ClinVar Miner

List of variants reported as likely pathogenic for Hereditary cancer-predisposing syndrome by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 723
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_001048174.2(MUTYH):c.421-2A>C rs786203161 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln) rs1060501346 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.72+1G>A rs786204088 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.8786+1G>T rs17174393 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149 0.00001
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NM_000077.5(CDKN2A):c.458-105A>G rs1060501266 0.00001
NM_000179.3(MSH6):c.261-1G>C rs863225402 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_001048174.2(MUTYH):c.-6-2A>G rs1383826978 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.242G>C (p.Arg81Pro) rs761763725 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met) rs776487884 0.00001
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) rs199989617 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1375+2T>A rs1483241325 0.00001
NM_007194.4(CHEK2):c.1462-1G>A rs1060502698 0.00001
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) rs1064793817 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_032043.3(BRIP1):c.2379+1G>A rs1555590286 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.2906-1G>A rs773639563 0.00001
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) rs730881932 0.00001
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.136-1G>A rs1554069481
NM_000038.6(APC):c.1409-2A>T rs1064794163
NM_000038.6(APC):c.2109del (p.Val704fs)
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.3317del (p.Gly1106fs) rs1561583917
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.4525_4526del (p.Leu1509fs) rs2149916736
NM_000038.6(APC):c.5507del (p.Gly1836fs) rs1561600715
NM_000038.6(APC):c.5818_5821del (p.Ile1940fs)
NM_000038.6(APC):c.6845T>G (p.Leu2282Ter)
NM_000038.6(APC):c.7803_7807del (p.Ser2601fs) rs1580686729
NM_000038.6(APC):c.7882C>T (p.Gln2628Ter)
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1066-2A>T rs1555069514
NM_000051.4(ATM):c.1607+1G>A rs772926890
NM_000051.4(ATM):c.1783_1802+91del rs1555072063
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1898+1G>T rs758325274
NM_000051.4(ATM):c.1899-1G>A rs1555073065
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2467-2A>G rs1555082050
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.3023del (p.Ser1008fs) rs2135553794
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.3402+1G>C rs1565439606
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.3994-2A>C rs587782276
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.4436+2T>C rs1555097898
NM_000051.4(ATM):c.4611+1del rs1565461824
NM_000051.4(ATM):c.4612-3_4616del rs773012957
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2_4776+13del rs762838462
NM_000051.4(ATM):c.4910-2A>T rs1555103156
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+1G>C rs876658500
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.497-1G>C rs778624615
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2661A>G rs1591491477
NM_000051.4(ATM):c.5177+1G>C rs1131691159
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.5674+1G>T rs1565482453
NM_000051.4(ATM):c.5675-2A>G rs2083814855
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5919-1del rs2084240759
NM_000051.4(ATM):c.6006+1G>C rs786202016
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6572+1G>T rs587779856
NM_000051.4(ATM):c.6808-1G>C rs2085644916
NM_000051.4(ATM):c.6975+2T>C rs879254199
NM_000051.4(ATM):c.6976-10_6989del rs587779859
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro) rs1555120997
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.72+2T>C rs1591446206
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro) rs1565526951
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8152-2A>G rs777602049
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8269-1G>C rs1565557607
NM_000051.4(ATM):c.8419-1G>C rs1555137920
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.4(ATM):c.8850+1G>A rs1555143620
NM_000051.4(ATM):c.8851-1G>A rs1057516537
NM_000051.4(ATM):c.8988-2A>G rs786202087
NM_000051.4(ATM):c.901+1G>T rs748840480
NM_000051.4(ATM):c.901+1_901+26del rs1380265721
NM_000051.4(ATM):c.901+2T>C rs1218815157
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.902-2A>T rs2079877131
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter) rs2137911487
NM_000051.4(ATM):c.9057_9058dup (p.Val3020fs) rs2137913928
NM_000051.4(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000059.4(BRCA2):c.1910-1G>T rs1566225769
NM_000059.4(BRCA2):c.316+1G>A rs397507303
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.475+3A>G rs81002795
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.476-1G>A rs397507340
NM_000059.4(BRCA2):c.476-1G>T
NM_000059.4(BRCA2):c.5049_5053del (p.Gln1683fs) rs2137513400
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys) rs397507768
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.681+1G>A rs398122565
NM_000059.4(BRCA2):c.681+2dup rs587781486
NM_000059.4(BRCA2):c.681+4A>G rs397507884
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs) rs761744738
NM_000059.4(BRCA2):c.6864dup (p.Leu2290fs)
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter) rs1555285146
NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs) rs1566236904
NM_000059.4(BRCA2):c.7007+1G>A rs397507891
NM_000059.4(BRCA2):c.7007+2T>G rs886040937
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.7008-2A>T rs81002823
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.7977-1G>T rs81002874
NM_000059.4(BRCA2):c.7977-3_7977-1delinsAA rs483353073
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp) rs80359035
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8332-1G>T rs397507979
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8488-1G>T rs397507404
NM_000059.4(BRCA2):c.8632+1G>A rs397507997
NM_000059.4(BRCA2):c.8633-24_8634del rs886040945
NM_000059.4(BRCA2):c.8754+1G>C rs397508006
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8953+1G>A rs81002882
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9256+1G>C rs81002883
NM_000059.4(BRCA2):c.9256+2T>C rs1555288591
NM_000059.4(BRCA2):c.9257-2A>G rs886040954
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.9501+1dup rs2073025642
NM_000059.4(BRCA2):c.9502-2A>C rs81002868
NM_000059.4(BRCA2):c.9588del (p.Asp3197fs) rs876661285
NM_000059.4(BRCA2):c.9672del (p.Tyr3225fs) rs1593201647
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs) rs886040850
NM_000059.4(BRCA2):c.9808del (p.Ala3270fs) rs398122622
NM_000059.4(BRCA2):c.9850_9866del (p.Ser3284fs) rs1566261091
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter) rs80359247
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) rs786204195
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro) rs1587332314
NM_000077.5(CDKN2A):c.199G>C (p.Gly67Arg) rs758389471
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) rs754806883
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly) rs876660436
NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs) rs1554653956
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro) rs6413464
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.260+2_260+3delinsAG rs1064794075
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.3(MSH6):c.3172+1G>C rs587779255
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3173-10_3173-6del rs781520783
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.3(MSH6):c.3379_3438+5del rs1553331676
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.3(MSH6):c.3646+1dup rs1553332768
NM_000179.3(MSH6):c.3646+2T>C rs1553332776
NM_000179.3(MSH6):c.3647-1G>C rs587779279
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3798_3801+9del rs1553333168
NM_000179.3(MSH6):c.3802-2A>G
NM_000179.3(MSH6):c.3802-7_3802-4del rs876661171
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.3(MSH6):c.3999dup (p.Arg1334fs) rs863225418
NM_000179.3(MSH6):c.4002-2A>G rs878853745
NM_000179.3(MSH6):c.4002-6_4002-1del rs1670205307
NM_000179.3(MSH6):c.4004_4007dup (p.Cys1337fs) rs876658497
NM_000179.3(MSH6):c.4008_4009dup (p.Cys1337fs) rs1553333981
NM_000179.3(MSH6):c.458-1G>A rs267608035
NM_000249.4(MLH1):c.-15_28del (p.Met1fs) rs2125693080
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.4(MLH1):c.1409+1G>A rs267607825
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1409+2T>C rs587778911
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.152T>A (p.Val51Asp) rs1553638767
NM_000249.4(MLH1):c.1559-1G>C rs267607837
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.1668-2A>C rs1559578422
NM_000249.4(MLH1):c.1731+5_1731+6delinsCC rs2125958437
NM_000249.4(MLH1):c.1732-264A>T rs2085261656
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp) rs63750587
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn) rs63750850
NM_000249.4(MLH1):c.188A>T (p.Asp63Val) rs1064795693
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu) rs63749900
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.1989+5G>A rs267607878
NM_000249.4(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.4(MLH1):c.1990-1G>C rs267607884
NM_000249.4(MLH1):c.1990-2del
NM_000249.4(MLH1):c.1A>C (p.Met1Leu) rs587778967
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro) rs63750217
NM_000249.4(MLH1):c.207+5G>A rs587781518
NM_000249.4(MLH1):c.207+5G>C rs587781518
NM_000249.4(MLH1):c.2103+3A>G rs587778976
NM_000249.4(MLH1):c.2104-2_2114del
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs) rs267607901
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.381-1G>C rs267607744
NM_000249.4(MLH1):c.388T>C (p.Tyr130His) rs587779010
NM_000249.4(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.4(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.4(MLH1):c.677+1G>A rs267607778
NM_000249.4(MLH1):c.677+1G>C rs267607778
NM_000249.4(MLH1):c.677+2T>G rs1553644277
NM_000249.4(MLH1):c.677+5G>A rs587779034
NM_000249.4(MLH1):c.678-2A>G rs587779035
NM_000249.4(MLH1):c.779T>G (p.Leu260Arg) rs63751283
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.4(MLH1):c.884+1G>A rs1553646764
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.885-1G>C rs1553647894
NM_000249.4(MLH1):c.885-2A>G rs267607805
NM_000249.4(MLH1):c.977T>A (p.Val326Glu) rs63751049
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.3(MSH2):c.1386+2T>C rs1675076969
NM_000251.3(MSH2):c.1510+2_1510+50del rs1558508399
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.3(MSH2):c.19G>T (p.Glu7Ter) rs375561490
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.3(MSH2):c.2006-1G>T rs267607988
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg) rs63750232
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu) rs587779137
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2210+1G>C rs267608002
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2211-1G>A rs267607979
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000251.3(MSH2):c.2634+5G>A rs267608017
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp) rs63751624
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.366+1G>A rs267607924
NM_000251.3(MSH2):c.367-2A>G
NM_000251.3(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.3(MSH2):c.488T>G (p.Val163Gly) rs63750214
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp) rs587779163
NM_000251.3(MSH2):c.646-3T>G rs267607930
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.3(MSH2):c.793-1G>A rs863225397
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.943-2A>G rs587779198
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.210-6_210-2del rs1564828909
NM_000455.5(STK11):c.464+1G>A rs730881971
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.982_983del (p.Thr328fs) rs1599929369
NM_000465.4(BARD1):c.1314+1G>T
NM_000465.4(BARD1):c.1678-1_1678del rs1553615184
NM_000465.4(BARD1):c.1810+2T>G rs1234033325
NM_000465.4(BARD1):c.1903+1G>A rs876660237
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2002-1G>A rs762601855
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.2015_2016dup (p.Asp673fs) rs1559372682
NM_000465.4(BARD1):c.211T>A (p.Cys71Ser) rs1060501308
NM_000465.4(BARD1):c.212G>C (p.Cys71Ser)
NM_000465.4(BARD1):c.216-1G>A rs876658905
NM_000465.4(BARD1):c.216-2A>G rs2106135562
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter) rs1259296823
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter) rs1358155595
NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer) rs1559371635
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_000465.4(BARD1):c.364+1G>A rs2106134408
NM_000535.7(PMS2):c.1145-1G>A
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.163+1G>T rs1064795705
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2175-1G>T
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.24-1G>A rs1785723689
NM_000535.7(PMS2):c.2421del (p.Phe807fs)
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.538-2A>C rs758304323
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.559+1G>T rs1131691042
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.672+1G>T rs863224499
NM_000546.6(TP53):c.673-1G>C rs878854073
NM_000546.6(TP53):c.703A>G (p.Asn235Asp) rs786204145
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1102+1G>T rs587781337
NM_001048174.2(MUTYH):c.1240-2A>C rs1644799870
NM_001048174.2(MUTYH):c.1392_1392+6del rs864621967
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter) rs932830392
NM_001048174.2(MUTYH):c.1434+1G>A
NM_001048174.2(MUTYH):c.1434+1G>T rs876659420
NM_001048174.2(MUTYH):c.264+1G>T rs1553130042
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) rs730881832
NM_001048174.2(MUTYH):c.378+1G>T rs1645259682
NM_001048174.2(MUTYH):c.379-1G>A rs1057520660
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001048174.2(MUTYH):c.460C>G (p.Arg154Gly) rs747993448
NM_001048174.2(MUTYH):c.493-2A>G rs1553128663
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val) rs876659676
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001048174.2(MUTYH):c.914-1G>T rs2149130255
NM_001128425.2(MUTYH):c.933_933+1del rs1553127514
NM_002878.4(RAD51D):c.131_144+24del rs1064795716
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.4(RAD51D):c.263+1G>A rs1555570242
NM_002878.4(RAD51D):c.264-1G>A rs2091622013
NM_002878.4(RAD51D):c.2T>A (p.Met1Lys) rs1064794619
NM_002878.4(RAD51D):c.2dup (p.Met1fs) rs772306012
NM_002878.4(RAD51D):c.480+1G>A rs1597862471
NM_002878.4(RAD51D):c.576+1G>T rs781161543
NM_002878.4(RAD51D):c.577-2A>G rs1555567649
NM_002878.4(RAD51D):c.641dup (p.Leu215fs) rs1409088398
NM_002878.4(RAD51D):c.667+1_667+3del
NM_002878.4(RAD51D):c.739-1G>C rs1555567202
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs) rs1064795045
NM_002878.4(RAD51D):c.82+1G>T rs786202788
NM_002878.4(RAD51D):c.82+2T>G rs1597878498
NM_002878.4(RAD51D):c.83-1G>A rs2091789413
NM_002878.4(RAD51D):c.898del (p.Arg300fs) rs786202251
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter) rs1060502959
NM_002878.4(RAD51D):c.904-2A>T rs1403784434
NM_004329.3(BMPR1A):c.1166+2T>C rs750011688
NM_004329.3(BMPR1A):c.1166+2T>G rs750011688
NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu) rs786203157
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.3(BMPR1A):c.676-1G>A rs1554890734
NM_004329.3(BMPR1A):c.868+1G>A rs1589290813
NM_004360.5(CDH1):c.1008+1G>A rs1960844889
NM_004360.5(CDH1):c.1008+2T>C rs1060501237
NM_004360.5(CDH1):c.1137+2T>C rs786202817
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1565+1G>T rs587780113
NM_004360.5(CDH1):c.1565+2_1565+3insTT rs1555516200
NM_004360.5(CDH1):c.1565+2dup rs1555516200
NM_004360.5(CDH1):c.1711+2_1711+7del rs786203089
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.2296-2A>G rs876660393
NM_004360.5(CDH1):c.531+1G>C rs1131690808
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.687+1G>C rs1567504977
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_004656.4(BAP1):c.1891-1G>A rs1705011794
NM_004656.4(BAP1):c.2056+1G>C rs1578218644
NM_004656.4(BAP1):c.255+1G>A rs1060503750
NM_004656.4(BAP1):c.256-2A>C rs2153228161
NM_004656.4(BAP1):c.376-1G>A rs2153227978
NM_004656.4(BAP1):c.437+1G>T rs1553645838
NM_004656.4(BAP1):c.438-1G>A rs2153227879
NM_004656.4(BAP1):c.784-2A>T rs1559589344
NM_005359.6(SMAD4):c.1058A>C (p.Tyr353Ser) rs377767346
NM_007194.4(CHEK2):c.1008+1G>A rs1555915298
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1095+1G>T rs768172525
NM_007194.4(CHEK2):c.1375+1G>A rs759706360
NM_007194.4(CHEK2):c.1461+1G>T rs886039629
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) rs1131691045
NM_007194.4(CHEK2):c.319+2T>C
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.444+1G>C rs121908698
NM_007194.4(CHEK2):c.444+1del rs1064793780
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.445-1G>A rs587782830
NM_007194.4(CHEK2):c.445-2A>G rs1569158075
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.592+2T>G
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.683+1G>C rs786203650
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.792+1G>A rs1555921011
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.847-14_847-2del rs1293617484
NM_007194.4(CHEK2):c.847-14_847-2delinsGG rs1555917041
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007194.4(CHEK2):c.908+1G>A rs587781699
NM_007194.4(CHEK2):c.908+2T>A rs1601752066
NM_007194.4(CHEK2):c.909-1G>C rs886039721
NM_007194.4(CHEK2):c.909-2A>G rs1555915589
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr) rs1060502353
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.132C>T (p.Cys44=) rs876658362
NM_007294.4(BRCA1):c.135-1G>A rs80358158
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.25del (p.Glu9fs) rs2154578048
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.3991_4096+10delinsAT rs2053467384
NM_007294.4(BRCA1):c.4297del (p.Ile1432_Ile1433insTer) rs2154151012
NM_007294.4(BRCA1):c.4357+1G>C rs80358027
NM_007294.4(BRCA1):c.4357+2T>G rs80358152
NM_007294.4(BRCA1):c.4484+5G>T rs886040910
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
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.4676-1G>C rs80358008
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.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5075-2del rs886040913
NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg) rs886040864
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe) rs1567769244
NM_007294.4(BRCA1):c.5152+2T>C rs886040914
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile) rs80356957
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5277+1del rs273901754
NM_007294.4(BRCA1):c.5278-2A>T rs397509253
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5324_5332+5del
NM_007294.4(BRCA1):c.5332+2T>A rs80358182
NM_007294.4(BRCA1):c.5333-1G>C rs80358126
NM_007294.4(BRCA1):c.5333-2A>T rs397509264
NM_007294.4(BRCA1):c.5333-6T>G rs397509266
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.4(BRCA1):c.536_547+166delinsT rs2054281859
NM_007294.4(BRCA1):c.5402_5406+14del rs2051069083
NM_007294.4(BRCA1):c.5406+1_5406+3del rs397509277
NM_007294.4(BRCA1):c.5406+4A>G rs397509279
NM_007294.4(BRCA1):c.5407-10G>A rs273901767
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe) rs28897698
NM_007294.4(BRCA1):c.5467+1_5467+16del rs2152760370
NM_007294.4(BRCA1):c.547+1G>T rs80358030
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.671-2A>C rs80358108
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.80+5G>T rs80358045
NM_007294.4(BRCA1):c.81-2A>C rs397509326
NM_024675.4(PALB2):c.109-12T>A rs774949203
NM_024675.4(PALB2):c.1685-1G>A rs1057520645
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1A>G (p.Met1Val) rs879254144
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.212-1G>A rs1597099910
NM_024675.4(PALB2):c.2514+1G>A rs886039729
NM_024675.4(PALB2):c.2515-1G>C rs587776417
NM_024675.4(PALB2):c.2748+1G>A rs753153576
NM_024675.4(PALB2):c.2748+1G>C rs753153576
NM_024675.4(PALB2):c.2748+1G>T rs753153576
NM_024675.4(PALB2):c.2748+1_2748+2del rs1966842247
NM_024675.4(PALB2):c.2749-1G>T rs1060502804
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter) rs1567213829
NM_024675.4(PALB2):c.2950dup (p.Leu984fs) rs1966800194
NM_024675.4(PALB2):c.2997-1G>A rs754465466
NM_024675.4(PALB2):c.2997-2A>T rs1555459421
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter) rs1567206756
NM_024675.4(PALB2):c.3350+2C>G rs1555458171
NM_024675.4(PALB2):c.3351-2A>G rs1060502764
NM_024675.4(PALB2):c.48+1G>A rs515726118
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_032043.3(BRIP1):c.1140+1G>A rs1555607628
NM_032043.3(BRIP1):c.1340+2_1340+5del rs2077945546
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.1473+1G>A rs748274524
NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter) rs1555618738
NM_032043.3(BRIP1):c.1628+1G>C rs1438975574
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.2380-1G>A rs1567756032
NM_032043.3(BRIP1):c.2492_2492+5del rs1603293306
NM_032043.3(BRIP1):c.2575+2dup rs1555574711
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2923dup (p.Glu975fs) rs2061326585
NM_032043.3(BRIP1):c.2941G>T (p.Glu981Ter) rs2144093507
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.2999_3002del (p.Val1000fs) rs1567729445
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3125_3128dup (p.Ser1043fs) rs2061318885
NM_032043.3(BRIP1):c.3219del (p.Ile1074fs)
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3304_3305dup (p.Asp1102fs) rs2144080858
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.3(BRIP1):c.3362_3363del (p.Asp1120_Phe1121insTer)
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.379+1G>A rs1437158047
NM_032043.3(BRIP1):c.379+2T>C rs2145825816
NM_032043.3(BRIP1):c.380-2A>G rs1567868785
NM_032043.3(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.508-2A>G rs876659707
NM_032043.3(BRIP1):c.627+1G>A rs587780833
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.942del (p.His314fs) rs2077993152
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter) rs1555605103
NM_058216.3(RAD51C):c.145+1G>A rs757128712
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.404+1G>A rs1555593939
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser) rs767796996
NM_058216.3(RAD51C):c.571+1del rs1327086366
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_058216.3(RAD51C):c.705+1G>A rs876658644
NM_058216.3(RAD51C):c.706-2A>C rs587780259
NM_058216.3(RAD51C):c.837+1G>C rs760235677
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.904+1G>A rs1555602159
NM_058216.3(RAD51C):c.964del (p.Arg322fs) rs1555603056
NM_058216.3(RAD51C):c.965+1G>A rs730881933
NM_058216.3(RAD51C):c.965+5G>A rs774586107
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) rs1555605074

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