NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
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_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_015373.4(CBY1):c.189_190del (p.Gly64_Val65insTer)
|
rs747514855
|
0.00002
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)
|
rs41293477
|
0.00001
|
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs)
|
rs80359436
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9118-2A>G
|
rs81002862
|
0.00001
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
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
|
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3
|
|
|
GRCh37/hg19 17p13.3(chr17:84287-2468384)x1
|
|
|
GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1
|
|
|
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1
|
|
|
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3
|
|
|
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1
|
|
|
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1
|
|
|
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3
|
|
|
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1
|
|
|
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1
|
|
|
GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1
|
|
|
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1
|
|
|
NC_000013.10:g.(32890665_32893213)_(32893463_32899212)del
|
|
|
NC_000013.10:g.(32937671_32944538)_(32950929_32953453)del
|
|
|
NC_000013.10:g.(32944695_32945092)_(32945238_32950806)del
|
|
|
NC_000017.10:g.(41219713_41222944)_(41267797_41276033)del
|
|
|
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_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
NM_000059.4(BRCA2):c.1429del (p.His477fs)
|
rs1555281909
|
|
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)
|
rs80358434
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter)
|
rs398122729
|
|
NM_000059.4(BRCA2):c.1658T>G (p.Leu553Ter)
|
rs876659627
|
|
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter)
|
rs201523522
|
|
NM_000059.4(BRCA2):c.171del (p.Asn56_Tyr57insTer)
|
rs1555280367
|
|
NM_000059.4(BRCA2):c.1905_1909del (p.Asp635fs)
|
rs1555282156
|
|
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)
|
rs398122735
|
|
NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter)
|
rs397507617
|
|
NM_000059.4(BRCA2):c.2156_2159del (p.Asn719fs)
|
rs1555282489
|
|
NM_000059.4(BRCA2):c.2636_2637del (p.Asp878_Ser879insTer)
|
rs276174826
|
|
NM_000059.4(BRCA2):c.316+1G>T
|
rs397507303
|
|
NM_000059.4(BRCA2):c.3307_3308dup (p.Leu1103fs)
|
rs1555283160
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3596_3599del (p.Asp1199fs)
|
rs886040484
|
|
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer)
|
rs1555283373
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)
|
rs80358650
|
|
NM_000059.4(BRCA2):c.407del (p.Asn136fs)
|
rs80359425
|
|
NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)
|
rs80358658
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.4710del (p.Glu1571fs)
|
rs1555283915
|
|
NM_000059.4(BRCA2):c.4794_4797del (p.Asn1599fs)
|
rs747418290
|
|
NM_000059.4(BRCA2):c.4821_4823delinsC (p.Glu1608fs)
|
rs587782854
|
|
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)
|
rs80359473
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5157_5161del (p.Asn1719fs)
|
rs80359488
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5577del (p.Lys1861_Val1862insTer)
|
rs397507355
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.6034dup (p.Ser2012fs)
|
rs397507823
|
|
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs)
|
rs398122546
|
|
NM_000059.4(BRCA2):c.6085_6089del (p.Glu2029fs)
|
rs886040635
|
|
NM_000059.4(BRCA2):c.614del (p.Ser205fs)
|
rs1555281103
|
|
NM_000059.4(BRCA2):c.6373dup (p.Thr2125fs)
|
rs80359577
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
NM_000059.4(BRCA2):c.6611dup (p.Val2205fs)
|
rs1135401915
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.7234del (p.Thr2412fs)
|
rs1135401917
|
|
NM_000059.4(BRCA2):c.7617+1G>A
|
rs397507922
|
|
NM_000059.4(BRCA2):c.7673_7674del (p.Glu2558fs)
|
rs80359672
|
|
NM_000059.4(BRCA2):c.7680dup (p.Gln2561fs)
|
rs80359673
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
NM_000059.4(BRCA2):c.7829dup (p.Asp2611fs)
|
rs1555286826
|
|
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer)
|
rs80359686
|
|
NM_000059.4(BRCA2):c.8090_8105del (p.Ser2697fs)
|
rs1555286989
|
|
NM_000059.4(BRCA2):c.8130del (p.Ser2710fs)
|
rs80359696
|
|
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs)
|
rs276174904
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8396dup (p.Pro2800fs)
|
rs1555287629
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter)
|
rs398122610
|
|
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs)
|
rs397508040
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter)
|
rs397507430
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)
|
rs776587763
|
|
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg)
|
rs121918501
|
|
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)
|
rs121918499
|
|
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu)
|
rs28931615
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)
|
rs104894054
|
|
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val)
|
rs104894059
|
|
NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val)
|
rs879255262
|
|
NM_001351132.2(PEX5):c.677dup (p.Val227fs)
|
rs796051881
|
|
NM_001371928.1(AHDC1):c.3185_3186del (p.Thr1062fs)
|
rs2019349792
|
|
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp)
|
rs483352867
|
|
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)
|
rs1064794325
|
|
NM_006563.5(KLF1):c.1012C>T (p.Pro338Ser)
|
rs387907599
|
|
NM_006563.5(KLF1):c.892G>C (p.Ala298Pro)
|
rs387907598
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
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.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.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.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.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.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.5193+2del
|
rs273901751
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
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.5534del (p.Tyr1845fs)
|
rs1060505048
|
|
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
|
|
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)
|
rs199470470
|
|
NM_015373.4(CBY1):c.64_65dup (p.Asn23fs)
|
rs1318058212
|
|
NM_024757.5(EHMT1):c.2018+1G>C
|
rs1950997931
|
|
NM_130466.3(UBE3B):c.[1773delC];[1A>G]
|
|
|