NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
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.1793T>G (p.Leu598Ter)
|
rs80357118
|
0.00001
|
NM_007294.4(BRCA1):c.1840A>T (p.Lys614Ter)
|
rs80357282
|
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.3286del (p.Gln1096fs)
|
rs80357533
|
0.00001
|
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)
|
rs80357509
|
0.00001
|
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)
|
rs80357134
|
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.4097-2A>G
|
rs80358019
|
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.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.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.5277G>A (p.Lys1759=)
|
rs80356854
|
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.5467+2T>C
|
rs80358009
|
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
|
NG_005905.2:g.139830_166277del
|
|
|
NM_007294.3(BRCA1):c.1637_1685del49ins5
|
|
|
NM_007294.3(BRCA1):c.2504_2505ins17 (p.?)
|
|
|
NM_007294.3(BRCA1):c.288_292delCACAGins7
|
|
|
NM_007294.3(BRCA1):c.3288_3289ins46 (p.?)
|
|
|
NM_007294.3(BRCA1):c.3516_3517ins100 (p.?)
|
|
|
NM_007294.3(BRCA1):c.3571_3572ins4
|
|
|
NM_007294.3(BRCA1):c.3671_3672ins4
|
|
|
NM_007294.3(BRCA1):c.4155_4156ins10 (p.?)
|
|
|
NM_007294.3(BRCA1):c.4338_4339ins4
|
|
|
NM_007294.3(BRCA1):c.4388_4389ins7
|
|
|
NM_007294.3(BRCA1):c.4644_4645ins8
|
|
|
NM_007294.3(BRCA1):c.5007_5008ins13 (p.?)
|
|
|
NM_007294.3(BRCA1):c.5033_5034ins4
|
|
|
NM_007294.3(BRCA1):c.5193+3_5193+15del
|
rs273901752
|
|
NM_007294.3(BRCA1):c.5232_5238delAAACCACins12 (p.?)
|
|
|
NM_007294.3(BRCA1):c.5534_5539delACCAGTins20 (p.?)
|
|
|
NM_007294.3(BRCA1):c.5563delAins6
|
|
|
NM_007294.3(BRCA1):c.625_626ins20 (p.?)
|
|
|
NM_007294.3(BRCA1):c.807_808ins11 (p.?)
|
|
|
NM_007294.3(BRCA1):c.824_825ins10 (p.?)
|
|
|
NM_007294.3(BRCA1):c.851_852ins7
|
|
|
NM_007294.4(BRCA1):c.1008dup (p.Glu337fs)
|
rs67284603
|
|
NM_007294.4(BRCA1):c.1016dup (p.Val340fs)
|
rs80357569
|
|
NM_007294.4(BRCA1):c.1018del (p.Lys339_Val340insTer)
|
rs80357774
|
|
NM_007294.4(BRCA1):c.101del (p.Pro34fs)
|
rs80357750
|
|
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.1059G>A (p.Trp353Ter)
|
rs80356935
|
|
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)
|
rs80357215
|
|
NM_007294.4(BRCA1):c.1067del (p.Gln356fs)
|
rs80357796
|
|
NM_007294.4(BRCA1):c.1072del (p.Leu358fs)
|
rs80357836
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.1086_1087del (p.Asn363fs)
|
rs80357897
|
|
NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs)
|
rs80359875
|
|
NM_007294.4(BRCA1):c.1088del (p.Asn363fs)
|
rs80357954
|
|
NM_007294.4(BRCA1):c.1101_1102insC (p.Glu368fs)
|
rs80357665
|
|
NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter)
|
rs80357139
|
|
NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)
|
rs80357468
|
|
NM_007294.4(BRCA1):c.1121_1123delinsT (p.Thr374fs)
|
rs273897652
|
|
NM_007294.4(BRCA1):c.1121del (p.Thr374fs)
|
rs80357612
|
|
NM_007294.4(BRCA1):c.1127del (p.Asn376fs)
|
rs80357821
|
|
NM_007294.4(BRCA1):c.1129dup (p.Ser377fs)
|
rs80357776
|
|
NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)
|
rs80357949
|
|
NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)
|
rs80357385
|
|
NM_007294.4(BRCA1):c.1165del (p.Ser389fs)
|
rs80357985
|
|
NM_007294.4(BRCA1):c.1166del (p.Ser389fs)
|
rs273897653
|
|
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.1193C>G (p.Ser398Ter)
|
rs80357068
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1214C>A (p.Ser405Ter)
|
rs80357481
|
|
NM_007294.4(BRCA1):c.1240_1246del (p.Leu413_Asp414insTer)
|
rs80357964
|
|
NM_007294.4(BRCA1):c.1241dup (p.Asp414fs)
|
rs80357514
|
|
NM_007294.4(BRCA1):c.124del (p.Ile42fs)
|
rs80357943
|
|
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter)
|
rs80357083
|
|
NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer)
|
rs80357535
|
|
NM_007294.4(BRCA1):c.1265dup (p.Tyr422Ter)
|
rs80357809
|
|
NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter)
|
rs80357417
|
|
NM_007294.4(BRCA1):c.1276del (p.Ser426fs)
|
rs80357766
|
|
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)
|
rs80357576
|
|
NM_007294.4(BRCA1):c.1292T>G (p.Leu431Ter)
|
rs80357346
|
|
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1297del (p.Ala433fs)
|
rs80357794
|
|
NM_007294.4(BRCA1):c.130del (p.Cys44fs)
|
rs80357951
|
|
NM_007294.4(BRCA1):c.1319del (p.Ala439_Leu440insTer)
|
rs80357683
|
|
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.1333G>T (p.Glu445Ter)
|
rs80356915
|
|
NM_007294.4(BRCA1):c.1335_1336del (p.Arg446fs)
|
rs80357978
|
|
NM_007294.4(BRCA1):c.134+1G>C
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+1G>T
|
rs80358043
|
|
NM_007294.4(BRCA1):c.134+2T>C
|
rs80358131
|
|
NM_007294.4(BRCA1):c.134+2T>G
|
rs80358131
|
|
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs)
|
rs80357597
|
|
NM_007294.4(BRCA1):c.135-1G>C
|
rs80358158
|
|
NM_007294.4(BRCA1):c.135-2A>G
|
rs80358065
|
|
NM_007294.4(BRCA1):c.1352C>A (p.Ser451Ter)
|
rs80356891
|
|
NM_007294.4(BRCA1):c.1352C>G (p.Ser451Ter)
|
rs80356891
|
|
NM_007294.4(BRCA1):c.1356del (p.Glu453fs)
|
rs80357939
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)
|
rs80357714
|
|
NM_007294.4(BRCA1):c.1383del (p.Phe461fs)
|
rs80357879
|
|
NM_007294.4(BRCA1):c.1386del (p.Thr464fs)
|
rs80357722
|
|
NM_007294.4(BRCA1):c.1387delinsGG (p.Lys463fs)
|
rs1567799822
|
|
NM_007294.4(BRCA1):c.1389_1390delinsG (p.Thr464fs)
|
rs273897659
|
|
NM_007294.4(BRCA1):c.1390del (p.Thr464fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1392dup (p.Tyr465fs)
|
rs80357592
|
|
NM_007294.4(BRCA1):c.1399A>T (p.Lys467Ter)
|
rs80357279
|
|
NM_007294.4(BRCA1):c.139dup (p.Cys47fs)
|
rs80357734
|
|
NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter)
|
rs80357490
|
|
NM_007294.4(BRCA1):c.1439dup (p.Asn480fs)
|
rs80357505
|
|
NM_007294.4(BRCA1):c.143del (p.Met48fs)
|
rs80357637
|
|
NM_007294.4(BRCA1):c.1440_1441insA (p.Leu481fs)
|
rs80357778
|
|
NM_007294.4(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer)
|
rs80357801
|
|
NM_007294.4(BRCA1):c.1444del (p.Ile482fs)
|
rs80357648
|
|
NM_007294.4(BRCA1):c.144del (p.Met48fs)
|
rs80357682
|
|
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter)
|
rs80357304
|
|
NM_007294.4(BRCA1):c.1462dup (p.Thr488fs)
|
rs80357599
|
|
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.1492del (p.Leu498fs)
|
rs80357527
|
|
NM_007294.4(BRCA1):c.1501_1504del (p.Asn500_Lys501insTer)
|
rs80357632
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1508del (p.Lys503fs)
|
rs80357506
|
|
NM_007294.4(BRCA1):c.150del (p.Lys50fs)
|
rs273897662
|
|
NM_007294.4(BRCA1):c.1510del (p.Arg504fs)
|
rs80357908
|
|
NM_007294.4(BRCA1):c.1511dup (p.Arg504_Lys505insTer)
|
rs80357817
|
|
NM_007294.4(BRCA1):c.1518del (p.Arg507fs)
|
rs80357947
|
|
NM_007294.4(BRCA1):c.1523del (p.Pro508fs)
|
rs80357782
|
|
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter)
|
rs80357427
|
|
NM_007294.4(BRCA1):c.1530del (p.Gly511fs)
|
rs80357735
|
|
NM_007294.4(BRCA1):c.1551del (p.Phe517fs)
|
rs80357630
|
|
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)
|
rs80357662
|
|
NM_007294.4(BRCA1):c.1561_1562delinsTA (p.Ala521Ter)
|
rs273897663
|
|
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter)
|
rs80356984
|
|
NM_007294.4(BRCA1):c.1583_1589del (p.Thr528fs)
|
rs80357613
|
|
NM_007294.4(BRCA1):c.1608_1611del (p.Asn537fs)
|
rs80357698
|
|
NM_007294.4(BRCA1):c.160C>T (p.Gln54Ter)
|
rs80356864
|
|
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.1636_1654del (p.Met546fs)
|
rs80359881
|
|
NM_007294.4(BRCA1):c.1649del (p.Asn550fs)
|
rs80357619
|
|
NM_007294.4(BRCA1):c.165_166dup (p.Lys56fs)
|
rs80357550
|
|
NM_007294.4(BRCA1):c.1674del (p.Gly559fs)
|
rs80357600
|
|
NM_007294.4(BRCA1):c.1695dup (p.Lys566fs)
|
rs273897664
|
|
NM_007294.4(BRCA1):c.1700dup (p.Asn567fs)
|
rs80357784
|
|
NM_007294.4(BRCA1):c.1713_1717del (p.Glu572fs)
|
rs80357640
|
|
NM_007294.4(BRCA1):c.171del (p.Pro58fs)
|
rs80357660
|
|
NM_007294.4(BRCA1):c.1729_1730del (p.Glu577fs)
|
rs80357834
|
|
NM_007294.4(BRCA1):c.1747A>T (p.Lys583Ter)
|
rs80356928
|
|
NM_007294.4(BRCA1):c.1757del (p.Pro586fs)
|
rs80357723
|
|
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.1793T>A (p.Leu598Ter)
|
rs80357118
|
|
NM_007294.4(BRCA1):c.179del (p.Gln60fs)
|
rs80357591
|
|
NM_007294.4(BRCA1):c.1812del (p.Ala605fs)
|
rs80357927
|
|
NM_007294.4(BRCA1):c.1819A>T (p.Lys607Ter)
|
rs80357220
|
|
NM_007294.4(BRCA1):c.1823_1826del (p.Lys608fs)
|
rs80357585
|
|
NM_007294.4(BRCA1):c.1826del (p.Asn609fs)
|
rs80357736
|
|
NM_007294.4(BRCA1):c.1837del (p.Arg613fs)
|
rs80357652
|
|
NM_007294.4(BRCA1):c.1870G>T (p.Glu624Ter)
|
rs80356950
|
|
NM_007294.4(BRCA1):c.1874_1877dup (p.Val627fs)
|
rs80357516
|
|
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.1892dup (p.Ser632fs)
|
rs80357932
|
|
NM_007294.4(BRCA1):c.1893_1894insT (p.Ser632Ter)
|
rs80357768
|
|
NM_007294.4(BRCA1):c.1898del (p.Pro633fs)
|
rs80357851
|
|
NM_007294.4(BRCA1):c.189dup (p.Cys64fs)
|
rs273897665
|
|
NM_007294.4(BRCA1):c.1912G>T (p.Glu638Ter)
|
rs80357005
|
|
NM_007294.4(BRCA1):c.1912del (p.Glu638fs)
|
rs80357933
|
|
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.1945G>T (p.Glu649Ter)
|
rs80356907
|
|
NM_007294.4(BRCA1):c.1952dup (p.Lys652fs)
|
rs80357885
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.1953dup (p.Lys652fs)
|
rs80357753
|
|
NM_007294.4(BRCA1):c.195del (p.Asn66fs)
|
rs80357869
|
|
NM_007294.4(BRCA1):c.1960_1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1996del (p.Leu666fs)
|
rs80357922
|
|
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter)
|
rs80356889
|
|
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.2001dup (p.Leu668fs)
|
rs80357521
|
|
NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter)
|
rs80357391
|
|
NM_007294.4(BRCA1):c.2017del (p.Glu673fs)
|
rs80357638
|
|
NM_007294.4(BRCA1):c.2019del (p.Glu673fs)
|
rs80357626
|
|
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)
|
rs80357082
|
|
NM_007294.4(BRCA1):c.2038_2039insCC (p.Lys680fs)
|
rs80357940
|
|
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)
|
rs273898674
|
|
NM_007294.4(BRCA1):c.205dup (p.Thr69fs)
|
rs273898673
|
|
NM_007294.4(BRCA1):c.2070_2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2074del (p.His692fs)
|
rs80357554
|
|
NM_007294.4(BRCA1):c.2077_2078insTA (p.Asp693fs)
|
rs80357595
|
|
NM_007294.4(BRCA1):c.2079_2080del (p.Asp693fs)
|
rs80357773
|
|
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)
|
rs80357298
|
|
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)
|
rs80357880
|
|
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)
|
rs80357814
|
|
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>C
|
rs80358042
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
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.212G>A (p.Arg71Lys)
|
rs80356913
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.213-1G>A
|
rs80358146
|
|
NM_007294.4(BRCA1):c.213-3C>G
|
rs80358119
|
|
NM_007294.4(BRCA1):c.2142del (p.Asn714fs)
|
rs273898679
|
|
NM_007294.4(BRCA1):c.2157dup (p.Glu720fs)
|
rs80357715
|
|
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)
|
rs80356875
|
|
NM_007294.4(BRCA1):c.2176del (p.Leu726fs)
|
rs80357668
|
|
NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter)
|
rs80357058
|
|
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs)
|
rs273898681
|
|
NM_007294.4(BRCA1):c.2188dup (p.Glu730fs)
|
rs80357566
|
|
NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter)
|
rs80357426
|
|
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)
|
rs80357507
|
|
NM_007294.4(BRCA1):c.2199del (p.Lys734fs)
|
rs80357944
|
|
NM_007294.4(BRCA1):c.2202del (p.Lys734fs)
|
rs80357982
|
|
NM_007294.4(BRCA1):c.2203del (p.Lys734_Leu735insTer)
|
rs80357936
|
|
NM_007294.4(BRCA1):c.2206del (p.Glu736fs)
|
rs80357860
|
|
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter)
|
rs80357234
|
|
NM_007294.4(BRCA1):c.2210_2211del (p.Thr737fs)
|
rs80357654
|
|
NM_007294.4(BRCA1):c.2210del (p.Thr737fs)
|
rs80357793
|
|
NM_007294.4(BRCA1):c.2214del (p.Val740fs)
|
rs80357574
|
|
NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter)
|
rs56329598
|
|
NM_007294.4(BRCA1):c.2215_2216insCT (p.Lys739fs)
|
rs80357930
|
|
NM_007294.4(BRCA1):c.2217dup (p.Val740fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2236dup (p.Asp746fs)
|
rs80357909
|
|
NM_007294.4(BRCA1):c.2241del (p.Asp749fs)
|
rs80357650
|
|
NM_007294.4(BRCA1):c.224_227del (p.Glu75fs)
|
rs80357697
|
|
NM_007294.4(BRCA1):c.2253_2254del (p.Met751fs)
|
rs80357602
|
|
NM_007294.4(BRCA1):c.2255_2256dup (p.Ser753Ter)
|
rs80357557
|
|
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)
|
rs41286296
|
|
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
|
rs80357960
|
|
NM_007294.4(BRCA1):c.2269del (p.Val757fs)
|
rs80357583
|
|
NM_007294.4(BRCA1):c.2273dup (p.Leu758fs)
|
rs80357681
|
|
NM_007294.4(BRCA1):c.2275C>T (p.Gln759Ter)
|
rs80356999
|
|
NM_007294.4(BRCA1):c.2283_2284del (p.Arg762fs)
|
rs80357657
|
|
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.2309C>T (p.Ser770Leu)
|
rs80357063
|
|
NM_007294.4(BRCA1):c.2314del (p.Val772fs)
|
rs80357957
|
|
NM_007294.4(BRCA1):c.2329del (p.Tyr777fs)
|
rs80357725
|
|
NM_007294.4(BRCA1):c.232del (p.Arg78fs)
|
rs80357884
|
|
NM_007294.4(BRCA1):c.2331T>A (p.Tyr777Ter)
|
rs80357444
|
|
NM_007294.4(BRCA1):c.2337_2338del (p.Gln780fs)
|
rs80357515
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2351_2357del (p.Ser784fs)
|
rs80357820
|
|
NM_007294.4(BRCA1):c.2355dup (p.Leu786fs)
|
rs80357990
|
|
NM_007294.4(BRCA1):c.2359dup (p.Glu787fs)
|
rs80357739
|
|
NM_007294.4(BRCA1):c.2376del (p.Lys793fs)
|
rs80357913
|
|
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.2390_2391del (p.Glu797fs)
|
rs80357546
|
|
NM_007294.4(BRCA1):c.2393del (p.Pro798fs)
|
rs80357850
|
|
NM_007294.4(BRCA1):c.2403T>A (p.Cys801Ter)
|
rs80357381
|
|
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
|
rs80357706
|
|
NM_007294.4(BRCA1):c.2406_2409del (p.Gln804fs)
|
rs80357674
|
|
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.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter)
|
rs80357186
|
|
NM_007294.4(BRCA1):c.2438dup (p.Leu814fs)
|
rs80357503
|
|
NM_007294.4(BRCA1):c.2443del (p.Ile815fs)
|
rs80357598
|
|
NM_007294.4(BRCA1):c.2450del (p.Gly817fs)
|
rs80357679
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.2468del (p.Arg823fs)
|
rs80357799
|
|
NM_007294.4(BRCA1):c.2474dup (p.Asp825fs)
|
rs80357830
|
|
NM_007294.4(BRCA1):c.2476del (p.Thr826fs)
|
rs80357631
|
|
NM_007294.4(BRCA1):c.2477_2478del (p.Thr826fs)
|
rs80357800
|
|
NM_007294.4(BRCA1):c.2477del (p.Thr826fs)
|
rs80357740
|
|
NM_007294.4(BRCA1):c.2487del (p.Phe829fs)
|
rs80357658
|
|
NM_007294.4(BRCA1):c.2488_2497dup (p.Leu833Ter)
|
rs397508973
|
|
NM_007294.4(BRCA1):c.2513del (p.Asn838fs)
|
rs80357863
|
|
NM_007294.4(BRCA1):c.2515del (p.His839fs)
|
rs80357607
|
|
NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter)
|
rs80356951
|
|
NM_007294.4(BRCA1):c.2558dup (p.Asp853fs)
|
rs80357835
|
|
NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs)
|
rs80357968
|
|
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)
|
rs80357131
|
|
NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter)
|
rs80356832
|
|
NM_007294.4(BRCA1):c.2586_2593del (p.Val863fs)
|
rs80357675
|
|
NM_007294.4(BRCA1):c.2594del (p.Lys865fs)
|
rs80357756
|
|
NM_007294.4(BRCA1):c.2601_2604dup (p.Phe869fs)
|
rs80357603
|
|
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)
|
rs80356925
|
|
NM_007294.4(BRCA1):c.2611_2612del (p.Pro871fs)
|
rs80357962
|
|
NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs)
|
rs80357948
|
|
NM_007294.4(BRCA1):c.2617dup (p.Ser873fs)
|
rs80357912
|
|
NM_007294.4(BRCA1):c.2646_2648del (p.Cys882_Ala883delinsTer)
|
rs80357513
|
|
NM_007294.4(BRCA1):c.2658_2659insA (p.Ala887fs)
|
rs80357541
|
|
NM_007294.4(BRCA1):c.2670del (p.Ser891fs)
|
rs80357659
|
|
NM_007294.4(BRCA1):c.2675_2678del (p.Ser891_Leu892insTer)
|
rs80357518
|
|
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.2686del (p.Ser896fs)
|
rs80357636
|
|
NM_007294.4(BRCA1):c.2694dup (p.Val899fs)
|
rs80357549
|
|
NM_007294.4(BRCA1):c.269_281del (p.Ile90fs)
|
rs80359879
|
|
NM_007294.4(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer)
|
rs80357899
|
|
NM_007294.4(BRCA1):c.2709del (p.Cys903fs)
|
rs80357594
|
|
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.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.2726_2730del (p.Asn909fs)
|
rs80357712
|
|
NM_007294.4(BRCA1):c.2726del (p.Asn909fs)
|
rs80357614
|
|
NM_007294.4(BRCA1):c.2726dup (p.Asn909fs)
|
rs80357614
|
|
NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs)
|
rs80357605
|
|
NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter)
|
rs80357419
|
|
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)
|
rs80357540
|
|
NM_007294.4(BRCA1):c.2749dup (p.Ile917fs)
|
rs80357942
|
|
NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)
|
rs80357377
|
|
NM_007294.4(BRCA1):c.2762del (p.Gln921fs)
|
rs80357703
|
|
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs)
|
rs80357822
|
|
NM_007294.4(BRCA1):c.2766del (p.Val923fs)
|
rs80357812
|
|
NM_007294.4(BRCA1):c.2767_2770del (p.Val923fs)
|
rs80357661
|
|
NM_007294.4(BRCA1):c.2796_2799del (p.Gly933fs)
|
rs80357840
|
|
NM_007294.4(BRCA1):c.2799del (p.Gln934fs)
|
rs80357998
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.2805del (p.Asp936fs)
|
rs397509012
|
|
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)
|
rs80357832
|
|
NM_007294.4(BRCA1):c.2812_2813delinsG (p.Pro938fs)
|
rs273899689
|
|
NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter)
|
rs80357458
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
NM_007294.4(BRCA1):c.2835dup (p.Ile946fs)
|
rs80357519
|
|
NM_007294.4(BRCA1):c.2840_2841del (p.Lys947fs)
|
rs80357984
|
|
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.2868del (p.Gln957fs)
|
rs80357929
|
|
NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter)
|
rs80356973
|
|
NM_007294.4(BRCA1):c.2871_2872insA (p.Phe958fs)
|
rs80357693
|
|
NM_007294.4(BRCA1):c.2887del (p.Thr963fs)
|
rs80357559
|
|
NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs)
|
rs80357890
|
|
NM_007294.4(BRCA1):c.290_291del (p.Thr97fs)
|
rs80357738
|
|
NM_007294.4(BRCA1):c.2910del (p.Lys970fs)
|
rs80357893
|
|
NM_007294.4(BRCA1):c.2915del (p.Gly972fs)
|
rs80357573
|
|
NM_007294.4(BRCA1):c.2920_2921del (p.Leu974fs)
|
rs80357611
|
|
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.2980del (p.Cys994fs)
|
rs80357502
|
|
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>C (p.Met1Thr)
|
rs80357111
|
|
NM_007294.4(BRCA1):c.2T>G (p.Met1Arg)
|
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.301+2dup
|
rs273899694
|
|
NM_007294.4(BRCA1):c.3013del (p.Glu1005fs)
|
rs80357937
|
|
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)
|
rs80357749
|
|
NM_007294.4(BRCA1):c.302-1G>A
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1G>T
|
rs80358116
|
|
NM_007294.4(BRCA1):c.302-1_302del
|
rs483353093
|
|
NM_007294.4(BRCA1):c.302-2A>C
|
rs80358011
|
|
NM_007294.4(BRCA1):c.302-2A>T
|
rs80358011
|
|
NM_007294.4(BRCA1):c.302-3C>G
|
rs80358051
|
|
NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter)
|
rs80357168
|
|
NM_007294.4(BRCA1):c.3026C>A (p.Ser1009Ter)
|
rs273899696
|
|
NM_007294.4(BRCA1):c.3029_3030del (p.Pro1010fs)
|
rs80357510
|
|
NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter)
|
rs80356936
|
|
NM_007294.4(BRCA1):c.3044dup (p.Asn1016fs)
|
rs80357746
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)
|
rs80357004
|
|
NM_007294.4(BRCA1):c.3053_3054insTGAGA (p.Ile1019fs)
|
rs80357547
|
|
NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs)
|
rs80357647
|
|
NM_007294.4(BRCA1):c.3087_3100dup (p.Asn1034fs)
|
rs80357967
|
|
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter)
|
rs273899698
|
|
NM_007294.4(BRCA1):c.3107_3112del (p.Phe1036_Glu1038delinsTer)
|
rs80357920
|
|
NM_007294.4(BRCA1):c.3108del (p.Phe1036fs)
|
rs80357841
|
|
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter)
|
rs80357841
|
|
NM_007294.4(BRCA1):c.3114_3117delinsGA (p.Ala1039fs)
|
rs273899700
|
|
NM_007294.4(BRCA1):c.3158_3159insG (p.Val1054fs)
|
rs80357769
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
NM_007294.4(BRCA1):c.317del (p.Asn106fs)
|
rs80357950
|
|
NM_007294.4(BRCA1):c.3181del (p.Glu1060_Ile1061insTer)
|
rs80357702
|
|
NM_007294.4(BRCA1):c.3188_3189delinsG (p.Gly1062_Ser1063insTer)
|
rs273899701
|
|
NM_007294.4(BRCA1):c.3193dup (p.Asp1065fs)
|
rs80357511
|
|
NM_007294.4(BRCA1):c.3194_3195insG (p.Asp1065fs)
|
rs80357883
|
|
NM_007294.4(BRCA1):c.321del (p.Phe107fs)
|
rs80357544
|
|
NM_007294.4(BRCA1):c.3226del (p.Arg1076fs)
|
rs273899703
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3239T>A (p.Leu1080Ter)
|
rs80357145
|
|
NM_007294.4(BRCA1):c.3253dup (p.Arg1085fs)
|
rs80357517
|
|
NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs)
|
rs80357624
|
|
NM_007294.4(BRCA1):c.3255dup (p.Leu1086fs)
|
rs1555588090
|
|
NM_007294.4(BRCA1):c.3256_3257insGA (p.Leu1086Ter)
|
rs80357764
|
|
NM_007294.4(BRCA1):c.3257T>A (p.Leu1086Ter)
|
rs80357006
|
|
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)
|
rs80357006
|
|
NM_007294.4(BRCA1):c.3257dup (p.Leu1086fs)
|
rs80357858
|
|
NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter)
|
rs80357402
|
|
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs)
|
rs397509050
|
|
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
|
rs80357485
|
|
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.3292_3293del (p.Leu1098fs)
|
rs80357992
|
|
NM_007294.4(BRCA1):c.3296del (p.Pro1099fs)
|
rs80357815
|
|
NM_007294.4(BRCA1):c.329_330del (p.Lys110fs)
|
rs80357754
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.32_33insC (p.Gln12fs)
|
rs80357811
|
|
NM_007294.4(BRCA1):c.3309T>A (p.Cys1103Ter)
|
rs80357317
|
|
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter)
|
rs80357106
|
|
NM_007294.4(BRCA1):c.3323_3326del (p.Ile1108fs)
|
rs80357763
|
|
NM_007294.4(BRCA1):c.3325_3329del (p.Lys1109fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3326_3329del (p.Lys1109fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3329_3330del (p.Lys1110fs)
|
rs80357525
|
|
NM_007294.4(BRCA1):c.3329dup (p.Gln1111fs)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3330_3331insA (p.Gln1111fs)
|
rs80357996
|
|
NM_007294.4(BRCA1):c.3331C>T (p.Gln1111Ter)
|
rs80357089
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs)
|
rs80357966
|
|
NM_007294.4(BRCA1):c.3339T>G (p.Tyr1113Ter)
|
rs80357421
|
|
NM_007294.4(BRCA1):c.3340G>T (p.Glu1114Ter)
|
rs80357278
|
|
NM_007294.4(BRCA1):c.3343del (p.Glu1115fs)
|
rs273899705
|
|
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs)
|
rs80357785
|
|
NM_007294.4(BRCA1):c.3357del (p.Val1120fs)
|
rs80357827
|
|
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.3362del (p.Asn1121fs)
|
rs80357865
|
|
NM_007294.4(BRCA1):c.3365_3366del (p.Thr1122fs)
|
rs80357892
|
|
NM_007294.4(BRCA1):c.3375_3376del (p.Pro1126fs)
|
rs80357828
|
|
NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter)
|
rs80357405
|
|
NM_007294.4(BRCA1):c.3390del (p.Asp1131fs)
|
rs80357900
|
|
NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs)
|
rs80357577
|
|
NM_007294.4(BRCA1):c.3398T>A (p.Leu1133Ter)
|
rs80356971
|
|
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.3417del (p.Ser1139fs)
|
rs273899706
|
|
NM_007294.4(BRCA1):c.342_343del (p.Ser114_Pro115insTer)
|
rs80357881
|
|
NM_007294.4(BRCA1):c.3430C>T (p.Gln1144Ter)
|
rs80357369
|
|
NM_007294.4(BRCA1):c.3442del (p.Glu1148fs)
|
rs80357808
|
|
NM_007294.4(BRCA1):c.3462dup (p.Asp1155fs)
|
rs80357857
|
|
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.3531del (p.Phe1177fs)
|
rs80357621
|
|
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)
|
rs80357296
|
|
NM_007294.4(BRCA1):c.3548_3549del (p.Lys1183fs)
|
rs80357956
|
|
NM_007294.4(BRCA1):c.3549_3550delinsT (p.Lys1183fs)
|
rs273899709
|
|
NM_007294.4(BRCA1):c.3569_3570del (p.Pro1190fs)
|
rs80357845
|
|
NM_007294.4(BRCA1):c.3580del (p.Thr1194fs)
|
rs80357663
|
|
NM_007294.4(BRCA1):c.3583del (p.His1195fs)
|
rs273900710
|
|
NM_007294.4(BRCA1):c.3586dup (p.Thr1196fs)
|
rs80357531
|
|
NM_007294.4(BRCA1):c.3592_3593dup (p.Leu1198fs)
|
rs80357562
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs)
|
rs80357980
|
|
NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter)
|
rs80357455
|
|
NM_007294.4(BRCA1):c.3620dup (p.Lys1208fs)
|
rs80357926
|
|
NM_007294.4(BRCA1):c.3624dup (p.Leu1209fs)
|
rs80357512
|
|
NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer)
|
rs80357571
|
|
NM_007294.4(BRCA1):c.3629_3630del (p.Glu1210fs)
|
rs80357589
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs)
|
rs80357805
|
|
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)
|
rs80357902
|
|
NM_007294.4(BRCA1):c.3649_3650insA (p.Ser1217fs)
|
rs80357831
|
|
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.3668_3671dup (p.Cys1225fs)
|
rs80357797
|
|
NM_007294.4(BRCA1):c.3676_3679del (p.Phe1226fs)
|
rs80357671
|
|
NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter)
|
rs80357162
|
|
NM_007294.4(BRCA1):c.3699del (p.Lys1233_Val1234insTer)
|
rs80357873
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3706_3707del (p.Asn1236fs)
|
rs80357666
|
|
NM_007294.4(BRCA1):c.3706_3713del (p.Asn1236fs)
|
rs80357552
|
|
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs)
|
rs80357564
|
|
NM_007294.4(BRCA1):c.3715_3717delinsC (p.Ser1239fs)
|
rs273900714
|
|
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)
|
rs80356903
|
|
NM_007294.4(BRCA1):c.3722_3740del (p.Ser1241fs)
|
rs80359882
|
|
NM_007294.4(BRCA1):c.3736del (p.Thr1246fs)
|
rs80357578
|
|
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.3759dup (p.Lys1254Ter)
|
rs80357687
|
|
NM_007294.4(BRCA1):c.3760_3761insT (p.Lys1254fs)
|
rs80357986
|
|
NM_007294.4(BRCA1):c.3761_3762insTT (p.Lys1254fs)
|
rs80357928
|
|
NM_007294.4(BRCA1):c.3762_3763del (p.Asn1255fs)
|
rs80357645
|
|
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs)
|
rs80357848
|
|
NM_007294.4(BRCA1):c.3766dup (p.Thr1256fs)
|
rs80357704
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3771_3772del (p.Asn1259fs)
|
rs80357810
|
|
NM_007294.4(BRCA1):c.3778_3779insA (p.Leu1260fs)
|
rs80357849
|
|
NM_007294.4(BRCA1):c.3779del (p.Leu1260fs)
|
rs80357798
|
|
NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)
|
rs80357545
|
|
NM_007294.4(BRCA1):c.3785C>A (p.Ser1262Ter)
|
rs80357269
|
|
NM_007294.4(BRCA1):c.3794del (p.Asn1265fs)
|
rs80357767
|
|
NM_007294.4(BRCA1):c.37_40del (p.Asn13fs)
|
rs80357530
|
|
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)
|
rs80357208
|
|
NM_007294.4(BRCA1):c.3820dup (p.Val1274fs)
|
rs80357616
|
|
NM_007294.4(BRCA1):c.3830dup (p.Ala1279fs)
|
rs80357878
|
|
NM_007294.4(BRCA1):c.3839_3843delinsAGGC (p.Ser1280_Gln1281delinsTer)
|
rs273900717
|
|
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)
|
rs80356866
|
|
NM_007294.4(BRCA1):c.3841_3842del (p.Gln1281fs)
|
rs80357584
|
|
NM_007294.4(BRCA1):c.3856del (p.Ser1286fs)
|
rs80357855
|
|
NM_007294.4(BRCA1):c.3858_3861del (p.Ser1286fs)
|
rs80357842
|
|
NM_007294.4(BRCA1):c.3862del (p.Glu1288fs)
|
rs273900718
|
|
NM_007294.4(BRCA1):c.3867_3871del (p.Lys1290fs)
|
rs80357560
|
|
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)
|
rs80357254
|
|
NM_007294.4(BRCA1):c.3869_3870del (p.Lys1290fs)
|
rs80357918
|
|
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)
|
rs80357440
|
|
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)
|
rs80357038
|
|
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.3908dup (p.Leu1303fs)
|
rs80357634
|
|
NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)
|
rs80356888
|
|
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)
|
rs80357678
|
|
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)
|
rs80357207
|
|
NM_007294.4(BRCA1):c.3931_3934del (p.Asn1311fs)
|
rs80357864
|
|
NM_007294.4(BRCA1):c.3932del (p.Asn1311fs)
|
rs80357504
|
|
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)
|
rs80357318
|
|
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)
|
rs80357343
|
|
NM_007294.4(BRCA1):c.3966del (p.Lys1322fs)
|
rs80357979
|
|
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)
|
rs80357262
|
|
NM_007294.4(BRCA1):c.3972del (p.Met1324fs)
|
rs80357987
|
|
NM_007294.4(BRCA1):c.3973del (p.Arg1325fs)
|
rs80357904
|
|
NM_007294.4(BRCA1):c.399_400del (p.Ala134fs)
|
rs80357568
|
|
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)
|
rs80357475
|
|
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_4039del (p.Gly1348fs)
|
rs273900721
|
|
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs)
|
rs80357727
|
|
NM_007294.4(BRCA1):c.4052dup (p.Leu1351fs)
|
rs80357779
|
|
NM_007294.4(BRCA1):c.4057G>T (p.Glu1353Ter)
|
rs80357178
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.406dup (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.4075C>T (p.Gln1359Ter)
|
rs80357456
|
|
NM_007294.4(BRCA1):c.4085del (p.Asp1362fs)
|
rs80357737
|
|
NM_007294.4(BRCA1):c.4097-1G>A
|
rs80358070
|
|
NM_007294.4(BRCA1):c.4110_4111del (p.Gly1371fs)
|
rs80357529
|
|
NM_007294.4(BRCA1):c.4111_4112insATCT (p.Gly1371fs)
|
rs80357935
|
|
NM_007294.4(BRCA1):c.4113del (p.Cys1372fs)
|
rs80357861
|
|
NM_007294.4(BRCA1):c.4116_4117del (p.Cys1372_Glu1373delinsTer)
|
rs80357804
|
|
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.4122_4123del (p.Ser1374fs)
|
rs80357691
|
|
NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter)
|
rs80357397
|
|
NM_007294.4(BRCA1):c.4128_4129del (p.Ser1377fs)
|
rs80357921
|
|
NM_007294.4(BRCA1):c.412_418del (p.Leu138fs)
|
rs80357816
|
|
NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)
|
rs80357071
|
|
NM_007294.4(BRCA1):c.415C>T (p.Gln139Ter)
|
rs80357372
|
|
NM_007294.4(BRCA1):c.4161_4162del (p.Gln1388fs)
|
rs80357565
|
|
NM_007294.4(BRCA1):c.4163_4166del (p.Gln1388fs)
|
rs80357532
|
|
NM_007294.4(BRCA1):c.4163dup (p.Ser1389fs)
|
rs80357788
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
NM_007294.4(BRCA1):c.4167_4168insAG (p.Asp1390fs)
|
rs80357847
|
|
NM_007294.4(BRCA1):c.4167_4170del (p.Ser1389fs)
|
rs80357538
|
|
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+2_4185+22delinsA
|
rs273900724
|
|
NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4186-1643_4357+2020del
|
|
|
NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter)
|
rs80357011
|
|
NM_007294.4(BRCA1):c.4195_4196del (p.Thr1399fs)
|
rs80357649
|
|
NM_007294.4(BRCA1):c.4210del (p.Asn1403_Leu1404insTer)
|
rs80357765
|
|
NM_007294.4(BRCA1):c.4214del (p.Ile1405fs)
|
rs273900728
|
|
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.4285_4286insG (p.Tyr1429Ter)
|
rs80357716
|
|
NM_007294.4(BRCA1):c.4289dup (p.Ser1431fs)
|
rs80357556
|
|
NM_007294.4(BRCA1):c.4300dup (p.Ser1434fs)
|
rs80357790
|
|
NM_007294.4(BRCA1):c.4321dup (p.Asp1441fs)
|
rs80357748
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4331_4338del (p.Asn1444fs)
|
rs80357825
|
|
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter)
|
rs80357067
|
|
NM_007294.4(BRCA1):c.4348dup (p.Ser1450fs)
|
rs80357548
|
|
NM_007294.4(BRCA1):c.4357+1G>C
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4357+1G>T
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4357+2T>G
|
rs80358152
|
|
NM_007294.4(BRCA1):c.4370C>G (p.Ser1457Ter)
|
rs80357130
|
|
NM_007294.4(BRCA1):c.4373_4389del (p.Gln1458fs)
|
rs80359885
|
|
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.4391_4403delinsTT (p.Pro1464fs)
|
rs273900731
|
|
NM_007294.4(BRCA1):c.4391del (p.Pro1464fs)
|
rs80357916
|
|
NM_007294.4(BRCA1):c.442-2A>C
|
rs80358155
|
|
NM_007294.4(BRCA1):c.4463dup (p.Asn1488fs)
|
rs80357620
|
|
NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter)
|
rs80357148
|
|
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>A (p.Arg1495Lys)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4485-2A>G
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter)
|
rs80356953
|
|
NM_007294.4(BRCA1):c.4487C>G (p.Ser1496Ter)
|
rs80356953
|
|
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs)
|
rs273900736
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs)
|
rs80357534
|
|
NM_007294.4(BRCA1):c.4552C>T (p.Gln1518Ter)
|
rs80356881
|
|
NM_007294.4(BRCA1):c.456_457del (p.Ser153fs)
|
rs80357882
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.4595_4596insCT (p.Asp1533fs)
|
rs80357699
|
|
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)
|
rs80357229
|
|
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.4618G>T (p.Glu1540Ter)
|
rs80357277
|
|
NM_007294.4(BRCA1):c.4621G>T (p.Glu1541Ter)
|
rs80357248
|
|
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)
|
rs80357542
|
|
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)
|
rs80357561
|
|
NM_007294.4(BRCA1):c.465del (p.Gln155fs)
|
rs1555594954
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+3A>T
|
rs80358082
|
|
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)
|
rs80356988
|
|
NM_007294.4(BRCA1):c.4676-1G>A
|
rs80358008
|
|
NM_007294.4(BRCA1):c.4676-2A>G
|
rs80358096
|
|
NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter)
|
rs80357349
|
|
NM_007294.4(BRCA1):c.4696_4697insA (p.Ser1566fs)
|
rs483353095
|
|
NM_007294.4(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer)
|
rs80357718
|
|
NM_007294.4(BRCA1):c.4745del (p.Asp1582fs)
|
rs80357907
|
|
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.4764_4765del (p.Arg1589fs)
|
rs80357795
|
|
NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)
|
rs80357303
|
|
NM_007294.4(BRCA1):c.4810C>T (p.Gln1604Ter)
|
rs80357352
|
|
NM_007294.4(BRCA1):c.4843dup (p.Ala1615fs)
|
rs80357615
|
|
NM_007294.4(BRCA1):c.485_486del (p.Val162fs)
|
rs80357708
|
|
NM_007294.4(BRCA1):c.4891dup (p.Ser1631fs)
|
rs80357656
|
|
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs)
|
rs80357833
|
|
NM_007294.4(BRCA1):c.4936del (p.Val1646fs)
|
rs80357653
|
|
NM_007294.4(BRCA1):c.493del (p.Thr164_Leu165insTer)
|
rs80357551
|
|
NM_007294.4(BRCA1):c.4941del (p.Asn1647fs)
|
rs80357905
|
|
NM_007294.4(BRCA1):c.4944_4945del (p.Arg1649fs)
|
rs80357655
|
|
NM_007294.4(BRCA1):c.4945del (p.Arg1649fs)
|
rs80357655
|
|
NM_007294.4(BRCA1):c.494dup (p.Arg166fs)
|
rs80357762
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4966_4984del (p.Gly1656fs)
|
rs80359884
|
|
NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter)
|
rs80357401
|
|
NM_007294.4(BRCA1):c.4986+1G>A
|
rs80358162
|
|
NM_007294.4(BRCA1):c.4986+3G>C
|
rs80358023
|
|
NM_007294.4(BRCA1):c.4986+4A>C
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4986+4A>T
|
rs80358087
|
|
NM_007294.4(BRCA1):c.4987-1=
|
rs730881495
|
|
NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter)
|
rs80357204
|
|
NM_007294.4(BRCA1):c.5005del (p.Ala1669fs)
|
rs80357938
|
|
NM_007294.4(BRCA1):c.5026_5036del (p.Leu1676fs)
|
rs80357894
|
|
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.5040del (p.Thr1681fs)
|
rs80357673
|
|
NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter)
|
rs80356879
|
|
NM_007294.4(BRCA1):c.5056dup (p.His1686fs)
|
rs80357974
|
|
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)
|
rs80357133
|
|
NM_007294.4(BRCA1):c.5071dup (p.Thr1691fs)
|
rs80357672
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+1G>T
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5074G>T (p.Asp1692Tyr)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5075-1G>A
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-1G>C
|
rs1800747
|
|
NM_007294.4(BRCA1):c.5075-2A>C
|
rs80358066
|
|
NM_007294.4(BRCA1):c.5075-2A>T
|
rs80358066
|
|
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)
|
rs80356896
|
|
NM_007294.4(BRCA1):c.5084_5085del (p.Phe1695fs)
|
rs80357760
|
|
NM_007294.4(BRCA1):c.5091_5092del (p.Cys1697_Glu1698delinsTer)
|
rs80357710
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5098del (p.Thr1700fs)
|
rs483353099
|
|
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)
|
rs80357608
|
|
NM_007294.4(BRCA1):c.5106del (p.Lys1702fs)
|
rs80357553
|
|
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.5126del (p.Gly1709fs)
|
rs80357874
|
|
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.5145del (p.Tyr1716fs)
|
rs80357870
|
|
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)
|
rs80356947
|
|
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs)
|
rs80357720
|
|
NM_007294.4(BRCA1):c.5152+1G>A
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>C
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+1G>T
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5152+3A>C
|
rs80358124
|
|
NM_007294.4(BRCA1):c.5152+3_5152+4insT
|
rs273901744
|
|
NM_007294.4(BRCA1):c.5153-1G>A
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-1G>C
|
rs80358137
|
|
NM_007294.4(BRCA1):c.5153-2del
|
rs273901746
|
|
NM_007294.4(BRCA1):c.5153G>A (p.Trp1718Ter)
|
rs41293461
|
|
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5156_5157del (p.Val1719fs)
|
rs80357895
|
|
NM_007294.4(BRCA1):c.5173G>T (p.Glu1725Ter)
|
rs80357291
|
|
NM_007294.4(BRCA1):c.5177_5178del (p.Arg1726fs)
|
rs80357730
|
|
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+1G>C
|
rs80358004
|
|
NM_007294.4(BRCA1):c.5193+2del
|
rs273901751
|
|
NM_007294.4(BRCA1):c.5194-1G>A
|
rs80358173
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5209A>T (p.Arg1737Ter)
|
rs80357496
|
|
NM_007294.4(BRCA1):c.5209_5248delinsTC (p.Arg1737fs)
|
rs273901753
|
|
NM_007294.4(BRCA1):c.520del (p.Gln174fs)
|
rs80357639
|
|
NM_007294.4(BRCA1):c.5229_5230del (p.Arg1744fs)
|
rs80357852
|
|
NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter)
|
rs80357367
|
|
NM_007294.4(BRCA1):c.5241del (p.Gly1748fs)
|
rs80357791
|
|
NM_007294.4(BRCA1):c.5243del (p.Gly1748fs)
|
rs80357676
|
|
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.5271_5277del (p.Asp1757fs)
|
rs1567764182
|
|
NM_007294.4(BRCA1):c.5276del (p.Lys1759fs)
|
rs80357732
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5277+1_5277+6del
|
rs1060502356
|
|
NM_007294.4(BRCA1):c.5277+1del
|
rs273901754
|
|
NM_007294.4(BRCA1):c.5278-1G>A
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5278-1G>T
|
rs80358099
|
|
NM_007294.4(BRCA1):c.5284del (p.Arg1762fs)
|
rs80357684
|
|
NM_007294.4(BRCA1):c.5289dup (p.Leu1764fs)
|
rs80357886
|
|
NM_007294.4(BRCA1):c.529del (p.Ser177fs)
|
rs80357758
|
|
NM_007294.4(BRCA1):c.5304del (p.Tyr1769fs)
|
rs80357959
|
|
NM_007294.4(BRCA1):c.5310del (p.Phe1772fs)
|
rs80357581
|
|
NM_007294.4(BRCA1):c.5311_5332+1del
|
rs886040916
|
|
NM_007294.4(BRCA1):c.5319dup (p.Asn1774fs)
|
rs80357823
|
|
NM_007294.4(BRCA1):c.5320_5321del (p.Asn1774fs)
|
rs80357818
|
|
NM_007294.4(BRCA1):c.5328dup (p.Thr1777fs)
|
rs80357751
|
|
NM_007294.4(BRCA1):c.5332+1G>A
|
rs80358041
|
|
NM_007294.4(BRCA1):c.5332+2T>A
|
rs80358182
|
|
NM_007294.4(BRCA1):c.5333-1G>C
|
rs80358126
|
|
NM_007294.4(BRCA1):c.5333-36_5406+400del
|
rs1555574977
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
NM_007294.4(BRCA1):c.5341del (p.Glu1781fs)
|
rs80357694
|
|
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.5352dup (p.Gln1785fs)
|
rs80357744
|
|
NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)
|
rs80356969
|
|
NM_007294.4(BRCA1):c.5370_5397del (p.Val1791fs)
|
rs80359878
|
|
NM_007294.4(BRCA1):c.5386dup (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+2del
|
rs273901765
|
|
NM_007294.4(BRCA1):c.5407-1G>A
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5407-1G>C
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5407-2A>G
|
rs80358002
|
|
NM_007294.4(BRCA1):c.5407-2A>T
|
rs80358002
|
|
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs)
|
rs80357558
|
|
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs)
|
rs80357934
|
|
NM_007294.4(BRCA1):c.5440del (p.Ala1814fs)
|
rs80357946
|
|
NM_007294.4(BRCA1):c.5449G>T (p.Glu1817Ter)
|
rs80356868
|
|
NM_007294.4(BRCA1):c.5467+2T>G
|
rs80358009
|
|
NM_007294.4(BRCA1):c.5468-1G>A
|
rs80358048
|
|
NM_007294.4(BRCA1):c.5468-40T>A
|
rs80358151
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+1G>T
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007294.4(BRCA1):c.5470_5477del
|
rs80357973
|
|
NM_007294.4(BRCA1):c.5478_5479dup (p.Met1827fs)
|
rs80357757
|
|
NM_007294.4(BRCA1):c.5490del (p.Pro1831fs)
|
rs80357976
|
|
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs)
|
rs80357582
|
|
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)
|
rs273902775
|
|
NM_007294.4(BRCA1):c.5498_5511del (p.Val1833fs)
|
rs80359873
|
|
NM_007294.4(BRCA1):c.5503_5564del (p.Arg1835fs)
|
rs80359883
|
|
NM_007294.4(BRCA1):c.5506G>T (p.Glu1836Ter)
|
rs80356942
|
|
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)
|
rs80357307
|
|
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5512del (p.Val1838fs)
|
rs80357839
|
|
NM_007294.4(BRCA1):c.5521del (p.Ser1841fs)
|
rs80357721
|
|
NM_007294.4(BRCA1):c.5535C>A (p.Tyr1845Ter)
|
rs80356977
|
|
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)
|
rs80356873
|
|
NM_007294.4(BRCA1):c.5559C>A (p.Tyr1853Ter)
|
rs80357336
|
|
NM_007294.4(BRCA1):c.64_65dup (p.Leu22fs)
|
rs80357642
|
|
NM_007294.4(BRCA1):c.65del (p.Ile21_Leu22insTer)
|
rs80357642
|
|
NM_007294.4(BRCA1):c.668del (p.Lys223fs)
|
rs80357537
|
|
NM_007294.4(BRCA1):c.668dup (p.Ala224fs)
|
rs80357537
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.671-1G>T
|
rs80358020
|
|
NM_007294.4(BRCA1):c.671-2A>C
|
rs80358108
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.685del (p.Ser229fs)
|
rs80357824
|
|
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.70_71insA (p.Cys24Ter)
|
rs80357536
|
|
NM_007294.4(BRCA1):c.70_71insTGTC (p.Cys24fs)
|
rs80357536
|
|
NM_007294.4(BRCA1):c.731del (p.Asn244fs)
|
rs80357700
|
|
NM_007294.4(BRCA1):c.74_75del (p.Pro25fs)
|
rs80357633
|
|
NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter)
|
rs80357009
|
|
NM_007294.4(BRCA1):c.775del (p.Glu259fs)
|
rs80357628
|
|
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.80+1G>A
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+1G>C
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+1G>T
|
rs80358010
|
|
NM_007294.4(BRCA1):c.80+2T>G
|
rs80358128
|
|
NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter)
|
rs80357392
|
|
NM_007294.4(BRCA1):c.809del (p.His270fs)
|
rs80357965
|
|
NM_007294.4(BRCA1):c.81-1G>A
|
rs80358018
|
|
NM_007294.4(BRCA1):c.81-2del
|
rs273902791
|
|
NM_007294.4(BRCA1):c.822T>A (p.Cys274Ter)
|
rs80357331
|
|
NM_007294.4(BRCA1):c.833_834insA (p.His279fs)
|
rs483353108
|
|
NM_007294.4(BRCA1):c.835del (p.His279fs)
|
rs80357523
|
|
NM_007294.4(BRCA1):c.83_84del (p.Leu28fs)
|
rs80357728
|
|
NM_007294.4(BRCA1):c.841_842dup (p.Ser281fs)
|
rs80357792
|
|
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>A (p.Leu283Ter)
|
rs273902792
|
|
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.882del (p.Asp295fs)
|
rs80357587
|
|
NM_007294.4(BRCA1):c.892_895dup (p.Val299fs)
|
rs80357806
|
|
NM_007294.4(BRCA1):c.895_896del (p.Val299fs)
|
rs80357670
|
|
NM_007294.4(BRCA1):c.902_903insT (p.Lys301fs)
|
rs80357726
|
|
NM_007294.4(BRCA1):c.904del (p.Ala302fs)
|
rs273903793
|
|
NM_007294.4(BRCA1):c.911del (p.Phe304fs)
|
rs80357622
|
|
NM_007294.4(BRCA1):c.922_923del (p.Ser308fs)
|
rs80357644
|
|
NM_007294.4(BRCA1):c.923del (p.Ser308fs)
|
rs80357953
|
|
NM_007294.4(BRCA1):c.929del (p.Gln310fs)
|
rs80357844
|
|
NM_007294.4(BRCA1):c.930del (p.Gln310fs)
|
rs80357689
|
|
NM_007294.4(BRCA1):c.949C>T (p.Gln317Ter)
|
rs80357211
|
|
NM_007294.4(BRCA1):c.949_953del (p.Ser316_Gln317insTer)
|
rs80357555
|
|
NM_007294.4(BRCA1):c.952_1015del (p.His318fs)
|
rs80359872
|
|
NM_007294.4(BRCA1):c.954_955insGT (p.Asn319fs)
|
rs80357690
|
|
NM_007294.4(BRCA1):c.959_960del (p.Arg320fs)
|
rs397509339
|
|
NM_007294.4(BRCA1):c.964del (p.Ala322fs)
|
rs273903794
|
|
NM_007294.4(BRCA1):c.980_981del (p.Thr327fs)
|
rs80357610
|
|
NM_007294.4(BRCA1):c.984_985insC (p.Asn329fs)
|
rs80357775
|
|
Single allele
|
|
|
U14680.1(BRCA1):n.252_256del5insT
|
|
|
U14680.1(BRCA1):n.5274delG
|
rs80357743
|
|
U14680.1:n.2294delG
|
|
|
U14680.1:n.2494delC
|
|
|
U14680.1:n.3235_3238delCAGC
|
|
|
U14680.1:n.3702delA
|
|
|
U14680.1:n.562T>A
|
|
|