ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1045
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HGVS dbSNP gnomAD frequency
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

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