ClinVar Miner

List of variants reported as uncertain significance for anemia by Baylor Genetics

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 552
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val) rs141719745 0.00148
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) rs140141633 0.00132
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00117
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro) rs147223483 0.00101
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_001142285.2(RPS24):c.811A>C (p.Ile271Leu) rs74653472 0.00078
NM_001083116.3(PRF1):c.1229G>A (p.Arg410Gln) rs150558419 0.00077
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734 0.00075
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg) rs141141752 0.00052
NM_001355436.2(SPTB):c.774G>A (p.Thr258=) rs12435635 0.00051
NM_138477.4(CDAN1):c.982G>A (p.Val328Ile) rs144448301 0.00050
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His) rs140452766 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_032444.4(SLX4):c.1584C>G (p.Ser528Arg) rs139865448 0.00045
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369 0.00039
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) rs138484365 0.00034
NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg) rs371901013 0.00033
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser) rs143599352 0.00026
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln) rs758238449 0.00026
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser) rs543791953 0.00022
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val) rs370902375 0.00020
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_001113378.2(FANCI):c.1264G>A (p.Gly422Arg) rs146040966 0.00019
NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr) rs112387610 0.00019
NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg) rs763683559 0.00019
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_032444.4(SLX4):c.1499C>T (p.Thr500Met) rs377440877 0.00019
NM_032444.4(SLX4):c.5264C>T (p.Ala1755Val) rs372921011 0.00019
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe) rs952309844 0.00017
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113 0.00016
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys) rs371020401 0.00014
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val) rs200178217 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_018062.4(FANCL):c.-3G>C rs766104531 0.00009
NM_022725.4(FANCF):c.911G>C (p.Trp304Ser) rs372140217 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 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_020207.7(ERCC6L2):c.1772A>G (p.Asn591Ser) rs781374501 0.00007
NM_032444.4(SLX4):c.3775G>A (p.Ala1259Thr) rs370663234 0.00007
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_001011.4(RPS7):c.-3G>A rs751847851 0.00006
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys) rs143701205 0.00006
NM_001083116.3(PRF1):c.1636C>G (p.Pro546Ala) rs550799905 0.00006
NM_001142285.2(RPS24):c.799C>G (p.Pro267Ala) rs931570987 0.00006
NM_001374504.1(TMPRSS6):c.1085C>T (p.Thr362Met) rs144261072 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.257G>A (p.Arg86His) rs187435008 0.00006
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836 0.00006
NM_032444.4(SLX4):c.996G>T (p.Gln332His) rs377201471 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_001083116.3(PRF1):c.796A>G (p.Ile266Val) rs200824018 0.00005
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939 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_004629.2(FANCG):c.769C>T (p.Arg257Cys) rs759314410 0.00005
NM_032444.4(SLX4):c.1379G>A (p.Arg460His) rs369994733 0.00005
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys) rs139757085 0.00005
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys) rs140529288 0.00005
NM_032444.4(SLX4):c.5383C>T (p.Arg1795Cys) rs762619200 0.00005
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001083116.3(PRF1):c.97C>T (p.Arg33Cys) rs777782785 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.506G>A (p.Arg169His) rs776134250 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.803C>T (p.Thr268Met) rs535602436 0.00004
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 0.00004
NM_005431.2(XRCC2):c.271C>T (p.Arg91Trp) rs730882043 0.00004
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg) rs201528578 0.00004
NM_022725.4(FANCF):c.559A>G (p.Arg187Gly) rs540547787 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn) rs778309339 0.00004
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg) rs1481598103 0.00003
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) rs1254151716 0.00003
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724 0.00003
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) rs755445102 0.00003
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr) rs186371605 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.509C>T (p.Pro170Leu) rs587782411 0.00003
NM_002485.5(NBN):c.613A>G (p.Ile205Val) rs730881845 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_004629.2(FANCG):c.1156C>G (p.Pro386Ala) rs375757497 0.00003
NM_004629.2(FANCG):c.730G>A (p.Val244Met) rs746248064 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn) rs149470704 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982 0.00002
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe) rs758866109 0.00002
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890 0.00002
NM_001011.4(RPS7):c.35A>G (p.Asn12Ser) rs779623517 0.00002
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu) rs760823688 0.00002
NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser) rs781605384 0.00002
NM_001018115.3(FANCD2):c.605T>C (p.Ile202Thr) rs751126921 0.00002
NM_002049.4(GATA1):c.419G>A (p.Arg140Gln) rs997764249 0.00002
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn) rs781409951 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.133C>G (p.His45Asp) rs773865323 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) rs558023830 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.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln) rs753270166 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 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_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00002
NM_018062.4(FANCL):c.500T>C (p.Val167Ala) rs1338440311 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_032444.4(SLX4):c.1991C>T (p.Pro664Leu) rs369805557 0.00002
NM_032444.4(SLX4):c.2157G>T (p.Gln719His) rs768316000 0.00002
NM_032444.4(SLX4):c.796G>A (p.Ala266Thr) rs543071212 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_138477.4(CDAN1):c.3043C>T (p.Arg1015Cys) rs764025922 0.00002
NM_000037.4(ANK1):c.1066G>A (p.Val356Ile) rs199832220 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys) rs1012809189 0.00001
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807 0.00001
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg) rs1437529209 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu) rs777313447 0.00001
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His) rs1041491550 0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000136.3(FANCC):c.583G>C (p.Asp195His) rs774140528 0.00001
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) rs864622191 0.00001
NM_000175.5(GPI):c.1498G>A (p.Val500Ile) rs552424309 0.00001
NM_000175.5(GPI):c.640A>G (p.Thr214Ala) rs536683131 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys) rs1172702857 0.00001
NM_000188.3(HK1):c.2519C>T (p.Ala840Val) rs373871387 0.00001
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg) rs768553877 0.00001
NM_000355.4(TCN2):c.109C>T (p.His37Tyr) rs1326813642 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_001014.5(RPS10):c.40C>T (p.Leu14Phe) rs1426463647 0.00001
NM_001018115.3(FANCD2):c.2179C>T (p.Pro727Ser) rs911843298 0.00001
NM_001018115.3(FANCD2):c.2203C>T (p.Arg735Trp) rs752621186 0.00001
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp) rs61753270 0.00001
NM_001022.4(RPS19):c.259G>A (p.Val87Ile) rs782752734 0.00001
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451 0.00001
NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr) rs770499988 0.00001
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) rs757964620 0.00001
NM_001374504.1(TMPRSS6):c.827T>G (p.Leu276Arg) rs372887020 0.00001
NM_001386140.1(MTTP):c.393+5A>G rs771577895 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) rs756572268 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 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.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.1580A>T (p.Asp527Val) rs1554558407 0.00001
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys) rs1586053587 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.1770A>T (p.Arg590Ser) rs1586053003 0.00001
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) rs746632073 0.00001
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly) rs587782155 0.00001
NM_002485.5(NBN):c.2071G>A (p.Val691Ile) rs772059959 0.00001
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg) rs1367898317 0.00001
NM_002485.5(NBN):c.2174A>G (p.Gln725Arg) rs878854510 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.321-3C>T rs751356470 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.490G>T (p.Ala164Ser) rs786201252 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 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.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.938C>T (p.Ala313Val) rs730881862 0.00001
NM_002948.5(RPL15):c.536A>G (p.Lys179Arg) rs774572575 0.00001
NM_003126.4(SPTA1):c.3189-13A>G rs776423390 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser) rs749946550 0.00001
NM_004629.2(FANCG):c.766C>T (p.His256Tyr) rs753955326 0.00001
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile) rs61757386 0.00001
NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp) rs1234856735 0.00001
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met) rs746106147 0.00001
NM_005431.2(XRCC2):c.97G>C (p.Ala33Pro) rs774296079 0.00001
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val) rs1490832268 0.00001
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly) rs1345924349 0.00001
NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser) rs773847949 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile) rs377429618 0.00001
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg) rs770063294 0.00001
NM_018062.4(FANCL):c.992A>C (p.Gln331Pro) rs746967598 0.00001
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) rs561265847 0.00001
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr) rs752377027 0.00001
NM_020207.7(ERCC6L2):c.1097G>A (p.Gly366Asp) rs140078259 0.00001
NM_021922.3(FANCE):c.104C>T (p.Ala35Val) rs570498238 0.00001
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln) rs777849670 0.00001
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg) rs757993614 0.00001
NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp) rs1052888437 0.00001
NM_032444.4(SLX4):c.2208G>C (p.Gln736His) rs1293011888 0.00001
NM_032444.4(SLX4):c.3806G>C (p.Cys1269Ser) rs779426291 0.00001
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe) rs556682517 0.00001
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe) rs763539738 0.00001
NM_032444.4(SLX4):c.5384G>A (p.Arg1795His) rs926700658 0.00001
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met) rs587781680 0.00001
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp) rs538884532 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_000037.4(ANK1):c.1693G>T (p.Ala565Ser) rs1827218179
NM_000037.4(ANK1):c.1828G>T (p.Ala610Ser)
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr) rs863224590
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys) rs753719658
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val) rs986889143
NM_000135.4(FANCA):c.2140C>T (p.Arg714Trp)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr) rs2039267533
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000135.4(FANCA):c.3626+5G>C rs370801038
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4168-4C>T rs775180524
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg) rs1467900630
NM_000136.3(FANCC):c.1329+115C>T rs2071912393
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp) rs1419677503
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe) rs1269365165
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr) rs139035514
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
NM_000324.3(RHAG):c.974A>G (p.His325Arg)
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000969.5(RPL5):c.890_893dup (p.Ter298=) rs1687379541
NM_000975.5(RPL11):c.28A>T (p.Asn10Tyr)
NM_000996.4(RPL35A):c.41A>T (p.Tyr14Phe) rs1366033915
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) rs2092364017
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly) rs2087075324
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.268C>A (p.Pro90Thr)
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu) rs532250395
NM_001018115.3(FANCD2):c.3203T>C (p.Ile1068Thr) rs2125060186
NM_001018115.3(FANCD2):c.3209A>G (p.His1070Arg) rs759516610
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val) rs2086517367
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu) rs1486214768
NM_001022.4(RPS19):c.72-15C>G rs530537278
NM_001029.5(RPS26):c.61A>C (p.Ile21Leu) rs1392801928
NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg) rs1955656296
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001083116.3(PRF1):c.442G>A (p.Ala148Thr) rs1208723557
NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) rs2053319905
NM_001113378.2(FANCI):c.1382-5T>C rs2151549574
NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile)
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) rs548947826
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
NM_001113378.2(FANCI):c.546-5C>T rs2052826764
NM_001113378.2(FANCI):c.775G>A (p.Val259Met) rs2053062704
NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly)
NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys) rs1848131795
NM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer)
NM_001142285.2(RPS24):c.659C>T (p.Ala220Val) rs530358175
NM_001142864.4(PIEZO1):c.1020+14A>G rs956707579
NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln) rs753296407
NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His) rs774268616
NM_001142864.4(PIEZO1):c.849-5G>A rs1905373372
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly) rs1690651311
NM_001358263.1(HK1):c.75+20336T>A rs769395943
NM_001367805.3(KIF23):c.2482T>A (p.Ser828Thr)
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) rs1738413262
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly) rs1734869328
NM_002485.5(NBN):c.1028C>T (p.Ser343Leu) rs1810856747
NM_002485.5(NBN):c.1052A>C (p.Lys351Thr)
NM_002485.5(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu) rs1354459986
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.5(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.5(NBN):c.1194A>C (p.Gln398His) rs200046373
NM_002485.5(NBN):c.11T>C (p.Leu4Pro) rs748090667
NM_002485.5(NBN):c.1213G>A (p.Glu405Lys) rs1810666621
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile) rs757452107
NM_002485.5(NBN):c.1352A>G (p.Gln451Arg) rs1554559068
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser) rs876659312
NM_002485.5(NBN):c.1373A>T (p.Tyr458Phe)
NM_002485.5(NBN):c.1377T>G (p.Phe459Leu) rs1397458119
NM_002485.5(NBN):c.1408G>A (p.Glu470Lys)
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.1423A>C (p.Met475Leu) rs767106269
NM_002485.5(NBN):c.1429T>C (p.Ser477Pro) rs1586054780
NM_002485.5(NBN):c.1442C>T (p.Ala481Val)
NM_002485.5(NBN):c.1456T>A (p.Ser486Thr)
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.1461T>G (p.Cys487Trp)
NM_002485.5(NBN):c.1481A>T (p.Gln494Leu)
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser) rs1563526901
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys) rs1554558445
NM_002485.5(NBN):c.1594G>T (p.Val532Leu) rs545435120
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly) rs876658501
NM_002485.5(NBN):c.1622C>T (p.Ala541Val) rs876658501
NM_002485.5(NBN):c.1645A>G (p.Lys549Glu) rs1810540992
NM_002485.5(NBN):c.1646A>T (p.Lys549Ile)
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
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.1687T>A (p.Leu563Met) rs1466493008
NM_002485.5(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu) rs1554558303
NM_002485.5(NBN):c.179C>A (p.Thr60Lys) rs1586109164
NM_002485.5(NBN):c.17C>T (p.Pro6Leu) rs876658432
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu) rs1554558199
NM_002485.5(NBN):c.1844C>T (p.Ser615Phe) rs1810520002
NM_002485.5(NBN):c.1845+4A>G
NM_002485.5(NBN):c.1845+5_1845+8del rs1563524615
NM_002485.5(NBN):c.1846-1G>A rs61753717
NM_002485.5(NBN):c.1851A>C (p.Glu617Asp) rs1660299603
NM_002485.5(NBN):c.1870C>G (p.Arg624Gly) rs962092255
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.5(NBN):c.188T>A (p.Ile63Asn) rs961554359
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg) rs1586043635
NM_002485.5(NBN):c.190C>T (p.Pro64Ser) rs267602038
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.1915-5T>G rs1554556608
NM_002485.5(NBN):c.191C>G (p.Pro64Arg) rs1563581492
NM_002485.5(NBN):c.1940G>A (p.Ser647Asn)
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.5(NBN):c.194T>A (p.Val65Glu) rs1563581457
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys) rs201781110
NM_002485.5(NBN):c.1984C>A (p.Leu662Met)
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys) rs1554556522
NM_002485.5(NBN):c.202T>G (p.Leu68Val) rs1200599843
NM_002485.5(NBN):c.2039G>A (p.Gly680Asp)
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+5G>A rs1323512485
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg) rs746090959
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr) rs1060503461
NM_002485.5(NBN):c.2101C>T (p.His701Tyr) rs587781567
NM_002485.5(NBN):c.210T>G (p.Asp70Glu) rs1554568357
NM_002485.5(NBN):c.2131C>T (p.His711Tyr) rs780333168
NM_002485.5(NBN):c.2131CAT[1] (p.His712del) rs786204096
NM_002485.5(NBN):c.2177A>G (p.Glu726Gly) rs1554555736
NM_002485.5(NBN):c.2185-3C>T rs1809726732
NM_002485.5(NBN):c.2197del (p.His733fs)
NM_002485.5(NBN):c.2198A>G (p.His733Arg) rs998714046
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.2226T>G (p.Asp742Glu) rs767523514
NM_002485.5(NBN):c.226A>G (p.Thr76Ala) rs1586108851
NM_002485.5(NBN):c.244A>G (p.Lys82Glu) rs193921030
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.249G>A (p.Met83Ile) rs1438838735
NM_002485.5(NBN):c.25G>A (p.Gly9Ser) rs2129938127
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.5(NBN):c.278C>G (p.Ser93Trp)
NM_002485.5(NBN):c.328T>G (p.Tyr110Asp)
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.34G>A (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.365T>C (p.Val122Ala)
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.403C>T (p.Leu135Phe)
NM_002485.5(NBN):c.480+3A>G rs756817252
NM_002485.5(NBN):c.490G>A (p.Ala164Thr) rs786201252
NM_002485.5(NBN):c.523G>C (p.Glu175Gln) rs730881861
NM_002485.5(NBN):c.536A>T (p.Glu179Val) rs864622578
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.593C>T (p.Pro198Leu) rs951997505
NM_002485.5(NBN):c.601G>C (p.Asp201His) rs757186245
NM_002485.5(NBN):c.602A>G (p.Asp201Gly) rs587780098
NM_002485.5(NBN):c.614T>C (p.Ile205Thr) rs786203215
NM_002485.5(NBN):c.625A>C (p.Asn209His)
NM_002485.5(NBN):c.631G>C (p.Asp211His) rs752104183
NM_002485.5(NBN):c.655A>C (p.Lys219Gln) rs730881846
NM_002485.5(NBN):c.704A>C (p.His235Pro)
NM_002485.5(NBN):c.769GAA[2] (p.Glu259del) rs2129830023
NM_002485.5(NBN):c.779A>G (p.His260Arg)
NM_002485.5(NBN):c.77T>C (p.Val26Ala) rs781536675
NM_002485.5(NBN):c.80G>A (p.Gly27Glu) rs755171159
NM_002485.5(NBN):c.812T>C (p.Val271Ala) rs1811458181
NM_002485.5(NBN):c.872A>C (p.Gln291Pro) rs587778547
NM_002485.5(NBN):c.882G>C (p.Met294Ile) rs1811450172
NM_002485.5(NBN):c.896G>A (p.Arg299Lys)
NM_002485.5(NBN):c.897G>T (p.Arg299Ser) rs779798363
NM_002485.5(NBN):c.913A>G (p.Ile305Val)
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.5(NBN):c.953C>T (p.Thr318Ile) rs1811146292
NM_002485.5(NBN):c.99T>G (p.Ile33Met) rs1172365532
NM_003126.4(SPTA1):c.6376G>T (p.Val2126Leu) rs1210432921
NM_003126.4(SPTA1):c.6697T>C (p.Tyr2233His) rs1649487063
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly) rs147105770
NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu) rs2031938186
NM_005236.3(ERCC4):c.207+5G>C rs766355378
NM_005236.3(ERCC4):c.2249G>A (p.Arg750His) rs748870665
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) rs1557115869
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) rs2065355018
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) rs2065343736
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) rs2065317868
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) rs2065303644
NM_006363.6(SEC23B):c.-14-1G>A rs967988810
NM_006947.4(SRP72):c.50A>G (p.Glu17Gly)
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.704del (p.Gly235fs)
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_016038.4(SBDS):c.443A>G (p.Lys148Arg)
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala) rs1891515868
NM_018062.4(FANCL):c.524C>T (p.Ala175Val) rs199966372
NM_018062.4(FANCL):c.904-4G>T rs757211531
NM_018124.4(RFWD3):c.1577G>A (p.Ser526Asn)
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile) rs1767643426
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln) rs45600543
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser) rs372625322
NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)
NM_022725.4(FANCF):c.581A>G (p.Glu194Gly) rs1274843959
NM_022725.4(FANCF):c.801C>A (p.His267Gln) rs762356967
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu) rs781049663
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser) rs1060502796
NM_025215.6(PUS1):c.517C>T (p.His173Tyr)
NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)
NM_032444.4(SLX4):c.1331A>C (p.Glu444Ala) rs2040681362
NM_032444.4(SLX4):c.1553A>G (p.Gln518Arg)
NM_032444.4(SLX4):c.1672C>T (p.Arg558Trp) rs372264472
NM_032444.4(SLX4):c.1699C>T (p.Pro567Ser) rs765739226
NM_032444.4(SLX4):c.3209C>T (p.Ser1070Phe) rs2040570774
NM_032444.4(SLX4):c.352C>G (p.Pro118Ala) rs1264184614
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5368C>A (p.Leu1790Ile) rs2040449660
NM_032444.4(SLX4):c.5470C>T (p.Gln1824Ter) rs1037474114
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly) rs79842542
NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser) rs1567818058

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