NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
0.00001
|
NC_000017.10:g.(?_41199640)_(41203154_?)dup
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NC_000017.10:g.(?_41201118)_(41203154_?)dup
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NC_000017.10:g.(?_41209048)_(41209172_?)dup
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NC_000017.10:g.(?_41209048)_(41215988_?)dup
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NC_000017.10:g.(?_41209049)_(41215988_?)dup
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NC_000017.10:g.(?_41209063)_(41209158_?)dup
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NC_000017.10:g.(?_41215330)_(41223340_?)dup
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NC_000017.10:g.(?_41226531)_(41230159_?)del
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NC_000017.10:g.(?_41228505)_(41234592_?)dup
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NC_000017.10:g.(?_41242941)_(41249326_?)dup
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NC_000017.10:g.(?_41245526)_(41252711_?)del
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NC_000017.10:g.(?_41247857)_(41251903_?)del
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NC_000017.10:g.(?_41249241)_(41251921_?)dup
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NC_000017.10:g.(?_41251772)_(41251917_?)dup
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NC_000017.10:g.(?_41251772)_(41251921_?)dup
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NC_000017.10:g.(?_41251772)_(41258570_?)dup
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NC_000017.10:g.(?_41251772)_(41267816_?)dup
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NC_000017.10:g.(?_41256119)_(41258570_?)dup
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NC_000017.10:g.(?_41256119)_(41267816_?)dup
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NC_000017.10:g.(?_41267737)_(41267802_?)dup
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NC_000017.11:g.(?_43070908)_(43071258_?)dup
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NC_000017.11:g.(?_43074311)_(43082595_?)dup
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NC_000017.11:g.(?_43076468)_(43082595_?)dup
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NC_000017.11:g.(?_43090924)_(43099904_?)del
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NC_000017.11:g.(?_43090924)_(43115799_?)dup
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NC_000017.11:g.(?_43106450)_(43106539_?)del
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NC_000017.11:g.(?_43115706)_(43115799_?)dup
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NM_007294.3(BRCA1):c.135-?_441+?dup
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NM_007294.3(BRCA1):c.4358-?_5074+?del
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NM_007294.3(BRCA1):c.442-?_547+?(2)
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NM_007294.3(BRCA1):c.5075-?_5277+?dup203
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NM_007294.3(BRCA1):c.5278-?_5406+?dup129
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NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
|
rs80356880
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NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)
|
rs80357498
|
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NM_007294.4(BRCA1):c.121C>G (p.His41Asp)
|
rs1060502353
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NM_007294.4(BRCA1):c.122_134delinsT (p.His41_Lys45delinsLeu)
|
rs1555599205
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NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)
|
rs876658362
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NM_007294.4(BRCA1):c.134+5G>A
|
rs80358038
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NM_007294.4(BRCA1):c.134+5G>C
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rs80358038
|
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NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)
|
rs80357150
|
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NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
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NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)
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rs28897672
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NM_007294.4(BRCA1):c.212+3A>T
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rs80358083
|
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NM_007294.4(BRCA1):c.212G>T (p.Arg71Met)
|
rs80356913
|
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NM_007294.4(BRCA1):c.213-5T>A
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rs886038196
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NM_007294.4(BRCA1):c.286G>A (p.Asp96Asn)
|
rs80357110
|
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NM_007294.4(BRCA1):c.286G>C (p.Asp96His)
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rs80357110
|
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NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
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rs864622444
|
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NM_007294.4(BRCA1):c.302-3C>G
|
rs80358051
|
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NM_007294.4(BRCA1):c.4097-20_4134del
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rs2053440925
|
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NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr)
|
rs273900729
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NM_007294.4(BRCA1):c.4484+1del
|
rs397509181
|
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NM_007294.4(BRCA1):c.4485-1G>C
|
rs80358189
|
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NM_007294.4(BRCA1):c.4485-2A>C
|
rs80358054
|
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NM_007294.4(BRCA1):c.4485-2A>T
|
rs80358054
|
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NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
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NM_007294.4(BRCA1):c.4676-1G>A
|
rs80358008
|
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NM_007294.4(BRCA1):c.4676-1G>C
|
rs80358008
|
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NM_007294.4(BRCA1):c.4676-2A>C
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rs80358096
|
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NM_007294.4(BRCA1):c.4676-2A>G
|
rs80358096
|
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NM_007294.4(BRCA1):c.4986+5G>C
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rs397509211
|
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NM_007294.4(BRCA1):c.4987-3C>G
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rs397509213
|
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NM_007294.4(BRCA1):c.4987-5T>C
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rs397509214
|
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NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)
|
rs1555579648
|
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NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5074+3A>G
|
rs80358181
|
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NM_007294.4(BRCA1):c.5074+3A>T
|
rs80358181
|
|
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)
|
rs80358345
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
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NM_007294.4(BRCA1):c.5090G>T (p.Cys1697Phe)
|
rs397507241
|
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NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp)
|
rs1597820426
|
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NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)
|
rs41293459
|
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NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)
|
rs41293459
|
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NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp)
|
rs863224763
|
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NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)
|
rs876660071
|
|
NM_007294.4(BRCA1):c.5117G>T (p.Gly1706Val)
|
rs80356860
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
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NM_007294.4(BRCA1):c.5141T>C (p.Val1714Ala)
|
rs80357243
|
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NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)
|
rs80357222
|
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NM_007294.4(BRCA1):c.5152+2dup
|
rs397509231
|
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NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
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NM_007294.4(BRCA1):c.5165C>A (p.Ser1722Tyr)
|
rs80357104
|
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NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
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NM_007294.4(BRCA1):c.5215G>A (p.Asp1739Asn)
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rs80357283
|
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NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr)
|
rs80357283
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
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NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val)
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rs80357227
|
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NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)
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rs397507245
|
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NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys)
|
rs397507245
|
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NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly)
|
rs80357123
|
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NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro)
|
rs80357442
|
|
NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro)
|
rs80357074
|
|
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)
|
rs397509246
|
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NM_007294.4(BRCA1):c.5259A>T (p.Arg1753Ser)
|
rs771577266
|
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NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)
|
rs80356905
|
|
NM_007294.4(BRCA1):c.5297T>C (p.Ile1766Thr)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)
|
rs80357463
|
|
NM_007294.4(BRCA1):c.5324T>C (p.Met1775Thr)
|
rs41293463
|
|
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5339T>A (p.Leu1780Gln)
|
rs80357474
|
|
NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg)
|
rs80357474
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)
|
rs1597801649
|
|
NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)
|
rs397509271
|
|
NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)
|
rs80357069
|
|
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)
|
rs80357078
|
|
NM_007294.4(BRCA1):c.5366C>A (p.Ala1789Asp)
|
rs2051085308
|
|
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.53T>G (p.Met18Arg)
|
rs80356929
|
|
NM_007294.4(BRCA1):c.5406+1_5406+3del
|
rs397509277
|
|
NM_007294.4(BRCA1):c.5406+4_5406+7del
|
rs1555575073
|
|
NM_007294.4(BRCA1):c.5406+5G>C
|
rs80358073
|
|
NM_007294.4(BRCA1):c.5407-2A>G
|
rs80358002
|
|
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)
|
rs80357040
|
|
NM_007294.4(BRCA1):c.5467+2T>G
|
rs80358009
|
|
NM_007294.4(BRCA1):c.5497G>T (p.Val1833Leu)
|
|
|
NM_007294.4(BRCA1):c.5498T>G (p.Val1833Gly)
|
|
|
NM_007294.4(BRCA1):c.5510_5511delinsCT (p.Trp1837Ser)
|
rs2152547868
|
|
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu)
|
rs80357107
|
|
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)
|
rs80357299
|
|
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5522G>T (p.Ser1841Ile)
|
rs80357368
|
|
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs)
|
rs886040305
|
|
NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn)
|
rs2050860958
|
|
NM_007294.4(BRCA1):c.5557T>C (p.Tyr1853His)
|
rs2050860958
|
|
NM_007294.4(BRCA1):c.5557_5569del (p.Tyr1853fs)
|
rs2050856829
|
|
NM_007294.4(BRCA1):c.5558_5561dup (p.Ile1855fs)
|
rs2050859456
|
|
NM_007294.4(BRCA1):c.5563delinsGGATCC (p.Ile1855fs)
|
rs483353103
|
|
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)
|
rs886039675
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.670+295_844del
|
rs2154490085
|
|
NM_007294.4(BRCA1):c.671-1G>C
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-215_901del
|
rs1555592870
|
|
NM_007294.4(BRCA1):c.671-2A>C
|
rs80358108
|
|
NM_007294.4(BRCA1):c.70T>A (p.Cys24Ser)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr)
|
rs1064793052
|
|
NM_007294.4(BRCA1):c.80G>C (p.Cys27Ser)
|
rs1064793052
|
|
NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe)
|
rs1064793052
|
|