NM_007294.4(BRCA1):c.671-248_671-246dup
|
rs5820483
|
0.33157
|
NM_007294.4(BRCA1):c.5152+66G>A
|
rs3092994
|
0.30314
|
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)
|
rs1060915
|
0.29170
|
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)
|
rs16940
|
0.29035
|
NM_007294.4(BRCA1):c.5074+65G>A
|
rs8176235
|
0.23738
|
NM_007294.4(BRCA1):c.5074+284C>A
|
rs11654396
|
0.23139
|
NM_001407648.1(BRCA1):c.548-2429del
|
rs397509289
|
|
NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile)
|
rs80356848
|
|
NM_007294.4(BRCA1):c.1040del (p.Leu347fs)
|
rs397508828
|
|
NM_007294.4(BRCA1):c.1063A>T (p.Lys355Ter)
|
rs397508829
|
|
NM_007294.4(BRCA1):c.1076C>T (p.Pro359Leu)
|
rs397508831
|
|
NM_007294.4(BRCA1):c.1080_1081insA (p.Ser361fs)
|
rs397508832
|
|
NM_007294.4(BRCA1):c.1099dup (p.Thr367fs)
|
rs397508835
|
|
NM_007294.4(BRCA1):c.1100dup (p.Thr367_Glu368insTer)
|
rs397508836
|
|
NM_007294.4(BRCA1):c.1112del (p.Pro371fs)
|
rs397508837
|
|
NM_007294.4(BRCA1):c.1122_1123del (p.Leu375fs)
|
rs397508839
|
|
NM_007294.4(BRCA1):c.1158_1159del (p.Ser387fs)
|
rs397508842
|
|
NM_007294.4(BRCA1):c.1159dup (p.Ser387fs)
|
rs397508842
|
|
NM_007294.4(BRCA1):c.1175_1178del (p.Leu392fs)
|
rs397508844
|
|
NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)
|
rs80357068
|
|
NM_007294.4(BRCA1):c.1217del (p.Asn406fs)
|
rs397508846
|
|
NM_007294.4(BRCA1):c.122del (p.His41fs)
|
rs397508847
|
|
NM_007294.4(BRCA1):c.1262A>G (p.Glu421Gly)
|
rs397508849
|
|
NM_007294.4(BRCA1):c.1265_1266dup (p.Ser423fs)
|
rs397508850
|
|
NM_007294.4(BRCA1):c.1279G>T (p.Glu427Ter)
|
rs397508851
|
|
NM_007294.4(BRCA1):c.1293_1295delinsGA (p.Leu432fs)
|
rs397508852
|
|
NM_007294.4(BRCA1):c.130T>C (p.Cys44Arg)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.130T>G (p.Cys44Gly)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.1319dup (p.Leu440fs)
|
rs80357683
|
|
NM_007294.4(BRCA1):c.1339dup (p.Val447fs)
|
rs397508855
|
|
NM_007294.4(BRCA1):c.135-6T>G
|
rs397508859
|
|
NM_007294.4(BRCA1):c.1363_1364insGA (p.Asn455fs)
|
rs397508860
|
|
NM_007294.4(BRCA1):c.1380del (p.Phe461fs)
|
rs397508863
|
|
NM_007294.4(BRCA1):c.1393T>G (p.Tyr465Asp)
|
rs397508869
|
|
NM_007294.4(BRCA1):c.1458T>A (p.Phe486Leu)
|
rs80357400
|
|
NM_007294.4(BRCA1):c.1499_1508dup (p.Lys503_Arg504insTer)
|
rs397508873
|
|
NM_007294.4(BRCA1):c.1504_1518del (p.Leu502_Arg506del)
|
rs397508875
|
|
NM_007294.4(BRCA1):c.1506_1510del (p.Leu502_Lys503insTer)
|
rs397508876
|
|
NM_007294.4(BRCA1):c.1517_1521del (p.Arg506fs)
|
rs397508879
|
|
NM_007294.4(BRCA1):c.1519A>T (p.Arg507Ter)
|
rs397508880
|
|
NM_007294.4(BRCA1):c.1544A>G (p.Glu515Gly)
|
rs397508881
|
|
NM_007294.4(BRCA1):c.1565_1566insC (p.Leu523fs)
|
rs397508884
|
|
NM_007294.4(BRCA1):c.1570del (p.Ala524fs)
|
rs397508886
|
|
NM_007294.4(BRCA1):c.1595_1601del (p.Ile532fs)
|
rs397508888
|
|
NM_007294.4(BRCA1):c.160del (p.Gln54fs)
|
rs397508890
|
|
NM_007294.4(BRCA1):c.1631A>C (p.Gln544Pro)
|
rs397508892
|
|
NM_007294.4(BRCA1):c.1655G>T (p.Gly552Val)
|
rs397508893
|
|
NM_007294.4(BRCA1):c.1660G>T (p.Glu554Ter)
|
rs397508894
|
|
NM_007294.4(BRCA1):c.1669A>G (p.Thr557Ala)
|
rs397508895
|
|
NM_007294.4(BRCA1):c.167A>G (p.Lys56Arg)
|
rs397508897
|
|
NM_007294.4(BRCA1):c.168A>T (p.Lys56Asn)
|
rs397508898
|
|
NM_007294.4(BRCA1):c.1690A>C (p.Asn564His)
|
rs397507191
|
|
NM_007294.4(BRCA1):c.1700del (p.Asn567fs)
|
rs80357784
|
|
NM_007294.4(BRCA1):c.1716dup (p.Ser573fs)
|
rs397508900
|
|
NM_007294.4(BRCA1):c.1741A>T (p.Lys581Ter)
|
rs397508905
|
|
NM_007294.4(BRCA1):c.1744A>G (p.Thr582Ala)
|
rs397508906
|
|
NM_007294.4(BRCA1):c.178_179del (p.Gln60fs)
|
rs397508907
|
|
NM_007294.4(BRCA1):c.1817del (p.Pro606fs)
|
rs397508910
|
|
NM_007294.4(BRCA1):c.1846dup (p.Ser616fs)
|
rs397508914
|
|
NM_007294.4(BRCA1):c.188T>C (p.Leu63Ser)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.190_193del (p.Cys64fs)
|
rs397508917
|
|
NM_007294.4(BRCA1):c.1932T>G (p.Cys644Trp)
|
rs397508918
|
|
NM_007294.4(BRCA1):c.1960A>G (p.Lys654Glu)
|
rs80357355
|
|
NM_007294.4(BRCA1):c.1963dup (p.Tyr655fs)
|
rs397508924
|
|
NM_007294.4(BRCA1):c.1967A>G (p.Asn656Ser)
|
rs397508925
|
|
NM_007294.4(BRCA1):c.2012_2013dup (p.Lys672fs)
|
rs397508928
|
|
NM_007294.4(BRCA1):c.2021del (p.Pro674fs)
|
rs397508930
|
|
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs)
|
rs397508931
|
|
NM_007294.4(BRCA1):c.2048del (p.Lys683fs)
|
rs397508933
|
|
NM_007294.4(BRCA1):c.2075_2076del (p.His692fs)
|
rs397508936
|
|
NM_007294.4(BRCA1):c.2086del (p.Thr696fs)
|
rs397508937
|
|
NM_007294.4(BRCA1):c.211dup (p.Arg71fs)
|
rs397508938
|
|
NM_007294.4(BRCA1):c.2166del (p.Asn723fs)
|
rs397508943
|
|
NM_007294.4(BRCA1):c.2174del (p.Ser725fs)
|
rs397508944
|
|
NM_007294.4(BRCA1):c.2196del (p.Glu733fs)
|
rs397508948
|
|
NM_007294.4(BRCA1):c.2211_2212del (p.Thr737_Val738insTer)
|
rs397508950
|
|
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2308del (p.Ser770fs)
|
rs397508956
|
|
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg)
|
rs80357209
|
|
NM_007294.4(BRCA1):c.230delinsGTCAACTTGTT (p.Thr77fs)
|
rs397508957
|
|
NM_007294.4(BRCA1):c.2310_2311insC (p.Val772fs)
|
rs1555589947
|
|
NM_007294.4(BRCA1):c.2325_2326insA (p.Asp776fs)
|
rs397508959
|
|
NM_007294.4(BRCA1):c.2389del (p.Glu797fs)
|
rs397508965
|
|
NM_007294.4(BRCA1):c.2413T>C (p.Cys805Arg)
|
rs397508966
|
|
NM_007294.4(BRCA1):c.2440_2441insA (p.Leu814fs)
|
rs397508969
|
|
NM_007294.4(BRCA1):c.2486_2487del (p.Gly828_Phe829insTer)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2551del (p.Glu851fs)
|
rs397508977
|
|
NM_007294.4(BRCA1):c.2556del (p.Asp853fs)
|
rs397508978
|
|
NM_007294.4(BRCA1):c.2556dup (p.Asp853Ter)
|
rs397508978
|
|
NM_007294.4(BRCA1):c.2564_2565insTTGAT (p.Gln855delinsHisTer)
|
rs397508982
|
|
NM_007294.4(BRCA1):c.2600A>G (p.Gln867Arg)
|
rs397508985
|
|
NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs)
|
rs397508991
|
|
NM_007294.4(BRCA1):c.2665dup (p.Ser889fs)
|
rs397508992
|
|
NM_007294.4(BRCA1):c.2671del (p.Ser891fs)
|
rs397508993
|
|
NM_007294.4(BRCA1):c.2675T>C (p.Leu892Ser)
|
rs397508994
|
|
NM_007294.4(BRCA1):c.2679_2680del (p.Lys894fs)
|
rs397508995
|
|
NM_007294.4(BRCA1):c.2689_2690insA (p.Pro897fs)
|
rs397508999
|
|
NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)
|
rs397509004
|
|
NM_007294.4(BRCA1):c.273T>G (p.Cys91Trp)
|
rs397509006
|
|
NM_007294.4(BRCA1):c.2745dup (p.Asn916Ter)
|
rs397509008
|
|
NM_007294.4(BRCA1):c.2798_2799del (p.Gly933fs)
|
rs397509011
|
|
NM_007294.4(BRCA1):c.2812_2813del (p.Pro938fs)
|
rs730882056
|
|
NM_007294.4(BRCA1):c.2844_2853del (p.Gly949fs)
|
rs397509017
|
|
NM_007294.4(BRCA1):c.2848dup (p.Ser950fs)
|
rs397509018
|
|
NM_007294.4(BRCA1):c.2870dup (p.Phe958fs)
|
rs397509020
|
|
NM_007294.4(BRCA1):c.2872_2876del (p.Phe958fs)
|
rs397509021
|
|
NM_007294.4(BRCA1):c.2879G>A (p.Gly960Asp)
|
rs397509022
|
|
NM_007294.4(BRCA1):c.2921dup (p.Leu974fs)
|
rs80357611
|
|
NM_007294.4(BRCA1):c.2929_2930dup (p.Tyr978fs)
|
rs397509025
|
|
NM_007294.4(BRCA1):c.2967del (p.Phe989fs)
|
rs397509028
|
|
NM_007294.4(BRCA1):c.3072C>G (p.Ser1024Arg)
|
rs397509033
|
|
NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile)
|
rs397509034
|
|
NM_007294.4(BRCA1):c.3125_3134del (p.Ser1042fs)
|
rs397509036
|
|
NM_007294.4(BRCA1):c.3140T>C (p.Val1047Ala)
|
rs397509037
|
|
NM_007294.4(BRCA1):c.3152C>G (p.Thr1051Ser)
|
rs397509039
|
|
NM_007294.4(BRCA1):c.3157del (p.Glu1053fs)
|
rs397509041
|
|
NM_007294.4(BRCA1):c.3157dup (p.Glu1053fs)
|
rs397509042
|
|
NM_007294.4(BRCA1):c.3164del (p.Gly1055fs)
|
rs397509043
|
|
NM_007294.4(BRCA1):c.3169_3172del (p.Ser1057fs)
|
rs397509045
|
|
NM_007294.4(BRCA1):c.3183del (p.Ile1061fs)
|
rs397509046
|
|
NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs)
|
rs397509047
|
|
NM_007294.4(BRCA1):c.329A>C (p.Lys110Thr)
|
rs397509053
|
|
NM_007294.4(BRCA1):c.340T>C (p.Ser114Pro)
|
rs397509062
|
|
NM_007294.4(BRCA1):c.346G>A (p.Glu116Lys)
|
rs397509071
|
|
NM_007294.4(BRCA1):c.38_39delinsGGG (p.Asn13fs)
|
rs1567823382
|
|
NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter)
|
rs397509140
|
|
NM_007294.4(BRCA1):c.4167del (p.Ser1389fs)
|
rs397509145
|
|
NM_007294.4(BRCA1):c.4172T>C (p.Ile1391Thr)
|
rs397509146
|
|
NM_007294.4(BRCA1):c.4183_4185delCAG (p.Gln1396del)
|
rs397509147
|
|
NM_007294.4(BRCA1):c.4186-1G>A
|
rs397509150
|
|
NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter)
|
rs397509153
|
|
NM_007294.4(BRCA1):c.4242_4243insT (p.Glu1415Ter)
|
rs397509155
|
|
NM_007294.4(BRCA1):c.4253T>G (p.Leu1418Ter)
|
rs397509157
|
|
NM_007294.4(BRCA1):c.4282_4283del (p.Ser1428fs)
|
rs397509159
|
|
NM_007294.4(BRCA1):c.4307_4308del (p.Ser1436fs)
|
rs397509161
|
|
NM_007294.4(BRCA1):c.4343G>C (p.Ser1448Thr)
|
rs80357354
|
|
NM_007294.4(BRCA1):c.4357+6T>G
|
rs80358143
|
|
NM_007294.4(BRCA1):c.437_440del (p.Ser146fs)
|
rs397509168
|
|
NM_007294.4(BRCA1):c.4391dup (p.Ile1465fs)
|
rs80357916
|
|
NM_007294.4(BRCA1):c.4396del (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.4447del (p.Ser1483fs)
|
rs397509177
|
|
NM_007294.4(BRCA1):c.4452_4455del (p.Thr1485fs)
|
rs397509178
|
|
NM_007294.4(BRCA1):c.4471C>G (p.Pro1491Ala)
|
rs111034213
|
|
NM_007294.4(BRCA1):c.4534_4535del (p.Ser1512fs)
|
rs397509183
|
|
NM_007294.4(BRCA1):c.457_458del (p.Ser153fs)
|
rs397509185
|
|
NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)
|
rs80357180
|
|
NM_007294.4(BRCA1):c.470_477del (p.Ser157fs)
|
rs397509190
|
|
NM_007294.4(BRCA1):c.472A>T (p.Asn158Tyr)
|
rs397509192
|
|
NM_007294.4(BRCA1):c.4743A>C (p.Glu1581Asp)
|
rs397509194
|
|
NM_007294.4(BRCA1):c.4764del (p.Arg1589fs)
|
rs397509196
|
|
NM_007294.4(BRCA1):c.4777A>T (p.Ile1593Leu)
|
rs397509197
|
|
NM_007294.4(BRCA1):c.4836dup (p.Ser1613fs)
|
rs397509198
|
|
NM_007294.4(BRCA1):c.488del (p.Arg163fs)
|
rs397509202
|
|
NM_007294.4(BRCA1):c.4910del (p.Pro1637fs)
|
rs397509204
|
|
NM_007294.4(BRCA1):c.4986+5G>T
|
rs397509211
|
|
NM_007294.4(BRCA1):c.4996T>C (p.Tyr1666His)
|
rs397509215
|
|
NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln)
|
rs397509218
|
|
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5075-1G>T
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-4G>A
|
rs397509220
|
|
NM_007294.4(BRCA1):c.5075_5078del (p.Asp1692fs)
|
rs397509223
|
|
NM_007294.4(BRCA1):c.5077_5080delinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln)
|
rs397509224
|
|
NM_007294.4(BRCA1):c.5087T>A (p.Val1696Glu)
|
rs397509226
|
|
NM_007294.4(BRCA1):c.5152+4A>G
|
rs397509232
|
|
NM_007294.4(BRCA1):c.5153-1G>T
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5179_5192del (p.Lys1727fs)
|
rs397509234
|
|
NM_007294.4(BRCA1):c.5182del (p.Met1728fs)
|
rs34570933
|
|
NM_007294.4(BRCA1):c.5194-2A>C
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5201T>C (p.Phe1734Ser)
|
rs397509237
|
|
NM_007294.4(BRCA1):c.5203G>A (p.Glu1735Lys)
|
rs397509238
|
|
NM_007294.4(BRCA1):c.5207del (p.Val1736fs)
|
rs397509239
|
|
NM_007294.4(BRCA1):c.5231del (p.Arg1744fs)
|
rs397509241
|
|
NM_007294.4(BRCA1):c.5241A>C (p.Gln1747His)
|
rs397509242
|
|
NM_007294.4(BRCA1):c.5242G>A (p.Gly1748Ser)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5245C>G (p.Pro1749Ala)
|
rs397509244
|
|
NM_007294.4(BRCA1):c.5258G>A (p.Arg1753Lys)
|
rs397509246
|
|
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)
|
rs397509246
|
|
NM_007294.4(BRCA1):c.5270_5276del (p.Asp1757fs)
|
rs397509248
|
|
NM_007294.4(BRCA1):c.5277+1G>C
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+21T>G
|
rs397509249
|
|
NM_007294.4(BRCA1):c.5277+3A>C
|
rs397509250
|
|
NM_007294.4(BRCA1):c.5277+4A>T
|
rs397509251
|
|
NM_007294.4(BRCA1):c.5277+5A>T
|
rs397509252
|
|
NM_007294.4(BRCA1):c.5278-2A>T
|
rs397509253
|
|
NM_007294.4(BRCA1):c.5278-6_5278-4del
|
rs397509254
|
|
NM_007294.4(BRCA1):c.5293G>T (p.Glu1765Ter)
|
rs397509256
|
|
NM_007294.4(BRCA1):c.5323_5324del (p.Met1775fs)
|
rs397509262
|
|
NM_007294.4(BRCA1):c.5332+1del
|
rs397509263
|
|
NM_007294.4(BRCA1):c.5332G>C (p.Asp1778His)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5332G>T (p.Asp1778Tyr)
|
rs80357112
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NM_007294.4(BRCA1):c.5333-6T>G
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rs397509266
|
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NM_007294.4(BRCA1):c.5355G>T (p.Gln1785His)
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rs397509269
|
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NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
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rs397509271
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NM_007294.4(BRCA1):c.5369_5385del (p.Ser1790fs)
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rs397509272
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NM_007294.4(BRCA1):c.536del (p.Tyr179fs)
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rs397509273
|
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NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter)
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rs397509274
|
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NM_007294.4(BRCA1):c.5382G>T (p.Glu1794Asp)
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rs397509275
|
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NM_007294.4(BRCA1):c.5414A>C (p.His1805Pro)
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rs397509281
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NM_007294.4(BRCA1):c.5467+5G>C
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rs397509287
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NM_007294.4(BRCA1):c.5467+8G>T
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rs80358062
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NM_007294.4(BRCA1):c.5497_5506del (p.Val1833fs)
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rs273902775
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NM_007294.4(BRCA1):c.5532_5533insG (p.Tyr1845fs)
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rs397509293
|
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NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter)
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rs80357336
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NM_007294.4(BRCA1):c.557C>T (p.Ser186Phe)
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rs55688530
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NM_007294.4(BRCA1):c.594-2A>G
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rs80358033
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NM_007294.4(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209fs)
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rs397509302
|
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NM_007294.4(BRCA1):c.62dup (p.Glu23fs)
|
rs397509303
|
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NM_007294.4(BRCA1):c.64_65del (p.Leu22fs)
|
rs397509304
|
|
NM_007294.4(BRCA1):c.668A>G (p.Lys223Arg)
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rs397509306
|
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NM_007294.4(BRCA1):c.66_67insC (p.Glu23fs)
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rs1555600909
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NM_007294.4(BRCA1):c.677_678insC (p.Cys226_Glu227insTer)
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rs397509307
|
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NM_007294.4(BRCA1):c.72_73del (p.Pro25fs)
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rs397509311
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NM_007294.4(BRCA1):c.73C>A (p.Pro25Thr)
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rs397509313
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NM_007294.4(BRCA1):c.742dup (p.Thr248fs)
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rs397509314
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NM_007294.4(BRCA1):c.75_80dup (p.Cys27_Leu28insIleCys)
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rs397509315
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NM_007294.4(BRCA1):c.768_769insA (p.His257fs)
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rs397509316
|
|
NM_007294.4(BRCA1):c.768_769insAG (p.His257fs)
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rs1555593156
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|
NM_007294.4(BRCA1):c.787G>T (p.Gly263Cys)
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rs397509318
|
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NM_007294.4(BRCA1):c.788G>C (p.Gly263Ala)
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rs397509319
|
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NM_007294.4(BRCA1):c.788G>T (p.Gly263Val)
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rs397509319
|
|
NM_007294.4(BRCA1):c.790A>T (p.Ser264Cys)
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rs397509321
|
|
NM_007294.4(BRCA1):c.791G>A (p.Ser264Asn)
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rs397509322
|
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NM_007294.4(BRCA1):c.80+6_80+9del
|
rs397509325
|
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NM_007294.4(BRCA1):c.81-6T>A
|
rs80358179
|
|
NM_007294.4(BRCA1):c.814_824dup (p.Thr276fs)
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rs1555593031
|
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NM_007294.4(BRCA1):c.827_828insT (p.Asn277fs)
|
rs397509329
|
|
NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter)
|
rs397509332
|
|
NM_007294.4(BRCA1):c.903_904insC (p.Ala302fs)
|
rs397509333
|
|
NM_007294.4(BRCA1):c.909del (p.Glu303fs)
|
rs397509334
|
|
NM_007294.4(BRCA1):c.961del (p.Trp321fs)
|
rs397509340
|
|
NM_007294.4(BRCA1):c.985_986del (p.Cys328_Asn329insTer)
|
rs397509341
|
|