NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)
|
rs3219484
|
0.04794
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
|
rs61754118
|
0.00745
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)
|
rs145551486
|
0.00128
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_000251.3(MSH2):c.1386+23T>G
|
rs747646424
|
0.00010
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)
|
rs761032954
|
0.00003
|
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)
|
rs730881878
|
0.00003
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
rs373400041
|
0.00002
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
rs55962656
|
0.00002
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys)
|
rs587782279
|
0.00002
|
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)
|
rs778531080
|
0.00002
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)
|
rs749036865
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.280A>G (p.Met94Val)
|
rs864622758
|
0.00001
|
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)
|
rs587779832
|
0.00001
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
NM_000051.4(ATM):c.902-1G>T
|
rs1064793518
|
0.00001
|
NM_000059.4(BRCA2):c.6235del (p.Val2079fs)
|
rs397507835
|
0.00001
|
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys)
|
rs786202615
|
0.00001
|
NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys)
|
rs786202520
|
0.00001
|
NM_000465.4(BARD1):c.2057A>G (p.His686Arg)
|
rs864622380
|
0.00001
|
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)
|
rs730881411
|
0.00001
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)
|
rs180177115
|
0.00001
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
NM_032043.2(BRIP1):c.2097+8A>C
|
rs730881642
|
0.00001
|
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)
|
rs745578572
|
0.00001
|
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)
|
rs747907706
|
0.00001
|
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)
|
rs876659450
|
|
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu)
|
rs551872656
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.492G>T (p.Trp164Cys)
|
rs1555059530
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)
|
rs1565489956
|
|
NM_000051.4(ATM):c.6758A>G (p.Lys2253Arg)
|
rs786203332
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7517_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8441A>G (p.Glu2814Gly)
|
|
|
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)
|
rs1555143494
|
|
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp)
|
rs1565608897
|
|
NM_000059.4(BRCA2):c.-39-1_-39del
|
rs758732038
|
|
NM_000059.4(BRCA2):c.1805del (p.Gly602fs)
|
rs397507608
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs)
|
rs80359314
|
|
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)
|
rs398122735
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
|
NM_000059.4(BRCA2):c.3067_3071del (p.His1022_Asn1023insTer)
|
rs80359369
|
|
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs)
|
rs80359374
|
|
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)
|
rs80359377
|
|
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter)
|
rs397507305
|
|
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)
|
rs886040494
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.4376dup (p.Asn1459fs)
|
rs1555283752
|
|
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs)
|
rs397507333
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr)
|
rs80358761
|
|
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter)
|
rs80359527
|
|
NM_000059.4(BRCA2):c.5807del (p.Met1936fs)
|
rs1555284404
|
|
NM_000059.4(BRCA2):c.6269del (p.His2090fs)
|
rs1375058950
|
|
NM_000059.4(BRCA2):c.6447_6448dup (p.Lys2150fs)
|
rs397507858
|
|
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter)
|
rs397507866
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.765_769del (p.Asn255fs)
|
rs2072386817
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7951A>G (p.Arg2651Gly)
|
rs1555286865
|
|
NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg)
|
rs730881564
|
|
NM_000059.4(BRCA2):c.8639_8640del (p.Thr2880fs)
|
rs886038184
|
|
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs)
|
rs80359734
|
|
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.945_947del (p.Cys315_Arg316delinsTer)
|
|
|
NM_000059.4(BRCA2):c.9685C>T (p.Pro3229Ser)
|
rs1064793542
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.9919A>G (p.Lys3307Glu)
|
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu)
|
rs1057520473
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val)
|
rs754225520
|
|
NM_000251.3(MSH2):c.1661+3T>G
|
rs1064793688
|
|
NM_000251.3(MSH2):c.204del (p.Pro69fs)
|
rs63750199
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)
|
rs878853813
|
|
NM_000251.3(MSH2):c.942+14_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+22_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+26_942+29del
|
rs11309117
|
|
NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala)
|
rs748780206
|
|
NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser)
|
rs1839125790
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
|
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.1811-2A>G
|
rs1693044156
|
|
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)
|
rs777013688
|
|
NM_000465.4(BARD1):c.895A>G (p.Thr299Ala)
|
rs1694983227
|
|
NM_000535.7(PMS2):c.2109G>C (p.Thr703=)
|
rs775355718
|
|
NM_000535.7(PMS2):c.784G>A (p.Ala262Thr)
|
rs779625900
|
|
NM_002875.5(RAD51):c.760C>T (p.Arg254Ter)
|
rs199925463
|
|
NM_004360.5(CDH1):c.1073C>G (p.Thr358Arg)
|
rs1191901557
|
|
NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln)
|
rs587780115
|
|
NM_004360.5(CDH1):c.2396C>G (p.Pro799Arg)
|
rs587781335
|
|
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu)
|
rs74751600
|
|
NM_007194.4(CHEK2):c.1461+5G>A
|
rs769841229
|
|
NM_007194.4(CHEK2):c.1543-11_1543-2del
|
rs2145739661
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.1563del (p.Arg523fs)
|
rs786202339
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)
|
rs730881681
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
|
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del)
|
rs587782008
|
|
NM_007194.4(CHEK2):c.511_512delinsGGTTCCATCC (p.Asn171fs)
|
rs2053942986
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NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro)
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rs1296957097
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NM_007194.4(CHEK2):c.909-49_1095+51del
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NM_007194.4(CHEK2):c.917G>T (p.Gly306Val)
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rs587780192
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NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del
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NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter)
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rs80357046
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NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
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rs80357664
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NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer)
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rs1555588016
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NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
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rs80357711
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NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
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rs55770810
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NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
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rs80357906
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NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
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rs80357914
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NM_015450.3(POT1):c.702+8_702+9delinsTG
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rs36069303
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NM_024675.4(PALB2):c.1126del (p.Ser376fs)
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rs2142425187
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NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp)
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rs730881883
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NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
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rs1555461294
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NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
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rs180177143
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NM_024675.4(PALB2):c.212-2A>C
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rs730881879
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NM_024675.4(PALB2):c.2235del (p.Ala746fs)
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rs1966858562
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NM_024675.4(PALB2):c.2834+1G>A
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rs587776419
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NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
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rs515726117
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NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
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rs587776428
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NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
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rs118203998
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NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
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rs515726123
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NM_024675.4(PALB2):c.72del (p.Arg26fs)
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rs180177142
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NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
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rs180177092
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NM_032043.2(BRIP1):c.1474-7C>A
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rs886041146
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NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val)
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rs778992385
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NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro)
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rs876660191
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NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
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rs587781321
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NM_032043.3(BRIP1):c.2040_2044del (p.Leu680fs)
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rs2077534283
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NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
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NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
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rs786203717
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NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
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rs889877039
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NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)
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rs876660074
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NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
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rs587781416
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NM_032043.3(BRIP1):c.403del (p.Ala135fs)
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rs2078781062
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NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)
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rs1555609275
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NM_032043.3(BRIP1):c.93+4_93+7del
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rs1224034842
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NM_177438.3(DICER1):c.1376+6del
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rs1893183218
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