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.4097-2A>G
|
rs80358019
|
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.4573C>T (p.Gln1525Ter)
|
rs886040237
|
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.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.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
|
NC_000017.10:g.(?_41196279)_(41197784_?)del
|
|
|
NC_000017.10:g.(?_41196280)_(41197785_?)del
|
|
|
NC_000017.10:g.(?_41196353)_(41215988_?)del
|
|
|
NC_000017.10:g.(?_41196353)_(41228651_?)del
|
|
|
NC_000017.10:g.(?_41196353)_(41249326_?)del
|
|
|
NC_000017.10:g.(?_41196977)_(41199745_?)del
|
|
|
NC_000017.10:g.(?_41196977)_(41209172_?)del
|
|
|
NC_000017.10:g.(?_41196977)_(41277500_?)del
|
|
|
NC_000017.10:g.(?_41197637)_(41234612_?)del
|
|
|
NC_000017.10:g.(?_41197637)_(41247959_?)del
|
|
|
NC_000017.10:g.(?_41197637)_(41251921_?)del
|
|
|
NC_000017.10:g.(?_41197689)_(41209158_?)del
|
|
|
NC_000017.10:g.(?_41197695)_(41199745_?)del
|
|
|
NC_000017.10:g.(?_41197695)_(41203154_?)del
|
|
|
NC_000017.10:g.(?_41197695)_(41251917_?)del
|
|
|
NC_000017.10:g.(?_41197695)_(41277500_?)del
|
|
|
NC_000017.10:g.(?_41199640)_(41199745_?)del
|
|
|
NC_000017.10:g.(?_41199640)_(41201231_?)del
|
|
|
NC_000017.10:g.(?_41199640)_(41203154_?)del
|
|
|
NC_000017.10:g.(?_41199654)_(41203140_?)del
|
|
|
NC_000017.10:g.(?_41199654)_(41276119_?)del
|
|
|
NC_000017.10:g.(?_41201105)_(41201221_?)del
|
|
|
NC_000017.10:g.(?_41201118)_(41201231_?)del
|
|
|
NC_000017.10:g.(?_41201118)_(41203154_?)del
|
|
|
NC_000017.10:g.(?_41203060)_(41203154_?)del
|
|
|
NC_000017.10:g.(?_41203060)_(41277500_?)del
|
|
|
NC_000017.10:g.(?_41205887)_(41209133_?)del
|
|
|
NC_000017.10:g.(?_41206281)_(41209103_?)del
|
|
|
NC_000017.10:g.(?_41209048)_(41215988_?)del
|
|
|
NC_000017.10:g.(?_41209048)_(41219732_?)del
|
|
|
NC_000017.10:g.(?_41209048)_(41223340_?)del
|
|
|
NC_000017.10:g.(?_41209048)_(41226558_?)del
|
|
|
NC_000017.10:g.(?_41209048)_(41228651_?)del
|
|
|
NC_000017.10:g.(?_41209049)_(41228651_?)del
|
|
|
NC_000017.10:g.(?_41209049)_(41228666_?)del
|
|
|
NC_000017.10:g.(?_41211000)_(41243958_?)del
|
|
|
NC_000017.10:g.(?_41215238)_(41258921_?)del
|
|
|
NC_000017.10:g.(?_41215330)_(41215988_?)del
|
|
|
NC_000017.10:g.(?_41215330)_(41215988_?)dup
|
|
|
NC_000017.10:g.(?_41215330)_(41215996_?)del
|
|
|
NC_000017.10:g.(?_41215330)_(41219732_?)del
|
|
|
NC_000017.10:g.(?_41215330)_(41223340_?)del
|
|
|
NC_000017.10:g.(?_41215330)_(41226558_?)del
|
|
|
NC_000017.10:g.(?_41215330)_(41228651_?)del
|
|
|
NC_000017.10:g.(?_41215330)_(41234612_?)del
|
|
|
NC_000017.10:g.(?_41215330)_(41238856_?)del
|
|
|
NC_000017.10:g.(?_41215330)_(41249326_?)del
|
|
|
NC_000017.10:g.(?_41215344)_(41276119_?)del
|
|
|
NC_000017.10:g.(?_41219605)_(41219732_?)del
|
|
|
NC_000017.10:g.(?_41219605)_(41219732_?)dup
|
|
|
NC_000017.10:g.(?_41219605)_(41221064_?)del
|
|
|
NC_000017.10:g.(?_41219605)_(41223275_?)del
|
|
|
NC_000017.10:g.(?_41219605)_(41223340_?)del
|
|
|
NC_000017.10:g.(?_41219605)_(41228651_?)del
|
|
|
NC_000017.10:g.(?_41219605)_(41251921_?)del
|
|
|
NC_000017.10:g.(?_41222925)_(41223275_?)del
|
|
|
NC_000017.10:g.(?_41222925)_(41223340_?)del
|
|
|
NC_000017.10:g.(?_41222925)_(41226558_?)del
|
|
|
NC_000017.10:g.(?_41222925)_(41228651_?)del
|
|
|
NC_000017.10:g.(?_41222925)_(41228666_?)dup
|
|
|
NC_000017.10:g.(?_41222925)_(41267816_?)del
|
|
|
NC_000017.10:g.(?_41222945)_(41228631_?)dup
|
|
|
NC_000017.10:g.(?_41222963)_(41230954_?)del
|
|
|
NC_000017.10:g.(?_41226328)_(41226558_?)del
|
|
|
NC_000017.10:g.(?_41226328)_(41234612_?)del
|
|
|
NC_000017.10:g.(?_41226328)_(41246897_?)del
|
|
|
NC_000017.10:g.(?_41226328)_(41258570_?)del
|
|
|
NC_000017.10:g.(?_41226328)_(41277500_?)del
|
|
|
NC_000017.10:g.(?_41226342)_(41226544_?)del
|
|
|
NC_000017.10:g.(?_41228485)_(41228651_?)del
|
|
|
NC_000017.10:g.(?_41228485)_(41228666_?)del
|
|
|
NC_000017.10:g.(?_41228485)_(41258570_?)del
|
|
|
NC_000017.10:g.(?_41228485)_(41277500_?)del
|
|
|
NC_000017.10:g.(?_41232561)_(41244132_?)del
|
|
|
NC_000017.10:g.(?_41234401)_(41234612_?)dup
|
|
|
NC_000017.10:g.(?_41234401)_(41236614_?)del
|
|
|
NC_000017.10:g.(?_41234401)_(41249326_?)del
|
|
|
NC_000017.10:g.(?_41234401)_(41251921_?)del
|
|
|
NC_000017.10:g.(?_41234401)_(41277500_?)del
|
|
|
NC_000017.10:g.(?_41234415)_(41276119_?)del
|
|
|
NC_000017.10:g.(?_41236868)_(41246163_?)del
|
|
|
NC_000017.10:g.(?_41236869)_(41246163_?)del
|
|
|
NC_000017.10:g.(?_41238856)_(41249326_?)del
|
|
|
NC_000017.10:g.(?_41239343)_(41245904_?)del
|
|
|
NC_000017.10:g.(?_41242664)_(41246581_?)del
|
|
|
NC_000017.10:g.(?_41242725)_(41243458_?)del
|
|
|
NC_000017.10:g.(?_41242941)_(41243069_?)del
|
|
|
NC_000017.10:g.(?_41242941)_(41249326_?)del
|
|
|
NC_000017.10:g.(?_41242941)_(41267816_?)del
|
|
|
NC_000017.10:g.(?_41242955)_(41246883_?)del
|
|
|
NC_000017.10:g.(?_41242955)_(41276119_?)del
|
|
|
NC_000017.10:g.(?_41245486)_(41260384_?)del
|
|
|
NC_000017.10:g.(?_41249241)_(41251917_?)del
|
|
|
NC_000017.10:g.(?_41249241)_(41251921_?)del
|
|
|
NC_000017.10:g.(?_41251627)_(41251803_?)del
|
|
|
NC_000017.10:g.(?_41251772)_(41251917_?)del
|
|
|
NC_000017.10:g.(?_41251772)_(41251921_?)del
|
|
|
NC_000017.10:g.(?_41251772)_(41256993_?)del
|
|
|
NC_000017.10:g.(?_41256119)_(41258570_?)del
|
|
|
NC_000017.10:g.(?_41256129)_(41258568_?)del
|
|
|
NC_000017.10:g.(?_41256865)_(41277500_?)del
|
|
|
NC_000017.10:g.(?_41258383)_(41258523_?)del
|
|
|
NC_000017.10:g.(?_41258453)_(41258570_?)del
|
|
|
NC_000017.10:g.(?_41258453)_(41267816_?)del
|
|
|
NC_000017.10:g.(?_41266736)_(41267772_?)del
|
|
|
NC_000017.10:g.(?_41267723)_(41267816_?)del
|
|
|
NC_000017.10:g.(?_41276014)_(41276152_?)del
|
|
|
NC_000017.10:g.(?_41276015)_41277500del
|
|
|
NC_000017.11:g.(?_43044295)_(43045802_?)del
|
|
|
NC_000017.11:g.(?_43044295)_(43057135_?)del
|
|
|
NC_000017.11:g.(?_43044336)_(43045822_?)del
|
|
|
NC_000017.11:g.(?_43044336)_(43047728_?)del
|
|
|
NC_000017.11:g.(?_43044336)_(43051137_?)del
|
|
|
NC_000017.11:g.(?_43044336)_(43099904_?)del
|
|
|
NC_000017.11:g.(?_43044336)_(43125483_?)del
|
|
|
NC_000017.11:g.(?_43044878)_(43045822_?)del
|
|
|
NC_000017.11:g.(?_43044960)_(43045822_?)del
|
|
|
NC_000017.11:g.(?_43044960)_(43071323_?)del
|
|
|
NC_000017.11:g.(?_43045620)_(43047728_?)del
|
|
|
NC_000017.11:g.(?_43045658)_(43045822_?)del
|
|
|
NC_000017.11:g.(?_43045658)_(43047723_?)del
|
|
|
NC_000017.11:g.(?_43045658)_(43051137_?)del
|
|
|
NC_000017.11:g.(?_43045658)_(43067715_?)del
|
|
|
NC_000017.11:g.(?_43045658)_(43097309_?)del
|
|
|
NC_000017.11:g.(?_43045658)_(43099900_?)del
|
|
|
NC_000017.11:g.(?_43045658)_(43106553_?)del
|
|
|
NC_000017.11:g.(?_43045672)_(43047709_?)del
|
|
|
NC_000017.11:g.(?_43045678)_(43051117_?)del
|
|
|
NC_000017.11:g.(?_43049101)_(43082595_?)del
|
|
|
NC_000017.11:g.(?_43051057)_(43051123_?)del
|
|
|
NC_000017.11:g.(?_43057031)_(43057155_?)del
|
|
|
NC_000017.11:g.(?_43057032)_(43057155_?)del
|
|
|
NC_000017.11:g.(?_43057032)_(43063971_?)del
|
|
|
NC_000017.11:g.(?_43057032)_(43074541_?)del
|
|
|
NC_000017.11:g.(?_43057046)_(43057141_?)del
|
|
|
NC_000017.11:g.(?_43057046)_(43074527_?)del
|
|
|
NC_000017.11:g.(?_43063327)_(43063379_?)del
|
|
|
NC_000017.11:g.(?_43067588)_(43074541_?)del
|
|
|
NC_000017.11:g.(?_43070908)_(43076634_?)dup
|
|
|
NC_000017.11:g.(?_43070922)_(43076620_?)del
|
|
|
NC_000017.11:g.(?_43082384)_(43082595_?)del
|
|
|
NC_000017.11:g.(?_43090924)_(43094880_?)del
|
|
|
NC_000017.11:g.(?_43095826)_(43106553_?)del
|
|
|
NC_000017.11:g.(?_43095840)_(43106539_?)del
|
|
|
NC_000017.11:g.(?_43099755)_(43106553_?)del
|
|
|
NC_000017.11:g.(?_43099755)_(43115799_?)del
|
|
|
NC_000017.11:g.(?_43099755)_(43125483_?)del
|
|
|
NC_000017.11:g.(?_43104102)_(43104281_?)del
|
|
|
NC_000017.11:g.(?_43104102)_(43115799_?)del
|
|
|
NC_000017.11:g.(?_43104116)_(43115785_?)del
|
|
|
NC_000017.11:g.(?_43104848)_(43106553_?)del
|
|
|
NC_000017.11:g.(?_43115614)_(43125483_?)del
|
|
|
NM_007294.3(BRCA1):c.(?_-1)_80+?del
|
|
|
NM_007294.3(BRCA1):c.-19-?_80+?del
|
|
|
NM_007294.3(BRCA1):c.135-?_441+?del
|
|
|
NM_007294.3(BRCA1):c.135-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.3108_3109insSVAelement
|
|
|
NM_007294.3(BRCA1):c.4186-?_4357+?dup172
|
|
|
NM_007294.3(BRCA1):c.4186-?_4675+?del
|
|
|
NM_007294.3(BRCA1):c.4186-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.4358-?_4484+?del
|
|
|
NM_007294.3(BRCA1):c.4358-?_5277+?del
|
|
|
NM_007294.3(BRCA1):c.442-?_547+?del
|
|
|
NM_007294.3(BRCA1):c.442-?_593+?del
|
|
|
NM_007294.3(BRCA1):c.4485-?_4675+?del
|
|
|
NM_007294.3(BRCA1):c.4485-?_4986+?del
|
|
|
NM_007294.3(BRCA1):c.4676-?_4986+?del
|
|
|
NM_007294.3(BRCA1):c.4676-?_5074+?del
|
|
|
NM_007294.3(BRCA1):c.4987-?_5074+?del
|
|
|
NM_007294.3(BRCA1):c.4987-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.5075-?_5193+?del
|
|
|
NM_007294.3(BRCA1):c.5075-?_5193+?dup119
|
|
|
NM_007294.3(BRCA1):c.5278-?_5406+?del
|
|
|
NM_007294.3(BRCA1):c.5278-?_5467+?del
|
|
|
NM_007294.3(BRCA1):c.5333-?_5406+?del
|
|
|
NM_007294.3(BRCA1):c.5407-?_*(1_?)del
|
|
|
NM_007294.3(BRCA1):c.5468_*1383del
|
|
|
NM_007294.3(BRCA1):c.81-?_134+?del
|
|
|
NM_007294.4(BRCA1):c.1003del (p.Ser335fs)
|
rs2154480585
|
|
NM_007294.4(BRCA1):c.1008del (p.Glu337fs)
|
rs2154480403
|
|
NM_007294.4(BRCA1):c.1009G>T (p.Glu337Ter)
|
rs2054008789
|
|
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.102del (p.Val35fs)
|
rs886039922
|
|
NM_007294.4(BRCA1):c.1031del (p.Ala344fs)
|
rs2054005225
|
|
NM_007294.4(BRCA1):c.1039_1040del (p.Leu347fs)
|
rs397508827
|
|
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)
|
rs886037985
|
|
NM_007294.4(BRCA1):c.1044_1045dup (p.Glu349fs)
|
rs1555592601
|
|
NM_007294.4(BRCA1):c.1049_1050del (p.Arg350fs)
|
rs886039925
|
|
NM_007294.4(BRCA1):c.104del (p.Val35fs)
|
|
|
NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter)
|
rs80356908
|
|
NM_007294.4(BRCA1):c.1058_1062del (p.Glu352_Trp353insTer)
|
rs1555592576
|
|
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)
|
rs80356935
|
|
NM_007294.4(BRCA1):c.105_134+1007del
|
|
|
NM_007294.4(BRCA1):c.1064del (p.Lys355fs)
|
|
|
NM_007294.4(BRCA1):c.1065del (p.Lys355fs)
|
|
|
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)
|
rs80357215
|
|
NM_007294.4(BRCA1):c.1067del (p.Gln356fs)
|
rs80357796
|
|
NM_007294.4(BRCA1):c.1069A>T (p.Lys357Ter)
|
rs2053998767
|
|
NM_007294.4(BRCA1):c.1071del (p.Lys357fs)
|
|
|
NM_007294.4(BRCA1):c.1071dup (p.Leu358fs)
|
rs2053998620
|
|
NM_007294.4(BRCA1):c.1072del (p.Leu358fs)
|
rs80357836
|
|
NM_007294.4(BRCA1):c.1080C>A (p.Cys360Ter)
|
rs886037986
|
|
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.1091_1092del (p.Pro364fs)
|
rs1555592526
|
|
NM_007294.4(BRCA1):c.1095del (p.Asp366fs)
|
rs2154476432
|
|
NM_007294.4(BRCA1):c.1099del (p.Thr367fs)
|
rs2154476235
|
|
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter)
|
rs80357139
|
|
NM_007294.4(BRCA1):c.1104_1108dup (p.Val370fs)
|
rs2154475632
|
|
NM_007294.4(BRCA1):c.1105dup (p.Asp369fs)
|
rs1555592498
|
|
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)
|
rs80357468
|
|
NM_007294.4(BRCA1):c.1121del (p.Thr374fs)
|
rs80357612
|
|
NM_007294.4(BRCA1):c.1123_1124delinsA (p.Leu375fs)
|
rs2053989334
|
|
NM_007294.4(BRCA1):c.1126_1129del (p.Asn376fs)
|
|
|
NM_007294.4(BRCA1):c.1127del (p.Asn376fs)
|
rs80357821
|
|
NM_007294.4(BRCA1):c.1129del (p.Ser377fs)
|
rs2053988613
|
|
NM_007294.4(BRCA1):c.1129dup (p.Ser377fs)
|
rs80357776
|
|
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)
|
rs80357949
|
|
NM_007294.4(BRCA1):c.1133del (p.Ser378fs)
|
rs1597877892
|
|
NM_007294.4(BRCA1):c.1138C>T (p.Gln380Ter)
|
rs397508840
|
|
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)
|
rs876659327
|
|
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)
|
rs80357385
|
|
NM_007294.4(BRCA1):c.1144del (p.Val382fs)
|
|
|
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.1159dup (p.Ser387fs)
|
rs397508842
|
|
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.1165del (p.Ser389fs)
|
rs80357985
|
|
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.117T>G (p.Cys39Trp)
|
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.1190del (p.Asp397fs)
|
rs748714307
|
|
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)
|
rs80357068
|
|
NM_007294.4(BRCA1):c.1193C>G (p.Ser398Ter)
|
rs80357068
|
|
NM_007294.4(BRCA1):c.1194dup (p.His399fs)
|
rs1555592264
|
|
NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter)
|
rs273897655
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1214C>A (p.Ser405Ter)
|
rs80357481
|
|
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)
|
rs80357481
|
|
NM_007294.4(BRCA1):c.1216_1217del (p.Asn406fs)
|
|
|
NM_007294.4(BRCA1):c.1217del (p.Asn406fs)
|
rs397508846
|
|
NM_007294.4(BRCA1):c.121C>A (p.His41Asn)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)
|
rs1060502353
|
|
NM_007294.4(BRCA1):c.1221del (p.Lys408_Val409insTer)
|
|
|
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.1230del (p.Asp411fs)
|
rs1555592108
|
|
NM_007294.4(BRCA1):c.1235_1238del (p.Val412fs)
|
|
|
NM_007294.4(BRCA1):c.1240_1246del (p.Leu413_Asp414insTer)
|
rs80357964
|
|
NM_007294.4(BRCA1):c.1240dup (p.Asp414fs)
|
rs786204260
|
|
NM_007294.4(BRCA1):c.124del (p.Ile42fs)
|
rs80357943
|
|
NM_007294.4(BRCA1):c.1251_1252delinsA (p.Asn417fs)
|
rs886040899
|
|
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.1258_1265del (p.Asp420fs)
|
|
|
NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter)
|
rs80357046
|
|
NM_007294.4(BRCA1):c.1265_1266dup (p.Ser423fs)
|
rs397508850
|
|
NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter)
|
rs80357417
|
|
NM_007294.4(BRCA1):c.1277C>G (p.Ser426Ter)
|
rs886039939
|
|
NM_007294.4(BRCA1):c.1277_1292del (p.Ser426fs)
|
rs2053962732
|
|
NM_007294.4(BRCA1):c.1277del (p.Ser425_Ser426insTer)
|
rs1064795775
|
|
NM_007294.4(BRCA1):c.1285del (p.Lys428_Ile429insTer)
|
rs1567800172
|
|
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)
|
rs80357576
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1293dup (p.Leu432fs)
|
rs1597876950
|
|
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.130T>C (p.Cys44Arg)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.130del (p.Cys44fs)
|
rs80357951
|
|
NM_007294.4(BRCA1):c.1315dup (p.Ala439fs)
|
rs1555591956
|
|
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131G>C (p.Cys44Ser)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
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.1330del (p.Ser444fs)
|
rs2053956161
|
|
NM_007294.4(BRCA1):c.1335_1336del (p.Arg446fs)
|
rs80357978
|
|
NM_007294.4(BRCA1):c.1338_1339del (p.Arg446fs)
|
|
|
NM_007294.4(BRCA1):c.133_134+1del
|
rs2154565302
|
|
NM_007294.4(BRCA1):c.133_134+3delinsT
|
rs397508856
|
|
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+1G>C
|
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.1340_1341insG (p.His448fs)
|
rs80357597
|
|
NM_007294.4(BRCA1):c.1345del (p.Ser449fs)
|
|
|
NM_007294.4(BRCA1):c.135-1G>A
|
rs80358158
|
|
NM_007294.4(BRCA1):c.135-1G>C
|
rs80358158
|
|
NM_007294.4(BRCA1):c.135-2A>G
|
rs80358065
|
|
NM_007294.4(BRCA1):c.1350del (p.Lys450fs)
|
rs2154456229
|
|
NM_007294.4(BRCA1):c.1352C>G (p.Ser451Ter)
|
rs80356891
|
|
NM_007294.4(BRCA1):c.1357G>T (p.Glu453Ter)
|
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1360del (p.Ser454fs)
|
rs2154453207
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
NM_007294.4(BRCA1):c.1374del (p.Asp458fs)
|
rs397508862
|
|
NM_007294.4(BRCA1):c.1375A>T (p.Lys459Ter)
|
rs886039947
|
|
NM_007294.4(BRCA1):c.1377_1378del (p.Lys459fs)
|
rs398122633
|
|
NM_007294.4(BRCA1):c.1378dup (p.Ile460fs)
|
rs398122633
|
|
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.1390_1391insG (p.Thr464fs)
|
rs397508867
|
|
NM_007294.4(BRCA1):c.1390del (p.Thr464fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1395T>G (p.Tyr465Ter)
|
rs2154448397
|
|
NM_007294.4(BRCA1):c.1395del (p.Arg466fs)
|
|
|
NM_007294.4(BRCA1):c.1398del (p.Lys467fs)
|
rs2053943650
|
|
NM_007294.4(BRCA1):c.1399_1453dup (p.Ala485delinsGluGluGlyLysProProGlnLeuLysProCysAsnTer)
|
rs2053936273
|
|
NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg)
|
rs80357370
|
|
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.1411del (p.Leu471fs)
|
rs2154447439
|
|
NM_007294.4(BRCA1):c.1416del (p.Asn473fs)
|
rs1555591774
|
|
NM_007294.4(BRCA1):c.141C>A (p.Cys47Ter)
|
rs398122635
|
|
NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter)
|
rs80357490
|
|
NM_007294.4(BRCA1):c.1423_1508del (p.Ser475fs)
|
rs2154442124
|
|
NM_007294.4(BRCA1):c.1426del (p.His476fs)
|
|
|
NM_007294.4(BRCA1):c.1434_1435del (p.Glu479fs)
|
rs1060505050
|
|
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.1450G>T (p.Gly484Ter)
|
rs80357304
|
|
NM_007294.4(BRCA1):c.1451del (p.Gly484fs)
|
|
|
NM_007294.4(BRCA1):c.1462dup (p.Thr488fs)
|
rs80357599
|
|
NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter)
|
rs80357167
|
|
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)
|
rs62625303
|
|
NM_007294.4(BRCA1):c.1473_1474del (p.Gln491fs)
|
|
|
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)
|
rs80357010
|
|
NM_007294.4(BRCA1):c.1480dup (p.Gln494fs)
|
rs1555591706
|
|
NM_007294.4(BRCA1):c.1483_1498del (p.Glu495fs)
|
rs397508872
|
|
NM_007294.4(BRCA1):c.1488del (p.Leu498fs)
|
rs587782251
|
|
NM_007294.4(BRCA1):c.1492dup (p.Leu498fs)
|
|
|
NM_007294.4(BRCA1):c.1497_1509del (p.Asn500fs)
|
rs886039954
|
|
NM_007294.4(BRCA1):c.1499del (p.Asn500fs)
|
rs397508874
|
|
NM_007294.4(BRCA1):c.1501A>T (p.Lys501Ter)
|
|
|
NM_007294.4(BRCA1):c.1501_1504del (p.Asn500_Lys501insTer)
|
rs80357632
|
|
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.150del (p.Lys50fs)
|
rs273897662
|
|
NM_007294.4(BRCA1):c.1510del (p.Arg504fs)
|
rs80357908
|
|
NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter)
|
rs398122636
|
|
NM_007294.4(BRCA1):c.1513A>T (p.Lys505Ter)
|
rs397508877
|
|
NM_007294.4(BRCA1):c.1521_1531del (p.Thr509fs)
|
rs1555591596
|
|
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.1534del (p.Leu512fs)
|
|
|
NM_007294.4(BRCA1):c.1544_1550del (p.Glu515fs)
|
|
|
NM_007294.4(BRCA1):c.1551_1552insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCCTGAGGATTTT (p.Ile518delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
|
|
|
NM_007294.4(BRCA1):c.1551del (p.Phe517fs)
|
rs80357630
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1561_1564delinsTAAA (p.Ala521_Asp522delinsTer)
|
rs397508883
|
|
NM_007294.4(BRCA1):c.1568T>A (p.Leu523Ter)
|
rs397508885
|
|
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter)
|
rs80356984
|
|
NM_007294.4(BRCA1):c.1576_1577del (p.Gln526fs)
|
rs1567799078
|
|
NM_007294.4(BRCA1):c.1583_1589del (p.Thr528fs)
|
rs80357613
|
|
NM_007294.4(BRCA1):c.158del (p.Asn53fs)
|
|
|
NM_007294.4(BRCA1):c.1590_1594del (p.Glu530fs)
|
|
|
NM_007294.4(BRCA1):c.1597_1606del (p.Asn533fs)
|
rs2053913899
|
|
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.1612C>T (p.Gln538Ter)
|
rs80356893
|
|
NM_007294.4(BRCA1):c.1612_1616del (p.Gln538fs)
|
rs587776480
|
|
NM_007294.4(BRCA1):c.1620_1621del (p.Gln541fs)
|
|
|
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.1637_1647del (p.Met546fs)
|
|
|
NM_007294.4(BRCA1):c.1641_1642insG (p.Ile548fs)
|
rs1597874930
|
|
NM_007294.4(BRCA1):c.1642_1643del (p.Ile548fs)
|
rs886039960
|
|
NM_007294.4(BRCA1):c.1650del (p.Asn550fs)
|
rs2053906428
|
|
NM_007294.4(BRCA1):c.1658del (p.His553fs)
|
|
|
NM_007294.4(BRCA1):c.166_169del (p.Lys56fs)
|
rs2154555258
|
|
NM_007294.4(BRCA1):c.1673_1674del (p.Lys558fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1676del (p.Gly559fs)
|
rs1555591383
|
|
NM_007294.4(BRCA1):c.1677_1678del (p.Asp560fs)
|
rs2053901700
|
|
NM_007294.4(BRCA1):c.1677del (p.Asp560fs)
|
rs2154430698
|
|
NM_007294.4(BRCA1):c.1682del (p.Ser561fs)
|
rs2154430392
|
|
NM_007294.4(BRCA1):c.1691del (p.Asn564fs)
|
rs2053899411
|
|
NM_007294.4(BRCA1):c.1693G>T (p.Glu565Ter)
|
rs886039963
|
|
NM_007294.4(BRCA1):c.1700dup (p.Asn567fs)
|
rs80357784
|
|
NM_007294.4(BRCA1):c.1706del (p.Asn569fs)
|
rs2154428923
|
|
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.1718C>G (p.Ser573Ter)
|
|
|
NM_007294.4(BRCA1):c.171del (p.Pro58fs)
|
rs80357660
|
|
NM_007294.4(BRCA1):c.171dup (p.Pro58fs)
|
rs80357660
|
|
NM_007294.4(BRCA1):c.1723G>T (p.Glu575Ter)
|
rs397508902
|
|
NM_007294.4(BRCA1):c.1728_1731del (p.Lys576fs)
|
rs2154427544
|
|
NM_007294.4(BRCA1):c.1728dup (p.Glu577fs)
|
rs397507192
|
|
NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter)
|
rs397508903
|
|
NM_007294.4(BRCA1):c.1729_1730insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCGTCGCCCTCCCCGGGCTCCGGGACGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAATCACTCGAAAAAG (p.Glu577fs)
|
|
|
NM_007294.4(BRCA1):c.1740_1741insCCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAATCTGCTTTC (p.Lys581delinsProSerTrpLeuThrArgTer)
|
rs2154427068
|
|
NM_007294.4(BRCA1):c.1744del (p.Thr582fs)
|
rs398122641
|
|
NM_007294.4(BRCA1):c.1744dup (p.Thr582fs)
|
rs398122641
|
|
NM_007294.4(BRCA1):c.1745del (p.Thr582fs)
|
rs1597874447
|
|
NM_007294.4(BRCA1):c.1747A>T (p.Lys583Ter)
|
rs80356928
|
|
NM_007294.4(BRCA1):c.1749_1755del (p.Lys583fs)
|
rs886039965
|
|
NM_007294.4(BRCA1):c.1749dup (p.Ala584fs)
|
|
|
NM_007294.4(BRCA1):c.1757del (p.Pro586fs)
|
rs80357723
|
|
NM_007294.4(BRCA1):c.1758_1759insTT (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.175dup (p.Ser59fs)
|
|
|
NM_007294.4(BRCA1):c.1760_1761del (p.Ile587fs)
|
|
|
NM_007294.4(BRCA1):c.1760del (p.Ile587fs)
|
rs2154425630
|
|
NM_007294.4(BRCA1):c.1762del (p.Ser588fs)
|
|
|
NM_007294.4(BRCA1):c.1768_1770delinsC (p.Ser590fs)
|
rs876659196
|
|
NM_007294.4(BRCA1):c.1772del (p.Ile591fs)
|
rs80357901
|
|
NM_007294.4(BRCA1):c.1785del (p.Glu595fs)
|
rs1567798263
|
|
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.1793T>A (p.Leu598Ter)
|
rs80357118
|
|
NM_007294.4(BRCA1):c.1799del (p.Ile600fs)
|
rs878854934
|
|
NM_007294.4(BRCA1):c.179del (p.Gln60fs)
|
rs80357591
|
|
NM_007294.4(BRCA1):c.1807dup (p.Ser603fs)
|
rs2154421251
|
|
NM_007294.4(BRCA1):c.1808C>G (p.Ser603Ter)
|
rs397508909
|
|
NM_007294.4(BRCA1):c.1812del (p.Ala605fs)
|
rs80357927
|
|
NM_007294.4(BRCA1):c.1817del (p.Pro606fs)
|
rs397508910
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.1823dup (p.Asn609fs)
|
rs397508911
|
|
NM_007294.4(BRCA1):c.1824_1825del (p.Lys608_Asn609insTer)
|
rs2154419366
|
|
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.1832dup (p.Arg612fs)
|
|
|
NM_007294.4(BRCA1):c.1833_1834insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAATAGGCTG (p.Arg612delinsAlaGlyArgGlyGlySerArgLeuTer)
|
rs2154418702
|
|
NM_007294.4(BRCA1):c.1836dup (p.Arg613fs)
|
rs876660523
|
|
NM_007294.4(BRCA1):c.1845_1846del (p.Ser616fs)
|
rs2053874117
|
|
NM_007294.4(BRCA1):c.1860del (p.His621fs)
|
rs730881459
|
|
NM_007294.4(BRCA1):c.1865del (p.Ala622fs)
|
|
|
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.187_188dup (p.Leu63fs)
|
rs1555597235
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
NM_007294.4(BRCA1):c.1889del (p.Asn630fs)
|
rs1597873542
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.1890del (p.Asn630_Leu631insTer)
|
|
|
NM_007294.4(BRCA1):c.1892dup (p.Ser632fs)
|
rs80357932
|
|
NM_007294.4(BRCA1):c.1895_1904del (p.Ser632fs)
|
|
|
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.1916T>A (p.Leu639Ter)
|
rs80357267
|
|
NM_007294.4(BRCA1):c.1918C>T (p.Gln640Ter)
|
rs886039981
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.191G>C (p.Cys64Ser)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1921del (p.Ile641fs)
|
rs397507194
|
|
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)
|
rs397507194
|
|
NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter)
|
rs878854935
|
|
NM_007294.4(BRCA1):c.1925_1929del (p.Asp642fs)
|
|
|
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.1930del (p.Cys644fs)
|
rs886039982
|
|
NM_007294.4(BRCA1):c.1934del (p.Ser645fs)
|
|
|
NM_007294.4(BRCA1):c.1938_1947del (p.Ser646fs)
|
rs397508920
|
|
NM_007294.4(BRCA1):c.1949dup (p.Lys652fs)
|
rs879255480
|
|
NM_007294.4(BRCA1):c.1952del (p.Lys651fs)
|
rs80357885
|
|
NM_007294.4(BRCA1):c.1952dup (p.Lys652fs)
|
rs80357885
|
|
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.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1962dup (p.Tyr655fs)
|
rs1567797549
|
|
NM_007294.4(BRCA1):c.1964del (p.Tyr655fs)
|
rs786203594
|
|
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)
|
rs397508926
|
|
NM_007294.4(BRCA1):c.1972del (p.Met658fs)
|
rs397507195
|
|
NM_007294.4(BRCA1):c.1978del (p.Val660fs)
|
rs886039988
|
|
NM_007294.4(BRCA1):c.1994del (p.Asn665fs)
|
rs1555590714
|
|
NM_007294.4(BRCA1):c.1997_1998del (p.Leu666fs)
|
rs2154404837
|
|
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.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.2022_2023dup (p.Ala675fs)
|
rs1597872648
|
|
NM_007294.4(BRCA1):c.2029G>T (p.Gly677Ter)
|
rs1597872603
|
|
NM_007294.4(BRCA1):c.202dup (p.Ile68fs)
|
rs886039990
|
|
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.2056G>T (p.Glu686Ter)
|
rs587782709
|
|
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.2063_2064del (p.Thr688fs)
|
|
|
NM_007294.4(BRCA1):c.2065_2075del (p.Thr688_Ser689insTer)
|
|
|
NM_007294.4(BRCA1):c.2066dup (p.Ser689fs)
|
rs1567797130
|
|
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2074_2075del (p.Arg691_His692insTer)
|
rs886037995
|
|
NM_007294.4(BRCA1):c.2074del (p.His692fs)
|
rs80357554
|
|
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)
|
rs397508936
|
|
NM_007294.4(BRCA1):c.2077_2078insTA (p.Asp693fs)
|
rs80357595
|
|
NM_007294.4(BRCA1):c.207dup (p.Lys70fs)
|
|
|
NM_007294.4(BRCA1):c.2090del (p.Phe697fs)
|
rs886039996
|
|
NM_007294.4(BRCA1):c.2090dup (p.Glu699fs)
|
rs886039996
|
|
NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter)
|
rs876660282
|
|
NM_007294.4(BRCA1):c.2101_2102del (p.Lys701fs)
|
rs431825389
|
|
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
|
rs80357298
|
|
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)
|
rs80357880
|
|
NM_007294.4(BRCA1):c.2109_2116del (p.Asn704fs)
|
|
|
NM_007294.4(BRCA1):c.210_211del (p.Arg71fs)
|
|
|
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)
|
rs80357814
|
|
NM_007294.4(BRCA1):c.2111_2112del (p.Asn704fs)
|
rs2053824237
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.211del (p.Arg71fs)
|
rs397508938
|
|
NM_007294.4(BRCA1):c.212+1G>A
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+1G>C
|
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.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.213-2A>G
|
rs397508940
|
|
NM_007294.4(BRCA1):c.213-2A>T
|
rs397508940
|
|
NM_007294.4(BRCA1):c.2130delinsAA (p.Cys712fs)
|
rs1060502332
|
|
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)
|
rs398122653
|
|
NM_007294.4(BRCA1):c.2136_2140del (p.Cys712_Asn714delinsTer)
|
rs2154397327
|
|
NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter)
|
rs80357233
|
|
NM_007294.4(BRCA1):c.2138_2139dup (p.Asn714fs)
|
rs886040002
|
|
NM_007294.4(BRCA1):c.2140_2144del (p.Asn714fs)
|
rs2053817949
|
|
NM_007294.4(BRCA1):c.2141del (p.Asn714fs)
|
|
|
NM_007294.4(BRCA1):c.2143_2155delinsTCTTT (p.Thr715fs)
|
rs1567796807
|
|
NM_007294.4(BRCA1):c.2145_2152del (p.Thr715_Ser716insTer)
|
rs2154396775
|
|
NM_007294.4(BRCA1):c.2146_2147del (p.Thr715_Ser716insTer)
|
|
|
NM_007294.4(BRCA1):c.2157del (p.Glu720fs)
|
rs80357715
|
|
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.2160del (p.Glu720fs)
|
rs1567796774
|
|
NM_007294.4(BRCA1):c.2162_2163del (p.Phe721fs)
|
rs1555590319
|
|
NM_007294.4(BRCA1):c.2162_2165del (p.Phe721fs)
|
rs2154395922
|
|
NM_007294.4(BRCA1):c.2163del (p.Phe721fs)
|
rs1555590319
|
|
NM_007294.4(BRCA1):c.2176_2177del (p.Leu726fs)
|
rs397508945
|
|
NM_007294.4(BRCA1):c.2182A>T (p.Arg728Ter)
|
|
|
NM_007294.4(BRCA1):c.2187del (p.Glu730fs)
|
|
|
NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter)
|
rs80357058
|
|
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)
|
rs273898681
|
|
NM_007294.4(BRCA1):c.2188dup (p.Glu730fs)
|
rs80357566
|
|
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.2194G>T (p.Glu732Ter)
|
rs80357426
|
|
NM_007294.4(BRCA1):c.2196dup (p.Glu733fs)
|
|
|
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.21_28del (p.Val8fs)
|
|
|
NM_007294.4(BRCA1):c.2206del (p.Glu736fs)
|
rs80357860
|
|
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.2215_2216insCT (p.Lys739fs)
|
rs80357930
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2217dup (p.Val740fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2219_2220insTAAT (p.Ser741fs)
|
rs2154391568
|
|
NM_007294.4(BRCA1):c.2220del (p.Ser741fs)
|
rs2154391486
|
|
NM_007294.4(BRCA1):c.2223dup (p.Asn742Ter)
|
rs886040020
|
|
NM_007294.4(BRCA1):c.2226_2227del (p.Asn742fs)
|
rs878854938
|
|
NM_007294.4(BRCA1):c.2228del (p.Asn743fs)
|
rs1555590121
|
|
NM_007294.4(BRCA1):c.2233G>T (p.Glu745Ter)
|
rs2154389241
|
|
NM_007294.4(BRCA1):c.2236dup (p.Asp746fs)
|
rs80357909
|
|
NM_007294.4(BRCA1):c.2241del (p.Asp749fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2242_2251del (p.Lys748fs)
|
rs886037997
|
|
NM_007294.4(BRCA1):c.2244dup (p.Asp749fs)
|
rs2053796291
|
|
NM_007294.4(BRCA1):c.224_227del (p.Glu75fs)
|
rs80357697
|
|
NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs)
|
rs80357602
|
|
NM_007294.4(BRCA1):c.2256_2260del (p.Ser753fs)
|
rs2053792576
|
|
NM_007294.4(BRCA1):c.2262del (p.Glu755fs)
|
rs2154386642
|
|
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)
|
rs41286296
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
NM_007294.4(BRCA1):c.2273T>A (p.Leu758Ter)
|
rs1060502334
|
|
NM_007294.4(BRCA1):c.2273dup (p.Leu758fs)
|
rs80357681
|
|
NM_007294.4(BRCA1):c.2275C>T (p.Gln759Ter)
|
rs80356999
|
|
NM_007294.4(BRCA1):c.2278del (p.Thr760fs)
|
rs2053790230
|
|
NM_007294.4(BRCA1):c.2281G>T (p.Glu761Ter)
|
|
|
NM_007294.4(BRCA1):c.2283_2284del (p.Arg762fs)
|
rs80357657
|
|
NM_007294.4(BRCA1):c.2285_2286del (p.Arg762fs)
|
rs2154385474
|
|
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.2298del (p.Ser766fs)
|
|
|
NM_007294.4(BRCA1):c.2299del (p.Ser767fs)
|
rs80357786
|
|
NM_007294.4(BRCA1):c.2305_2306del (p.Ile769fs)
|
rs2154384493
|
|
NM_007294.4(BRCA1):c.2307_2313del (p.Ile769fs)
|
rs886040022
|
|
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.2311_2317del (p.Pro773fs)
|
rs1060502354
|
|
NM_007294.4(BRCA1):c.2311_2323del (p.Val772fs)
|
rs2053780973
|
|
NM_007294.4(BRCA1):c.2312T>A (p.Leu771Ter)
|
|
|
NM_007294.4(BRCA1):c.2314del (p.Val772fs)
|
rs80357957
|
|
NM_007294.4(BRCA1):c.2329_2339del (p.Tyr777fs)
|
|
|
NM_007294.4(BRCA1):c.2329del (p.Tyr777fs)
|
rs80357725
|
|
NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter)
|
rs80357444
|
|
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)
|
rs431825390
|
|
NM_007294.4(BRCA1):c.2337_2338del (p.Gln780fs)
|
rs80357515
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2344dup (p.Ser782fs)
|
rs2053777729
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2347_2348del (p.Ile783fs)
|
rs1597870555
|
|
NM_007294.4(BRCA1):c.2350_2351del (p.Ser784fs)
|
rs397508960
|
|
NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs)
|
rs80357820
|
|
NM_007294.4(BRCA1):c.2354T>A (p.Leu785Ter)
|
rs397508961
|
|
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.2378dup (p.Ala794fs)
|
rs864622536
|
|
NM_007294.4(BRCA1):c.237del (p.Phe79fs)
|
rs886040030
|
|
NM_007294.4(BRCA1):c.2386_2387delinsT (p.Lys795_Thr796insTer)
|
rs876660305
|
|
NM_007294.4(BRCA1):c.2386del (p.Thr796fs)
|
rs398122657
|
|
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.2396del (p.Asn799fs)
|
rs886040033
|
|
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs)
|
rs786202684
|
|
NM_007294.4(BRCA1):c.2402_2404delinsCATTTCCCCTATAGCAAAAACATGACGGCACTTACTGTATCAA (p.Cys801_Val802delinsSerPheProLeuTer)
|
rs1567795809
|
|
NM_007294.4(BRCA1):c.2403T>A (p.Cys801Ter)
|
rs80357381
|
|
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
|
rs80357706
|
|
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.2412dup (p.Cys805fs)
|
|
|
NM_007294.4(BRCA1):c.2418del (p.Ala807fs)
|
rs879255281
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2429del (p.Asn810fs)
|
rs397508967
|
|
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)
|
rs397508967
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter)
|
rs80357186
|
|
NM_007294.4(BRCA1):c.2437_2450del (p.Gly813fs)
|
rs2053758543
|
|
NM_007294.4(BRCA1):c.2438_2439dup (p.Leu814fs)
|
|
|
NM_007294.4(BRCA1):c.2443del (p.Ile815fs)
|
rs80357598
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2471del (p.Asn824fs)
|
rs1567795563
|
|
NM_007294.4(BRCA1):c.2474dup (p.Asp825fs)
|
rs80357830
|
|
NM_007294.4(BRCA1):c.2477_2478del (p.Thr826fs)
|
rs80357800
|
|
NM_007294.4(BRCA1):c.2479_2480del (p.Glu827fs)
|
rs2154375290
|
|
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.2486_2487dup (p.Lys830fs)
|
|
|
NM_007294.4(BRCA1):c.2487dup (p.Lys830Ter)
|
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.2498T>A (p.Leu833Ter)
|
rs2053749811
|
|
NM_007294.4(BRCA1):c.2498dup (p.Leu833fs)
|
rs2053749959
|
|
NM_007294.4(BRCA1):c.2500G>T (p.Gly834Ter)
|
rs786202215
|
|
NM_007294.4(BRCA1):c.2504dup (p.His835fs)
|
rs1555589513
|
|
NM_007294.4(BRCA1):c.2506del (p.Glu836fs)
|
rs587780798
|
|
NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter)
|
rs398122661
|
|
NM_007294.4(BRCA1):c.2515del (p.His839fs)
|
rs80357607
|
|
NM_007294.4(BRCA1):c.2517_2518del (p.His839fs)
|
rs397508974
|
|
NM_007294.4(BRCA1):c.2518_2521del (p.Ser840fs)
|
rs2053746603
|
|
NM_007294.4(BRCA1):c.2524dup (p.Glu842fs)
|
rs886040045
|
|
NM_007294.4(BRCA1):c.2530del (p.Ser844fs)
|
|
|
NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter)
|
rs80356951
|
|
NM_007294.4(BRCA1):c.2548del (p.Ser850fs)
|
rs1555589434
|
|
NM_007294.4(BRCA1):c.2550dup (p.Glu851Ter)
|
|
|
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.2568T>G (p.Tyr856Ter)
|
rs80356832
|
|
NM_007294.4(BRCA1):c.2569_2570insA (p.Leu857fs)
|
|
|
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter)
|
rs397508983
|
|
NM_007294.4(BRCA1):c.2578del (p.Thr860fs)
|
|
|
NM_007294.4(BRCA1):c.2587del (p.Val863fs)
|
rs886040053
|
|
NM_007294.4(BRCA1):c.2589_2594delinsATTCTTTT (p.Ser864fs)
|
rs1567795017
|
|
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter)
|
rs80357003
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)
|
rs886038001
|
|
NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.260T>A (p.Leu87Ter)
|
rs886040054
|
|
NM_007294.4(BRCA1):c.260dup (p.Leu87fs)
|
|
|
NM_007294.4(BRCA1):c.2611_2612del (p.Pro871fs)
|
rs80357962
|
|
NM_007294.4(BRCA1):c.2612delinsTT (p.Pro871fs)
|
rs397508986
|
|
NM_007294.4(BRCA1):c.2617del (p.Ser873fs)
|
rs80357912
|
|
NM_007294.4(BRCA1):c.2621dup (p.Asn874fs)
|
rs587781423
|
|
NM_007294.4(BRCA1):c.2624del (p.Pro875fs)
|
rs2154368003
|
|
NM_007294.4(BRCA1):c.2630del (p.Asn877fs)
|
rs886038002
|
|
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)
|
rs80357251
|
|
NM_007294.4(BRCA1):c.2635del (p.Glu879fs)
|
rs2154367532
|
|
NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter)
|
rs397508988
|
|
NM_007294.4(BRCA1):c.2643dup (p.Cys882fs)
|
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.2652dup (p.Phe885fs)
|
rs886040059
|
|
NM_007294.4(BRCA1):c.2657_2658del (p.Ser886fs)
|
rs397508990
|
|
NM_007294.4(BRCA1):c.2677A>T (p.Lys893Ter)
|
rs80357170
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
NM_007294.4(BRCA1):c.2680_2687del (p.Lys894fs)
|
rs1555589143
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2682_2683insG (p.Gln895fs)
|
|
|
NM_007294.4(BRCA1):c.2683C>T (p.Gln895Ter)
|
rs397508997
|
|
NM_007294.4(BRCA1):c.2683_2686del (p.Gln895fs)
|
rs397508998
|
|
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2686dup (p.Ser896fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2687_2693del (p.Ser896fs)
|
rs886040062
|
|
NM_007294.4(BRCA1):c.2691_2692insSVAelement
|
|
|
NM_007294.4(BRCA1):c.2694dup (p.Val899fs)
|
rs80357549
|
|
NM_007294.4(BRCA1):c.2697del (p.Thr900fs)
|
|
|
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.2709T>A (p.Cys903Ter)
|
rs1555589094
|
|
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer)
|
rs886040065
|
|
NM_007294.4(BRCA1):c.2710G>T (p.Glu904Ter)
|
rs80357035
|
|
NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter)
|
rs397509002
|
|
NM_007294.4(BRCA1):c.2717_2718del (p.Lys906fs)
|
rs2154363046
|
|
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.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2726dup (p.Asn909fs)
|
rs80357614
|
|
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs)
|
rs80357605
|
|
NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)
|
rs397509004
|
|
NM_007294.4(BRCA1):c.2735_2738del (p.Lys912fs)
|
rs2154362073
|
|
NM_007294.4(BRCA1):c.273T>A (p.Cys91Ter)
|
rs397509006
|
|
NM_007294.4(BRCA1):c.273_274del (p.Ala92fs)
|
rs587776485
|
|
NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter)
|
rs80357419
|
|
NM_007294.4(BRCA1):c.2740_2750del (p.Glu914fs)
|
rs1567794393
|
|
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)
|
rs80357540
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
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.2773_2774del (p.Ile925fs)
|
|
|
NM_007294.4(BRCA1):c.2783del (p.Gly928fs)
|
rs1064795600
|
|
NM_007294.4(BRCA1):c.2785_2788del (p.Phe929fs)
|
|
|
NM_007294.4(BRCA1):c.2787del (p.Pro930fs)
|
rs2154359567
|
|
NM_007294.4(BRCA1):c.2794del (p.Val932fs)
|
|
|
NM_007294.4(BRCA1):c.2796_2799del (p.Gly933fs)
|
rs80357840
|
|
NM_007294.4(BRCA1):c.2799del (p.Gln934fs)
|
rs80357998
|
|
NM_007294.4(BRCA1):c.279_280delinsGAA (p.Phe93fs)
|
rs1555596663
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.2802del (p.Asp936fs)
|
rs2053694038
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.2808_2812del (p.Lys937fs)
|
|
|
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.2831_2837del (p.Cys944fs)
|
rs2154356972
|
|
NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter)
|
rs80357458
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
NM_007294.4(BRCA1):c.2835_2836insCC (p.Ile946fs)
|
rs1597867385
|
|
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs)
|
rs80357519
|
|
NM_007294.4(BRCA1):c.283_286del (p.Leu95fs)
|
rs1567811070
|
|
NM_007294.4(BRCA1):c.2840_2841del (p.Lys947fs)
|
rs80357984
|
|
NM_007294.4(BRCA1):c.2844_2845del (p.Gly949fs)
|
|
|
NM_007294.4(BRCA1):c.2853_2854insA (p.Phe952fs)
|
|
|
NM_007294.4(BRCA1):c.2856_2857del (p.Phe952fs)
|
rs397509019
|
|
NM_007294.4(BRCA1):c.2857dup (p.Cys953fs)
|
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)
|
rs80357295
|
|
NM_007294.4(BRCA1):c.2864_2865insT (p.Ser956fs)
|
rs397507205
|
|
NM_007294.4(BRCA1):c.2865del (p.Ser956fs)
|
rs1597867163
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007294.4(BRCA1):c.2868del (p.Gln957fs)
|
rs80357929
|
|
NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter)
|
rs80356973
|
|
NM_007294.4(BRCA1):c.2872_2876del (p.Phe958fs)
|
rs397509021
|
|
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.2890G>T (p.Gly964Ter)
|
rs879254027
|
|
NM_007294.4(BRCA1):c.2896_2897del (p.Ile966fs)
|
rs1567793812
|
|
NM_007294.4(BRCA1):c.2899dup (p.Thr967fs)
|
rs2154353615
|
|
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs)
|
rs398122670
|
|
NM_007294.4(BRCA1):c.2905_2912del (p.Asn969fs)
|
|
|
NM_007294.4(BRCA1):c.2907_2910del (p.Lys970fs)
|
|
|
NM_007294.4(BRCA1):c.290_291del (p.Thr97fs)
|
rs80357738
|
|
NM_007294.4(BRCA1):c.2910dup (p.His971fs)
|
rs80357893
|
|
NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)
|
rs878854940
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
NM_007294.4(BRCA1):c.2921del (p.Leu974fs)
|
rs80357611
|
|
NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter)
|
rs80357497
|
|
NM_007294.4(BRCA1):c.292_293insT (p.Gly98fs)
|
rs2154551556
|
|
NM_007294.4(BRCA1):c.2930del (p.Pro977fs)
|
|
|
NM_007294.4(BRCA1):c.2933_2934del (p.Tyr978fs)
|
|
|
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter)
|
rs878853292
|
|
NM_007294.4(BRCA1):c.2934T>A (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2934del (p.Arg979fs)
|
rs80357741
|
|
NM_007294.4(BRCA1):c.2936del (p.Arg979fs)
|
rs2154351661
|
|
NM_007294.4(BRCA1):c.2940del (p.Pro981fs)
|
rs80357876
|
|
NM_007294.4(BRCA1):c.2943del (p.Pro982fs)
|
|
|
NM_007294.4(BRCA1):c.2945del (p.Pro982fs)
|
rs730881461
|
|
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.2964_2967del (p.Phe989fs)
|
|
|
NM_007294.4(BRCA1):c.296del (p.Leu99fs)
|
|
|
NM_007294.4(BRCA1):c.2970del (p.Thr992fs)
|
rs886040089
|
|
NM_007294.4(BRCA1):c.2974del (p.Thr992fs)
|
rs2053663370
|
|
NM_007294.4(BRCA1):c.2977A>T (p.Lys993Ter)
|
|
|
NM_007294.4(BRCA1):c.2979del (p.Lys993fs)
|
|
|
NM_007294.4(BRCA1):c.2982_2983insGGTCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACTAAATGT (p.Lys995delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnXaaXaaXaaXaaLysLysLysLysLysLysLysAsnTer)
|
|
|
NM_007294.4(BRCA1):c.2982dup (p.Lys995Ter)
|
|
|
NM_007294.4(BRCA1):c.2984del (p.Lys995fs)
|
rs1597866339
|
|
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.2T>G (p.Met1Arg)
|
rs80357111
|
|
NM_007294.4(BRCA1):c.3000_3075dup (p.Ile1026delinsGlyLysLeuTer)
|
|
|
NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter)
|
rs886038007
|
|
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.3011_3012del (p.Glu1004fs)
|
rs2053656452
|
|
NM_007294.4(BRCA1):c.3013G>T (p.Glu1005Ter)
|
|
|
NM_007294.4(BRCA1):c.3013del (p.Glu1005fs)
|
rs80357937
|
|
NM_007294.4(BRCA1):c.3015dup (p.His1006fs)
|
rs886038008
|
|
NM_007294.4(BRCA1):c.3016del (p.His1006fs)
|
rs2154347100
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.302-1G>A
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1G>C
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-2A>C
|
rs80358011
|
|
NM_007294.4(BRCA1):c.3020C>A (p.Ser1007Ter)
|
rs80357168
|
|
NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter)
|
rs80357168
|
|
NM_007294.4(BRCA1):c.3021_3058del (p.Met1008fs)
|
|
|
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)
|
rs80357510
|
|
NM_007294.4(BRCA1):c.3031G>T (p.Glu1011Ter)
|
rs876659974
|
|
NM_007294.4(BRCA1):c.3033_3034del (p.Glu1013fs)
|
rs1567793163
|
|
NM_007294.4(BRCA1):c.3037G>T (p.Glu1013Ter)
|
rs1555588500
|
|
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.3054del (p.Asn1018fs)
|
|
|
NM_007294.4(BRCA1):c.305del (p.Ala102fs)
|
rs2054641544
|
|
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.30del (p.Val11fs)
|
|
|
NM_007294.4(BRCA1):c.3103_3104del (p.Val1035fs)
|
rs1555588392
|
|
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.3117del (p.Ser1040fs)
|
rs1555588361
|
|
NM_007294.4(BRCA1):c.3122C>G (p.Ser1041Ter)
|
rs397509035
|
|
NM_007294.4(BRCA1):c.3135_3136insAACTACTG (p.Glu1046fs)
|
rs2154340752
|
|
NM_007294.4(BRCA1):c.3135_3138del (p.Asn1045fs)
|
rs1567792767
|
|
NM_007294.4(BRCA1):c.3136G>T (p.Glu1046Ter)
|
rs1555588329
|
|
NM_007294.4(BRCA1):c.3155del (p.Asn1052fs)
|
rs397509040
|
|
NM_007294.4(BRCA1):c.3157G>T (p.Glu1053Ter)
|
rs786203587
|
|
NM_007294.4(BRCA1):c.3157del (p.Glu1053fs)
|
rs397509041
|
|
NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs)
|
rs397509042
|
|
NM_007294.4(BRCA1):c.3161_3164dup (p.Ser1056fs)
|
rs1567792675
|
|
NM_007294.4(BRCA1):c.3169_3172del (p.Ser1057fs)
|
rs397509045
|
|
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.317del (p.Asn106fs)
|
rs80357950
|
|
NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer)
|
rs80357702
|
|
NM_007294.4(BRCA1):c.3186_3187del (p.Ser1063fs)
|
|
|
NM_007294.4(BRCA1):c.3190del (p.Ser1064fs)
|
|
|
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)
|
rs80357511
|
|
NM_007294.4(BRCA1):c.3205C>T (p.Gln1069Ter)
|
rs2053627043
|
|
NM_007294.4(BRCA1):c.3205del (p.Gln1069fs)
|
rs886040103
|
|
NM_007294.4(BRCA1):c.3211G>T (p.Glu1071Ter)
|
rs41293445
|
|
NM_007294.4(BRCA1):c.321del (p.Phe107fs)
|
rs80357544
|
|
NM_007294.4(BRCA1):c.323del (p.Ala108fs)
|
rs1597897136
|
|
NM_007294.4(BRCA1):c.328A>T (p.Lys110Ter)
|
rs878854946
|
|
NM_007294.4(BRCA1):c.329del (p.Lys110fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.32_35del (p.Val11fs)
|
|
|
NM_007294.4(BRCA1):c.342del (p.Pro115fs)
|
rs886040129
|
|
NM_007294.4(BRCA1):c.344del (p.Pro115fs)
|
|
|
NM_007294.4(BRCA1):c.346del (p.Glu116fs)
|
rs762635795
|
|
NM_007294.4(BRCA1):c.361dup (p.Glu121fs)
|
rs886040152
|
|
NM_007294.4(BRCA1):c.367del (p.Ser123fs)
|
|
|
NM_007294.4(BRCA1):c.367dup (p.Ser123fs)
|
|
|
NM_007294.4(BRCA1):c.374dup (p.Gln126fs)
|
rs1555596392
|
|
NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)
|
rs1085307902
|
|
NM_007294.4(BRCA1):c.37_40del (p.Asn13fs)
|
rs80357530
|
|
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.391del (p.Arg131fs)
|
|
|
NM_007294.4(BRCA1):c.397del (p.Arg133fs)
|
rs886037973
|
|
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)
|
rs879255485
|
|
NM_007294.4(BRCA1):c.406del (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.406dup (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.4097-1G>A
|
rs80358070
|
|
NM_007294.4(BRCA1):c.40del (p.Val14fs)
|
rs886040201
|
|
NM_007294.4(BRCA1):c.4110_4111del (p.Gly1371fs)
|
rs80357529
|
|
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.4116dup (p.Glu1373Ter)
|
|
|
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.4122_4123del (p.Ser1374fs)
|
rs80357691
|
|
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.4146_4155dup (p.Ser1386fs)
|
rs483353079
|
|
NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)
|
rs80357071
|
|
NM_007294.4(BRCA1):c.414dup (p.Gln139fs)
|
|
|
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.4161_4162del (p.Gln1388fs)
|
rs80357565
|
|
NM_007294.4(BRCA1):c.4161_4162dup (p.Gln1388fs)
|
rs80357565
|
|
NM_007294.4(BRCA1):c.4161_4164del (p.Gln1388fs)
|
rs1597858204
|
|
NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter)
|
rs876660601
|
|
NM_007294.4(BRCA1):c.4163dup (p.Ser1389fs)
|
rs80357788
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.4165del (p.Ser1389fs)
|
rs1567788282
|
|
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_4183del (p.Gln1395fs)
|
rs80357742
|
|
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+2T>G
|
|
|
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.4186C>T (p.Gln1396Ter)
|
rs80357011
|
|
NM_007294.4(BRCA1):c.4194_4267del (p.Asp1398fs)
|
rs1597848148
|
|
NM_007294.4(BRCA1):c.4195del (p.Thr1399fs)
|
rs1567783654
|
|
NM_007294.4(BRCA1):c.4196_4197delinsT (p.Thr1399fs)
|
rs886040213
|
|
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)
|
rs397509151
|
|
NM_007294.4(BRCA1):c.4202_4203del (p.Gln1401fs)
|
|
|
NM_007294.4(BRCA1):c.4203del (p.Gln1401fs)
|
|
|
NM_007294.4(BRCA1):c.4205del (p.His1402fs)
|
rs886040214
|
|
NM_007294.4(BRCA1):c.4214dup (p.Leu1407fs)
|
rs1597848491
|
|
NM_007294.4(BRCA1):c.4217dup (p.Leu1407fs)
|
rs2154159696
|
|
NM_007294.4(BRCA1):c.4218del (p.Lys1406fs)
|
rs886040217
|
|
NM_007294.4(BRCA1):c.421G>T (p.Glu141Ter)
|
|
|
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)
|
rs886040218
|
|
NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter)
|
rs397509153
|
|
NM_007294.4(BRCA1):c.4240dup (p.Leu1414fs)
|
rs397509154
|
|
NM_007294.4(BRCA1):c.4242dup (p.Glu1415fs)
|
|
|
NM_007294.4(BRCA1):c.4250del (p.Val1417fs)
|
rs587782879
|
|
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs)
|
rs80357977
|
|
NM_007294.4(BRCA1):c.4253dup (p.Leu1418fs)
|
|
|
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter)
|
rs80357305
|
|
NM_007294.4(BRCA1):c.4258del (p.Gln1420fs)
|
|
|
NM_007294.4(BRCA1):c.4266del (p.Ser1423fs)
|
rs397509158
|
|
NM_007294.4(BRCA1):c.4266dup (p.Ser1423fs)
|
rs397509158
|
|
NM_007294.4(BRCA1):c.426del (p.Glu143fs)
|
|
|
NM_007294.4(BRCA1):c.4270C>T (p.Gln1424Ter)
|
rs886040220
|
|
NM_007294.4(BRCA1):c.4271_4295del (p.Gln1424fs)
|
rs2053050323
|
|
NM_007294.4(BRCA1):c.4276del (p.Ser1426fs)
|
rs2053054217
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4282del (p.Ser1428fs)
|
rs1555584125
|
|
NM_007294.4(BRCA1):c.4297del (p.Ile1432_Ile1433insTer)
|
rs2154151012
|
|
NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs)
|
rs80357790
|
|
NM_007294.4(BRCA1):c.4301del (p.Ser1434fs)
|
|
|
NM_007294.4(BRCA1):c.4309dup (p.Ser1437fs)
|
|
|
NM_007294.4(BRCA1):c.431del (p.Asn144fs)
|
rs397509162
|
|
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.4339C>T (p.Gln1447Ter)
|
rs80357067
|
|
NM_007294.4(BRCA1):c.4348dup (p.Ser1450fs)
|
rs80357548
|
|
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>A
|
rs80358152
|
|
NM_007294.4(BRCA1):c.4357+2T>C
|
rs80358152
|
|
NM_007294.4(BRCA1):c.4357+2T>G
|
rs80358152
|
|
NM_007294.4(BRCA1):c.4358-31A>G
|
|
|
NM_007294.4(BRCA1):c.4370C>A (p.Ser1457Ter)
|
rs80357130
|
|
NM_007294.4(BRCA1):c.4370C>G (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.4386del (p.Glu1462fs)
|
|
|
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.4396dup (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter)
|
rs397509171
|
|
NM_007294.4(BRCA1):c.4401del (p.Asn1468fs)
|
rs587781611
|
|
NM_007294.4(BRCA1):c.4406del (p.Pro1469fs)
|
|
|
NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter)
|
rs886040230
|
|
NM_007294.4(BRCA1):c.441+1G>A
|
rs397509172
|
|
NM_007294.4(BRCA1):c.441+2T>A
|
rs397509173
|
|
NM_007294.4(BRCA1):c.441+2T>C
|
rs397509173
|
|
NM_007294.4(BRCA1):c.4410dup (p.Gly1471fs)
|
rs1597839379
|
|
NM_007294.4(BRCA1):c.4412del (p.Gly1471fs)
|
rs1064793951
|
|
NM_007294.4(BRCA1):c.4414del (p.Leu1472fs)
|
rs1567779686
|
|
NM_007294.4(BRCA1):c.4417del (p.Ser1473fs)
|
rs886040231
|
|
NM_007294.4(BRCA1):c.442-22_442-13del
|
rs879254224
|
|
NM_007294.4(BRCA1):c.4447_4450dup (p.Ser1484Ter)
|
rs2154062615
|
|
NM_007294.4(BRCA1):c.445del (p.Glu149fs)
|
rs1060502327
|
|
NM_007294.4(BRCA1):c.4463_4467dup (p.Glu1490fs)
|
rs2154059426
|
|
NM_007294.4(BRCA1):c.4467_4470del (p.Lys1489fs)
|
|
|
NM_007294.4(BRCA1):c.4467del (p.Glu1490fs)
|
rs2154059325
|
|
NM_007294.4(BRCA1):c.4467dup (p.Glu1490fs)
|
|
|
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)
|
rs138608489
|
|
NM_007294.4(BRCA1):c.4474G>T (p.Gly1492Ter)
|
rs863224511
|
|
NM_007294.4(BRCA1):c.4475_4476insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGAACCAGG (p.Gly1492_Val1493insAlaGlyArgGlyGlySerArgLeuTer)
|
rs2154058114
|
|
NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter)
|
rs80357148
|
|
NM_007294.4(BRCA1):c.4483del (p.Arg1495fs)
|
rs80357854
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484+1G>T
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484+3A>C
|
rs1597838973
|
|
NM_007294.4(BRCA1):c.4484+5G>C
|
rs886040910
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>C (p.Arg1495Thr)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4485-1G>C
|
rs80358189
|
|
NM_007294.4(BRCA1):c.4485-1G>T
|
rs80358189
|
|
NM_007294.4(BRCA1):c.4485-2A>G
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter)
|
rs80356953
|
|
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)
|
rs398122687
|
|
NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)
|
rs747539984
|
|
NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter)
|
rs80357437
|
|
NM_007294.4(BRCA1):c.450del (p.Ser151fs)
|
|
|
NM_007294.4(BRCA1):c.4513del (p.Asp1505fs)
|
rs2154021907
|
|
NM_007294.4(BRCA1):c.4515del (p.Asp1505fs)
|
rs2154021596
|
|
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.4524del (p.Trp1508fs)
|
|
|
NM_007294.4(BRCA1):c.4525dup (p.Tyr1509fs)
|
|
|
NM_007294.4(BRCA1):c.4527C>A (p.Tyr1509Ter)
|
rs886040233
|
|
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs)
|
rs80357534
|
|
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)
|
rs1567778176
|
|
NM_007294.4(BRCA1):c.4538dup (p.Cys1513fs)
|
|
|
NM_007294.4(BRCA1):c.4539C>A (p.Cys1513Ter)
|
rs2052610048
|
|
NM_007294.4(BRCA1):c.4544_4545dup (p.Ser1516fs)
|
rs2154015072
|
|
NM_007294.4(BRCA1):c.4552C>T (p.Gln1518Ter)
|
rs80356881
|
|
NM_007294.4(BRCA1):c.4566C>A (p.Tyr1522Ter)
|
rs886040234
|
|
NM_007294.4(BRCA1):c.456_457del (p.Ser153fs)
|
rs80357882
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.4575_4585del (p.Gln1525fs)
|
rs397509184
|
|
NM_007294.4(BRCA1):c.4576G>T (p.Glu1526Ter)
|
rs878853294
|
|
NM_007294.4(BRCA1):c.457_458del (p.Ser153fs)
|
rs397509185
|
|
NM_007294.4(BRCA1):c.4583_4589dup (p.Lys1530delinsAsnHisTer)
|
rs2154006279
|
|
NM_007294.4(BRCA1):c.4588A>T (p.Lys1530Ter)
|
rs764016240
|
|
NM_007294.4(BRCA1):c.4599del (p.Asp1533fs)
|
|
|
NM_007294.4(BRCA1):c.45del (p.Asn16fs)
|
rs730881457
|
|
NM_007294.4(BRCA1):c.45dup (p.Asn16Ter)
|
rs730881457
|
|
NM_007294.4(BRCA1):c.4606G>T (p.Glu1536Ter)
|
rs876660460
|
|
NM_007294.4(BRCA1):c.4607del (p.Glu1536fs)
|
|
|
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)
|
rs80357229
|
|
NM_007294.4(BRCA1):c.4609_4610insCC (p.Gln1537fs)
|
rs886038035
|
|
NM_007294.4(BRCA1):c.460_467del (p.Val154fs)
|
rs1060502362
|
|
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.4618_4621delinsAAA (p.Glu1540fs)
|
rs886040240
|
|
NM_007294.4(BRCA1):c.4621del (p.Glu1541fs)
|
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.4631del (p.Pro1544fs)
|
rs2153996908
|
|
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)
|
rs80357180
|
|
NM_007294.4(BRCA1):c.4654_4655insC (p.Tyr1552fs)
|
rs1555581824
|
|
NM_007294.4(BRCA1):c.4654_4655insG (p.Tyr1552Ter)
|
rs1555581824
|
|
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.4656C>A (p.Tyr1552Ter)
|
|
|
NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter)
|
rs80357151
|
|
NM_007294.4(BRCA1):c.4658del (p.Leu1553fs)
|
rs2052588740
|
|
NM_007294.4(BRCA1):c.4659_4671del (p.Leu1553fs)
|
|
|
NM_007294.4(BRCA1):c.465del (p.Gln155fs)
|
rs1555594954
|
|
NM_007294.4(BRCA1):c.4663del (p.Arg1555fs)
|
rs2052588365
|
|
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter)
|
rs1555581812
|
|
NM_007294.4(BRCA1):c.4669del (p.Asp1557fs)
|
rs2153987675
|
|
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>C
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+1G>T
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+2T>C
|
rs879255293
|
|
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>A
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter)
|
rs80357349
|
|
NM_007294.4(BRCA1):c.4679del (p.Gly1560fs)
|
|
|
NM_007294.4(BRCA1):c.4688dup (p.Tyr1563Ter)
|
rs886040243
|
|
NM_007294.4(BRCA1):c.4699_4700dup (p.Ile1568fs)
|
rs1597831850
|
|
NM_007294.4(BRCA1):c.469_470insAT (p.Ser157fs)
|
rs1555594935
|
|
NM_007294.4(BRCA1):c.4709dup (p.Phe1571fs)
|
rs864622132
|
|
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.4712_4716del (p.Leu1570_Phe1571insTer)
|
rs80357718
|
|
NM_007294.4(BRCA1):c.4712del (p.Phe1571fs)
|
rs886037790
|
|
NM_007294.4(BRCA1):c.4715_4716del (p.Phe1571_Ser1572insTer)
|
rs2153889881
|
|
NM_007294.4(BRCA1):c.4717del (p.Asp1573fs)
|
rs2052422166
|
|
NM_007294.4(BRCA1):c.4724del (p.Pro1575fs)
|
rs397509191
|
|
NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs)
|
rs1555581017
|
|
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs)
|
rs80357907
|
|
NM_007294.4(BRCA1):c.4749_4750del (p.Arg1583fs)
|
rs80357641
|
|
NM_007294.4(BRCA1):c.4750del (p.Ala1584fs)
|
rs2052416215
|
|
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)
|
rs80357837
|
|
NM_007294.4(BRCA1):c.4754dup (p.Glu1586fs)
|
rs1597831578
|
|
NM_007294.4(BRCA1):c.4756G>T (p.Glu1586Ter)
|
rs2052414656
|
|
NM_007294.4(BRCA1):c.475_482dup (p.Val162fs)
|
|
|
NM_007294.4(BRCA1):c.4768del (p.Val1590fs)
|
rs2153864590
|
|
NM_007294.4(BRCA1):c.4782del (p.Ser1595fs)
|
rs1597831440
|
|
NM_007294.4(BRCA1):c.4787C>A (p.Ser1596Ter)
|
rs80357429
|
|
NM_007294.4(BRCA1):c.4799del (p.Ala1599_Leu1600insTer)
|
rs587782392
|
|
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.4806_4807insTATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTT (p.Pro1603delinsTyrCysGlyIleIleHisAsnSerLysAspLeuGluProThrGlnMetSerAsnAsnAspArgLeuAspTer)
|
|
|
NM_007294.4(BRCA1):c.4806del (p.Gln1604fs)
|
rs886038036
|
|
NM_007294.4(BRCA1):c.4810C>T (p.Gln1604Ter)
|
rs80357352
|
|
NM_007294.4(BRCA1):c.4810del (p.Gln1604fs)
|
rs1555580900
|
|
NM_007294.4(BRCA1):c.4814_4815insTATT (p.Leu1605fs)
|
rs2052403348
|
|
NM_007294.4(BRCA1):c.4822dup (p.Ala1608fs)
|
rs1135401933
|
|
NM_007294.4(BRCA1):c.4828dup (p.Ser1610fs)
|
rs1555580854
|
|
NM_007294.4(BRCA1):c.4829_4830del (p.Ser1610fs)
|
|
|
NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter)
|
rs786202064
|
|
NM_007294.4(BRCA1):c.4834del (p.Gln1612fs)
|
rs886040249
|
|
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.4862_4863insG (p.Asp1621fs)
|
rs2153829891
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4872del (p.Tyr1625fs)
|
rs2153828150
|
|
NM_007294.4(BRCA1):c.4873_4876dup (p.Asn1626delinsIleTer)
|
|
|
NM_007294.4(BRCA1):c.4875T>G (p.Tyr1625Ter)
|
|
|
NM_007294.4(BRCA1):c.4877del (p.Asn1626fs)
|
rs886040252
|
|
NM_007294.4(BRCA1):c.4878del (p.Asn1626fs)
|
rs2153826963
|
|
NM_007294.4(BRCA1):c.4885dup (p.Glu1629fs)
|
rs886040254
|
|
NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)
|
rs1173155015
|
|
NM_007294.4(BRCA1):c.4891dup (p.Ser1631fs)
|
rs80357656
|
|
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter)
|
rs200432771
|
|
NM_007294.4(BRCA1):c.4903dup (p.Glu1635fs)
|
rs1555580697
|
|
NM_007294.4(BRCA1):c.490del (p.Thr164fs)
|
rs863224512
|
|
NM_007294.4(BRCA1):c.4916del (p.Glu1638_Leu1639insTer)
|
|
|
NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter)
|
rs397509205
|
|
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)
|
rs80357833
|
|
NM_007294.4(BRCA1):c.4933del (p.Arg1645fs)
|
rs80357833
|
|
NM_007294.4(BRCA1):c.4936del (p.Val1646fs)
|
rs80357653
|
|
NM_007294.4(BRCA1):c.4941del (p.Asn1647fs)
|
rs80357905
|
|
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.4947_4948insT (p.Met1650fs)
|
rs2153811844
|
|
NM_007294.4(BRCA1):c.4948_4951del (p.Met1650fs)
|
|
|
NM_007294.4(BRCA1):c.494dup (p.Arg166fs)
|
rs80357762
|
|
NM_007294.4(BRCA1):c.4958_4959del (p.Val1653fs)
|
|
|
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.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)
|
rs879255295
|
|
NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter)
|
rs80357401
|
|
NM_007294.4(BRCA1):c.4986+1G>A
|
rs80358162
|
|
NM_007294.4(BRCA1):c.4986+1G>T
|
rs80358162
|
|
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+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
NM_007294.4(BRCA1):c.4987-1352A>G
|
rs2153749819
|
|
NM_007294.4(BRCA1):c.4987-1G>A
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-1G>C
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4987-2A>C
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-2A>G
|
rs397509212
|
|
NM_007294.4(BRCA1):c.4987-5T>A
|
rs397509214
|
|
NM_007294.4(BRCA1):c.4996_4997dup (p.Lys1667fs)
|
rs1555579782
|
|
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.500_503del (p.Thr167fs)
|
rs1597887869
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5019del (p.His1673fs)
|
rs886040260
|
|
NM_007294.4(BRCA1):c.5021dup (p.Thr1675fs)
|
rs1555579721
|
|
NM_007294.4(BRCA1):c.5026_5027del (p.Leu1676fs)
|
rs397509217
|
|
NM_007294.4(BRCA1):c.5027_5028insCTTTTTCTTTTTTTTCTTTTNNNNNNNNNNGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCACCACATCACTTT (p.Leu1676delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleSerTer)
|
rs2153707696
|
|
NM_007294.4(BRCA1):c.502_506del (p.Lys168fs)
|
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5030_5033dup (p.Asn1678_Leu1679insTer)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)
|
rs80357623
|
|
NM_007294.4(BRCA1):c.5035_5042del (p.Asn1678_Leu1679insTer)
|
|
|
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)
|
rs80357896
|
|
NM_007294.4(BRCA1):c.5036_5037del (p.Leu1679fs)
|
|
|
NM_007294.4(BRCA1):c.5042del (p.Thr1681fs)
|
rs886040265
|
|
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
|
rs879255283
|
|
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala)
|
rs80356890
|
|
NM_007294.4(BRCA1):c.5056dup (p.His1686fs)
|
rs80357974
|
|
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)
|
rs730882166
|
|
NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln)
|
rs397509218
|
|
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)
|
rs80358344
|
|
NM_007294.4(BRCA1):c.5059del (p.Val1687fs)
|
rs1555579633
|
|
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)
|
rs80357133
|
|
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.5071dup (p.Thr1691fs)
|
rs80357672
|
|
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>T
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>A
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-1G>C
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-1G>T
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-2A>G
|
rs80358066
|
|
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)
|
rs80356896
|
|
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs)
|
rs80357760
|
|
NM_007294.4(BRCA1):c.5084_5087del (p.Phe1695fs)
|
|
|
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.5091_5092del (p.Cys1697_Glu1698delinsTer)
|
rs80357710
|
|
NM_007294.4(BRCA1):c.5091del (p.Cys1697fs)
|
rs1135401882
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)
|
rs80357608
|
|
NM_007294.4(BRCA1):c.5102del (p.Leu1701fs)
|
rs1555578613
|
|
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.5114T>C (p.Leu1705Pro)
|
rs397507242
|
|
NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg)
|
rs886040864
|
|
NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg)
|
rs886040864
|
|
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5127_5137del (p.Gly1710fs)
|
|
|
NM_007294.4(BRCA1):c.5129del (p.Gly1710fs)
|
rs1135401829
|
|
NM_007294.4(BRCA1):c.512dup (p.Gln172fs)
|
rs587781487
|
|
NM_007294.4(BRCA1):c.5130_5131insG (p.Lys1711fs)
|
|
|
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.513dup (p.Gln172fs)
|
rs1597887797
|
|
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)
|
rs80357243
|
|
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg)
|
rs80357222
|
|
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)
|
rs45444999
|
|
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)
|
rs80357094
|
|
NM_007294.4(BRCA1):c.5145del (p.Tyr1716fs)
|
rs80357870
|
|
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)
|
rs80356947
|
|
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+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>A
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-1G>T
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-2A>G
|
rs786202545
|
|
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.5155_5158dup (p.Thr1720fs)
|
rs1555578402
|
|
NM_007294.4(BRCA1):c.5155_5159delinsAAA (p.Val1719fs)
|
rs1555578398
|
|
NM_007294.4(BRCA1):c.5155dup
|
rs80357743
|
|
NM_007294.4(BRCA1):c.5156del (p.Val1719fs)
|
rs1057517590
|
|
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)
|
rs878854957
|
|
NM_007294.4(BRCA1):c.5162del (p.Gln1721fs)
|
rs397509233
|
|
NM_007294.4(BRCA1):c.5173G>T (p.Glu1725Ter)
|
rs80357291
|
|
NM_007294.4(BRCA1):c.5176A>T (p.Arg1726Ter)
|
rs80357501
|
|
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.5182dup (p.Met1728fs)
|
rs34570933
|
|
NM_007294.4(BRCA1):c.5186_5187insCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATGCT (p.Asn1730fs)
|
rs2153556225
|
|
NM_007294.4(BRCA1):c.5186del (p.Leu1729fs)
|
rs398122692
|
|
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.5194-12G>A
|
rs80358079
|
|
NM_007294.4(BRCA1):c.5194-1_5197delinsTATT
|
rs1555576990
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5202del (p.Phe1734fs)
|
rs876659867
|
|
NM_007294.4(BRCA1):c.5202dup (p.Glu1735Ter)
|
rs876659867
|
|
NM_007294.4(BRCA1):c.5203del (p.Glu1735fs)
|
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.520C>T (p.Gln174Ter)
|
rs1567806048
|
|
NM_007294.4(BRCA1):c.520del (p.Gln174fs)
|
rs80357639
|
|
NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)
|
rs80358347
|
|
NM_007294.4(BRCA1):c.5211_5212del (p.Gly1738fs)
|
rs1555576959
|
|
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.5213G>T (p.Gly1738Val)
|
rs80357450
|
|
NM_007294.4(BRCA1):c.5216del (p.Asp1739fs)
|
rs2051521489
|
|
NM_007294.4(BRCA1):c.5227G>T (p.Gly1743Ter)
|
rs2051517323
|
|
NM_007294.4(BRCA1):c.5229_5230del (p.Arg1744fs)
|
rs80357852
|
|
NM_007294.4(BRCA1):c.5230del (p.Arg1744fs)
|
rs397509240
|
|
NM_007294.4(BRCA1):c.5231del (p.Arg1744fs)
|
rs397509241
|
|
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs)
|
rs483353071
|
|
NM_007294.4(BRCA1):c.5236_5251del (p.His1746fs)
|
rs2051505994
|
|
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter)
|
rs80357367
|
|
NM_007294.4(BRCA1):c.5239del (p.Gln1747fs)
|
rs886040282
|
|
NM_007294.4(BRCA1):c.5241del (p.Gly1748fs)
|
rs80357791
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5244dup (p.Pro1749fs)
|
|
|
NM_007294.4(BRCA1):c.5248A>T (p.Lys1750Ter)
|
rs2051507325
|
|
NM_007294.4(BRCA1):c.5250del (p.Lys1750fs)
|
rs1555576868
|
|
NM_007294.4(BRCA1):c.5259A>C (p.Arg1753Ser)
|
rs771577266
|
|
NM_007294.4(BRCA1):c.5259del (p.Glu1754fs)
|
rs80357925
|
|
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.5271_5272del (p.Asp1757fs)
|
rs2153358441
|
|
NM_007294.4(BRCA1):c.5273del (p.Arg1758fs)
|
rs2153357308
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+1G>T
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+1_5277+6del
|
rs1060502356
|
|
NM_007294.4(BRCA1):c.5277+1del
|
rs273901754
|
|
NM_007294.4(BRCA1):c.5277+2T>G
|
rs2051494815
|
|
NM_007294.4(BRCA1):c.5278-1G>A
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5278-1G>T
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5278-2A>C
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-2A>G
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-2del
|
rs878853285
|
|
NM_007294.4(BRCA1):c.5284del (p.Arg1762fs)
|
rs80357684
|
|
NM_007294.4(BRCA1):c.5289del (p.Gly1763_Leu1764insTer)
|
rs80357886
|
|
NM_007294.4(BRCA1):c.5289dup (p.Leu1764fs)
|
rs80357886
|
|
NM_007294.4(BRCA1):c.5290del (p.Gly1763_Leu1764insTer)
|
rs2051210433
|
|
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)
|
rs80357281
|
|
NM_007294.4(BRCA1):c.5292_5293insCT (p.Glu1765fs)
|
|
|
NM_007294.4(BRCA1):c.529del (p.Ser177fs)
|
rs80357758
|
|
NM_007294.4(BRCA1):c.52dup (p.Met18fs)
|
rs2055727310
|
|
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs)
|
rs886040289
|
|
NM_007294.4(BRCA1):c.5307T>A (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.5319dup (p.Asn1774fs)
|
rs80357823
|
|
NM_007294.4(BRCA1):c.531dup (p.Val178fs)
|
rs864622350
|
|
NM_007294.4(BRCA1):c.5320_5321del (p.Asn1774fs)
|
rs80357818
|
|
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.5328del (p.Thr1777fs)
|
rs80357751
|
|
NM_007294.4(BRCA1):c.5328dup (p.Thr1777fs)
|
rs80357751
|
|
NM_007294.4(BRCA1):c.532_533dup (p.Tyr179fs)
|
|
|
NM_007294.4(BRCA1):c.5332+1G>A
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+1G>C
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+1G>T
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+2T>A
|
rs80358182
|
|
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>G
|
rs397509264
|
|
NM_007294.4(BRCA1):c.5333-3T>G
|
rs397509265
|
|
NM_007294.4(BRCA1):c.5335C>T (p.Gln1779Ter)
|
rs397509267
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
NM_007294.4(BRCA1):c.5338del (p.Leu1780fs)
|
rs886038045
|
|
NM_007294.4(BRCA1):c.5341G>T (p.Glu1781Ter)
|
rs397509268
|
|
NM_007294.4(BRCA1):c.5341del (p.Glu1781fs)
|
rs80357694
|
|
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.5352dup (p.Gln1785fs)
|
rs80357744
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)
|
rs786203663
|
|
NM_007294.4(BRCA1):c.5360_5361delinsAG (p.Cys1787Ter)
|
rs397509270
|
|
NM_007294.4(BRCA1):c.5361_5362del (p.Cys1787fs)
|
rs886040294
|
|
NM_007294.4(BRCA1):c.5365_5366delinsA (p.Ala1789fs)
|
rs1555575142
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
NM_007294.4(BRCA1):c.5368dup (p.Ser1790fs)
|
|
|
NM_007294.4(BRCA1):c.536_547+165del
|
rs1555594718
|
|
NM_007294.4(BRCA1):c.536_547+166delinsT
|
rs2054281859
|
|
NM_007294.4(BRCA1):c.5386del (p.Ser1796fs)
|
rs80357838
|
|
NM_007294.4(BRCA1):c.5386dup (p.Ser1796fs)
|
rs80357838
|
|
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)
|
rs80357055
|
|
NM_007294.4(BRCA1):c.5398del (p.Gly1801fs)
|
rs1064794662
|
|
NM_007294.4(BRCA1):c.5406+1G>A
|
rs80358028
|
|
NM_007294.4(BRCA1):c.5406+1G>C
|
rs80358028
|
|
NM_007294.4(BRCA1):c.5406+2T>A
|
rs2051071309
|
|
NM_007294.4(BRCA1):c.5406+4A>G
|
rs397509279
|
|
NM_007294.4(BRCA1):c.5407-1G>A
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5407-1G>C
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala)
|
rs80357149
|
|
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)
|
rs80357558
|
|
NM_007294.4(BRCA1):c.541G>T (p.Glu181Ter)
|
rs1131692162
|
|
NM_007294.4(BRCA1):c.5427_5433del (p.Val1810fs)
|
|
|
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs)
|
rs1555574739
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.5432_5439del (p.Gln1811fs)
|
|
|
NM_007294.4(BRCA1):c.5432del (p.Gln1811fs)
|
rs2152796748
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.5434_5449del (p.Pro1812fs)
|
rs2152780514
|
|
NM_007294.4(BRCA1):c.5440dup (p.Ala1814fs)
|
rs1057517637
|
|
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)
|
rs397509284
|
|
NM_007294.4(BRCA1):c.5451_5455del (p.Asp1818fs)
|
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
NM_007294.4(BRCA1):c.5463_5464insT (p.His1822fs)
|
rs1057518636
|
|
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)
|
rs80357212
|
|
NM_007294.4(BRCA1):c.5468-1G>A
|
rs80358048
|
|
NM_007294.4(BRCA1):c.5468-1_5469del
|
rs2152598561
|
|
NM_007294.4(BRCA1):c.5468-2A>G
|
rs398122699
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+1G>C
|
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_5477del
|
rs80357973
|
|
NM_007294.4(BRCA1):c.5474_5481del (p.Gly1825fs)
|
rs730881441
|
|
NM_007294.4(BRCA1):c.5478_5479dup (p.Met1827fs)
|
rs80357757
|
|
NM_007294.4(BRCA1):c.5484T>A (p.Cys1828Ter)
|
rs2050885130
|
|
NM_007294.4(BRCA1):c.5484dup (p.Glu1829Ter)
|
|
|
NM_007294.4(BRCA1):c.5485dup (p.Glu1829fs)
|
rs768401297
|
|
NM_007294.4(BRCA1):c.5490del (p.Pro1831fs)
|
rs80357976
|
|
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5497_5506del (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5497del (p.Val1832_Val1833insTer)
|
rs2152561810
|
|
NM_007294.4(BRCA1):c.5500_5526delinsCACTGGTAGAGT (p.Thr1834_Val1842delinsHisTrpTer)
|
rs2152535126
|
|
NM_007294.4(BRCA1):c.5503del (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs)
|
rs397509291
|
|
NM_007294.4(BRCA1):c.5509T>A (p.Trp1837Arg)
|
rs80356959
|
|
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.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.5511G>T (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5512del (p.Val1838fs)
|
rs80357839
|
|
NM_007294.4(BRCA1):c.5514del (p.Leu1839fs)
|
rs2152544961
|
|
NM_007294.4(BRCA1):c.5516del (p.Leu1839fs)
|
rs2152543224
|
|
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs)
|
rs1597796956
|
|
NM_007294.4(BRCA1):c.5521del (p.Ser1841fs)
|
rs80357721
|
|
NM_007294.4(BRCA1):c.5523T>G (p.Ser1841Arg)
|
rs878854960
|
|
NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs)
|
rs879255287
|
|
NM_007294.4(BRCA1):c.5525del (p.Val1842fs)
|
rs864622220
|
|
NM_007294.4(BRCA1):c.5533dup (p.Tyr1845fs)
|
rs397509294
|
|
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.5542C>T (p.Gln1848Ter)
|
rs886040303
|
|
NM_007294.4(BRCA1):c.5554_5555del (p.Thr1852fs)
|
rs2050861886
|
|
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)
|
rs80357258
|
|
NM_007294.4(BRCA1):c.5559C>A (p.Tyr1853Ter)
|
rs80357336
|
|
NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter)
|
rs80357336
|
|
NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter)
|
rs397509299
|
|
NM_007294.4(BRCA1):c.64_65dup (p.Leu22fs)
|
rs80357642
|
|
NM_007294.4(BRCA1):c.65T>G (p.Leu22Ter)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.65_66insTA (p.Leu22fs)
|
rs1567823254
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.671-1G>T
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
NM_007294.4(BRCA1):c.671-2A>T
|
rs80358108
|
|
NM_007294.4(BRCA1):c.671-8_671-2del
|
rs2154501062
|
|
NM_007294.4(BRCA1):c.672del (p.Ala225fs)
|
rs2154500888
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter)
|
rs879255319
|
|
NM_007294.4(BRCA1):c.67_75del (p.Glu23_Pro25del)
|
rs1555600865
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs)
|
rs886040308
|
|
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.697del (p.Asp232_Val233insTer)
|
rs1555593298
|
|
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
NM_007294.4(BRCA1):c.701_702insTG (p.Asn235fs)
|
|
|
NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter)
|
rs2154496548
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.70_73dup (p.Pro25fs)
|
rs397509310
|
|
NM_007294.4(BRCA1):c.717_720del (p.Gln240fs)
|
|
|
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.726del (p.Ser242fs)
|
|
|
NM_007294.4(BRCA1):c.72T>A (p.Cys24Ter)
|
rs1597923232
|
|
NM_007294.4(BRCA1):c.72T>G (p.Cys24Trp)
|
rs1597923232
|
|
NM_007294.4(BRCA1):c.736_737del (p.Leu246fs)
|
|
|
NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer)
|
rs397509312
|
|
NM_007294.4(BRCA1):c.742_743del (p.Thr248fs)
|
|
|
NM_007294.4(BRCA1):c.744del (p.Thr249fs)
|
rs1060502360
|
|
NM_007294.4(BRCA1):c.745_746del (p.Thr248_Thr249insTer)
|
rs886037978
|
|
NM_007294.4(BRCA1):c.754del (p.Arg252fs)
|
rs1555593195
|
|
NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter)
|
rs80357009
|
|
NM_007294.4(BRCA1):c.775del (p.Glu259fs)
|
rs80357628
|
|
NM_007294.4(BRCA1):c.778A>T (p.Lys260Ter)
|
rs786202263
|
|
NM_007294.4(BRCA1):c.779dup (p.Tyr261fs)
|
rs886040317
|
|
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.788del (p.Gly263fs)
|
rs886040319
|
|
NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer)
|
rs886040319
|
|
NM_007294.4(BRCA1):c.791del (p.Ser264fs)
|
rs2154492556
|
|
NM_007294.4(BRCA1):c.796_807delinsA (p.Val266fs)
|
rs1064792958
|
|
NM_007294.4(BRCA1):c.798_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>T
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+2T>G
|
rs80358128
|
|
NM_007294.4(BRCA1):c.80+3A>C
|
rs1567823106
|
|
NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter)
|
rs80357392
|
|
NM_007294.4(BRCA1):c.809del (p.His270fs)
|
rs80357965
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-1G>C
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-1G>T
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-2A>C
|
rs397509326
|
|
NM_007294.4(BRCA1):c.81-2A>G
|
rs397509326
|
|
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.832dup (p.Thr278fs)
|
rs886040325
|
|
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.848_879del (p.Ser282_Leu283insTer)
|
rs886039501
|
|
NM_007294.4(BRCA1):c.848dup (p.Leu283fs)
|
rs2054036520
|
|
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.85G>T (p.Glu29Ter)
|
rs80357443
|
|
NM_007294.4(BRCA1):c.862del (p.Ser288fs)
|
rs886040327
|
|
NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)
|
rs730881468
|
|
NM_007294.4(BRCA1):c.869T>G (p.Leu290Ter)
|
rs730881468
|
|
NM_007294.4(BRCA1):c.869del (p.Leu290fs)
|
rs1555592956
|
|
NM_007294.4(BRCA1):c.875del (p.Leu292fs)
|
rs886037981
|
|
NM_007294.4(BRCA1):c.876_879del (p.Thr293fs)
|
rs1555592938
|
|
NM_007294.4(BRCA1):c.882del (p.Asp295fs)
|
rs80357587
|
|
NM_007294.4(BRCA1):c.885_886del (p.Asp295fs)
|
rs786204261
|
|
NM_007294.4(BRCA1):c.885_888del (p.Asp295fs)
|
rs1060502359
|
|
NM_007294.4(BRCA1):c.892_895dup (p.Val299fs)
|
rs80357806
|
|
NM_007294.4(BRCA1):c.893_894del (p.Asn298fs)
|
rs1555592891
|
|
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.904del (p.Ala302fs)
|
rs273903793
|
|
NM_007294.4(BRCA1):c.915dup (p.Asn306Ter)
|
rs2154485546
|
|
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.933del (p.Gly312fs)
|
rs1135401839
|
|
NM_007294.4(BRCA1):c.934_937dup (p.Leu313fs)
|
|
|
NM_007294.4(BRCA1):c.949_953del (p.Ser316_Gln317insTer)
|
rs80357555
|
|
NM_007294.4(BRCA1):c.94A>T (p.Lys32Ter)
|
rs2055258887
|
|
NM_007294.4(BRCA1):c.952_1015del (p.His318fs)
|
rs80359872
|
|
NM_007294.4(BRCA1):c.953delinsTGT (p.His318fs)
|
rs2054018121
|
|
NM_007294.4(BRCA1):c.954_955insTT (p.Asn319fs)
|
rs80357690
|
|
NM_007294.4(BRCA1):c.954del (p.His318fs)
|
rs1567801398
|
|
NM_007294.4(BRCA1):c.954dup (p.Asn319Ter)
|
rs80357690
|
|
NM_007294.4(BRCA1):c.959_981del (p.Arg320fs)
|
rs2154481407
|
|
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.964_968del (p.Ala322fs)
|
rs1555592744
|
|
NM_007294.4(BRCA1):c.964del (p.Ala322fs)
|
rs273903794
|
|
NM_007294.4(BRCA1):c.971del (p.Ser324fs)
|
rs2054014288
|
|
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.982del (p.Cys328fs)
|
|
|
NM_007294.4(BRCA1):c.984_985insC (p.Asn329fs)
|
rs80357775
|
|
NM_007294.4(BRCA1):c.984_988del (p.Cys328_Asp330delinsTer)
|
rs786204262
|
|
Single allele
|
|
|
U14680.1(BRCA1):n.5274delG
|
rs80357743
|
|