NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
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.2138C>G (p.Ser713Ter)
|
rs80357233
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NC_000017.10:g.(41219713_41222944)_(41267797_41276033)del
|
|
|
NC_000017.10:g.(41228632_41234420)_(41234593_41242960)dup
|
|
|
NC_000017.10:g.(41228632_41234420)_(41251898_41256138)del
|
|
|
NC_000017.10:g.(41228632_41234420)_(41276114_?)del
|
|
|
NC_000017.10:g.(41249307_41251791)_(41251898_41256138)del
|
|
|
NC_000017.10:g.(41251852_41256215)_(41258551_41267742)del
|
|
|
NC_000017.10:g.(41258551_41267742)_(41276114_?)del
|
|
|
NC_000017.11:g.(43047704_43049120)_(43049195_43051062)del
|
|
|
NG_005905.2:g.(154652_160848)_(172307_?)del
|
|
|
NM_007294.3(BRCA1):c.457_458ins21 (p.?)
|
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter)
|
rs80356908
|
|
NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)
|
rs80356935
|
|
NM_007294.4(BRCA1):c.1072del (p.Leu358fs)
|
rs80357836
|
|
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1287del (p.Ile429fs)
|
rs1060505045
|
|
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
|
rs80357327
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)
|
rs80357150
|
|
NM_007294.4(BRCA1):c.1434_1435del (p.Glu479fs)
|
rs1060505050
|
|
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter)
|
rs80357304
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1674dup (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1695dup (p.Lys566fs)
|
rs273897664
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2019del (p.Glu673fs)
|
rs80357626
|
|
NM_007294.4(BRCA1):c.213-5T>A
|
rs886038196
|
|
NM_007294.4(BRCA1):c.2185G>T (p.Glu729Ter)
|
rs876659852
|
|
NM_007294.4(BRCA1):c.2257dup (p.Ser753fs)
|
rs1555590033
|
|
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter)
|
rs80357449
|
|
NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs)
|
rs80357820
|
|
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)
|
rs62625306
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2438dup (p.Leu814fs)
|
rs80357503
|
|
NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter)
|
rs80357003
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs)
|
rs80357605
|
|
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)
|
rs80357295
|
|
NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter)
|
rs80356973
|
|
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.3005del (p.Asn1002fs)
|
rs80357601
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)
|
rs80357647
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter)
|
rs80357106
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter)
|
rs80357018
|
|
NM_007294.4(BRCA1):c.3477_3479delinsC (p.Lys1160fs)
|
rs273899707
|
|
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)
|
rs80357296
|
|
NM_007294.4(BRCA1):c.3644_3648del (p.Asn1215fs)
|
rs1060505051
|
|
NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter)
|
rs80357162
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
|
rs80357564
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3813dup (p.Asn1272Ter)
|
rs397509108
|
|
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)
|
rs80357208
|
|
NM_007294.4(BRCA1):c.3835del (p.Ala1279fs)
|
rs1060505047
|
|
NM_007294.4(BRCA1):c.3874del (p.Ser1292fs)
|
rs587780802
|
|
NM_007294.4(BRCA1):c.3966del (p.Lys1322fs)
|
rs80357979
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
NM_007294.4(BRCA1):c.4146_4155dup (p.Ser1386fs)
|
rs483353079
|
|
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter)
|
rs80357011
|
|
NM_007294.4(BRCA1):c.445G>T (p.Glu149Ter)
|
rs876658381
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs)
|
rs80357907
|
|
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)
|
rs80357833
|
|
NM_007294.4(BRCA1):c.4972del (p.Thr1658fs)
|
rs1060505044
|
|
NM_007294.4(BRCA1):c.4986+1G>T
|
rs80358162
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter)
|
rs80356879
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5075-2A>C
|
rs80358066
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.510del (p.Ile171fs)
|
rs1060505052
|
|
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)
|
rs80356947
|
|
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser)
|
rs41293461
|
|
NM_007294.4(BRCA1):c.5193+2del
|
rs273901751
|
|
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.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
|
rs863224765
|
|
NM_007294.4(BRCA1):c.5407-2A>G
|
rs80358002
|
|
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)
|
rs1800751
|
|
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly)
|
rs80357107
|
|
NM_007294.4(BRCA1):c.5534del (p.Tyr1845fs)
|
rs1060505048
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
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.794_795del (p.Ser265fs)
|
rs80357955
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_007294.4(BRCA1):c.848T>A (p.Leu283Ter)
|
rs273902792
|
|
NM_007294.4(BRCA1):c.929del (p.Gln310fs)
|
rs80357844
|
|
Single allele
|
|
|