ClinVar Miner

List of variants studied for immune system disorder by Baylor Genetics

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3392
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001625.4(AK2):c.386G>A (p.Ser129Asn) rs61750965 0.00379
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
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_181078.3(IL21R):c.1033G>A (p.Gly345Ser) rs56148525 0.00271
NM_000760.4(CSF3R):c.2041-30C>T rs3918021 0.00270
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys) rs115365142 0.00260
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu) rs146478431 0.00249
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys) rs201231274 0.00239
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly) rs73764462 0.00229
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr) rs114888195 0.00210
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798 0.00205
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr) rs117063344 0.00202
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro) rs35746269 0.00180
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201 0.00176
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val) rs141719745 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419 0.00133
NM_001006658.3(CR2):c.2903-3C>A rs372214909 0.00128
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp) rs11567735 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_203447.4(DOCK8):c.378C>G (p.Ile126Met) rs141175202 0.00124
NM_203447.4(DOCK8):c.4724G>A (p.Arg1575Lys) rs141252560 0.00121
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_001364905.1(LRBA):c.5754+15T>C rs112952572 0.00118
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237 0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
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_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_032415.7(CARD11):c.*4G>A rs202091104 0.00110
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_203447.4(DOCK8):c.550G>A (p.Val184Met) rs143461644 0.00105
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg) rs781829024 0.00102
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_001770.6(CD19):c.395T>G (p.Leu132Arg) rs146795664 0.00093
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_005045.4(RELN):c.577+7G>T rs188372756 0.00091
NM_203447.4(DOCK8):c.3841-11C>T rs372829200 0.00089
NM_001079.4(ZAP70):c.1289+10G>A rs200538234 0.00088
NM_006785.4(MALT1):c.649+9C>T rs200919386 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys) rs141902449 0.00084
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) rs140294222 0.00083
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000063.6(C2):c.2171C>T (p.Pro724Leu) rs145050210 0.00081
NM_199242.3(UNC13D):c.610A>G (p.Met204Val) rs144722609 0.00081
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390 0.00078
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681 0.00076
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
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_014339.7(IL17RA):c.1232C>T (p.Ala411Val) rs151166583 0.00069
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_001290043.2(TAP2):c.1733C>T (p.Ala578Val) rs78328107 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu) rs116568645 0.00066
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538 0.00061
NM_015599.3(PGM3):c.1354C>A (p.Leu452Ile) rs201593125 0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) rs143614333 0.00058
NM_001012339.3(DNAJC21):c.958G>A (p.Asp320Asn) rs148374246 0.00058
NM_000215.4(JAK3):c.23C>T (p.Thr8Met) rs145500023 0.00056
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_001127208.3(TET2):c.1285G>A (p.Gly429Arg) rs201642693 0.00056
NM_004946.3(DOCK2):c.2939T>C (p.Ile980Thr) rs148694888 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_013314.4(BLNK):c.178G>A (p.Glu60Lys) rs148249957 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_001369369.1(FOXN1):c.832A>G (p.Ile278Val) rs113979879 0.00055
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu) rs186203343 0.00054
NM_014339.7(IL17RA):c.277G>A (p.Val93Met) rs147495146 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg) rs141141752 0.00052
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu) rs199739943 0.00050
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_080424.4(SP110):c.328T>C (p.Tyr110His) rs200651686 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_001558.4(IL10RA):c.1234C>T (p.Arg412Trp) rs143538561 0.00044
NM_199242.3(UNC13D):c.2278G>A (p.Val760Ile) rs143264522 0.00044
NM_001735.3(C5):c.55C>T (p.Gln19Ter) rs121909587 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys) rs141367100 0.00042
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) rs375754042 0.00042
NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His) rs148170326 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_001014987.2(LAT):c.422C>T (p.Pro141Leu) rs139206035 0.00039
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) rs782644732 0.00039
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001572.5(IRF7):c.869A>G (p.Asp290Gly) rs368953537 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) rs78534353 0.00036
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile) rs34256013 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val) rs145175796 0.00035
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_001282933.2(ZNF341):c.910G>A (p.Ala304Thr) rs201763709 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 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_001735.3(C5):c.754G>A (p.Ala252Thr) rs112959008 0.00032
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_001018115.3(FANCD2):c.2803A>C (p.Ile935Leu) rs61751578 0.00029
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_001783.4(CD79A):c.269C>T (p.Thr90Met) rs137953079 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_013314.4(BLNK):c.205-15C>T rs199854336 0.00027
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 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_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_001369369.1(FOXN1):c.1454C>T (p.Pro485Leu) rs374049334 0.00025
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu) rs991748781 0.00025
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr) rs199603062 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr) rs149216902 0.00023
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_001006658.3(CR2):c.2723T>C (p.Ile908Thr) rs138785170 0.00021
NM_001735.3(C5):c.65C>T (p.Thr22Ile) rs142075999 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser) rs919904139 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_020529.3(NFKBIA):c.337-20G>A rs371120371 0.00021
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_005356.5(LCK):c.851C>G (p.Ala284Gly) rs142611772 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_000628.5(IL10RB):c.215C>T (p.Thr72Met) rs148466782 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_001243133.2(NLRP3):c.674C>T (p.Ala225Val) rs180177493 0.00019
NM_001291303.3(FAT4):c.8821A>G (p.Thr2941Ala) rs151209952 0.00019
NM_001364905.1(LRBA):c.5744C>T (p.Ala1915Val) rs201500267 0.00019
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_003331.5(TYK2):c.1807G>A (p.Val603Met) rs140594440 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_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter) rs121909588 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_012452.3(TNFRSF13B):c.171G>C (p.Gln57His) rs149084717 0.00018
NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr) rs140117667 0.00018
NM_001128148.3(TFRC):c.1136A>G (p.Asn379Ser) rs539830157 0.00017
NM_001354930.2(RIPK1):c.931G>A (p.Glu311Lys) rs184895368 0.00017
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met) rs149933993 0.00017
NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe) rs952309844 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys) rs151089298 0.00016
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) rs147319483 0.00016
NM_001018115.3(FANCD2):c.2555C>G (p.Pro852Arg) rs375827113 0.00016
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_006785.4(MALT1):c.133C>G (p.Leu45Val) rs549192343 0.00016
NM_012452.3(TNFRSF13B):c.592C>T (p.Arg198Cys) rs140781824 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_000417.3(IL2RA):c.484G>A (p.Gly162Ser) rs146966522 0.00015
NM_001905.4(CTPS1):c.1692-1G>C rs145092287 0.00015
NM_006767.4(LZTR1):c.594-3C>T rs373968693 0.00015
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) rs141273371 0.00015
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494 0.00014
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser) rs200385766 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_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_001128148.3(TFRC):c.2186C>T (p.Thr729Met) rs202242239 0.00013
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val) rs367793349 0.00013
NM_003331.5(TYK2):c.630-3C>T rs750663278 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_032790.4(ORAI1):c.14C>T (p.Pro5Leu) rs549883296 0.00013
NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter) rs142487599 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000271.5(NPC1):c.467T>C (p.Met156Thr) rs147615070 0.00012
NM_001291303.3(FAT4):c.8313T>C (p.Asn2771=) rs148344513 0.00012
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896 0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001369369.1(FOXN1):c.92C>T (p.Pro31Leu) rs771909592 0.00011
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr) rs921077083 0.00011
NM_006904.7(PRKDC):c.11990T>C (p.Leu3997Pro) rs201883689 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_138387.4(G6PC3):c.687C>T (p.Ser229=) rs377343204 0.00011
NM_203447.4(DOCK8):c.3134C>T (p.Ala1045Val) rs755658263 0.00011
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser) rs375754332 0.00010
NM_000073.3(CD3G):c.122C>T (p.Ser41Leu) rs201752677 0.00010
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala) rs756904762 0.00010
NM_001364905.1(LRBA):c.5899G>A (p.Ala1967Thr) rs141395658 0.00010
NM_001754.5(RUNX1):c.1252A>G (p.Met418Val) rs578042376 0.00010
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328 0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000246.4(CIITA):c.1684G>A (p.Ala562Thr) rs199476070 0.00009
NM_000417.3(IL2RA):c.787C>T (p.Arg263Trp) rs140088691 0.00009
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) rs539590514 0.00009
NM_000543.5(SMPD1):c.1081C>T (p.Arg361Cys) rs370198638 0.00009
NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr) rs140544054 0.00009
NM_003331.5(TYK2):c.727C>T (p.Arg243Trp) rs200003143 0.00009
NM_004523.4(KIF11):c.193A>G (p.Thr65Ala) rs200410468 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 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_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 0.00009
NM_000211.5(ITGB2):c.1349G>A (p.Arg450Gln) rs764262758 0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_000551.4(VHL):c.25G>A (p.Asp9Asn) rs587780730 0.00008
NM_001018115.3(FANCD2):c.1279-2A>G rs748006255 0.00008
NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) rs368711186 0.00008
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001282933.2(ZNF341):c.119C>T (p.Ala40Val) rs151120596 0.00008
NM_003331.5(TYK2):c.1342C>T (p.Arg448Trp) rs147991080 0.00008
NM_015599.3(PGM3):c.38A>G (p.His13Arg) rs142328170 0.00008
NM_015599.3(PGM3):c.506G>A (p.Arg169Gln) rs752438675 0.00008
NM_018062.4(FANCL):c.238C>G (p.Leu80Val) rs563513081 0.00008
NM_133459.4(CCBE1):c.901C>T (p.Arg301Trp) rs375717418 0.00008
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_000733.4(CD3E):c.103+10T>C rs143015515 0.00007
NM_001228.5(CASP8):c.-26-8118G>A rs376887804 0.00007
NM_001364905.1(LRBA):c.2671T>C (p.Tyr891His) rs757344529 0.00007
NM_002838.5(PTPRC):c.985G>A (p.Glu329Lys) rs2274367 0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 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_032638.5(GATA2):c.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000066.4(C8B):c.27G>A (p.Trp9Ter) rs759074976 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_000271.5(NPC1):c.2862G>A (p.Ser954=) rs373517774 0.00006
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) rs104894287 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000593.6(TAP1):c.302C>T (p.Ala101Val) rs375437555 0.00006
NM_001006658.3(CR2):c.818-4C>T rs370106455 0.00006
NM_001018115.3(FANCD2):c.1601A>G (p.Tyr534Cys) rs143701205 0.00006
NM_001127593.1(FCGR3A):c.-62-192T>C rs1003462350 0.00006
NM_001354930.2(RIPK1):c.1194G>C (p.Gln398His) rs34457341 0.00006
NM_001375462.1(LPP):c.1354C>T (p.Arg452Ter) rs202115941 0.00006
NM_001735.3(C5):c.95G>A (p.Arg32His) rs144876205 0.00006
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg) rs749004431 0.00006
NM_001754.5(RUNX1):c.917G>A (p.Arg306His) rs139336358 0.00006
NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser) rs375833261 0.00006
NM_004364.5(CEBPA):c.827A>G (p.Lys276Arg) rs201061067 0.00006
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly) rs565236668 0.00006
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 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_005419.4(STAT2):c.903C>T (p.Asn301=) rs145152331 0.00006
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser) rs368649599 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His) rs150974807 0.00006
NM_012452.3(TNFRSF13B):c.637G>A (p.Ala213Thr) rs140914723 0.00006
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter) rs140800288 0.00006
NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu) rs760748113 0.00006
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258 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_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_133459.4(CCBE1):c.845G>A (p.Arg282Gln) rs140813794 0.00006
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) rs200478425 0.00006
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_172369.5(C1QC):c.538G>A (p.Val180Met) rs200292688 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu) rs370123223 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000051.4(ATM):c.716T>C (p.Phe239Ser) rs143198946 0.00005
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
NM_001006658.3(CR2):c.1021C>T (p.Arg341Cys) rs529311780 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met) rs367899281 0.00005
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001199138.2(NLRC4):c.1754A>G (p.Tyr585Cys) rs763410160 0.00005
NM_001354930.2(RIPK1):c.1862G>A (p.Arg621Gln) rs780239674 0.00005
NM_001364905.1(LRBA):c.5470C>T (p.Arg1824Trp) rs374719524 0.00005
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser) rs1455462308 0.00005
NM_004629.2(FANCG):c.769C>T (p.Arg257Cys) rs759314410 0.00005
NM_005026.5(PIK3CD):c.1955+15C>T rs186998116 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006904.7(PRKDC):c.1054G>A (p.Val352Met) rs772734060 0.00005
NM_032415.7(CARD11):c.3303C>T (p.Arg1101=) rs764369378 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_173842.3(IL1RN):c.418G>A (p.Ala140Thr) rs565499594 0.00005
NM_203447.4(DOCK8):c.1343G>A (p.Arg448Lys) rs368164879 0.00005
NM_000135.4(FANCA):c.2009G>A (p.Arg670His) rs537923341 0.00004
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 0.00004
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.556G>A (p.Glu186Lys) rs367545984 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000569.8(FCGR3A):c.145G>A (p.Gly49Arg) rs777467556 0.00004
NM_001006658.3(CR2):c.2497G>A (p.Gly833Arg) rs768521188 0.00004
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter) rs755350165 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_001322934.2(NFKB2):c.2579C>G (p.Ala860Gly) rs371190206 0.00004
NM_001364905.1(LRBA):c.2504G>A (p.Ser835Asn) rs866363880 0.00004
NM_001364905.1(LRBA):c.637A>G (p.Ser213Gly) rs538370042 0.00004
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) rs104895457 0.00004
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys) rs759078185 0.00004
NM_001754.5(RUNX1):c.801G>A (p.Met267Ile) rs757570529 0.00004
NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser) rs752288830 0.00004
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) rs374343844 0.00004
NM_004364.5(CEBPA):c.325C>T (p.Pro109Ser) rs1027991203 0.00004
NM_004946.3(DOCK2):c.1384-4T>C rs1295678117 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_006118.4(HAX1):c.376C>T (p.Arg126Trp) rs765538745 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_018062.4(FANCL):c.472-1G>C rs768814501 0.00004
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) rs567155861 0.00004
NM_020964.3(EPG5):c.6340C>T (p.Arg2114Cys) rs775329245 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 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_032415.7(CARD11):c.583G>C (p.Val195Leu) rs747351557 0.00004
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu) rs781161922 0.00004
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile) rs770949428 0.00004
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) rs746362966 0.00004
NM_080911.3(UNG):c.260C>T (p.Ala87Val) rs767034552 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_181078.3(IL21R):c.209C>T (p.Ser70Leu) rs780430063 0.00004
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910 0.00004
NM_203447.4(DOCK8):c.2971-5C>T rs373718659 0.00004
NM_203447.4(DOCK8):c.3484C>T (p.Leu1162Phe) rs757455782 0.00004
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00003
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.3828+1G>C rs1432988639 0.00003
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile) rs1254151716 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 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_000448.3(RAG1):c.1228C>T (p.Arg410Trp) rs758288006 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000448.3(RAG1):c.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_000448.3(RAG1):c.335G>A (p.Arg112His) rs749223640 0.00003
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000551.4(VHL):c.427G>C (p.Asp143His) rs372757722 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_000587.4(C7):c.1411A>T (p.Thr471Ser) rs371379073 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001033855.3(DCLRE1C):c.109+1G>T rs143144732 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001042492.3(NF1):c.2999G>A (p.Arg1000His) rs753082620 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.1136G>A (p.Arg379Gln) rs746431351 0.00003
NM_001113378.2(FANCI):c.1891-2A>G rs776329920 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001142864.4(PIEZO1):c.2401C>T (p.Arg801Cys) rs1021969177 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr) rs922736848 0.00003
NM_001754.5(RUNX1):c.1184C>T (p.Pro395Leu) rs868527382 0.00003
NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys) rs561166961 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_001754.5(RUNX1):c.872T>C (p.Ile291Thr) rs371026644 0.00003
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met) rs758682659 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) rs201917359 0.00003
NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser) rs587778192 0.00003
NM_004364.5(CEBPA):c.1055A>G (p.Lys352Arg) rs775099224 0.00003
NM_004364.5(CEBPA):c.1060A>G (p.Met354Val) rs1060502122 0.00003
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu) rs1311096326 0.00003
NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser) rs1328994773 0.00003
NM_004364.5(CEBPA):c.421G>T (p.Gly141Cys) rs1408671093 0.00003
NM_004364.5(CEBPA):c.527C>T (p.Ala176Val) rs957167825 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_005045.4(RELN):c.7147G>A (p.Ala2383Thr) rs978248682 0.00003
NM_005419.4(STAT2):c.331C>T (p.Leu111Phe) rs199890161 0.00003
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp) rs757502214 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_006904.7(PRKDC):c.4861A>G (p.Thr1621Ala) rs370593598 0.00003
NM_006949.4(STXBP2):c.533C>T (p.Thr178Met) rs762234445 0.00003
NM_012452.3(TNFRSF13B):c.693C>G (p.Ser231Arg) rs145711865 0.00003
NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly) rs767119998 0.00003
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter) rs756503608 0.00003
NM_021803.4(IL21):c.119G>A (p.Arg40His) rs141748932 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_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_152564.5(VPS13B):c.5270C>T (p.Ala1757Val) rs1055918734 0.00003
NM_000022.4(ADA):c.350G>A (p.Trp117Ter) rs749484894 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338 0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327 0.00002
NM_000051.4(ATM):c.2036G>C (p.Gly679Ala) rs544123518 0.00002
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_000135.4(FANCA):c.1777-1G>C rs755104393 0.00002
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe) rs758866109 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000215.4(JAK3):c.2490+4A>C rs745806475 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105 0.00002
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys) rs199474678 0.00002
NM_000448.3(RAG1):c.1682G>A (p.Arg561His) rs104894284 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) rs104894286 0.00002
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr) rs752148586 0.00002
NM_000551.4(VHL):c.14C>T (p.Ala5Val) rs755333116 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000551.4(VHL):c.590A>C (p.Asp197Ala) rs752940316 0.00002
NM_000551.4(VHL):c.605C>T (p.Thr202Ile) rs779514074 0.00002
NM_001006658.3(CR2):c.446-10G>T rs1422635726 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.3513T>G (p.Asp1171Glu) rs760823688 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 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_001042492.3(NF1):c.1247G>A (p.Arg416Gln) rs1343309278 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala) rs1033427343 0.00002
NM_001079.4(ZAP70):c.692C>T (p.Thr231Met) rs141613906 0.00002
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter) rs1432325198 0.00002
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492 0.00002
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) rs902775927 0.00002
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs) rs769726248 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_001348946.2(ABCB1):c.470G>A (p.Arg157Gln) rs202002337 0.00002
NM_001364905.1(LRBA):c.782A>G (p.Lys261Arg) rs375175981 0.00002
NM_001372051.1(CASP8):c.120T>G (p.Asp40Glu) rs759793127 0.00002
NM_001737.5(C9):c.409G>A (p.Glu137Lys) rs753246845 0.00002
NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro) rs1408720761 0.00002
NM_001754.5(RUNX1):c.748C>T (p.Arg250Cys) rs1296210151 0.00002
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn) rs781409951 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002838.5(PTPRC):c.1084G>A (p.Glu362Lys) rs917430300 0.00002
NM_003665.4(FCN3):c.620A>G (p.Tyr207Cys) rs781053078 0.00002
NM_003721.4(RFXANK):c.338-25_338del rs776752313 0.00002
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr) rs996435066 0.00002
NM_004364.5(CEBPA):c.252C>G (p.His84Gln) rs878854700 0.00002
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala) rs1162371435 0.00002
NM_004364.5(CEBPA):c.830C>T (p.Ser277Leu) rs1269133775 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1144-1G>T rs755363896 0.00002
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter) rs776122485 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter) rs779834525 0.00002
NM_004946.3(DOCK2):c.2782C>T (p.Arg928Trp) rs200070944 0.00002
NM_004946.3(DOCK2):c.4517A>G (p.Asn1506Ser) rs755601163 0.00002
NM_005026.5(PIK3CD):c.971G>A (p.Arg324His) rs773473376 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_005188.4(CBL):c.664A>C (p.Met222Leu) rs773611782 0.00002
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00002
NM_006397.3(RNASEH2A):c.439G>A (p.Glu147Lys) rs769486587 0.00002
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) rs778626874 0.00002
NM_006846.4(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402 0.00002
NM_006949.4(STXBP2):c.1213C>T (p.Arg405Trp) rs769717341 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_006949.4(STXBP2):c.902+5G>A rs768725365 0.00002
NM_007259.5(VPS45):c.223A>G (p.Thr75Ala) rs782052786 0.00002
NM_014009.4(FOXP3):c.977A>G (p.His326Arg) rs782429831 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_018062.4(FANCL):c.500T>C (p.Val167Ala) rs1338440311 0.00002
NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly) rs1171989598 0.00002
NM_022047.4(DEF6):c.1850C>T (p.Ala617Val) rs866047183 0.00002
NM_024598.4(USB1):c.253G>A (p.Val85Ile) rs764580227 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 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_032638.5(GATA2):c.1370C>T (p.Thr457Met) rs139415862 0.00002
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys) rs140047487 0.00002
NM_032638.5(GATA2):c.669G>A (p.Met223Ile) rs140382420 0.00002
NM_032638.5(GATA2):c.755A>G (p.Tyr252Cys) rs1060500090 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_144687.4(NLRP12):c.1330C>G (p.Gln444Glu) rs371528857 0.00002
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) rs772658121 0.00002
NM_182746.3(MCM4):c.1661G>A (p.Arg554Lys) rs921501374 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_199242.3(UNC13D):c.1829G>A (p.Arg610His) rs749184121 0.00002
NM_203447.4(DOCK8):c.3757G>A (p.Gly1253Ser) rs1395205685 0.00002
NM_203447.4(DOCK8):c.562G>A (p.Val188Met) rs201847818 0.00002
NM_000022.4(ADA):c.218+1G>A rs528390681 0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.377C>A (p.Pro126Gln) rs1233957241 0.00001
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) rs121908727 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.678+5G>C rs763478578 0.00001
NM_000022.4(ADA):c.845+1G>C rs766590645 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu) rs537377433 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000081.4(LYST):c.1507C>T (p.Arg503Ter) rs1558282769 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter) rs755018069 0.00001
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter) rs769718381 0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) rs779745863 0.00001
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys) rs1012809189 0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.189+1G>T rs891323617 0.00001
NM_000135.4(FANCA):c.190-1G>C rs765277254 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 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.3513+1G>A rs1188082371 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 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.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 0.00001
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His) rs1041491550 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter) rs1384166265 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000136.3(FANCC):c.1329+1G>T rs1554829441 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.1533+1G>C rs753885687 0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.45G>A (p.Trp15Ter) rs1831179586 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.583G>C (p.Asp195His) rs774140528 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) rs864622191 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000215.4(JAK3):c.1108G>A (p.Glu370Lys) rs200631515 0.00001
NM_000215.4(JAK3):c.932C>T (p.Pro311Leu) rs781705937 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000246.4(CIITA):c.3004G>A (p.Glu1002Lys) rs762687010 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.2942C>T (p.Pro981Leu) rs1567948691 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000355.4(TCN2):c.109C>T (p.His37Tyr) rs1326813642 0.00001
NM_000448.3(RAG1):c.1187G>A (p.Arg396His) rs104894291 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.1480A>G (p.Ile494Val) rs777216600 0.00001
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) rs104894285 0.00001
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys) rs199474688 0.00001
NM_000448.3(RAG1):c.1871G>A (p.Arg624His) rs199474680 0.00001
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) rs199776076 0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) rs121918572 0.00001
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) rs121918569 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr) rs182385524 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr) rs121918571 0.00001
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573 0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573 0.00001
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter) rs1315729938 0.00001
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro) rs1064793250 0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019 0.00001
NM_000536.4(RAG2):c.859del (p.Cys287fs) rs754975137 0.00001
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) rs755160837 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg) rs779528546 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119 0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) rs370129081 0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827 0.00001
NM_000543.5(SMPD1):c.319-1G>A rs1352986086 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) rs989639224 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000551.4(VHL):c.118C>T (p.Pro40Ser) rs776399733 0.00001
NM_000551.4(VHL):c.139G>A (p.Glu47Lys) rs1457039250 0.00001
NM_000551.4(VHL):c.205C>G (p.Arg69Gly) rs1428175816 0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.34G>C (p.Glu12Gln) rs1064794788 0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 0.00001
NM_000551.4(VHL):c.4C>G (p.Pro2Ala) rs1034974221 0.00001
NM_000551.4(VHL):c.513G>T (p.Lys171Asn) rs1365445365 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn) rs768390987 0.00001
NM_000551.4(VHL):c.578A>G (p.Asn193Ser) rs879254225 0.00001
NM_000551.4(VHL):c.596A>C (p.Glu199Ala) rs760690217 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NM_000551.4(VHL):c.608A>G (p.Gln203Arg) rs1270568049 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.4(VHL):c.71G>A (p.Gly24Asp) rs878854129 0.00001
NM_000551.4(VHL):c.98C>T (p.Ser33Leu) rs1476994915 0.00001
NM_000760.4(CSF3R):c.*161G>A rs772443391 0.00001
NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg) rs759364352 0.00001
NM_000878.5(IL2RB):c.194C>T (p.Pro65Leu) rs371340355 0.00001
NM_001002029.3(C4B):c.3442G>A (p.Ala1148Thr) rs756439916 0.00001
NM_001006658.3(CR2):c.752C>T (p.Pro251Leu) rs769307763 0.00001
NM_001006658.3(CR2):c.830C>T (p.Pro277Leu) rs201791442 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) rs1181436417 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.2494+2T>C rs779552164 0.00001
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs) rs770686014 0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter) rs369022159 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.376A>G (p.Ser126Gly) rs764507146 0.00001
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs) rs775517107 0.00001
NM_001018115.3(FANCD2):c.3888+2T>G rs1419879344 0.00001
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp) rs61753270 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001033855.3(DCLRE1C):c.464+1G>A rs1162344514 0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) rs1317003987 0.00001
NM_001042492.3(NF1):c.1100G>A (p.Gly367Asp) rs1361040414 0.00001
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863 0.00001
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr) rs1156614886 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln) rs1466678870 0.00001
NM_001042492.3(NF1):c.1337C>T (p.Thr446Ile) rs1389152072 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.1662G>T (p.Gln554His) rs147594815 0.00001
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys) rs780412565 0.00001
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser) rs375038808 0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182 0.00001
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly) rs1203924788 0.00001
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu) rs587781899 0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721 0.00001
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val) rs1060500361 0.00001
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile) rs376666221 0.00001
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr) rs1251621684 0.00001
NM_001042492.3(NF1):c.2690G>A (p.Arg897Gln) rs863224658 0.00001
NM_001042492.3(NF1):c.2741G>A (p.Arg914Gln) rs776447057 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr) rs876659779 0.00001
NM_001042492.3(NF1):c.2803A>C (p.Asn935His) rs786201823 0.00001
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn) rs1555614350 0.00001
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502 0.00001
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met) rs786203132 0.00001
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly) rs1355411201 0.00001
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn) rs774066804 0.00001
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly) rs201645318 0.00001
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala) rs750303863 0.00001
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile) rs1227027709 0.00001
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071 0.00001
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp) rs1452005208 0.00001
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln) rs199474765 0.00001
NM_001042492.3(NF1):c.374G>A (p.Arg125His) rs149003051 0.00001
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206 0.00001
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr) rs876660908 0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377 0.00001
NM_001042492.3(NF1):c.410C>G (p.Ser137Cys) rs1597635932 0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val) rs369345045 0.00001
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys) rs876660428 0.00001
NM_001042492.3(NF1):c.451A>C (p.Asn151His) rs769391944 0.00001
NM_001042492.3(NF1):c.4724+3A>G rs781147524 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp) rs587782213 0.00001
NM_001042492.3(NF1):c.5455G>A (p.Ala1819Thr) rs368998534 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val) rs746689492 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met) rs786203824 0.00001
NM_001042492.3(NF1):c.6262C>G (p.Leu2088Val) rs752569823 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 0.00001
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser) rs757736155 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe) rs367734104 0.00001
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys) rs56013763 0.00001
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met) rs876659856 0.00001
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp) rs878853915 0.00001
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg) rs863224664 0.00001
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val) rs759307070 0.00001
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys) rs371773406 0.00001
NM_001042492.3(NF1):c.7493A>G (p.Lys2498Arg) rs1269264795 0.00001
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val) rs375176282 0.00001
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg) rs864622266 0.00001
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser) rs138839077 0.00001
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val) rs375990655 0.00001
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val) rs1555536748 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.7931C>G (p.Ala2644Gly) rs766494934 0.00001
NM_001042492.3(NF1):c.8378G>C (p.Gly2793Ala) rs1275285522 0.00001
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly) rs764858484 0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met) rs755670651 0.00001
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln) rs76015786 0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val) rs755007999 0.00001
NM_001079.4(ZAP70):c.440C>T (p.Pro147Leu) rs368446882 0.00001
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter) rs1347292940 0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu) rs754443451 0.00001
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs) rs1385885533 0.00001
NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr) rs770499988 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_001113378.2(FANCI):c.3058+1G>A rs149464307 0.00001
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs) rs756691827 0.00001
NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) rs757964620 0.00001
NM_001142864.4(PIEZO1):c.19G>C (p.Gly7Arg) rs1226315961 0.00001
NM_001164277.2(SLC37A4):c.1124+1G>T rs782630676 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.381+2T>G rs782645078 0.00001
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883 0.00001
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) rs551439289 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001243133.2(NLRP3):c.1937A>G (p.Asp646Gly) rs1342790456 0.00001
NM_001291303.3(FAT4):c.2290G>A (p.Val764Ile) rs746714727 0.00001
NM_001291303.3(FAT4):c.8753A>G (p.Glu2918Gly) rs762206992 0.00001
NM_001291303.3(FAT4):c.9152C>A (p.Ser3051Tyr) rs866162018 0.00001
NM_001348946.2(ABCB1):c.480A>G (p.Ile160Met) rs200823786 0.00001
NM_001364905.1(LRBA):c.3263A>G (p.Glu1088Gly) rs1387505849 0.00001
NM_001364905.1(LRBA):c.4186C>G (p.Gln1396Glu) rs760112656 0.00001
NM_001364905.1(LRBA):c.4618A>C (p.Ile1540Leu) rs550389924 0.00001
NM_001364905.1(LRBA):c.5401G>A (p.Glu1801Lys) rs199596976 0.00001
NM_001625.4(AK2):c.202A>G (p.Met68Val) rs548856916 0.00001
NM_001754.5(RUNX1):c.1034C>G (p.Pro345Arg) rs774629580 0.00001
NM_001754.5(RUNX1):c.1039A>G (p.Met347Val) rs1601333587 0.00001
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile) rs370114565 0.00001
NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly) rs534158221 0.00001
NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu) rs1214667759 0.00001
NM_001754.5(RUNX1):c.1266G>C (p.Glu422Asp) rs967317406 0.00001
NM_001754.5(RUNX1):c.1271C>T (p.Ser424Leu) rs1476276192 0.00001
NM_001754.5(RUNX1):c.1301A>G (p.Asn434Ser) rs748885850 0.00001
NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg) rs777551786 0.00001
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met) rs916623598 0.00001
NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu) rs1034562071 0.00001
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu) rs752298116 0.00001
NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu) rs769213771 0.00001
NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala) rs1313711063 0.00001
NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu) rs750755857 0.00001
NM_001754.5(RUNX1):c.367G>C (p.Asp123His) rs373498347 0.00001
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala) rs1182543054 0.00001
NM_001754.5(RUNX1):c.445G>A (p.Ala149Thr) rs752926959 0.00001
NM_001754.5(RUNX1):c.619C>T (p.Arg207Trp) rs1555890007 0.00001
NM_001754.5(RUNX1):c.657G>C (p.Leu219Phe) rs1425437469 0.00001
NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys) rs765528082 0.00001
NM_001754.5(RUNX1):c.77A>C (p.Asn26Thr) rs778220296 0.00001
NM_001754.5(RUNX1):c.832C>T (p.Pro278Ser) rs767251526 0.00001
NM_001754.5(RUNX1):c.856C>A (p.Gln286Lys) rs769966051 0.00001
NM_001754.5(RUNX1):c.967A>G (p.Thr323Ala) rs776703625 0.00001
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser) rs746531841 0.00001
NM_001770.6(CD19):c.228G>T (p.Arg76Ser) rs999692059 0.00001
NM_001972.4(ELANE):c.10G>A (p.Gly4Ser) rs773460580 0.00001
NM_002184.4(IL6ST):c.658+6T>G rs1161277926 0.00001
NM_002185.5(IL7R):c.616C>T (p.Arg206Ter) rs201559094 0.00001
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.145-1G>C rs1057516573 0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter) rs757168691 0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter) rs978284448 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala) rs1223295146 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002838.5(PTPRC):c.2885T>C (p.Ile962Thr) rs766748068 0.00001
NM_003183.6(ADAM17):c.362-11T>C rs1664944582 0.00001
NM_003331.5(TYK2):c.1404C>T (p.Asp468=) rs374132564 0.00001
NM_003467.3(CXCR4):c.727A>C (p.Ile243Leu) rs762937679 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285 0.00001
NM_003839.4(TNFRSF11A):c.866C>T (p.Thr289Ile) rs749136654 0.00001
NM_003998.4(NFKB1):c.671G>A (p.Ser224Asn) rs778125529 0.00001
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser) rs1415169403 0.00001
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu) rs917977456 0.00001
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu) rs1600023321 0.00001
NM_004364.5(CEBPA):c.382C>T (p.Pro128Ser) rs1362518517 0.00001
NM_004364.5(CEBPA):c.413A>T (p.Tyr138Phe) rs908433906 0.00001
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile) rs1366281839 0.00001
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys) rs755311871 0.00001
NM_004364.5(CEBPA):c.532C>G (p.Leu178Val) rs1325138029 0.00001
NM_004364.5(CEBPA):c.541T>C (p.Tyr181His) rs1060502124 0.00001
NM_004364.5(CEBPA):c.803G>T (p.Gly268Val) rs780335632 0.00001
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla) rs767443643 0.00001
NM_004629.2(FANCG):c.1637-2del rs1224034435 0.00001
NM_004629.2(FANCG):c.175+1G>A rs927868500 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004629.2(FANCG):c.500A>G (p.Asn167Ser) rs749946550 0.00001
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter) rs1209807088 0.00001
NM_004629.2(FANCG):c.766C>T (p.His256Tyr) rs753955326 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_004629.2(FANCG):c.905G>T (p.Ser302Ile) rs61757386 0.00001
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter) rs754484649 0.00001
NM_004946.3(DOCK2):c.1936G>A (p.Val646Met) rs1389121134 0.00001
NM_005045.4(RELN):c.2465+5G>T rs772717691 0.00001
NM_005045.4(RELN):c.4918A>G (p.Ile1640Val) rs756988903 0.00001
NM_005045.4(RELN):c.74C>T (p.Ala25Val) rs757957218 0.00001
NM_005228.5(EGFR):c.1690C>T (p.Pro564Ser) rs773651001 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_005419.4(STAT2):c.1061A>G (p.Asn354Ser) rs1432107994 0.00001
NM_005419.4(STAT2):c.2045-9T>G rs1291159527 0.00001
NM_005431.2(XRCC2):c.97G>C (p.Ala33Pro) rs774296079 0.00001
NM_005546.4(ITK):c.1573G>A (p.Ala525Thr) rs753217800 0.00001
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly) rs730881042 0.00001
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys) rs1393222137 0.00001
NM_005633.4(SOS1):c.3352G>T (p.Asp1118Tyr) rs1276062555 0.00001
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile) rs1342428273 0.00001
NM_006118.4(HAX1):c.680G>T (p.Arg227Leu) rs747372275 0.00001
NM_006254.4(PRKCD):c.202G>A (p.Val68Ile) rs781950537 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006610.4(MASP2):c.503G>A (p.Arg168His) rs778384259 0.00001
NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser) rs746064505 0.00001
NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg) rs1311281590 0.00001
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val) rs770762358 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006785.4(MALT1):c.67G>A (p.Ala23Thr) rs994799429 0.00001
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly) rs1326725036 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu) rs368229591 0.00001
NM_006904.7(PRKDC):c.10778G>A (p.Arg3593Lys) rs531330017 0.00001
NM_006904.7(PRKDC):c.3364+4C>T rs779701820 0.00001
NM_006904.7(PRKDC):c.6284C>T (p.Ala2095Val) rs8178147 0.00001
NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=) rs1463023336 0.00001
NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=) rs1037182844 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006929.5(SKIC2):c.2341-2A>G rs781763471 0.00001
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_012452.3(TNFRSF13B):c.361C>T (p.Gln121Ter) rs752897955 0.00001
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala) rs782474624 0.00001
NM_014140.4(SMARCAL1):c.2450G>A (p.Arg817His) rs1172616375 0.00001
NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly) rs766633696 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_015599.3(PGM3):c.86G>A (p.Arg29Gln) rs375717834 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_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_018389.5(SLC35C1):c.997G>A (p.Gly333Ser) rs757642463 0.00001
NM_020207.7(ERCC6L2):c.1097G>A (p.Gly366Asp) rs140078259 0.00001
NM_020964.3(EPG5):c.2107A>G (p.Ile703Val) rs769257326 0.00001
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met) rs201986809 0.00001
NM_021922.3(FANCE):c.104C>T (p.Ala35Val) rs570498238 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1238-1G>C rs1767507722 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.248+1del rs1767163932 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.297del (p.Met99fs) rs754850404 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln) rs777849670 0.00001
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter) rs760150539 0.00001
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu) rs888356659 0.00001
NM_022725.4(FANCF):c.338A>G (p.Gln113Arg) rs757993614 0.00001
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) rs777178622 0.00001
NM_032415.7(CARD11):c.2059G>A (p.Ala687Thr) rs562372731 0.00001
NM_032415.7(CARD11):c.3410A>T (p.Asp1137Val) rs151255440 0.00001
NM_032444.4(SLX4):c.1139G>A (p.Gly380Asp) rs1052888437 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 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_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser) rs777726701 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032638.5(GATA2):c.186C>G (p.Asn62Lys) rs751200779 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_032638.5(GATA2):c.224C>T (p.Ala75Val) rs1559987952 0.00001
NM_032638.5(GATA2):c.297C>G (p.Asp99Glu) rs1411693599 0.00001
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly) rs1161655427 0.00001
NM_032638.5(GATA2):c.487G>A (p.Ala163Thr) rs897072411 0.00001
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala) rs377261969 0.00001
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr) rs1355811506 0.00001
NM_032638.5(GATA2):c.575C>T (p.Ser192Phe) rs773786765 0.00001
NM_032638.5(GATA2):c.593C>T (p.Ala198Val) rs745726293 0.00001
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr) rs375298899 0.00001
NM_032638.5(GATA2):c.698T>C (p.Leu233Pro) rs1377041124 0.00001
NM_032638.5(GATA2):c.707T>C (p.Met236Thr) rs61754578 0.00001
NM_032638.5(GATA2):c.787G>A (p.Gly263Arg) rs587778378 0.00001
NM_032638.5(GATA2):c.815G>A (p.Gly272Glu) rs770511115 0.00001
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr) rs1443864030 0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) rs371962581 0.00001
NM_032977.4(CASP10):c.664A>G (p.Thr222Ala) rs763551197 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 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_080424.4(SP110):c.1448G>A (p.Gly483Glu) rs534248634 0.00001
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter) rs1011767398 0.00001
NM_133459.4(CCBE1):c.274G>A (p.Val92Ile) rs374811948 0.00001
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_144687.4(NLRP12):c.3174C>A (p.Asp1058Glu) rs1690166860 0.00001
NM_144687.4(NLRP12):c.644T>C (p.Met215Thr) rs768852576 0.00001
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val) rs1225418115 0.00001
NM_152564.5(VPS13B):c.10978G>A (p.Gly3660Ser) rs373947421 0.00001
NM_152564.5(VPS13B):c.3335G>A (p.Gly1112Glu) rs1463093451 0.00001
NM_152564.5(VPS13B):c.3583A>G (p.Thr1195Ala) rs1027684992 0.00001
NM_152564.5(VPS13B):c.3667G>A (p.Val1223Ile) rs1820042425 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.5980G>T (p.Asp1994Tyr) rs1563849907 0.00001
NM_152564.5(VPS13B):c.796A>G (p.Ile266Val) rs752505325 0.00001
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00001
NM_181078.3(IL21R):c.1286G>C (p.Gly429Ala) rs764788674 0.00001
NM_182746.3(MCM4):c.2101C>T (p.Arg701Trp) rs767399226 0.00001
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) rs878855299 0.00001
NM_199242.3(UNC13D):c.1135G>A (p.Glu379Lys) rs151047555 0.00001
NM_199242.3(UNC13D):c.2795T>C (p.Leu932Pro) rs760552006 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_203447.4(DOCK8):c.1306C>T (p.Arg436Trp) rs775192218 0.00001
NM_203447.4(DOCK8):c.53+262G>C rs377068395 0.00001
NM_206937.2(LIG4):c.2422T>C (p.Ser808Pro) rs1284344984 0.00001
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
GRCh37/hg19 22q11.21(chr22:18892575-21460220)
GRCh37/hg19 22q11.21(chr22:18900755-21800277)
GRCh37/hg19 22q11.21(chr22:18901004-21408430)
GRCh37/hg19 22q11.21(chr22:18912403-21431174)
GRCh37/hg19 22q11.21(chr22:18912870-21431174)
GRCh37/hg19 22q11.21(chr22:18918741-20311922)
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)
GRCh37/hg19 Xq25(chrX:122970459-123034511)
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs) rs2065317387
NM_000022.4(ADA):c.1078+1G>A
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter) rs1419063255
NM_000022.4(ADA):c.218+1G>T
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.220G>T (p.Gly74Cys) rs121908730
NM_000022.4(ADA):c.293del (p.Val98fs)
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.355dup (p.Gln119fs)
NM_000022.4(ADA):c.362+5_362+8del rs763595926
NM_000022.4(ADA):c.363-1G>T
NM_000022.4(ADA):c.363-2A>T
NM_000022.4(ADA):c.366_367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.407del (p.Gly136fs)
NM_000022.4(ADA):c.410del (p.Leu137fs)
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
NM_000022.4(ADA):c.478+1G>C
NM_000022.4(ADA):c.478+6T>A rs1555844600
NM_000022.4(ADA):c.482G>A (p.Trp161Ter)
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter) rs748810619
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.556G>A (p.Glu186Lys) rs1555844416
NM_000022.4(ADA):c.577dup (p.Leu193fs) rs759445496
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.674_675del (p.Lys225fs)
NM_000022.4(ADA):c.678+2T>C
NM_000022.4(ADA):c.679-2A>G
NM_000022.4(ADA):c.690dup (p.Leu231fs) rs2065346614
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000022.4(ADA):c.760C>T (p.Gln254Ter) rs2065345592
NM_000022.4(ADA):c.781-1G>T
NM_000022.4(ADA):c.790del (p.Trp264fs) rs1555844006
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.815G>A (p.Trp272Ter)
NM_000022.4(ADA):c.845G>T (p.Arg282Leu)
NM_000022.4(ADA):c.854dup (p.Asn285fs) rs2123511347
NM_000022.4(ADA):c.890C>T (p.Pro297Leu) rs121908718
NM_000022.4(ADA):c.906_915delinsTGTTACCAGATTACCAGATG (p.Thr303fs)
NM_000022.4(ADA):c.95+1G>T
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.976-1G>C
NM_000022.4(ADA):c.976-1_979del rs1441174171
NM_000022.4(ADA):c.976-34G>A rs1194494050
NM_000022.4(ADA):c.996_997del (p.Ser333fs) rs2123508053
NM_000051.4(ATM):c.1485A>G (p.Ile495Met) rs1565383283
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.6049dup (p.Ser2017fs) rs797045030
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6452+1G>T rs1565509194
NM_000051.4(ATM):c.8152-1G>A rs1398616877
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr) rs863224590
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)
NM_000065.5(C6):c.107C>A (p.Ser36Ter) rs1329836511
NM_000065.5(C6):c.1628_1629dup (p.Gln544fs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10156del (p.Met3386fs)
NM_000081.4(LYST):c.1019del (p.Ser340fs)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10411dup (p.Glu3471fs)
NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)
NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)
NM_000081.4(LYST):c.1050del (p.Asn352fs)
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
NM_000081.4(LYST):c.10663_10691dup (p.Gln3564delinsHisLeuGlnTer)
NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter)
NM_000081.4(LYST):c.10812del (p.Ile3604fs)
NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter)
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
NM_000081.4(LYST):c.124del (p.Gly43fs)
NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter)
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
NM_000081.4(LYST):c.1868del (p.Gln622_Leu623insTer)
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2063G>A (p.Trp688Ter)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2275del (p.Ser759fs)
NM_000081.4(LYST):c.2341_2342del (p.Leu781fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4006+2T>C
NM_000081.4(LYST):c.4116+1G>A
NM_000081.4(LYST):c.4117-2A>G
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)
NM_000081.4(LYST):c.4529G>C (p.Ser1510Thr)
NM_000081.4(LYST):c.484C>T (p.Gln162Ter)
NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter)
NM_000081.4(LYST):c.4863-1G>C
NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter)
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter)
NM_000081.4(LYST):c.6422C>A (p.Ala2141Asp)
NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)
NM_000081.4(LYST):c.6720_6721del (p.His2240fs)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.6882-1G>T
NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)
NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.7327C>T (p.Leu2443Phe)
NM_000081.4(LYST):c.7781-1G>T
NM_000081.4(LYST):c.8358+2T>G
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter)
NM_000081.4(LYST):c.8613-2A>T
NM_000081.4(LYST):c.8657T>C (p.Ile2886Thr)
NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)
NM_000081.4(LYST):c.8801+1G>A
NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000081.4(LYST):c.9475del (p.Asp3159fs)
NM_000081.4(LYST):c.9620_9621dup (p.Tyr3208fs)
NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)
NM_000081.4(LYST):c.9626del (p.Lys3209fs)
NM_000081.4(LYST):c.9784+1G>T
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.98_105del (p.Glu33fs)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000101.4(CYBA):c.115G>A (p.Gly39Ser) rs1907352298
NM_000101.4(CYBA):c.393G>A (p.Trp131Ter) rs1284271131
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe) rs2068330347
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
NM_000135.4(FANCA):c.1006+1G>A
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1084-1G>T
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter) rs752864343
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
NM_000135.4(FANCA):c.1194del (p.Cys399fs) rs2040090995
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1226-1G>C rs1417768931
NM_000135.4(FANCA):c.1226-2A>C
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
NM_000135.4(FANCA):c.1340C>A (p.Ser447Ter)
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter) rs2039844441
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) rs1266348463
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1471-1G>T rs2039777078
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
NM_000135.4(FANCA):c.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys) rs753719658
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter) rs769047348
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1630del (p.His544fs)
NM_000135.4(FANCA):c.16dup (p.Val6fs)
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
NM_000135.4(FANCA):c.1826+2T>C
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs) rs2041095238
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) rs2039386741
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val) rs986889143
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs) rs2143351554
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer) rs2143711627
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2140C>T (p.Arg714Trp)
NM_000135.4(FANCA):c.2151+1dup rs777971510
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2223-2A>T
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
NM_000135.4(FANCA):c.2265dup (p.Arg756fs) rs2143336220
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) rs751572448
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.2314del (p.Gln772fs)
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2317-1G>T rs1230207719
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr) rs2039267533
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter) rs761469030
NM_000135.4(FANCA):c.2562_2564delinsGA (p.Asp854fs)
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
NM_000135.4(FANCA):c.2685del (p.Leu896fs)
NM_000135.4(FANCA):c.2728_2731del (p.Leu910fs)
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly) rs766643461
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+1G>A rs1232171121
NM_000135.4(FANCA):c.283+2T>C
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.2909C>A (p.Ser970Ter)
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2981+1G>T
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) rs147176389
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer) rs2143139166
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
NM_000135.4(FANCA):c.3217_3218del (p.Arg1073fs)
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter) rs775799529
NM_000135.4(FANCA):c.32del (p.Ser11fs)
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro) rs752837228
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3409-25_3418del
NM_000135.4(FANCA):c.3409-2A>G
NM_000135.4(FANCA):c.3409-3_3417del
NM_000135.4(FANCA):c.3446_3449dup (p.Met1151fs)
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3504_3513+55del
NM_000135.4(FANCA):c.3514-1G>C
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter) rs1390620949
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3626+5G>C rs370801038
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3627-2A>G
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3703C>T (p.Gln1235Ter)
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
NM_000135.4(FANCA):c.3765+1G>A
NM_000135.4(FANCA):c.3765+2C>T rs776827467
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828+1G>T rs1432988639
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs) rs748453841
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3919C>T (p.Gln1307Ter)
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs) rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4010+1G>A rs2062067810
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) rs773113065
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser) rs768733593
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000135.4(FANCA):c.4100_4167+2del
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
NM_000135.4(FANCA):c.4164_4167+13del
NM_000135.4(FANCA):c.4167+1G>A
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.4168-4C>T rs775180524
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)
NM_000135.4(FANCA):c.4257_4260+16delinsTTCTCA
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter) rs984285795
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+1dup rs1555532944
NM_000135.4(FANCA):c.4261-19_4261-12del rs1567591276
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa) rs2062027006
NM_000135.4(FANCA):c.427-1G>A
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter) rs774448881
NM_000135.4(FANCA):c.50del (p.Gly17fs) rs748624754
NM_000135.4(FANCA):c.522+2T>G
NM_000135.4(FANCA):c.523-1del
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.598del (p.His200fs)
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
NM_000135.4(FANCA):c.709+1G>A rs753211631
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.734_756delinsA (p.Arg245fs)
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) rs1353992080
NM_000135.4(FANCA):c.792+1G>C
NM_000135.4(FANCA):c.793-2A>T
NM_000135.4(FANCA):c.80-2A>G
NM_000135.4(FANCA):c.80-99_105del
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000135.4(FANCA):c.832dup (p.Leu278fs)
NM_000135.4(FANCA):c.83del (p.Gly28fs)
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.891_893+1del rs2040352874
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg) rs1467900630
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.94del (p.Arg32fs)
NM_000135.4(FANCA):c.976C>T (p.Gln326Ter)
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1043_1044del (p.Leu348fs) rs1064795597
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1072+2T>A
NM_000136.3(FANCC):c.1073-2A>G
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1154+1del
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.1228del (p.Gln410fs)
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
NM_000136.3(FANCC):c.1297del (p.Arg433fs)
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
NM_000136.3(FANCC):c.1329+115C>T rs2071912393
NM_000136.3(FANCC):c.1329+1del
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs) rs2134456127
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1430_1431del (p.Thr477fs) rs1588029220
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
NM_000136.3(FANCC):c.1533+1G>T rs753885687
NM_000136.3(FANCC):c.163del (p.Met55fs)
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.169del (p.Ser57fs)
NM_000136.3(FANCC):c.177_178del (p.Val60fs)
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.227G>A (p.Trp76Ter) rs1189888124
NM_000136.3(FANCC):c.265dup (p.Ile89fs)
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter) rs1830584796
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>C
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.357_358del (p.His120fs) rs1588220764
NM_000136.3(FANCC):c.362_363del (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp) rs1419677503
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.457-2A>G
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.507del (p.Phe169fs) rs1588218493
NM_000136.3(FANCC):c.547del (p.Leu183fs)
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe) rs1269365165
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.705del (p.Met236fs) rs2135168243
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter) rs1588134571
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.844-1G>A
NM_000136.3(FANCC):c.883dup (p.Asp295fs) rs1826007748
NM_000136.3(FANCC):c.897-1G>A rs1588101086
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107
NM_000136.3(FANCC):c.907del (p.Leu303fs)
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter) rs1825775052
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_000204.5(CFI):c.227C>G (p.Ala76Gly) rs1010351654
NM_000206.3(IL2RG):c.269+1G>T rs2092262300
NM_000215.4(JAK3):c.2652C>T (p.Val884=) rs2094216237
NM_000215.4(JAK3):c.913C>T (p.Gln305Ter) rs786205517
NM_000215.4(JAK3):c.971A>T (p.Asp324Val) rs1291046706
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1588-2A>G
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000246.4(CIITA):c.1552G>C (p.Ala518Pro) rs866050153
NM_000246.4(CIITA):c.2377C>G (p.Leu793Val) rs34082539
NM_000246.4(CIITA):c.2858C>G (p.Ala953Gly) rs867193240
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000250.2(MPO):c.402G>A (p.Trp134Ter)
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs) rs4029402
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro) rs1567965313
NM_000271.5(NPC1):c.2297T>A (p.Leu766Ter) rs2058711607
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.374G>A (p.Gly125Glu) rs1557006534
NM_000417.3(IL2RA):c.76G>C (p.Asp26His) rs55868253
NM_000418.4(IL4R):c.134A>G (p.Glu45Gly)
NM_000448.3(RAG1):c.1137del (p.His379fs)
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln) rs1850805503
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1219C>T (p.Gln407Ter)
NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser) rs568838996
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.3(RAG1):c.1366del (p.Ala456fs)
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter)
NM_000448.3(RAG1):c.1583dup (p.Asn528fs)
NM_000448.3(RAG1):c.160G>T (p.Glu54Ter)
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs) rs749256215
NM_000448.3(RAG1):c.1690_1691del (p.Ala565fs)
NM_000448.3(RAG1):c.181C>T (p.Gln61Ter)
NM_000448.3(RAG1):c.206del (p.Ala69fs)
NM_000448.3(RAG1):c.2143del (p.Val715fs)
NM_000448.3(RAG1):c.2147G>A (p.Arg716Gln) rs1064793248
NM_000448.3(RAG1):c.2182T>C (p.Tyr728His) rs1564989655
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter) rs1850830824
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
NM_000448.3(RAG1):c.2258A>G (p.His753Arg)
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) rs104894282
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
NM_000448.3(RAG1):c.2449del (p.Glu817fs)
NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer) rs1850837839
NM_000448.3(RAG1):c.2497C>T (p.Gln833Ter)
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.2615T>A (p.Leu872Ter)
NM_000448.3(RAG1):c.2623del (p.Ser875fs)
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000448.3(RAG1):c.2803del (p.Ile935fs)
NM_000448.3(RAG1):c.2850del (p.Ile950fs) rs2133298263
NM_000448.3(RAG1):c.2918G>A (p.Arg973His)
NM_000448.3(RAG1):c.2988G>T (p.Leu996Phe) rs1388654836
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs) rs1564990390
NM_000448.3(RAG1):c.365A>T (p.Glu122Val) rs1266530796
NM_000448.3(RAG1):c.371del (p.Asn124fs)
NM_000448.3(RAG1):c.418_419del (p.Leu140fs)
NM_000448.3(RAG1):c.519del (p.Glu174fs) rs1241698978
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter)
NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs)
NM_000448.3(RAG1):c.691C>T (p.Gln231Ter)
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs)
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000448.3(RAG1):c.820dup (p.Leu274fs)
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter) rs568867325
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000536.4(RAG2):c.1038T>A (p.Tyr346Ter)
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.110C>T (p.Pro37Leu) rs1851104914
NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1274_1280dup (p.Asn428fs)
NM_000536.4(RAG2):c.1295C>T (p.Pro432Leu) rs753677011
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter) rs1440633758
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) rs1564995662
NM_000536.4(RAG2):c.1336T>A (p.Cys446Ser) rs1851050839
NM_000536.4(RAG2):c.133_146del (p.Val45fs)
NM_000536.4(RAG2):c.1403_1404dup (p.Leu469fs) rs2133311139
NM_000536.4(RAG2):c.1403_1406del (p.His468fs) rs786205616
NM_000536.4(RAG2):c.171del (p.Lys58fs)
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574
NM_000536.4(RAG2):c.356del (p.Lys119fs)
NM_000536.4(RAG2):c.385_389del (p.Leu129fs) rs1164927451
NM_000536.4(RAG2):c.41T>A (p.Leu14Ter)
NM_000536.4(RAG2):c.43del (p.Ile15fs)
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)
NM_000536.4(RAG2):c.535dup (p.Leu179fs)
NM_000536.4(RAG2):c.548dup (p.Leu184fs)
NM_000536.4(RAG2):c.683del (p.Ile228fs)
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro) rs121917894
NM_000536.4(RAG2):c.724dup (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000536.4(RAG2):c.831T>A (p.Tyr277Ter)
NM_000536.4(RAG2):c.924_930dup (p.Ile311fs)
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)
NM_000536.4(RAG2):c.951del (p.Trp317fs)
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000538.4(RFXAP):c.2T>C (p.Met1Thr) rs2057953200
NM_000538.4(RFXAP):c.419C>T (p.Thr140Ile) rs2057955904
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter) rs1470998208
NM_000543.5(SMPD1):c.106dup (p.Val36fs) rs1590735238
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) rs1590735307
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
NM_000543.5(SMPD1):c.1101del (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) rs1422720020
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
NM_000543.5(SMPD1):c.1263+1G>A rs2134018090
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1264-2A>G rs774309925
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1280_1286del (p.His427fs)
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.1340+2T>C
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys) rs2134019797
NM_000543.5(SMPD1):c.1341-21_1341-18del
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs) rs748411156
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser) rs267607074
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1431del (p.Leu478fs)
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs) rs1057516949
NM_000543.5(SMPD1):c.1543del (p.Asp515fs)
NM_000543.5(SMPD1):c.1565A>G (p.Asn522Ser)
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1605G>A (p.Trp535Ter)
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs) rs1554935600
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter) rs2134006149
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
NM_000543.5(SMPD1):c.175del (p.Ala59fs) rs2134006179
NM_000543.5(SMPD1):c.1771del (p.Arg591fs)
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs) rs1437508852
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs) rs1057516403
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
NM_000543.5(SMPD1):c.273C>G (p.Cys91Trp) rs1847877445
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000543.5(SMPD1):c.319-2A>G
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
NM_000543.5(SMPD1):c.39del (p.Arg14fs) rs2134004594
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter) rs1554934193
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.596_597del (p.Pro199fs)
NM_000543.5(SMPD1):c.597del (p.Val200fs)
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter) rs1554933751
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter) rs120074122
NM_000543.5(SMPD1):c.735C>G (p.Tyr245Ter)
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp) rs1590739350
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter) rs200763423
NM_000543.5(SMPD1):c.766dup (p.Leu256fs) rs1018556947
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.7del (p.Arg3fs) rs281860663
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala) rs1847935299
NM_000543.5(SMPD1):c.842_849dup (p.His284fs) rs281860677
NM_000543.5(SMPD1):c.84del (p.Gly29fs) rs750157176
NM_000543.5(SMPD1):c.867del (p.Thr290fs)
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.874C>T (p.Gln292Ter)
NM_000543.5(SMPD1):c.945C>A (p.Tyr315Ter)
NM_000543.5(SMPD1):c.950del (p.Ala317fs)
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter) rs1554933780
NM_000543.5(SMPD1):c.963del (p.His321fs)
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000545.8(HNF1A):c.1609A>G (p.Thr537Ala)
NM_000546.6(TP53):c.869G>T (p.Arg290Leu) rs55819519
NM_000551.4(VHL):c.-89_-51del
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_000551.4(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.4(VHL):c.112_156dup (p.Ser38_Glu52dup) rs1575921303
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3]) rs863224839
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.130G>T (p.Gly44Cys)
NM_000551.4(VHL):c.13G>A (p.Ala5Thr)
NM_000551.4(VHL):c.151GAG[2] (p.Glu53del)
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.165G>T (p.Glu55Asp)
NM_000551.4(VHL):c.169G>T (p.Gly57Trp) rs1064795194
NM_000551.4(VHL):c.185T>C (p.Val62Ala) rs1696127941
NM_000551.4(VHL):c.191G>A (p.Arg64His) rs104893826
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.218A>G (p.Gln73Arg) rs1295818809
NM_000551.4(VHL):c.219G>C (p.Gln73His) rs1575921862
NM_000551.4(VHL):c.229T>C (p.Cys77Arg) rs1269136170
NM_000551.4(VHL):c.230G>T (p.Cys77Phe)
NM_000551.4(VHL):c.253C>G (p.Leu85Val) rs1422271977
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.269A>G (p.Asn90Ser) rs143985153
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.29A>T (p.Glu10Val) rs786204065
NM_000551.4(VHL):c.305C>G (p.Pro102Arg)
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu) rs1696115662
NM_000551.4(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.4(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.4(VHL):c.431G>A (p.Gly144Glu) rs2125128440
NM_000551.4(VHL):c.434A>G (p.Gln145Arg)
NM_000551.4(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.461C>G (p.Pro154Arg) rs1399097617
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.503G>A (p.Ser168Asn)
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.4(VHL):c.513G>C (p.Lys171Asn) rs1365445365
NM_000551.4(VHL):c.51G>T (p.Glu17Asp) rs2125124538
NM_000551.4(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.4(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.4(VHL):c.574C>A (p.Pro192Thr) rs28940300
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.4(VHL):c.596A>G (p.Glu199Gly) rs760690217
NM_000551.4(VHL):c.5C>G (p.Pro2Arg) rs111246617
NM_000551.4(VHL):c.613C>G (p.Arg205Gly) rs199926195
NM_000551.4(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.4(VHL):c.616A>G (p.Ile206Val)
NM_000551.4(VHL):c.622C>G (p.His208Asp)
NM_000551.4(VHL):c.62A>C (p.Glu21Ala) rs1060503548
NM_000551.4(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.4(VHL):c.80A>C (p.Glu27Ala)
NM_000551.4(VHL):c.85G>T (p.Gly29Cys)
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.4(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup) rs1236159514
NM_000562.3(C8A):c.1152T>A (p.Tyr384Ter)
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000593.6(TAP1):c.887G>A (p.Ser296Asn)
NM_000628.5(IL10RB):c.298T>G (p.Trp100Gly) rs868604197
NM_000628.5(IL10RB):c.331+1G>C rs1989179205
NM_000733.4(CD3E):c.221A>C (p.Asn74Thr) rs1948142751
NM_000760.4(CSF3R):c.843+2T>C rs1650834071
NM_001006658.3(CR2):c.2942A>T (p.Gln981Leu) rs1658484718
NM_001006658.3(CR2):c.982G>C (p.Asp328His) rs1658214194
NM_001012339.3(DNAJC21):c.1015C>T (p.Arg339Trp) rs368712421
NM_001012339.3(DNAJC21):c.1224dup (p.Gly409fs) rs765411726
NM_001013838.3(CARMIL2):c.1681C>T (p.Arg561Trp)
NM_001013838.3(CARMIL2):c.3444TGG[1] (p.Gly1150del)
NM_001013838.3(CARMIL2):c.3827G>A (p.Arg1276Lys) rs779323055
NM_001013838.3(CARMIL2):c.745G>A (p.Glu249Lys) rs2052613710
NM_001014989.2(LAT):c.52dup (p.Ala18fs) rs749637413
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) rs776802337
NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter)
NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) rs2092364017
NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
NM_001018115.3(FANCD2):c.1042del (p.Asp348fs)
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
NM_001018115.3(FANCD2):c.1068T>A (p.Tyr356Ter) rs531943246
NM_001018115.3(FANCD2):c.1135-1G>C
NM_001018115.3(FANCD2):c.1243C>T (p.Gln415Ter)
NM_001018115.3(FANCD2):c.1279-2A>C
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
NM_001018115.3(FANCD2):c.1345A>G (p.Ser449Gly) rs2087075324
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
NM_001018115.3(FANCD2):c.141C>G (p.Ile47Met)
NM_001018115.3(FANCD2):c.1545+1G>T
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
NM_001018115.3(FANCD2):c.1710C>G (p.Tyr570Ter)
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs) rs757567225
NM_001018115.3(FANCD2):c.188_191del (p.Glu63fs)
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
NM_001018115.3(FANCD2):c.1948-2A>G
NM_001018115.3(FANCD2):c.1956del (p.His654fs)
NM_001018115.3(FANCD2):c.2021+1G>T
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
NM_001018115.3(FANCD2):c.206-1G>T rs2124974541
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
NM_001018115.3(FANCD2):c.2169-1G>C rs141783465
NM_001018115.3(FANCD2):c.2217_2218del (p.Val741fs)
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
NM_001018115.3(FANCD2):c.2269+1G>A
NM_001018115.3(FANCD2):c.2477del (p.Leu826fs)
NM_001018115.3(FANCD2):c.2497dup (p.Thr833fs)
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)
NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs) rs762544228
NM_001018115.3(FANCD2):c.2672C>A (p.Ser891Ter)
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
NM_001018115.3(FANCD2):c.268C>A (p.Pro90Thr)
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001018115.3(FANCD2):c.2777G>T (p.Arg926Leu) rs532250395
NM_001018115.3(FANCD2):c.2837del (p.Ile945_Leu946insTer)
NM_001018115.3(FANCD2):c.2860-2A>G
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
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.3224+1G>T rs1468320596
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
NM_001018115.3(FANCD2):c.3238C>T (p.Gln1080Ter)
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
NM_001018115.3(FANCD2):c.3289C>T (p.Arg1097Ter)
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
NM_001018115.3(FANCD2):c.3313C>T (p.Gln1105Ter)
NM_001018115.3(FANCD2):c.3335+1G>A
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs) rs2125072480
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.3466+1G>A
NM_001018115.3(FANCD2):c.3467-2A>G
NM_001018115.3(FANCD2):c.3560+1G>A
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val) rs2086517367
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001018115.3(FANCD2):c.377+2T>C
NM_001018115.3(FANCD2):c.3776A>T (p.Gln1259Leu) rs1486214768
NM_001018115.3(FANCD2):c.378-1G>C
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001018115.3(FANCD2):c.3889-2A>G
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
NM_001018115.3(FANCD2):c.3922C>T (p.Gln1308Ter) rs148471911
NM_001018115.3(FANCD2):c.3952A>T (p.Arg1318Ter)
NM_001018115.3(FANCD2):c.4045C>T (p.Gln1349Ter)
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
NM_001018115.3(FANCD2):c.4186-2A>G
NM_001018115.3(FANCD2):c.458T>G (p.Leu153Ter)
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter) rs2086805219
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
NM_001018115.3(FANCD2):c.64+2T>G rs2124961184
NM_001018115.3(FANCD2):c.65-2A>G
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
NM_001018115.3(FANCD2):c.695+2T>G
NM_001018115.3(FANCD2):c.708dup (p.Glu237fs)
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter) rs1223055462
NM_001018115.3(FANCD2):c.990-2A>G
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
NM_001033855.3(DCLRE1C):c.1106dup (p.Tyr369Ter)
NM_001033855.3(DCLRE1C):c.1156+1G>A
NM_001033855.3(DCLRE1C):c.1159_1184dup (p.Asp395fs)
NM_001033855.3(DCLRE1C):c.1176_1179del (p.Phe393fs)
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs)
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs) rs2131776743
NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)
NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs) rs1588893751
NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter)
NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs) rs767758218
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
NM_001033855.3(DCLRE1C):c.1706dup (p.Asp569fs)
NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)
NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter)
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)
NM_001033855.3(DCLRE1C):c.1808_1809del (p.Tyr602_Ser603insTer)
NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
NM_001033855.3(DCLRE1C):c.1978_1981dup (p.Leu661Ter)
NM_001033855.3(DCLRE1C):c.246+2T>G
NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)
NM_001033855.3(DCLRE1C):c.306+1G>A
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.310_313del rs2130974126
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter) rs1839957089
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs) rs1404214090
NM_001033855.3(DCLRE1C):c.464+2T>C
NM_001033855.3(DCLRE1C):c.465-2A>C rs1839625956
NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs)
NM_001033855.3(DCLRE1C):c.538-1G>A
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158
NM_001033855.3(DCLRE1C):c.595_596dup (p.His200fs)
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs) rs1407251815
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)
NM_001033855.3(DCLRE1C):c.678+1G>A
NM_001033855.3(DCLRE1C):c.678+2T>G
NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter) rs1346260747
NM_001033855.3(DCLRE1C):c.879G>A (p.Trp293Ter)
NM_001033855.3(DCLRE1C):c.928_929dup (p.Ser310fs)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001033855.3(DCLRE1C):c.973-1G>A
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met) rs2143873647
NM_001042492.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1062+1G>A rs1597681200
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1082del (p.Ser361fs)
NM_001042492.3(NF1):c.110A>C (p.Glu37Ala)
NM_001042492.3(NF1):c.1120del (p.Asp374fs)
NM_001042492.3(NF1):c.1156_1158delinsTT (p.Ile386fs)
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
NM_001042492.3(NF1):c.1221C>G (p.His407Gln)
NM_001042492.3(NF1):c.1255A>G (p.Thr419Ala)
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser) rs1555611107
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser) rs786202145
NM_001042492.3(NF1):c.1284G>T (p.Lys428Asn)
NM_001042492.3(NF1):c.1310T>A (p.Val437Asp) rs876658642
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala) rs876658642
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser) rs370020114
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu) rs2066621372
NM_001042492.3(NF1):c.1356del (p.Gly453fs)
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr) rs983914251
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.3(NF1):c.1371C>A (p.His457Gln) rs1318894606
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1392+5G>A rs199999754
NM_001042492.3(NF1):c.1396C>T (p.Leu466Phe)
NM_001042492.3(NF1):c.146del (p.Tyr49fs)
NM_001042492.3(NF1):c.1526G>A (p.Cys509Tyr) rs1597698521
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg) rs775369084
NM_001042492.3(NF1):c.1555del (p.Gln519fs) rs2066874267
NM_001042492.3(NF1):c.1562G>T (p.Ser521Ile)
NM_001042492.3(NF1):c.1564dup (p.Thr522fs) rs2066874810
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser) rs1555612858
NM_001042492.3(NF1):c.1607C>T (p.Ser536Leu) rs1555612859
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val) rs876660632
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
NM_001042492.3(NF1):c.1636A>G (p.Met546Val) rs2066877456
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn) rs2144004244
NM_001042492.3(NF1):c.1687C>T (p.Pro563Ser) rs2066928705
NM_001042492.3(NF1):c.1699G>A (p.Val567Ile) rs1555613200
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1722-13T>G
NM_001042492.3(NF1):c.1729del (p.Met577fs)
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_001042492.3(NF1):c.1776del (p.Ser592fs)
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1845+1G>A rs1567845945
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser) rs1597710397
NM_001042492.3(NF1):c.1876del (p.Leu626fs) rs1597710409
NM_001042492.3(NF1):c.1882_1884delinsAA (p.Tyr628fs)
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu) rs876660272
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr) rs1567846698
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile) rs1555613573
NM_001042492.3(NF1):c.1940A>C (p.His647Pro) rs1170252879
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg) rs2066993430
NM_001042492.3(NF1):c.1997_1998del (p.Ser666fs)
NM_001042492.3(NF1):c.2001+4A>G
NM_001042492.3(NF1):c.2001+5G>T rs2144028091
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile) rs1597710853
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly) rs760900648
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2057A>T (p.Lys686Ile)
NM_001042492.3(NF1):c.2100dup (p.Glu701Ter)
NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)
NM_001042492.3(NF1):c.2186A>C (p.His729Pro)
NM_001042492.3(NF1):c.2188A>C (p.Asn730His) rs758893131
NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)
NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)
NM_001042492.3(NF1):c.2206A>C (p.Asn736His) rs1567847621
NM_001042492.3(NF1):c.2218G>C (p.Glu740Gln)
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp) rs2151426135
NM_001042492.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_001042492.3(NF1):c.2252-2A>C rs1131691105
NM_001042492.3(NF1):c.2276_2291del (p.Val759fs)
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2294del (p.Arg765fs) rs2151426934
NM_001042492.3(NF1):c.2325+1G>C
NM_001042492.3(NF1):c.2326-5T>G
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
NM_001042492.3(NF1):c.2410-12T>G rs876657932
NM_001042492.3(NF1):c.2410-5T>A rs2151428754
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer) rs771115661
NM_001042492.3(NF1):c.2457T>A (p.His819Gln)
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)
NM_001042492.3(NF1):c.2518A>G (p.Met840Val) rs779931789
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)
NM_001042492.3(NF1):c.2576del (p.Gly859fs)
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu) rs1555614266
NM_001042492.3(NF1):c.2641A>G (p.Met881Val) rs1060500263
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr) rs771012891
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu) rs1060500256
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_001042492.3(NF1):c.2682del (p.Phe894fs)
NM_001042492.3(NF1):c.2707G>A (p.Val903Met)
NM_001042492.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val) rs2067073386
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_001042492.3(NF1):c.2839T>A (p.Ser947Thr) rs1567849219
NM_001042492.3(NF1):c.2842del (p.Gln948fs) rs1555614354
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
NM_001042492.3(NF1):c.2850+1G>C
NM_001042492.3(NF1):c.2851-1G>C rs1597716274
NM_001042492.3(NF1):c.2851-3del rs876660379
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser) rs1323973848
NM_001042492.3(NF1):c.288+6T>A
NM_001042492.3(NF1):c.289-2A>G rs2143670119
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
NM_001042492.3(NF1):c.2952del (p.Gln985fs) rs1555614453
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys) rs1555614496
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr) rs1555614504
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile) rs2151431668
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly) rs1555614631
NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr) rs1367746167
NM_001042492.3(NF1):c.3198-330A>G
NM_001042492.3(NF1):c.319dup (p.Thr107fs)
NM_001042492.3(NF1):c.3200A>G (p.Asp1067Gly) rs746785904
NM_001042492.3(NF1):c.320C>T (p.Thr107Met) rs1567817857
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
NM_001042492.3(NF1):c.3314+2T>G rs863224445
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp) rs1341314304
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3484A>C (p.Met1162Leu)
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly) rs1555615017
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile) rs1555615024
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys) rs1567851424
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val) rs1060500340
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
NM_001042492.3(NF1):c.3682del (p.Ala1228fs)
NM_001042492.3(NF1):c.3685A>T (p.Asn1229Tyr) rs1555615102
NM_001042492.3(NF1):c.3686_3690del (p.Asn1229fs)
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly) rs137854562
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys) rs876659418
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463
NM_001042492.3(NF1):c.3788AAG[1] (p.Glu1264del)
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu) rs746583007
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter) rs2067188361
NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_001042492.3(NF1):c.3878del (p.Gly1293fs)
NM_001042492.3(NF1):c.3884C>T (p.Thr1295Ile) rs2151438517
NM_001042492.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met) rs876660805
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala) rs1555615562
NM_001042492.3(NF1):c.3978A>T (p.Leu1326Phe) rs876660506
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_001042492.3(NF1):c.4005C>G (p.Asn1335Lys) rs2067448469
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser) rs1555617359
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr) rs745931495
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
NM_001042492.3(NF1):c.4174G>A (p.Val1392Met) rs1597744525
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His) rs1355988609
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly) rs1060500310
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.4226T>C (p.Met1409Thr) rs1555618508
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)
NM_001042492.3(NF1):c.4253T>C (p.Ile1418Thr)
NM_001042492.3(NF1):c.4256T>C (p.Val1419Ala)
NM_001042492.3(NF1):c.4312G>T (p.Gly1438Cys) rs1555618559
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp) rs1567862071
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg) rs199474781
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) rs786204157
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr) rs2151462979
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu) rs199474755
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe) rs199474755
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4415T>C (p.Phe1472Ser)
NM_001042492.3(NF1):c.4455T>G (p.Asp1485Glu)
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser) rs1265291141
NM_001042492.3(NF1):c.4469A>G (p.Asp1490Gly) rs2067663471
NM_001042492.3(NF1):c.4486C>A (p.Leu1496Ile)
NM_001042492.3(NF1):c.449del (p.Phe150fs) rs1567817974
NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837
NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys) rs878853897
NM_001042492.3(NF1):c.454_458del (p.Ala152fs)
NM_001042492.3(NF1):c.4557G>T (p.Gly1519=)
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg) rs1597747170
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp) rs1555618861
NM_001042492.3(NF1):c.4578-1G>A rs1555618999
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
NM_001042492.3(NF1):c.469A>G (p.Ile157Val) rs1555606118
NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)
NM_001042492.3(NF1):c.4781A>G (p.Tyr1594Cys) rs1060500303
NM_001042492.3(NF1):c.479+5G>A rs1567818033
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.480-2746A>G
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln) rs876659197
NM_001042492.3(NF1):c.4834A>G (p.Arg1612Gly) rs755137259
NM_001042492.3(NF1):c.4835+1G>T rs1085307819
NM_001042492.3(NF1):c.4836-2A>G
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser) rs1466167635
NM_001042492.3(NF1):c.4903del (p.Tyr1635fs)
NM_001042492.3(NF1):c.4927G>A (p.Val1643Met) rs1060500381
NM_001042492.3(NF1):c.4942A>T (p.Thr1648Ser) rs770558820
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter) rs2151538007
NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe) rs1555594471
NM_001042492.3(NF1):c.5029del (p.Val1677fs)
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5032T>C (p.Tyr1678His) rs786203241
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln) rs1555533367
NM_001042492.3(NF1):c.5125A>T (p.Ile1709Leu)
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr) rs767469374
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter) rs766727694
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val) rs876658602
NM_001042492.3(NF1):c.520G>A (p.Val174Ile) rs1555607084
NM_001042492.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_001042492.3(NF1):c.5223del (p.His1741fs)
NM_001042492.3(NF1):c.5234A>T (p.Lys1745Met)
NM_001042492.3(NF1):c.5250C>G (p.Asp1750Glu)
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.5269-38A>G rs2151540615
NM_001042492.3(NF1):c.5296del (p.Ser1766fs)
NM_001042492.3(NF1):c.5297del (p.Thr1765_Ser1766insTer)
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr) rs529905904
NM_001042492.3(NF1):c.5325A>T (p.Gln1775His)
NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter) rs1597831990
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5434T>C (p.Phe1812Leu) rs2069380487
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr) rs1555533589
NM_001042492.3(NF1):c.5479A>G (p.Ile1827Val) rs1299780528
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln) rs876660298
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter) rs786202177
NM_001042492.3(NF1):c.5524C>A (p.His1842Asn)
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe) rs1567612641
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5615C>T (p.Ala1872Val)
NM_001042492.3(NF1):c.5629_5630del (p.Leu1877fs) rs2069448326
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.5657T>G (p.Leu1886Ter)
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val) rs1465309384
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
NM_001042492.3(NF1):c.5812+2T>G rs1555533887
NM_001042492.3(NF1):c.5812+489C>G
NM_001042492.3(NF1):c.5813-1042A>G
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val) rs775480099
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.6101C>T (p.Thr2034Ile) rs1567616695
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val) rs1555534614
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_001042492.3(NF1):c.6179_6183del (p.Lys2060fs)
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
NM_001042492.3(NF1):c.6229G>A (p.Asp2077Asn) rs1597842830
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6275del (p.Asn2092fs) rs1555534697
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu) rs876660000
NM_001042492.3(NF1):c.632C>T (p.Ala211Val) rs1555608675
NM_001042492.3(NF1):c.6355dup (p.Arg2119fs)
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro) rs2069690617
NM_001042492.3(NF1):c.650A>G (p.Glu217Gly)
NM_001042492.3(NF1):c.6512dup (p.Ser2172fs)
NM_001042492.3(NF1):c.654+1G>T rs1060500245
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn) rs1597843887
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642+2T>C rs2069709336
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe) rs1567617669
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr) rs2069718829
NM_001042492.3(NF1):c.6705-1G>C rs1060500356
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_001042492.3(NF1):c.6819+2T>C rs1135402894
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter) rs2066138676
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
NM_001042492.3(NF1):c.6921+1G>T rs1060500355
NM_001042492.3(NF1):c.6922-1G>A
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val) rs1044698498
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu) rs1597847958
NM_001042492.3(NF1):c.6958G>T (p.Val2320Leu)
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser) rs587781428
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter) rs2069793099
NM_001042492.3(NF1):c.7024C>G (p.Leu2342Val)
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr) rs781578248
NM_001042492.3(NF1):c.702_708del (p.Tyr235fs) rs2066139158
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys) rs2069794814
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del) rs786203558
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val) rs1022562410
NM_001042492.3(NF1):c.7145del (p.Phe2382fs) rs2151565168
NM_001042492.3(NF1):c.7153A>C (p.Asn2385His)
NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter) rs1597851420
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
NM_001042492.3(NF1):c.718A>G (p.Thr240Ala)
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter) rs2070073649
NM_001042492.3(NF1):c.7232G>C (p.Arg2411Thr)
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7270A>G (p.Arg2424Gly)
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala) rs1597858568
NM_001042492.3(NF1):c.730+7A>G
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs) rs1597858594
NM_001042492.3(NF1):c.731-1G>C rs1555608928
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr) rs768404575
NM_001042492.3(NF1):c.7386_7387insA (p.Leu2463fs)
NM_001042492.3(NF1):c.7387_7388dup (p.Thr2464fs)
NM_001042492.3(NF1):c.7387del (p.Thr2464fs)
NM_001042492.3(NF1):c.7391C>A (p.Thr2464Asn)
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile) rs876660126
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser) rs876658722
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val) rs786202540
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser) rs1291550449
NM_001042492.3(NF1):c.7458-2A>G
NM_001042492.3(NF1):c.7465A>G (p.Lys2489Glu) rs1555536338
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg) rs864622249
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser) rs2070167112
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu) rs1555536347
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp) rs375176282
NM_001042492.3(NF1):c.7499C>A (p.Ser2500Tyr) rs2070168165
NM_001042492.3(NF1):c.750dup (p.Asp251Ter)
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro) rs786202955
NM_001042492.3(NF1):c.7543A>G (p.Ser2515Gly) rs2070170553
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7555A>G (p.Arg2519Gly)
NM_001042492.3(NF1):c.757G>C (p.Val253Leu) rs786203607
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
NM_001042492.3(NF1):c.7751T>G (p.Ile2584Ser) rs1597866331
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.3(NF1):c.7777_7778del (p.Leu2593fs)
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu) rs774781617
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser) rs2151582358
NM_001042492.3(NF1):c.7825G>C (p.Val2609Leu) rs786203848
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln) rs750972729
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn) rs1555536710
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu) rs1555536713
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val) rs1555536721
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr) rs1597866802
NM_001042492.3(NF1):c.7894_7895del (p.Thr2631_Asp2632insTer)
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly) rs1597866846
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7926C>A (p.Tyr2642Ter)
NM_001042492.3(NF1):c.7954A>G (p.Lys2652Glu)
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr) rs587781791
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met) rs2070326229
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs) rs1060500387
NM_001042492.3(NF1):c.8080T>A (p.Ser2694Thr) rs876658554
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu) rs2070328290
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)
NM_001042492.3(NF1):c.8136G>A (p.Trp2712Ter)
NM_001042492.3(NF1):c.8143G>A (p.Ala2715Thr) rs2070340047
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val) rs760973918
NM_001042492.3(NF1):c.8194del (p.Val2732fs)
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met) rs144178015
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp) rs878853919
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala) rs374004608
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe) rs1567628713
NM_001042492.3(NF1):c.8393A>G (p.Asn2798Ser) rs1555538515
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala) rs779180729
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln) rs1326795798
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg) rs1597883056
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
NM_001042492.3(NF1):c.8449T>G (p.Ser2817Ala)
NM_001042492.3(NF1):c.8452G>T (p.Ala2818Ser) rs771006452
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly) rs878853921
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.3(NF1):c.862_868dup (p.Asp290delinsGlyGlyTer)
NM_001042492.3(NF1):c.888+652G>A
NM_001042492.3(NF1):c.889-21C>A rs753797445
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln) rs786202384
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn) rs2066505718
NM_001042492.3(NF1):c.905G>A (p.Ser302Asn) rs786202746
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.914A>G (p.Lys305Arg)
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.928C>T (p.His310Tyr) rs1597680837
NM_001042492.3(NF1):c.92A>C (p.His31Pro)
NM_001042492.3(NF1):c.952_953del (p.Glu318fs) rs2066507116
NM_001042492.3(NF1):c.952del (p.Glu318fs) rs1555610881
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.966dup (p.Ala323fs)
NM_001042492.3(NF1):c.967G>A (p.Ala323Thr) rs2143873082
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg) rs1555604887
NM_001083116.3(PRF1):c.1385C>A (p.Ser462Ter) rs1564723653
NM_001083116.3(PRF1):c.1528T>C (p.Cys510Arg) rs1848154937
NM_001083116.3(PRF1):c.1A>G (p.Met1Val) rs1848222357
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_001085487.3(MYSM1):c.1146_1149del (p.Asp382fs)
NM_001085487.3(MYSM1):c.1885C>T (p.Gln629Ter) rs1644486654
NM_001111.5(ADAR):c.2560A>T (p.Thr854Ser) rs1697011861
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.578C>T (p.Pro193Leu) rs1697917766
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
NM_001113378.2(FANCI):c.1055del (p.Asn352fs)
NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala) rs2053319905
NM_001113378.2(FANCI):c.1112+2T>C
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
NM_001113378.2(FANCI):c.1293+1G>T
NM_001113378.2(FANCI):c.1382-5T>C rs2151549574
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.1584-1G>A
NM_001113378.2(FANCI):c.1584-1G>C
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
NM_001113378.2(FANCI):c.165del (p.Cys56fs)
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
NM_001113378.2(FANCI):c.1698+1G>A
NM_001113378.2(FANCI):c.1699-2A>C
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
NM_001113378.2(FANCI):c.1890+1G>T
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
NM_001113378.2(FANCI):c.1939T>A (p.Leu647Ile)
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
NM_001113378.2(FANCI):c.2291+2T>A rs1400441798
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2340del (p.Lys780fs)
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
NM_001113378.2(FANCI):c.2456+1G>A
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
NM_001113378.2(FANCI):c.2637-1G>T
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs) rs745893292
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.2804-2A>G
NM_001113378.2(FANCI):c.2804-2A>T
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs) rs2054482551
NM_001113378.2(FANCI):c.2889+1G>A
NM_001113378.2(FANCI):c.289-2A>G
NM_001113378.2(FANCI):c.2890-2A>C
NM_001113378.2(FANCI):c.2907_2908del (p.Leu969fs)
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
NM_001113378.2(FANCI):c.3007-1G>C
NM_001113378.2(FANCI):c.3007-1G>T
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs) rs907106559
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3200_3201insCCAC (p.Glu1067fs)
NM_001113378.2(FANCI):c.3255+1G>C rs779079622
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
NM_001113378.2(FANCI):c.3430T>C (p.Phe1144Leu)
NM_001113378.2(FANCI):c.3492_3493delinsT (p.Lys1164fs)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.349A>G (p.Arg117Gly) rs548947826
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
NM_001113378.2(FANCI):c.3578dup (p.Asn1193fs)
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs) rs1567175626
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter)
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.2(FANCI):c.3688_3689del (p.Lys1230fs)
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) rs2152017390
NM_001113378.2(FANCI):c.3805A>T (p.Lys1269Ter)
NM_001113378.2(FANCI):c.3829C>T (p.Gln1277Ter)
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113378.2(FANCI):c.3924+2T>C
NM_001113378.2(FANCI):c.3985T>A (p.Ter1329Lys) rs1411317487
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
NM_001113378.2(FANCI):c.446del
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
NM_001113378.2(FANCI):c.546-5C>T rs2052826764
NM_001113378.2(FANCI):c.578_589del (p.Phe193_Lys197delinsTer)
NM_001113378.2(FANCI):c.669+1G>T
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
NM_001113378.2(FANCI):c.701_702del (p.Ile234fs)
NM_001113378.2(FANCI):c.739del (p.Glu247fs)
NM_001113378.2(FANCI):c.76_77del (p.Glu26fs)
NM_001113378.2(FANCI):c.775G>A (p.Val259Met) rs2053062704
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
NM_001113378.2(FANCI):c.834del (p.Ile279fs) rs748961800
NM_001113378.2(FANCI):c.845A>G (p.Asp282Gly)
NM_001113378.2(FANCI):c.85-1G>T
NM_001113378.2(FANCI):c.876_879del (p.His292fs) rs2053066105
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter) rs754986558
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter) rs761982725
NM_001127208.3(TET2):c.1621C>G (p.Leu541Val)
NM_001127208.3(TET2):c.1712G>A (p.Arg571His)
NM_001127208.3(TET2):c.3409+39C>T
NM_001128148.3(TFRC):c.1181A>G (p.Lys394Arg) rs1717655314
NM_001128148.3(TFRC):c.1678-3C>T rs769019945
NM_001128148.3(TFRC):c.464G>C (p.Arg155Pro) rs775554571
NM_001142864.4(PIEZO1):c.2838C>A (p.Tyr946Ter)
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter) rs72811487
NM_001142864.4(PIEZO1):c.5743C>G (p.Arg1915Gly) rs13338527
NM_001164277.1(SLC37A4):c.529_533del rs2089891548
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
NM_001164277.2(SLC37A4):c.1124+1G>A
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.1125-1G>A rs782202675
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
NM_001164277.2(SLC37A4):c.1201del (p.Glu401fs)
NM_001164277.2(SLC37A4):c.148+1G>A rs1943672400
NM_001164277.2(SLC37A4):c.148+2T>C rs1449998297
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter) rs374848317
NM_001164277.2(SLC37A4):c.188_189delinsT (p.Ser63fs)
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
NM_001164277.2(SLC37A4):c.381+1G>T rs786204637
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs) rs2134638421
NM_001164277.2(SLC37A4):c.484_485del (p.Ser162fs)
NM_001164277.2(SLC37A4):c.494delinsACA (p.Trp165fs)
NM_001164277.2(SLC37A4):c.529del (p.Val177fs)
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.721dup (p.Thr241fs)
NM_001164277.2(SLC37A4):c.726C>A (p.Cys242Ter)
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg) rs193302878
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs) rs1555190956
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-7_873dup
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro) rs193302891
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs) rs2134631619
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs) rs2134631242
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs) rs1001301633
NM_001164277.2(SLC37A4):c.986-1G>C
NM_001167.4(XIAP):c.1023T>A (p.Asn341Lys) rs2053404962
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala) rs150803413
NM_001199138.2(NLRC4):c.1551C>A (p.Cys517Ter) rs1687040860
NM_001243133.2(NLRP3):c.2638C>T (p.Pro880Ser) rs1663776046
NM_001250.6(CD40):c.256+2T>C rs774195387
NM_001289125.3(IFNAR2):c.841-102G>A rs777044815
NM_001290043.2(TAP2):c.220C>G (p.Pro74Ala) rs1054846360
NM_001291303.3(FAT4):c.11706T>G (p.Asp3902Glu) rs774612831
NM_001291303.3(FAT4):c.4143A>T (p.Glu1381Asp)
NM_001291303.3(FAT4):c.4432A>G (p.Ile1478Val) rs200565115
NM_001291303.3(FAT4):c.5161A>G (p.Thr1721Ala) rs904769252
NM_001291303.3(FAT4):c.6515A>C (p.Asp2172Ala) rs1328569048
NM_001322934.2(NFKB2):c.1297G>C (p.Glu433Gln) rs2061182778
NM_001354930.2(RIPK1):c.1682_1683insAAAA (p.Asn561fs)
NM_001354930.2(RIPK1):c.464C>G (p.Ala155Gly) rs1759490149
NM_001364905.1(LRBA):c.1937C>G (p.Pro646Arg) rs755987682
NM_001364905.1(LRBA):c.345dup (p.Ala116fs)
NM_001364905.1(LRBA):c.3826-13A>G rs1750538092
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.6223C>T (p.Leu2075Phe) rs1772352730
NM_001364905.1(LRBA):c.6994A>G (p.Ile2332Val)
NM_001369369.1(FOXN1):c.1420C>T (p.Gln474Ter) rs1438890364
NM_001372051.1(CASP8):c.1430C>T (p.Pro477Leu) rs1294147397
NM_001375834.1(WIPF1):c.851CTC[3] (p.Pro287del) rs556678311
NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs) rs1936852915
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp) rs483352867
NM_001556.3(IKBKB):c.313C>T (p.Arg105Trp) rs1812326855
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter) rs1818665697
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_001631.5(ALPI):c.406C>T (p.Arg136Cys)
NM_001631.5(ALPI):c.83C>T (p.Pro28Leu)
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val) rs1273605678
NM_001754.5(RUNX1):c.1073C>T (p.Thr358Met) rs962671280
NM_001754.5(RUNX1):c.1100G>A (p.Gly367Asp)
NM_001754.5(RUNX1):c.1114G>A (p.Gly372Ser) rs2145876612
NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)
NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser) rs2056455422
NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg) rs868527382
NM_001754.5(RUNX1):c.1191A>T (p.Gln397His) rs1176713877
NM_001754.5(RUNX1):c.1193C>G (p.Ala398Gly)
NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg) rs1555884864
NM_001754.5(RUNX1):c.1237T>G (p.Ser413Ala)
NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
NM_001754.5(RUNX1):c.1328A>G (p.Asn443Ser)
NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)
NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup) rs2056446750
NM_001754.5(RUNX1):c.1400C>A (p.Ala467Glu) rs1442794209
NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val) rs1601331921
NM_001754.5(RUNX1):c.153G>T (p.Lys51Asn)
NM_001754.5(RUNX1):c.181C>T (p.Pro61Ser) rs776929941
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val) rs2058002974
NM_001754.5(RUNX1):c.211C>G (p.Leu71Val)
NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)
NM_001754.5(RUNX1):c.236T>A (p.Val79Glu) rs1601529045
NM_001754.5(RUNX1):c.268G>A (p.Val90Met) rs2057999447
NM_001754.5(RUNX1):c.340A>G (p.Ile114Val) rs2146407952
NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)
NM_001754.5(RUNX1):c.382A>T (p.Thr128Ser)
NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.443C>T (p.Thr148Ile) rs2057886829
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile) rs763464804
NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln) rs1229231012
NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln) rs754894156
NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg) rs1399187182
NM_001754.5(RUNX1):c.761A>G (p.Asn254Ser) rs2146075026
NM_001754.5(RUNX1):c.766T>C (p.Ser256Pro)
NM_001754.5(RUNX1):c.76A>C (p.Asn26His)
NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)
NM_001754.5(RUNX1):c.82_84del (p.Ser28del) rs775050403
NM_001754.5(RUNX1):c.833C>T (p.Pro278Leu) rs759227406
NM_001754.5(RUNX1):c.917G>C (p.Arg306Pro) rs139336358
NM_001754.5(RUNX1):c.952T>C (p.Ser318Pro) rs545554349
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) rs57246956
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) rs137854451
NM_002184.4(IL6ST):c.1824dup (p.Thr609fs)
NM_002351.5(SH2D1A):c.162C>A (p.Tyr54Ter)
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1051G>T (p.Glu351Ter)
NM_002435.3(MPI):c.1054del rs752976348
NM_002435.3(MPI):c.1061G>A (p.Gly354Asp)
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs) rs2064839839
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1124G>A (p.Gly375Glu) rs2064840907
NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)
NM_002435.3(MPI):c.1134del (p.Ile378fs)
NM_002435.3(MPI):c.1154del (p.Gln385fs)
NM_002435.3(MPI):c.120del (p.Ile40fs) rs1057516466
NM_002435.3(MPI):c.130_133dup (p.Pro45fs)
NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)
NM_002435.3(MPI):c.16+1G>T
NM_002435.3(MPI):c.16+2T>C
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.17-2A>C
NM_002435.3(MPI):c.17-2A>G
NM_002435.3(MPI):c.251C>A (p.Ser84Ter)
NM_002435.3(MPI):c.287del (p.Phe96fs)
NM_002435.3(MPI):c.319del (p.Leu107fs)
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.391G>A (p.Asp131Asn)
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.419T>C (p.Ile140Thr)
NM_002435.3(MPI):c.432del (p.Phe145fs)
NM_002435.3(MPI):c.436C>T (p.Gln146Ter)
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
NM_002435.3(MPI):c.487+1G>A
NM_002435.3(MPI):c.530dup (p.His178fs)
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
NM_002435.3(MPI):c.631del (p.Glu211fs) rs1374119101
NM_002435.3(MPI):c.634C>T (p.Gln212Ter)
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.844+2T>C
NM_002435.3(MPI):c.845-2A>G rs2064828055
NM_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.875_879dup (p.Val294fs)
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.95C>T (p.Ala32Val) rs1596440893
NM_002435.3(MPI):c.973del (p.Leu325fs)
NM_002435.3(MPI):c.991_1053+17del
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg) rs863224946
NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg) rs777632466
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys) rs886039463
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002838.5(PTPRC):c.2142+7A>G rs764731559
NM_002838.5(PTPRC):c.3832G>C (p.Ala1278Pro) rs201641820
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys) rs869025501
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.4(RAF1):c.949_950delinsCT (p.Glu317Leu)
NM_003183.6(ADAM17):c.470A>G (p.Asn157Ser) rs1664592938
NM_003190.5(TAPBP):c.1138T>C (p.Tyr380His) rs1768797475
NM_003190.5(TAPBP):c.342C>G (p.Asn114Lys) rs778522290
NM_003331.5(TYK2):c.2664C>A (p.Asp888Glu) rs201456217
NM_003331.5(TYK2):c.985G>A (p.Val329Ile) rs759288032
NM_003664.5(AP3B1):c.1020del (p.Arg341fs)
NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)
NM_003664.5(AP3B1):c.1206_1207del (p.Ser403fs)
NM_003664.5(AP3B1):c.1363+1G>A
NM_003664.5(AP3B1):c.1379_1382dup (p.Ser461fs)
NM_003664.5(AP3B1):c.1474-2A>G
NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)
NM_003664.5(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.5(AP3B1):c.1852C>T (p.Gln618Ter)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.2078-1G>A
NM_003664.5(AP3B1):c.2297del (p.Asp766fs)
NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2894+1G>T
NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
NM_003664.5(AP3B1):c.724dup (p.Val242fs)
NM_003664.5(AP3B1):c.942+1G>T
NM_003721.4(RFXANK):c.271+1delinsTCAC rs2060611603
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003764.4(STX11):c.157_160del (p.Asp53fs)
NM_003764.4(STX11):c.325G>T (p.Glu109Ter)
NM_003764.4(STX11):c.337_352dup (p.His118delinsArgGlyTer)
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649
NM_003764.4(STX11):c.397_398del (p.Asn133fs)
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)
NM_003764.4(STX11):c.551del (p.Gly184fs)
NM_003764.4(STX11):c.568dup (p.Ser190fs)
NM_003764.4(STX11):c.645dup (p.Arg216fs)
NM_003764.4(STX11):c.697del (p.Val233fs)
NM_003764.4(STX11):c.73G>T (p.Glu25Ter)
NM_003764.4(STX11):c.748C>T (p.Gln250Ter)
NM_003764.4(STX11):c.807C>A (p.Tyr269Ter)
NM_003764.4(STX11):c.83C>A (p.Ser28Ter) rs143547259
NM_003978.5(PSTPIP1):c.757C>T (p.Arg253Trp) rs375155007
NM_003998.4(NFKB1):c.2027C>T (p.Ala676Val) rs1727845506
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)
NM_004364.5(CEBPA):c.116C>T (p.Pro39Leu) rs1060502125
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser) rs777090929
NM_004364.5(CEBPA):c.166T>A (p.Cys56Ser)
NM_004364.5(CEBPA):c.184A>G (p.Ile62Val) rs558462037
NM_004364.5(CEBPA):c.200A>C (p.Tyr67Ser)
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly) rs1367071880
NM_004364.5(CEBPA):c.265_267del (p.Glu89del) rs747773004
NM_004364.5(CEBPA):c.284T>G (p.Val95Gly) rs2145263298
NM_004364.5(CEBPA):c.290C>G (p.Pro97Arg)
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser) rs1216191482
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg) rs1967204111
NM_004364.5(CEBPA):c.352G>A (p.Ala118Thr)
NM_004364.5(CEBPA):c.394G>C (p.Gly132Arg) rs1038352346
NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg) rs1007915253
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys) rs1967184663
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu) rs1967203329
NM_004364.5(CEBPA):c.440A>G (p.Tyr147Cys)
NM_004364.5(CEBPA):c.445C>T (p.Arg149Cys) rs2145262063
NM_004364.5(CEBPA):c.448G>T (p.Val150Phe) rs1600023056
NM_004364.5(CEBPA):c.44T>C (p.Met15Thr) rs1600024585
NM_004364.5(CEBPA):c.451G>C (p.Gly151Arg) rs986682061
NM_004364.5(CEBPA):c.452_468delinsAT (p.Gly151_Arg156delinsAsp)
NM_004364.5(CEBPA):c.458_523del (p.Pro153_Ala174del)
NM_004364.5(CEBPA):c.473T>G (p.Leu158Arg)
NM_004364.5(CEBPA):c.493C>G (p.Arg165Gly)
NM_004364.5(CEBPA):c.494G>A (p.Arg165His) rs1481086547
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe) rs1325138029
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser) rs1303742006
NM_004364.5(CEBPA):c.574_575insTGCACC (p.His191_Pro192insLeuHis)
NM_004364.5(CEBPA):c.575_616del (p.Pro192_His205del)
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr) rs1213752306
NM_004364.5(CEBPA):c.595_596delinsTT (p.Ala199Leu) rs1060502118
NM_004364.5(CEBPA):c.60G>C (p.Gln20His) rs1060502123
NM_004364.5(CEBPA):c.635A>C (p.His212Pro)
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg) rs867113214
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala) rs1600022240
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr) rs1478319097
NM_004364.5(CEBPA):c.719C>T (p.Ala240Val)
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly) rs1382832060
NM_004364.5(CEBPA):c.751A>T (p.Ser251Cys)
NM_004364.5(CEBPA):c.776C>G (p.Ala259Gly) rs746895795
NM_004364.5(CEBPA):c.793G>T (p.Ala265Ser)
NM_004364.5(CEBPA):c.794C>T (p.Ala265Val)
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser) rs1568419433
NM_004364.5(CEBPA):c.815G>C (p.Gly272Ala)
NM_004364.5(CEBPA):c.882C>G (p.Ile294Met) rs376093748
NM_004364.5(CEBPA):c.914A>G (p.Gln305Arg) rs1479225242
NM_004364.5(CEBPA):c.919A>T (p.Asn307Tyr)
NM_004364.5(CEBPA):c.957T>G (p.Ser319Arg)
NM_004364.5(CEBPA):c.985G>A (p.Glu329Lys) rs1568419162
NM_004523.4(KIF11):c.131A>G (p.Asp44Gly) rs1844430488
NM_004523.4(KIF11):c.1480G>A (p.Asp494Asn)
NM_004523.4(KIF11):c.151A>G (p.Ser51Gly) rs1844430675
NM_004523.4(KIF11):c.1875+4A>G
NM_004523.4(KIF11):c.2161-1G>A rs1844845643
NM_004523.4(KIF11):c.2279A>T (p.Asp760Val) rs778431479
NM_004523.4(KIF11):c.2654C>A (p.Thr885Asn)
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.109_110del (p.Leu37fs)
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter) rs1326382443
NM_004629.2(FANCG):c.1144-1G>A
NM_004629.2(FANCG):c.1144-1G>C rs755363896
NM_004629.2(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) rs2131053943
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
NM_004629.2(FANCG):c.1359del (p.Ala454fs) rs1829066243
NM_004629.2(FANCG):c.1366del (p.His456fs) rs587778345
NM_004629.2(FANCG):c.1434-2A>C rs1829062071
NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
NM_004629.2(FANCG):c.1480+1G>A
NM_004629.2(FANCG):c.1483del rs760738460
NM_004629.2(FANCG):c.1542_1545dup (p.Ala516fs)
NM_004629.2(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.2(FANCG):c.1593del (p.Ala533fs) rs761519737
NM_004629.2(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.2(FANCG):c.1636+1G>C
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter) rs2131051951
NM_004629.2(FANCG):c.1672_1673del (p.Leu558fs)
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.176-6_190del
NM_004629.2(FANCG):c.1761-1G>A rs1829035889
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.272del (p.Asp91fs)
NM_004629.2(FANCG):c.306_307del (p.Arg102fs)
NM_004629.2(FANCG):c.307+1G>A
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.308-1G>A
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_004629.2(FANCG):c.347_348del (p.Gln116fs)
NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)
NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)
NM_004629.2(FANCG):c.510+1G>A
NM_004629.2(FANCG):c.511-1G>T
NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)
NM_004629.2(FANCG):c.552dup (p.Ser185fs) rs1412207017
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) rs755361015
NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)
NM_004629.2(FANCG):c.601_602del (p.Gln201fs)
NM_004629.2(FANCG):c.619del (p.Leu207fs)
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004629.2(FANCG):c.682del (p.Ala228fs)
NM_004629.2(FANCG):c.692del (p.Ser231fs)
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
NM_004629.2(FANCG):c.713dup (p.Leu239fs) rs2131056549
NM_004629.2(FANCG):c.721_733del (p.Pro241fs)
NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
NM_004629.2(FANCG):c.778-1G>A rs767518932
NM_004629.2(FANCG):c.778-1G>C rs767518932
NM_004629.2(FANCG):c.797dup (p.Leu267fs)
NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
NM_004629.2(FANCG):c.907del (p.Leu303fs)
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
NM_004629.2(FANCG):c.941del (p.Cys314fs)
NM_004629.2(FANCG):c.942C>A (p.Cys314Ter)
NM_004629.2(FANCG):c.981dup (p.Leu328fs) rs2131055463
NM_004629.2(FANCG):c.99_103del (p.Gly34fs)
NM_004946.3(DOCK2):c.2799+42206G>A rs753446744
NM_004946.3(DOCK2):c.3073-8A>G rs113289730
NM_004946.3(DOCK2):c.4163T>A (p.Met1388Lys) rs765831486
NM_004946.3(DOCK2):c.4729-2A>G rs1757824003
NM_004946.3(DOCK2):c.5166G>A (p.Arg1722=) rs774905346
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.202A>T (p.Arg68Trp)
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005026.5(PIK3CD):c.1435G>A (p.Ala479Thr) rs1648293206
NM_005026.5(PIK3CD):c.266_273del (p.Leu89fs)
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005026.5(PIK3CD):c.317dup (p.Asp107fs)
NM_005045.4(RELN):c.10166_10167del (p.Ser3389fs)
NM_005045.4(RELN):c.10297C>T (p.Gln3433Ter)
NM_005045.4(RELN):c.1132G>A (p.Ala378Thr) rs1834010274
NM_005045.4(RELN):c.2728T>C (p.Ser910Pro) rs1831965631
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe) rs1357686410
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser) rs772156285
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)
NM_005188.4(CBL):c.434C>G (p.Ser145Cys)
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter) rs1688714490
NM_005214.5(CTLA4):c.472C>T (p.Pro158Ser)
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_005251.3(FOXC2):c.760G>C (p.Gly254Arg) rs966178183
NM_005251.3(FOXC2):c.782C>A (p.Ala261Asp) rs1974225710
NM_005251.3(FOXC2):c.973del (p.Ala325fs) rs1974229664
NM_005263.5(GFI1):c.52C>T (p.Pro18Ser) rs1658381767
NM_005337.5(NCKAP1L):c.736A>C (p.Met246Leu)
NM_005356.5(LCK):c.1514A>G (p.Tyr505Cys) rs1569984631
NM_005419.4(STAT2):c.820C>T (p.Gln274Ter) rs1878457865
NM_005546.4(ITK):c.295C>T (p.Arg99Trp) rs1754188575
NM_005565.5(LCP2):c.1279A>G (p.Ile427Val)
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.196A>G (p.Ser66Gly)
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe) rs781093356
NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys) rs1668861106
NM_005633.4(SOS1):c.3959A>C (p.His1320Pro)
NM_005633.4(SOS1):c.829C>A (p.Pro277Thr) rs1057517871
NM_006060.6(IKZF1):c.715+167C>T rs549144523
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter) rs1398108109
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr) rs200844905
NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser) rs746064505
NM_006767.4(LZTR1):c.2070-12C>A rs779677120
NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser) rs1924904363
NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) rs1555927321
NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr) rs1358951592
NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr) rs1924227635
NM_006785.4(MALT1):c.1401-15G>T rs371051170
NM_006785.4(MALT1):c.2191C>G (p.Leu731Val) rs2055386752
NM_006785.4(MALT1):c.2273A>G (p.His758Arg) rs2055388108
NM_006904.7(PRKDC):c.1187T>C (p.Phe396Ser) rs2090353585
NM_006904.7(PRKDC):c.4773A>G (p.Lys1591=) rs2089318466
NM_006904.7(PRKDC):c.655G>C (p.Val219Leu) rs1247432451
NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu) rs185741285
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn)
NM_006939.4(SOS2):c.3380-3_3380-2del rs1883462827
NM_006939.4(SOS2):c.574A>G (p.Ser192Gly) rs1886005265
NM_006947.4(SRP72):c.50A>G (p.Glu17Gly)
NM_006949.4(STXBP2):c.1044_1051del (p.His348fs)
NM_006949.4(STXBP2):c.1071C>T (p.Phe357=) rs2031968313
NM_006949.4(STXBP2):c.1107+2T>G
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
NM_006949.4(STXBP2):c.1179del (p.Leu394fs)
NM_006949.4(STXBP2):c.1210dup (p.Ile404fs)
NM_006949.4(STXBP2):c.1356+1G>C
NM_006949.4(STXBP2):c.1356+1G>T
NM_006949.4(STXBP2):c.1411C>T (p.Gln471Ter)
NM_006949.4(STXBP2):c.143C>G (p.Ser48Ter)
NM_006949.4(STXBP2):c.1452+1G>A
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter) rs760061071
NM_006949.4(STXBP2):c.1538+1G>C
NM_006949.4(STXBP2):c.1538+2T>C
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) rs35490401
NM_006949.4(STXBP2):c.1610_1611dup (p.Val538fs)
NM_006949.4(STXBP2):c.1611T>G (p.Tyr537Ter)
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.1697G>A (p.Gly566Asp)
NM_006949.4(STXBP2):c.1722_1723insTCAC (p.Arg575fs)
NM_006949.4(STXBP2):c.229_239delinsG (p.Leu77fs)
NM_006949.4(STXBP2):c.253C>T (p.Gln85Ter)
NM_006949.4(STXBP2):c.255_265del (p.Ala86fs)
NM_006949.4(STXBP2):c.290dup (p.Thr98fs)
NM_006949.4(STXBP2):c.37+5G>A
NM_006949.4(STXBP2):c.429+1G>A
NM_006949.4(STXBP2):c.430-1G>A
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_006949.4(STXBP2):c.578+2T>C
NM_006949.4(STXBP2):c.607del (p.His203fs) rs2031907358
NM_006949.4(STXBP2):c.652dup (p.Ser218fs)
NM_006949.4(STXBP2):c.693_695del (p.Ile232del) rs1599398298
NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly) rs753879238
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
NM_006949.4(STXBP2):c.87+2T>C
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser) rs782339252
NM_007293.3(C4A):c.3059C>T (p.Pro1020Leu) rs1196274661
NM_007293.3(C4A):c.3453T>G (p.His1151Gln) rs1348499408
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1738G>A (p.Gly580Ser)
NM_007315.4(STAT1):c.2174C>T (p.Pro725Leu) rs1691783002
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu) rs1848438761
NM_012092.4(ICOS):c.129A>T (p.Lys43Asn) rs1690065667
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_012388.4(BLOC1S6):c.82+12C>T rs763484836
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His) rs938448224
NM_012452.3(TNFRSF13B):c.288C>T (p.His96=) rs778997868
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_014009.4(FOXP3):c.1110G>A (p.Met370Ile)
NM_014009.4(FOXP3):c.315+1G>A
NM_014009.4(FOXP3):c.543-3C>T rs1557116438
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_014140.4(SMARCAL1):c.755T>C (p.Ile252Thr) rs1693575527
NM_014339.7(IL17RA):c.1907A>G (p.Asp636Gly) rs868771675
NM_014639.4(SKIC3):c.1413A>G (p.Thr471=) rs1747534368
NM_014639.4(SKIC3):c.1733G>T (p.Gly578Val) rs1747497202
NM_014639.4(SKIC3):c.3055_3056dup (p.Asn1020fs)
NM_014639.4(SKIC3):c.409C>T (p.Arg137Ter) rs776321294
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile) rs755895621
NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg) rs757945497
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys) rs770005027
NM_016123.4(IRAK4):c.6C>G (p.Asn2Lys) rs1940358839
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
NM_018062.4(FANCL):c.1017_1018insA (p.Glu340fs)
NM_018062.4(FANCL):c.1021-2A>G
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs) rs1553433429
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018062.4(FANCL):c.1064dup (p.Phe356fs)
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
NM_018062.4(FANCL):c.1092+1G>C
NM_018062.4(FANCL):c.1092+1G>T
NM_018062.4(FANCL):c.13del (p.Glu5fs)
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) rs1490932431
NM_018062.4(FANCL):c.217-2A>G
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
NM_018062.4(FANCL):c.273+1G>A rs144729980
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_018062.4(FANCL):c.328_335dup (p.Leu114fs)
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_018062.4(FANCL):c.378del (p.Val127fs)
NM_018062.4(FANCL):c.40del (p.Leu14fs) rs761039364
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.4(FANCL):c.442del (p.His148fs)
NM_018062.4(FANCL):c.471+2T>C
NM_018062.4(FANCL):c.524C>T (p.Ala175Val) rs199966372
NM_018062.4(FANCL):c.590del (p.Leu197fs)
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
NM_018062.4(FANCL):c.691+2_691+5del
NM_018062.4(FANCL):c.70del (p.Val24fs)
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
NM_018062.4(FANCL):c.738dup (p.Met247fs)
NM_018062.4(FANCL):c.759_762del (p.Phe253fs) rs1553435610
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
NM_018062.4(FANCL):c.903+1del
NM_018062.4(FANCL):c.904-4G>T rs757211531
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
NM_018124.4(RFWD3):c.1577G>A (p.Ser526Asn)
NM_018344.6(SLC29A3):c.2-4A>G
NM_018389.5(SLC35C1):c.184C>G (p.Leu62Val) rs1318213708
NM_018389.5(SLC35C1):c.375C>G (p.Ile125Met) rs747143721
NM_018389.5(SLC35C1):c.969G>C (p.Trp323Cys) rs2085942265
NM_019594.4(LRRC8A):c.2267del (p.Leu756fs) rs1840810037
NM_020937.4(FANCM):c.4477del (p.Arg1493fs) rs1889219103
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe) rs1599633287
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro) rs2050036468
NM_020964.3(EPG5):c.4108C>T (p.Leu1370Phe) rs2049869676
NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro) rs1345938343
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter) rs372940918
NM_021813.4(BACH2):c.1102C>T (p.Pro368Ser) rs1774062472
NM_021813.4(BACH2):c.1649G>T (p.Cys550Phe)
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1113+2T>A
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
NM_021922.3(FANCE):c.118del (p.Ala40fs)
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.1238-2A>C
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
NM_021922.3(FANCE):c.1300C>T (p.Gln434Ter)
NM_021922.3(FANCE):c.1317-1G>A
NM_021922.3(FANCE):c.1363del (p.Gln455fs) rs1767552099
NM_021922.3(FANCE):c.1383+2T>C
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile) rs1767643426
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.248+1G>C
NM_021922.3(FANCE):c.248+1G>T
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln) rs45600543
NM_021922.3(FANCE):c.334del (p.Ser112fs) rs1479445348
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.505del (p.Arg169fs)
NM_021922.3(FANCE):c.524del (p.Gly175fs) rs773363446
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.635del (p.Glu212fs)
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
NM_021922.3(FANCE):c.836del (p.Glu279fs)
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
NM_021922.3(FANCE):c.929del (p.Pro310fs) rs587778337
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.969+1G>A
NM_021922.3(FANCE):c.988C>T (p.Gln330Ter)
NM_022047.4(DEF6):c.529G>A (p.Gly177Arg)
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr) rs1314541924
NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val) rs1682712829
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter) rs1559809132
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022725.4(FANCF):c.1018G>T (p.Glu340Ter)
NM_022725.4(FANCF):c.133_136del (p.His45fs)
NM_022725.4(FANCF):c.167del (p.Thr56fs)
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.235G>T (p.Gly79Ter)
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs) rs2133798885
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
NM_022725.4(FANCF):c.307dup (p.Leu103fs)
NM_022725.4(FANCF):c.349C>T (p.Pro117Ser) rs372625322
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.379G>T (p.Glu127Ter)
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
NM_022725.4(FANCF):c.434del (p.Met145fs)
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer) rs778546226
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.496C>T (p.Gln166Ter) rs766279442
NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)
NM_022725.4(FANCF):c.530_537del (p.Val177fs)
NM_022725.4(FANCF):c.581A>G (p.Glu194Gly) rs1274843959
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) rs1479457172
NM_022725.4(FANCF):c.641dup (p.Leu214fs)
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
NM_022725.4(FANCF):c.736del (p.Glu246fs)
NM_022725.4(FANCF):c.774_780del (p.Leu259_Leu260insTer)
NM_022725.4(FANCF):c.78G>A (p.Trp26Ter)
NM_022725.4(FANCF):c.792dup (p.Ser265Ter)
NM_022725.4(FANCF):c.801C>A (p.His267Gln) rs762356967
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)
NM_022725.4(FANCF):c.943dup (p.Cys315fs) rs1590540654
NM_024598.4(USB1):c.209G>A (p.Arg70Gln) rs767016894
NM_024598.4(USB1):c.796T>G (p.Ter266Gly) rs1963706554
NM_024675.4(PALB2):c.321T>G (p.Phe107Leu) rs781049663
NM_024675.4(PALB2):c.510A>C (p.Arg170Ser) rs1060502796
NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn) rs1471676178
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val) rs1857359607
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val) rs1427683229
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys) rs749473518
NM_032415.7(CARD11):c.2074G>C (p.Val692Leu)
NM_032415.7(CARD11):c.2269+18C>A rs912873162
NM_032415.7(CARD11):c.2875A>G (p.Ser959Gly) rs1429376486
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.1684-1G>A
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.4585C>T (p.Gln1529Ter) rs1237224833
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs) rs2040460653
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_032638.5(GATA2):c.1040C>T (p.Thr347Ile) rs2107668761
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser) rs2068625752
NM_032638.5(GATA2):c.1202C>G (p.Ser401Cys)
NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn) rs779797858
NM_032638.5(GATA2):c.1236G>T (p.Glu412Asp) rs1559984721
NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys) rs758517602
NM_032638.5(GATA2):c.1267_1269del (p.Glu423del)
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala)
NM_032638.5(GATA2):c.1360C>T (p.Pro454Ser) rs774297463
NM_032638.5(GATA2):c.1405C>T (p.His469Tyr) rs2068620221
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu) rs1429596189
NM_032638.5(GATA2):c.154C>G (p.Leu52Val)
NM_032638.5(GATA2):c.16G>C (p.Glu6Gln)
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala)
NM_032638.5(GATA2):c.23C>A (p.Pro8Gln) rs771557922
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser)
NM_032638.5(GATA2):c.283T>G (p.Leu95Val)
NM_032638.5(GATA2):c.299G>T (p.Gly100Val)
NM_032638.5(GATA2):c.398G>T (p.Gly133Val) rs2068696971
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser) rs2068696200
NM_032638.5(GATA2):c.466G>C (p.Val156Leu) rs2068695139
NM_032638.5(GATA2):c.482C>T (p.Pro161Leu)
NM_032638.5(GATA2):c.494A>G (p.His165Arg) rs1559987389
NM_032638.5(GATA2):c.509T>C (p.Leu170Pro)
NM_032638.5(GATA2):c.539A>C (p.Glu180Ala) rs1028518743
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser) rs1373180685
NM_032638.5(GATA2):c.56C>T (p.Ala19Val)
NM_032638.5(GATA2):c.592G>T (p.Ala198Ser) rs1576748685
NM_032638.5(GATA2):c.596G>C (p.Gly199Ala)
NM_032638.5(GATA2):c.598G>C (p.Gly200Arg)
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) rs373477245
NM_032638.5(GATA2):c.619G>A (p.Asp207Asn) rs2068691024
NM_032638.5(GATA2):c.629_631dup (p.Gly210dup) rs1553770955
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser) rs1172590651
NM_032638.5(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_032638.5(GATA2):c.745T>C (p.Tyr249His)
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser) rs78245253
NM_032638.5(GATA2):c.773A>G (p.His258Arg)
NM_032638.5(GATA2):c.7G>C (p.Val3Leu)
NM_032638.5(GATA2):c.821C>T (p.Pro274Leu)
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn) rs2068685897
NM_032638.5(GATA2):c.85C>G (p.Leu29Val)
NM_032638.5(GATA2):c.878G>A (p.Arg293Gln) rs2068663016
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862
NM_032790.4(ORAI1):c.444C>G (p.Ile148Met) rs782566002
NM_032977.4(CASP10):c.1465C>T (p.Arg489Ter) rs746530401
NM_032977.4(CASP10):c.604_605insGTGTCACG (p.Asp202fs) rs1559299395
NM_033084.6(FANCD2):c.2609_2613del
NM_033084.6(FANCD2):c.3107_3108del rs2125059924
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033360.4(KRAS):c.559A>G (p.Ile187Val) rs779951033
NM_033629.6(TREX1):c.-26-52C>T rs2040311705
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser) rs2040342178
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) rs77371662
NM_080424.4(SP110):c.1514AAGGAA[1] (p.Lys507_Gly508del)
NM_080424.4(SP110):c.718G>C (p.Glu240Gln) rs2044474258
NM_080911.3(UNG):c.490G>A (p.Gly164Arg) rs745760429
NM_080911.3(UNG):c.710C>G (p.Ala237Gly) rs201146665
NM_138348.6(OTULIN):c.22C>T (p.Gln8Ter) rs1735786455
NM_138348.6(OTULIN):c.553G>T (p.Val185Phe) rs867617260
NM_138576.4(BCL11B):c.1003A>G (p.Met335Val) rs1886500576
NM_138576.4(BCL11B):c.296C>T (p.Pro99Leu) rs1889207328
NM_138576.4(BCL11B):c.906C>A (p.His302Gln) rs1886508540
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys) rs142214608
NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala)
NM_139276.3(STAT3):c.1129G>A (p.Ala377Thr) rs2081912356
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1365G>T (p.Glu455Asp)
NM_144687.4(NLRP12):c.1328T>C (p.Met443Thr)
NM_144687.4(NLRP12):c.1394C>T (p.Ala465Val) rs960826983
NM_144687.4(NLRP12):c.882C>G (p.Asp294Glu) rs147080557
NM_152564.5(VPS13B):c.10384C>G (p.Leu3462Val) rs761972356
NM_152564.5(VPS13B):c.10557del (p.Leu3519fs) rs1816422602
NM_152564.5(VPS13B):c.3183G>T (p.Trp1061Cys) rs1817118329
NM_152564.5(VPS13B):c.7850T>C (p.Leu2617Pro) rs1563916076
NM_152564.5(VPS13B):c.7934C>G (p.Ser2645Cys) rs1812163324
NM_152564.5(VPS13B):c.7958T>C (p.Ile2653Thr) rs1813583407
NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu) rs1656184011
NM_181523.3(PIK3R1):c.1264G>A (p.Val422Met)
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) rs1289537429
NM_182746.3(MCM4):c.311G>A (p.Arg104Lys) rs1563830466
NM_182925.5(FLT4):c.1104-2A>G
NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) rs1761973773
NM_182972.3(IRF2BP2):c.344A>G (p.Glu115Gly) rs1672267992
NM_182972.3(IRF2BP2):c.451C>A (p.Pro151Thr) rs868631595
NM_182972.3(IRF2BP2):c.535C>G (p.Arg179Gly) rs1367122613
NM_197947.3(CLEC7A):c.536T>C (p.Phe179Ser) rs1948157159
NM_199242.3(UNC13D):c.197G>T (p.Arg66Leu) rs371943727
NM_203447.4(DOCK8):c.4268C>G (p.Ala1423Gly) rs750589703
NM_203447.4(DOCK8):c.5207C>G (p.Ala1736Gly) rs139990627
NM_203447.4(DOCK8):c.53+23C>T rs778809812
NM_203447.4(DOCK8):c.5442del (p.Val1813_Tyr1814insTer) rs2057107899
NM_203447.4(DOCK8):c.5711G>A (p.Arg1904Gln) rs140539006
NM_203447.4(DOCK8):c.860G>T (p.Ser287Ile) rs2050737085
NR_023317.1(RNU7-1):n.23T>G
NR_023317.1(RNU7-1):n.28C>T rs180837208

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