ClinVar Miner

List of variants studied for DNA repair disease by Counsyl

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1596
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HGVS dbSNP
NM_000051.3(ATM):c.-111_-109delGCGinsAC rs1555051087
NM_000051.3(ATM):c.-31+595G>A rs1555051574
NM_000051.3(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.3(ATM):c.1021G>A (p.Val341Ile) rs200601781
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1065+1G>C rs201089102
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-1G>T rs876660038
NM_000051.3(ATM):c.1066-2A>C rs1555069514
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.115A>G (p.Thr39Ala) rs779297339
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1235+1G>A rs1555069881
NM_000051.3(ATM):c.1236-1G>A rs1408719214
NM_000051.3(ATM):c.1259_1264del (p.Ile420_Ser421del) rs1555070659
NM_000051.3(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.3(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.3(ATM):c.131A>G (p.Asp44Gly) rs150143957
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) rs201719927
NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) rs749036865
NM_000051.3(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_000051.3(ATM):c.1440A>C (p.Leu480Phe) rs370240037
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.1463G>A (p.Trp488Ter) rs879254093
NM_000051.3(ATM):c.1481G>A (p.Gly494Asp) rs786202233
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.153dup (p.Gly52fs) rs1555054197
NM_000051.3(ATM):c.1562_1563GA[1] (p.Glu522fs) rs587779817
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.3(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.170G>A (p.Trp57Ter) rs587779818
NM_000051.3(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.3(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.3(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.3(ATM):c.1803-2A>G rs1057517358
NM_000051.3(ATM):c.1856del (p.Asn619fs) rs1057517300
NM_000051.3(ATM):c.186-17A>G rs4987907
NM_000051.3(ATM):c.1880T>G (p.Phe627Cys) rs546087885
NM_000051.3(ATM):c.1905_1910del (p.His635_His636del) rs587781635
NM_000051.3(ATM):c.192A>G (p.Leu64=) rs587780616
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1943T>C (p.Val648Ala) rs141175037
NM_000051.3(ATM):c.1945_1947GAA[1] (p.Glu650del) rs1555073166
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.210A>T (p.Lys70Asn) rs1064793030
NM_000051.3(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2125-1G>A rs1402299151
NM_000051.3(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.3(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.3(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.3(ATM):c.2207C>T (p.Ala736Val) rs587780617
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.3(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.2336T>C (p.Met779Thr) rs587778066
NM_000051.3(ATM):c.2353C>T (p.Arg785Cys) rs587778065
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.3(ATM):c.2413C>T (p.Arg805Ter) rs780619951
NM_000051.3(ATM):c.2428A>G (p.Lys810Glu) rs201909756
NM_000051.3(ATM):c.2467-2A>C rs1555082050
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.3(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.3(ATM):c.2542G>T (p.Glu848Ter) rs879254046
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.3(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2639-7T>C rs912886321
NM_000051.3(ATM):c.2689T>A (p.Phe897Ile) rs147122522
NM_000051.3(ATM):c.2770C>T (p.Arg924Trp) rs55723361
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2839-18_2839-17insT rs730881287
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2919A>G (p.Leu973=) rs587779829
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2922-1G>T rs1555084931
NM_000051.3(ATM):c.2924A>G (p.Asn975Ser) rs730881354
NM_000051.3(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.3(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.3(ATM):c.3068del (p.Gly1023fs) rs1057516590
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.3(ATM):c.3154-1G>A rs1555085973
NM_000051.3(ATM):c.3154-2A>G rs730881357
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.318A>C (p.Lys106Asn) rs1555055319
NM_000051.3(ATM):c.3190A>G (p.Met1064Val) rs79431304
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.3(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.3(ATM):c.3253G>A (p.Val1085Ile) rs1555086177
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.3(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) rs1555090139
NM_000051.3(ATM):c.3328G>A (p.Ala1110Thr) rs147112946
NM_000051.3(ATM):c.3336T>A (p.Pro1112=) rs758784434
NM_000051.3(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3378A>G (p.Lys1126=) rs149182949
NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3402+3A>G rs786203688
NM_000051.3(ATM):c.3403-16_3403-15insA rs569564716
NM_000051.3(ATM):c.3407A>G (p.His1136Arg) rs768490475
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.3577-1G>C rs1057517226
NM_000051.3(ATM):c.3577-6G>A rs56006345
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.3(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.3(ATM):c.3628A>G (p.Met1210Val) rs138212452
NM_000051.3(ATM):c.3630G>A (p.Met1210Ile) rs587778073
NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter) rs864622490
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3747-10C>G rs775274473
NM_000051.3(ATM):c.3747-2A>G rs1057517213
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.37C>T (p.Arg13Cys) rs141586345
NM_000051.3(ATM):c.3802G>A (p.Val1268Met) rs863224564
NM_000051.3(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.3(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.3(ATM):c.3832G>A (p.Asp1278Asn) rs730881365
NM_000051.3(ATM):c.3834C>A (p.Asp1278Glu) rs534864280
NM_000051.3(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.3(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185
NM_000051.3(ATM):c.38G>A (p.Arg13His) rs778201041
NM_000051.3(ATM):c.3935_3936GA[2] (p.Glu1313fs) rs1555093684
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3964C>A (p.Leu1322Ile) rs144535256
NM_000051.3(ATM):c.3990del (p.Lys1330fs) rs1057517100
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3993+1G>T rs200196781
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.4093_4094CT[1] (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.3(ATM):c.4096_4097TG[1] (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.3(ATM):c.4149G>A (p.Ser1383=) rs749180334
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4236+8T>C rs765636697
NM_000051.3(ATM):c.4246C>T (p.Gln1416Ter) rs1057516311
NM_000051.3(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.4310G>A (p.Arg1437Lys) rs1227046364
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.4332G>A (p.Leu1444=) rs753570046
NM_000051.3(ATM):c.4356_4357TA[1] (p.Ile1453fs) rs1555097650
NM_000051.3(ATM):c.4358T>G (p.Ile1453Arg) rs587782126
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4436+10A>G rs878853509
NM_000051.3(ATM):c.4436+1G>T rs1555097894
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4437-9C>T rs766003804
NM_000051.3(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352
NM_000051.3(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.3(ATM):c.4477C>T (p.Leu1493Phe) rs377595814
NM_000051.3(ATM):c.4489_4491TTA[1] (p.Leu1498del) rs1555099818
NM_000051.3(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.3(ATM):c.4565G>A (p.Gly1522Asp) rs1555099954
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4612-1G>A rs1555100351
NM_000051.3(ATM):c.4612-2A>C rs1555100347
NM_000051.3(ATM):c.4612-32_4612-30delCTT rs113149503
NM_000051.3(ATM):c.4626G>A (p.Leu1542=) rs786202784
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.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037
NM_000051.3(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4768C>T (p.Leu1590Phe) rs35962982
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+23_4776+25delCTA rs770860526
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.4777-13T>A rs371535082
NM_000051.3(ATM):c.4777-20A>G rs3218678
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4852C>T (p.Arg1618Ter) rs762083530
NM_000051.3(ATM):c.4909+3G>A rs778685122
NM_000051.3(ATM):c.4909+4C>T rs587782125
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.4921G>C (p.Asp1641His) rs587782896
NM_000051.3(ATM):c.495_496+16del18 rs1555059522
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.497-4_497-3insT rs768748099
NM_000051.3(ATM):c.5005+14A>T rs374337879
NM_000051.3(ATM):c.5005+1G>T rs1057517427
NM_000051.3(ATM):c.5039C>T (p.Pro1680Leu) rs587782153
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5080G>A (p.Ala1694Thr) rs756197350
NM_000051.3(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer) rs1057516358
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5178-11G>A rs200876654
NM_000051.3(ATM):c.5178-1G>A rs1555105579
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5262G>T (p.Lys1754Asn) rs748900588
NM_000051.3(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.3(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_000051.3(ATM):c.5319+1G>T rs876660175
NM_000051.3(ATM):c.5319+6_5319+7delTT rs777478613
NM_000051.3(ATM):c.5320-10T>C rs864622731
NM_000051.3(ATM):c.5320-4_5323del8 rs1057516540
NM_000051.3(ATM):c.5320-5_5320-2delTCTA rs730881310
NM_000051.3(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.3(ATM):c.5354C>A (p.Pro1785His) rs1555106368
NM_000051.3(ATM):c.5410A>T (p.Ile1804Phe) rs769872474
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.5433T>A (p.Cys1811Ter) rs1555106493
NM_000051.3(ATM):c.5435C>T (p.Ala1812Val) rs199885813
NM_000051.3(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.5497-9A>G rs878853524
NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.3(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.3(ATM):c.5624G>C (p.Arg1875Pro) rs762304746
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5692C>T (p.Arg1898Ter) rs775036118
NM_000051.3(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5728C>A (p.Leu1910Ile) rs143577586
NM_000051.3(ATM):c.5762+1G>T rs869312756
NM_000051.3(ATM):c.5763-2A>T rs876659489
NM_000051.3(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.5810A>G (p.Asn1937Ser) rs1555110330
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.3(ATM):c.5825C>T (p.Ala1942Val) rs730881394
NM_000051.3(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311
NM_000051.3(ATM):c.588del (p.Gly197fs) rs1057516683
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5896dup (p.Ser1966fs) rs1555110514
NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) rs587781722
NM_000051.3(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.3(ATM):c.5918+16A>G rs3092911
NM_000051.3(ATM):c.5919-2A>C rs746623393
NM_000051.3(ATM):c.5919-2A>G rs746623393
NM_000051.3(ATM):c.5932G>T (p.Glu1978Ter) rs587779852
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.3(ATM):c.6007-10A>G rs373395916
NM_000051.3(ATM):c.6007dup (p.Asp2003Glyfs) rs1555113505
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.6095+2T>C rs1057516525
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.6198+5A>G rs771047560
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6226A>G (p.Ile2076Val) rs755973863
NM_000051.3(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.3(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.3(ATM):c.6332A>G (p.His2111Arg) rs876658300
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6348-1G>A rs1057517302
NM_000051.3(ATM):c.6396A>G (p.Leu2132=) rs370537345
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6452+2T>C rs1064795006
NM_000051.3(ATM):c.6452+5T>A rs533830556
NM_000051.3(ATM):c.6452+6A>G rs878853531
NM_000051.3(ATM):c.6480_6481GC[3] (p.Ser2162fs) rs1057516905
NM_000051.3(ATM):c.649A>G (p.Ile217Val) rs547045780
NM_000051.3(ATM):c.6572+12G>T rs3218677
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6572+4T>C rs587780636
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.6592_6593CT[2] (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.3(ATM):c.659C>T (p.Ala220Val) rs145355104
NM_000051.3(ATM):c.663-2A>G rs886041931
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.6650_6664del (p.Phe2217_Pro2222delinsSer) rs1555119092
NM_000051.3(ATM):c.6739A>G (p.Ile2247Val) rs587781521
NM_000051.3(ATM):c.6814G>A (p.Glu2272Lys) rs886039471
NM_000051.3(ATM):c.6829C>G (p.Gln2277Glu) rs1252906835
NM_000051.3(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.3(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.6888A>T (p.Ala2296=) rs200735689
NM_000051.3(ATM):c.6895T>C (p.Phe2299Leu) rs1555119886
NM_000051.3(ATM):c.692A>G (p.His231Arg) rs587782229
NM_000051.3(ATM):c.6975+5_6975+9del5 rs1555120086
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.6996_6999TACA[1] (p.Tyr2334fs) rs786203421
NM_000051.3(ATM):c.6997dup (p.Thr2333fs) rs587781299
NM_000051.3(ATM):c.7004C>T (p.Thr2335Ile) rs3092831
NM_000051.3(ATM):c.7089+2T>G rs1057516235
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7123_7125AGT[1] (p.Ser2376del) rs1555121978
NM_000051.3(ATM):c.712A>G (p.Ile238Val) rs754275014
NM_000051.3(ATM):c.7131T>C (p.Asp2377=) rs373309822
NM_000051.3(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.3(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.3(ATM):c.72+1G>A rs786204088
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7291A>G (p.Lys2431Glu) rs864622563
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7381C>T (p.Arg2461Cys) rs201314561
NM_000051.3(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.7515+20A>G rs80124497
NM_000051.3(ATM):c.7517_7520delGAGA rs587781905
NM_000051.3(ATM):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.3(ATM):c.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.3(ATM):c.7552C>T (p.Pro2518Ser) rs374876799
NM_000051.3(ATM):c.7618G>A (p.Val2540Ile) rs35203200
NM_000051.3(ATM):c.7629+2dup rs1555124141
NM_000051.3(ATM):c.7629_7629+4del rs876660041
NM_000051.3(ATM):c.7630-2A>C rs587779866
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7703_7704GA[1] (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.3(ATM):c.7767del (p.Lys2589fs) rs1057517025
NM_000051.3(ATM):c.7778A>G (p.Gln2593Arg) rs587779867
NM_000051.3(ATM):c.7785T>C (p.Asp2595=) rs34838175
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7789G>T (p.Asp2597Tyr) rs1555125212
NM_000051.3(ATM):c.7796del (p.Thr2599fs) rs1555125223
NM_000051.3(ATM):c.7836_7837GA[3] (p.Pro2614fs) rs730881293
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.3(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) rs1450394308
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.7927+5delG rs786204437
NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.3(ATM):c.7984G>A (p.Val2662Ile) rs1315805984
NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.3(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.3(ATM):c.8010+185_8010+186delCC rs984385407
NM_000051.3(ATM):c.8010+30dup rs3218702
NM_000051.3(ATM):c.8011-6T>G rs762092284
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.8071C>T (p.Arg2691Cys) rs531980488
NM_000051.3(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.3(ATM):c.8100A>G (p.Lys2700=) rs778601472
NM_000051.3(ATM):c.8106dup (p.Asp2703fs) rs1555127231
NM_000051.3(ATM):c.8113G>A (p.Val2705Ile) rs587779870
NM_000051.3(ATM):c.8120C>G (p.Ser2707Cys) rs748016261
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8155C>T (p.Arg2719Cys) rs138526014
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8187A>C (p.Gln2729His) rs587781946
NM_000051.3(ATM):c.8261C>T (p.Thr2754Ile) rs587779871
NM_000051.3(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8268+6T>A rs747153940
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8314G>A (p.Gly2772Arg) rs1064794239
NM_000051.3(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.3(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.3(ATM):c.8385_8394TTTCAGTGCC[1] (p.Phe2799fs) rs786202800
NM_000051.3(ATM):c.8418+1G>A rs766533795
NM_000051.3(ATM):c.8419-19A>G rs12279930
NM_000051.3(ATM):c.8428A>C (p.Lys2810Gln) rs730881325
NM_000051.3(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.3(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.3(ATM):c.8558C>G (p.Thr2853Arg) rs141534716
NM_000051.3(ATM):c.8581A>G (p.Ile2861Val) rs1555138472
NM_000051.3(ATM):c.8584+10T>C rs373321041
NM_000051.3(ATM):c.8584+2T>C rs730881326
NM_000051.3(ATM):c.8584+6C>G rs863224300
NM_000051.3(ATM):c.8585-2A>G rs1060501700
NM_000051.3(ATM):c.8586del (p.Gly2863fs) rs1555139467
NM_000051.3(ATM):c.8596C>G (p.Leu2866Val) rs368666328
NM_000051.3(ATM):c.8629T>C (p.Leu2877=) rs730881279
NM_000051.3(ATM):c.8671+2T>C rs1057516229
NM_000051.3(ATM):c.8672G>T (p.Gly2891Val) rs748192003
NM_000051.3(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.3(ATM):c.8741T>C (p.Ile2914Thr) rs780303327
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8786+1G>T rs17174393
NM_000051.3(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.3(ATM):c.8810T>C (p.Val2937Ala) rs587782149
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
NM_000051.3(ATM):c.8850+4A>C rs587782335
NM_000051.3(ATM):c.8851-1G>T rs1057516537
NM_000051.3(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.3(ATM):c.8987+10A>G rs1060504308
NM_000051.3(ATM):c.8987+3_8987+35del33 rs774188684
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8988-1G>C rs730881386
NM_000051.3(ATM):c.8988-2A>C rs786202087
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.3(ATM):c.901+1G>A rs748840480
NM_000051.3(ATM):c.901+6A>C rs1555067357
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.902G>A (p.Gly301Asp) rs202208861
NM_000051.3(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000051.3(ATM):c.9109C>T (p.Gln3037Ter) rs1555152009
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219
NM_000051.3(ATM):c.9157A>T (p.Lys3053Ter) rs1555152104
NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000051.3(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000057.3(BLM):c.2407-7delC rs769184675
NM_000057.3(BLM):c.2407-9del rs747699258
NM_000057.3(BLM):c.98+3_98+6delAAGT rs1555418015
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.4(BLM):c.1081_1082TG[1] (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1088-1G>A rs1555419696
NM_000057.4(BLM):c.1114del (p.Ile373fs) rs1555419704
NM_000057.4(BLM):c.1151del (p.Asp384fs) rs1555419724
NM_000057.4(BLM):c.1210del (p.Arg404fs) rs1555419742
NM_000057.4(BLM):c.1220+1G>A rs1555419748
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000057.4(BLM):c.129_130insTAT (p.Asp44_Asn45insTyr) rs778786003
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) rs1555419934
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs) rs1057517266
NM_000057.4(BLM):c.1740del (p.Thr581fs) rs1057517432
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1795del (p.Arg599fs) rs1057517431
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs) rs1555419980
NM_000057.4(BLM):c.1883-2A>G rs1555420142
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser) rs587778110
NM_000057.4(BLM):c.1964_1966TGA[1] (p.Met656del) rs1555420164
NM_000057.4(BLM):c.1978C>T (p.His660Tyr) rs139688226
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.1A>C (p.Met1Leu) rs1215497457
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471
NM_000057.4(BLM):c.2289_2290AT[1] (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.4(BLM):c.2341_2342GA[3] (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2347_2348CT[3] (p.Tyr784fs) rs1555420844
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2407-1G>A rs1555420871
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024
NM_000057.4(BLM):c.2555+1G>T rs1555420917
NM_000057.4(BLM):c.264_266CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs) rs1057516452
NM_000057.4(BLM):c.2807del (p.Asn936fs) rs1245531016
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter) rs1057516700
NM_000057.4(BLM):c.2824-1G>C rs1555423062
NM_000057.4(BLM):c.2824-2A>T rs745538883
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.296_297CA[1] (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.3022del (p.Glu1008fs) rs1057516719
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707
NM_000057.4(BLM):c.318_320ATT[1] (p.Leu108del) rs1555418313
NM_000057.4(BLM):c.3210+4A>G rs776621429
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu) rs762716289
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter) rs1057516774
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter) rs1057516728
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3875-2A>G rs150421256
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.4(BLM):c.3901del (p.Leu1301fs) rs1555425063
NM_000057.4(BLM):c.3917del (p.Gly1306fs) rs764086459
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter) rs1555425074
NM_000057.4(BLM):c.3956del (p.Ile1319fs) rs1555425080
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) rs1555425105
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.4123del (p.Ser1375fs) rs1555425410
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter) rs1555425417
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.4(BLM):c.443dup (p.Leu148fs) rs1057516297
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) rs773427744
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup) rs1555418362
NM_000057.4(BLM):c.543del (p.Ser181fs) rs1555418380
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.606_607CA[1] (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.662_665del (p.Thr221fs) rs1057517229
NM_000057.4(BLM):c.678_680dup (p.Asp227dup) rs1555418424
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.768_769CT[2] (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.99-1G>C rs897262346
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000082.3(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-1G>C rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) rs750622098
NM_000082.3(ERCC8):c.1122+1G>A rs1482664387
NM_000082.3(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.3(ERCC8):c.1137del (p.Gln380fs) rs1343747301
NM_000082.3(ERCC8):c.1181_1183AAG[1] (p.Glu395del) rs754890794
NM_000082.3(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.3(ERCC8):c.173+1G>A rs1476095782
NM_000082.3(ERCC8):c.276-2A>G rs1554074597
NM_000082.3(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518
NM_000082.3(ERCC8):c.313_314del (p.Val105fs) rs1404477615
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000082.3(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.3(ERCC8):c.399+1G>A rs774047625
NM_000082.3(ERCC8):c.439_441CAT[1] (p.His148del) rs1249878855
NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) rs281875222
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.482-2A>G rs1554073420
NM_000082.3(ERCC8):c.551-1G>A rs1554073316
NM_000082.3(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.3(ERCC8):c.600dup (p.Ile201fs) rs1468231556
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.618-1G>A rs201464610
NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.3(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.3(ERCC8):c.719-2A>G rs1554073117
NM_000082.3(ERCC8):c.719-2A>T rs1554073117
NM_000082.3(ERCC8):c.77+2T>G rs1554076239
NM_000082.3(ERCC8):c.843+1G>T rs1305258765
NM_000082.3(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000124.3(ERCC6):c.2073_2074ins15 (p.?) rs1554788383
NM_000124.3(ERCC6):c.3607_3608ins26 (p.?) rs786205172
NM_000124.4(ERCC6):c.-14-2A>G rs760663515
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134_1136GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1137_1145GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Lys405_Pro406insGln) rs772545860
NM_000124.4(ERCC6):c.124_126GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1526+1G>T rs371739894
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2287-2A>G rs754978734
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2481_2483AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793
NM_000124.4(ERCC6):c.257_258GC[1] (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2830-2A>G rs373227647
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3111_3113AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3435_3437dup (p.Ser1146_Ile1147insArg) rs1435512927
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3573_3575AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3589_3590GA[3] (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4063-1G>C rs766980240
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643
NM_000124.4(ERCC6):c.422+1G>A rs1198472093
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.3(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1470+1G>A rs1555556175
NM_000135.4(FANCA):c.1474_1475CA[1] (p.Ile493fs) rs1555554788
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-1G>C rs755104393
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2A>T rs183350210
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
NM_000135.4(FANCA):c.2015-1G>A rs1555548632
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2492_2494TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529_2530CT[3] (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-2A>C rs947311062
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) rs1555540048
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3349-3C>T rs373861415
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) rs1555536361
NM_000135.4(FANCA):c.3626+1G>T rs34885858
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3703_3705CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) rs1555535472
NM_000135.4(FANCA):c.3755_3756AG[3] (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3755_3756AG[5] (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3829-9G>A rs776077648
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs) rs1555534060
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3934+74C>G rs56216970
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3953_3955TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4122_4123CA[1] (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4167+2C>T rs374765708
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs) rs1555532946
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+2T>A rs1555532943
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881
NM_000135.4(FANCA):c.513dup (p.Lys172fs) rs1555574913
NM_000135.4(FANCA):c.522+1G>T rs1365019056
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.597-1G>C rs147945881
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.79+1G>C rs1483028018
NM_000135.4(FANCA):c.793-3C>G rs749688050
NM_000135.4(FANCA):c.80-1G>T rs751076878
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487
NM_000135.4(FANCA):c.827-1G>C rs753728435
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.894-2A>G rs976556567
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000135.4(FANCA):c.989_995del (p.His330fs) rs1555564451
NM_000136.2(FANCC):c.1329+166_1329+168delGGT rs1554829374
NM_000136.2(FANCC):c.1329+181_1329+183delCCT rs587778328
NM_000136.2(FANCC):c.1329+246delC rs542091036
NM_000136.2(FANCC):c.1329+5delG rs878853670
NM_000136.2(FANCC):c.165+1delG rs1554858249
NM_000136.2(FANCC):c.345+1delG rs1057516247
NM_000136.2(FANCC):c.844-10_844-8delCCT rs758617953
NM_000136.3(FANCC):c.-79+1G>A rs1228886763
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.1073-4G>A rs147695697
NM_000136.3(FANCC):c.108_109dup (p.His37fs) rs1057517131
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1175_1176AG[3] (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227
NM_000136.3(FANCC):c.1329+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+238C>T rs768988593
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) rs1057516963
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1533+1G>C rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.1534-2A>G rs1554827166
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del) rs1554838595
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) rs1554832862
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000380.3(XPA):c.-43G>A rs886063217
NM_000380.3(XPA):c.-4_26del (p.Met1_Pro9del) rs1554703183
NM_000380.3(XPA):c.-66T>G rs886063218
NM_000380.3(XPA):c.-72_-47del26 rs1249073186
NM_000380.3(XPA):c.10del (p.Ala4fs) rs779161471
NM_000380.3(XPA):c.12_38del (p.Asp5_Ala13del) rs755109935
NM_000380.3(XPA):c.172+1G>A rs1554703119
NM_000380.3(XPA):c.172+1G>T rs1554703119
NM_000380.3(XPA):c.197del (p.Pro66fs) rs1554702629
NM_000380.3(XPA):c.235G>T (p.Glu79Ter) rs1554702608
NM_000380.3(XPA):c.237_242del (p.Glu83_Glu84del) rs1554702607
NM_000380.3(XPA):c.238_240GAA[3] (p.Glu83_Glu84del) rs3176652
NM_000380.3(XPA):c.283+1_283+6del6 rs1554702597
NM_000380.3(XPA):c.2T>C (p.Met1Thr) rs1253496792
NM_000380.3(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000380.3(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.3(XPA):c.331G>T (p.Glu111Ter) rs769255883
NM_000380.3(XPA):c.338_339del (p.Met113fs) rs748286715
NM_000380.3(XPA):c.344_346del (p.Ser115del) rs1554701942
NM_000380.3(XPA):c.344_348CTTAT[1] (p.Leu117fs) rs1200172747
NM_000380.3(XPA):c.378T>G (p.Cys126Trp) rs1451780491
NM_000380.3(XPA):c.389+1G>A rs1554701931
NM_000380.3(XPA):c.389G>A (p.Arg130Lys) rs1324310300
NM_000380.3(XPA):c.390-1G>C rs750218942
NM_000380.3(XPA):c.391del (p.Asp131fs) rs1554701563
NM_000380.3(XPA):c.397_399GAT[1] (p.Asp134del) rs1554701553
NM_000380.3(XPA):c.426_427AG[1] (p.Glu143fs) rs1554701540
NM_000380.3(XPA):c.439_441del (p.Glu147del) rs1554701535
NM_000380.3(XPA):c.451A>T (p.Lys151Ter) rs1554701532
NM_000380.3(XPA):c.457_458TG[1] (p.Cys153_Asp154delinsTer) rs1240801740
NM_000380.3(XPA):c.472_473AG[2] (p.Glu159fs) rs781195170
NM_000380.3(XPA):c.472dup (p.Arg158fs) rs1554701520
NM_000380.3(XPA):c.532dup (p.Met178fs) rs1326841833
NM_000380.3(XPA):c.548del (p.Lys183fs) rs1554701488
NM_000380.3(XPA):c.555+1G>A rs1554701481
NM_000380.3(XPA):c.555+2T>A rs1554701478
NM_000380.3(XPA):c.555G>C (p.Gln185His) rs746617574
NM_000380.3(XPA):c.563del (p.Lys188fs) rs1554701152
NM_000380.3(XPA):c.571C>G (p.Leu191Val) rs562768588
NM_000380.3(XPA):c.572_573del (p.Leu191fs) rs1554701144
NM_000380.3(XPA):c.598_609dup (p.Leu200_Ala203dup) rs1554701135
NM_000380.3(XPA):c.599T>G (p.Leu200Ter) rs755803064
NM_000380.3(XPA):c.601_602del (p.Glu201fs) rs1554701139
NM_000380.3(XPA):c.619C>T (p.Arg207Ter) rs104894133
NM_000380.3(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.3(XPA):c.631dup (p.Arg211fs) rs1554701129
NM_000380.3(XPA):c.642_645dup (p.Gln216fs) rs764582394
NM_000380.3(XPA):c.646C>T (p.Gln216Ter) rs761978351
NM_000380.3(XPA):c.666dup (p.Val223fs) rs1554701103
NM_000380.3(XPA):c.673+2T>C rs1019535182
NM_000380.3(XPA):c.677T>A (p.Leu226Ter) rs1554699334
NM_000380.3(XPA):c.682C>T (p.Arg228Ter) rs104894132
NM_000380.3(XPA):c.683G>A (p.Arg228Gln) rs1805160
NM_000380.3(XPA):c.690_692AAG[1] (p.Arg231del) rs1554699326
NM_000380.3(XPA):c.731A>G (p.His244Arg) rs144725456
NM_000380.3(XPA):c.732dup (p.Glu245Ter) rs1554699296
NM_000380.3(XPA):c.756_758AGA[1] (p.Glu253del) rs758358436
NM_000380.3(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000380.3(XPA):c.774dup (p.Lys259Ter) rs752573039
NM_000380.3(XPA):c.807_808AT[1] (p.Thr269_Tyr270insTer) rs1554699256
NM_000380.3(XPA):c.817dup (p.Met273fs) rs754458042
NM_001351834.2(ATM):c.5763-1050A>G rs774925473
NM_002485.4(NBN):c.*364_*393del30 rs1554553737
NM_002485.4(NBN):c.1005_1007AAC[1] (p.Thr337del) rs770500095
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.104T>C (p.Ile35Thr) rs587780773
NM_002485.4(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.4(NBN):c.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.4(NBN):c.1124+1G>A rs1057517209
NM_002485.4(NBN):c.1124+37C>G rs577575764
NM_002485.4(NBN):c.1124+5A>T rs587782108
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002485.4(NBN):c.1125-1G>A rs1057517102
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.11del (p.Leu4fs) rs1064793210
NM_002485.4(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002485.4(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.4(NBN):c.1398-10T>A rs539960851
NM_002485.4(NBN):c.1430C>T (p.Ser477Leu) rs767123014
NM_002485.4(NBN):c.1465C>G (p.Leu489Val) rs143948240
NM_002485.4(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.4(NBN):c.1587dup (p.Ser530fs) rs1057516332
NM_002485.4(NBN):c.163_171+3del rs1057516772
NM_002485.4(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys) rs72550742
NM_002485.4(NBN):c.171+1G>A rs931715719
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.172-529G>A rs104895039
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.4(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.4(NBN):c.1749_1751GGA[1] (p.Glu585del) rs1554558265
NM_002485.4(NBN):c.178dup (p.Thr60fs) rs1057516392
NM_002485.4(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.4(NBN):c.1846-1G>A rs61753717
NM_002485.4(NBN):c.1846-5_1846-2dup rs1554556962
NM_002485.4(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.4(NBN):c.1873G>A (p.Glu625Lys) rs369049359
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.190C>T (p.Pro64Ser) rs267602038
NM_002485.4(NBN):c.1912T>C (p.Ser638Pro) rs199657566
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.4(NBN):c.1998_1999CT[1] (p.Ser667fs) rs1057516852
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2029_2031GAT[1] (p.Asp678del) rs1554556498
NM_002485.4(NBN):c.2038G>A (p.Gly680Ser) rs200564603
NM_002485.4(NBN):c.2049_2050delinsT (p.Lys683fs) rs1057516869
NM_002485.4(NBN):c.2070+1G>A rs1554556454
NM_002485.4(NBN):c.2070+2delT rs1057517075
NM_002485.4(NBN):c.2071-1G>C rs786201965
NM_002485.4(NBN):c.2071-4A>G rs746994234
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.214_215ins18 (p.?) rs1554568352
NM_002485.4(NBN):c.216_217insTT (p.Lys73fs) rs1554568348
NM_002485.4(NBN):c.2184+1G>T rs756363734
NM_002485.4(NBN):c.2184+8G>C rs730881842
NM_002485.4(NBN):c.2185-1G>A rs1057517262
NM_002485.4(NBN):c.2205_2207AGA[1] (p.Glu737del) rs1554554251
NM_002485.4(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.4(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.4(NBN):c.2219C>T (p.Ala740Val) rs1554554240
NM_002485.4(NBN):c.2227_2228del (p.Leu743fs) rs876659551
NM_002485.4(NBN):c.2235-12C>T rs1554553904
NM_002485.4(NBN):c.2235-2A>G rs767094704
NM_002485.4(NBN):c.2238C>G (p.Tyr746Ter) rs751570713
NM_002485.4(NBN):c.224G>C (p.Gly75Ala) rs587782179
NM_002485.4(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.4(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.4(NBN):c.265C>T (p.Arg89Ter) rs1057516320
NM_002485.4(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.266G>C (p.Arg89Pro) rs747315554
NM_002485.4(NBN):c.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.4(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.4(NBN):c.321-3C>T rs751356470
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.350_352CTT[1] (p.Ser118del) rs730881841
NM_002485.4(NBN):c.37+10G>C rs369408590
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.4(NBN):c.37+6G>A rs540868733
NM_002485.4(NBN):c.37+6G>C rs540868733
NM_002485.4(NBN):c.37+6G>T rs540868733
NM_002485.4(NBN):c.37+7G>A rs372850559
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.38-3C>G rs876661099
NM_002485.4(NBN):c.38-7A>G rs863224392
NM_002485.4(NBN):c.380_383delinsAC (p.Ala127fs) rs1554567960
NM_002485.4(NBN):c.415A>G (p.Thr139Ala) rs543852763
NM_002485.4(NBN):c.432del (p.Glu145fs) rs1554567902
NM_002485.4(NBN):c.480+10A>G rs878854512
NM_002485.4(NBN):c.483A>G (p.Thr161=) rs758276775
NM_002485.4(NBN):c.531del (p.Phe177fs) rs1057516787
NM_002485.4(NBN):c.585-1G>A rs1394578008
NM_002485.4(NBN):c.590dup (p.Tyr197Ter) rs1554564309
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.633T>A (p.Asp211Glu) rs377700348
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.644G>A (p.Arg215Gln) rs61753718
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.664T>C (p.Phe222Leu) rs541992192
NM_002485.4(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.4(NBN):c.702+1G>A rs1057517104
NM_002485.4(NBN):c.702+7A>G rs864622602
NM_002485.4(NBN):c.703-18G>A rs769418
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002485.4(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.4(NBN):c.995-2A>C rs876659521
NM_002485.4(NBN):c.995-2A>G rs876659521
NM_004628.4(XPC):c.*156G>A rs121965092
NM_004628.4(XPC):c.*96C>G rs2229090
NM_004628.4(XPC):c.101_103dup (p.Glu34_Asp35insGlu) rs750450365
NM_004628.4(XPC):c.103+1G>A rs1423398589
NM_004628.4(XPC):c.103+2T>G rs1553608616
NM_004628.4(XPC):c.1103_1104del (p.Gln368fs) rs1450238352
NM_004628.4(XPC):c.1143dup (p.Lys382fs) rs1553605871
NM_004628.4(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_004628.4(XPC):c.1229A>G (p.Glu410Gly) rs587778762
NM_004628.4(XPC):c.1243C>T (p.Arg415Ter) rs757958943
NM_004628.4(XPC):c.1289_1293del (p.Ser429_Tyr430insTer) rs1553605813
NM_004628.4(XPC):c.128del (p.Pro43fs) rs1260189637
NM_004628.4(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.4(XPC):c.1293_1294insT (p.Glu432Ter) rs1553605805
NM_004628.4(XPC):c.1326_1327CT[1] (p.Gly442_Ser443insTer) rs1553605795
NM_004628.4(XPC):c.1381G>T (p.Glu461Ter) rs754197041
NM_004628.4(XPC):c.1421dup (p.Arg475fs) rs1553605761
NM_004628.4(XPC):c.1464_1466del (p.Gly489del) rs1553605750
NM_004628.4(XPC):c.1465_1476del (p.Gly489_Arg492del) rs1553605733
NM_004628.4(XPC):c.147del (p.Val51fs) rs1553607773
NM_004628.4(XPC):c.1539G>A (p.Met513Ile) rs3731130
NM_004628.4(XPC):c.1564A>T (p.Lys522Ter) rs746250060
NM_004628.4(XPC):c.1673_1675dup (p.Cys558dup) rs1553605670
NM_004628.4(XPC):c.1677C>A (p.Tyr559Ter) rs767569346
NM_004628.4(XPC):c.1686del (p.Thr563fs) rs1553605655
NM_004628.4(XPC):c.1735C>T (p.Arg579Ter) rs121965088
NM_004628.4(XPC):c.1748_1749AG[1] (p.Arg584fs) rs752030576
NM_004628.4(XPC):c.1873-10G>T rs886058049
NM_004628.4(XPC):c.1934del (p.Pro645fs) rs1553605497
NM_004628.4(XPC):c.1A>G (p.Met1Val) rs763678756
NM_004628.4(XPC):c.1A>T (p.Met1Leu) rs763678756
NM_004628.4(XPC):c.2011C>T (p.Arg671Cys) rs771891932
NM_004628.4(XPC):c.2033+1G>A rs764480429
NM_004628.4(XPC):c.2033+4C>T rs753195190
NM_004628.4(XPC):c.2033+5G>A rs374329989
NM_004628.4(XPC):c.2074A>T (p.Lys692Ter) rs374117852
NM_004628.4(XPC):c.2086_2088GTG[3] (p.Val697dup) rs1423935768
NM_004628.4(XPC):c.2101G>T (p.Glu701Ter) rs1553605023
NM_004628.4(XPC):c.2116-1G>A rs1553604620
NM_004628.4(XPC):c.2138G>A (p.Arg713His) rs778769039
NM_004628.4(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.4(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004628.4(XPC):c.2215_2217GAG[1] (p.Glu740del) rs776958968
NM_004628.4(XPC):c.2218G>T (p.Glu740Ter) rs770308917
NM_004628.4(XPC):c.2251-1G>C rs754673606
NM_004628.4(XPC):c.2251-2A>G rs1553604570
NM_004628.4(XPC):c.2287del (p.Leu763fs) rs1553604559
NM_004628.4(XPC):c.2317C>T (p.Gln773Ter) rs1281090187
NM_004628.4(XPC):c.2331dup (p.Asn778fs) rs1553604552
NM_004628.4(XPC):c.2336dup (p.His780fs) rs1553604549
NM_004628.4(XPC):c.2537G>C (p.Gly846Ala) rs55779831
NM_004628.4(XPC):c.2605-2A>T rs1553604251
NM_004628.4(XPC):c.2621C>T (p.Pro874Leu) rs375859472
NM_004628.4(XPC):c.2633C>G (p.Ala878Gly) rs183167499
NM_004628.4(XPC):c.2633del (p.Ala878fs) rs1553604236
NM_004628.4(XPC):c.2703del (p.Ala902fs) rs1280251289
NM_004628.4(XPC):c.2722C>T (p.Arg908Ter) rs199527751
NM_004628.4(XPC):c.2724_2726AGA[1] (p.Glu909del) rs751026244
NM_004628.4(XPC):c.2765_2773del (p.Lys922_Lys924del) rs1553604206
NM_004628.4(XPC):c.2782A>T (p.Lys928Ter) rs3731177
NM_004628.4(XPC):c.299+1G>A rs1553607744
NM_004628.4(XPC):c.338_339AG[2] (p.Ala116fs) rs1228981894
NM_004628.4(XPC):c.351_352insGTA (p.Met118_Asn119insVal) rs1358623305
NM_004628.4(XPC):c.368del (p.Asn123fs) rs1553607419
NM_004628.4(XPC):c.409dup (p.Glu137fs) rs1208223013
NM_004628.4(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.4(XPC):c.441_442GA[2] (p.Glu149fs) rs1402162002
NM_004628.4(XPC):c.478G>T (p.Val160Leu) rs587778763
NM_004628.4(XPC):c.515dup (p.Ala173fs) rs1553607144
NM_004628.4(XPC):c.52A>C (p.Ser18Arg) rs587778757
NM_004628.4(XPC):c.537-1G>C rs1326646197
NM_004628.4(XPC):c.55C>T (p.Gln19Ter) rs1553608637
NM_004628.4(XPC):c.564_565AT[1] (p.Tyr189fs) rs752088918
NM_004628.4(XPC):c.597A>C (p.Lys199Asn) rs587778759
NM_004628.4(XPC):c.612_613CA[3] (p.His206fs) rs1553606979
NM_004628.4(XPC):c.621+2dup rs1553606975
NM_004628.4(XPC):c.622-2A>C rs201940931
NM_004628.4(XPC):c.622-2A>G rs201940931
NM_004628.4(XPC):c.658C>T (p.Arg220Ter) rs745679643
NM_004628.4(XPC):c.718C>T (p.Arg240Cys) rs552222088
NM_004628.4(XPC):c.736C>T (p.Pro246Ser) rs587778761
NM_004628.4(XPC):c.739C>T (p.Arg247Ter) rs764321665
NM_004628.4(XPC):c.755A>G (p.Tyr252Cys) rs587778760
NM_004628.4(XPC):c.779+1G>A rs975121308
NM_004628.4(XPC):c.779+1G>T rs975121308
NM_004628.4(XPC):c.877C>T (p.Arg293Ter) rs373519125
NM_004628.4(XPC):c.915dup (p.Leu306fs) rs1553605973
NM_004628.4(XPC):c.958C>T (p.Gln320Ter) rs867461743
NM_004628.4(XPC):c.991-2A>G rs1553605894
NM_005591.3(MRE11):c.1002C>G (p.Ser334Arg) rs115244417
NM_005591.3(MRE11):c.1032T>G (p.Leu344=) rs11020793
NM_005591.3(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.3(MRE11):c.1098+17T>C rs1805365
NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) rs116679717
NM_005591.3(MRE11):c.1225+19T>C rs641936
NM_005591.3(MRE11):c.1226-5T>C rs1555009952
NM_005591.3(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.3(MRE11):c.1480G>A (p.Glu494Lys) rs104895016
NM_005591.3(MRE11):c.1491C>T (p.Ile497=) rs199634245
NM_005591.3(MRE11):c.1574G>A (p.Arg525Lys) rs773275841
NM_005591.3(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.3(MRE11):c.1927-1G>T rs1295485913
NM_005591.3(MRE11):c.1994+10G>A rs1805366
NM_005591.3(MRE11):c.2042C>T (p.Ser681Leu) rs587782166
NM_005591.3(MRE11):c.2070+14A>C rs369127675
NM_005591.3(MRE11):c.2071-53G>T rs13447742
NM_005591.3(MRE11):c.2092A>G (p.Met698Val) rs1805362
NM_005591.3(MRE11):c.314+6T>C rs864622413
NM_005591.3(MRE11):c.315-14dup rs35062043
NM_005591.3(MRE11):c.315-4delT rs35062043
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.529G>A (p.Ala177Thr) rs142996063
NM_005591.3(MRE11):c.659+1G>A rs759130031
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.3(MRE11):c.845+11T>C rs140145979
NM_005591.3(MRE11):c.969A>G (p.Pro323=) rs13447633
NM_005732.3(RAD50):c.3164+14delA rs148895884
NM_005732.3(RAD50):c.3164+22_3164+25dupCAGT rs536987915
NM_005732.3(RAD50):c.756+7delT rs377720482
NM_005732.4(RAD50):c.1052-16del rs757412385
NM_005732.4(RAD50):c.1052-38C>T rs104895045
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020
NM_005732.4(RAD50):c.1246-11T>C rs746985455
NM_005732.4(RAD50):c.1246-8G>T rs776650264
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706
NM_005732.4(RAD50):c.183del (p.Gly63fs) rs1554096791
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588
NM_005732.4(RAD50):c.214-44G>A rs74769721
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630
NM_005732.4(RAD50):c.2431_2433CAA[1] (p.Gln812del) rs1554099147
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) rs587782895
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640
NM_005732.4(RAD50):c.2923-7T>C rs1329253830
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_005732.4(RAD50):c.3037-3T>C rs115737081
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931
NM_005732.4(RAD50):c.3165-4A>T rs104895050
NM_005732.4(RAD50):c.3165-8T>G rs369581851
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs) rs878854799
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe) rs199579239
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_005732.4(RAD50):c.551+85A>G rs75639632
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707
NM_005732.4(RAD50):c.885+11G>A rs117081789
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091
NM_032043.2(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.2(BRIP1):c.1106A>G (p.Tyr369Cys) rs786202218
NM_032043.2(BRIP1):c.1109A>G (p.Asn370Ser) rs777511615
NM_032043.2(BRIP1):c.1124_1125CA[1] (p.Gln376fs) rs587780224
NM_032043.2(BRIP1):c.1140+11G>A rs369153270
NM_032043.2(BRIP1):c.1141-94G>T rs114901675
NM_032043.2(BRIP1):c.1171A>G (p.Ile391Val) rs863224798
NM_032043.2(BRIP1):c.1195G>A (p.Glu399Lys) rs587782816
NM_032043.2(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226
NM_032043.2(BRIP1):c.1321G>A (p.Val441Met) rs1060501782
NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.2(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032043.2(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099
NM_032043.2(BRIP1):c.1444A>G (p.Ile482Val) rs142744352
NM_032043.2(BRIP1):c.1455T>C (p.Ala485=) rs773489367
NM_032043.2(BRIP1):c.1473+6A>G rs587780827
NM_032043.2(BRIP1):c.1474-13_1475del15 rs1555603635
NM_032043.2(BRIP1):c.1474-1G>A rs1555603638
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
NM_032043.2(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1568C>T (p.Thr523Ile) rs1060501764
NM_032043.2(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu) rs1064795196
NM_032043.2(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299
NM_032043.2(BRIP1):c.1591T>G (p.Phe531Val) rs4988350
NM_032043.2(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.2(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1629-500G>A rs1057517645
NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731
NM_032043.2(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789
NM_032043.2(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666
NM_032043.2(BRIP1):c.1684A>G (p.Ile562Val) rs45533636
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.2(BRIP1):c.1702_1704del (p.Asn568del) rs1555602554
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.2(BRIP1):c.1759C>G (p.His587Asp) rs876660519
NM_032043.2(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.2(BRIP1):c.1795-9T>G rs777006706
NM_032043.2(BRIP1):c.1831G>A (p.Val611Ile) rs777741543
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321
NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.1899C>G (p.Ile633Met) rs28997572
NM_032043.2(BRIP1):c.1935+11G>A rs79121306
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170
NM_032043.2(BRIP1):c.1A>G (p.Met1Val) rs764585550
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.205+1delG rs1057517648
NM_032043.2(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533
NM_032043.2(BRIP1):c.206-21T>C rs2048717
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356
NM_032043.2(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2097+8A>C rs730881642
NM_032043.2(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.2(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.2(BRIP1):c.2257+19A>C rs77851913
NM_032043.2(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572
NM_032043.2(BRIP1):c.2273dup (p.Ala759fs) rs587780236
NM_032043.2(BRIP1):c.2285G>A (p.Arg762His) rs200960251
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955
NM_032043.2(BRIP1):c.2341dup (p.Thr781fs) rs1555590388
NM_032043.2(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574
NM_032043.2(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2393G>A (p.Arg798Gln) rs375082407
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2441G>A (p.Arg814His) rs45468199
NM_032043.2(BRIP1):c.2450A>G (p.Tyr817Cys) rs1555580828
NM_032043.2(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239
NM_032043.2(BRIP1):c.2492+5G>A rs763222019
NM_032043.2(BRIP1):c.2543G>A (p.Arg848His) rs374334794
NM_032043.2(BRIP1):c.254C>T (p.Ser85Leu) rs587781830
NM_032043.2(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731
NM_032043.2(BRIP1):c.2564G>A (p.Arg855His) rs200894063
NM_032043.2(BRIP1):c.2567A>G (p.Tyr856Cys) rs781556845
NM_032043.2(BRIP1):c.2576-17T>G rs1057517647
NM_032043.2(BRIP1):c.2579T>C (p.Leu860Pro) rs587780242
NM_032043.2(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.2(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2662C>T (p.His888Tyr) rs757668121
NM_032043.2(BRIP1):c.2706A>G (p.Ile902Met) rs587780244
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2800T>G (p.Phe934Val) rs863224801
NM_032043.2(BRIP1):c.2804T>G (p.Val935Gly) rs4988356
NM_032043.2(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.2(BRIP1):c.2830C>T (p.Gln944Ter) rs140233356
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.2(BRIP1):c.286_289ACAA[1] (p.Asn97fs) rs763009188
NM_032043.2(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632
NM_032043.2(BRIP1):c.2905+1G>A rs876660203
NM_032043.2(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644
NM_032043.2(BRIP1):c.2982_2985CAAA[2] (p.Thr997fs) rs771028677
NM_032043.2(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.2(BRIP1):c.299T>C (p.Met100Thr) rs587782427
NM_032043.2(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706
NM_032043.2(BRIP1):c.3051G>A (p.Pro1017=) rs776990704
NM_032043.2(BRIP1):c.3070G>A (p.Gly1024Arg) rs147119272
NM_032043.2(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094
NM_032043.2(BRIP1):c.3104G>A (p.Arg1035His) rs367816363
NM_032043.2(BRIP1):c.312T>G (p.Thr104=) rs769190318
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.317G>A (p.Arg106His) rs143615668
NM_032043.2(BRIP1):c.3196del (p.Ser1066fs) rs730881645
NM_032043.2(BRIP1):c.3224C>T (p.Ser1075Leu) rs183928474
NM_032043.2(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402
NM_032043.2(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666
NM_032043.2(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.2(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830
NM_032043.2(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248
NM_032043.2(BRIP1):c.3336T>C (p.Asp1112=) rs369843642
NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459
NM_032043.2(BRIP1):c.3386_3389CTAT[1] (p.Tyr1131fs) rs778664039
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.3431A>G (p.Glu1144Gly) rs774605759
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843
NM_032043.2(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893
NM_032043.2(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340
NM_032043.2(BRIP1):c.3651G>A (p.Trp1217Ter) rs542698396
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.2(BRIP1):c.380-24dup rs545021924
NM_032043.2(BRIP1):c.394A>T (p.Thr132Ser) rs730881623
NM_032043.2(BRIP1):c.40A>T (p.Lys14Ter) rs1555618727
NM_032043.2(BRIP1):c.413T>C (p.Leu138Ser) rs587780251
NM_032043.2(BRIP1):c.415T>G (p.Ser139Ala) rs202072866
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.472_476AAGAA[1] (p.Lys159fs) rs1555616143
NM_032043.2(BRIP1):c.485G>T (p.Arg162Leu) rs61757643
NM_032043.2(BRIP1):c.508-1G>C rs864622277
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.595C>T (p.Leu199=) rs144969738
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.617C>T (p.Ser206Leu) rs565458815
NM_032043.2(BRIP1):c.628C>T (p.Pro210Ser) rs150313156
NM_032043.2(BRIP1):c.655T>C (p.Cys219Arg) rs730881630
NM_032043.2(BRIP1):c.679C>G (p.Gln227Glu) rs45459799
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_032043.2(BRIP1):c.751C>T (p.Arg251Cys) rs752309409
NM_032043.2(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776
NM_032043.2(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569
NM_032043.2(BRIP1):c.797C>T (p.Thr266Met) rs550031006
NM_032043.2(BRIP1):c.823A>G (p.Ile275Val) rs587781425
NM_032043.2(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.2(BRIP1):c.852C>T (p.Val284=) rs144940449
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032043.2(BRIP1):c.932_935del (p.Tyr311fs) rs1555607792
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln) rs373170458
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val) rs759149207
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602
NM_058216.3(RAD51C):c.145+12T>G rs377297129
NM_058216.3(RAD51C):c.145+2T>G rs1057517641
NM_058216.3(RAD51C):c.146-15T>C rs1036386535
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939
NM_058216.3(RAD51C):c.234A>G (p.Thr78=) rs730881929
NM_058216.3(RAD51C):c.271C>T (p.Leu91Phe) rs1555593653
NM_058216.3(RAD51C):c.317C>T (p.Ala106Val) rs1060502594
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.3(RAD51C):c.379C>A (p.Pro127Thr) rs587782222
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.405-1G>C rs587782036
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307
NM_058216.3(RAD51C):c.459T>G (p.Gly153=) rs769486350
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101
NM_058216.3(RAD51C):c.497T>C (p.Val166Ala) rs765300465
NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly) rs758029117
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256
NM_058216.3(RAD51C):c.520A>G (p.Thr174Ala) rs864622278
NM_058216.3(RAD51C):c.537C>A (p.His179Gln) rs372385738
NM_058216.3(RAD51C):c.571+16A>G rs141621051
NM_058216.3(RAD51C):c.571+4A>G rs587780257
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406
NM_058216.3(RAD51C):c.706-13C>G rs747406535
NM_058216.3(RAD51C):c.706-18T>C rs56401264
NM_058216.3(RAD51C):c.706-2A>G rs587780259
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr) rs539341386
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys) rs587782474
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met) rs746026526
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+14A>G rs1057517644
NM_058216.3(RAD51C):c.837+1G>T rs760235677
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala) rs587781574
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995
NM_058216.3(RAD51C):c.905-7C>T rs757624360
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter) rs1554076325
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726

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