ClinVar Miner

List of variants reported as uncertain significance for DNA repair disease by Counsyl

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 578
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HGVS dbSNP
NM_000051.3(ATM):c.-111_-109delinsAC rs1555051087
NM_000051.3(ATM):c.-31+595G>A rs1555051574
NM_000051.3(ATM):c.1021G>A (p.Val341Ile) rs200601781
NM_000051.3(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.3(ATM):c.115A>G (p.Thr39Ala) rs779297339
NM_000051.3(ATM):c.1259_1264del (p.Ile420_Ser421del) rs1555070659
NM_000051.3(ATM):c.131A>G (p.Asp44Gly) rs150143957
NM_000051.3(ATM):c.1351C>T (p.Arg451Cys) rs201719927
NM_000051.3(ATM):c.1440A>C (p.Leu480Phe) rs370240037
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.1481G>A (p.Gly494Asp) rs786202233
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.1880T>G (p.Phe627Cys) rs546087885
NM_000051.3(ATM):c.1905_1910del (p.His635_His636del) rs587781635
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.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.2207C>T (p.Ala736Val) rs587780617
NM_000051.3(ATM):c.2276G>A (p.Ser759Asn) rs786202270
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.2428A>G (p.Lys810Glu) rs201909756
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.3(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
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.2804C>G (p.Thr935Arg) rs3218708
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
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.2945G>A (p.Arg982His) rs749471737
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
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.3253G>A (p.Val1085Ile) rs1555086177
NM_000051.3(ATM):c.3328G>A (p.Ala1110Thr) rs147112946
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3402+3A>G rs786203688
NM_000051.3(ATM):c.3407A>G (p.His1136Arg) rs768490475
NM_000051.3(ATM):c.3577-7C>T rs558667657
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.3747-10C>G rs775274473
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.3806A>G (p.Lys1269Arg) rs146017595
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.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.3964C>A (p.Leu1322Ile) rs144535256
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.4358T>G (p.Ile1453Arg) rs587782126
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4445G>A (p.Cys1482Tyr) rs201277352
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.4658A>C (p.Glu1553Ala) rs587778075
NM_000051.3(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.3(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4768C>T (p.Leu1590Phe) rs35962982
NM_000051.3(ATM):c.4777-13T>A rs371535082
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.496+4T>C rs587781375
NM_000051.3(ATM):c.5039C>T (p.Pro1680Leu) rs587782153
NM_000051.3(ATM):c.5080G>A (p.Ala1694Thr) rs756197350
NM_000051.3(ATM):c.5177+5G>A rs759373136
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.5319+6_5319+7del rs777478613
NM_000051.3(ATM):c.5320-10T>C rs864622731
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.5435C>T (p.Ala1812Val) rs199885813
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.5728C>A (p.Leu1910Ile) rs143577586
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.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.3(ATM):c.6198+5A>G rs771047560
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.6332A>G (p.His2111Arg) rs876658300
NM_000051.3(ATM):c.6452+5T>A rs533830556
NM_000051.3(ATM):c.6452+6A>G rs878853531
NM_000051.3(ATM):c.649A>G (p.Ile217Val) rs547045780
NM_000051.3(ATM):c.6572+4T>C rs587780636
NM_000051.3(ATM):c.659C>T (p.Ala220Val) rs145355104
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.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
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+9del rs1555120086
NM_000051.3(ATM):c.7004C>T (p.Thr2335Ile) rs3092831
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.7291A>G (p.Lys2431Glu) rs864622563
NM_000051.3(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.3(ATM):c.7381C>T (p.Arg2461Cys) rs201314561
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
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.7778A>G (p.Gln2593Arg) rs587779867
NM_000051.3(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.3(ATM):c.7789G>T (p.Asp2597Tyr) rs1555125212
NM_000051.3(ATM):c.7984G>A (p.Val2662Ile) rs1315805984
NM_000051.3(ATM):c.8011-6T>G rs762092284
NM_000051.3(ATM):c.8071C>T (p.Arg2691Cys) rs531980488
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.8155C>T (p.Arg2719Cys) rs138526014
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.8268+6T>A rs747153940
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.8428A>C (p.Lys2810Gln) rs730881325
NM_000051.3(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678
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+6C>G rs863224300
NM_000051.3(ATM):c.8596C>G (p.Leu2866Val) rs368666328
NM_000051.3(ATM):c.8672G>T (p.Gly2891Val) rs748192003
NM_000051.3(ATM):c.8741T>C (p.Ile2914Thr) rs780303327
NM_000051.3(ATM):c.8810T>C (p.Val2937Ala) rs587782149
NM_000051.3(ATM):c.8850+4A>C rs587782335
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8987+3_8987+35del rs774188684
NM_000051.3(ATM):c.9008A>G (p.Asn3003Ser) rs144636562
NM_000051.3(ATM):c.901+6A>C rs1555067357
NM_000051.3(ATM):c.902G>A (p.Gly301Asp) rs202208861
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
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_000057.4(BLM):c.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.4(BLM):c.129_130insTAT (p.Asp44_Asn45insTyr) rs778786003
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
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.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.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.264_266CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
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.3242T>A (p.Val1081Glu) rs762716289
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) rs1555425105
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.4252T>A (p.Ter1418Lys) rs1555425441
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.678_680dup (p.Asp227dup) rs1555418424
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.98+3_98+6del rs1555418015
NM_000082.3(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) rs750622098
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.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.562_564del (p.Glu188del) rs1404307838
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000124.3(ERCC6):c.2073_2074ins15 (p.?) rs1554788383
NM_000124.4(ERCC6):c.-14-2A>G rs760663515
NM_000124.4(ERCC6):c.1134_1136GGA[6] (p.Glu382_Glu384dup) rs1554793268
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.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
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.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103
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.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3111_3113AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3435_3437dup (p.Ser1146_Ile1147insArg) rs1435512927
NM_000124.4(ERCC6):c.3573_3575AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
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.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
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.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
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.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.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871
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.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824
NM_000135.4(FANCA):c.3349-3C>T rs373861415
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.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3703_3705CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
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.3829-9G>A rs776077648
NM_000135.4(FANCA):c.3953_3955TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657
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.4167+2C>T rs374765708
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.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.553C>A (p.Leu185Ile) rs587778323
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.793-3C>G rs749688050
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.1073-4G>A rs147695697
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1329+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+166_1329+168del rs1554829374
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
NM_000136.3(FANCC):c.1329+5del rs878853670
NM_000136.3(FANCC):c.1330-8T>C rs864622221
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.457-7T>C rs749994612
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.843+5G>A rs369082921
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) rs1554832862
NM_000380.3(XPA):c.-43G>A rs886063217
NM_000380.3(XPA):c.-66T>G rs886063218
NM_000380.3(XPA):c.-72_-47del rs1249073186
NM_000380.3(XPA):c.12_38del (p.Asp5_Ala13del) rs755109935
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.323G>A (p.Cys108Tyr) rs104894131
NM_000380.3(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.3(XPA):c.344_346del (p.Ser115del) rs1554701942
NM_000380.3(XPA):c.378T>G (p.Cys126Trp) rs1451780491
NM_000380.3(XPA):c.389G>A (p.Arg130Lys) rs1324310300
NM_000380.3(XPA):c.397_399GAT[1] (p.Asp134del) rs1554701553
NM_000380.3(XPA):c.439_441del (p.Glu147del) rs1554701535
NM_000380.3(XPA):c.571C>G (p.Leu191Val) rs562768588
NM_000380.3(XPA):c.598_609dup (p.Leu200_Ala203dup) rs1554701135
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.756_758AGA[1] (p.Glu253del) rs758358436
NM_000380.3(XPA):c.807_808AT[1] (p.Thr269_Tyr270insTer) rs1554699256
NM_000380.3(XPA):c.817dup (p.Met273fs) rs754458042
NM_002485.4(NBN):c.*364_*393del rs1554553737
NM_002485.4(NBN):c.1005_1007AAC[1] (p.Thr337del) rs770500095
NM_002485.4(NBN):c.104T>C (p.Ile35Thr) rs587780773
NM_002485.4(NBN):c.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.4(NBN):c.1124+5A>T rs587782108
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
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.171+4T>C rs587782290
NM_002485.4(NBN):c.1749_1751GGA[1] (p.Glu585del) rs1554558265
NM_002485.4(NBN):c.1846-5_1846-2dup rs1554556962
NM_002485.4(NBN):c.1873G>A (p.Glu625Lys) rs369049359
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.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.2071-4A>G rs746994234
NM_002485.4(NBN):c.214_215ins18 (p.?) rs1554568352
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.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.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.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+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.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.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.664T>C (p.Phe222Leu) rs541992192
NM_002485.4(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_004628.4(XPC):c.*156G>A rs121965092
NM_004628.4(XPC):c.1229A>G (p.Glu410Gly) rs587778762
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.1539G>A (p.Met513Ile) rs3731130
NM_004628.4(XPC):c.1673_1675dup (p.Cys558dup) rs1553605670
NM_004628.4(XPC):c.1873-10G>T rs886058049
NM_004628.4(XPC):c.2011C>T (p.Arg671Cys) rs771891932
NM_004628.4(XPC):c.2033+4C>T rs753195190
NM_004628.4(XPC):c.2033+5G>A rs374329989
NM_004628.4(XPC):c.2086_2088GTG[3] (p.Val697dup) rs1423935768
NM_004628.4(XPC):c.2138G>A (p.Arg713His) rs778769039
NM_004628.4(XPC):c.2215_2217GAG[1] (p.Glu740del) rs776958968
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.351_352insGTA (p.Met118_Asn119insVal) rs1358623305
NM_004628.4(XPC):c.478G>T (p.Val160Leu) rs587778763
NM_004628.4(XPC):c.52A>C (p.Ser18Arg) rs587778757
NM_004628.4(XPC):c.597A>C (p.Lys199Asn) rs587778759
NM_004628.4(XPC):c.621+2dup rs1553606975
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.755A>G (p.Tyr252Cys) rs587778760
NM_004628.4(XPC):c.90_92GGA[6] (p.Glu34dup) rs750450365
NM_005591.3(MRE11):c.1480G>A (p.Glu494Lys) rs104895016
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.2042C>T (p.Ser681Leu) rs587782166
NM_005591.3(MRE11):c.314+6T>C rs864622413
NM_005591.3(MRE11):c.529G>A (p.Ala177Thr) rs142996063
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706
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.260G>A (p.Arg87His) rs374561375
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251
NM_005732.4(RAD50):c.3036+5G>A rs181016343
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.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.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.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.2(BRIP1):c.1321G>A (p.Val441Met) rs1060501782
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
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.1473+6A>G rs587780827
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
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.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_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.1831G>A (p.Val611Ile) rs777741543
NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.2(BRIP1):c.1899C>G (p.Ile633Met) rs28997572
NM_032043.2(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
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.2071A>C (p.Ile691Leu) rs587782356
NM_032043.2(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235
NM_032043.2(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572
NM_032043.2(BRIP1):c.2285G>A (p.Arg762His) rs200960251
NM_032043.2(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955
NM_032043.2(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.2(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622
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.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.2662C>T (p.His888Tyr) rs757668121
NM_032043.2(BRIP1):c.2706A>G (p.Ile902Met) rs587780244
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.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632
NM_032043.2(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.2(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417
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.3070G>A (p.Gly1024Arg) rs147119272
NM_032043.2(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379
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.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.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.3275C>T (p.Pro1092Leu) rs587780830
NM_032043.2(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248
NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459
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.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.370A>G (p.Thr124Ala) rs45617634
NM_032043.2(BRIP1):c.394A>T (p.Thr132Ser) rs730881623
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.485G>T (p.Arg162Leu) rs61757643
NM_032043.2(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375
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.751C>T (p.Arg251Cys) rs752309409
NM_032043.2(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776
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.854A>G (p.His285Arg) rs141055990
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.146-8A>G rs201079501
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760
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.379C>A (p.Pro127Thr) rs587782222
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.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+4A>G rs587780257
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.719T>C (p.Ile240Thr) rs539341386
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925
NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys) rs587782474
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.862A>G (p.Thr288Ala) rs587781574
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307
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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