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.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.213-11T>G
|
rs80358061
|
0.00001
|
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
NM_007294.4(BRCA1):c.302-2del
|
rs273899695
|
0.00001
|
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)
|
rs80357134
|
0.00001
|
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)
|
rs80356989
|
0.00001
|
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs)
|
rs80357981
|
0.00001
|
NM_007294.4(BRCA1):c.4357+1G>A
|
rs80358027
|
0.00001
|
NM_007294.4(BRCA1):c.4485-1G>A
|
rs80358189
|
0.00001
|
NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)
|
rs80357437
|
0.00001
|
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
|
rs80356988
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
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.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
|
GRCh37/hg19 17q21.31(chr17:41226354-41259367)x1
|
|
|
NM_007294.3(BRCA1):c.457_458ins21 (p.?)
|
|
|
NM_007294.3:c.-232_*1383del
|
|
|
NM_007294.3:c.-232_80del
|
|
|
NM_007294.3:c.442_593del
|
|
|
NM_007294.3:c.5075_5193del
|
|
|
NM_007294.3:c.548_4185del
|
|
|
NM_007294.4(BRCA1):c.1016del (p.Lys339fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1039_1040del (p.Leu347fs)
|
rs397508827
|
|
NM_007294.4(BRCA1):c.1045G>T (p.Glu349Ter)
|
rs80357338
|
|
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.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)
|
rs80359875
|
|
NM_007294.4(BRCA1):c.1110del (p.Pro371fs)
|
rs1555592474
|
|
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)
|
rs80357468
|
|
NM_007294.4(BRCA1):c.1127del (p.Asn376fs)
|
rs80357821
|
|
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)
|
rs80357949
|
|
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.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.117_118del (p.Cys39_Asp40delinsTer)
|
rs80357972
|
|
NM_007294.4(BRCA1):c.1205dup (p.Ser403fs)
|
rs1555592219
|
|
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
|
rs80357327
|
|
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.1326T>A (p.Cys442Ter)
|
rs397508854
|
|
NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs)
|
rs397508857
|
|
NM_007294.4(BRCA1):c.134+1G>C
|
rs80358043
|
|
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.1386del (p.Thr464fs)
|
rs80357722
|
|
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)
|
rs80357734
|
|
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs)
|
rs879255476
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter)
|
rs80357490
|
|
NM_007294.4(BRCA1):c.1434del (p.Glu479fs)
|
rs431825386
|
|
NM_007294.4(BRCA1):c.143del (p.Met48fs)
|
rs80357637
|
|
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter)
|
rs80357304
|
|
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)
|
rs62625303
|
|
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.1523del (p.Pro508fs)
|
rs80357782
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter)
|
rs142074233
|
|
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)
|
rs80356893
|
|
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.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1695dup (p.Lys566fs)
|
rs273897664
|
|
NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs)
|
rs80357640
|
|
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)
|
rs80357471
|
|
NM_007294.4(BRCA1):c.1812del (p.Ala605fs)
|
rs80357927
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.1860del (p.His621fs)
|
rs730881459
|
|
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)
|
rs80357516
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.1892dup (p.Ser632fs)
|
rs80357932
|
|
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.1918C>T (p.Gln640Ter)
|
rs886039981
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.1921del (p.Ile641fs)
|
rs397507194
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs)
|
rs80357753
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
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.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.2043dup (p.Asn682Ter)
|
rs863224510
|
|
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)
|
rs273898674
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2090dup (p.Glu699fs)
|
rs886039996
|
|
NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter)
|
rs876660282
|
|
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
|
rs80357298
|
|
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)
|
rs80357880
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.212+1G>A
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+2T>C
|
rs80358026
|
|
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs)
|
rs80357871
|
|
NM_007294.4(BRCA1):c.2125_2126insAGT (p.Phe709Ter)
|
rs1555590428
|
|
NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.2130delinsAA (p.Cys712fs)
|
rs1060502332
|
|
NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter)
|
rs80357233
|
|
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.2188_2201del (p.Glu730fs)
|
rs273898681
|
|
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter)
|
rs80357426
|
|
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter)
|
rs397508949
|
|
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)
|
rs80357507
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2206G>T (p.Glu736Ter)
|
|
|
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter)
|
rs56329598
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2217dup (p.Val740fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2241del (p.Asp749fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter)
|
rs80357449
|
|
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.2314del (p.Val772fs)
|
rs80357957
|
|
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.2386_2387delinsT (p.Lys795_Thr796insTer)
|
rs876660305
|
|
NM_007294.4(BRCA1):c.2389_2390del (p.Glu797fs)
|
rs80357695
|
|
NM_007294.4(BRCA1):c.2406_2409del (p.Gln804fs)
|
rs80357674
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.2418del (p.Ala807fs)
|
rs879255281
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2488_2504dup (p.His835fs)
|
rs483353078
|
|
NM_007294.4(BRCA1):c.2517_2518del (p.His839fs)
|
rs397508974
|
|
NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter)
|
rs398122662
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs)
|
rs80357948
|
|
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.2704del (p.Glu902fs)
|
rs886040064
|
|
NM_007294.4(BRCA1):c.2709_2710del (p.Cys903_Glu904delinsTer)
|
rs886040065
|
|
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.273_274del (p.Ala92fs)
|
rs587776485
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs)
|
rs80357822
|
|
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs)
|
rs80357661
|
|
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.2860_2864del (p.Leu954fs)
|
rs1597867185
|
|
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)
|
rs80357295
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007294.4(BRCA1):c.2901_2902dup (p.Pro968fs)
|
rs398122670
|
|
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter)
|
rs80356872
|
|
NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter)
|
rs80357497
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2934del (p.Arg979fs)
|
rs80357741
|
|
NM_007294.4(BRCA1):c.2940del (p.Pro981fs)
|
rs80357876
|
|
NM_007294.4(BRCA1):c.2952del (p.Ile986fs)
|
rs80357627
|
|
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>A (p.Met1Lys)
|
rs80357111
|
|
NM_007294.4(BRCA1):c.3005del (p.Asn1002fs)
|
rs80357601
|
|
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)
|
rs80357617
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
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.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3066del (p.Thr1022_Val1023insTer)
|
rs786202906
|
|
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)
|
rs80357647
|
|
NM_007294.4(BRCA1):c.3113_3114del (p.Glu1038fs)
|
rs1567792876
|
|
NM_007294.4(BRCA1):c.3136G>T (p.Glu1046Ter)
|
rs1555588329
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer)
|
rs80357702
|
|
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)
|
rs80357511
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
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.406dup (p.Arg136fs)
|
rs80357709
|
|
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.4136_4137del (p.Val1378_Ser1379insTer)
|
rs397509141
|
|
NM_007294.4(BRCA1):c.4146_4155dup (p.Ser1386fs)
|
rs483353079
|
|
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs)
|
rs80357565
|
|
NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter)
|
rs876660601
|
|
NM_007294.4(BRCA1):c.4163_4166del (p.Gln1388fs)
|
rs80357532
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185+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.4225C>T (p.Gln1409Ter)
|
rs886040218
|
|
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.4321dup (p.Asp1441fs)
|
rs80357748
|
|
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.4357+1G>T
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)
|
rs786204267
|
|
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.4389_4392dup (p.Ile1465fs)
|
rs879255282
|
|
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs)
|
rs80357916
|
|
NM_007294.4(BRCA1):c.4400_4418delinsTTT (p.Gln1467fs)
|
rs876659310
|
|
NM_007294.4(BRCA1):c.4401del (p.Asn1468fs)
|
rs587781611
|
|
NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter)
|
rs886040230
|
|
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)
|
rs138608489
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4484+2T>G
|
rs1555582520
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)
|
rs398122687
|
|
NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter)
|
rs80357437
|
|
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.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
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.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.4724del (p.Pro1575fs)
|
rs397509191
|
|
NM_007294.4(BRCA1):c.4749_4750del (p.Arg1583fs)
|
rs80357641
|
|
NM_007294.4(BRCA1):c.4754_4755del (p.Pro1585fs)
|
rs80357837
|
|
NM_007294.4(BRCA1):c.4760C>G (p.Ser1587Ter)
|
rs397509195
|
|
NM_007294.4(BRCA1):c.4781del (p.Pro1594fs)
|
rs2052409873
|
|
NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs)
|
rs730880287
|
|
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)
|
rs80356862
|
|
NM_007294.4(BRCA1):c.4883del (p.Met1628fs)
|
|
|
NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter)
|
rs397509205
|
|
NM_007294.4(BRCA1):c.4933del (p.Arg1645fs)
|
rs80357833
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs)
|
rs879255295
|
|
NM_007294.4(BRCA1):c.4986+1G>T
|
rs80358162
|
|
NM_007294.4(BRCA1):c.4987_5074del (p.Val1665Serfs)
|
|
|
NM_007294.4(BRCA1):c.4996_4997dup (p.Lys1667fs)
|
rs1555579782
|
|
NM_007294.4(BRCA1):c.5019del (p.His1673fs)
|
rs886040260
|
|
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.5042del (p.Thr1681fs)
|
rs886040265
|
|
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)
|
rs80358344
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>A
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5075-2A>G
|
rs80358066
|
|
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.5109T>G (p.Tyr1703Ter)
|
rs80356974
|
|
NM_007294.4(BRCA1):c.5116G>T (p.Gly1706Ter)
|
rs886040864
|
|
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.5152+1G>C
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+5G>A
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5153-1G>A
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5176del (p.Arg1726fs)
|
rs876658478
|
|
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)
|
rs80357867
|
|
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)
|
rs80357347
|
|
NM_007294.4(BRCA1):c.5193+1G>A
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+1del
|
rs397509236
|
|
NM_007294.4(BRCA1):c.5194-1G>T
|
rs80358173
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.520del (p.Gln174fs)
|
rs80357639
|
|
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)
|
rs80356937
|
|
NM_007294.4(BRCA1):c.5228del (p.Gly1743fs)
|
rs1567764473
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5249del (p.Lys1750fs)
|
rs879253993
|
|
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)
|
rs397509246
|
|
NM_007294.4(BRCA1):c.5259del (p.Glu1754fs)
|
rs80357925
|
|
NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter)
|
rs80357432
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
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.5307T>A (p.Tyr1769Ter)
|
rs397509258
|
|
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)
|
rs80357823
|
|
NM_007294.4(BRCA1):c.5332+1G>A
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5333-1G>A
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333_5406del (p.Asp1778fs)
|
rs2051071982
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter)
|
rs80357219
|
|
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)
|
rs80357284
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)
|
rs786203663
|
|
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)
|
rs879254116
|
|
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)
|
rs80357055
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5406+4A>G
|
rs397509279
|
|
NM_007294.4(BRCA1):c.5407-1G>A
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5407-2A>G
|
rs80358002
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007294.4(BRCA1):c.5470_5477delATTGGGCA
|
rs80357973
|
|
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)
|
rs80357307
|
|
NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter)
|
rs397509299
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
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.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter)
|
rs80357321
|
|
NM_007294.4(BRCA1):c.794_795del (p.Ser265fs)
|
rs80357955
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.799dup (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.809del (p.His270fs)
|
rs80357965
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-2A>C
|
rs397509326
|
|
NM_007294.4(BRCA1):c.81-2del
|
rs273902791
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
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.848T>G (p.Leu283Ter)
|
rs273902792
|
|
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.895_896del (p.Val299fs)
|
rs80357670
|
|
NM_007294.4(BRCA1):c.89T>A (p.Leu30Ter)
|
rs397509331
|
|
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.930del (p.Gln310fs)
|
rs80357689
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter)
|
rs886040335
|
|
NM_007294.4:c.4186_4357dup
|
|
|
NM_007294.4:c.445_650del
|
|
|
NM_007298.4(BRCA1):c.1049-3_1172del
|
|
|