ClinVar Miner

List of variants studied for DNA repair disease by Genome-Nilou Lab

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1125
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.1881T>A (p.Ala627=) rs2958057 1.00000
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_001195248.2(APTX):c.874+84G>A rs4878522 0.97554
NM_000135.4(FANCA):c.1225+151T>C rs6500451 0.97075
NM_000135.4(FANCA):c.2316+67A>G rs7200990 0.97043
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006 0.86482
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_004629.2(FANCG):c.511-45A>G rs554098 0.75732
NM_021922.3(FANCE):c.249-35A>G rs7757405 0.74257
NM_018124.4(RFWD3):c.269C>A (p.Thr90Asn) rs8058922 0.72932
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_000400.4(ERCC2):c.1758+32C>G rs238417 0.66337
NM_004628.5(XPC):c.2605-40A>G rs2733532 0.65805
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_000400.4(ERCC2):c.247-35G>A rs1799783 0.64393
NM_001033855.3(DCLRE1C):c.109+176G>A rs3814176 0.64311
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_001195248.2(APTX):c.-5+116G>T rs1197774 0.59987
NM_018124.4(RFWD3):c.1212G>A (p.Thr404=) rs4888262 0.58882
NM_000107.3(DDB2):c.1189-21T>C rs326222 0.58082
NM_004629.2(FANCG):c.84+77C>A rs504082 0.54871
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001113525.2(ZNF276):c.*1693A>T rs7195906 0.53795
NM_000135.4(FANCA):c.1226-80T>C rs6500450 0.53395
NM_000135.4(FANCA):c.1084-49G>C rs1800287 0.53385
NM_000135.4(FANCA):c.596+74G>A rs1800285 0.52593
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.2222+107T>C rs886951 0.51679
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_000135.4(FANCA):c.2222+100A>G rs886950 0.51061
NM_000135.4(FANCA):c.1471-119A>T rs12448860 0.50554
NM_000135.4(FANCA):c.1715+82T>C rs1800335 0.50497
NM_000135.4(FANCA):c.1826+99T>A rs7187436 0.50149
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=) rs381309 0.47682
NM_001142633.3(PIK3R5):c.837C>T (p.His279=) rs394811 0.47651
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_014176.4(UBE2T):c.15A>G (p.Ser5=) rs14451 0.47315
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_001142633.3(PIK3R5):c.657+41T>C rs381198 0.46158
NM_000135.4(FANCA):c.1471-73G>A rs2239360 0.45821
NM_000135.4(FANCA):c.596+143T>G rs11076627 0.45367
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_015046.7(SETX):c.6655-24G>A rs11243704 0.44367
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_004628.5(XPC):c.-27G>C rs2607775 0.42677
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_004628.5(XPC):c.2604+28C>G rs2733534 0.41913
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000135.4(FANCA):c.1226-20A>G rs1800330 0.41702
NM_000135.4(FANCA):c.3240-42G>A rs1800345 0.40844
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_001113525.2(ZNF276):c.*1323G>A rs1061646 0.40513
NM_000107.3(DDB2):c.1235-32A>G rs901746 0.40443
NM_000135.4(FANCA):c.1084-29A>G rs6500452 0.39672
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_000136.3(FANCC):c.521+109A>G rs3737142 0.37815
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_001113378.2(FANCI):c.545+30G>A rs1981624 0.37206
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_005236.3(ERCC4):c.1905-35T>C rs1799799 0.36580
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_004628.5(XPC):c.621+44C>G rs3729587 0.34174
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_002485.5(NBN):c.2071-30A>T rs3736639 0.32860
NM_002485.5(NBN):c.2184+123G>A rs7840099 0.32815
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_002485.5(NBN):c.994+233G>A rs6990969 0.32471
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_001142633.3(PIK3R5):c.2383-27T>C rs4791765 0.31643
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_058216.3(RAD51C):c.904+34T>C rs28363318 0.30375
NM_001142633.3(PIK3R5):c.2496-46A>G rs4791764 0.30344
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.1124+18C>T rs2234744 0.30095
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_001142633.3(PIK3R5):c.2299+18T>G rs9903447 0.29072
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=) rs11650737 0.28596
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=) rs16957702 0.28549
NM_018124.4(RFWD3):c.1755-33G>A rs11149759 0.27669
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_004628.5(XPC):c.2061G>A (p.Arg687=) rs2227998 0.26212
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555 0.25433
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=) rs9915880 0.24687
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_001142633.3(PIK3R5):c.2299+13G>A rs9902600 0.24618
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_001018115.3(FANCD2):c.2976+36T>C rs6805869 0.23353
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_005236.3(ERCC4):c.1905-28G>A rs1799800 0.22729
NM_001018115.3(FANCD2):c.990-38C>G rs9809061 0.22591
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_001018115.3(FANCD2):c.2270-28G>T rs34608006 0.19876
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_001033855.3(DCLRE1C):c.780+10C>T rs35927251 0.17583
NM_004629.2(FANCG):c.646+58C>T rs17885726 0.17456
NM_015046.7(SETX):c.7100+27A>G rs2296865 0.16223
NM_001142633.3(PIK3R5):c.205-21C>T rs92535 0.16172
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894 0.14770
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_000135.4(FANCA):c.1006+112G>A rs17226075 0.11964
NM_000135.4(FANCA):c.1083+120G>A rs17226159 0.11919
NM_000135.4(FANCA):c.2602-36G>T rs2159116 0.11784
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_001018115.3(FANCD2):c.1413+38A>C rs7615646 0.10867
NM_000124.4(ERCC6):c.2382+33T>C rs3750749 0.10128
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_001193424.2(SUV39H2):c.850-305C>T rs60006238 0.08419
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_004628.5(XPC):c.901-22A>G rs3731125 0.07731
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_015046.7(SETX):c.6546+32T>A rs2296873 0.07069
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_015046.7(SETX):c.498+30T>C rs11790312 0.05653
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_004628.5(XPC):c.622-16C>G rs3731111 0.02487
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02396
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6936-27T>G rs2296866 0.02083
NM_004628.5(XPC):c.46C>G (p.Leu16Val) rs1870134 0.01876
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_000135.4(FANCA):c.1627-32T>C rs17226337 0.01179
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_004628.5(XPC):c.2028C>T (p.Tyr676=) rs2228004 0.00805
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836 0.00774
NM_004628.5(XPC):c.1841T>C (p.Phe614Ser) rs144766677 0.00716
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_004628.5(XPC):c.860T>G (p.Phe287Cys) rs35629274 0.00642
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_004628.4(XPC):c.-71C>T rs567196401 0.00560
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_004628.5(XPC):c.1734C>A (p.Val578=) rs3731131 0.00479
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn) rs182616621 0.00456
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_015046.7(SETX):c.7287+207C>T rs45490698 0.00451
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_004628.5(XPC):c.780-15C>T rs3731116 0.00344
NM_004628.5(XPC):c.2066C>T (p.Thr689Met) rs3731152 0.00315
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00285
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00229
NM_004628.5(XPC):c.2232A>C (p.Pro744=) rs189619298 0.00221
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_015046.7(SETX):c.5781+10G>A rs537414669 0.00159
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys) rs183238369 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_004628.5(XPC):c.303C>T (p.Asp101=) rs41545713 0.00095
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_004628.5(XPC):c.1539G>C (p.Met513Ile) rs3731130 0.00064
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_015046.7(SETX):c.2955G>A (p.Ser985=) rs201251074 0.00031
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_004629.2(FANCG):c.-7G>A rs772036778 0.00020
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) rs370366576 0.00013
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) rs368677513 0.00011
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821 0.00009
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129 0.00009
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573 0.00009
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile) rs200922390 0.00007
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) rs201781110 0.00007
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.1398-10T>A rs539960851 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_004629.2(FANCG):c.-19G>A rs762155734 0.00006
NM_015046.7(SETX):c.234G>A (p.Lys78=) rs146206138 0.00006
NM_015046.7(SETX):c.3207T>A (p.Thr1069=) rs200585636 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) rs928020122 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=) rs140176235 0.00005
NM_002485.5(NBN):c.1454C>T (p.Thr485Met) rs200891292 0.00005
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) rs572568222 0.00005
NM_002485.5(NBN):c.52C>A (p.Leu18Ile) rs587781939 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_004628.5(XPC):c.147C>T (p.Ser49=) rs376018905 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315 0.00004
NM_002485.5(NBN):c.-10A>T rs759094270 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys) rs544909538 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.481-4G>A rs754864893 0.00004
NM_002485.5(NBN):c.506G>A (p.Arg169His) rs776134250 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) rs377700348 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.721G>A (p.Ala241Thr) rs587781333 0.00004
NM_002485.5(NBN):c.73G>A (p.Val25Ile) rs587781748 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg) rs142379991 0.00003
NM_002485.5(NBN):c.1255A>T (p.Asn419Tyr) rs730881849 0.00003
NM_002485.5(NBN):c.1789A>G (p.Ile597Val) rs864622167 0.00003
NM_002485.5(NBN):c.2002A>G (p.Thr668Ala) rs138913151 0.00003
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr) rs186371605 0.00003
NM_002485.5(NBN):c.207A>G (p.Lys69=) rs754352569 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu) rs767523514 0.00003
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_002485.5(NBN):c.302T>C (p.Val101Ala) rs185493105 0.00003
NM_002485.5(NBN):c.335C>T (p.Pro112Leu) rs759723870 0.00003
NM_002485.5(NBN):c.37G>A (p.Gly13Arg) rs757112911 0.00003
NM_002485.5(NBN):c.509C>T (p.Pro170Leu) rs587782411 0.00003
NM_002485.5(NBN):c.547G>A (p.Ala183Thr) rs151070415 0.00003
NM_002485.5(NBN):c.613A>G (p.Ile205Val) rs730881845 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_002485.5(NBN):c.750G>T (p.Arg250Ser) rs758852942 0.00003
NM_002485.5(NBN):c.80G>T (p.Gly27Val) rs755171159 0.00003
NM_002485.5(NBN):c.935T>C (p.Leu312Ser) rs371480039 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00003
NM_015046.7(SETX):c.5781+9T>C rs772671321 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) rs764270386 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met) rs775960094 0.00002
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.1125-3C>T rs587781326 0.00002
NM_002485.5(NBN):c.1204A>G (p.Thr402Ala) rs201373377 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_002485.5(NBN):c.133C>G (p.His45Asp) rs773865323 0.00002
NM_002485.5(NBN):c.1430C>T (p.Ser477Leu) rs767123014 0.00002
NM_002485.5(NBN):c.1434C>T (p.Cys478=) rs1060503473 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1591A>G (p.Ile531Val) rs587782330 0.00002
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) rs558023830 0.00002
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu) rs587780090 0.00002
NM_002485.5(NBN):c.1845+3A>G rs587780777 0.00002
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873 0.00002
NM_002485.5(NBN):c.1871G>A (p.Arg624His) rs587782297 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg) rs587781547 0.00002
NM_002485.5(NBN):c.193G>A (p.Val65Ile) rs778998026 0.00002
NM_002485.5(NBN):c.2015C>T (p.Pro672Leu) rs6413508 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2036A>G (p.Tyr679Cys) rs370295427 0.00002
NM_002485.5(NBN):c.2070+4G>A rs876660950 0.00002
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln) rs753270166 0.00002
NM_002485.5(NBN):c.24G>A (p.Ala8=) rs779543740 0.00002
NM_002485.5(NBN):c.251A>G (p.Gln84Arg) rs762702597 0.00002
NM_002485.5(NBN):c.254A>G (p.Asn85Ser) rs587780095 0.00002
NM_002485.5(NBN):c.301G>A (p.Val101Met) rs786202139 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.902G>A (p.Gly301Asp) rs749857140 0.00002
NM_002485.5(NBN):c.911C>T (p.Pro304Leu) rs536965870 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_002485.5(NBN):c.949A>G (p.Met317Val) rs587782502 0.00002
NM_015046.7(SETX):c.1467C>T (p.Val489=) rs142093830 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) rs750697305 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu) rs370368422 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) rs751899346 0.00001
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu) rs752800577 0.00001
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131 0.00001
NM_002485.5(NBN):c.-7C>A rs1210776869 0.00001
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala) rs1554560492 0.00001
NM_002485.5(NBN):c.1010C>T (p.Thr337Ile) rs1335655343 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.1063A>G (p.Ser355Gly) rs762376159 0.00001
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr) rs777259845 0.00001
NM_002485.5(NBN):c.1076A>G (p.Asn359Ser) rs768886664 0.00001
NM_002485.5(NBN):c.1090G>A (p.Val364Ile) rs765403660 0.00001
NM_002485.5(NBN):c.1091T>C (p.Val364Ala) rs370229163 0.00001
NM_002485.5(NBN):c.112G>C (p.Asp38His) rs876659565 0.00001
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys) rs772909239 0.00001
NM_002485.5(NBN):c.1152C>G (p.Ile384Met) rs551802153 0.00001
NM_002485.5(NBN):c.1163A>G (p.Lys388Arg) rs947104724 0.00001
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu) rs941732827 0.00001
NM_002485.5(NBN):c.1193A>G (p.Gln398Arg) rs746965070 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser) rs529340553 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) rs756572268 0.00001
NM_002485.5(NBN):c.1285T>G (p.Tyr429Asp) rs587782409 0.00001
NM_002485.5(NBN):c.128G>A (p.Arg43Gln) rs759146120 0.00001
NM_002485.5(NBN):c.1315A>G (p.Ile439Val) rs752837508 0.00001
NM_002485.5(NBN):c.1322A>G (p.Lys441Arg) rs1329281031 0.00001
NM_002485.5(NBN):c.1351C>G (p.Gln451Glu) rs1011573169 0.00001
NM_002485.5(NBN):c.1359C>A (p.Asn453Lys) rs1412358437 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 0.00001
NM_002485.5(NBN):c.1383G>A (p.Pro461=) rs886063169 0.00001
NM_002485.5(NBN):c.1397+3C>G rs876660481 0.00001
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser) rs730881851 0.00001
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly) rs878854505 0.00001
NM_002485.5(NBN):c.1415A>G (p.Asn472Ser) rs750711786 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys) rs776900339 0.00001
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys) rs587781557 0.00001
NM_002485.5(NBN):c.1481A>C (p.Gln494Pro) rs1381248118 0.00001
NM_002485.5(NBN):c.1549A>G (p.Asn517Asp) rs1040315184 0.00001
NM_002485.5(NBN):c.1559A>G (p.Asn520Ser) rs750981708 0.00001
NM_002485.5(NBN):c.1570A>G (p.Thr524Ala) rs1292640945 0.00001
NM_002485.5(NBN):c.1580A>T (p.Asp527Val) rs1554558407 0.00001
NM_002485.5(NBN):c.1618C>T (p.His540Tyr) rs1554558393 0.00001
NM_002485.5(NBN):c.1619A>G (p.His540Arg) rs730881852 0.00001
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly) rs587781624 0.00001
NM_002485.5(NBN):c.1657A>G (p.Met553Val) rs746347634 0.00001
NM_002485.5(NBN):c.1659G>A (p.Met553Ile) rs876659960 0.00001
NM_002485.5(NBN):c.1684G>A (p.Val562Ile) rs754651655 0.00001
NM_002485.5(NBN):c.1703A>G (p.Lys568Arg) rs1488036998 0.00001
NM_002485.5(NBN):c.170T>C (p.Leu57Pro) rs747920256 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.171+4T>C rs587782290 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.172-3C>T rs587781620 0.00001
NM_002485.5(NBN):c.1735A>G (p.Lys579Glu) rs993110145 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys) rs774324419 0.00001
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) rs746632073 0.00001
NM_002485.5(NBN):c.1845+6T>C rs1033050295 0.00001
NM_002485.5(NBN):c.1848A>G (p.Gln616=) rs587782269 0.00001
NM_002485.5(NBN):c.1856A>C (p.Glu619Ala) rs763546746 0.00001
NM_002485.5(NBN):c.1866G>C (p.Lys622Asn) rs587782221 0.00001
NM_002485.5(NBN):c.1873G>A (p.Glu625Lys) rs369049359 0.00001
NM_002485.5(NBN):c.1877T>G (p.Leu626Arg) rs1237629649 0.00001
NM_002485.5(NBN):c.1888T>C (p.Ser630Pro) rs377132067 0.00001
NM_002485.5(NBN):c.1910T>A (p.Ile637Lys) rs876658613 0.00001
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00001
NM_002485.5(NBN):c.1915-8C>T rs368132097 0.00001
NM_002485.5(NBN):c.1919A>G (p.Asn640Ser) rs748073091 0.00001
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly) rs587782155 0.00001
NM_002485.5(NBN):c.1989G>A (p.Val663=) rs757753217 0.00001
NM_002485.5(NBN):c.19G>A (p.Ala7Thr) rs587780779 0.00001
NM_002485.5(NBN):c.2012A>G (p.Asn671Ser) rs1563513183 0.00001
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser) rs200564603 0.00001
NM_002485.5(NBN):c.2071-4A>G rs746994234 0.00001
NM_002485.5(NBN):c.2071G>A (p.Val691Ile) rs772059959 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2129C>T (p.Ala710Val) rs1060503454 0.00001
NM_002485.5(NBN):c.2132A>T (p.His711Leu) rs1810035825 0.00001
NM_002485.5(NBN):c.2134C>A (p.His712Asn) rs781520763 0.00001
NM_002485.5(NBN):c.2134C>T (p.His712Tyr) rs781520763 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.2165G>C (p.Trp722Ser) rs786204181 0.00001
NM_002485.5(NBN):c.2174A>G (p.Gln725Arg) rs878854510 0.00001
NM_002485.5(NBN):c.2176G>A (p.Glu726Lys) rs1421870412 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.2197C>G (p.His733Asp) rs1311278427 0.00001
NM_002485.5(NBN):c.2201C>T (p.Ala734Val) rs751824753 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.286G>A (p.Gly96Ser) rs730882133 0.00001
NM_002485.5(NBN):c.296T>A (p.Phe99Tyr) rs1187898389 0.00001
NM_002485.5(NBN):c.320+6A>G rs757321173 0.00001
NM_002485.5(NBN):c.321-17C>G rs763878712 0.00001
NM_002485.5(NBN):c.321-3C>T rs751356470 0.00001
NM_002485.5(NBN):c.323T>C (p.Ile108Thr) rs775217949 0.00001
NM_002485.5(NBN):c.329A>G (p.Tyr110Cys) rs1355269482 0.00001
NM_002485.5(NBN):c.332A>G (p.Glu111Gly) rs876659320 0.00001
NM_002485.5(NBN):c.350C>T (p.Ser117Phe) rs1060503468 0.00001
NM_002485.5(NBN):c.361G>C (p.Asp121His) rs777916019 0.00001
NM_002485.5(NBN):c.37+3A>G rs764356392 0.00001
NM_002485.5(NBN):c.370G>A (p.Gly124Arg) rs1064794806 0.00001
NM_002485.5(NBN):c.38-5C>T rs775244752 0.00001
NM_002485.5(NBN):c.38-7A>G rs863224392 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002485.5(NBN):c.394A>G (p.Ile132Val) rs756946899 0.00001
NM_002485.5(NBN):c.432A>G (p.Thr144=) rs886043003 0.00001
NM_002485.5(NBN):c.468A>C (p.Lys156Asn) rs730881858 0.00001
NM_002485.5(NBN):c.484A>G (p.Ile162Val) rs750594114 0.00001
NM_002485.5(NBN):c.490G>T (p.Ala164Ser) rs786201252 0.00001
NM_002485.5(NBN):c.493C>A (p.Leu165Ile) rs776810966 0.00001
NM_002485.5(NBN):c.514G>A (p.Val172Ile) rs1586101456 0.00001
NM_002485.5(NBN):c.520C>A (p.Pro174Thr) rs587778546 0.00001
NM_002485.5(NBN):c.567G>A (p.Gln189=) rs1203807404 0.00001
NM_002485.5(NBN):c.584+3A>G rs587782407 0.00001
NM_002485.5(NBN):c.584+9T>C rs746913991 0.00001
NM_002485.5(NBN):c.585-5T>C rs1586088968 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.601G>A (p.Asp201Asn) rs757186245 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.620G>T (p.Ser207Ile) rs587780099 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_002485.5(NBN):c.646C>A (p.Gln216Lys) rs769416 0.00001
NM_002485.5(NBN):c.649G>C (p.Glu217Gln) rs760275251 0.00001
NM_002485.5(NBN):c.64G>A (p.Val22Ile) rs369910645 0.00001
NM_002485.5(NBN):c.656A>G (p.Lys219Arg) rs376951288 0.00001
NM_002485.5(NBN):c.658C>G (p.Gln220Glu) rs876659811 0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=) rs876661098 0.00001
NM_002485.5(NBN):c.692A>G (p.Asn231Ser) rs1309274168 0.00001
NM_002485.5(NBN):c.703C>T (p.His235Tyr) rs1554564044 0.00001
NM_002485.5(NBN):c.772G>C (p.Glu258Gln) rs922057169 0.00001
NM_002485.5(NBN):c.773A>G (p.Glu258Gly) rs786203380 0.00001
NM_002485.5(NBN):c.783T>G (p.Asn261Lys) rs375336614 0.00001
NM_002485.5(NBN):c.793G>A (p.Ala265Thr) rs876658382 0.00001
NM_002485.5(NBN):c.796C>T (p.Pro266Ser) rs762956906 0.00001
NM_002485.5(NBN):c.798G>A (p.Pro266=) rs368786672 0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter) rs779098734 0.00001
NM_002485.5(NBN):c.800G>A (p.Gly267Glu) rs747837246 0.00001
NM_002485.5(NBN):c.806G>A (p.Cys269Tyr) rs768822147 0.00001
NM_002485.5(NBN):c.815A>G (p.Asp272Gly) rs730881847 0.00001
NM_002485.5(NBN):c.820G>A (p.Gly274Arg) rs540837864 0.00001
NM_002485.5(NBN):c.826A>T (p.Thr276Ser) rs1554563895 0.00001
NM_002485.5(NBN):c.827C>G (p.Thr276Arg) rs864622304 0.00001
NM_002485.5(NBN):c.83G>A (p.Arg28Lys) rs876658581 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002485.5(NBN):c.877A>G (p.Ile293Val) rs1283506577 0.00001
NM_002485.5(NBN):c.881T>C (p.Met294Thr) rs779346343 0.00001
NM_002485.5(NBN):c.897G>A (p.Arg299=) rs779798363 0.00001
NM_002485.5(NBN):c.937G>T (p.Ala313Ser) rs876660584 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_002485.5(NBN):c.986C>T (p.Pro329Leu) rs1386471248 0.00001
NM_002485.5(NBN):c.994+5T>C rs778254433 0.00001
NM_004629.2(FANCG):c.1076G>A (p.Arg359Lys) rs755919340 0.00001
NM_004629.2(FANCG):c.1287C>T (p.Pro429=) rs767253119 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) rs200856903 0.00001
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly) rs752140967 0.00001
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) rs778505279 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) rs759945253 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) rs374149839 0.00001
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) rs769964668 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) rs1009296937 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.5950-14G>A rs375632375 0.00001
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00001
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu) rs755531730 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.6351C>T (p.Ser2117=) rs200269892 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7473C>T (p.Pro2491=) rs1173009713 0.00001
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) rs1374204163 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576 0.00001
NM_000124.4(ERCC6):c.3778+1G>A rs1554875114
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser) rs763074159
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg) rs778009295
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.843G>C (p.Leu281Phe) rs2143581630
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser) rs749322338
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001033855.3(DCLRE1C):c.1249T>G (p.Ser417Ala) rs1013537366
NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu) rs2131239353
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly) rs533771936
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001113525.2(ZNF276):c.*607A>G rs1800359
NM_001195248.2(APTX):c.771-12dup rs34600530
NM_002485.5(NBN):c.-2C>A rs202104448
NM_002485.5(NBN):c.-3C>T rs1276313619
NM_002485.5(NBN):c.1006A>G (p.Thr336Ala) rs1554560506
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser) rs1554560467
NM_002485.5(NBN):c.1024C>T (p.Leu342Phe) rs587782656
NM_002485.5(NBN):c.1042G>A (p.Val348Ile) rs1586065979
NM_002485.5(NBN):c.1043T>C (p.Val348Ala) rs876660929
NM_002485.5(NBN):c.1046A>T (p.Asp349Val) rs876659431
NM_002485.5(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1060C>G (p.Pro354Ala) rs1064794336
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu) rs1354459986
NM_002485.5(NBN):c.1063A>T (p.Ser355Cys) rs762376159
NM_002485.5(NBN):c.1073T>G (p.Val358Gly) rs1563538793
NM_002485.5(NBN):c.1078A>C (p.Thr360Pro) rs1307700838
NM_002485.5(NBN):c.1079C>G (p.Thr360Ser) rs879020505
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala) rs1563538728
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.109A>G (p.Asn37Asp) rs876658411
NM_002485.5(NBN):c.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.5(NBN):c.1114G>A (p.Ala372Thr) rs1377878017
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.5(NBN):c.1124+5A>T rs587782108
NM_002485.5(NBN):c.1124+91C>A rs1805818
NM_002485.5(NBN):c.1125-4A>G rs1554559375
NM_002485.5(NBN):c.1133G>C (p.Ser378Thr) rs864622123
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly) rs1563532732
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln) rs772909239
NM_002485.5(NBN):c.1155dup (p.Val386fs) rs748513310
NM_002485.5(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.5(NBN):c.115C>G (p.Gln39Glu) rs377730553
NM_002485.5(NBN):c.115del (p.Gln39fs) rs864622511
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.5(NBN):c.1162A>G (p.Lys388Glu) rs1252203605
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter) rs1554559323
NM_002485.5(NBN):c.1172A>G (p.Gln391Arg) rs201958895
NM_002485.5(NBN):c.1187T>C (p.Leu396Pro) rs182030463
NM_002485.5(NBN):c.1194A>C (p.Gln398His) rs200046373
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.5(NBN):c.11T>C (p.Leu4Pro) rs748090667
NM_002485.5(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.5(NBN):c.1202C>A (p.Pro401His) rs104895033
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.5(NBN):c.121A>G (p.Ile41Val) rs1563584220
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr) rs1473253247
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly) rs1185542329
NM_002485.5(NBN):c.1229G>T (p.Ser410Ile) rs982325971
NM_002485.5(NBN):c.1230C>G (p.Ser410Arg) rs878854504
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.5(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle) rs587781532
NM_002485.5(NBN):c.1244G>A (p.Ser415Asn) rs764832388
NM_002485.5(NBN):c.1255A>C (p.Asn419His) rs730881849
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp) rs730881849
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1268A>G (p.Lys423Arg) rs1444306607
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys) rs1060503478
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr) rs1554559171
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.5(NBN):c.1283A>T (p.Asn428Ile) rs1406123091
NM_002485.5(NBN):c.1284C>G (p.Asn428Lys) rs1586058745
NM_002485.5(NBN):c.1286A>G (p.Tyr429Cys) rs370121348
NM_002485.5(NBN):c.1289A>G (p.Gln430Arg) rs1563531531
NM_002485.5(NBN):c.1290G>C (p.Gln430His) rs1554559149
NM_002485.5(NBN):c.1295C>T (p.Ser432Leu) rs1258938703
NM_002485.5(NBN):c.1301C>A (p.Thr434Asn) rs757452107
NM_002485.5(NBN):c.1301C>G (p.Thr434Ser) rs757452107
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile) rs757452107
NM_002485.5(NBN):c.1312A>G (p.Ser438Gly) rs1456827107
NM_002485.5(NBN):c.1313G>A (p.Ser438Asn) rs786203131
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile) rs786203131
NM_002485.5(NBN):c.1324A>G (p.Ser442Gly) rs1554559097
NM_002485.5(NBN):c.1331A>C (p.Asp444Ala) rs1237800234
NM_002485.5(NBN):c.1335G>T (p.Arg445Ser) rs1554559085
NM_002485.5(NBN):c.1336G>A (p.Ala446Thr) rs1586058411
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1352A>G (p.Gln451Arg) rs1554559068
NM_002485.5(NBN):c.1352_1353delinsCC (p.Gln451Pro) rs1554559065
NM_002485.5(NBN):c.1363A>G (p.Ile455Val) rs1554559041
NM_002485.5(NBN):c.1366del (p.Arg456fs) rs1554559038
NM_002485.5(NBN):c.1368A>C (p.Arg456Ser) rs1554559036
NM_002485.5(NBN):c.1369A>G (p.Asn457Asp) rs1554559034
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser) rs876659312
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1397+4T>C rs770699381
NM_002485.5(NBN):c.1397+4T>G rs770699381
NM_002485.5(NBN):c.1398-10T>C rs539960851
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.13C>G (p.Leu5Val) rs1563588747
NM_002485.5(NBN):c.1403G>A (p.Arg468Lys) rs781213350
NM_002485.5(NBN):c.1403G>C (p.Arg468Thr) rs781213350
NM_002485.5(NBN):c.1405G>A (p.Asp469Asn) rs148205441
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly) rs780365310
NM_002485.5(NBN):c.1409A>G (p.Glu470Gly) rs876660501
NM_002485.5(NBN):c.1410A>G (p.Glu470=) rs1554558592
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu) rs755805461
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter) rs755805461
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs) rs864622333
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1423A>C (p.Met475Leu) rs767106269
NM_002485.5(NBN):c.1425G>C (p.Met475Ile) rs1180796619
NM_002485.5(NBN):c.1429T>C (p.Ser477Pro) rs1586054780
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser) rs1199013619
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly) rs886063168
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr) rs876658347
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.1463C>G (p.Ser488Cys) rs1060503472
NM_002485.5(NBN):c.1469T>C (p.Leu490Ser) rs1586054565
NM_002485.5(NBN):c.1474C>A (p.Gln492Lys) rs587782130
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.5(NBN):c.1476A>C (p.Gln492His) rs1382919150
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.5(NBN):c.1496C>T (p.Ser499Leu) rs772411713
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser) rs1563526901
NM_002485.5(NBN):c.149C>T (p.Ala50Val) rs1554569035
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys) rs876660751
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg) rs757754183
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu) rs876658535
NM_002485.5(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.5(NBN):c.1521T>A (p.His507Gln) rs1586054212
NM_002485.5(NBN):c.1526C>A (p.Ser509Tyr) rs1554558450
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp) rs1283330641
NM_002485.5(NBN):c.1534G>C (p.Glu512Gln) rs1554558445
NM_002485.5(NBN):c.1546A>G (p.Thr516Ala) rs376653589
NM_002485.5(NBN):c.1551C>A (p.Asn517Lys) rs876658744
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp) rs944499155
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1575T>A (p.Asp525Glu) rs587782150
NM_002485.5(NBN):c.1588T>C (p.Ser530Pro) rs1554558401
NM_002485.5(NBN):c.1594G>A (p.Val532Met) rs545435120
NM_002485.5(NBN):c.1594G>T (p.Val532Leu) rs545435120
NM_002485.5(NBN):c.1616C>G (p.Ser539Cys) rs768431216
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly) rs876658501
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1642A>G (p.Asn548Asp) rs772234785
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln) rs1064793213
NM_002485.5(NBN):c.1666G>A (p.Val556Met) rs771567358
NM_002485.5(NBN):c.1672A>C (p.Ile558Leu) rs876659451
NM_002485.5(NBN):c.1672A>G (p.Ile558Val) rs876659451
NM_002485.5(NBN):c.167A>G (p.Asn56Ser) rs1554569009
NM_002485.5(NBN):c.1685T>G (p.Val562Gly) rs1060503455
NM_002485.5(NBN):c.1687T>A (p.Leu563Met) rs1466493008
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu) rs1554558312
NM_002485.5(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.5(NBN):c.1700T>G (p.Phe567Cys) rs980167139
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu) rs730881853
NM_002485.5(NBN):c.1708A>G (p.Thr570Ala) rs730881854
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu) rs1554558303
NM_002485.5(NBN):c.1720T>G (p.Leu574Val) rs142334798
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1732G>T (p.Val578Leu) rs1554558284
NM_002485.5(NBN):c.1735A>C (p.Lys579Gln) rs993110145
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1756G>C (p.Asp586His) rs786202588
NM_002485.5(NBN):c.1757A>G (p.Asp586Gly) rs1810527909
NM_002485.5(NBN):c.1780A>G (p.Arg594Gly) rs1554558241
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly) rs1005715125
NM_002485.5(NBN):c.1787A>T (p.Asp596Val) rs1005715125
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu) rs864622167
NM_002485.5(NBN):c.1791A>G (p.Ile597Met) rs1810523727
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg) rs775848374
NM_002485.5(NBN):c.17C>T (p.Pro6Leu) rs876658432
NM_002485.5(NBN):c.1805C>G (p.Thr602Ser) rs1563524801
NM_002485.5(NBN):c.1805C>T (p.Thr602Ile) rs1563524801
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1825C>A (p.Pro609Thr) rs372012641
NM_002485.5(NBN):c.182A>G (p.Asp61Gly) rs1460282206
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu) rs1554558199
NM_002485.5(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.5(NBN):c.1845+10A>G rs570914185
NM_002485.5(NBN):c.1845+2dup rs1586052628
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs) rs1060503466
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.5(NBN):c.1871G>T (p.Arg624Leu) rs587782297
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg) rs762174459
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.1885G>T (p.Asp629Tyr) rs745559078
NM_002485.5(NBN):c.188T>A (p.Ile63Asn) rs961554359
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1891C>G (p.Leu631Val) rs1064793477
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg) rs1586043635
NM_002485.5(NBN):c.1898C>T (p.Ser633Leu) rs1554556897
NM_002485.5(NBN):c.189C>T (p.Ile63=) rs1554568383
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.5(NBN):c.190C>T (p.Pro64Ser) rs267602038
NM_002485.5(NBN):c.1911_1914+1del rs1554556880
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.5(NBN):c.1914+2_1914+3del rs1586043528
NM_002485.5(NBN):c.1914+3G>A rs1554556878
NM_002485.5(NBN):c.191C>T (p.Pro64Leu) rs1563581492
NM_002485.5(NBN):c.1922A>G (p.Asp641Gly) rs921235584
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys) rs764050423
NM_002485.5(NBN):c.1933G>A (p.Asp645Asn) rs1064796613
NM_002485.5(NBN):c.1933G>T (p.Asp645Tyr) rs1064796613
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.5(NBN):c.1946T>C (p.Met649Thr) rs1554556582
NM_002485.5(NBN):c.1947G>A (p.Met649Ile) rs1554556579
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.1975T>G (p.Phe659Val) rs1060503469
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys) rs201781110
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu) rs1554556544
NM_002485.5(NBN):c.199A>G (p.Thr67Ala) rs876660922
NM_002485.5(NBN):c.2003C>T (p.Thr668Ile) rs876658336
NM_002485.5(NBN):c.2022C>T (p.Gly674=) rs1554556503
NM_002485.5(NBN):c.2027A>G (p.Asn676Ser) rs1404296922
NM_002485.5(NBN):c.202T>G (p.Leu68Val) rs1200599843
NM_002485.5(NBN):c.2039G>T (p.Gly680Val) rs1425101720
NM_002485.5(NBN):c.2051A>G (p.Asn684Ser) rs1554556477
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser) rs1181142133
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2070+5G>A rs1323512485
NM_002485.5(NBN):c.2070+6T>C rs1810172843
NM_002485.5(NBN):c.2071-4A>T rs746994234
NM_002485.5(NBN):c.2071-6C>A rs768670249
NM_002485.5(NBN):c.2071G>T (p.Val691Phe) rs772059959
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile) rs1060503474
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg) rs746090959
NM_002485.5(NBN):c.2083G>A (p.Gly695Arg) rs1554555835
NM_002485.5(NBN):c.2084G>A (p.Gly695Glu) rs1554555834
NM_002485.5(NBN):c.2086G>T (p.Ala696Ser) rs749276965
NM_002485.5(NBN):c.2087C>T (p.Ala696Val) rs1462278909
NM_002485.5(NBN):c.2096T>C (p.Leu699Pro) rs1810039016
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr) rs1060503461
NM_002485.5(NBN):c.210T>G (p.Asp70Glu) rs1554568357
NM_002485.5(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.2120_2128del (p.Asp707_Ile709del) rs1563508381
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro) rs1554555808
NM_002485.5(NBN):c.212_215del (p.Asn71fs) rs1064795634
NM_002485.5(NBN):c.2131C>T (p.His711Tyr) rs780333168
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly) rs986903713
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup) rs864622241
NM_002485.5(NBN):c.2158G>A (p.Glu720Lys) rs876660294
NM_002485.5(NBN):c.215C>T (p.Ser72Phe) rs1060503484
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly) rs1554555748
NM_002485.5(NBN):c.2174A>C (p.Gln725Pro) rs878854510
NM_002485.5(NBN):c.2185-7T>G rs1563497932
NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr) rs369649307
NM_002485.5(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.5(NBN):c.2206G>C (p.Glu736Gln) rs756831345
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.5(NBN):c.2206del (p.Glu736fs) rs1809724889
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2210A>T (p.Glu737Val) rs1554554247
NM_002485.5(NBN):c.2211G>T (p.Glu737Asp) rs753596803
NM_002485.5(NBN):c.2213C>T (p.Ser738Phe) rs876659097
NM_002485.5(NBN):c.2219C>T (p.Ala740Val) rs1554554240
NM_002485.5(NBN):c.221A>G (p.Tyr74Cys) rs1060503471
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr) rs746479577
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu) rs767523514
NM_002485.5(NBN):c.2227_2228del (p.Leu743fs) rs876659551
NM_002485.5(NBN):c.2232del (p.Phe744fs) rs1554554233
NM_002485.5(NBN):c.2235-3C>T rs1554553897
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.2240A>G (p.Asn747Ser) rs766237464
NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe) rs864622446
NM_002485.5(NBN):c.227C>T (p.Thr76Ile) rs587781412
NM_002485.5(NBN):c.231T>A (p.Phe77Leu) rs1554568336
NM_002485.5(NBN):c.235A>C (p.Asn79His) rs786202749
NM_002485.5(NBN):c.235A>G (p.Asn79Asp) rs786202749
NM_002485.5(NBN):c.23C>G (p.Ala8Gly) rs1060503459
NM_002485.5(NBN):c.241G>C (p.Glu81Gln) rs1064795037
NM_002485.5(NBN):c.247A>G (p.Met83Val) rs955258267
NM_002485.5(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.5(NBN):c.248T>A (p.Met83Lys) rs940160589
NM_002485.5(NBN):c.249G>A (p.Met83Ile) rs1438838735
NM_002485.5(NBN):c.250C>A (p.Gln84Lys) rs1586108714
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer) rs1586108633
NM_002485.5(NBN):c.27C>T (p.Gly9=) rs1554569662
NM_002485.5(NBN):c.289A>G (p.Ile97Val) rs730881855
NM_002485.5(NBN):c.28C>A (p.Pro10Thr) rs758228844
NM_002485.5(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.5(NBN):c.304T>C (p.Phe102Leu) rs1554568285
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.308G>T (p.Gly103Val) rs1554568272
NM_002485.5(NBN):c.310A>G (p.Ser104Gly) rs876658400
NM_002485.5(NBN):c.315A>G (p.Lys105=) rs13312858
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.320G>A (p.Arg107Lys) rs1345924774
NM_002485.5(NBN):c.332A>C (p.Glu111Ala) rs876659320
NM_002485.5(NBN):c.335C>G (p.Pro112Arg) rs759723870
NM_002485.5(NBN):c.340G>A (p.Val114Ile) rs771034958
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.343G>T (p.Ala115Ser) rs876658434
NM_002485.5(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.356G>A (p.Cys119Tyr) rs749272832
NM_002485.5(NBN):c.356G>C (p.Cys119Ser) rs749272832
NM_002485.5(NBN):c.356G>T (p.Cys119Phe) rs749272832
NM_002485.5(NBN):c.35G>A (p.Gly12Glu) rs730881860
NM_002485.5(NBN):c.35G>C (p.Gly12Ala) rs730881860
NM_002485.5(NBN):c.367T>G (p.Ser123Ala) rs786203615
NM_002485.5(NBN):c.36A>C (p.Gly12=) rs1554569658
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.37+6G>C rs540868733
NM_002485.5(NBN):c.37+6G>T rs540868733
NM_002485.5(NBN):c.37+8C>T rs1554569655
NM_002485.5(NBN):c.373A>C (p.Lys125Gln) rs1563579253
NM_002485.5(NBN):c.376A>T (p.Thr126Ser) rs1484120047
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002485.5(NBN):c.38-3C>G rs876661099
NM_002485.5(NBN):c.388C>G (p.Gln130Glu) rs1586107038
NM_002485.5(NBN):c.392C>G (p.Ala131Gly) rs1469136096
NM_002485.5(NBN):c.396A>G (p.Ile132Met) rs1060503462
NM_002485.5(NBN):c.3G>A (p.Met1Ile) rs1554569682
NM_002485.5(NBN):c.401A>G (p.Gln134Arg) rs1586106962
NM_002485.5(NBN):c.403C>G (p.Leu135Val) rs1409617560
NM_002485.5(NBN):c.406G>A (p.Gly136Arg) rs1554567936
NM_002485.5(NBN):c.40G>A (p.Glu14Lys) rs745439506
NM_002485.5(NBN):c.431C>G (p.Thr144Arg) rs1554567906
NM_002485.5(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.5(NBN):c.442A>G (p.Thr148Ala) rs1060503479
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.451G>T (p.Val151Phe) rs587781549
NM_002485.5(NBN):c.454A>G (p.Met152Val) rs1554567872
NM_002485.5(NBN):c.458T>C (p.Val153Ala) rs1554567865
NM_002485.5(NBN):c.480+3A>G rs756817252
NM_002485.5(NBN):c.480+5G>A rs753578226
NM_002485.5(NBN):c.480A>G (p.Lys160=) rs1554567842
NM_002485.5(NBN):c.486A>G (p.Ile162Met) rs1554566760
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.511A>C (p.Ile171Leu) rs61754966
NM_002485.5(NBN):c.515T>C (p.Val172Ala) rs1554566701
NM_002485.5(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.5(NBN):c.523G>C (p.Glu175Gln) rs730881861
NM_002485.5(NBN):c.527_538del (p.Tyr176_Glu179del) rs1811866878
NM_002485.5(NBN):c.530T>C (p.Phe177Ser) rs1064796090
NM_002485.5(NBN):c.535G>A (p.Glu179Lys) rs1293382034
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs) rs1554566678
NM_002485.5(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.5(NBN):c.537A>T (p.Glu179Asp) rs1554566673
NM_002485.5(NBN):c.550G>T (p.Val184Phe) rs1554566641
NM_002485.5(NBN):c.55_56del (p.Leu19fs) rs876659305
NM_002485.5(NBN):c.565C>G (p.Gln189Glu) rs1198614767
NM_002485.5(NBN):c.572C>T (p.Pro191Leu) rs876661071
NM_002485.5(NBN):c.578T>C (p.Ile193Thr) rs1586101162
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.584+5A>G rs1309889719
NM_002485.5(NBN):c.584+6T>C rs1554566602
NM_002485.5(NBN):c.584G>A (p.Ser195Asn) rs1811862674
NM_002485.5(NBN):c.585-3C>T rs779430868
NM_002485.5(NBN):c.589dup (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.590A>G (p.Tyr197Cys) rs1563562194
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.592C>T (p.Pro198Ser) rs1554564306
NM_002485.5(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.5(NBN):c.59C>T (p.Thr20Ile) rs1563584711
NM_002485.5(NBN):c.602A>G (p.Asp201Gly) rs587780098
NM_002485.5(NBN):c.602A>T (p.Asp201Val) rs587780098
NM_002485.5(NBN):c.607C>A (p.Pro203Thr) rs1554564291
NM_002485.5(NBN):c.611C>G (p.Ser204Cys) rs876659478
NM_002485.5(NBN):c.614T>C (p.Ile205Thr) rs786203215
NM_002485.5(NBN):c.640G>C (p.Gly214Arg) rs1554564269
NM_002485.5(NBN):c.653G>T (p.Arg218Ile) rs786202250
NM_002485.5(NBN):c.655A>C (p.Lys219Gln) rs730881846
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.662T>C (p.Ile221Thr) rs1187082186
NM_002485.5(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.5(NBN):c.677C>T (p.Thr226Ile) rs1554564219
NM_002485.5(NBN):c.680T>C (p.Phe227Ser) rs749025721
NM_002485.5(NBN):c.680T>G (p.Phe227Cys) rs749025721
NM_002485.5(NBN):c.682A>G (p.Ile228Val) rs1204337347
NM_002485.5(NBN):c.684A>G (p.Ile228Met) rs1064793416
NM_002485.5(NBN):c.687T>G (p.Phe229Leu) rs876660152
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.702+8T>C rs1563561325
NM_002485.5(NBN):c.703-3T>C rs876659566
NM_002485.5(NBN):c.703C>G (p.His235Asp) rs1554564044
NM_002485.5(NBN):c.704A>G (p.His235Arg) rs769519885
NM_002485.5(NBN):c.706A>G (p.Lys236Glu) rs1060503482
NM_002485.5(NBN):c.715A>C (p.Ser239Arg) rs587781868
NM_002485.5(NBN):c.724G>A (p.Val242Ile) rs1434146100
NM_002485.5(NBN):c.727G>C (p.Val243Leu) rs786203253
NM_002485.5(NBN):c.737G>A (p.Gly246Asp) rs1554564023
NM_002485.5(NBN):c.737del (p.Gly246fs) rs1811464751
NM_002485.5(NBN):c.73G>T (p.Val25Phe) rs587781748
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.754A>G (p.Ile252Val) rs587782746
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.5(NBN):c.75dup (p.Val26fs) rs1199711768
NM_002485.5(NBN):c.765G>C (p.Glu255Asp) rs2129830286
NM_002485.5(NBN):c.767A>G (p.Asn256Ser) rs1554563994
NM_002485.5(NBN):c.779A>C (p.His260Pro) rs1328090653
NM_002485.5(NBN):c.786C>G (p.Phe262Leu) rs372159380
NM_002485.5(NBN):c.787T>A (p.Phe263Ile) rs1554563966
NM_002485.5(NBN):c.796C>G (p.Pro266Ala) rs762956906
NM_002485.5(NBN):c.800dup (p.Thr268fs) rs1554563955
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.811G>A (p.Val271Ile) rs876659388
NM_002485.5(NBN):c.811G>T (p.Val271Phe) rs876659388
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.5(NBN):c.818C>T (p.Thr273Ile) rs1554563912
NM_002485.5(NBN):c.829A>G (p.Asn277Asp) rs1563559349
NM_002485.5(NBN):c.82A>G (p.Arg28Gly) rs1563584545
NM_002485.5(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.5(NBN):c.836A>C (p.Gln279Pro) rs864622116
NM_002485.5(NBN):c.836A>G (p.Gln279Arg) rs864622116
NM_002485.5(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.5(NBN):c.854G>C (p.Cys285Ser) rs863224715
NM_002485.5(NBN):c.866G>T (p.Trp289Leu) rs876660117
NM_002485.5(NBN):c.86A>G (p.Lys29Arg) rs1554569112
NM_002485.5(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.874T>C (p.Ser292Pro) rs876660700
NM_002485.5(NBN):c.879A>G (p.Ile293Met) rs1811450612
NM_002485.5(NBN):c.880A>T (p.Met294Leu) rs746381477
NM_002485.5(NBN):c.884A>C (p.Asp295Ala) rs1208423434
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.899A>G (p.Gln300Arg) rs758070132
NM_002485.5(NBN):c.911C>G (p.Pro304Arg) rs536965870
NM_002485.5(NBN):c.914T>C (p.Ile305Thr) rs1586076225
NM_002485.5(NBN):c.917del (p.Pro306fs) rs1554562185
NM_002485.5(NBN):c.91T>C (p.Cys31Arg) rs876658553
NM_002485.5(NBN):c.923C>G (p.Ala308Gly) rs1554562176
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.5(NBN):c.932G>A (p.Gly311Glu) rs1563548856
NM_002485.5(NBN):c.932G>T (p.Gly311Val) rs1563548856
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.5(NBN):c.936G>C (p.Leu312Phe) rs148517156
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.949A>T (p.Met317Leu) rs587782502
NM_002485.5(NBN):c.950T>C (p.Met317Thr) rs1586075983
NM_002485.5(NBN):c.953C>T (p.Thr318Ile) rs1811146292
NM_002485.5(NBN):c.955A>G (p.Thr319Ala) rs876659969
NM_002485.5(NBN):c.958A>G (p.Lys320Glu) rs1563548624
NM_002485.5(NBN):c.960G>T (p.Lys320Asn) rs1554562125
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr) rs730881848
NM_002485.5(NBN):c.974C>T (p.Pro325Leu) rs1586075820
NM_002485.5(NBN):c.974del (p.Pro325fs) rs1554562110
NM_002485.5(NBN):c.976C>G (p.Gln326Glu) rs121908973
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002485.5(NBN):c.97A>G (p.Ile33Val) rs1563584435
NM_002485.5(NBN):c.983A>G (p.His328Arg) rs1554562099
NM_002485.5(NBN):c.992C>G (p.Thr331Arg) rs587782905
NM_002485.5(NBN):c.993A>G (p.Thr331=) rs876659523
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.5(XPC):c.1897C>T (p.Pro633Ser) rs749104732
NM_004628.5(XPC):c.2251-37C>G rs2470353
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter) rs1829085768
NM_004629.2(FANCG):c.842del (p.Pro281fs) rs2131055994
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) rs1847020598
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.3651G>C (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) rs1554820336
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015046.7(SETX):c.667C>A (p.Leu223Ile) rs774068411
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7725G>A (p.Pro2575=) rs201695580
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_022725.4(FANCF):c.-10C>T rs3740615

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