NM_007294.4(BRCA1):c.5332+4A>G
|
rs80358166
|
0.00002
|
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
NM_007294.4(BRCA1):c.4185+4105C>T
|
rs1597853155
|
0.00001
|
NM_007294.4(BRCA1):c.442-1G>T
|
rs1351019392
|
0.00001
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro)
|
rs80357474
|
0.00001
|
NM_007294.4(BRCA1):c.5467+1G>A
|
rs80358145
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
GRCh37/hg19 17q21.31(chr17:41199581-41231493)x4
|
|
|
GRCh37/hg19 17q21.31(chr17:41251742-41267846)x3
|
|
|
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
|
|
|
NG_005905.2:g.(111529_113027)_(147057_150288)del
|
|
|
NG_005905.2:g.(141497_143462)_(154111_154610)dup
|
|
|
NG_005905.2:g.(92714_93868)_(173690_?)del
|
|
|
NM_007294.3(BRCA1):c.5543_5545delAGGins43 (p.?)
|
|
|
NM_007294.3(BRCA1):c.[-1A>G;3G>A]
|
|
|
NM_007294.4(BRCA1):c.1015A>T (p.Lys339Ter)
|
rs55842957
|
|
NM_007294.4(BRCA1):c.104T>C (p.Val35Ala)
|
rs1235706456
|
|
NM_007294.4(BRCA1):c.109A>G (p.Thr37Ala)
|
rs2055253295
|
|
NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs)
|
rs2154475092
|
|
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)
|
rs80357498
|
|
NM_007294.4(BRCA1):c.1194dup (p.His399fs)
|
rs1555592264
|
|
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.121dup (p.His41fs)
|
rs1555599226
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.134+2T>G
|
rs80358131
|
|
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.134+5G>T
|
rs80358038
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)
|
rs80357734
|
|
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.1485del (p.Glu495fs)
|
rs1555591703
|
|
NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)
|
rs876659139
|
|
NM_007294.4(BRCA1):c.166_169del (p.Lys56fs)
|
rs2154555258
|
|
NM_007294.4(BRCA1):c.1687del (p.Gln563fs)
|
|
|
NM_007294.4(BRCA1):c.1728_1731del (p.Lys576fs)
|
rs2154427544
|
|
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)
|
rs28897672
|
|
NM_007294.4(BRCA1):c.182_183del (p.Cys61fs)
|
rs397508912
|
|
NM_007294.4(BRCA1):c.190T>A (p.Cys64Ser)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter)
|
rs878854935
|
|
NM_007294.4(BRCA1):c.1929_1930delinsA (p.Ser643fs)
|
rs886039982
|
|
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)
|
rs587781632
|
|
NM_007294.4(BRCA1):c.1967_1985del (p.Asn656fs)
|
|
|
NM_007294.4(BRCA1):c.1978del (p.Val660fs)
|
rs886039988
|
|
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)
|
rs863224510
|
|
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
|
rs80357298
|
|
NM_007294.4(BRCA1):c.213-5T>A
|
rs886038196
|
|
NM_007294.4(BRCA1):c.2131A>T (p.Lys711Ter)
|
|
|
NM_007294.4(BRCA1):c.2133del (p.Lys711fs)
|
|
|
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)
|
rs273898681
|
|
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs)
|
rs2053797991
|
|
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)
|
rs431825390
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)
|
rs55914168
|
|
NM_007294.4(BRCA1):c.2405dup (p.Ser803fs)
|
|
|
NM_007294.4(BRCA1):c.2569_2570del (p.Leu857fs)
|
|
|
NM_007294.4(BRCA1):c.2630del (p.Asn877fs)
|
rs886038002
|
|
NM_007294.4(BRCA1):c.2632_2653del (p.Ala878fs)
|
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
NM_007294.4(BRCA1):c.2817del (p.Asp940fs)
|
|
|
NM_007294.4(BRCA1):c.2844_2845del (p.Gly949fs)
|
|
|
NM_007294.4(BRCA1):c.287A>C (p.Asp96Ala)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)
|
rs878854940
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
NM_007294.4(BRCA1):c.2930del (p.Pro977fs)
|
|
|
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)
|
rs80357111
|
|
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter)
|
rs886038007
|
|
NM_007294.4(BRCA1):c.302-3C>G
|
rs80358051
|
|
NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs)
|
rs1064794177
|
|
NM_007294.4(BRCA1):c.315T>G (p.Tyr105Ter)
|
rs2054639807
|
|
NM_007294.4(BRCA1):c.346del (p.Glu116fs)
|
rs762635795
|
|
NM_007294.4(BRCA1):c.38_39delinsGGG (p.Asn13fs)
|
rs1567823382
|
|
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)
|
rs879255485
|
|
NM_007294.4(BRCA1):c.4106_4110delinsATC (p.Ala1369fs)
|
|
|
NM_007294.4(BRCA1):c.4146C>A (p.Cys1382Ter)
|
rs1057517574
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185_4185+1del
|
|
|
NM_007294.4(BRCA1):c.4192del (p.Asp1398fs)
|
|
|
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr)
|
rs273900729
|
|
NM_007294.4(BRCA1):c.4321del (p.Asp1441fs)
|
rs80357748
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4356del (p.Ala1453fs)
|
rs1567782959
|
|
NM_007294.4(BRCA1):c.4356dup (p.Ala1453fs)
|
rs1567782959
|
|
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)
|
rs786204267
|
|
NM_007294.4(BRCA1):c.442-2A>G
|
rs80358155
|
|
NM_007294.4(BRCA1):c.442-7T>A
|
rs886040909
|
|
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter)
|
rs876659614
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484+5G>A
|
rs886040910
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4511T>G (p.Leu1504Ter)
|
|
|
NM_007294.4(BRCA1):c.4533_4534insT (p.Ser1512Ter)
|
|
|
NM_007294.4(BRCA1):c.4568del (p.Pro1523fs)
|
rs1567778075
|
|
NM_007294.4(BRCA1):c.4645_4646dup (p.Thr1550fs)
|
rs2153992821
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
NM_007294.4(BRCA1):c.4658del (p.Leu1553fs)
|
rs2052588740
|
|
NM_007294.4(BRCA1):c.4675+2T>G
|
rs879255293
|
|
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
|
NM_007294.4(BRCA1):c.4676-1G>C
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4810del (p.Gln1604fs)
|
rs1555580900
|
|
NM_007294.4(BRCA1):c.4821del (p.Ala1608fs)
|
rs2153836342
|
|
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs)
|
rs730880287
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)
|
rs1173155015
|
|
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)
|
rs1057518639
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
NM_007294.4(BRCA1):c.4987-16T>G
|
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4988T>G (p.Met1663Arg)
|
rs80357205
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.503_505delinsT (p.Lys168fs)
|
|
|
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
|
rs879255283
|
|
NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs)
|
rs879254050
|
|
NM_007294.4(BRCA1):c.5056C>G (p.His1686Asp)
|
rs1555579648
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5073A>T (p.Thr1691=)
|
rs80356853
|
|
NM_007294.4(BRCA1):c.5074+1G>T
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1del
|
rs1597825560
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5074+3A>G
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-3C>G
|
rs398122690
|
|
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)
|
rs397509222
|
|
NM_007294.4(BRCA1):c.5076T>A (p.Asp1692Glu)
|
rs2051937547
|
|
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)
|
rs80358345
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs)
|
rs80357710
|
|
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)
|
rs397507241
|
|
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)
|
rs41293459
|
|
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)
|
rs41293459
|
|
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp)
|
rs863224763
|
|
NM_007294.4(BRCA1):c.5111T>A (p.Phe1704Tyr)
|
rs1555578598
|
|
NM_007294.4(BRCA1):c.5111T>C (p.Phe1704Ser)
|
rs1555578598
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5131A>G (p.Lys1711Glu)
|
rs886040272
|
|
NM_007294.4(BRCA1):c.5133del (p.Lys1711fs)
|
rs730880288
|
|
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+2dup
|
rs397509231
|
|
NM_007294.4(BRCA1):c.5152+5G>A
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152+5G>C
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152+6T>C
|
rs80358074
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser)
|
rs41293461
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5156del (p.Val1719fs)
|
rs1057517590
|
|
NM_007294.4(BRCA1):c.5161del (p.Gln1721fs)
|
rs2051868691
|
|
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)
|
rs483353100
|
|
NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5186del (p.Leu1729fs)
|
rs398122692
|
|
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)
|
rs397507244
|
|
NM_007294.4(BRCA1):c.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile)
|
rs80356957
|
|
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu)
|
rs869320780
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)
|
rs80357450
|
|
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr)
|
rs80357283
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
NM_007294.4(BRCA1):c.5219_5224del (p.Val1740_Asn1742delinsAsp)
|
rs1555576941
|
|
NM_007294.4(BRCA1):c.5227G>A (p.Gly1743Arg)
|
rs2051517323
|
|
NM_007294.4(BRCA1):c.5240A>C (p.Gln1747Pro)
|
rs2051510661
|
|
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5300G>T (p.Cys1767Phe)
|
rs1597804426
|
|
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)
|
rs886040289
|
|
NM_007294.4(BRCA1):c.5306dup (p.Tyr1769Ter)
|
rs2153070428
|
|
NM_007294.4(BRCA1):c.5307T>G (p.Tyr1769Ter)
|
rs397509258
|
|
NM_007294.4(BRCA1):c.5307_5308insCACCAACATGCCCTTCACCT (p.Gly1770fs)
|
rs2153069688
|
|
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.5324T>A (p.Met1775Lys)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.5327_5328dup (p.Thr1777fs)
|
|
|
NM_007294.4(BRCA1):c.5333-1G>A
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-2A>T
|
rs397509264
|
|
NM_007294.4(BRCA1):c.5333-6T>G
|
rs397509266
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
|
rs397509271
|
|
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)
|
rs80357069
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.53T>G (p.Met18Arg)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5406+2T>G
|
rs2051071309
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)
|
rs80357040
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs)
|
rs1057517637
|
|
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5468-2A>G
|
rs398122699
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5503C>G (p.Arg1835Gly)
|
rs41293465
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly)
|
rs80357107
|
|
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)
|
rs398122702
|
|
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)
|
rs80357299
|
|
NM_007294.4(BRCA1):c.5534_5539delinsCCAGTGCCAGGACAGCAGG (p.Tyr1845fs)
|
rs483353102
|
|
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)
|
rs80356873
|
|
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)
|
rs397509295
|
|
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)
|
rs886040305
|
|
NM_007294.4(BRCA1):c.5557del (p.Tyr1853fs)
|
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.5578del (p.His1860fs)
|
rs397507254
|
|
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)
|
rs397507254
|
|
NM_007294.4(BRCA1):c.593+1G>A
|
rs1567804153
|
|
NM_007294.4(BRCA1):c.593+4del
|
rs1555594036
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.670+1G>A
|
|
|
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr)
|
rs431825419
|
|
NM_007294.4(BRCA1):c.671-1G>A
|
rs80358020
|
|
NM_007294.4(BRCA1):c.672del (p.Ala225fs)
|
rs2154500888
|
|
NM_007294.4(BRCA1):c.67_72del (p.Glu23_Cys24del)
|
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.715del (p.His239fs)
|
rs879255294
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.80+5G>A
|
rs80358045
|
|
NM_007294.4(BRCA1):c.83del (p.Leu28fs)
|
rs1555599281
|
|
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)
|
rs730881468
|
|
NM_007294.4(BRCA1):c.915dup (p.Asn306Ter)
|
rs2154485546
|
|
NP_009225.1(BRCA1):p.Trp1837Arg
|
|
|