p.Pro34fs)
|
rs80357750
|
|
NM_007294.4(BRCA1):c.1041del (p.Cys348fs)
|
rs1597878453
|
|
NM_007294.4(BRCA1):c.1045G>T (p.Glu349Ter)
|
rs80357338
|
|
NM_007294.4(BRCA1):c.1049_1050del (p.Arg350fs)
|
rs886039925
|
|
NM_007294.4(BRCA1):c.1054del (p.Glu352fs)
|
rs886039926
|
|
NM_007294.4(BRCA1):c.105_134+1007delinsTCCTTGAT
|
|
|
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)
|
rs80357215
|
|
NM_007294.4(BRCA1):c.1066delinsGATGGAATAAGG (p.Gln356fs)
|
|
|
NM_007294.4(BRCA1):c.1067del (p.Gln356fs)
|
rs80357796
|
|
NM_007294.4(BRCA1):c.1072del (p.Leu358fs)
|
rs80357836
|
|
NM_007294.4(BRCA1):c.1082C>G (p.Ser361Ter)
|
rs397508833
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1086_1087del (p.Asn363fs)
|
rs80357897
|
|
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)
|
rs80359875
|
|
NM_007294.4(BRCA1):c.1088del (p.Asn363fs)
|
rs80357954
|
|
NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter)
|
rs398122627
|
|
NM_007294.4(BRCA1):c.1099del (p.Thr367fs)
|
rs2154476235
|
|
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter)
|
rs80357139
|
|
NM_007294.4(BRCA1):c.1105_1106insTC (p.Asp369fs)
|
rs876659396
|
|
NM_007294.4(BRCA1):c.1105dup (p.Asp369fs)
|
rs1555592498
|
|
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
|
|
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)
|
rs80357468
|
|
NM_007294.4(BRCA1):c.1120del (p.Thr374fs)
|
|
|
NM_007294.4(BRCA1):c.1121del (p.Thr374fs)
|
rs80357612
|
|
NM_007294.4(BRCA1):c.1127del (p.Asn376fs)
|
rs80357821
|
|
NM_007294.4(BRCA1):c.1129del (p.Ser377fs)
|
rs2053988613
|
|
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)
|
rs80357949
|
|
NM_007294.4(BRCA1):c.1133del (p.Ser378fs)
|
rs1597877892
|
|
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)
|
rs876659327
|
|
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)
|
rs80357385
|
|
NM_007294.4(BRCA1):c.1148_1149del (p.Asn383fs)
|
rs431825384
|
|
NM_007294.4(BRCA1):c.1148del (p.Asn383fs)
|
rs878854930
|
|
NM_007294.4(BRCA1):c.1154G>A (p.Trp385Ter)
|
rs1555592354
|
|
NM_007294.4(BRCA1):c.1155G>A (p.Trp385Ter)
|
rs876660558
|
|
NM_007294.4(BRCA1):c.1155del (p.Trp385fs)
|
rs2154473109
|
|
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.115_134+1567del
|
|
|
NM_007294.4(BRCA1):c.1162A>T (p.Arg388Ter)
|
rs111312760
|
|
NM_007294.4(BRCA1):c.1165del (p.Ser389fs)
|
rs80357985
|
|
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)
|
rs80357498
|
|
NM_007294.4(BRCA1):c.1171G>T (p.Glu391Ter)
|
rs562553169
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1179_1180dup (p.Gly394fs)
|
rs1555592304
|
|
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
|
rs886040898
|
|
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer)
|
rs80357972
|
|
NM_007294.4(BRCA1):c.1188del (p.Asp396fs)
|
rs397508845
|
|
NM_007294.4(BRCA1):c.1193C>G (p.Ser398Ter)
|
rs80357068
|
|
NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter)
|
rs273897655
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1205dup (p.Ser403fs)
|
rs1555592219
|
|
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)
|
rs80357481
|
|
NM_007294.4(BRCA1):c.1217del (p.Asn406fs)
|
rs397508846
|
|
NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer)
|
rs879255320
|
|
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.1232_1233del (p.Asp411fs)
|
rs397508848
|
|
NM_007294.4(BRCA1):c.1232_1235delinsCA (p.Asp411fs)
|
rs876659253
|
|
NM_007294.4(BRCA1):c.1240dup (p.Asp414fs)
|
rs786204260
|
|
NM_007294.4(BRCA1):c.124del (p.Ile42fs)
|
rs80357943
|
|
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter)
|
rs80357083
|
|
NM_007294.4(BRCA1):c.1252del (p.Glu418fs)
|
rs876660623
|
|
NM_007294.4(BRCA1):c.1252dup (p.Glu418fs)
|
rs886039936
|
|
NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer)
|
rs80357535
|
|
NM_007294.4(BRCA1):c.1256dup (p.Asp420fs)
|
rs786203103
|
|
NM_007294.4(BRCA1):c.1259del (p.Asp420fs)
|
|
|
NM_007294.4(BRCA1):c.1264dup (p.Tyr422fs)
|
|
|
NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter)
|
rs80357417
|
|
NM_007294.4(BRCA1):c.1271del (p.Gly424fs)
|
|
|
NM_007294.4(BRCA1):c.1276del (p.Ser426fs)
|
rs80357766
|
|
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)
|
rs80357576
|
|
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)
|
rs80357346
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs)
|
rs397508852
|
|
NM_007294.4(BRCA1):c.1297del (p.Ala433fs)
|
rs80357794
|
|
NM_007294.4(BRCA1):c.1303_1309del (p.Asp435fs)
|
|
|
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.1312G>T (p.Glu438Ter)
|
|
|
NM_007294.4(BRCA1):c.1312_1322del (p.Glu438fs)
|
|
|
NM_007294.4(BRCA1):c.1315dup (p.Ala439fs)
|
rs1555591956
|
|
NM_007294.4(BRCA1):c.1319T>G (p.Leu440Ter)
|
rs273897656
|
|
NM_007294.4(BRCA1):c.1319del (p.Ala439_Leu440insTer)
|
rs80357683
|
|
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)
|
rs1597911705
|
|
NM_007294.4(BRCA1):c.1323_1324del (p.Ile441fs)
|
rs80357570
|
|
NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs)
|
rs80357543
|
|
NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter)
|
rs397508854
|
|
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter)
|
rs398122630
|
|
NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs)
|
rs397508857
|
|
NM_007294.4(BRCA1):c.134+1G>A
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+2T>A
|
rs80358131
|
|
NM_007294.4(BRCA1):c.134+2T>C
|
rs80358131
|
|
NM_007294.4(BRCA1):c.134+3A>C
|
rs80358064
|
|
NM_007294.4(BRCA1):c.134+3A>T
|
rs80358064
|
|
NM_007294.4(BRCA1):c.134+5G>A
|
rs80358038
|
|
NM_007294.4(BRCA1):c.134+5G>C
|
rs80358038
|
|
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs)
|
rs80357597
|
|
NM_007294.4(BRCA1):c.135-1G>C
|
rs80358158
|
|
NM_007294.4(BRCA1):c.135-2A>G
|
rs80358065
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1361del (p.Ser454fs)
|
rs398122632
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
NM_007294.4(BRCA1):c.1369G>T (p.Glu457Ter)
|
rs2154451153
|
|
NM_007294.4(BRCA1):c.1374del (p.Asp458fs)
|
rs397508862
|
|
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)
|
rs80357714
|
|
NM_007294.4(BRCA1):c.1386del (p.Thr464fs)
|
rs80357722
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs)
|
rs273897659
|
|
NM_007294.4(BRCA1):c.1395T>G (p.Tyr465Ter)
|
rs2154448397
|
|
NM_007294.4(BRCA1):c.1395del (p.Arg466fs)
|
|
|
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)
|
rs80357734
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter)
|
rs80357490
|
|
NM_007294.4(BRCA1):c.1428_1437del (p.His476fs)
|
rs886039953
|
|
NM_007294.4(BRCA1):c.1432_1441dup (p.Leu481delinsHisTer)
|
|
|
NM_007294.4(BRCA1):c.1434del (p.Glu479fs)
|
rs431825386
|
|
NM_007294.4(BRCA1):c.1439dup (p.Asn480fs)
|
rs80357505
|
|
NM_007294.4(BRCA1):c.143del (p.Met48fs)
|
rs80357637
|
|
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer)
|
rs80357801
|
|
NM_007294.4(BRCA1):c.1444_1447dup (p.Ile483fs)
|
rs80357801
|
|
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter)
|
rs80357304
|
|
NM_007294.4(BRCA1):c.1457_1461del (p.Phe486fs)
|
|
|
NM_007294.4(BRCA1):c.1462dup (p.Thr488fs)
|
rs80357599
|
|
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)
|
rs62625303
|
|
NM_007294.4(BRCA1):c.1475_1476del (p.Ile492fs)
|
|
|
NM_007294.4(BRCA1):c.1477del (p.Ile493fs)
|
rs786203982
|
|
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)
|
rs80357010
|
|
NM_007294.4(BRCA1):c.1483G>T (p.Glu495Ter)
|
rs2053932763
|
|
NM_007294.4(BRCA1):c.1488del (p.Leu498fs)
|
rs587782251
|
|
NM_007294.4(BRCA1):c.1504_1507del (p.Leu502fs)
|
rs886039955
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)
|
rs876659139
|
|
NM_007294.4(BRCA1):c.1508del (p.Lys503fs)
|
rs80357506
|
|
NM_007294.4(BRCA1):c.1510del (p.Arg504fs)
|
rs80357908
|
|
NM_007294.4(BRCA1):c.1511dup (p.Arg504_Lys505insTer)
|
rs80357817
|
|
NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter)
|
rs398122636
|
|
NM_007294.4(BRCA1):c.1513A>T (p.Lys505Ter)
|
rs397508877
|
|
NM_007294.4(BRCA1):c.1518del (p.Arg507fs)
|
rs80357947
|
|
NM_007294.4(BRCA1):c.1523del (p.Pro508fs)
|
rs80357782
|
|
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter)
|
rs80357427
|
|
NM_007294.4(BRCA1):c.1530del (p.Gly511fs)
|
rs80357735
|
|
NM_007294.4(BRCA1):c.1531_1555del (p.Gly511fs)
|
|
|
NM_007294.4(BRCA1):c.1532del (p.Gly511fs)
|
|
|
NM_007294.4(BRCA1):c.1534del (p.Leu512fs)
|
|
|
NM_007294.4(BRCA1):c.1542_1550delinsCG (p.Glu515fs)
|
rs876659591
|
|
NM_007294.4(BRCA1):c.1551dup (p.Ile518fs)
|
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1568del (p.Leu523fs)
|
rs1555591543
|
|
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter)
|
rs80356984
|
|
NM_007294.4(BRCA1):c.1576_1580delinsAAG (p.Gln526fs)
|
|
|
NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs)
|
rs431825387
|
|
NM_007294.4(BRCA1):c.1586del (p.Pro529fs)
|
|
|
NM_007294.4(BRCA1):c.1598del (p.Asn533fs)
|
|
|
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter)
|
rs142074233
|
|
NM_007294.4(BRCA1):c.1601_1602del (p.Gln534fs)
|
rs878854933
|
|
NM_007294.4(BRCA1):c.1604del (p.Gly535fs)
|
rs2154434302
|
|
NM_007294.4(BRCA1):c.1606del (p.Thr536fs)
|
|
|
NM_007294.4(BRCA1):c.160C>T (p.Gln54Ter)
|
rs80356864
|
|
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)
|
rs80356893
|
|
NM_007294.4(BRCA1):c.1612_1616del (p.Gln538fs)
|
rs587776480
|
|
NM_007294.4(BRCA1):c.1618del (p.Glu540fs)
|
rs1555591470
|
|
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)
|
rs80356904
|
|
NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter)
|
rs80356952
|
|
NM_007294.4(BRCA1):c.1636_1654del (p.Met546fs)
|
rs80359881
|
|
NM_007294.4(BRCA1):c.1644_1689dup (p.Asn564delinsTyrTer)
|
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1674dup (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1676del (p.Gly559fs)
|
rs1555591383
|
|
NM_007294.4(BRCA1):c.1691del (p.Asn564fs)
|
rs2053899411
|
|
NM_007294.4(BRCA1):c.1695dup (p.Lys566fs)
|
rs273897664
|
|
NM_007294.4(BRCA1):c.1700_1701dup (p.Pro568fs)
|
|
|
NM_007294.4(BRCA1):c.1709del (p.Pro570fs)
|
rs2154428779
|
|
NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs)
|
rs80357640
|
|
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)
|
rs730881473
|
|
NM_007294.4(BRCA1):c.1716del (p.Glu572fs)
|
rs397508900
|
|
NM_007294.4(BRCA1):c.1723G>T (p.Glu575Ter)
|
rs397508902
|
|
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter)
|
rs397508903
|
|
NM_007294.4(BRCA1):c.1729_1730del (p.Glu577fs)
|
rs80357834
|
|
NM_007294.4(BRCA1):c.1745del (p.Thr582fs)
|
rs1597874447
|
|
NM_007294.4(BRCA1):c.1757del (p.Pro586fs)
|
rs80357723
|
|
NM_007294.4(BRCA1):c.1758_1760delinsAA (p.Ile587fs)
|
|
|
NM_007294.4(BRCA1):c.1759_1762del (p.Ile587fs)
|
rs879255479
|
|
NM_007294.4(BRCA1):c.1759del (p.Pro586_Ile587insTer)
|
rs398122642
|
|
NM_007294.4(BRCA1):c.1768_1770delinsC (p.Ser590fs)
|
rs876659196
|
|
NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter)
|
rs55650082
|
|
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)
|
rs80357471
|
|
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs)
|
rs397508907
|
|
NM_007294.4(BRCA1):c.1791del (p.Glu597fs)
|
|
|
NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter)
|
rs80357118
|
|
NM_007294.4(BRCA1):c.1795_1798del (p.Asn599fs)
|
rs886039968
|
|
NM_007294.4(BRCA1):c.1808C>G (p.Ser603Ter)
|
rs397508909
|
|
NM_007294.4(BRCA1):c.1812del (p.Ala605fs)
|
rs80357927
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.1823del (p.Lys608fs)
|
rs397508911
|
|
NM_007294.4(BRCA1):c.1823dup (p.Asn609fs)
|
rs397508911
|
|
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)
|
rs80357093
|
|
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs)
|
rs397508912
|
|
NM_007294.4(BRCA1):c.1831del (p.Arg610_Leu611insTer)
|
rs397508913
|
|
NM_007294.4(BRCA1):c.1836dup (p.Arg613fs)
|
rs876660523
|
|
NM_007294.4(BRCA1):c.1860del (p.His621fs)
|
rs730881459
|
|
NM_007294.4(BRCA1):c.1869_1902del (p.Glu624fs)
|
|
|
NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter)
|
rs80356950
|
|
NM_007294.4(BRCA1):c.1871_1874delinsTTC (p.Glu624fs)
|
|
|
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)
|
rs80357516
|
|
NM_007294.4(BRCA1):c.1875del (p.Leu625_Val626insTer)
|
rs398122646
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.1892dup (p.Ser632fs)
|
rs80357932
|
|
NM_007294.4(BRCA1):c.1898del (p.Pro633fs)
|
rs80357851
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.1912del (p.Glu638fs)
|
rs80357933
|
|
NM_007294.4(BRCA1):c.1915_1993del (p.Leu639fs)
|
|
|
NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter)
|
rs80357267
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)
|
rs397507194
|
|
NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs)
|
rs886039982
|
|
NM_007294.4(BRCA1):c.192T>A (p.Cys64Ter)
|
rs587781632
|
|
NM_007294.4(BRCA1):c.1934del (p.Ser645fs)
|
|
|
NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs)
|
rs397508920
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs)
|
rs80357753
|
|
NM_007294.4(BRCA1):c.1958_1961del (p.Lys653fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1960_1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1962del (p.Lys654fs)
|
|
|
NM_007294.4(BRCA1):c.1964del (p.Tyr655fs)
|
rs786203594
|
|
NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter)
|
rs886039987
|
|
NM_007294.4(BRCA1):c.1965C>G (p.Tyr655Ter)
|
rs886039987
|
|
NM_007294.4(BRCA1):c.196_204delinsGACATAAGGTATAT (p.Asn66fs)
|
|
|
NM_007294.4(BRCA1):c.1974del (p.Met658fs)
|
|
|
NM_007294.4(BRCA1):c.1978del (p.Val660fs)
|
rs886039988
|
|
NM_007294.4(BRCA1):c.1987del (p.Ser663fs)
|
|
|
NM_007294.4(BRCA1):c.1998_2022del (p.Met669fs)
|
|
|
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter)
|
rs80356889
|
|
NM_007294.4(BRCA1):c.19_47del (p.Arg7fs)
|
rs80359871
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)
|
rs80357521
|
|
NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter)
|
rs397508929
|
|
NM_007294.4(BRCA1):c.2016dup (p.Glu673fs)
|
rs2154403814
|
|
NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter)
|
rs80357391
|
|
NM_007294.4(BRCA1):c.2019del (p.Glu673fs)
|
rs80357626
|
|
NM_007294.4(BRCA1):c.2029G>T (p.Gly677Ter)
|
rs1597872603
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs)
|
rs397508932
|
|
NM_007294.4(BRCA1):c.203_204del (p.Ile68fs)
|
rs398122651
|
|
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)
|
rs863224510
|
|
NM_007294.4(BRCA1):c.2046del (p.Asn682fs)
|
|
|
NM_007294.4(BRCA1):c.2055dup (p.Glu686Ter)
|
|
|
NM_007294.4(BRCA1):c.2056G>T (p.Glu686Ter)
|
rs587782709
|
|
NM_007294.4(BRCA1):c.2056dup (p.Glu686fs)
|
|
|
NM_007294.4(BRCA1):c.2057_2060del (p.Glu686fs)
|
rs1597872456
|
|
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)
|
rs273898674
|
|
NM_007294.4(BRCA1):c.2061_2064del (p.Thr688fs)
|
rs1597872420
|
|
NM_007294.4(BRCA1):c.2066_2069del (p.Ser689fs)
|
rs886037994
|
|
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2074del (p.His692fs)
|
rs80357554
|
|
NM_007294.4(BRCA1):c.2077_2078insTA (p.Asp693fs)
|
rs80357595
|
|
NM_007294.4(BRCA1):c.2077delinsATA (p.Asp693fs)
|
rs886039991
|
|
NM_007294.4(BRCA1):c.2090dup (p.Glu699fs)
|
rs886039996
|
|
NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter)
|
rs876660282
|
|
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
|
rs80357298
|
|
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)
|
rs80357880
|
|
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)
|
rs80357814
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.212+1G>A
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
rs80358042
|
|
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs)
|
rs80357871
|
|
NM_007294.4(BRCA1):c.2125_2126insAG (p.Phe709Ter)
|
|
|
NM_007294.4(BRCA1):c.2125_2126insAGT (p.Phe709Ter)
|
rs1555590428
|
|
NM_007294.4(BRCA1):c.2126_2127del (p.Phe709fs)
|
rs397508939
|
|
NM_007294.4(BRCA1):c.2127del (p.Phe709fs)
|
rs397508939
|
|
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.213-1G>A
|
rs80358146
|
|
NM_007294.4(BRCA1):c.213-5T>A
|
rs886038196
|
|
NM_007294.4(BRCA1):c.2130delinsAA (p.Cys712fs)
|
rs1060502332
|
|
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)
|
rs398122653
|
|
NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter)
|
rs80357233
|
|
NM_007294.4(BRCA1):c.2143_2155delinsTCTTT (p.Thr715fs)
|
rs1567796807
|
|
NM_007294.4(BRCA1):c.2157_2160del (p.Lys719fs)
|
rs886040005
|
|
NM_007294.4(BRCA1):c.2157dup (p.Glu720fs)
|
rs80357715
|
|
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)
|
rs80356875
|
|
NM_007294.4(BRCA1):c.2158_2159del (p.Glu720fs)
|
rs1567796780
|
|
NM_007294.4(BRCA1):c.2164del (p.Val722fs)
|
rs1555590315
|
|
NM_007294.4(BRCA1):c.2174_2256dup (p.Ser753delinsAlaPheGlnGluLysLysLysLysArgAsnTer)
|
|
|
NM_007294.4(BRCA1):c.2176del (p.Leu726fs)
|
rs80357668
|
|
NM_007294.4(BRCA1):c.2187del (p.Glu730fs)
|
|
|
NM_007294.4(BRCA1):c.2192_2196del (p.Lys731fs)
|
rs397508946
|
|
NM_007294.4(BRCA1):c.2193_2196del (p.Glu732fs)
|
rs397508947
|
|
NM_007294.4(BRCA1):c.2193del (p.Glu732fs)
|
rs886040009
|
|
NM_007294.4(BRCA1):c.2193dup (p.Glu732fs)
|
|
|
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter)
|
rs80357426
|
|
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter)
|
rs397508949
|
|
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)
|
rs80357507
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2209del (p.Thr737fs)
|
rs1060502333
|
|
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter)
|
rs80357234
|
|
NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs)
|
rs80357654
|
|
NM_007294.4(BRCA1):c.2212_2215del (p.Val738fs)
|
rs397508951
|
|
NM_007294.4(BRCA1):c.2213_2214dup (p.Lys739fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2214del (p.Val740fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter)
|
rs56329598
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2217dup (p.Val740fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2241del (p.Asp749fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2244del (p.Asp749fs)
|
|
|
NM_007294.4(BRCA1):c.224_227del (p.Glu75fs)
|
rs80357697
|
|
NM_007294.4(BRCA1):c.2260G>T (p.Gly754Ter)
|
rs2053792392
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
NM_007294.4(BRCA1):c.2273dup (p.Leu758fs)
|
rs80357681
|
|
NM_007294.4(BRCA1):c.2275C>T (p.Gln759Ter)
|
rs80356999
|
|
NM_007294.4(BRCA1):c.2281G>T (p.Glu761Ter)
|
|
|
NM_007294.4(BRCA1):c.2289del (p.Ser763_Val764insTer)
|
rs876658791
|
|
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter)
|
rs80357449
|
|
NM_007294.4(BRCA1):c.2295del (p.Ser766fs)
|
rs1567796243
|
|
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer)
|
rs80357780
|
|
NM_007294.4(BRCA1):c.2297_2298del (p.Ser766fs)
|
rs1597870909
|
|
NM_007294.4(BRCA1):c.2299del (p.Ser767fs)
|
rs80357786
|
|
NM_007294.4(BRCA1):c.2302del (p.Ser768fs)
|
rs1555589953
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2309C>G (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2314del (p.Val772fs)
|
rs80357957
|
|
NM_007294.4(BRCA1):c.2329del (p.Tyr777fs)
|
rs80357725
|
|
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)
|
rs431825390
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2340_2394dup (p.Asn799delinsGlyLysTyrLeuValThrGlySerTer)
|
rs1597870272
|
|
NM_007294.4(BRCA1):c.2341G>T (p.Glu781Ter)
|
|
|
NM_007294.4(BRCA1):c.2342_2343insCT (p.Glu781fs)
|
|
|
NM_007294.4(BRCA1):c.2344dup (p.Ser782fs)
|
rs2053777729
|
|
NM_007294.4(BRCA1):c.2345del (p.Ser782fs)
|
rs1597870583
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2347_2348del (p.Ile783fs)
|
rs1597870555
|
|
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)
|
rs55914168
|
|
NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs)
|
rs80357820
|
|
NM_007294.4(BRCA1):c.2359del (p.Glu787fs)
|
rs80357739
|
|
NM_007294.4(BRCA1):c.2359dup (p.Glu787fs)
|
rs80357739
|
|
NM_007294.4(BRCA1):c.2361del (p.Val788fs)
|
rs886040028
|
|
NM_007294.4(BRCA1):c.2362del (p.Val788fs)
|
rs876659136
|
|
NM_007294.4(BRCA1):c.2386_2387delinsT (p.Lys795_Thr796insTer)
|
rs876660305
|
|
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)
|
rs62625306
|
|
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs)
|
rs80357695
|
|
NM_007294.4(BRCA1):c.2392_2393delinsA (p.Pro798fs)
|
rs80357850
|
|
NM_007294.4(BRCA1):c.2393del (p.Pro798fs)
|
rs80357850
|
|
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs)
|
rs786202684
|
|
NM_007294.4(BRCA1):c.2402del (p.Cys801fs)
|
rs876659447
|
|
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
|
rs80357706
|
|
NM_007294.4(BRCA1):c.2405dup (p.Ser803fs)
|
|
|
NM_007294.4(BRCA1):c.2406_2409del (p.Gln804fs)
|
rs80357674
|
|
NM_007294.4(BRCA1):c.2407_2408del (p.Gln804fs)
|
rs786202919
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.2415T>A (p.Cys805Ter)
|
rs1597870104
|
|
NM_007294.4(BRCA1):c.2415_2416del (p.Ala806fs)
|
|
|
NM_007294.4(BRCA1):c.2418del (p.Ala807fs)
|
rs879255281
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2424del (p.Phe808fs)
|
rs397507200
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2433dup (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter)
|
rs80357186
|
|
NM_007294.4(BRCA1):c.2443del (p.Ile815fs)
|
rs80357598
|
|
NM_007294.4(BRCA1):c.2450dup (p.Cys818fs)
|
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2474dup (p.Asp825fs)
|
rs80357830
|
|
NM_007294.4(BRCA1):c.2477_2478del (p.Thr826fs)
|
rs80357800
|
|
NM_007294.4(BRCA1):c.2477_2478insT (p.Glu827fs)
|
|
|
NM_007294.4(BRCA1):c.2481del (p.Gly828fs)
|
rs886040042
|
|
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2488A>T (p.Lys830Ter)
|
rs1555589569
|
|
NM_007294.4(BRCA1):c.2488_2504dup (p.His835fs)
|
rs483353078
|
|
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs)
|
rs886040043
|
|
NM_007294.4(BRCA1):c.2504dup (p.His835fs)
|
rs1555589513
|
|
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter)
|
rs398122661
|
|
NM_007294.4(BRCA1):c.250_257dup (p.Leu87fs)
|
|
|
NM_007294.4(BRCA1):c.2515del (p.His839fs)
|
rs80357607
|
|
NM_007294.4(BRCA1):c.2517_2518del (p.His839fs)
|
rs397508974
|
|
NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter)
|
rs876658552
|
|
NM_007294.4(BRCA1):c.2530del (p.Ser844fs)
|
|
|
NM_007294.4(BRCA1):c.2539del (p.Met847fs)
|
|
|
NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter)
|
rs80356951
|
|
NM_007294.4(BRCA1):c.2548del (p.Ser850fs)
|
rs1555589434
|
|
NM_007294.4(BRCA1):c.2550_2551del (p.Ser850fs)
|
rs1597869317
|
|
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter)
|
rs398122662
|
|
NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs)
|
rs80357968
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2567del (p.Tyr856fs)
|
rs1597869157
|
|
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter)
|
rs80356832
|
|
NM_007294.4(BRCA1):c.2590del (p.Ser864fs)
|
|
|
NM_007294.4(BRCA1):c.2590dup (p.Ser864fs)
|
rs1597868983
|
|
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter)
|
rs80357003
|
|
NM_007294.4(BRCA1):c.2593A>T (p.Lys865Ter)
|
rs587782628
|
|
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)
|
rs886038001
|
|
NM_007294.4(BRCA1):c.2599_2626del (p.Gln867fs)
|
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2606_2654del (p.Phe869fs)
|
|
|
NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs)
|
rs80357948
|
|
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs)
|
rs397508986
|
|
NM_007294.4(BRCA1):c.2621del (p.Asn874fs)
|
rs587781423
|
|
NM_007294.4(BRCA1):c.2630del (p.Asn877fs)
|
rs886038002
|
|
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)
|
rs80357251
|
|
NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter)
|
rs397508988
|
|
NM_007294.4(BRCA1):c.2643del (p.Glu881fs)
|
rs397508989
|
|
NM_007294.4(BRCA1):c.2649_2650del (p.Thr884fs)
|
rs886040058
|
|
NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs)
|
rs886038003
|
|
NM_007294.4(BRCA1):c.2654del (p.Phe885fs)
|
rs398122663
|
|
NM_007294.4(BRCA1):c.2654dup (p.Ser886fs)
|
rs398122663
|
|
NM_007294.4(BRCA1):c.2657_2658del (p.Ser886fs)
|
rs397508990
|
|
NM_007294.4(BRCA1):c.2666dup (p.Gly890fs)
|
rs876660425
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
NM_007294.4(BRCA1):c.2680A>T (p.Lys894Ter)
|
rs876659457
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2683C>T (p.Gln895Ter)
|
rs397508997
|
|
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2686dup (p.Ser896fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2694del (p.Val899fs)
|
rs80357549
|
|
NM_007294.4(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer)
|
rs80357899
|
|
NM_007294.4(BRCA1):c.2704del (p.Glu902fs)
|
rs886040064
|
|
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer)
|
rs886040065
|
|
NM_007294.4(BRCA1):c.2717del (p.Lys906fs)
|
rs876659072
|
|
NM_007294.4(BRCA1):c.2719G>T (p.Glu907Ter)
|
rs876658593
|
|
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs)
|
rs80357731
|
|
NM_007294.4(BRCA1):c.2719del (p.Glu907fs)
|
rs879255481
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2726del (p.Asn909fs)
|
rs80357614
|
|
NM_007294.4(BRCA1):c.2726dup (p.Asn909fs)
|
rs80357614
|
|
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs)
|
rs80357605
|
|
NM_007294.4(BRCA1):c.2728del (p.Gln910fs)
|
rs397509005
|
|
NM_007294.4(BRCA1):c.273_274del (p.Ala92fs)
|
rs587776485
|
|
NM_007294.4(BRCA1):c.273del (p.Cys91fs)
|
|
|
NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter)
|
rs80357419
|
|
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)
|
rs80357540
|
|
NM_007294.4(BRCA1):c.2745_2751dup (p.Lys918Ter)
|
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
NM_007294.4(BRCA1):c.2753_2755delinsCA (p.Lys918fs)
|
rs886040069
|
|
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)
|
rs80357377
|
|
NM_007294.4(BRCA1):c.2762del (p.Gln921fs)
|
rs80357703
|
|
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs)
|
rs80357822
|
|
NM_007294.4(BRCA1):c.2766del (p.Val923fs)
|
rs80357812
|
|
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs)
|
rs80357661
|
|
NM_007294.4(BRCA1):c.2770_2792del (p.Asn924fs)
|
|
|
NM_007294.4(BRCA1):c.2771_2772insC (p.Ile925fs)
|
|
|
NM_007294.4(BRCA1):c.2796del (p.Gly933fs)
|
rs1555588942
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter)
|
rs1555588915
|
|
NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter)
|
rs886037972
|
|
NM_007294.4(BRCA1):c.2814del (p.Val939fs)
|
rs886040074
|
|
NM_007294.4(BRCA1):c.2820_2830delinsAAGATAAGCCAGTTTGATAA (p.Asp940_Cys944delinsGluArgTer)
|
rs1555588883
|
|
NM_007294.4(BRCA1):c.2831_2835del (p.Cys944fs)
|
|
|
NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter)
|
rs80357458
|
|
NM_007294.4(BRCA1):c.2833del (p.Ser945fs)
|
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs)
|
rs80357519
|
|
NM_007294.4(BRCA1):c.2837_2838delinsA (p.Ile946fs)
|
|
|
NM_007294.4(BRCA1):c.2839A>T (p.Lys947Ter)
|
rs1597867344
|
|
NM_007294.4(BRCA1):c.283_286del (p.Leu95fs)
|
rs1567811070
|
|
NM_007294.4(BRCA1):c.2845_2849del (p.Gly948_Gly949insTer)
|
|
|
NM_007294.4(BRCA1):c.2857del (p.Cys953fs)
|
rs397509019
|
|
NM_007294.4(BRCA1):c.2861del (p.Leu954fs)
|
rs1597867214
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)
|
rs80357295
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter)
|
rs80356973
|
|
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.287A>T (p.Asp96Val)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.2887del (p.Thr963fs)
|
rs80357559
|
|
NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs)
|
rs80357890
|
|
NM_007294.4(BRCA1):c.288_292delinsAACCTGT (p.Asp96fs)
|
rs483353091
|
|
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs)
|
rs398122670
|
|
NM_007294.4(BRCA1):c.2907_2938delinsCATGGAC (p.Lys970fs)
|
|
|
NM_007294.4(BRCA1):c.2907del (p.Asn969fs)
|
rs1597866816
|
|
NM_007294.4(BRCA1):c.290_291del (p.Thr97fs)
|
rs80357738
|
|
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)
|
rs878854940
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter)
|
rs80356872
|
|
NM_007294.4(BRCA1):c.2921del (p.Leu974fs)
|
rs80357611
|
|
NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter)
|
rs80357497
|
|
NM_007294.4(BRCA1):c.2930del (p.Pro977fs)
|
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2934del (p.Arg979fs)
|
rs80357741
|
|
NM_007294.4(BRCA1):c.2940del (p.Pro981fs)
|
rs80357876
|
|
NM_007294.4(BRCA1):c.2947del (p.Leu983fs)
|
rs876659108
|
|
NM_007294.4(BRCA1):c.2952del (p.Ile986fs)
|
rs80357627
|
|
NM_007294.4(BRCA1):c.2952dup (p.Pro985fs)
|
rs80357627
|
|
NM_007294.4(BRCA1):c.2955del (p.Ile986fs)
|
rs397509027
|
|
NM_007294.4(BRCA1):c.2960_2964del (p.Lys987fs)
|
rs1555588625
|
|
NM_007294.4(BRCA1):c.2960dup (p.Ser988fs)
|
rs886040088
|
|
NM_007294.4(BRCA1):c.2961del (p.Lys987fs)
|
|
|
NM_007294.4(BRCA1):c.2963C>A (p.Ser988Ter)
|
rs397507206
|
|
NM_007294.4(BRCA1):c.2963C>G (p.Ser988Ter)
|
|
|
NM_007294.4(BRCA1):c.2970del (p.Thr992fs)
|
rs886040089
|
|
NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs)
|
rs397509030
|
|
NM_007294.4(BRCA1):c.297_300del (p.Leu99fs)
|
|
|
NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer)
|
rs397507207
|
|
NM_007294.4(BRCA1):c.2982T>A (p.Cys994Ter)
|
|
|
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)
|
rs80357829
|
|
NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter)
|
rs273899692
|
|
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)
|
rs80357991
|
|
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)
|
rs80357111
|
|
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)
|
rs80357601
|
|
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)
|
rs80357617
|
|
NM_007294.4(BRCA1):c.3009dup (p.Glu1004Ter)
|
|
|
NM_007294.4(BRCA1):c.3013del (p.Glu1005fs)
|
rs80357937
|
|
NM_007294.4(BRCA1):c.3016del (p.His1006fs)
|
rs2154347100
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.302-3C>G
|
rs80358051
|
|
NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter)
|
rs80357168
|
|
NM_007294.4(BRCA1):c.3026C>A (p.Ser1009Ter)
|
rs273899696
|
|
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)
|
rs80357510
|
|
NM_007294.4(BRCA1):c.3033_3034del (p.Glu1013fs)
|
rs1567793163
|
|
NM_007294.4(BRCA1):c.3037_3038del (p.Glu1013fs)
|
rs397507208
|
|
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter)
|
rs80356936
|
|
NM_007294.4(BRCA1):c.3044dup (p.Asn1016fs)
|
rs80357746
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)
|
rs80357004
|
|
NM_007294.4(BRCA1):c.3062del (p.Ser1021fs)
|
rs1135401857
|
|
NM_007294.4(BRCA1):c.3064dup (p.Thr1022fs)
|
rs1135401858
|
|
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer)
|
rs786202906
|
|
NM_007294.4(BRCA1):c.3083del (p.Arg1028fs)
|
rs1484076591
|
|
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)
|
rs80357647
|
|
NM_007294.4(BRCA1):c.3091dup (p.Ile1031fs)
|
rs1555588399
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
NM_007294.4(BRCA1):c.3108del (p.Phe1036fs)
|
rs80357841
|
|
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter)
|
rs80357841
|
|
NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter)
|
rs80357161
|
|
NM_007294.4(BRCA1):c.3113_3115delinsGA (p.Glu1038fs)
|
rs1597865625
|
|
NM_007294.4(BRCA1):c.3136del (p.Glu1046fs)
|
|
|
NM_007294.4(BRCA1):c.3143del (p.Gly1048fs)
|
rs886040100
|
|
NM_007294.4(BRCA1):c.3157G>T (p.Glu1053Ter)
|
rs786203587
|
|
NM_007294.4(BRCA1):c.3166del (p.Ser1056fs)
|
|
|
NM_007294.4(BRCA1):c.3176_3177del (p.Asn1059fs)
|
rs2154338498
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer)
|
rs80357702
|
|
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)
|
rs80357511
|
|
NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter)
|
rs1555588220
|
|
NM_007294.4(BRCA1):c.3205C>T (p.Gln1069Ter)
|
rs2053627043
|
|
NM_007294.4(BRCA1):c.3205del (p.Gln1069fs)
|
rs886040103
|
|
NM_007294.4(BRCA1):c.3210del (p.Glu1071fs)
|
|
|
NM_007294.4(BRCA1):c.321del (p.Phe107fs)
|
rs80357544
|
|
NM_007294.4(BRCA1):c.323del (p.Ala108fs)
|
rs1597897136
|
|
NM_007294.4(BRCA1):c.329_330del (p.Lys110fs)
|
rs80357754
|
|
NM_007294.4(BRCA1):c.329del (p.Lys110fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.331G>T (p.Glu111Ter)
|
|
|
NM_007294.4(BRCA1):c.335_338del (p.Asn112fs)
|
rs587782666
|
|
NM_007294.4(BRCA1):c.346del (p.Glu116fs)
|
rs762635795
|
|
NM_007294.4(BRCA1):c.349dup (p.His117fs)
|
|
|
NM_007294.4(BRCA1):c.37_40del (p.Asn13fs)
|
rs80357530
|
|
NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer)
|
rs1064793054
|
|
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)
|
rs80356888
|
|
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)
|
rs80357207
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.406del (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.406dup (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.4099G>T (p.Glu1367Ter)
|
rs786202998
|
|
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)
|
rs80357861
|
|
NM_007294.4(BRCA1):c.4116_4117del (p.Cys1372_Glu1373delinsTer)
|
rs80357804
|
|
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)
|
rs398122682
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
NM_007294.4(BRCA1):c.411dup (p.Leu138fs)
|
rs886040205
|
|
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer)
|
rs80357787
|
|
NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter)
|
rs80357397
|
|
NM_007294.4(BRCA1):c.4128_4129del (p.Ser1377fs)
|
rs80357921
|
|
NM_007294.4(BRCA1):c.4136_4137del (p.Val1378_Ser1379insTer)
|
rs397509141
|
|
NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)
|
rs80357071
|
|
NM_007294.4(BRCA1):c.4158_4162del (p.Ser1387fs)
|
rs397509142
|
|
NM_007294.4(BRCA1):c.415C>T (p.Gln139Ter)
|
rs80357372
|
|
NM_007294.4(BRCA1):c.415_416del (p.Gln139fs)
|
|
|
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs)
|
rs80357565
|
|
NM_007294.4(BRCA1):c.4161_4162dup (p.Gln1388fs)
|
rs80357565
|
|
NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter)
|
rs876660601
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.416dup (p.Ser140fs)
|
rs786203432
|
|
NM_007294.4(BRCA1):c.4175del (p.Ile1391_Leu1392insTer)
|
rs886040211
|
|
NM_007294.4(BRCA1):c.4182_4183dup (p.Gln1395fs)
|
rs80357742
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185+1G>A
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4185+1G>T
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA
|
rs273900724
|
|
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4186-1676_4484+839dup
|
|
|
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter)
|
rs80357011
|
|
NM_007294.4(BRCA1):c.4191_4213dup (p.Ile1405delinsArgIleProCysAsnIleThrTer)
|
|
|
NM_007294.4(BRCA1):c.4195_4196del (p.Thr1399fs)
|
rs80357649
|
|
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)
|
rs397509151
|
|
NM_007294.4(BRCA1):c.4210del (p.Asn1403_Leu1404insTer)
|
rs80357765
|
|
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)
|
rs886040218
|
|
NM_007294.4(BRCA1):c.4250del (p.Val1417fs)
|
rs587782879
|
|
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs)
|
rs80357977
|
|
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter)
|
rs80357305
|
|
NM_007294.4(BRCA1):c.4266del (p.Ser1423fs)
|
rs397509158
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4282del (p.Ser1428fs)
|
rs1555584125
|
|
NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs)
|
rs80357790
|
|
NM_007294.4(BRCA1):c.4308_4309del (p.Ser1437fs)
|
rs2154149764
|
|
NM_007294.4(BRCA1):c.4321del (p.Asp1441fs)
|
rs80357748
|
|
NM_007294.4(BRCA1):c.4321dup (p.Asp1441fs)
|
rs80357748
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4335_4338dup (p.Gln1447fs)
|
rs397509164
|
|
NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter)
|
rs398122685
|
|
NM_007294.4(BRCA1):c.4357+1G>C
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4357+1G>T
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4357+1del
|
rs397509165
|
|
NM_007294.4(BRCA1):c.4357+2T>G
|
rs80358152
|
|
NM_007294.4(BRCA1):c.4358-1746_4986+736dup
|
|
|
NM_007294.4(BRCA1):c.4359del (p.Val1454fs)
|
|
|
NM_007294.4(BRCA1):c.4364del (p.Val1454_Leu1455insTer)
|
|
|
NM_007294.4(BRCA1):c.4365_4369del (p.Leu1455fs)
|
|
|
NM_007294.4(BRCA1):c.4370C>A (p.Ser1457Ter)
|
rs80357130
|
|
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter)
|
rs80356932
|
|
NM_007294.4(BRCA1):c.4379del (p.Ser1460fs)
|
rs786203149
|
|
NM_007294.4(BRCA1):c.4382_4388dup (p.Tyr1463Ter)
|
rs1567779838
|
|
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)
|
rs786204267
|
|
NM_007294.4(BRCA1):c.4387del (p.Tyr1463fs)
|
rs397507229
|
|
NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)
|
rs80356997
|
|
NM_007294.4(BRCA1):c.4389C>G (p.Tyr1463Ter)
|
rs80356997
|
|
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)
|
rs273900730
|
|
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs)
|
rs80357916
|
|
NM_007294.4(BRCA1):c.4392del (p.Pro1464_Ile1465insTer)
|
rs1064793577
|
|
NM_007294.4(BRCA1):c.4400_4418delinsTTT (p.Gln1467fs)
|
rs876659310
|
|
NM_007294.4(BRCA1):c.4401del (p.Asn1468fs)
|
rs587781611
|
|
NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter)
|
rs886040230
|
|
NM_007294.4(BRCA1):c.441+1729_547+704dup
|
|
|
NM_007294.4(BRCA1):c.4410dup (p.Gly1471fs)
|
rs1597839379
|
|
NM_007294.4(BRCA1):c.4416_4417delinsG (p.Ser1473fs)
|
rs397509174
|
|
NM_007294.4(BRCA1):c.442-22_442-13del
|
rs879254224
|
|
NM_007294.4(BRCA1):c.4432G>T (p.Glu1478Ter)
|
rs876659878
|
|
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)
|
rs138608489
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4485-1G>T
|
rs80358189
|
|
NM_007294.4(BRCA1):c.4485-2A>G
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4486del (p.Ser1496fs)
|
rs1555582082
|
|
NM_007294.4(BRCA1):c.4505del (p.Pro1502fs)
|
rs1555582069
|
|
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs)
|
rs273900736
|
|
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)
|
rs786202631
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4527C>G (p.Tyr1509Ter)
|
|
|
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs)
|
rs80357534
|
|
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)
|
rs1567778176
|
|
NM_007294.4(BRCA1):c.4552C>T (p.Gln1518Ter)
|
rs80356881
|
|
NM_007294.4(BRCA1):c.4562del (p.Asn1521fs)
|
|
|
NM_007294.4(BRCA1):c.456_457del (p.Ser153fs)
|
rs80357882
|
|
NM_007294.4(BRCA1):c.456del (p.Ser153fs)
|
rs876659830
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.4595_4596insCT (p.Asp1533fs)
|
rs80357699
|
|
NM_007294.4(BRCA1):c.45del (p.Asn16fs)
|
rs730881457
|
|
NM_007294.4(BRCA1):c.4608del (p.Glu1536fs)
|
|
|
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)
|
rs80357229
|
|
NM_007294.4(BRCA1):c.4611_4612insG (p.Gln1538fs)
|
rs80357915
|
|
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter)
|
rs80356992
|
|
NM_007294.4(BRCA1):c.4616dup (p.Glu1540fs)
|
rs1555581874
|
|
NM_007294.4(BRCA1):c.4618G>T (p.Glu1540Ter)
|
rs80357277
|
|
NM_007294.4(BRCA1):c.4622_4623del (p.Glu1541fs)
|
rs886040241
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)
|
rs80357180
|
|
NM_007294.4(BRCA1):c.4645_4646dup (p.Thr1550fs)
|
rs2153992821
|
|
NM_007294.4(BRCA1):c.4654_4673del (p.Tyr1552fs)
|
rs876659293
|
|
NM_007294.4(BRCA1):c.4654del (p.Tyr1552fs)
|
rs2153991069
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
NM_007294.4(BRCA1):c.4655dup (p.Tyr1552Ter)
|
rs587782143
|
|
NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter)
|
rs80357151
|
|
NM_007294.4(BRCA1):c.4658del (p.Leu1553fs)
|
rs2052588740
|
|
NM_007294.4(BRCA1):c.465del (p.Gln155fs)
|
rs1555594954
|
|
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter)
|
rs1555581812
|
|
NM_007294.4(BRCA1):c.4672del (p.Asp1557_Leu1558insTer)
|
rs1597835688
|
|
NM_007294.4(BRCA1):c.4674dup (p.Glu1559fs)
|
rs2052585246
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+1G>T
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+2T>C
|
rs879255293
|
|
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
|
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter)
|
rs80357349
|
|
NM_007294.4(BRCA1):c.4678_4679del (p.Gly1560fs)
|
rs1555581104
|
|
NM_007294.4(BRCA1):c.4699_4700dup (p.Ile1568fs)
|
rs1597831850
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4710_4740dup (p.Glu1581delinsLeuLeuTer)
|
rs2153881466
|
|
NM_007294.4(BRCA1):c.4715_4716del (p.Phe1571_Ser1572insTer)
|
rs2153889881
|
|
NM_007294.4(BRCA1):c.4724del (p.Pro1575fs)
|
rs397509191
|
|
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs)
|
rs80357907
|
|
NM_007294.4(BRCA1):c.474_493dup (p.Leu165delinsProLeuGluLeuTer)
|
|
|
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)
|
rs80357837
|
|
NM_007294.4(BRCA1):c.4760C>G (p.Ser1587Ter)
|
rs397509195
|
|
NM_007294.4(BRCA1):c.4775_4779delinsC (p.Asn1592fs)
|
rs397507237
|
|
NM_007294.4(BRCA1):c.4787C>A (p.Ser1596Ter)
|
rs80357429
|
|
NM_007294.4(BRCA1):c.4799dup (p.Leu1600fs)
|
rs587782392
|
|
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)
|
rs80357303
|
|
NM_007294.4(BRCA1):c.4803del (p.Val1602fs)
|
rs1555580912
|
|
NM_007294.4(BRCA1):c.4810C>T (p.Gln1604Ter)
|
rs80357352
|
|
NM_007294.4(BRCA1):c.4825G>T (p.Glu1609Ter)
|
|
|
NM_007294.4(BRCA1):c.4828dup (p.Ser1610fs)
|
rs1555580854
|
|
NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter)
|
rs786202064
|
|
NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs)
|
rs1555580840
|
|
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs)
|
rs730880287
|
|
NM_007294.4(BRCA1):c.485_486del (p.Val162fs)
|
rs80357708
|
|
NM_007294.4(BRCA1):c.485dup (p.Arg163fs)
|
rs587781427
|
|
NM_007294.4(BRCA1):c.4862_4871del (p.Asp1621fs)
|
rs1555580773
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4875T>A (p.Tyr1625Ter)
|
rs886040251
|
|
NM_007294.4(BRCA1):c.4875T>G (p.Tyr1625Ter)
|
|
|
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)
|
rs1173155015
|
|
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter)
|
rs200432771
|
|
NM_007294.4(BRCA1):c.4903del (p.Glu1635fs)
|
rs1555580697
|
|
NM_007294.4(BRCA1):c.4903dup (p.Glu1635fs)
|
rs1555580697
|
|
NM_007294.4(BRCA1):c.4910del (p.Pro1637fs)
|
rs397509204
|
|
NM_007294.4(BRCA1):c.4912G>T (p.Glu1638Ter)
|
rs2052380758
|
|
NM_007294.4(BRCA1):c.4929del (p.Glu1644fs)
|
|
|
NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter)
|
rs397509205
|
|
NM_007294.4(BRCA1):c.4936del (p.Val1646fs)
|
rs80357653
|
|
NM_007294.4(BRCA1):c.4942A>T (p.Lys1648Ter)
|
rs747694453
|
|
NM_007294.4(BRCA1):c.4945_4947delinsTTTT (p.Arg1649fs)
|
rs397509207
|
|
NM_007294.4(BRCA1):c.494dup (p.Arg166fs)
|
rs80357762
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter)
|
rs80357401
|
|
NM_007294.4(BRCA1):c.4986+2T>A
|
rs397509210
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+4A>C
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-3C>G
|
rs397509213
|
|
NM_007294.4(BRCA1):c.4992dup (p.Val1665fs)
|
|
|
NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter)
|
rs876658947
|
|
NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter)
|
rs730882165
|
|
NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter)
|
rs80357204
|
|
NM_007294.4(BRCA1):c.5027T>G (p.Leu1676Ter)
|
rs786203754
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)
|
rs80357623
|
|
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)
|
rs80357896
|
|
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
|
rs879255283
|
|
NM_007294.4(BRCA1):c.5051_5052dup (p.Thr1685fs)
|
|
|
NM_007294.4(BRCA1):c.5052_5053dup (p.Thr1685fs)
|
rs1597825743
|
|
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala)
|
rs80356890
|
|
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)
|
rs80358344
|
|
NM_007294.4(BRCA1):c.5059del (p.Val1687fs)
|
rs1555579633
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)
|
rs397507239
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1G>C
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1G>T
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5074+872_5193+2569dup
|
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075-1G>C
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)
|
rs80356896
|
|
NM_007294.4(BRCA1):c.5080del (p.Glu1694fs)
|
rs1555578650
|
|
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs)
|
rs80357760
|
|
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs)
|
rs80357710
|
|
NM_007294.4(BRCA1):c.5091_5092dup (p.Glu1698fs)
|
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)
|
rs397509227
|
|
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)
|
rs80357608
|
|
NM_007294.4(BRCA1):c.5106del (p.Lys1702fs)
|
rs80357553
|
|
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)
|
rs80356974
|
|
NM_007294.4(BRCA1):c.5112del (p.Phe1704_Leu1705insTer)
|
rs397509228
|
|
NM_007294.4(BRCA1):c.5113_5121delinsA (p.Leu1705fs)
|
|
|
NM_007294.4(BRCA1):c.5116G>T (p.Gly1706Ter)
|
rs886040864
|
|
NM_007294.4(BRCA1):c.5117del (p.Gly1706fs)
|
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5126del (p.Gly1709fs)
|
rs80357874
|
|
NM_007294.4(BRCA1):c.512dup (p.Gln172fs)
|
rs587781487
|
|
NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter)
|
rs876658672
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.5137dup (p.Val1713fs)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.5138T>G (p.Val1713Gly)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5138_5139delinsGG (p.Val1713Gly)
|
|
|
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)
|
rs80357243
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
NM_007294.4(BRCA1):c.5152+1G>A
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>C
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>T
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+2T>C
|
rs886040914
|
|
NM_007294.4(BRCA1):c.5152+5G>A
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152+6T>C
|
rs80358074
|
|
NM_007294.4(BRCA1):c.5152+6T>G
|
rs80358074
|
|
NM_007294.4(BRCA1):c.5153-19_5160del
|
|
|
NM_007294.4(BRCA1):c.5153-1G>A
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5153G>A (p.Trp1718Ter)
|
rs41293461
|
|
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5155dup
|
rs80357743
|
|
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)
|
rs878854957
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5176del (p.Arg1726fs)
|
rs876658478
|
|
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)
|
rs80357867
|
|
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)
|
rs80357347
|
|
NM_007294.4(BRCA1):c.5182del (p.Met1728fs)
|
rs34570933
|
|
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)
|
rs397507244
|
|
NM_007294.4(BRCA1):c.5193+1G>A
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1G>C
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1G>T
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1del
|
rs397509236
|
|
NM_007294.4(BRCA1):c.5193+2del
|
rs273901751
|
|
NM_007294.4(BRCA1):c.5193+2dup
|
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5194-1G>T
|
rs80358173
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile)
|
rs80356957
|
|
NM_007294.4(BRCA1):c.5201T>G (p.Phe1734Cys)
|
rs397509237
|
|
NM_007294.4(BRCA1):c.5202del (p.Phe1734fs)
|
rs876659867
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5209_5248delinsTC (p.Arg1737fs)
|
rs273901753
|
|
NM_007294.4(BRCA1):c.520del (p.Gln174fs)
|
rs80357639
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5213_5278-2753delinsT
|
|
|
NM_007294.4(BRCA1):c.5223del (p.Asn1742fs)
|
rs1597810843
|
|
NM_007294.4(BRCA1):c.5230del (p.Arg1744fs)
|
rs397509240
|
|
NM_007294.4(BRCA1):c.5234dup (p.Asn1745fs)
|
rs886038042
|
|
NM_007294.4(BRCA1):c.5236del (p.His1746fs)
|
rs876659483
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5249dup (p.Arg1751fs)
|
rs879253993
|
|
NM_007294.4(BRCA1):c.5250del (p.Lys1750fs)
|
rs1555576868
|
|
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5255C>A (p.Ala1752Glu)
|
rs80357028
|
|
NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter)
|
rs80357432
|
|
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter)
|
rs397509247
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5269_5273del (p.Asp1757fs)
|
rs786202040
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+1G>T
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+1del
|
rs273901754
|
|
NM_007294.4(BRCA1):c.5278-1G>A
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5278-1G>T
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5289del (p.Gly1763_Leu1764insTer)
|
rs80357886
|
|
NM_007294.4(BRCA1):c.5289dup (p.Leu1764fs)
|
rs80357886
|
|
NM_007294.4(BRCA1):c.5296dup (p.Ile1766fs)
|
rs1555575732
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)
|
rs886040289
|
|
NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter)
|
rs397509258
|
|
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
|
rs863224765
|
|
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)
|
rs587781825
|
|
NM_007294.4(BRCA1):c.5310del (p.Phe1772fs)
|
rs80357581
|
|
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)
|
rs80357823
|
|
NM_007294.4(BRCA1):c.5328del (p.Thr1777fs)
|
rs80357751
|
|
NM_007294.4(BRCA1):c.5328dup (p.Thr1777fs)
|
rs80357751
|
|
NM_007294.4(BRCA1):c.5332+1G>A
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+2T>C
|
rs80358182
|
|
NM_007294.4(BRCA1):c.5333-1G>A
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-1G>C
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-1G>T
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-2A>T
|
rs397509264
|
|
NM_007294.4(BRCA1):c.5333-36_5406+400del
|
rs1555574977
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
NM_007294.4(BRCA1):c.5335C>T (p.Gln1779Ter)
|
rs397509267
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter)
|
rs80357219
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
NM_007294.4(BRCA1):c.5350del (p.Val1784fs)
|
rs2051091746
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
NM_007294.4(BRCA1):c.5353_5354dup (p.Gln1785fs)
|
rs886040293
|
|
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)
|
rs786203663
|
|
NM_007294.4(BRCA1):c.5361_5362del (p.Cys1787fs)
|
rs886040294
|
|
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)
|
rs80357055
|
|
NM_007294.4(BRCA1):c.5390C>G (p.Ser1797Ter)
|
rs879255492
|
|
NM_007294.4(BRCA1):c.5406+1G>A
|
rs80358028
|
|
NM_007294.4(BRCA1):c.5406+2T>A
|
rs2051071309
|
|
NM_007294.4(BRCA1):c.5406+4A>G
|
rs397509279
|
|
NM_007294.4(BRCA1):c.5406+5G>C
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5407-1G>A
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)
|
rs80357558
|
|
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)
|
rs80357934
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.5432_5439del (p.Gln1811fs)
|
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)
|
rs397509284
|
|
NM_007294.4(BRCA1):c.5449G>T (p.Glu1817Ter)
|
rs80356868
|
|
NM_007294.4(BRCA1):c.5450_5451del (p.Glu1817fs)
|
rs397509286
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
NM_007294.4(BRCA1):c.5467+1_5467+16del
|
rs2152760370
|
|
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5467G>T (p.Ala1823Ser)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5468-1G>A
|
rs80358048
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+1G>T
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA
|
rs80357973
|
|
NM_007294.4(BRCA1):c.5474_5481del (p.Gly1825fs)
|
rs730881441
|
|
NM_007294.4(BRCA1):c.5476del (p.Gln1826fs)
|
rs2152575457
|
|
NM_007294.4(BRCA1):c.5478_5479dup (p.Met1827fs)
|
rs80357757
|
|
NM_007294.4(BRCA1):c.5490del (p.Pro1831fs)
|
rs80357976
|
|
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs)
|
rs80357582
|
|
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)
|
rs80357307
|
|
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5512del (p.Val1838fs)
|
rs80357839
|
|
NM_007294.4(BRCA1):c.5521del (p.Ser1841fs)
|
rs80357721
|
|
NM_007294.4(BRCA1):c.5533dup (p.Tyr1845fs)
|
rs397509294
|
|
NM_007294.4(BRCA1):c.5534del (p.Tyr1845fs)
|
rs1060505048
|
|
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)
|
rs80356873
|
|
NM_007294.4(BRCA1):c.5542C>T (p.Gln1848Ter)
|
rs886040303
|
|
NM_007294.4(BRCA1):c.5554_5558del (p.Thr1852fs)
|
rs1597796682
|
|
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)
|
rs886040305
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.671-1G>A
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-2A>C
|
rs80358108
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter)
|
rs879255319
|
|
NM_007294.4(BRCA1):c.67G>T (p.Glu23Ter)
|
rs372047427
|
|
NM_007294.4(BRCA1):c.67del (p.Glu23fs)
|
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter)
|
rs1555593310
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.697_698del (p.Val233fs)
|
rs80357747
|
|
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
NM_007294.4(BRCA1):c.700del (p.Thr234fs)
|
|
|
NM_007294.4(BRCA1):c.706dup (p.Thr236fs)
|
rs1555593279
|
|
NM_007294.4(BRCA1):c.70T>A (p.Cys24Ser)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.715del (p.His239fs)
|
rs879255294
|
|
NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter)
|
rs886040313
|
|
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr)
|
rs80357198
|
|
NM_007294.4(BRCA1):c.738dup (p.Asn247fs)
|
rs1597880292
|
|
NM_007294.4(BRCA1):c.754del (p.Arg252fs)
|
rs1555593195
|
|
NM_007294.4(BRCA1):c.75del (p.Ile26fs)
|
rs80357633
|
|
NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter)
|
rs80357009
|
|
NM_007294.4(BRCA1):c.778A>T (p.Lys260Ter)
|
rs786202263
|
|
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter)
|
rs80357321
|
|
NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter)
|
rs886037979
|
|
NM_007294.4(BRCA1):c.794_795del (p.Ser265fs)
|
rs80357955
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.799dup (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.80+1G>A
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+1G>C
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+2T>G
|
rs80358128
|
|
NM_007294.4(BRCA1):c.80+4A>T
|
rs80358003
|
|
NM_007294.4(BRCA1):c.80+5G>A
|
rs80358045
|
|
NM_007294.4(BRCA1):c.80+5G>T
|
rs80358045
|
|
NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter)
|
rs80357392
|
|
NM_007294.4(BRCA1):c.806T>A (p.Leu269Ter)
|
|
|
NM_007294.4(BRCA1):c.81-1794_134+629dup
|
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-1G>T
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-2del
|
rs273902791
|
|
NM_007294.4(BRCA1):c.81-9C>G
|
rs80358127
|
|
NM_007294.4(BRCA1):c.814G>T (p.Glu272Ter)
|
rs886040321
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007294.4(BRCA1):c.824_833dup (p.Ala280fs)
|
|
|
NM_007294.4(BRCA1):c.825_828delinsAAT (p.Thr276fs)
|
rs1555593020
|
|
NM_007294.4(BRCA1):c.832dup (p.Thr278fs)
|
rs886040325
|
|
NM_007294.4(BRCA1):c.835del (p.His279fs)
|
rs80357523
|
|
NM_007294.4(BRCA1):c.83_84del (p.Leu28fs)
|
rs80357728
|
|
NM_007294.4(BRCA1):c.83del (p.Leu28fs)
|
rs1555599281
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)
|
rs80357989
|
|
NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter)
|
rs397509330
|
|
NM_007294.4(BRCA1):c.851_852del (p.Gln284fs)
|
rs80357719
|
|
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)
|
rs730881468
|
|
NM_007294.4(BRCA1):c.875del (p.Leu292fs)
|
rs886037981
|
|
NM_007294.4(BRCA1):c.886del (p.Arg296fs)
|
rs869320786
|
|
NM_007294.4(BRCA1):c.891_896delinsTC (p.Met297fs)
|
rs1064793967
|
|
NM_007294.4(BRCA1):c.892_895dup (p.Val299fs)
|
rs80357806
|
|
NM_007294.4(BRCA1):c.895_896del (p.Val299fs)
|
rs80357670
|
|
NM_007294.4(BRCA1):c.89T>A (p.Leu30Ter)
|
rs397509331
|
|
NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter)
|
rs397509332
|
|
NM_007294.4(BRCA1):c.904del (p.Ala302fs)
|
rs273903793
|
|
NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer)
|
rs397509335
|
|
NM_007294.4(BRCA1):c.923del (p.Ser308fs)
|
rs80357953
|
|
NM_007294.4(BRCA1):c.924del (p.Ser308fs)
|
rs397509336
|
|
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)
|
rs879255498
|
|
NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter)
|
rs397509338
|
|
NM_007294.4(BRCA1):c.929del (p.Gln310fs)
|
rs80357844
|
|
NM_007294.4(BRCA1):c.930del (p.Gln310fs)
|
rs80357689
|
|
NM_007294.4(BRCA1):c.931_934dup (p.Gly312fs)
|
rs1597879048
|
|
NM_007294.4(BRCA1):c.936del (p.Gly312_Leu313insTer)
|
rs398122709
|
|
NM_007294.4(BRCA1):c.949C>T (p.Gln317Ter)
|
rs80357211
|
|
NM_007294.4(BRCA1):c.951del (p.Gln317fs)
|
rs1555592776
|
|
NM_007294.4(BRCA1):c.952_1015del (p.His318fs)
|
rs80359872
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter)
|
rs886040335
|
|
NM_007294.4(BRCA1):c.964del (p.Ala322fs)
|
rs273903794
|
|
NM_007294.4(BRCA1):c.979del (p.Thr327fs)
|
rs886040337
|
|
NM_007294.4(BRCA1):c.97G>T (p.Glu33Ter)
|
rs80357066
|
|
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)
|
rs80357772
|
|
NM_007294.4(BRCA1):c.984_985insC (p.Asn329fs)
|
rs80357775
|
|
NM_007294.4(BRCA1):c.998_1010del (p.Thr333fs)
|
rs1555592676
|
|