ClinVar Miner

List of variants reported as uncertain significance for aplastic anemia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1296
Download table as spreadsheet
HGVS dbSNP
NC_000013.11:g.32315487G>T
NC_000017.11:g.61863560C>T
NC_000019.10:g.41860100C>G
NC_000019.10:g.41860240G>A
NM_000059.3(BRCA2):c.*172G>A rs574944914
NM_000059.3(BRCA2):c.*292A>C rs886050112
NM_000059.3(BRCA2):c.*345A>G rs886050113
NM_000059.3(BRCA2):c.*360dup rs886050114
NM_000059.3(BRCA2):c.*390A>G rs56003538
NM_000059.3(BRCA2):c.*399T>C rs886050115
NM_000059.3(BRCA2):c.*416G>T rs886050116
NM_000059.3(BRCA2):c.*50A>G rs761312704
NM_000059.3(BRCA2):c.*545T>C rs536333595
NM_000059.3(BRCA2):c.*675C>A rs886050117
NM_000059.3(BRCA2):c.*696G>A rs886050118
NM_000059.3(BRCA2):c.*753C>T rs190094748
NM_000059.3(BRCA2):c.*854T>C rs572993583
NM_000059.3(BRCA2):c.-210A>G rs886050111
NM_000059.3(BRCA2):c.-40+7G>T rs1555279969
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.3(BRCA2):c.1274A>G (p.Glu425Gly) rs768169574
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) rs147381487
NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296
NM_000059.3(BRCA2):c.2240A>G (p.Glu747Gly) rs397507283
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.2596G>A (p.Glu866Lys) rs864622476
NM_000059.3(BRCA2):c.2606C>T (p.Ser869Leu) rs80358523
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.3226G>A (p.Val1076Ile) rs431825304
NM_000059.3(BRCA2):c.323A>G (p.Asn108Ser) rs80358568
NM_000059.3(BRCA2):c.3415A>C (p.Lys1139Gln) rs747903103
NM_000059.3(BRCA2):c.3447G>A (p.Met1149Ile) rs876660471
NM_000059.3(BRCA2):c.3495T>C (p.His1165=) rs776655838
NM_000059.3(BRCA2):c.3497T>A (p.Val1166Asp) rs762886975
NM_000059.3(BRCA2):c.3824T>C (p.Ile1275Thr) rs80358625
NM_000059.3(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) rs80358705
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217
NM_000059.3(BRCA2):c.5267T>A (p.Val1756Glu) rs770664957
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5602G>A (p.Asp1868Asn) rs80358781
NM_000059.3(BRCA2):c.5604C>T (p.Asp1868=) rs1401654517
NM_000059.3(BRCA2):c.561G>A (p.Glu187=) rs754678843
NM_000059.3(BRCA2):c.587G>T (p.Ser196Ile) rs80358818
NM_000059.3(BRCA2):c.608C>A (p.Thr203Asn) rs398122547
NM_000059.3(BRCA2):c.6101G>A (p.Arg2034His) rs80358849
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.628A>G (p.Ile210Val) rs1555281106
NM_000059.3(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.6713A>G (p.Asp2238Gly) rs80358895
NM_000059.3(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904
NM_000059.3(BRCA2):c.679G>A (p.Ala227Thr) rs398122563
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.7034A>G (p.Gln2345Arg) rs876661187
NM_000059.3(BRCA2):c.7104G>A (p.Leu2368=) rs764698623
NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.7464A>C (p.Arg2488Ser) rs80358969
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.8042C>G (p.Thr2681Arg) rs587782519
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) rs80359097
NM_000059.3(BRCA2):c.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.3(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.3(BRCA2):c.8834A>G (p.Gln2945Arg) rs587781800
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613
NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.3(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476
NM_000059.3(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.4(BRCA2):c.*134C>T
NM_000059.4(BRCA2):c.*271C>A
NM_000059.4(BRCA2):c.*623C>T
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr) rs80358396
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu)
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.4(BRCA2):c.632-3C>T
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.4(BRCA2):c.844C>G (p.His282Asp)
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.4(BRCA2):c.942A>G (p.Lys314=) rs1384322636
NM_000059.4(BRCA2):c.9502-12T>G rs81002803
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9760A>G (p.Lys3254Glu)
NM_000135.4(FANCA):c.*1012A>G rs886052477
NM_000135.4(FANCA):c.*104G>A
NM_000135.4(FANCA):c.*109C>T
NM_000135.4(FANCA):c.*138T>A
NM_000135.4(FANCA):c.*144G>C
NM_000135.4(FANCA):c.*146C>T rs556325258
NM_000135.4(FANCA):c.*166G>A rs886052479
NM_000135.4(FANCA):c.*172G>A
NM_000135.4(FANCA):c.*317G>A rs201817705
NM_000135.4(FANCA):c.*42A>T
NM_000135.4(FANCA):c.*447T>C rs771942409
NM_000135.4(FANCA):c.*521C>T rs144644592
NM_000135.4(FANCA):c.*625C>T
NM_000135.4(FANCA):c.*672G>C
NM_000135.4(FANCA):c.*819T>C rs186050933
NM_000135.4(FANCA):c.*843C>T rs201316239
NM_000135.4(FANCA):c.*851G>A rs886052478
NM_000135.4(FANCA):c.*937A>G rs55794507
NM_000135.4(FANCA):c.-18G>A rs886038245
NM_000135.4(FANCA):c.-28C>G rs886052490
NM_000135.4(FANCA):c.1007-7C>G rs111271660
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1226-12G>C
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753
NM_000135.4(FANCA):c.1471-10C>G
NM_000135.4(FANCA):c.1471-12A>G rs9282684
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.1567-11C>A rs34353618
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
NM_000135.4(FANCA):c.1777-15C>G rs371919426
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
NM_000135.4(FANCA):c.1826+4T>A
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.189+12C>G rs753101174
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.18C>G (p.Val6=)
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2152-13T>C
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2852+12A>T
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349-3C>T rs373861415
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3514-13G>A rs200270574
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3626+7G>A rs933657325
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658
NM_000135.4(FANCA):c.3766-14G>A rs34476949
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe)
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.4010+12C>T
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro)
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4261-9C>G rs368506826
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) rs147406377
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro) rs886052488
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.610C>G (p.His204Asp)
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000135.4(FANCA):c.701T>C (p.Met234Thr) rs145869646
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.80-13C>T rs189841793
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377
NM_000136.3(FANCC):c.*1028C>T
NM_000136.3(FANCC):c.*1045C>T rs537983135
NM_000136.3(FANCC):c.*1059A>T
NM_000136.3(FANCC):c.*1096T>C
NM_000136.3(FANCC):c.*1197A>G
NM_000136.3(FANCC):c.*1276C>A rs1057515698
NM_000136.3(FANCC):c.*1332A>G rs191983554
NM_000136.3(FANCC):c.*1339C>T rs144155068
NM_000136.3(FANCC):c.*1359C>G rs1009336483
NM_000136.3(FANCC):c.*1379C>G
NM_000136.3(FANCC):c.*143A>G rs189154697
NM_000136.3(FANCC):c.*1468C>T
NM_000136.3(FANCC):c.*1483T>C rs552548603
NM_000136.3(FANCC):c.*1495T>G rs41281198
NM_000136.3(FANCC):c.*1515C>T
NM_000136.3(FANCC):c.*1649A>G
NM_000136.3(FANCC):c.*1675A>G
NM_000136.3(FANCC):c.*1727T>C rs4647557
NM_000136.3(FANCC):c.*1895T>G rs56161090
NM_000136.3(FANCC):c.*1901C>T
NM_000136.3(FANCC):c.*1976C>T
NM_000136.3(FANCC):c.*2052G>C rs539833295
NM_000136.3(FANCC):c.*2128C>T rs567507884
NM_000136.3(FANCC):c.*2164G>T
NM_000136.3(FANCC):c.*2246G>T
NM_000136.3(FANCC):c.*2296G>A rs561975553
NM_000136.3(FANCC):c.*2305G>A rs562465438
NM_000136.3(FANCC):c.*2308G>A
NM_000136.3(FANCC):c.*2402G>C
NM_000136.3(FANCC):c.*249C>T rs1046795121
NM_000136.3(FANCC):c.*2524G>A
NM_000136.3(FANCC):c.*2528A>G rs1057515696
NM_000136.3(FANCC):c.*254G>A rs773331481
NM_000136.3(FANCC):c.*2564C>T
NM_000136.3(FANCC):c.*267G>A
NM_000136.3(FANCC):c.*338C>A rs920400068
NM_000136.3(FANCC):c.*431T>C
NM_000136.3(FANCC):c.*450G>A rs149227790
NM_000136.3(FANCC):c.*476A>T
NM_000136.3(FANCC):c.*483A>G
NM_000136.3(FANCC):c.*516T>G rs1004604171
NM_000136.3(FANCC):c.*576C>T rs1057515701
NM_000136.3(FANCC):c.*577G>A
NM_000136.3(FANCC):c.*667C>T rs150462386
NM_000136.3(FANCC):c.*825C>A rs1057515700
NM_000136.3(FANCC):c.*884C>T rs1038927110
NM_000136.3(FANCC):c.*96A>G
NM_000136.3(FANCC):c.*97dup rs1057515705
NM_000136.3(FANCC):c.*983C>T rs56059656
NM_000136.3(FANCC):c.*984G>A
NM_000136.3(FANCC):c.-172G>T rs1057515706
NM_000136.3(FANCC):c.-225C>T rs182633348
NM_000136.3(FANCC):c.-246A>G rs1000528763
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080
NM_000136.3(FANCC):c.1534-8G>A
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg) rs199968672
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) rs730881711
NM_000136.3(FANCC):c.542C>T (p.Ala181Val) rs182879858
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000619.3(IFNG):c.*107A>G rs886049800
NM_000619.3(IFNG):c.*187T>G
NM_000619.3(IFNG):c.*22T>A
NM_000619.3(IFNG):c.*231T>C
NM_000619.3(IFNG):c.*93_*96TCAA[1] rs137854903
NM_000619.3(IFNG):c.*9C>T rs886049801
NM_000619.3(IFNG):c.-2C>A rs886049802
NM_000619.3(IFNG):c.-34T>G rs752463155
NM_000619.3(IFNG):c.-5A>G rs181407537
NM_000619.3(IFNG):c.-9T>C rs886049803
NM_000619.3(IFNG):c.114+11C>T rs200610212
NM_000619.3(IFNG):c.183+15C>G
NM_000619.3(IFNG):c.285C>T (p.Thr95=)
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter) rs753611452
NM_000619.3(IFNG):c.431C>T (p.Ser144Leu)
NM_000969.5(RPL5):c.-2G>A rs886046558
NM_000969.5(RPL5):c.-46C>G rs376208311
NM_000969.5(RPL5):c.-64C>G
NM_000969.5(RPL5):c.-70T>A rs551112484
NM_000969.5(RPL5):c.-74C>A
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124
NM_000969.5(RPL5):c.3+11G>C
NM_000969.5(RPL5):c.4-10T>C
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg)
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp)
NM_000975.5(RPL11):c.-14T>C rs886046307
NM_000975.5(RPL11):c.158-7C>T rs768654673
NM_000975.5(RPL11):c.264+9A>T
NM_000975.5(RPL11):c.270G>A (p.Arg90=) rs886046308
NM_000975.5(RPL11):c.287A>G (p.Lys96Arg)
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309
NM_000996.4(RPL35A):c.-31C>T rs766043927
NM_000996.4(RPL35A):c.-33G>A rs564722971
NM_000996.4(RPL35A):c.-37T>G rs886058265
NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp)
NM_001011.4(RPS7):c.-13C>T rs765604580
NM_001011.4(RPS7):c.-23G>A rs886055985
NM_001011.4(RPS7):c.-27C>T rs573443780
NM_001011.4(RPS7):c.-44C>T rs563293592
NM_001011.4(RPS7):c.-86C>T rs186304514
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516
NM_001011.4(RPS7):c.580T>C (p.Leu194=)
NM_001014.5(RPS10):c.*25G>T rs886061321
NM_001014.5(RPS10):c.-27C>A
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-38_-37del rs1581933797
NM_001014.5(RPS10):c.-9G>C
NM_001014.5(RPS10):c.168C>T (p.Gly56=)
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322
NM_001018113.3(FANCB):c.*151A>G
NM_001018113.3(FANCB):c.-111A>G
NM_001018113.3(FANCB):c.-219G>T
NM_001018113.3(FANCB):c.-230A>T rs1020271259
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421
NM_001018115.3(FANCD2):c.1278+5G>T
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val)
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=)
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg)
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile)
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr)
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg)
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn)
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp)
NM_001018115.3(FANCD2):c.4281+328G>T
NM_001018115.3(FANCD2):c.4281+398G>C
NM_001018115.3(FANCD2):c.4281+517A>C
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln)
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro)
NM_001018115.3(FANCD2):c.696-11A>G
NM_001022.3(RPS19):c.-139C>T rs886054467
NM_001022.3(RPS19):c.-151G>T rs886054466
NM_001022.3(RPS19):c.-339T>C rs886054465
NM_001022.3(RPS19):c.-74C>T rs886054468
NM_001022.4(RPS19):c.-1+14C>T rs886054469
NM_001022.4(RPS19):c.-26C>T
NM_001022.4(RPS19):c.172+5G>C rs886054471
NM_001022.4(RPS19):c.198C>T (p.Leu66=)
NM_001022.4(RPS19):c.357-5C>G
NM_001022.4(RPS19):c.71+12del rs886054470
NM_001022.4(RPS19):c.71+6T>A
NM_001029.5(RPS26):c.-130T>G
NM_001029.5(RPS26):c.-149G>T rs886049686
NM_001029.5(RPS26):c.-80C>T rs886049687
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764
NM_001113378.1(FANCI):c.*614T>G rs886051521
NM_001113378.1(FANCI):c.-23G>A rs886051506
NM_001113378.1(FANCI):c.-72C>G rs886051505
NM_001113378.1(FANCI):c.-90T>C rs559714713
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1113-10G>C rs756650711
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) rs772846275
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1512+3A>G rs760846523
NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala) rs149223439
NM_001113378.1(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) rs369268726
NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) rs200007022
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) rs151038616
NM_001113378.1(FANCI):c.1890+3A>G rs886051510
NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) rs140965103
NM_001113378.1(FANCI):c.1939T>C (p.Leu647=) rs150231327
NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg) rs138026584
NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) rs143105092
NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.1(FANCI):c.2169+12G>A rs886051512
NM_001113378.1(FANCI):c.2183A>G (p.Asp728Gly) rs752114490
NM_001113378.1(FANCI):c.2406T>C (p.Asp802=) rs147934193
NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) rs145762491
NM_001113378.1(FANCI):c.2507A>G (p.Asn836Ser) rs933284199
NM_001113378.1(FANCI):c.2519G>A (p.Arg840His) rs777483611
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824
NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) rs368915464
NM_001113378.1(FANCI):c.288+10C>T rs370505986
NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) rs886051507
NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met) rs191202700
NM_001113378.1(FANCI):c.3237G>A (p.Thr1079=) rs767103109
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069
NM_001113378.1(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513
NM_001113378.1(FANCI):c.3400A>G (p.Ile1134Val) rs377630829
NM_001113378.1(FANCI):c.3457C>G (p.Leu1153Val) rs368451326
NM_001113378.1(FANCI):c.3652-10A>G rs202231175
NM_001113378.1(FANCI):c.3660T>C (p.Ser1220=) rs116380142
NM_001113378.1(FANCI):c.3705C>T (p.Ala1235=) rs185771112
NM_001113378.1(FANCI):c.3721-15G>A rs552581027
NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734
NM_001113378.1(FANCI):c.3832C>T (p.His1278Tyr) rs776134519
NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.1(FANCI):c.528A>G (p.Gln176=) rs145939211
NM_001113378.1(FANCI):c.539T>C (p.Met180Thr) rs139834845
NM_001113378.1(FANCI):c.546-6C>T rs754929965
NM_001113378.1(FANCI):c.601A>G (p.Met201Val) rs774564150
NM_001113378.1(FANCI):c.606C>T (p.Phe202=) rs886051508
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.1(FANCI):c.824T>C (p.Ile275Thr) rs142906652
NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.1(FANCI):c.976-13A>T rs145864790
NM_001113378.2(FANCI):c.*662C>G
NM_001113378.2(FANCI):c.-10A>G
NM_001113378.2(FANCI):c.-56T>C
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=) rs201002833
NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn)
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656
NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro)
NM_001113378.2(FANCI):c.1890+10A>G
NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser)
NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)
NM_001113378.2(FANCI):c.2292-11G>C
NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)
NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)
NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)
NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg)
NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=)
NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)
NM_001113378.2(FANCI):c.3592-12C>T
NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)
NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=)
NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val)
NM_001113378.2(FANCI):c.3754A>G (p.Asn1252Asp)
NM_001113378.2(FANCI):c.3809A>T (p.Lys1270Met)
NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys)
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
NM_001113378.2(FANCI):c.701T>C (p.Ile234Thr)
NM_001114636.1(FANCL):c.*165A>G rs866675905
NM_001114636.1(FANCL):c.*296C>T rs201610023
NM_001114636.1(FANCL):c.-13C>T rs757714548
NM_001114636.1(FANCL):c.-26T>A
NM_001114636.1(FANCL):c.-34T>C
NM_001114636.1(FANCL):c.-35C>T
NM_001114636.1(FANCL):c.-39A>C rs41281511
NM_001114636.1(FANCL):c.-40C>A rs199661008
NM_001114636.1(FANCL):c.-44C>T rs780348127
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001114636.1(FANCL):c.203G>C (p.Arg68Pro) rs143819820
NM_001114636.1(FANCL):c.238C>G (p.Leu80Val) rs563513081
NM_001114636.1(FANCL):c.273+7A>C rs745366278
NM_001114636.1(FANCL):c.4G>T (p.Ala2Ser) rs144057264
NM_001114636.1(FANCL):c.534A>G (p.Thr178=) rs151181785
NM_001114636.1(FANCL):c.637G>A (p.Asp213Asn) rs199564543
NM_001114636.1(FANCL):c.791-21dup rs374236117
NM_001114636.1(FANCL):c.947dup (p.Tyr316Ter) rs529201454
NM_001114636.1(FANCL):c.984G>A (p.Val328=) rs200819615
NM_001130483.2(VRK2):c.41-31_41-28del rs748896681
NM_001142283.1(RPS24):c.-142A>G rs886047294
NM_001142283.1(RPS24):c.-47T>G
NM_002693.2(POLG):c.*122G>A rs886051517
NM_002693.2(POLG):c.*44G>C rs563185483
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.*63A>G rs552236933
NM_002693.2(POLG):c.3644-116T>C rs777372106
NM_002693.2(POLG):c.3644-16T>C rs536522307
NM_002693.2(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.2(POLG):c.3644-184T>C rs115758754
NM_002693.2(POLG):c.3644-72C>A rs1801377
NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) rs199751339
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_002693.3(POLG):c.*100G>A
NM_004629.1(FANCG):c.*101A>G rs751616369
NM_004629.1(FANCG):c.*250C>T rs535188841
NM_004629.1(FANCG):c.-182del rs886063899
NM_004629.1(FANCG):c.-1C>T rs587777946
NM_004629.1(FANCG):c.-311T>A rs886063900
NM_004629.1(FANCG):c.-348A>G rs376750755
NM_004629.1(FANCG):c.-488G>A rs752617227
NM_004629.1(FANCG):c.-491G>A rs886063901
NM_004629.1(FANCG):c.1252G>A (p.Glu418Lys) rs886063896
NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) rs17885240
NM_004629.1(FANCG):c.1545C>T (p.Ala515=) rs201422773
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.1652A>C (p.Tyr551Ser) rs1447816480
NM_004629.1(FANCG):c.1689G>C (p.Arg563=) rs138855718
NM_004629.1(FANCG):c.1808C>T (p.Ser603Phe) rs17878854
NM_004629.1(FANCG):c.20C>T (p.Ser7Phe) rs35984312
NM_004629.1(FANCG):c.366G>C (p.Trp122Cys) rs546023787
NM_004629.1(FANCG):c.458C>G (p.Ala153Gly) rs200074432
NM_004629.1(FANCG):c.478G>A (p.Ala160Thr) rs140534765
NM_004629.1(FANCG):c.682G>A (p.Ala228Thr) rs765095688
NM_004629.1(FANCG):c.880G>A (p.Gly294Arg) rs886063897
NM_004629.1(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_004629.2(FANCG):c.*141A>G
NM_004629.2(FANCG):c.*77C>T
NM_004629.2(FANCG):c.-276G>A
NM_004629.2(FANCG):c.-56G>A
NM_004629.2(FANCG):c.1002A>T (p.Leu334=)
NM_004629.2(FANCG):c.1027C>G (p.Gln343Glu)
NM_004629.2(FANCG):c.1152A>C (p.Pro384=)
NM_004629.2(FANCG):c.1155C>T (p.Pro385=)
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)
NM_004629.2(FANCG):c.1345C>T (p.Pro449Ser)
NM_004629.2(FANCG):c.1434-6C>T
NM_004629.2(FANCG):c.1448T>C (p.Leu483Pro)
NM_004629.2(FANCG):c.292C>A (p.Arg98=)
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp)
NM_004629.2(FANCG):c.794C>T (p.Ala265Val)
NM_004629.2(FANCG):c.944G>A (p.Ser315Asn)
NM_004629.2(FANCG):c.999C>T (p.Asp333=)
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*1674A>T rs536844021
NM_005373.2(MPL):c.*400C>T rs558390922
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*701_*705dup rs752218261
NM_005373.2(MPL):c.*705del rs752218261
NM_005373.2(MPL):c.*86C>T rs777930147
NM_005373.2(MPL):c.*871G>A rs540648773
NM_005373.2(MPL):c.*882C>T rs777894453
NM_005373.2(MPL):c.*924C>G rs886046354
NM_005373.2(MPL):c.*971G>A rs886046355
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
NM_005373.2(MPL):c.1238C>T (p.Pro413Leu) rs886046350
NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) rs886046351
NM_005373.2(MPL):c.1337G>A (p.Gly446Glu) rs561724539
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.655C>G (p.Gln219Glu) rs142737453
NM_005373.2(MPL):c.690+11C>T rs144769485
NM_005373.2(MPL):c.754T>C (p.Tyr252His) rs141311765
NM_005373.2(MPL):c.854-3T>C rs201514537
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_005373.3(MPL):c.*1021T>C
NM_005373.3(MPL):c.*170G>A
NM_005373.3(MPL):c.*183G>A
NM_005373.3(MPL):c.*204C>A
NM_005373.3(MPL):c.*255C>T
NM_005373.3(MPL):c.*326A>C
NM_005373.3(MPL):c.*578C>T
NM_005373.3(MPL):c.*612G>A
NM_005373.3(MPL):c.*725T>C
NM_005373.3(MPL):c.*901G>A
NM_005373.3(MPL):c.*914C>T
NM_005373.3(MPL):c.*970C>T
NM_005373.3(MPL):c.-13A>C
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr)
NM_005373.3(MPL):c.1527C>A (p.Gly509=)
NM_005373.3(MPL):c.442G>C (p.Gly148Arg)
NM_005373.3(MPL):c.49C>T (p.Pro17Ser)
NM_005373.3(MPL):c.611C>T (p.Ser204Phe)
NM_005373.3(MPL):c.641C>T (p.Pro214Leu)
NM_006947.4(SRP72):c.*1227_*1232del rs886059502
NM_006947.4(SRP72):c.*1241C>T
NM_006947.4(SRP72):c.*125GT[1] rs886059498
NM_006947.4(SRP72):c.*1385A>G
NM_006947.4(SRP72):c.*142A>G
NM_006947.4(SRP72):c.*1478C>A
NM_006947.4(SRP72):c.*1483A>G
NM_006947.4(SRP72):c.*1678C>T rs886059503
NM_006947.4(SRP72):c.*1764A>G rs192226722
NM_006947.4(SRP72):c.*1769T>G rs886059504
NM_006947.4(SRP72):c.*194G>A rs188713088
NM_006947.4(SRP72):c.*221A>G rs149250989
NM_006947.4(SRP72):c.*227G>A rs879875987
NM_006947.4(SRP72):c.*321A>G rs886059499
NM_006947.4(SRP72):c.*407T>C rs541665813
NM_006947.4(SRP72):c.*473G>A
NM_006947.4(SRP72):c.*505C>T
NM_006947.4(SRP72):c.*606A>T rs868279024
NM_006947.4(SRP72):c.*606AT[10] rs201131530
NM_006947.4(SRP72):c.*622G>A
NM_006947.4(SRP72):c.*624A>G
NM_006947.4(SRP72):c.*633T>C
NM_006947.4(SRP72):c.*635C>T rs200981113
NM_006947.4(SRP72):c.*637TA[11] rs35852754
NM_006947.4(SRP72):c.*637TA[7] rs35852754
NM_006947.4(SRP72):c.*637TA[9] rs35852754
NM_006947.4(SRP72):c.*839T>C rs757066668
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys)
NM_006947.4(SRP72):c.1938C>G (p.His646Gln)
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu)
NM_006947.4(SRP72):c.574C>G (p.Leu192Val)
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly)
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu) rs763655714
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro)
NM_018062.4(FANCL):c.*128G>A
NM_018062.4(FANCL):c.*165A>C
NM_018062.4(FANCL):c.*281C>G
NM_018062.4(FANCL):c.*434A>G
NM_018062.4(FANCL):c.*515A>C
NM_018062.4(FANCL):c.*89C>T
NM_018062.4(FANCL):c.378T>A (p.Leu126=)
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly)
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)
NM_018062.4(FANCL):c.5C>T (p.Ala2Val)
NM_018062.4(FANCL):c.677G>A (p.Arg226His)
NM_018062.4(FANCL):c.795T>C (p.Ile265=)
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)
NM_018193.3(FANCI):c.3636+17_3636+19del rs374324314
NM_018193.3(FANCI):c.3745-84_3745-81dup rs1444126104
NM_018193.3(FANCI):c.669+17_669+18del rs751881445
NM_020937.4(FANCM):c.*100_*103TTTA[1] rs886050504
NM_020937.4(FANCM):c.*140_*144del rs886050505
NM_020937.4(FANCM):c.*254dup rs112491585
NM_020937.4(FANCM):c.*368C>G rs886050507
NM_020937.4(FANCM):c.*375A>G rs749001988
NM_020937.4(FANCM):c.*546C>G rs886050508
NM_020937.4(FANCM):c.*756G>A rs886050509
NM_020937.4(FANCM):c.*797T>C rs886050510
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546
NM_020937.4(FANCM):c.1394A>G (p.Asn465Ser) rs747572587
NM_020937.4(FANCM):c.1539A>G (p.Ser513=) rs886050499
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr) rs147805461
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro) rs777379515
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser) rs61753893
NM_020937.4(FANCM):c.2160+10A>G rs767254996
NM_020937.4(FANCM):c.2240A>G (p.His747Arg) rs181827583
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala) rs149856496
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala) rs144771929
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668
NM_020937.4(FANCM):c.2734A>G (p.Ile912Val) rs45568842
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=) rs199507375
NM_020937.4(FANCM):c.3327T>C (p.Asn1109=) rs886050500
NM_020937.4(FANCM):c.3758A>T (p.Asn1253Ile) rs45604036
NM_020937.4(FANCM):c.390C>T (p.Arg130=) rs147395934
NM_020937.4(FANCM):c.3998A>C (p.Gln1333Pro) rs143681767
NM_020937.4(FANCM):c.4047A>G (p.Ser1349=) rs772889740
NM_020937.4(FANCM):c.4102G>A (p.Val1368Ile) rs886050501
NM_020937.4(FANCM):c.4222+7T>G rs148675704
NM_020937.4(FANCM):c.4261G>A (p.Glu1421Lys) rs886050502
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680
NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp) rs375640203
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His) rs201803784
NM_020937.4(FANCM):c.4878T>C (p.Asp1626=) rs150389713
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys) rs186197572
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr) rs369365858
NM_020937.4(FANCM):c.508+5C>G rs886050497
NM_020937.4(FANCM):c.5097A>G (p.Lys1699=) rs886050503
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) rs146897650
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236
NM_020937.4(FANCM):c.555A>G (p.Arg185=) rs886050498
NM_020937.4(FANCM):c.5824G>A (p.Ala1942Thr) rs759078220
NM_020937.4(FANCM):c.5887A>G (p.Thr1963Ala) rs757062269
NM_020937.4(FANCM):c.6138T>G (p.Ser2046=) rs746677351
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala) rs143006771
NM_020937.4(FANCM):c.92G>T (p.Arg31Leu) rs886050496
NM_021922.2(FANCE):c.*322C>T rs559999264
NM_021922.2(FANCE):c.*401G>C rs886061333
NM_021922.2(FANCE):c.*729A>G rs886061334
NM_021922.2(FANCE):c.-100C>T rs374493565
NM_021922.2(FANCE):c.-105C>T rs886061326
NM_021922.2(FANCE):c.-132A>G rs886061325
NM_021922.2(FANCE):c.-182G>A rs886061324
NM_021922.2(FANCE):c.-19G>C rs13215706
NM_021922.2(FANCE):c.1007T>C (p.Leu336Pro) rs886061330
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.1095A>C (p.Arg365Ser) rs141268133
NM_021922.2(FANCE):c.1116C>T (p.Ile372=) rs143234424
NM_021922.2(FANCE):c.1290G>T (p.Glu430Asp) rs886061331
NM_021922.2(FANCE):c.1310T>C (p.Met437Thr) rs142903218
NM_021922.2(FANCE):c.1378C>T (p.Arg460Trp) rs200535245
NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg) rs200083899
NM_021922.2(FANCE):c.1510-11C>T rs189384185
NM_021922.2(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.2(FANCE):c.206G>A (p.Arg69Gln) rs758238449
NM_021922.2(FANCE):c.216G>T (p.Pro72=) rs886061328
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.274C>T (p.Arg92Trp) rs375195621
NM_021922.2(FANCE):c.31G>A (p.Ala11Thr) rs753304968
NM_021922.2(FANCE):c.397C>T (p.Leu133Phe) rs759124595
NM_021922.2(FANCE):c.400C>T (p.Arg134Cys) rs181761362
NM_021922.2(FANCE):c.480C>A (p.Cys160Ter) rs45509302
NM_021922.2(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929
NM_021922.2(FANCE):c.552A>C (p.Pro184=) rs138182352
NM_021922.2(FANCE):c.696G>A (p.Glu232=) rs147356927
NM_021922.2(FANCE):c.862C>T (p.Leu288Phe) rs886061329
NM_021922.2(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.2(FANCE):c.977T>G (p.Leu326Trp) rs779336261
NM_021922.3(FANCE):c.*213T>A
NM_021922.3(FANCE):c.*225T>C
NM_021922.3(FANCE):c.*63C>T
NM_021922.3(FANCE):c.-126T>A
NM_021922.3(FANCE):c.-162G>C
NM_021922.3(FANCE):c.-167C>T
NM_021922.3(FANCE):c.-197C>T
NM_021922.3(FANCE):c.-32A>T
NM_021922.3(FANCE):c.1113+6T>C
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
NM_021922.3(FANCE):c.1317-11C>T
NM_021922.3(FANCE):c.387A>T (p.Pro129=)
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp)
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
NM_022725.3(FANCF):c.*1094A>G rs544116147
NM_022725.3(FANCF):c.*1119T>A rs558392453
NM_022725.3(FANCF):c.*1190C>A rs750376328
NM_022725.3(FANCF):c.*1338dup rs45554234
NM_022725.3(FANCF):c.*1509G>C rs886048153
NM_022725.3(FANCF):c.*1525T>G rs886048152
NM_022725.3(FANCF):c.*1535T>A rs886048151
NM_022725.3(FANCF):c.*1630G>A rs559054290
NM_022725.3(FANCF):c.*1632G>C rs886048150
NM_022725.3(FANCF):c.*1696G>A rs886048149
NM_022725.3(FANCF):c.*1879T>C rs45553340
NM_022725.3(FANCF):c.*2071A>G rs886048148
NM_022725.3(FANCF):c.*287C>T rs886048156
NM_022725.3(FANCF):c.*499T>C rs566136504
NM_022725.3(FANCF):c.*565A>G rs886048155
NM_022725.3(FANCF):c.*597G>A rs373336301
NM_022725.3(FANCF):c.*624G>C rs768178918
NM_022725.3(FANCF):c.*655_*659delATTAA rs886048154
NM_022725.3(FANCF):c.*695dup rs796646840
NM_022725.3(FANCF):c.*708C>T rs61889392
NM_022725.3(FANCF):c.*7C>G rs770964562
NM_022725.3(FANCF):c.-21A>G rs751857151
NM_022725.3(FANCF):c.-31T>C rs202069513
NM_022725.3(FANCF):c.1006G>A (p.Asp336Asn) rs886048157
NM_022725.3(FANCF):c.101C>T (p.Ala34Val) rs780228540
NM_022725.3(FANCF):c.1087C>T (p.Gln363Ter) rs201285915
NM_022725.3(FANCF):c.210C>T (p.Gly70=) rs769740744
NM_022725.3(FANCF):c.241G>T (p.Ala81Ser) rs145057187
NM_022725.3(FANCF):c.261_263del (p.His88del) rs886048158
NM_022725.3(FANCF):c.2T>C (p.Met1Thr) rs745495865
NM_022725.3(FANCF):c.350C>T (p.Pro117Leu) rs374572943
NM_022725.3(FANCF):c.385C>G (p.Leu129Val) rs61753271
NM_022725.3(FANCF):c.436C>G (p.Leu146Val) rs779428484
NM_022725.3(FANCF):c.465A>T (p.Pro155=) rs201215734
NM_022725.3(FANCF):c.547G>C (p.Glu183Gln) rs774728053
NM_022725.3(FANCF):c.633G>T (p.Gln211His) rs146975768
NM_022725.3(FANCF):c.860A>G (p.Tyr287Cys) rs750623273
NM_022725.4(FANCF):c.*1420A>G
NM_022725.4(FANCF):c.*1440A>G
NM_022725.4(FANCF):c.*1512A>G
NM_022725.4(FANCF):c.*1884T>C
NM_022725.4(FANCF):c.*2074A>G
NM_022725.4(FANCF):c.*286A>G
NM_022725.4(FANCF):c.*328C>T
NM_022725.4(FANCF):c.*336C>A
NM_022725.4(FANCF):c.*412T>A
NM_022725.4(FANCF):c.*539T>A
NM_022725.4(FANCF):c.*555T>C
NM_022725.4(FANCF):c.*782A>G
NM_022725.4(FANCF):c.*857G>A
NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys)
NM_022725.4(FANCF):c.1064G>A (p.Arg355His)
NM_022725.4(FANCF):c.279C>T (p.Leu93=) rs199578614
NM_022725.4(FANCF):c.680A>G (p.His227Arg)
NM_024675.3(PALB2):c.-149G>A rs886051832
NM_024675.3(PALB2):c.-158G>C rs138200248
NM_024675.3(PALB2):c.113C>G (p.Ala38Gly) rs371875379
NM_024675.3(PALB2):c.12T>C (p.Pro4=) rs567706422
NM_024675.3(PALB2):c.1364A>G (p.Asn455Ser) rs587781824
NM_024675.3(PALB2):c.1415A>G (p.Gln472Arg) rs867817029
NM_024675.3(PALB2):c.1599T>C (p.Thr533=) rs786201088
NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu) rs142103232
NM_024675.3(PALB2):c.1684+11A>G rs201368043
NM_024675.3(PALB2):c.1767G>A (p.Thr589=) rs769849072
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.2067G>A (p.Ser689=) rs371149159
NM_024675.3(PALB2):c.2100A>T (p.Ser700=) rs757145884
NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524
NM_024675.3(PALB2):c.2277A>G (p.Gln759=) rs786202524
NM_024675.3(PALB2):c.2507_2509del (p.Val836del) rs587782697
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2586+10A>G rs373321719
NM_024675.3(PALB2):c.2667T>A (p.Thr889=) rs876659224
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_024675.3(PALB2):c.2849C>T (p.Ser950Phe) rs876659160
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2896A>G (p.Ile966Val) rs786204248
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2996+14T>G rs1407045774
NM_024675.3(PALB2):c.2T>C (p.Met1Thr) rs756519825
NM_024675.3(PALB2):c.3073G>A (p.Ala1025Thr) rs746872839
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3394T>C (p.Leu1132=) rs1282821765
NM_024675.3(PALB2):c.3494C>T (p.Ser1165Leu) rs773829275
NM_024675.3(PALB2):c.495C>T (p.Gly165=) rs200937538
NM_024675.3(PALB2):c.66A>G (p.Ala22=) rs1057520982
NM_024675.3(PALB2):c.718C>A (p.Pro240Thr) rs757567654
NM_024675.3(PALB2):c.733G>C (p.Ala245Pro) rs886051831
NM_024675.3(PALB2):c.828C>T (p.His276=) rs911713488
NM_024675.3(PALB2):c.897T>C (p.Ser299=) rs180177095
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_024675.4(PALB2):c.*232G>T rs180748355
NM_024675.4(PALB2):c.-108C>A
NM_024675.4(PALB2):c.-37C>T
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.4(PALB2):c.1611G>A (p.Ser537=) rs730881874
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)
NM_024675.4(PALB2):c.388C>T (p.His130Tyr) rs1555461809
NM_032043.2(BRIP1):c.*1048_*1050del rs564290244
NM_032043.2(BRIP1):c.*1257_*1258delAG rs886053209
NM_032043.2(BRIP1):c.*128A>G rs150444311
NM_032043.2(BRIP1):c.*1381G>T rs886053208
NM_032043.2(BRIP1):c.*1393G>T rs754698039
NM_032043.2(BRIP1):c.*1868G>T rs184666432
NM_032043.2(BRIP1):c.*2337A>T rs373664066
NM_032043.2(BRIP1):c.*2522A>G rs886053207
NM_032043.2(BRIP1):c.*2667C>T rs373156872
NM_032043.2(BRIP1):c.*2668G>A rs886053206
NM_032043.2(BRIP1):c.*2691C>G rs886053205
NM_032043.2(BRIP1):c.*2692A>G rs886053204
NM_032043.2(BRIP1):c.*2715C>T rs886053203
NM_032043.2(BRIP1):c.*2811_*2815dup rs768910110
NM_032043.2(BRIP1):c.*2812_*2815dup rs768910110
NM_032043.2(BRIP1):c.*2815_*2816insAAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.2(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.2(BRIP1):c.*288A>G rs886053213
NM_032043.2(BRIP1):c.*2926T>A rs886053201
NM_032043.2(BRIP1):c.*3145A>G rs886053200
NM_032043.2(BRIP1):c.*3188G>A rs369850537
NM_032043.2(BRIP1):c.*3307T>C rs886053199
NM_032043.2(BRIP1):c.*339G>C rs886053212
NM_032043.2(BRIP1):c.*3489T>C rs140891191
NM_032043.2(BRIP1):c.*3617T>C rs886053198
NM_032043.2(BRIP1):c.*380C>T rs556729826
NM_032043.2(BRIP1):c.*3821A>G rs886053197
NM_032043.2(BRIP1):c.*3918C>T rs886053196
NM_032043.2(BRIP1):c.*3924T>G rs886053195
NM_032043.2(BRIP1):c.*396_*397delCT rs546666211
NM_032043.2(BRIP1):c.*421C>T rs886053211
NM_032043.2(BRIP1):c.*900C>A rs886053210
NM_032043.2(BRIP1):c.-229C>G rs886053217
NM_032043.2(BRIP1):c.-237dup rs112243287
NM_032043.2(BRIP1):c.-30-3T>C rs370728413
NM_032043.2(BRIP1):c.1000G>A (p.Ala334Thr) rs535414791
NM_032043.2(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609
NM_032043.2(BRIP1):c.1109A>G (p.Asn370Ser) rs777511615
NM_032043.2(BRIP1):c.1140+11G>A rs369153270
NM_032043.2(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731
NM_032043.2(BRIP1):c.1652C>T (p.Ala551Val) rs375246789
NM_032043.2(BRIP1):c.1774T>G (p.Trp592Gly) rs587780231
NM_032043.2(BRIP1):c.2285G>A (p.Arg762His) rs200960251
NM_032043.2(BRIP1):c.2301G>C (p.Glu767Asp) rs369434185
NM_032043.2(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.2(BRIP1):c.2776G>A (p.Ala926Thr) rs1003917080
NM_032043.2(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092
NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) rs374335608
NM_032043.2(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.2(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.2(BRIP1):c.3093T>C (p.Ser1031=) rs937490699
NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094
NM_032043.2(BRIP1):c.3251C>G (p.Thr1084Ser) rs876660768
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.3567T>C (p.Asp1189=) rs764848326
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.54T>C (p.Pro18=) rs886053216
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.736A>G (p.Ile246Val) rs376893571
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569
NM_032043.2(BRIP1):c.820A>G (p.Thr274Ala) rs62620988
NM_032043.2(BRIP1):c.82A>G (p.Met28Val) rs1330147176
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032043.3(BRIP1):c.*1239C>A
NM_032043.3(BRIP1):c.*132G>A
NM_032043.3(BRIP1):c.*1330C>T
NM_032043.3(BRIP1):c.*1409T>A
NM_032043.3(BRIP1):c.*1792G>A
NM_032043.3(BRIP1):c.*1801T>G
NM_032043.3(BRIP1):c.*1908T>C
NM_032043.3(BRIP1):c.*1930G>C
NM_032043.3(BRIP1):c.*2070G>A
NM_032043.3(BRIP1):c.*2656A>G
NM_032043.3(BRIP1):c.*2672G>A
NM_032043.3(BRIP1):c.*2744A>G
NM_032043.3(BRIP1):c.*2756G>A
NM_032043.3(BRIP1):c.*2812A>G
NM_032043.3(BRIP1):c.*2868A>G
NM_032043.3(BRIP1):c.*2999T>C
NM_032043.3(BRIP1):c.*3000C>G
NM_032043.3(BRIP1):c.*3093A>T
NM_032043.3(BRIP1):c.*3465A>T
NM_032043.3(BRIP1):c.*3580T>A
NM_032043.3(BRIP1):c.*3635T>C
NM_032043.3(BRIP1):c.*3827T>C
NM_032043.3(BRIP1):c.*4040T>A
NM_032043.3(BRIP1):c.*4053T>C
NM_032043.3(BRIP1):c.*477A>G
NM_032043.3(BRIP1):c.*524A>G
NM_032043.3(BRIP1):c.*612A>G
NM_032043.3(BRIP1):c.*659G>A
NM_032043.3(BRIP1):c.*684C>A
NM_032043.3(BRIP1):c.-232G>A
NM_032043.3(BRIP1):c.-38C>T
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.3(BRIP1):c.3203C>T (p.Pro1068Leu)
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866
NM_032444.4(SLX4):c.*102G>A
NM_032444.4(SLX4):c.*1047G>A
NM_032444.4(SLX4):c.*1150G>C rs886051972
NM_032444.4(SLX4):c.*168T>G rs886051975
NM_032444.4(SLX4):c.*298_*301del rs566716185
NM_032444.4(SLX4):c.*311G>A rs749668095
NM_032444.4(SLX4):c.*374C>T rs369843531
NM_032444.4(SLX4):c.*469A>T rs868278470
NM_032444.4(SLX4):c.*493G>T
NM_032444.4(SLX4):c.*54A>C
NM_032444.4(SLX4):c.*578G>A
NM_032444.4(SLX4):c.*652A>G rs546917026
NM_032444.4(SLX4):c.*73G>A
NM_032444.4(SLX4):c.*811G>C rs371879504
NM_032444.4(SLX4):c.*82C>T
NM_032444.4(SLX4):c.*871A>G rs886051974
NM_032444.4(SLX4):c.*882C>T
NM_032444.4(SLX4):c.*887C>T
NM_032444.4(SLX4):c.*944A>G
NM_032444.4(SLX4):c.*957C>T rs886051973
NM_032444.4(SLX4):c.*98A>G rs551538592
NM_032444.4(SLX4):c.-112C>A rs779687936
NM_032444.4(SLX4):c.-143_-140del rs779611690
NM_032444.4(SLX4):c.-19G>A rs113845637
NM_032444.4(SLX4):c.-205G>A
NM_032444.4(SLX4):c.-210G>A rs747849749
NM_032444.4(SLX4):c.-211dup rs149138178
NM_032444.4(SLX4):c.-21G>C rs200717103
NM_032444.4(SLX4):c.-271G>A rs149773885
NM_032444.4(SLX4):c.-305C>T rs886051983
NM_032444.4(SLX4):c.-395C>T rs886051984
NM_032444.4(SLX4):c.-398G>A
NM_032444.4(SLX4):c.-399C>T
NM_032444.4(SLX4):c.-416G>A rs528320603
NM_032444.4(SLX4):c.-41A>G
NM_032444.4(SLX4):c.-46G>A rs113023461
NM_032444.4(SLX4):c.-580T>C rs886051985
NM_032444.4(SLX4):c.-602-6C>G rs886051986
NM_032444.4(SLX4):c.-603+8G>C rs886051987
NM_032444.4(SLX4):c.-614G>C
NM_032444.4(SLX4):c.-616C>T rs886051988
NM_032444.4(SLX4):c.-631G>A
NM_032444.4(SLX4):c.1110T>C (p.Ala370=) rs886051981
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln) rs372956623
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe) rs141167501
NM_032444.4(SLX4):c.1163+5G>A
NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln)
NM_032444.4(SLX4):c.1193G>C (p.Arg398Pro)
NM_032444.4(SLX4):c.1324A>C (p.Arg442=) rs886051980
NM_032444.4(SLX4):c.1325G>C (p.Arg442Thr) rs886051979
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845
NM_032444.4(SLX4):c.13G>A (p.Val5Met) rs750091754
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589
NM_032444.4(SLX4):c.151T>C (p.Phe51Leu)
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys) rs762550449
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn) rs752899329
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr)
NM_032444.4(SLX4):c.1707G>A (p.Pro569=) rs141687678
NM_032444.4(SLX4):c.1740C>T (p.Ser580=) rs200354014
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr)
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser) rs144454312
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg)
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val) rs1056085
NM_032444.4(SLX4):c.1911G>T (p.Ser637=) rs200013924
NM_032444.4(SLX4):c.192A>G (p.Lys64=) rs756720856
NM_032444.4(SLX4):c.1941C>T (p.Pro647=) rs540288743
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu) rs372150541
NM_032444.4(SLX4):c.2006G>A (p.Arg669His) rs200807331
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser) rs571330689
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile)
NM_032444.4(SLX4):c.2125G>A (p.Val709Met) rs151026877
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu)
NM_032444.4(SLX4):c.2187A>G (p.Val729=)
NM_032444.4(SLX4):c.2235C>T (p.Thr745=) rs75184268
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888
NM_032444.4(SLX4):c.2328-11T>C
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys)
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp)
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp)
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter) rs200715208
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472
NM_032444.4(SLX4):c.2688G>A (p.Val896=)
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile) rs781323142
NM_032444.4(SLX4):c.2882C>T (p.Pro961Leu) rs886051978
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784
NM_032444.4(SLX4):c.2991G>A (p.Pro997=) rs770736311
NM_032444.4(SLX4):c.3027C>T (p.Gly1009=)
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp)
NM_032444.4(SLX4):c.3087A>T (p.Pro1029=) rs746254787
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser) rs201359490
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=)
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp) rs144273492
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro) rs201582780
NM_032444.4(SLX4):c.339T>C (p.Ser113=) rs144326379
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr)
NM_032444.4(SLX4):c.360T>C (p.Thr120=) rs886051982
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His) rs139544666
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys) rs771835799
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg) rs754996241
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met)
NM_032444.4(SLX4):c.3912C>T (p.Val1304=) rs140254478
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr) rs763524714
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu)
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly) rs140051968
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro)
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu) rs770241338
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.426T>A (p.Gly142=) rs377500336
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=) rs373300793
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu)
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser) rs372321470
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=) rs139254595
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg) rs775915651
NM_032444.4(SLX4):c.4580C>A (p.Pro1527Gln)
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu) rs149362820
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile) rs147315419
NM_032444.4(SLX4):c.4650_4652GAA[2] (p.Lys1552del) rs760517738
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser)
NM_032444.4(SLX4):c.4740-6C>T rs377066518
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys) rs560866356
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=) rs370775954
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val)
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp) rs886051977
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe)
NM_032444.4(SLX4):c.489T>G (p.Gly163=) rs201211891
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg) rs368102037
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg) rs200507644
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter) rs1291935778
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile) rs377544881
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu) rs530123827
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg) rs765960272
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu)
NM_032444.4(SLX4):c.5153+6C>A rs754209356
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val)
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro) rs199838670
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=)
NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser)
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys)
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His)
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp) rs758789462
NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met) rs886051976
NM_032444.4(SLX4):c.561G>T (p.Gln187His) rs778738306
NM_032444.4(SLX4):c.630A>G (p.Leu210=) rs746155183
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp)
NM_032444.4(SLX4):c.738A>G (p.Gln246=) rs905819290
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys) rs148547201
NM_032444.4(SLX4):c.752C>T (p.Ala251Val) rs201117707
NM_032444.4(SLX4):c.786A>G (p.Pro262=)
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys) rs144832924
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg) rs778643553
NM_032444.4(SLX4):c.996G>T (p.Gln332His) rs377201471
NM_033022.4(RPS24):c.280-11_280-10del rs756756010
NM_033022.4(RPS24):c.3+7C>T rs759947869
NM_033022.4(RPS24):c.4-7T>C
NM_033084.5(FANCD2):c.-33-13G>A rs113338938
NM_033084.5(FANCD2):c.1116C>T (p.Ala372=) rs370078641
NM_033084.5(FANCD2):c.1134+8T>G rs373232961
NM_033084.5(FANCD2):c.1232G>T (p.Cys411Phe) rs886057663
NM_033084.5(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218
NM_033084.5(FANCD2):c.1400C>T (p.Thr467Met) rs760246372
NM_033084.5(FANCD2):c.1440T>C (p.His480=) rs375412395
NM_033084.5(FANCD2):c.1545+9T>C rs769459614
NM_033084.5(FANCD2):c.1546-8T>C rs530202330
NM_033084.5(FANCD2):c.1656+14T>A rs200473919
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.5(FANCD2):c.182C>T (p.Thr61Met) rs35110529
NM_033084.5(FANCD2):c.1874C>T (p.Pro625Leu) rs886057690
NM_033084.5(FANCD2):c.1948-7C>T rs757782326
NM_033084.5(FANCD2):c.2181G>A (p.Pro727=) rs560600678
NM_033084.5(FANCD2):c.2418T>G (p.Pro806=) rs61751577
NM_033084.5(FANCD2):c.2480A>C (p.Glu827Ala) rs145099733
NM_033084.5(FANCD2):c.2581A>G (p.Lys861Glu) rs886057691
NM_033084.5(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578
NM_033084.5(FANCD2):c.2826G>A (p.Thr942=) rs200118565
NM_033084.5(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_033084.5(FANCD2):c.2872G>A (p.Val958Met) rs372574627
NM_033084.5(FANCD2):c.28T>C (p.Ser10Pro) rs150075366
NM_033084.5(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638
NM_033084.5(FANCD2):c.33G>A (p.Glu11=) rs147426418
NM_033084.5(FANCD2):c.382G>T (p.Gly128Cys) rs772201181
NM_033084.5(FANCD2):c.491+10G>A rs17032279
NM_033084.5(FANCD2):c.672C>T (p.His224=) rs371928644
NM_033084.5(FANCD2):c.78A>C (p.Gln26His) rs45510294
NM_033084.5(FANCD2):c.864C>T (p.Ser288=) rs780547790
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253
NM_058216.3(RAD51C):c.145+12T>G rs377297129
NM_058216.3(RAD51C):c.404+13G>A rs547506164
NM_058216.3(RAD51C):c.404+7T>C rs1350153132
NM_058216.3(RAD51C):c.435A>G (p.Pro145=) rs555235745
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val) rs531838785
NM_058216.3(RAD51C):c.721G>A (p.Val241Met) rs184033132
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.3(RAD51C):c.822T>G (p.Asn274Lys)
NM_058216.3(RAD51C):c.87T>C (p.Ser29=) rs786203249
NM_173472.2(FANCD2OS):c.*126T>A rs759516610
NM_173472.2(FANCD2OS):c.43+4560T>C rs886057697
NM_173472.2(FANCD2OS):c.43+4786G>A rs548255173
NM_173472.2(FANCD2OS):c.43+4821G>T rs550613588
NM_173472.2(FANCD2OS):c.43+4840G>A rs540249462
NM_173472.2(FANCD2OS):c.43+4849C>T rs886057696
NM_173472.2(FANCD2OS):c.43+4858T>C rs886057695
NM_173472.2(FANCD2OS):c.43+5028T>C rs770674504
NM_173472.2(FANCD2OS):c.43+5126G>A rs886057694
NM_173472.2(FANCD2OS):c.43+5204G>A rs370459744
NM_173472.2(FANCD2OS):c.43+5429_43+5434del rs766605179
NM_173472.2(FANCD2OS):c.43+5483A>G rs763801603
NM_173472.2(FANCD2OS):c.43+5491G>A rs755767180
NM_173472.2(FANCD2OS):c.44-10660T>C rs886057692
NM_173472.2(FANCD2OS):c.44-5618G>A rs566518051
NM_173472.2(FANCD2OS):c.44-7009G>C rs745765337
NM_173472.2(FANCD2OS):c.44-7381A>T rs1168183069
NM_173472.2(FANCD2OS):c.44-7382T>C rs367552677
NM_173472.2(FANCD2OS):c.44-8784C>T rs121917786
NM_173472.2(FANCD2OS):c.44-8811G>A rs764775864
NM_198253.2(TERT):c.2130+10G>A rs373879259
NM_198253.2(TERT):c.2391C>G (p.Ser797=) rs377216965
NM_198253.2(TERT):c.2654+10G>A rs375473823
NM_198253.2(TERT):c.2781A>G (p.Leu927=) rs370292237
NM_198253.3(TERT):c.*104C>T rs886059830
NM_198253.3(TERT):c.*230T>C rs751808151
NM_198253.3(TERT):c.*237C>T
NM_198253.3(TERT):c.*308A>G
NM_198253.3(TERT):c.*339T>C
NM_198253.3(TERT):c.*64G>A
NM_198253.3(TERT):c.*83G>A
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.1401C>T (p.Ala467=)
NM_198253.3(TERT):c.189G>A (p.Arg63=) rs1554043134
NM_198253.3(TERT):c.1939A>C (p.Arg647=) rs144821759
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala)
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240
NM_198253.3(TERT):c.2127C>G (p.Val709=) rs765264494
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619
NM_198253.3(TERT):c.2523C>G (p.Leu841=) rs1554039733
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830
NM_198253.3(TERT):c.2626C>A (p.His876Asn)
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401
NM_198253.3(TERT):c.3101G>A (p.Arg1034His)
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453
NM_198253.3(TERT):c.3333G>A (p.Thr1111=) rs200102606
NM_198253.3(TERT):c.483G>C (p.Leu161=)
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.3(TERT):c.696G>T (p.Leu232=)
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906
NM_198253.3(TERT):c.875C>G (p.Thr292Arg)
NM_198253.3(TERT):c.880C>T (p.His294Tyr) rs886059906
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343
NM_198253.3(TERT):c.908A>T (p.His303Leu)
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764

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