NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)
|
rs80359112
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)
|
rs587779813
|
0.00001
|
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)
|
rs397507634
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.2957_2958insG (p.Asn986fs)
|
rs1555282969
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter)
|
rs80358754
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)
|
rs80358843
|
0.00001
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)
|
rs80359718
|
0.00001
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_002878.4(RAD51D):c.739-1G>A
|
rs1555567202
|
0.00001
|
NM_007294.4(BRCA1):c.135-1G>T
|
rs80358158
|
0.00001
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
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.4243del (p.Glu1415fs)
|
rs80357981
|
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.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
NC_000017.11:g.43045676_43045803del
|
rs2152474705
|
|
NM_000038.6(APC):c.-2_135+1824del
|
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.3403-1_3577-680del
|
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs)
|
rs876659535
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)
|
rs878853535
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.8288del (p.Arg2763fs)
|
rs886039630
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.3683delinsGG (p.Asn1228fs)
|
rs1555283361
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.1054dup (p.Tyr352fs)
|
rs80359261
|
|
NM_000059.4(BRCA2):c.1257del (p.Cys419fs)
|
rs80359272
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter)
|
rs587781799
|
|
NM_000059.4(BRCA2):c.1389del (p.Val464fs)
|
rs397507584
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs)
|
rs886040374
|
|
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)
|
rs80358456
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)
|
rs80358474
|
|
NM_000059.4(BRCA2):c.1910-1G>A
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs)
|
rs80359328
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
NM_000059.4(BRCA2):c.246del (p.Glu83fs)
|
rs397507630
|
|
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs)
|
rs80359340
|
|
NM_000059.4(BRCA2):c.26del (p.Pro9fs)
|
rs80359343
|
|
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs)
|
rs80359365
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3119del (p.Thr1040fs)
|
rs2137493409
|
|
NM_000059.4(BRCA2):c.3170_3174del (p.Lys1057fs)
|
rs80359373
|
|
NM_000059.4(BRCA2):c.3215dup (p.Leu1072fs)
|
rs2072475243
|
|
NM_000059.4(BRCA2):c.3308del (p.Asn1102_Leu1103insTer)
|
rs1555283160
|
|
NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)
|
rs80358579
|
|
NM_000059.4(BRCA2):c.3453del (p.Ile1151_Leu1152insTer)
|
rs397507670
|
|
NM_000059.4(BRCA2):c.3454_3455del (p.Leu1152fs)
|
rs1555283251
|
|
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)
|
rs80358593
|
|
NM_000059.4(BRCA2):c.3481_3491del (p.Asp1161fs)
|
rs1555283262
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.4042del (p.Cys1348fs)
|
rs886037800
|
|
NM_000059.4(BRCA2):c.426-2A>G
|
rs398122779
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs)
|
rs80359444
|
|
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)
|
rs80359454
|
|
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs)
|
rs1064794708
|
|
NM_000059.4(BRCA2):c.4694del (p.Lys1565fs)
|
rs1593903166
|
|
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs)
|
rs276174853
|
|
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)
|
rs276174854
|
|
NM_000059.4(BRCA2):c.517-2_631+1del
|
rs2137451892
|
|
NM_000059.4(BRCA2):c.51_52del (p.Arg18fs)
|
rs80359483
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5557del (p.Cys1853fs)
|
rs587782011
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5593dup (p.Ile1865fs)
|
rs2137518942
|
|
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs)
|
rs80359526
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)
|
rs56253082
|
|
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs)
|
rs80359537
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs)
|
rs398122546
|
|
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs)
|
rs80359558
|
|
NM_000059.4(BRCA2):c.610del (p.Ser205fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.6313del (p.Ile2105fs)
|
rs886040649
|
|
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)
|
rs80359594
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6468_6469dup (p.Gln2157fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.68-1G>T
|
rs1060502376
|
|
NM_000059.4(BRCA2):c.68-2_316+1del
|
rs2138703519
|
|
NM_000059.4(BRCA2):c.6808_6836del (p.Gly2270fs)
|
rs2137530818
|
|
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)
|
rs56383036
|
|
NM_000059.4(BRCA2):c.7183del (p.His2395fs)
|
rs397507900
|
|
NM_000059.4(BRCA2):c.7234_7235insG (p.Thr2412fs)
|
rs397507906
|
|
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer)
|
rs80359651
|
|
NM_000059.4(BRCA2):c.7467dup (p.Ile2490fs)
|
rs397507918
|
|
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)
|
rs80358971
|
|
NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)
|
rs80359659
|
|
NM_000059.4(BRCA2):c.7580dup (p.Gly2528fs)
|
rs1555286298
|
|
NM_000059.4(BRCA2):c.7726G>T (p.Gly2576Ter)
|
rs1210418849
|
|
NM_000059.4(BRCA2):c.7762_7764delinsTT (p.Ile2588fs)
|
rs483353072
|
|
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter)
|
rs397507941
|
|
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)
|
rs80359011
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.8195T>A (p.Leu2732Ter)
|
rs397507967
|
|
NM_000059.4(BRCA2):c.8206dup (p.Leu2736fs)
|
rs397507396
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)
|
rs80359714
|
|
NM_000059.4(BRCA2):c.8680del (p.Gln2894fs)
|
rs397507410
|
|
NM_000059.4(BRCA2):c.8732del (p.Ala2911fs)
|
rs2137613348
|
|
NM_000059.4(BRCA2):c.8754+1G>A
|
rs397508006
|
|
NM_000059.4(BRCA2):c.8754+4A>G
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
NM_000059.4(BRCA2):c.8827del (p.Gln2943fs)
|
rs2137619587
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.8954-1G>A
|
rs1555288435
|
|
NM_000059.4(BRCA2):c.8954-2A>C
|
rs1135401928
|
|
NM_000059.4(BRCA2):c.9014_9017dup (p.Tyr3006Ter)
|
rs1555288462
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9118-1G>C
|
rs886040950
|
|
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)
|
rs80359180
|
|
NM_000059.4(BRCA2):c.927del (p.Leu310fs)
|
rs886040828
|
|
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs)
|
rs786203318
|
|
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)
|
rs80359211
|
|
NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs)
|
rs876659435
|
|
NM_000059.4(BRCA2):c.9431del (p.Ser3144fs)
|
rs397508051
|
|
NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)
|
rs80359772
|
|
NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)
|
rs4987049
|
|
NM_000059.4(BRCA2):c.994del (p.Ile332fs)
|
rs80359777
|
|
NM_000136.3(FANCC):c.166-165_250+3del
|
rs2136090574
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)
|
rs587779315
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
NM_000251.3(MSH2):c.2484dup (p.His829fs)
|
rs1553370324
|
|
NM_000251.3(MSH2):c.792+1G>C
|
rs267607934
|
|
NM_000314.8(PTEN):c.492+1del
|
rs1564830522
|
|
NM_000465.4(BARD1):c.1569-1_1677+2del
|
rs2106038518
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1904-502_*2del
|
|
|
NM_000465.4(BARD1):c.3G>A (p.Met1Ile)
|
rs587780031
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
NM_000535.7(PMS2):c.2276-1_2445+2del
|
rs2128671526
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
NM_000546.6(TP53):c.574C>T (p.Gln192Ter)
|
rs866380588
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_004360.5(CDH1):c.2440-2_*1del
|
rs2152143824
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
NM_007194.4(CHEK2):c.1009-100_1095+3del
|
rs2145815434
|
|
NM_007194.4(CHEK2):c.1324del (p.Ser442fs)
|
rs2145794195
|
|
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)
|
rs766416564
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.793-110_846+2del
|
rs2145932387
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007294.4(BRCA1):c.1100del (p.Thr367fs)
|
rs2154476126
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs)
|
rs80357543
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs)
|
rs397508867
|
|
NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)
|
rs62625303
|
|
NM_007294.4(BRCA1):c.1499del (p.Asn500fs)
|
rs397508874
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1508del (p.Lys503fs)
|
rs80357506
|
|
NM_007294.4(BRCA1):c.1848_1861del (p.Thr617fs)
|
rs2154416271
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)
|
rs273898674
|
|
NM_007294.4(BRCA1):c.212+1G>T
|
rs80358042
|
|
NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter)
|
rs80357058
|
|
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)
|
rs41286296
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2365del (p.Ser789fs)
|
rs2154381368
|
|
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)
|
rs80357350
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2489_2492del (p.Lys830fs)
|
rs886040043
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.2827A>T (p.Lys943Ter)
|
rs2154357524
|
|
NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)
|
rs386134270
|
|
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)
|
rs80357115
|
|
NM_007294.4(BRCA1):c.2_80+4del
|
rs2154576469
|
|
NM_007294.4(BRCA1):c.302-167_441+3del
|
rs2154548547
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3225_3226del (p.Asn1075fs)
|
rs2154335955
|
|
NM_007294.4(BRCA1):c.3247_3251del (p.Ala1082_Met1083insTer)
|
rs1135401859
|
|
NM_007294.4(BRCA1):c.3279del (p.Tyr1094fs)
|
rs397509050
|
|
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
|
rs80357485
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs)
|
rs80357966
|
|
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)
|
rs80357945
|
|
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)
|
rs397509067
|
|
NM_007294.4(BRCA1):c.3476del (p.Ile1159fs)
|
rs2154311311
|
|
NM_007294.4(BRCA1):c.3626T>G (p.Leu1209Ter)
|
rs786203884
|
|
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)
|
rs80357310
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3833del (p.Lys1278fs)
|
rs1135401868
|
|
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)
|
rs80356866
|
|
NM_007294.4(BRCA1):c.3914dup (p.Asp1305fs)
|
rs2154277394
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
|
rs80357259
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4484+1G>A
|
rs80358063
|
|
NM_007294.4(BRCA1):c.4485-10_4491del
|
rs2154024242
|
|
NM_007294.4(BRCA1):c.4485-2A>T
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4493del (p.Pro1498fs)
|
rs398122687
|
|
NM_007294.4(BRCA1):c.4903del (p.Glu1635fs)
|
rs1555580697
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.4986+6T>G
|
rs80358086
|
|
NM_007294.4(BRCA1):c.4987-1331_5152+2del
|
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)
|
rs80357133
|
|
NM_007294.4(BRCA1):c.5074+1G>A
|
rs80358053
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5075-390_5193+2del
|
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5141_5144del (p.Val1714fs)
|
rs2153585533
|
|
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)
|
rs878854957
|
|
NM_007294.4(BRCA1):c.5194-119_5277+3del
|
rs2153352800
|
|
NM_007294.4(BRCA1):c.5194-1_5277+2del
|
rs2153353204
|
|
NM_007294.4(BRCA1):c.5194-2A>G
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5194-836_5277+3del
|
rs2153352893
|
|
NM_007294.4(BRCA1):c.5277+1G>A
|
rs80358150
|
|
NM_007294.4(BRCA1):c.5280del (p.Phe1761fs)
|
rs2153085709
|
|
NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)
|
rs80357590
|
|
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.5407-1G>A
|
rs80358029
|
|
NM_007294.4(BRCA1):c.5407-73_5467+4del
|
rs2152762741
|
|
NM_007294.4(BRCA1):c.66_67delinsTT (p.Leu22_Glu23delinsPheTer)
|
rs2154576881
|
|
NM_007294.4(BRCA1):c.672del (p.Ala225fs)
|
rs2154500888
|
|
NM_007294.4(BRCA1):c.676del (p.Cys226fs)
|
rs80357941
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.695dup (p.Asp232fs)
|
rs1555593302
|
|
NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter)
|
rs2154496548
|
|
NM_007294.4(BRCA1):c.851del (p.Gln284fs)
|
rs2154489483
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
NM_024675.4(PALB2):c.2575del (p.Ser859fs)
|
rs2142367858
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.654del (p.Asp219fs)
|
rs587781697
|
|
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)
|
rs587782531
|
|
NM_024675.4(PALB2):c.695del (p.Gly232fs)
|
rs1060502769
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_058216.3(RAD51C):c.394dup (p.Thr132fs)
|
rs730881940
|
|
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)
|
rs587782818
|
|
NM_058216.3(RAD51C):c.966-2_1026+1del
|
rs2144044038
|
|