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.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
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.3485del (p.Asp1162fs)
|
rs80357509
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
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.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.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.5363G>T (p.Gly1788Val)
|
rs80357069
|
0.00001
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5467+1G>A
|
rs80358145
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)
|
rs80357629
|
0.00001
|
4586INS5
|
|
|
NM_007294.3(BRCA1):c.1298_1299ins4
|
|
|
NM_007294.3(BRCA1):c.1387_1390delAAAAins5
|
|
|
NM_007294.3(BRCA1):c.1877_1878ins4
|
|
|
NM_007294.3(BRCA1):c.2125_2126ins3
|
|
|
NM_007294.3(BRCA1):c.2504_2505ins17 (p.?)
|
|
|
NM_007294.3(BRCA1):c.3052_3053ins5
|
|
|
NM_007294.3(BRCA1):c.3164_3165ins4
|
|
|
NM_007294.3(BRCA1):c.3671_3672ins4
|
|
|
NM_007294.3(BRCA1):c.3839_3843delCTCAGins4
|
|
|
NM_007294.3(BRCA1):c.4155_4156ins10 (p.?)
|
|
|
NM_007294.3(BRCA1):c.4388_4389ins7
|
|
|
NM_007294.3(BRCA1):c.4450_4451ins4
|
|
|
NM_007294.3(BRCA1):c.5232_5238delAAACCACins12 (p.?)
|
|
|
NM_007294.3(BRCA1):c.824_825ins10 (p.?)
|
|
|
NM_007294.4(BRCA1):c.*103_*106del
|
rs431825382
|
|
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.1067del (p.Gln356fs)
|
rs80357796
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)
|
rs80359875
|
|
NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter)
|
rs398122627
|
|
NM_007294.4(BRCA1):c.1121del (p.Thr374fs)
|
rs80357612
|
|
NM_007294.4(BRCA1):c.1148_1149del (p.Asn383fs)
|
rs431825384
|
|
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)
|
rs80357498
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1175_1215del (p.Leu392fs)
|
rs397507180
|
|
NM_007294.4(BRCA1):c.1175_1216del (p.Leu392_Asn406delinsHis)
|
rs397507181
|
|
NM_007294.4(BRCA1):c.1175_1218del (p.Leu392fs)
|
rs397507183
|
|
NM_007294.4(BRCA1):c.1177_1219del (p.Leu393fs)
|
rs397507182
|
|
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer)
|
rs80357972
|
|
NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)
|
rs80357481
|
|
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)
|
rs80357576
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.130del (p.Cys44fs)
|
rs80357951
|
|
NM_007294.4(BRCA1):c.130dup (p.Cys44fs)
|
rs80357951
|
|
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.1323_1324del (p.Ile441fs)
|
rs80357570
|
|
NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs)
|
rs80357543
|
|
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter)
|
rs398122630
|
|
NM_007294.4(BRCA1):c.1336dup (p.Arg446fs)
|
rs80357978
|
|
NM_007294.4(BRCA1):c.134+2T>C
|
rs80358131
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1361del (p.Ser454fs)
|
rs398122632
|
|
NM_007294.4(BRCA1):c.1377_1378del (p.Lys459fs)
|
rs398122633
|
|
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)
|
rs80357714
|
|
NM_007294.4(BRCA1):c.1386del (p.Thr464fs)
|
rs80357722
|
|
NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs)
|
rs273897659
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
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.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.1480C>T (p.Gln494Ter)
|
rs80357010
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1510del (p.Arg504fs)
|
rs80357908
|
|
NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter)
|
rs398122636
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1575dup (p.Gln526fs)
|
rs879255478
|
|
NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs)
|
rs431825387
|
|
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.1621C>T (p.Gln541Ter)
|
rs80356904
|
|
NM_007294.4(BRCA1):c.1628del (p.Gly543fs)
|
rs398122640
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs)
|
rs80357640
|
|
NM_007294.4(BRCA1):c.1728dup (p.Glu577fs)
|
rs397507192
|
|
NM_007294.4(BRCA1):c.1744del (p.Thr582fs)
|
rs398122641
|
|
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.1772del (p.Ile591fs)
|
rs80357901
|
|
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.179del (p.Gln60fs)
|
rs80357591
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)
|
rs80357093
|
|
NM_007294.4(BRCA1):c.1854del (p.Arg618fs)
|
rs397507193
|
|
NM_007294.4(BRCA1):c.1875del (p.Leu625_Val626insTer)
|
rs398122646
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.18_19insG (p.Arg7fs)
|
rs398122648
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter)
|
rs80357267
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1921del (p.Ile641fs)
|
rs397507194
|
|
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)
|
rs397507194
|
|
NM_007294.4(BRCA1):c.1949_1950insCA (p.Lys652fs)
|
rs1555590829
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1972del (p.Met658fs)
|
rs397507195
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2001dup (p.Leu668fs)
|
rs80357521
|
|
NM_007294.4(BRCA1):c.2019del (p.Glu673fs)
|
rs80357626
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.203_204del (p.Ile68fs)
|
rs398122651
|
|
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2101_2102del (p.Lys701fs)
|
rs431825389
|
|
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)
|
rs80357880
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.212+1G>A
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
rs80358042
|
|
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs)
|
rs80357871
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)
|
rs398122653
|
|
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)
|
rs80356875
|
|
NM_007294.4(BRCA1):c.2176del (p.Leu726fs)
|
rs80357668
|
|
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter)
|
rs397508949
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2206del (p.Glu736fs)
|
rs80357860
|
|
NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs)
|
rs80357654
|
|
NM_007294.4(BRCA1):c.2213_2214dup (p.Lys739fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2214del (p.Val740fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2241del (p.Asp749fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2241dup (p.Lys748fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2245_2246dup (p.Asp749fs)
|
rs398122654
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
NM_007294.4(BRCA1):c.2296_2297del (p.Glu765_Ser766insTer)
|
rs80357780
|
|
NM_007294.4(BRCA1):c.2299del (p.Ser767fs)
|
rs80357786
|
|
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2331_2332dup (p.Gly778fs)
|
rs431825390
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2386dup (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.2403T>A (p.Cys801Ter)
|
rs80357381
|
|
NM_007294.4(BRCA1):c.2410C>T (p.Gln804Ter)
|
rs80356982
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.241_251del (p.Gln81fs)
|
rs398122659
|
|
NM_007294.4(BRCA1):c.2424del (p.Phe808fs)
|
rs397507200
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2443del (p.Ile815fs)
|
rs80357598
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
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.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)
|
rs80357251
|
|
NM_007294.4(BRCA1):c.2646_2648del (p.Cys882_Ala883delinsTer)
|
rs80357513
|
|
NM_007294.4(BRCA1):c.2654del (p.Phe885fs)
|
rs398122663
|
|
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.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2686dup (p.Ser896fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2710G>T (p.Glu904Ter)
|
rs80357035
|
|
NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs)
|
rs80357731
|
|
NM_007294.4(BRCA1):c.2719del (p.Glu907fs)
|
rs879255481
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs)
|
rs80357605
|
|
NM_007294.4(BRCA1):c.273_274del (p.Ala92fs)
|
rs587776485
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
NM_007294.4(BRCA1):c.2766del (p.Val923fs)
|
rs80357812
|
|
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs)
|
rs80357661
|
|
NM_007294.4(BRCA1):c.2774del (p.Ile925fs)
|
rs398122669
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
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.2901_2902dup (p.Pro968fs)
|
rs398122670
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2940del (p.Pro981fs)
|
rs80357876
|
|
NM_007294.4(BRCA1):c.2955del (p.Ile986fs)
|
rs397509027
|
|
NM_007294.4(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer)
|
rs397507207
|
|
NM_007294.4(BRCA1):c.2989_2990dup (p.Asn997fs)
|
rs80357829
|
|
NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)
|
rs80357991
|
|
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.3013del (p.Glu1005fs)
|
rs80357937
|
|
NM_007294.4(BRCA1):c.302-2A>C
|
rs80358011
|
|
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)
|
rs80357510
|
|
NM_007294.4(BRCA1):c.3037_3038del (p.Glu1013fs)
|
rs397507208
|
|
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)
|
rs80357647
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter)
|
rs80357841
|
|
NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter)
|
rs80357161
|
|
NM_007294.4(BRCA1):c.3174del (p.Asn1059fs)
|
rs397507210
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)
|
rs80357511
|
|
NM_007294.4(BRCA1):c.3204del (p.Gln1069fs)
|
rs398122673
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3253dup (p.Arg1085fs)
|
rs80357517
|
|
NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs)
|
rs80357624
|
|
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)
|
rs80357006
|
|
NM_007294.4(BRCA1):c.3257del (p.Arg1085_Leu1086insTer)
|
rs80357858
|
|
NM_007294.4(BRCA1):c.329_330del (p.Lys110fs)
|
rs80357754
|
|
NM_007294.4(BRCA1):c.329del (p.Lys110fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.3329_3330del (p.Lys1110fs)
|
rs80357525
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer)
|
rs397509058
|
|
NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter)
|
rs397507215
|
|
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)
|
rs80357945
|
|
NM_007294.4(BRCA1):c.3359_3360del (p.Val1120fs)
|
rs80357843
|
|
NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter)
|
rs80357405
|
|
NM_007294.4(BRCA1):c.3390del (p.Asp1131fs)
|
rs80357900
|
|
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter)
|
rs80357018
|
|
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)
|
rs80357136
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
NM_007294.4(BRCA1):c.3442del (p.Glu1148fs)
|
rs80357808
|
|
NM_007294.4(BRCA1):c.3477_3479delinsC (p.Lys1160fs)
|
rs273899707
|
|
NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs)
|
rs80357781
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3503del (p.Asn1168fs)
|
rs397507216
|
|
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)
|
rs80357296
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3599_3600del (p.Gln1200fs)
|
rs398122674
|
|
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs)
|
rs80357980
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)
|
rs80357310
|
|
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter)
|
rs80357356
|
|
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs)
|
rs398122677
|
|
NM_007294.4(BRCA1):c.3676_3679del (p.Phe1226fs)
|
rs80357671
|
|
NM_007294.4(BRCA1):c.3683del (p.His1228fs)
|
rs397507217
|
|
NM_007294.4(BRCA1):c.368del (p.Ser123fs)
|
rs431825397
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
|
rs80357564
|
|
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)
|
rs80356903
|
|
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)
|
rs28897686
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs)
|
rs80357520
|
|
NM_007294.4(BRCA1):c.3759del (p.Lys1254fs)
|
rs431825398
|
|
NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter)
|
rs80357687
|
|
NM_007294.4(BRCA1):c.3761_3762insTT (p.Lys1254fs)
|
rs80357928
|
|
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)
|
rs80357848
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3771_3772delinsC (p.Glu1257fs)
|
rs397507218
|
|
NM_007294.4(BRCA1):c.3825dup (p.Leu1276fs)
|
rs397507220
|
|
NM_007294.4(BRCA1):c.3851_3852dup (p.Leu1285fs)
|
rs397507221
|
|
NM_007294.4(BRCA1):c.3853del (p.Ser1286fs)
|
rs397507222
|
|
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)
|
rs80357842
|
|
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)
|
rs80357254
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer)
|
rs80357646
|
|
NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)
|
rs80357461
|
|
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)
|
rs80357678
|
|
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)
|
rs80357318
|
|
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)
|
rs80357262
|
|
NM_007294.4(BRCA1):c.3991C>T (p.Gln1331Ter)
|
rs397507224
|
|
NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter)
|
rs80357021
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4038_4041del (p.Arg1347fs)
|
rs431825404
|
|
NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)
|
rs879255485
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4052T>A (p.Leu1351Ter)
|
rs397509132
|
|
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)
|
rs80357202
|
|
NM_007294.4(BRCA1):c.4062_4065del (p.Asn1355fs)
|
rs398122679
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4072G>T (p.Glu1358Ter)
|
rs397509136
|
|
NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter)
|
rs398122681
|
|
NM_007294.4(BRCA1):c.4097-1G>A
|
rs80358070
|
|
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)
|
rs398122682
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
NM_007294.4(BRCA1):c.4120_4121del (p.Glu1373_Ser1374insTer)
|
rs80357787
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
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>T
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4185+2T>A
|
rs431825406
|
|
NM_007294.4(BRCA1):c.4185+2_4185+22delinsA
|
rs273900724
|
|
NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)
|
rs397509151
|
|
NM_007294.4(BRCA1):c.4251_4252del (p.Leu1418fs)
|
rs80357977
|
|
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter)
|
rs80357305
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
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+2T>C
|
rs80358152
|
|
NM_007294.4(BRCA1):c.4357+2T>G
|
rs80358152
|
|
NM_007294.4(BRCA1):c.4387del (p.Tyr1463fs)
|
rs397507229
|
|
NM_007294.4(BRCA1):c.4389C>A (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.4393del (p.Pro1464_Ile1465insTer)
|
rs397507230
|
|
NM_007294.4(BRCA1):c.4427dup (p.Phe1477fs)
|
rs397507231
|
|
NM_007294.4(BRCA1):c.4482_4483del (p.Arg1495fs)
|
rs80357854
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)
|
rs398122687
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.4587_4590del (p.Ile1529fs)
|
rs431825409
|
|
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)
|
rs80357229
|
|
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter)
|
rs80356992
|
|
NM_007294.4(BRCA1):c.4618G>T (p.Glu1540Ter)
|
rs80357277
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
NM_007294.4(BRCA1):c.466dup (p.Leu156fs)
|
rs397507236
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter)
|
rs80357349
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer)
|
rs80357718
|
|
NM_007294.4(BRCA1):c.4749_4750del (p.Arg1583fs)
|
rs80357641
|
|
NM_007294.4(BRCA1):c.4775_4779delinsC (p.Asn1592fs)
|
rs397507237
|
|
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)
|
rs80357303
|
|
NM_007294.4(BRCA1):c.485_486del (p.Val162fs)
|
rs80357708
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4888_4889del (p.Glu1630fs)
|
rs879255490
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4986+1G>T
|
rs80358162
|
|
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.5027_5031del (p.Thr1675_Leu1676insTer)
|
rs431825410
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)
|
rs80357623
|
|
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)
|
rs80357896
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)
|
rs397507239
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)
|
rs80356896
|
|
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.5109T>G (p.Tyr1703Ter)
|
rs80356974
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)
|
rs80356947
|
|
NM_007294.4(BRCA1):c.5152+1G>A
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>C
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
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.5186del (p.Leu1729fs)
|
rs398122692
|
|
NM_007294.4(BRCA1):c.5193+1G>A
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1G>T
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+2del
|
rs273901751
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5259del (p.Glu1754fs)
|
rs80357925
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5268_5269insC (p.Asp1757fs)
|
rs431825414
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+1del
|
rs273901754
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)
|
rs80357823
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
NM_007294.4(BRCA1):c.5341G>T (p.Glu1781Ter)
|
rs397509268
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
NM_007294.4(BRCA1):c.5359T>A (p.Cys1787Ser)
|
rs80357065
|
|
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp)
|
rs80357069
|
|
NM_007294.4(BRCA1):c.5386del (p.Ser1796fs)
|
rs80357838
|
|
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)
|
rs80357055
|
|
NM_007294.4(BRCA1):c.5406+1G>A
|
rs80358028
|
|
NM_007294.4(BRCA1):c.5406+5G>A
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)
|
rs80357558
|
|
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)
|
rs397509284
|
|
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)
|
rs80357477
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007294.4(BRCA1):c.5478_5479dup (p.Met1827fs)
|
rs80357757
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)
|
rs397509295
|
|
NM_007294.4(BRCA1):c.628C>T (p.Gln210Ter)
|
rs879255495
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.670+1G>T
|
rs398122706
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
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.77T>A (p.Ile26Asn)
|
rs879255496
|
|
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter)
|
rs80357321
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-2A>G
|
rs397509326
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.85G>T (p.Glu29Ter)
|
rs80357443
|
|
NM_007294.4(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer)
|
rs397509335
|
|
NM_007294.4(BRCA1):c.929del (p.Gln310fs)
|
rs80357844
|
|
NM_007294.4(BRCA1):c.936del (p.Gly312_Leu313insTer)
|
rs398122709
|
|
NM_007294.4(BRCA1):c.949C>T (p.Gln317Ter)
|
rs80357211
|
|
NM_007294.4(BRCA1):c.952_1015del (p.His318fs)
|
rs80359872
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
NM_007294.4(BRCA1):c.964del (p.Ala322fs)
|
rs273903794
|
|
NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)
|
rs80357772
|
|
NP_009225.1(BRCA1):p.Ala521Ter
|
|
|
NP_009225.1(BRCA1):p.Cys39Ser
|
|
|
NP_009225.1(BRCA1):p.Gly1738Arg
|
|
|
NP_009225.1(BRCA1):p.Leu1086Ter
|
|
|
NP_009225.1(BRCA1):p.Leu1230Ter
|
|
|
NP_009225.1(BRCA1):p.Leu598Ter
|
|
|
NP_009225.1(BRCA1):p.Leu63Ter
|
|
|
NP_009225.1(BRCA1):p.Ser1383Ter
|
|
|
NP_009225.1(BRCA1):p.Ser713Ter
|
|
|
NP_009225.1(BRCA1):p.Ser864Ter
|
|
|
NP_009225.1(BRCA1):p.Ser868Ter
|
|
|
NP_009225.1(BRCA1):p.Ser955Ter
|
|
|
NP_009225.1(BRCA1):p.Trp1508Ter
|
|
|
NP_009225.1(BRCA1):p.Trp1712Ter
|
|
|
NP_009225.1(BRCA1):p.Trp1782Ter
|
|
|
NP_009225.1(BRCA1):p.Trp1815Ter
|
|
|
NP_009225.1(BRCA1):p.Trp321Ter
|
|
|
NP_009225.1(BRCA1):p.Tyr1563Ter
|
|
|
NP_009225.1(BRCA1):p.Tyr1703Ter
|
|
|
NP_009225.1(BRCA1):p.Tyr261Ter
|
|
|
NP_009225.1:p.Ser1007Ter
|
|
|