ClinVar Miner

Variants with conflicting interpretations "likely benign" from Color Health, Inc and "uncertain significance" from any submitter

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 840
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HGVS dbSNP
NC_000019.10:g.11089452G>T
NM_000038.6(APC):c.1276G>T (p.Ala426Ser) rs200598389
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.6(APC):c.1958+1_1958+4dup rs1060503356
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993
NM_000038.6(APC):c.220+4G>A rs973491846
NM_000038.6(APC):c.2222A>G (p.Asn741Ser) rs150209825
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) rs730881244
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala) rs587780597
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del) rs587782888
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del) rs587782002
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.6(APC):c.5774C>A (p.Pro1925His) rs762682111
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000038.6(APC):c.8141G>A (p.Arg2714His) rs747362422
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser) rs758044862
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537
NM_000051.3(ATM):c.1138T>A (p.Tyr380Asn) rs34083085
NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) rs201719927
NM_000051.3(ATM):c.1464G>T (p.Trp488Cys) rs377597949
NM_000051.3(ATM):c.1803-4G>A rs876659300
NM_000051.3(ATM):c.1855A>C (p.Asn619His) rs140882609
NM_000051.3(ATM):c.1888G>A (p.Val630Met) rs148191382
NM_000051.3(ATM):c.1960C>A (p.Gln654Lys) rs528165789
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) rs2235011
NM_000051.3(ATM):c.2396C>T (p.Ala799Val) rs199954262
NM_000051.3(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.275A>C (p.Lys92Thr) rs200151849
NM_000051.3(ATM):c.2836A>G (p.Met946Val) rs587781992
NM_000051.3(ATM):c.283C>A (p.Gln95Lys) rs587781545
NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.3(ATM):c.2887A>G (p.Met963Val) rs374353016
NM_000051.3(ATM):c.3016A>G (p.Met1006Val) rs139893395
NM_000051.3(ATM):c.3190A>G (p.Met1064Val) rs79431304
NM_000051.3(ATM):c.3242A>G (p.Asn1081Ser) rs368111672
NM_000051.3(ATM):c.3295G>A (p.Asp1099Asn) rs372966951
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3449G>C (p.Arg1150Thr) rs555219189
NM_000051.3(ATM):c.3614G>A (p.Arg1205His) rs769106895
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.4612-4T>G rs569983068
NM_000051.3(ATM):c.4703A>G (p.His1568Arg) rs368830730
NM_000051.3(ATM):c.4853G>A (p.Arg1618Gln) rs765759912
NM_000051.3(ATM):c.4871A>G (p.His1624Arg) rs56354559
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.3(ATM):c.5089A>G (p.Thr1697Ala) rs142455912
NM_000051.3(ATM):c.5178-4dup rs747750958
NM_000051.3(ATM):c.5320-4C>G rs1316146972
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.6101G>A (p.Arg2034Gln) rs3218670
NM_000051.3(ATM):c.6198+5A>G rs771047560
NM_000051.3(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.3(ATM):c.670A>G (p.Lys224Glu) rs145053092
NM_000051.3(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7618G>A (p.Val2540Ile) rs35203200
NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) rs377648506
NM_000051.3(ATM):c.8787-5T>C rs1479499265
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.4(ATM):c.496+4T>C rs587781375
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469
NM_000051.4(ATM):c.7092A>G (p.Ala2364=) rs1591150359
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000059.3(BRCA2):c.10024G>A (p.Glu3342Lys) rs28897761
NM_000059.3(BRCA2):c.10070C>T (p.Thr3357Ile) rs80358388
NM_000059.3(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389
NM_000059.3(BRCA2):c.10082A>C (p.Gln3361Pro) rs751250810
NM_000059.3(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390
NM_000059.3(BRCA2):c.10120A>G (p.Thr3374Ala) rs80358395
NM_000059.3(BRCA2):c.10238C>A (p.Thr3413Lys) rs730881584
NM_000059.3(BRCA2):c.10249T>C (p.Tyr3417His) rs535952730
NM_000059.3(BRCA2):c.1244A>G (p.His415Arg) rs80358417
NM_000059.3(BRCA2):c.1427C>G (p.Ser476Cys) rs80358431
NM_000059.3(BRCA2):c.1441A>G (p.Ile481Val) rs760559435
NM_000059.3(BRCA2):c.1630A>G (p.Thr544Ala) rs80358447
NM_000059.3(BRCA2):c.1666A>G (p.Asn556Asp) rs587781794
NM_000059.3(BRCA2):c.1838T>G (p.Leu613Arg) rs587780646
NM_000059.3(BRCA2):c.2014A>G (p.Arg672Gly) rs587781647
NM_000059.3(BRCA2):c.215A>G (p.Asn72Ser) rs276174818
NM_000059.3(BRCA2):c.2348T>G (p.Val783Gly) rs768143929
NM_000059.3(BRCA2):c.257T>C (p.Leu86Pro) rs572782576
NM_000059.3(BRCA2):c.2679A>G (p.Gln893=) rs786203640
NM_000059.3(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530
NM_000059.3(BRCA2):c.2813C>A (p.Ala938Glu) rs55773834
NM_000059.3(BRCA2):c.28A>G (p.Thr10Ala) rs786203080
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548
NM_000059.3(BRCA2):c.3431T>G (p.Val1144Gly) rs80358587
NM_000059.3(BRCA2):c.343A>G (p.Lys115Glu) rs56242644
NM_000059.3(BRCA2):c.3458A>G (p.Lys1153Arg) rs80358594
NM_000059.3(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365
NM_000059.3(BRCA2):c.3749A>G (p.Glu1250Gly) rs56400215
NM_000059.3(BRCA2):c.3767A>G (p.His1256Arg) rs80358618
NM_000059.3(BRCA2):c.4316C>A (p.Ala1439Asp) rs80358667
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.4703A>G (p.Lys1568Arg) rs80358699
NM_000059.3(BRCA2):c.497A>T (p.His166Leu) rs876658364
NM_000059.3(BRCA2):c.5200G>A (p.Glu1734Lys) rs786202543
NM_000059.3(BRCA2):c.521G>A (p.Arg174His) rs80358747
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766
NM_000059.3(BRCA2):c.5659A>G (p.Thr1887Ala) rs786202618
NM_000059.3(BRCA2):c.5663A>G (p.Lys1888Arg) rs80358791
NM_000059.3(BRCA2):c.5714A>G (p.His1905Arg) rs80358796
NM_000059.3(BRCA2):c.5728_5730del (p.Asn1910del) rs28897736
NM_000059.3(BRCA2):c.5969A>C (p.Asp1990Ala) rs148618542
NM_000059.3(BRCA2):c.5975C>T (p.Ser1992Leu) rs80358830
NM_000059.3(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867
NM_000059.3(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581
NM_000059.3(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873
NM_000059.3(BRCA2):c.6475C>G (p.Gln2159Glu) rs398122558
NM_000059.3(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421
NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu) rs80358887
NM_000059.3(BRCA2):c.6613G>A (p.Val2205Met) rs80358889
NM_000059.3(BRCA2):c.6691G>A (p.Ala2231Thr) rs758379999
NM_000059.3(BRCA2):c.6714T>G (p.Asp2238Glu) rs28897742
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.6892G>A (p.Glu2298Lys) rs80358914
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7222C>T (p.Pro2408Ser) rs398122577
NM_000059.3(BRCA2):c.7241C>T (p.Ser2414Leu) rs80358951
NM_000059.3(BRCA2):c.7241_7242inv (p.Ser2414Leu)
NM_000059.3(BRCA2):c.7331A>T (p.Asp2444Val) rs431825352
NM_000059.3(BRCA2):c.7354A>G (p.Asn2452Asp) rs398122580
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.3(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.3(BRCA2):c.8113A>G (p.Ser2705Gly) rs756105620
NM_000059.3(BRCA2):c.8435G>A (p.Gly2812Glu) rs80359091
NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132
NM_000059.3(BRCA2):c.8866G>C (p.Glu2956Gln) rs142040996
NM_000059.3(BRCA2):c.9477C>A (p.Phe3159Leu) rs80359221
NM_000059.3(BRCA2):c.9616C>G (p.Gln3206Glu) rs80359233
NM_000059.3(BRCA2):c.9632C>A (p.Thr3211Lys) rs730881583
NM_000059.3(BRCA2):c.9839C>A (p.Pro3280His) rs80359246
NM_000059.3(BRCA2):c.9934A>G (p.Ile3312Val) rs80359254
NM_000059.3(BRCA2):c.9952A>C (p.Asn3318His) rs80359256
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp) rs863224585
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del) rs80359360
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val) rs80358571
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del) rs276174837
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr) rs80358678
NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del) rs276174851
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly) rs80359090
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser) rs80359122
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr) rs56204128
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220
NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala) rs786204284
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237
NM_000077.4(CDKN2A):c.168C>T (p.Ser56=) rs771138120
NM_000077.4(CDKN2A):c.197A>G (p.His66Arg) rs756750256
NM_000077.4(CDKN2A):c.225C>G (p.Pro75=) rs762397298
NM_000077.4(CDKN2A):c.315C>A (p.Asp105Glu) rs763269347
NM_000077.4(CDKN2A):c.318G>A (p.Val106=) rs199888003
NM_000077.4(CDKN2A):c.339G>A (p.Leu113=) rs575031539
NM_000077.4(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.2287C>T (p.Pro763Ser) rs771671892
NM_000090.3(COL3A1):c.3117T>C (p.Ser1039=) rs1559061716
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.1821T>C (p.Asp607=) rs149133920
NM_000138.4(FBN1):c.1884C>T (p.Cys628=) rs150421653
NM_000138.4(FBN1):c.2979C>T (p.Cys993=) rs150126098
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3590-8T>C rs140600
NM_000138.4(FBN1):c.3936C>T (p.Ser1312=) rs779913610
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.538+4A>G rs375721252
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5788+4C>A rs577301285
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016
NM_000138.4(FBN1):c.7560G>A (p.Thr2520=) rs760425899
NM_000138.4(FBN1):c.7820-4G>A rs750036723
NM_000138.4(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8310C>T (p.His2770=) rs112189340
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.5(FBN1):c.6314-15G>A rs200841830
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000169.2(GLA):c.755G>C (p.Arg252Thr) rs147026639
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.3(GLA):c.639+6A>C rs200096940
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.1063G>A (p.Gly355Ser) rs587778531
NM_000179.2(MSH6):c.1364A>C (p.Asn455Thr) rs200938360
NM_000179.2(MSH6):c.1565A>G (p.Gln522Arg) rs63751009
NM_000179.2(MSH6):c.1746T>G (p.Phe582Leu) rs201518545
NM_000179.2(MSH6):c.182C>T (p.Ala61Val) rs572336612
NM_000179.2(MSH6):c.187T>C (p.Ser63Pro) rs763702846
NM_000179.2(MSH6):c.2175C>G (p.Ile725Met) rs63750304
NM_000179.2(MSH6):c.2384T>C (p.Ile795Thr) rs202127474
NM_000179.2(MSH6):c.2413A>G (p.Ile805Val) rs928923556
NM_000179.2(MSH6):c.257C>T (p.Thr86Ile) rs768444916
NM_000179.2(MSH6):c.3173-10C>T rs587780559
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.364G>A (p.Glu122Lys) rs143036974
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.476C>T (p.Ala159Val) rs587778528
NM_000179.2(MSH6):c.643G>A (p.Val215Ile) rs145959653
NM_000179.2(MSH6):c.926C>G (p.Ser309Cys) rs544222338
NM_000179.2(MSH6):c.942C>G (p.Ser314Arg) rs150440246
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4002-4T>C rs370428032
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly) rs774162322
NM_000249.3(MLH1):c.1103C>T (p.Ser368Leu) rs201673334
NM_000249.3(MLH1):c.1136A>C (p.Tyr379Ser) rs143009528
NM_000249.3(MLH1):c.1359G>C (p.Lys453Asn) rs756099600
NM_000249.3(MLH1):c.1421G>A (p.Arg474Gln) rs63751083
NM_000249.3(MLH1):c.1460G>A (p.Arg487Gln) rs587778917
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.3(MLH1):c.2059C>A (p.Arg687=) rs63751275
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.306+3A>G rs267607731
NM_000249.3(MLH1):c.479C>T (p.Ala160Val) rs63749924
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln) rs63749900
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448
NM_000249.4(MLH1):c.94A>G (p.Ile32Val) rs2020872
NM_000251.2(MSH2):c.1099G>A (p.Val367Ile) rs80285180
NM_000251.2(MSH2):c.1159C>T (p.Leu387Phe) rs751249745
NM_000251.2(MSH2):c.1189C>G (p.Gln397Glu) rs63750611
NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln) rs146567853
NM_000251.2(MSH2):c.1387-5T>C rs757458333
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.1760-4A>G rs1060504409
NM_000251.2(MSH2):c.1837A>C (p.Asn613His) rs200147804
NM_000251.2(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.2(MSH2):c.2308A>G (p.Ile770Val) rs63750684
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.2(MSH2):c.2528G>A (p.Cys843Tyr) rs747700106
NM_000251.2(MSH2):c.2801C>A (p.Thr934Lys) rs587779969
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.512G>A (p.Arg171Lys) rs63750902
NM_000251.2(MSH2):c.51C>A (p.Val17=) rs397515879
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000251.2(MSH2):c.766G>A (p.Ala256Thr) rs377403073
NM_000251.2(MSH2):c.817G>A (p.Val273Ile) rs530814648
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=) rs758016271
NM_000256.3(MYBPC3):c.1104G>A (p.Lys368=) rs1565628536
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=) rs757832991
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.534G>T (p.Val178=) rs759249105
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454
NM_000257.4(MYH7):c.1000-7C>T rs200129563
NM_000257.4(MYH7):c.2859C>T (p.Asp953=) rs370800700
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=) rs1216521596
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664
NM_000257.4(MYH7):c.4668C>A (p.Gly1556=) rs762762532
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=) rs763538103
NM_000257.4(MYH7):c.5013C>T (p.Ile1671=) rs779978846
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=) rs747252861
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000363.5(TNNI3):c.384G>A (p.Leu128=) rs373130533
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) rs143710616
NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe) rs571485213
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573
NM_000384.3(APOB):c.12310C>A (p.Leu4104Met) rs199668351
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.1266A>G (p.Ser422=) rs752197838
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys) rs61743313
NM_000384.3(APOB):c.1280G>A (p.Arg427Gln) rs755407886
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13102C>G (p.Gln4368Glu) rs72654424
NM_000384.3(APOB):c.1310G>A (p.Arg437His)
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262
NM_000384.3(APOB):c.1470+15T>C rs185550846
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.2160C>T (p.Tyr720=) rs756184175
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.3122-6G>A rs72653071
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.3491G>A (p.Arg1164Lys) rs759845943
NM_000384.3(APOB):c.3509-11C>T rs200768300
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078
NM_000384.3(APOB):c.403A>G (p.Ile135Val) rs769296548
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val) rs143282164
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val)
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5690G>A (p.Arg1897His) rs199510126
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509
NM_000384.3(APOB):c.5863G>A (p.Val1955Met) rs368970025
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845
NM_000384.3(APOB):c.7283A>G (p.Lys2428Arg) rs1369533953
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr) rs531273434
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.3(APOB):c.8720G>A (p.Arg2907His) rs751437976
NM_000384.3(APOB):c.905-16A>C rs12720810
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys) rs574725520
NM_000384.3(APOB):c.9694A>G (p.Lys3232Glu) rs544521341
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His) rs186299244
NM_000432.3(MYL2):c.94-3C>T rs112865045
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940
NM_000455.4(STK11):c.*8C>T rs587782259
NM_000455.4(STK11):c.-1C>T rs759284466
NM_000455.4(STK11):c.1108+3G>A rs755746417
NM_000455.4(STK11):c.464+3G>A rs1060499956
NM_000455.4(STK11):c.735-6_735-2del rs759090799
NM_000455.4(STK11):c.827G>T (p.Gly276Val) rs749927908
NM_000455.4(STK11):c.863-4T>C rs778853572
NM_000455.4(STK11):c.992G>A (p.Arg331Gln) rs371264852
NM_000455.5(STK11):c.1071G>T rs556651007
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.1261_1262inv (p.Ser421Leu)
NM_000465.4(BARD1):c.-4G>A rs761863671
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) rs587782333
NM_000465.4(BARD1):c.1395+4G>T rs1025329798
NM_000465.4(BARD1):c.1448A>G (p.His483Arg) rs587781874
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala) rs587780017
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) rs753479021
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala) rs200254470
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.4(BARD1):c.1904-5G>A rs376639978
NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn) rs730881424
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491
NM_000465.4(BARD1):c.44G>T (p.Arg15Leu) rs545107676
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly) rs16852741
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305
NM_000465.4(BARD1):c.684A>G (p.Glu228=) rs780627045
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro) rs751646468
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377
NM_000527.4(LDLR):c.*19G>A rs56270417
NM_000527.4(LDLR):c.1359-6C>T
NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.4(LDLR):c.1586+15C>T rs371716068
NM_000527.4(LDLR):c.1587-11C>T rs201957233
NM_000527.4(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1988-13T>G rs200201131
NM_000527.4(LDLR):c.2055G>A (p.Pro685=) rs149126953
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.4(LDLR):c.2320G>A (p.Asp774Asn) rs138190838
NM_000527.4(LDLR):c.2324T>C (p.Val775Ala) rs780300776
NM_000527.4(LDLR):c.2358C>T (p.Ser786=) rs183255090
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.2389+7G>A
NM_000527.4(LDLR):c.2548-19G>A
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.4(LDLR):c.564C>T (p.Tyr188=) rs121908034
NM_000527.4(LDLR):c.817+9T>C
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.4(LDLR):c.858C>T (p.Ser286=) rs140241383
NM_000527.4(LDLR):c.861C>T (p.Gly287=) rs770191650
NM_000527.4(LDLR):c.982G>A (p.Val328Ile) rs768925824
NM_000527.5(LDLR):c.-13A>G rs376011618
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1846-10G>T rs368243304
NM_000527.5(LDLR):c.1863A>G (p.Thr621=)
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.5(LDLR):c.186G>A (p.Thr62=) rs55958434
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349
NM_000527.5(LDLR):c.1987+6G>C
NM_000527.5(LDLR):c.1988-5C>G rs375877599
NM_000527.5(LDLR):c.2100C>T (p.Asp700=)
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2391G>C (p.Val797=)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.5(LDLR):c.543G>A (p.Pro181=)
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.981C>T (p.His327=) rs1060499933
NM_000535.7(PMS2):c.-1C>A rs369681753
NM_000535.7(PMS2):c.-2C>T rs876658209
NM_000535.7(PMS2):c.-4A>G rs544503598
NM_000535.7(PMS2):c.-5C>A rs786202272
NM_000535.7(PMS2):c.-7T>C rs199660792
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val) rs1060503133
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.24-3T>C rs749485884
NM_000535.7(PMS2):c.24-4C>G rs2345056
NM_000535.7(PMS2):c.354-3C>T rs587782632
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.852A>G (p.Ser284=) rs766177007
NM_000535.7(PMS2):c.903+4T>C rs753803330
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696
NM_000535.7(PMS2):c.988+4A>G rs763959308
NM_000546.5(TP53):c.1120G>A (p.Gly374Ser) rs587781858
NM_000546.5(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433
NM_001035.3(RYR2):c.10725+4A>T rs116444428
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.3(RYR2):c.2719-4T>A rs397516523
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.463+6C>T rs397516533
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=) rs369323506
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873
NM_001035.3(RYR2):c.8896-9T>C rs773401697
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400
NM_001048171.1(MUTYH):c.530G>A (p.Arg177Gln) rs369677603
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066
NM_001128425.1(MUTYH):c.505-5C>T rs878854191
NM_001128425.1(MUTYH):c.691-4C>T rs1557474961
NM_001128425.1(MUTYH):c.920G>A (p.Arg307Gln) rs140156029
NM_001128425.1(MUTYH):c.997+3G>A rs864622394
NM_001195798.2(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_001276345.2(TNNT2):c.200-4C>G rs397516448
NM_001276345.2(TNNT2):c.610-10C>T rs375547142
NM_001281492.1(MSH6):c.3693_*3GACT[3] (p.Ter1231=) rs765313977
NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC rs35502531
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_002474.3(MYH11):c.1249-15G>T rs886051765
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) rs762308378
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992
NM_002474.3(MYH11):c.4293C>T (p.Asp1431=) rs143588920
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118
NM_002474.3(MYH11):c.5787-4714dup rs747392139
NM_002474.3(MYH11):c.5787-4727C>T rs745371874
NM_002485.4(NBN):c.1023C>G (p.Ser341Arg) rs756023239
NM_002485.4(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.4(NBN):c.1177T>C (p.Phe393Leu) rs941732827
NM_002485.4(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.4(NBN):c.1480C>A (p.Gln494Lys) rs587781557
NM_002485.4(NBN):c.1684G>A (p.Val562Ile) rs754651655
NM_002485.4(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.4(NBN):c.172-3C>T rs587781620
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2235-3C>T rs1554553897
NM_002485.4(NBN):c.254A>G (p.Asn85Ser) rs587780095
NM_002485.4(NBN):c.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.38-5C>T rs775244752
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.468A>C (p.Lys156Asn) rs730881858
NM_002485.4(NBN):c.481-4G>A rs754864893
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.64G>A (p.Val22Ile) rs369910645
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.798G>A (p.Pro266=) rs368786672
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002878.3(RAD51D):c.26G>C (p.Cys9Ser) rs140825795
NM_002878.3(RAD51D):c.355T>C (p.Cys119Arg) rs201313861
NM_002878.3(RAD51D):c.394G>A (p.Val132Ile) rs201141245
NM_002878.3(RAD51D):c.413A>G (p.Asn138Ser) rs201676898
NM_002878.3(RAD51D):c.668-4G>T rs1001440122
NM_002878.3(RAD51D):c.715C>T (p.Arg239Trp) rs770250516
NM_002878.3(RAD51D):c.915C>G (p.Phe305Leu) rs1316114457
NM_002878.3(RAD51D):c.932T>A (p.Ile311Asn) rs145309168
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532
NM_004329.2(BMPR1A):c.1343-3T>C rs771504880
NM_004329.2(BMPR1A):c.230+3A>G rs1060503393
NM_004329.2(BMPR1A):c.676-4A>G rs929042482
NM_004329.2(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_004360.5(CDH1):c.446T>C (p.Leu149Pro) rs780955025
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.7848G>A (p.Ser2616=) rs148798300
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=) rs1561706189
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.2019C>T (p.Gly673=) rs368325383
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627
NM_004612.4(TGFBR1):c.343+3A>G rs374717754
NM_004612.4(TGFBR1):c.575-5T>G rs1025639851
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala) rs374746213
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858
NM_004656.4(BAP1):c.1427T>C (p.Val476Ala) rs144060813
NM_004656.4(BAP1):c.1931C>T (p.Ala644Val) rs551399575
NM_004656.4(BAP1):c.1946G>A (p.Cys649Tyr) rs151308667
NM_004656.4(BAP1):c.2057-5C>T rs770925902
NM_004656.4(BAP1):c.375+4G>A rs371114912
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu) rs149158790
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995
NM_005359.6(SMAD4):c.1140-3A>C rs956212866
NM_005359.6(SMAD4):c.424+5G>A rs200772603
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.6(SMAD4):c.956-4A>G rs1295343500
NM_005902.4(SMAD3):c.1010-10T>C rs1179340088
NM_005902.4(SMAD3):c.1010-12T>C rs773629535
NM_005902.4(SMAD3):c.401-7C>T rs774268232
NM_005902.4(SMAD3):c.533-13_533-10del
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304
NM_007194.4(CHEK2):c.*2dup rs749257861
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878
NM_007194.4(CHEK2):c.846T>C (p.His282=) rs987815892
NM_007294.3(BRCA1):c.212+4T>C rs398122652
NM_007294.3(BRCA1):c.301+1G>C rs587782173
NM_007294.3(BRCA1):c.302-5T>C rs778668665
NM_007294.3(BRCA1):c.5193+3A>G rs1060502326
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr) rs397507187
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084
NM_007294.4(BRCA1):c.1581G>C (p.Lys527Asn) rs80357493
NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg) rs80357173
NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met) rs552505690
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.4(BRCA1):c.1879G>A (p.Val627Ile) rs80357425
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895
NM_007294.4(BRCA1):c.2043T>G (p.Ser681Arg) rs143920945
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147
NM_007294.4(BRCA1):c.2252T>C (p.Met751Thr) rs587781684
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser) rs80356884
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser) rs80356884
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly) rs397507201
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr) rs80357328
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal) rs80358331
NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser) rs786203689
NM_007294.4(BRCA1):c.2666C>T (p.Ser889Phe) rs769712441
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn) rs431825394
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del) rs80358333
NM_007294.4(BRCA1):c.301+1G>A rs587782173
NM_007294.4(BRCA1):c.3041T>C (p.Met1014Thr) rs80357020
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser) rs80356900
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del) rs80357575
NM_007294.4(BRCA1):c.3355A>T (p.Thr1119Ser) rs80356949
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228
NM_007294.4(BRCA1):c.3560G>A (p.Ser1187Asn) rs80356975
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala) rs80357037
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp) rs145903082
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr) rs483353090
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg) rs80357047
NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del) rs80358341
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala) rs587782606
NM_007294.4(BRCA1):c.4610A>G (p.Gln1537Arg) rs70953659
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.594-2A>C rs80358033
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro) rs80357252
NM_007294.4(BRCA1):c.997A>G (p.Thr333Ala) rs786201634
NM_012222.2(MUTYH):c.1591C>T (p.Arg531Trp) rs144616312
NM_016203.4(PRKAG2):c.*2C>T rs199559205
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=) rs767902787
NM_016203.4(PRKAG2):c.1234-6G>A rs780341115
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745
NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly) rs754797146
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.6(DSC2):c.474+5C>T rs397517400
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621
NM_024675.3(PALB2):c.-5G>T rs730881875
NM_024675.3(PALB2):c.1042C>A (p.Gln348Lys) rs375699023
NM_024675.3(PALB2):c.1054G>C (p.Glu352Gln) rs201035780
NM_024675.3(PALB2):c.1273G>A (p.Val425Met) rs576081828
NM_024675.3(PALB2):c.13C>T (p.Pro5Ser) rs377085677
NM_024675.3(PALB2):c.1506G>C (p.Lys502Asn) rs371142570
NM_024675.3(PALB2):c.1564C>T (p.Pro522Ser) rs373876101
NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu) rs142103232
NM_024675.3(PALB2):c.161A>G (p.Glu54Gly) rs730881898
NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn) rs587781954
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.2100A>T (p.Ser700=) rs757145884
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_024675.3(PALB2):c.2360C>T (p.Thr787Ile) rs201042302
NM_024675.3(PALB2):c.2474G>C (p.Arg825Thr) rs146218439
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2608G>A (p.Val870Ile) rs376641234
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) rs180177125
NM_024675.3(PALB2):c.292A>G (p.Ile98Val) rs587782831
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.3103A>G (p.Ile1035Val) rs863224783
NM_024675.3(PALB2):c.3114-5C>T rs753307725
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.48+5C>T rs1555462488
NM_024675.3(PALB2):c.829G>A (p.Asp277Asn) rs778309339
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) rs150390726
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034
NM_032043.2(BRIP1):c.-5G>A rs754270436
NM_032043.2(BRIP1):c.10A>G (p.Met4Val) rs45512093
NM_032043.2(BRIP1):c.1141-4A>G rs1226658018
NM_032043.2(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099
NM_032043.2(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349
NM_032043.2(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955
NM_032043.2(BRIP1):c.2686A>G (p.Ile896Val) rs764406913
NM_032043.2(BRIP1):c.2706A>G (p.Ile902Met) rs587780244
NM_032043.2(BRIP1):c.2804T>G (p.Val935Gly) rs4988356
NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333
NM_032043.2(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340
NM_032043.2(BRIP1):c.487C>T (p.Pro163Ser) rs1064795902
NM_032043.2(BRIP1):c.679C>G (p.Gln227Glu) rs45459799
NM_032043.2(BRIP1):c.918C>T (p.Asn306=) rs876660724
NM_032043.2(BRIP1):c.94-4A>G rs765154059
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.3(BRIP1):c.380-5A>G rs587782131
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del) rs876659379
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_058216.3(RAD51C):c.1027-3C>T rs587782459
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys) rs773998134
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406
NM_058216.3(RAD51C):c.838-5T>C rs975635861
NM_058216.3(RAD51C):c.905-5C>G rs371968149
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019
NM_174936.3(PCSK9):c.-8T>C rs886039837
NM_174936.3(PCSK9):c.10G>A (p.Val4Ile) rs186669805
NM_174936.3(PCSK9):c.1251C>A (p.His417Gln) rs143275858
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.3(PCSK9):c.1432G>A (p.Ala478Thr) rs375582388
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.3(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.3(PCSK9):c.169G>A (p.Glu57Lys) rs145886902
NM_174936.3(PCSK9):c.1863+6G>A rs568853401
NM_174936.3(PCSK9):c.2023G>A (p.Val675Ile) rs760981278
NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352
NM_174936.3(PCSK9):c.627C>T (p.Pro209=) rs375892354
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.847C>A (p.Leu283Met) rs72646510
NM_174936.3(PCSK9):c.996+8del rs768213924
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.523G>A (p.Asp175Asn)

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