ClinVar Miner

List of variants studied for DNA repair disease by Mendelics

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 742
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HGVS dbSNP
NC_000011.10:g.108222768C>T rs1056339095
NC_000017.11:g.58692541G>A rs545213879
NM_000051.3(ATM):c.-15C>T rs1204830852
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.104G>A (p.Arg35Gln) rs876659324
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1236-10_1236-3dup rs34325032
NM_000051.3(ATM):c.1236-1G>T rs1408719214
NM_000051.3(ATM):c.1236-1_1237del rs1591522664
NM_000051.3(ATM):c.1236-2A>T rs80159221
NM_000051.3(ATM):c.1236-2_1236-1del rs1591522638
NM_000051.3(ATM):c.1236-2_1236del rs1591522646
NM_000051.3(ATM):c.1236-2_1237del rs1591522650
NM_000051.3(ATM):c.1236-3del rs34325032
NM_000051.3(ATM):c.1236_1237insTT (p.Leu413fs) rs1591522681
NM_000051.3(ATM):c.1236_1237insTTTT (p.Leu413fs) rs1591522681
NM_000051.3(ATM):c.1237C>T (p.Leu413=) rs1565381686
NM_000051.3(ATM):c.1238_1239insTTT (p.Leu413dup) rs1420011788
NM_000051.3(ATM):c.1238_1239insTTTT (p.Gln414fs) rs1420011788
NM_000051.3(ATM):c.1240C>A (p.Gln414Lys) rs866521873
NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.3(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.3(ATM):c.1245_1246insTTTTTT (p.Ala416_Thr417insPhePhe) rs1591522786
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.131A>G (p.Asp44Gly) rs150143957
NM_000051.3(ATM):c.149A>G (p.Lys50Arg) rs1479478300
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2115C>T (p.Tyr705=) rs876659149
NM_000051.3(ATM):c.2124+5G>A rs1565390942
NM_000051.3(ATM):c.2159G>A (p.Arg720His) rs55830714
NM_000051.3(ATM):c.2250+22A>C rs3218692
NM_000051.3(ATM):c.2250+34A>C rs3218705
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2492A>G (p.Asp831Gly) rs587781352
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2778A>G (p.Lys926=) rs372569168
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.2921+19dup rs56112367
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.2922-8del rs373881770
NM_000051.3(ATM):c.2924A>G (p.Asn975Ser) rs730881354
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3143C>T (p.Thr1048Ile) rs1565427949
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.3270_3271AG[1] (p.Glu1091fs) rs1565429102
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.3(ATM):c.3403-13A>T rs1591636037
NM_000051.3(ATM):c.3403-14A>T rs941737393
NM_000051.3(ATM):c.3403-14_3403-13del rs1565441205
NM_000051.3(ATM):c.3403-9C>T rs375483605
NM_000051.3(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.3(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.3(ATM):c.3549T>C (p.Asn1183=) rs767377764
NM_000051.3(ATM):c.3577-30C>T rs751436997
NM_000051.3(ATM):c.3613C>T (p.Arg1205Cys) rs760928285
NM_000051.3(ATM):c.3676G>C (p.Asp1226His) rs370974808
NM_000051.3(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389
NM_000051.3(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.3(ATM):c.4012A>G (p.Ser1338Gly) rs958750512
NM_000051.3(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.3(ATM):c.4109+8C>T rs1591656404
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4236+7A>G rs1207435429
NM_000051.3(ATM):c.4437-9C>T rs766003804
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4612-11A>T rs1217349031
NM_000051.3(ATM):c.4612-12A>T rs1326401118
NM_000051.3(ATM):c.4612-13A>T rs1267116629
NM_000051.3(ATM):c.4612-19C>T rs1336477936
NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) rs587778075
NM_000051.3(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.3(ATM):c.4910-1G>C rs1060501706
NM_000051.3(ATM):c.4910-248T>C rs550591525
NM_000051.3(ATM):c.497-1G>T rs778624615
NM_000051.3(ATM):c.497-2A>T rs1278985870
NM_000051.3(ATM):c.497-2_498del rs1591499502
NM_000051.3(ATM):c.497-3_498del rs1205233530
NM_000051.3(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.3(ATM):c.501G>T (p.Leu167Phe) rs1181703620
NM_000051.3(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.3(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.3(ATM):c.506C>T (p.Ser169Phe) rs587779843
NM_000051.3(ATM):c.512A>T (p.Tyr171Phe) rs1060501616
NM_000051.3(ATM):c.5132C>A (p.Thr1711Asn) rs1291016764
NM_000051.3(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.3(ATM):c.5189G>A (p.Arg1730Gln) rs373789346
NM_000051.3(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.3(ATM):c.5306C>A (p.Thr1769Lys) rs1192250974
NM_000051.3(ATM):c.5309C>A (p.Ser1770Ter) rs121434223
NM_000051.3(ATM):c.5312G>A (p.Arg1771Lys) rs1416930012
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.5362G>A (p.Gly1788Ser) rs730881373
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5612C>T (p.Thr1871Ile) rs538452060
NM_000051.3(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.3(ATM):c.5639C>A (p.Thr1880Lys) rs587780628
NM_000051.3(ATM):c.5658T>C (p.Pro1886=) rs940182945
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.3(ATM):c.5757_5761del (p.Lys1920fs) rs1591732424
NM_000051.3(ATM):c.5899A>G (p.Met1967Val) rs1060501541
NM_000051.3(ATM):c.6007-27C>T rs1164649351
NM_000051.3(ATM):c.6007-30C>T rs1425802573
NM_000051.3(ATM):c.6007-33C>T rs1191788183
NM_000051.3(ATM):c.6007-34C>T rs1591775892
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6315G>C (p.Arg2105Ser) rs587780632
NM_000051.3(ATM):c.6347+31del rs58978479
NM_000051.3(ATM):c.6348-9A>T rs1591099349
NM_000051.3(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6573-23G>T rs1591127987
NM_000051.3(ATM):c.6573-26C>A rs1591127920
NM_000051.3(ATM):c.6573-30C>T rs775413448
NM_000051.3(ATM):c.6573-31G>T rs1274213878
NM_000051.3(ATM):c.6573-31_6573-30del rs1216821271
NM_000051.3(ATM):c.6573-34C>T rs767824695
NM_000051.3(ATM):c.6573-36C>T rs759869598
NM_000051.3(ATM):c.6573-37_6573-36insTTTTTT rs1591127671
NM_000051.3(ATM):c.6573-41_6573-40del rs758339884
NM_000051.3(ATM):c.6573-41del rs1271045298
NM_000051.3(ATM):c.6573-42_6573-41del rs1347499229
NM_000051.3(ATM):c.6681C>T (p.Arg2227=) rs775850434
NM_000051.3(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6929G>A (p.Ser2310Asn) rs1381019767
NM_000051.3(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.3(ATM):c.718C>T (p.Leu240Phe) rs1210038351
NM_000051.3(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
NM_000051.3(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.3(ATM):c.7262A>C (p.Lys2421Thr) rs1360453074
NM_000051.3(ATM):c.7316T>C (p.Val2439Ala) rs776266049
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.75A>G (p.Lys25=) rs1591446716
NM_000051.3(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.3(ATM):c.7630-29G>T rs1591170490
NM_000051.3(ATM):c.7630-37G>T rs1591170392
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7789-15G>T rs781449587
NM_000051.3(ATM):c.7789-8A>T rs1591177900
NM_000051.3(ATM):c.8010+1del rs876659350
NM_000051.3(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8151+8T>C rs768069197
NM_000051.3(ATM):c.8152-50T>C rs762648668
NM_000051.3(ATM):c.8268+1G>T rs876658957
NM_000051.3(ATM):c.8269-14A>T rs114320959
NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.3(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.3(ATM):c.8585-2A>C rs1060501700
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.865A>G (p.Ile289Val) rs1555067259
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8734A>G (p.Arg2912Gly) rs376676328
NM_000051.3(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.3(ATM):c.902-22A>C rs766650801
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.946T>C (p.Tyr316His) rs142317485
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1049C>T (p.Ala350Val) rs375049090
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) rs79220522
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln) rs779780896
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.4(ATM):c.2125-48T>C rs371067508
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala) rs1565394509
NM_000051.4(ATM):c.2167G>T (p.Val723Leu) rs1419404231
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser) rs1565394820
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.2336T>C (p.Met779Thr) rs587778066
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951
NM_000051.4(ATM):c.2466+5G>T rs1064795969
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln) rs1565416001
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022
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.2770C>T (p.Arg924Trp) rs55723361
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828
NM_000051.4(ATM):c.2921+4A>C rs1565424660
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.4(ATM):c.3154-5C>T rs55719759
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val) rs1565439583
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro) rs1555093536
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.4(ATM):c.395C>T (p.Ser132Phe) rs750969764
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser) rs1565454896
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.4(ATM):c.4151A>G (p.His1384Arg) rs757172522
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4777-6T>C rs1565465980
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.4(ATM):c.496+4T>C rs587781375
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys) rs1565474287
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.4(ATM):c.520C>T (p.Leu174Phe) rs1565369274
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe) rs1565479431
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe) rs149362482
NM_000051.4(ATM):c.55A>G (p.Arg19Gly) rs1565344118
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly) rs786202089
NM_000051.4(ATM):c.5966T>G (p.Leu1989Trp) rs1565493603
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.6134C>A (p.Ala2045Asp) rs879254147
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.4(ATM):c.6185C>A (p.Ala2062Glu) rs1565499989
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly) rs1565503023
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr) rs779611511
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059
NM_000051.4(ATM):c.6677T>C (p.Leu2226Pro) rs1565518489
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu) rs876660730
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.4(ATM):c.7540_7541TA[1] (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7630-2A>C rs587779866
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser) rs759392666
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019
NM_000051.4(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met) rs730881321
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser) rs764906663
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His) rs774171813
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe) rs786203542
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp) rs1565582275
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000051.4(ATM):c.969A>G (p.Ile323Met) rs1565375220
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1088-35C>T rs1359919212
NM_000057.4(BLM):c.1088-38C>T rs758949040
NM_000057.4(BLM):c.1088-39C>T rs878957002
NM_000057.4(BLM):c.1088-40T>C rs184128669
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp) rs1596228991
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) rs769498398
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe) rs200688933
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala) rs1596229797
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.4(BLM):c.14C>T (p.Pro5Leu) rs1567034056
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.1613C>T (p.Ala538Val) rs778593808
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro) rs1567042153
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.4(BLM):c.1972A>G (p.Ile658Val) rs1567042248
NM_000057.4(BLM):c.199G>A (p.Val67Ile) rs991350762
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2074+56G>A rs942432763
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2207_2209del (p.Tyr736del) rs750667270
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs) rs758886088
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro) rs780538610
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.2362C>G (p.Leu788Val) rs149754073
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) rs749632465
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr) rs763918749
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) rs758692622
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser) rs1567052169
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs) rs1567052178
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys) rs777842626
NM_000057.4(BLM):c.2663-2A>G rs1567053170
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.296_297CA[1] (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.3019+17T>C rs532036885
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr) rs1567058281
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr) rs1060500647
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) rs1567060305
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000057.4(BLM):c.3875-6T>C rs1021714718
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr) rs761320085
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter) rs1567068960
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr) rs1567069030
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.4(BLM):c.532G>A (p.Val178Ile) rs1191794374
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) rs569086568
NM_000057.4(BLM):c.615G>C (p.Lys205Asn) rs28903082
NM_000057.4(BLM):c.635C>T (p.Ser212Phe) rs777938065
NM_000057.4(BLM):c.645C>G (p.Ser215Arg) rs56218710
NM_000057.4(BLM):c.813_815GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.842A>G (p.His281Arg) rs202042636
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889
NM_000057.4(BLM):c.963G>A (p.Thr321=) rs779461745
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000122.1(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521
NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) rs34295337
NM_000122.2(ERCC3):c.1828-32A>T rs773954881
NM_000122.2(ERCC3):c.1828-33C>T rs745775695
NM_000122.2(ERCC3):c.1828-35C>T rs1444307407
NM_000122.2(ERCC3):c.1828-36C>T rs113416031
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) rs1404157087
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670
NM_000123.3(ERCC5):c.3157= (p.Arg1053=) rs9514066
NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000123.4(ERCC5):c.838_839AG[3] (p.Val281fs) rs1595382501
NM_000135.4(FANCA):c.*1C>T rs370357192
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu) rs17232246
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000136.3(FANCC):c.-79+98A>G rs1408056644
NM_000136.3(FANCC):c.-87G>A rs1051113986
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) rs1588070592
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071
NM_000136.3(FANCC):c.1155-29A>G rs759352163
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+306C>T rs185023012
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1534-18C>T rs1289718209
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys) rs1588008066
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+11G>C rs1588353233
NM_000136.3(FANCC):c.166-5C>T rs753820400
NM_000136.3(FANCC):c.166-7T>C rs369052148
NM_000136.3(FANCC):c.166-9C>G rs372507085
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) rs527289778
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser) rs777111154
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000136.3(FANCC):c.687-5G>T rs767811745
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu) rs769649289
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1905G>A (p.Ala635=) rs145835916
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.3(ERCC2):c.946C>G (p.Gln316Glu) rs757790912
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) rs1599725250
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421
NM_001018115.3(FANCD2):c.1135-25G>A rs201770712
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741
NM_001018115.3(FANCD2):c.2494+95C>A rs1575797993
NM_001018115.3(FANCD2):c.2494+97T>A rs1575797996
NM_001018115.3(FANCD2):c.2494+98C>A rs1575798002
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251
NM_001018115.3(FANCD2):c.3777+83_3777+86del rs773716319
NM_001024688.2(NBN):c.-141_-140del rs767454740
NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly) rs1588892169
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.3706G>A (p.Val1236Ile) rs377165815
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001114636.1(FANCL):c.1036-6T>C rs377052216
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026
NM_001330368.2(C11orf65):c.640+20440del rs1555152058
NM_001330368.2(C11orf65):c.640+20471G>T rs1591387978
NM_001330368.2(C11orf65):c.641-10939dup rs587782554
NM_001330368.2(C11orf65):c.641-17004T>C rs1591133274
NM_001330368.2(C11orf65):c.641-22452A>G rs765654550
NM_001330368.2(C11orf65):c.641-23777A>C rs1196903858
NM_001330368.2(C11orf65):c.641-23778C>G rs267606669
NM_001330368.2(C11orf65):c.641-23819C>G rs1555125501
NM_001330368.2(C11orf65):c.641-24853G>C rs1591184384
NM_001330368.2(C11orf65):c.641-26890_641-26886del rs730881294
NM_001330368.2(C11orf65):c.641-3393_641-3392insTTTTTTTTT rs1591758642
NM_001330368.2(C11orf65):c.641-36736del rs1565563579
NM_001351834.2(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_002485.4(NBN):c.-26G>A rs201392451
NM_002485.4(NBN):c.1198G>A (p.Ala400Thr) rs551602980
NM_002485.4(NBN):c.120G>T (p.Ser40=) rs774989816
NM_002485.4(NBN):c.1591A>G (p.Ile531Val) rs587782330
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.1902T>G (p.Ala634=) rs876660052
NM_002485.4(NBN):c.2029G>A (p.Asp677Asn) rs730881856
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.37+2dup rs876658183
NM_002485.4(NBN):c.37+5G>A rs116735828
NM_002485.4(NBN):c.584+7T>A rs1057523869
NM_002485.4(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly) rs1185542329
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu) rs755805461
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys) rs776900339
NM_002485.5(NBN):c.171+4T>C rs587782290
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566
NM_002485.5(NBN):c.1914+2_1914+3del rs1586043528
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser) rs1563513091
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr) rs186371605
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.5(NBN):c.320+40G>T rs749797574
NM_002485.5(NBN):c.38-10T>A rs556807466
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.5(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.5(NBN):c.702+1del rs1586088347
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436
NM_002485.5(NBN):c.806G>C (p.Cys269Ser) rs768822147
NM_002485.5(NBN):c.80G>T (p.Gly27Val) rs755171159
NM_002485.5(NBN):c.89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768
NM_002485.5(NBN):c.97A>G (p.Ile33Val) rs1563584435
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358
NM_004628.5(XPC):c.706A>G (p.Ile236Val) rs750767012
NM_004628.5(XPC):c.90_92GGA[4] (p.Glu34del) rs750450365
NM_004629.2(FANCG):c.770G>A (p.Arg257His) rs372234656
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg) rs765722724
NM_005236.2(ERCC4):c.1606G>C (p.Val536Leu) rs143347563
NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser) rs61760160
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933
NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295
NM_005236.3(ERCC4):c.1102+36dup rs761458435
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412
NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln) rs142527605
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637
NM_005431.2(XRCC2):c.374_377ACTT[1] (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.39+8C>G rs200363289
NM_005431.2(XRCC2):c.40-16T>C rs41274991
NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu) rs143856570
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871
NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln) rs762828701
NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu) rs946075316
NM_005431.2(XRCC2):c.714G>C (p.Arg238Ser) rs534746330
NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser) rs771671971
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742
NM_005590.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005591.3(MRE11):c.1927-2A>G rs587781822
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442
NM_005732.4(RAD50):c.1115A>G (p.Gln372Arg) rs375070140
NM_005732.4(RAD50):c.1992A>G (p.Ala664=) rs773126534
NM_005732.4(RAD50):c.282A>G (p.Ile94Met) rs786202847
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_005732.4(RAD50):c.3037-6C>T rs1209508205
NM_006502.2(POLH):c.626G>T (p.Gly209Val) rs2307456
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.778G>C (p.Val260Leu) rs1573514956
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu) rs28522910
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser) rs1594799862
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val) rs755563315
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys) rs139074680
NM_021922.2(FANCE):c.1316G>T (p.Gly439Val) rs776298967
NM_021922.3(FANCE):c.248+2T>C rs1581696699
NM_032043.2(BRIP1):c.205+1del rs1057517648
NM_032043.2(BRIP1):c.2990_2993delCAAA rs771028677
NM_032043.2(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.2(BRIP1):c.720del (p.Lys240fs) rs1567838246
NM_032043.2(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.-22C>A rs377620948
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly) rs730881633
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met) rs927733243
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.1473+6A>G rs587780827
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1629-3T>C rs587780828
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
NM_032043.3(BRIP1):c.1935+5G>A rs1209289625
NM_032043.3(BRIP1):c.1936-2A>C rs878855143
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.3(BRIP1):c.2379+5G>C rs1567779316
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.3(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728
NM_032043.3(BRIP1):c.380-5A>G rs587782131
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.3(BRIP1):c.518G>A (p.Arg173His) rs761432927
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys) rs758851721
NM_032043.3(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly) rs878855158
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu) rs1380876424
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val) rs1596528058
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys) rs772190416
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala) rs745508761
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn) rs1596520868
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly) rs747230215
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter) rs1596520443
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs) rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs) rs1596519854
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070
NM_032444.4(SLX4):c.4881del (p.Thr1628fs) rs1596515638
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser) rs771897046
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287
NM_033084.5(FANCD2):c.1122A>G (p.Val374=) rs34046352
NM_033084.5(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.182C>T (p.Thr61Met) rs35110529
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.2022-5C>T rs4019784
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_058216.3(RAD51C):c.-2C>T rs876658796
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
NM_058216.3(RAD51C):c.1026+43C>T rs750859385
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602
NM_058216.3(RAD51C):c.145+11C>G rs1263551026
NM_058216.3(RAD51C):c.145+12T>G rs377297129
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.146-3C>T rs765143155
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val) rs749498443
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile) rs769053886
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_058216.3(RAD51C):c.571+4A>G rs587780257
NM_058216.3(RAD51C):c.572-17G>T rs193023469
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg) rs876659009
NM_173472.2(FANCD2OS):c.43+5429_43+5434del rs766605179
NM_182649.2(PCNA):c.443G>C (p.Cys148Ser) rs1274412848

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