ClinVar Miner

List of variants reported as uncertain significance for connective tissue neoplasm

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2779
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HGVS dbSNP gnomAD frequency
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_058172.6(ANTXR2):c.*2446C>T rs186733755 0.00476
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) rs118053940 0.00372
NM_058172.6(ANTXR2):c.*5761A>G rs541962244 0.00275
NM_024529.5(CDC73):c.*3419T>A rs566373225 0.00205
NM_058172.6(ANTXR2):c.*1126T>A rs192905651 0.00188
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro) rs35746269 0.00180
NM_058172.6(ANTXR2):c.*2226A>T rs533517816 0.00179
NM_058172.6(ANTXR2):c.*702A>C rs537492648 0.00146
NM_024529.5(CDC73):c.*1365T>C rs180929933 0.00143
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_000127.3(EXT1):c.-678C>T rs886062644 0.00127
NM_058172.6(ANTXR2):c.*4576A>G rs181895498 0.00119
NM_024529.5(CDC73):c.*1472T>G rs576716003 0.00117
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_024529.5(CDC73):c.*2446C>T rs572307472 0.00114
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_000388.4(CASR):c.-154T>A rs186365367 0.00101
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00098
NM_002451.4(MTAP):c.*1453C>T rs753610558 0.00096
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp) rs146468845 0.00093
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000127.3(EXT1):c.-655C>A rs886062642 0.00084
NM_002451.4(MTAP):c.*3072G>A rs768885564 0.00083
NM_004364.5(CEBPA):c.-39C>A rs41434054 0.00082
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673 0.00080
NM_024529.5(CDC73):c.*1132G>T rs1017988008 0.00078
NM_001127511.3(APC):c.-204A>G rs554351451 0.00076
NM_024529.5(CDC73):c.*3266A>G rs532839308 0.00075
NM_058172.6(ANTXR2):c.*2225A>G rs543254931 0.00071
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_058172.6(ANTXR2):c.*2550T>C rs559781709 0.00065
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_058172.6(ANTXR2):c.*5525G>A rs533063623 0.00062
NM_000388.4(CASR):c.*923T>C rs201230484 0.00061
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_002451.4(MTAP):c.*3052C>T rs182636316 0.00053
NM_058172.6(ANTXR2):c.1347+9C>T rs112023055 0.00052
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_000127.3(EXT1):c.-731G>A rs886062645 0.00048
NM_058172.6(ANTXR2):c.*3602A>G rs574894829 0.00048
NM_058172.6(ANTXR2):c.*4058A>T rs75657044 0.00048
NM_005188.4(CBL):c.*615C>T rs769151797 0.00047
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
NM_002451.4(MTAP):c.*2651G>A rs569725867 0.00044
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_024529.5(CDC73):c.*453A>C rs547363180 0.00042
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_000388.4(CASR):c.*1201C>T rs886057837 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_000127.3(EXT1):c.-358T>C rs886062639 0.00037
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_024529.5(CDC73):c.*1761T>C rs528066706 0.00036
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_207122.2(EXT2):c.*1153A>T rs185285766 0.00034
NM_000127.3(EXT1):c.*151T>C rs751063786 0.00031
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_000127.3(EXT1):c.-113G>C rs533303304 0.00029
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_005188.3(CBL):c.-122C>T rs886047765 0.00029
NM_024529.5(CDC73):c.*1787A>G rs747621423 0.00029
NM_058172.6(ANTXR2):c.*703C>T rs745896907 0.00029
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) rs565657378 0.00026
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174 0.00024
NM_024529.5(CDC73):c.*1644C>T rs764317616 0.00024
NM_058172.6(ANTXR2):c.945+7A>G rs144618912 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly) rs202038275 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_002451.4(MTAP):c.*2968T>C rs554780978 0.00022
NM_024529.5(CDC73):c.*3791T>C rs886045739 0.00022
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser) rs919904139 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) rs373582542 0.00021
NM_002451.4(MTAP):c.*1482A>G rs560361151 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) rs755817193 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_058172.6(ANTXR2):c.-442C>G rs886059663 0.00019
NM_207122.2(EXT2):c.*945G>A rs886048282 0.00019
NM_001754.5(RUNX1):c.-59-10C>T rs578080277 0.00018
NM_002451.4(MTAP):c.*3361C>T rs138870323 0.00018
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile) rs770428240 0.00018
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_000388.4(CASR):c.*1193C>T rs886057835 0.00017
NM_000388.4(CASR):c.*1197C>G rs886057836 0.00017
NM_002451.4(MTAP):c.*2033G>A rs547939395 0.00017
NM_002451.4(MTAP):c.*2481T>C rs937544830 0.00017
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_058172.6(ANTXR2):c.*2899A>G rs529893604 0.00017
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=) rs375440055 0.00017
NM_000388.4(CASR):c.*1169C>T rs200652347 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_024529.5(CDC73):c.-143G>C rs778446879 0.00016
NM_207122.2(EXT2):c.*838T>G rs991198189 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser) rs770636941 0.00015
NM_005373.3(MPL):c.619G>A (p.Asp207Asn) rs201385967 0.00015
NM_000127.3(EXT1):c.1749G>C (p.Gln583His) rs575895733 0.00014
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_002451.4(MTAP):c.*2837T>A rs566068002 0.00014
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met) rs199754104 0.00014
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val) rs199564714 0.00014
NM_002451.4(MTAP):c.*1384G>C rs755911467 0.00013
NM_002451.4(MTAP):c.*2912G>C rs775831366 0.00013
NM_024529.5(CDC73):c.*683G>A rs905879297 0.00013
NM_058172.6(ANTXR2):c.-441C>T rs778888047 0.00013
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00012
NM_002451.4(MTAP):c.*2269A>T rs760747427 0.00012
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_004304.5(ALK):c.1283-5T>C rs377214413 0.00012
NM_024529.5(CDC73):c.*1985T>A rs886045726 0.00012
NM_058172.6(ANTXR2):c.*1114G>A rs753388642 0.00012
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr) rs921077083 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) rs564555435 0.00011
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met) rs370912192 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys) rs367785289 0.00011
NM_058172.6(ANTXR2):c.*1133G>A rs928832669 0.00011
NM_207122.2(EXT2):c.*440A>G rs529075674 0.00011
NM_002451.4(MTAP):c.*102A>G rs755040797 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_024529.5(CDC73):c.*2420A>C rs536960020 0.00010
NM_024529.5(CDC73):c.-30C>T rs770313192 0.00010
NM_058172.6(ANTXR2):c.*4703T>A rs199645652 0.00010
NM_207122.2(EXT2):c.*731A>G rs886048281 0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_000127.3(EXT1):c.-536G>A rs780662536 0.00009
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn) rs199862937 0.00009
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
NM_000388.4(CASR):c.-137C>T rs201074178 0.00009
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_002451.4(MTAP):c.*2638G>A rs556394357 0.00009
NM_002451.4(MTAP):c.*2660C>A rs78176424 0.00009
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00009
NM_004364.5(CEBPA):c.277G>A (p.Ala93Thr) rs758092761 0.00009
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln) rs3820551 0.00009
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_024529.4(CDC73):c.-190G>C rs886045709 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 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_058172.6(ANTXR2):c.*4264T>A rs1055536755 0.00009
NM_058172.6(ANTXR2):c.-505G>C rs780730755 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys) rs376292686 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_002451.4(MTAP):c.*3389T>C rs765432220 0.00008
NM_003977.4(AIP):c.205A>G (p.Lys69Glu) rs141223463 0.00008
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546 0.00008
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr) rs781129632 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met) rs369776863 0.00008
NM_024529.5(CDC73):c.876A>G (p.Arg292=) rs909578765 0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_058172.6(ANTXR2):c.*380T>C rs1040964075 0.00008
NM_058172.6(ANTXR2):c.*559G>A rs755763454 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr) rs146086025 0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.744-6T>A rs755926713 0.00008
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000127.3(EXT1):c.-667C>G rs886062643 0.00007
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile) rs920291906 0.00007
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_002451.4(MTAP):c.*1760A>G rs886063788 0.00007
NM_002451.4(MTAP):c.*3057T>A rs887122969 0.00007
NM_002451.4(MTAP):c.-52G>C rs949068748 0.00007
NM_002451.4(MTAP):c.224A>G (p.Gln75Arg) rs764365358 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_004304.5(ALK):c.3115G>A (p.Val1039Met) rs200080181 0.00007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser) rs375889530 0.00007
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 0.00007
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) rs374964318 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_024529.5(CDC73):c.*2625A>G rs531872328 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.648T>A (p.Ala216=) rs143149579 0.00007
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_058172.6(ANTXR2):c.*1099C>T rs939743640 0.00007
NM_058172.6(ANTXR2):c.*2306A>G rs1003608735 0.00007
NM_058172.6(ANTXR2):c.*3843G>A rs540121683 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_207122.2(EXT2):c.-45G>T rs1276665372 0.00007
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_000038.6(APC):c.1193A>G (p.Lys398Arg) rs145912662 0.00006
NM_000038.6(APC):c.2719G>C (p.Gly907Arg) rs771458366 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln) rs745890180 0.00006
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe) rs772883826 0.00006
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser) rs750116273 0.00006
NM_000388.4(CASR):c.-111C>A rs201098532 0.00006
NM_000388.4(CASR):c.2209G>A (p.Val737Ile) rs200318708 0.00006
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) rs149055633 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_002451.4(MTAP):c.278C>T (p.Thr93Ile) rs759117703 0.00006
NM_002451.4(MTAP):c.572C>T (p.Ala191Val) rs200708704 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00006
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_004304.5(ALK):c.2633-3C>T rs200341945 0.00006
NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser) rs375833261 0.00006
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val) rs372931505 0.00006
NM_004364.5(CEBPA):c.827A>G (p.Lys276Arg) rs201061067 0.00006
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 0.00006
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser) rs764599897 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val) rs760633411 0.00006
NM_022124.6(CDH23):c.1699G>A (p.Val567Met) rs377148854 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp) rs201579860 0.00006
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) rs202147495 0.00006
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_024529.5(CDC73):c.*1599A>G rs543573271 0.00006
NM_024529.5(CDC73):c.*2801A>G rs999015399 0.00006
NM_024529.5(CDC73):c.*2962T>C rs147904515 0.00006
NM_024529.5(CDC73):c.*948C>T rs761544591 0.00006
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_058172.6(ANTXR2):c.*3707G>A rs534524069 0.00006
NM_058172.6(ANTXR2):c.*4332G>A rs1053639062 0.00006
NM_058172.6(ANTXR2):c.*5524C>T rs927201999 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_207122.2(EXT2):c.*381T>C rs886048280 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln) rs141256266 0.00006
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg) rs367897723 0.00006
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn) rs200631641 0.00006
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000127.3(EXT1):c.-57G>C rs886062636 0.00005
NM_000388.4(CASR):c.*251G>C rs904222689 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_002451.4(MTAP):c.*2937C>G rs536527668 0.00005
NM_002451.4(MTAP):c.*3060A>G rs1179074073 0.00005
NM_002451.4(MTAP):c.*3206C>T rs886063793 0.00005
NM_002451.4(MTAP):c.*395A>G rs1050551130 0.00005
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser) rs1455462308 0.00005
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp) rs112330156 0.00005
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys) rs771858198 0.00005
NM_024529.5(CDC73):c.*1251A>G rs550417983 0.00005
NM_058172.6(ANTXR2):c.*4668T>C rs544590235 0.00005
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val) rs372562244 0.00005
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp) rs199499401 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu) rs776907891 0.00005
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu) rs772530256 0.00005
NM_207122.2(EXT2):c.284G>A (p.Arg95His) rs143703574 0.00005
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp) rs757297287 0.00005
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) rs146316660 0.00005
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.5894A>C (p.His1965Pro) rs773776516 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe) rs72541815 0.00004
NM_000038.6(APC):c.776G>A (p.Arg259Gln) rs767457050 0.00004
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_000222.3(KIT):c.2104C>G (p.Leu702Val) rs768847037 0.00004
NM_000388.4(CASR):c.1913G>A (p.Arg638His) rs201852643 0.00004
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115 0.00004
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) rs199734455 0.00004
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) rs775066593 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn) rs373563053 0.00004
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00004
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00004
NM_001127511.3(APC):c.-167G>A rs1278244063 0.00004
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) rs2056451758 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_002451.4(MTAP):c.*3276A>G rs1038408600 0.00004
NM_002451.4(MTAP):c.*3774A>G rs949366316 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_003977.4(AIP):c.70G>C (p.Glu24Gln) rs267606568 0.00004
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp) rs746522150 0.00004
NM_004364.5(CEBPA):c.142G>A (p.Ala48Thr) rs892805896 0.00004
NM_004364.5(CEBPA):c.155T>C (p.Leu52Pro) rs936973108 0.00004
NM_004364.5(CEBPA):c.325C>T (p.Pro109Ser) rs1027991203 0.00004
NM_004364.5(CEBPA):c.392A>T (p.Tyr131Phe) rs1300977671 0.00004
NM_004364.5(CEBPA):c.860T>C (p.Val287Ala) rs1250168874 0.00004
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp) rs1306818311 0.00004
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu) rs533554769 0.00004
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys) rs143975631 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005373.3(MPL):c.548C>T (p.Thr183Met) rs137952228 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284 0.00004
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg) rs41281306 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2804G>A (p.Arg935His) rs748194042 0.00004
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) rs548937425 0.00004
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys) rs755800639 0.00004
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) rs749501038 0.00004
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln) rs763303827 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_024529.5(CDC73):c.*1074A>T rs886045718 0.00004
NM_024529.5(CDC73):c.*1092A>G rs886045720 0.00004
NM_024529.5(CDC73):c.*2455C>T rs886045729 0.00004
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu) rs781161922 0.00004
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) rs746362966 0.00004
NM_058172.6(ANTXR2):c.*3105A>G rs982853737 0.00004
NM_058172.6(ANTXR2):c.*4847C>T rs763414805 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_207122.1(EXT2):c.-307G>T rs569630494 0.00004
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys) rs781283626 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg) rs200032672 0.00004
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn) rs549810739 0.00004
NM_207122.2(EXT2):c.94A>G (p.Ile32Val) rs769478020 0.00004
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) rs145611597 0.00004
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn) rs148493676 0.00004
NM_000038.6(APC):c.1241G>A (p.Arg414His) rs730881233 0.00003
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly) rs587779807 0.00003
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931 0.00003
NM_000038.6(APC):c.854A>G (p.Asp285Gly) rs201093383 0.00003
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe) rs80358985 0.00003
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile) rs371233961 0.00003
NM_000127.3(EXT1):c.1143C>T (p.Gly381=) rs376640197 0.00003
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp) rs756701753 0.00003
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly) rs147847222 0.00003
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly) rs374887549 0.00003
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser) rs773828910 0.00003
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733 0.00003
NM_000388.4(CASR):c.*103A>C rs199899073 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269 0.00003
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu) rs1007139212 0.00003
NM_001042492.3(NF1):c.100G>A (p.Val34Ile) rs772995929 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916 0.00003
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala) rs370209920 0.00003
NM_001127511.3(APC):c.-32C>T rs1015952631 0.00003
NM_001127511.3(APC):c.-88T>G rs531931776 0.00003
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660 0.00003
NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr) rs922736848 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met) rs758682659 0.00003
NM_002070.4(GNAI2):c.879G>A (p.Gly293=) rs143863348 0.00003
NM_002451.4(MTAP):c.*2383C>T rs886063791 0.00003
NM_002451.4(MTAP):c.*3160T>C rs1228548595 0.00003
NM_002451.4(MTAP):c.*3501T>C rs949232383 0.00003
NM_002451.4(MTAP):c.300G>A (p.Glu100=) rs762121645 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_003977.4(AIP):c.406G>T (p.Ala136Ser) rs775549178 0.00003
NM_003977.4(AIP):c.563G>A (p.Arg188Gln) rs866556486 0.00003
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn) rs768366852 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.256C>T (p.Arg86Trp) rs1555742243 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_004364.5(CEBPA):c.568T>C (p.Ser190Pro) rs867463920 0.00003
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.22A>G (p.Met8Val) rs572208458 0.00003
NM_005373.3(MPL):c.712G>T (p.Gly238Cys) rs144210383 0.00003
NM_005373.3(MPL):c.932C>T (p.Ser311Phe) rs776753502 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_022124.6(CDH23):c.227G>A (p.Arg76His) rs373802615 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp) rs756231829 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile) rs763947401 0.00003
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys) rs370922401 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr) rs780514498 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00003
NM_024529.5(CDC73):c.*2963A>G rs886045731 0.00003
NM_024529.5(CDC73):c.*2982T>C rs886045732 0.00003
NM_024529.5(CDC73):c.*463A>G rs879039427 0.00003
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.1417+9C>T rs769784756 0.00003
NM_024529.5(CDC73):c.1418-10C>G rs768713729 0.00003
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) rs145694828 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_058172.6(ANTXR2):c.*1682T>C rs962595800 0.00003
NM_058172.6(ANTXR2):c.*3473A>G rs1427833463 0.00003
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) rs770869771 0.00003
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val) rs530888685 0.00003
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp) rs377185226 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_207122.2(EXT2):c.*339C>T rs759615273 0.00003
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu) rs773613001 0.00003
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala) rs1470381472 0.00003
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys) rs145507609 0.00003
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) rs771039412 0.00003
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys) rs762657738 0.00003
NM_207122.2(EXT2):c.626+3A>C rs200934340 0.00003
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp) rs183424469 0.00003
NM_000038.6(APC):c.1538T>C (p.Val513Ala) rs876658167 0.00002
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser) rs760999992 0.00002
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) rs764706774 0.00002
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) rs749142480 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser) rs377308875 0.00002
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035 0.00002
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly) rs767286063 0.00002
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe) rs763107867 0.00002
NM_000127.3(EXT1):c.1705G>A (p.Val569Met) rs1428345482 0.00002
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro) rs758347621 0.00002
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp) rs765050783 0.00002
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln) rs748651137 0.00002
NM_000222.3(KIT):c.2057G>A (p.Arg686His) rs143772138 0.00002
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter) rs139000082 0.00002
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp) rs587778433 0.00002
NM_000321.3(RB1):c.850A>G (p.Asn284Asp) rs761609284 0.00002
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) rs942603230 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) rs766445416 0.00002
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser) rs763865303 0.00002
NM_000388.4(CASR):c.2669G>A (p.Arg890His) rs567996888 0.00002
NM_000388.4(CASR):c.2687G>A (p.Arg896His) rs773552397 0.00002
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831 0.00002
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln) rs1343309278 0.00002
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser) rs752396270 0.00002
NM_001042492.3(NF1):c.2458G>A (p.Val820Met) rs761408020 0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys) rs771420960 0.00002
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala) rs1033427343 0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=) rs199703296 0.00002
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala) rs142867979 0.00002
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser) rs763082717 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 0.00002
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys) rs762169098 0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro) rs1408720761 0.00002
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr) rs138312605 0.00002
NM_003977.4(AIP):c.727G>T (p.Val243Leu) rs1385147597 0.00002
NM_003977.4(AIP):c.784G>A (p.Asp262Asn) rs758918509 0.00002
NM_003977.4(AIP):c.908G>A (p.Ser303Asn) rs1006697477 0.00002
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr) rs758494304 0.00002
NM_004327.4(BCR):c.2356G>A (p.Ala786Thr) rs1259370853 0.00002
NM_004364.5(CEBPA):c.*5C>T rs375735989 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.261G>T (p.Gln87His) rs868242502 0.00002
NM_004364.5(CEBPA):c.535T>C (p.Phe179Leu) rs1033194020 0.00002
NM_004364.5(CEBPA):c.551C>G (p.Pro184Arg) rs1457318927 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_005188.4(CBL):c.1463C>T (p.Ala488Val) rs377502790 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) rs144894769 0.00002
NM_005188.4(CBL):c.2350G>A (p.Val784Met) rs140725852 0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) rs147438359 0.00002
NM_005188.4(CBL):c.664A>C (p.Met222Leu) rs773611782 0.00002
NM_005188.4(CBL):c.838C>T (p.Arg280Trp) rs730880432 0.00002
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile) rs971458513 0.00002
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00002
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro) rs587778513 0.00002
NM_005373.3(MPL):c.1805T>C (p.Met602Thr) rs770770219 0.00002
NM_005373.3(MPL):c.292C>G (p.Gln98Glu) rs752682807 0.00002
NM_005373.3(MPL):c.775G>A (p.Glu259Lys) rs528834914 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly) rs769053835 0.00002
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln) rs781879080 0.00002
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser) rs782332983 0.00002
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) rs782141957 0.00002
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494 0.00002
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) rs1295355040 0.00002
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344 0.00002
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) rs376614796 0.00002
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547 0.00002
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr) rs185819621 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) rs763119683 0.00002
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_024529.5(CDC73):c.*1789G>A rs1323646186 0.00002
NM_024529.5(CDC73):c.*3342G>A rs1174982740 0.00002
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn) rs971586985 0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=) rs752298916 0.00002
NM_024529.5(CDC73):c.450A>G (p.Lys150=) rs779144943 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile) rs775193384 0.00002
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys) rs140047487 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_058172.6(ANTXR2):c.*1397G>A rs117533033 0.00002
NM_058172.6(ANTXR2):c.*1476G>A rs572394273 0.00002
NM_058172.6(ANTXR2):c.*1501G>T rs1470947336 0.00002
NM_058172.6(ANTXR2):c.*3533G>A rs746570017 0.00002
NM_058172.6(ANTXR2):c.*4194C>T rs1005734569 0.00002
NM_058172.6(ANTXR2):c.*5527A>G rs777700684 0.00002
NM_058172.6(ANTXR2):c.252G>A (p.Val84=) rs886059657 0.00002
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_207122.2(EXT2):c.-26G>T rs369437823 0.00002
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) rs758785296 0.00002
NM_207122.2(EXT2):c.1079+5G>A rs773025398 0.00002
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr) rs199711832 0.00002
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00002
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly) rs760086935 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) rs752606551 0.00002
NM_207122.2(EXT2):c.343G>A (p.Val115Met) rs1470293557 0.00002
NM_207122.2(EXT2):c.497G>A (p.Arg166His) rs772821141 0.00002
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys) rs117329700 0.00002
NM_207122.2(EXT2):c.890G>A (p.Arg297His) rs773482624 0.00002
NM_000038.6(APC):c.2114G>A (p.Ser705Asn) rs752874220 0.00001
NM_000038.6(APC):c.212G>A (p.Arg71His) rs750503329 0.00001
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437 0.00001
NM_000038.6(APC):c.3515A>T (p.His1172Leu) rs1024630299 0.00001
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg) rs1479009365 0.00001
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala) rs759441332 0.00001
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526 0.00001
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr) rs752038930 0.00001
NM_000038.6(APC):c.5615T>A (p.Val1872Asp) rs748389037 0.00001
NM_000038.6(APC):c.5627G>T (p.Arg1876Met) rs773201570 0.00001
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096 0.00001
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser) rs767691072 0.00001
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470 0.00001
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu) rs757874563 0.00001
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe) rs431825308 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000127.3(EXT1):c.*182A>C rs949394800 0.00001
NM_000127.3(EXT1):c.-717G>C rs1381790284 0.00001
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys) rs757411850 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val) rs773539946 0.00001
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys) rs1375505148 0.00001
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys) rs750748090 0.00001
NM_000127.3(EXT1):c.1504G>A (p.Val502Met) rs778048374 0.00001
NM_000127.3(EXT1):c.1536+6C>T rs765347315 0.00001
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly) rs1368926188 0.00001
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp) rs777698557 0.00001
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu) rs1305323658 0.00001
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg) rs1309175788 0.00001
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val) rs1823254644 0.00001
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp) rs146967463 0.00001
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn) rs1252579899 0.00001
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val) rs773393953 0.00001
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys) rs1373349863 0.00001
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg) rs1188494289 0.00001
NM_000127.3(EXT1):c.252G>C (p.Gln84His) rs376231630 0.00001
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu) rs778849200 0.00001
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly) rs1384997375 0.00001
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg) rs146127753 0.00001
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu) rs752226935 0.00001
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg) rs773394301 0.00001
NM_000127.3(EXT1):c.419G>T (p.Gly140Val) rs769557488 0.00001
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys) rs776678803 0.00001
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser) rs753036738 0.00001
NM_000127.3(EXT1):c.725C>T (p.Pro242Leu) rs906230630 0.00001
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp) rs1394508840 0.00001
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu) rs569408054 0.00001
NM_000222.3(KIT):c.2863G>T (p.Val955Leu) rs1060502568 0.00001
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys) rs1232060384 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr) rs181988132 0.00001
NM_000321.3(RB1):c.269G>T (p.Gly90Val) rs554727080 0.00001
NM_000321.3(RB1):c.352A>T (p.Thr118Ser) rs1429553692 0.00001
NM_000321.3(RB1):c.752G>A (p.Arg251Gln) rs772678500 0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) rs371093730 0.00001
NM_000388.4(CASR):c.*1298A>G rs1470056406 0.00001
NM_000388.4(CASR):c.*625G>A rs886057833 0.00001
NM_000388.4(CASR):c.-10C>T rs753659949 0.00001
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002 0.00001
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541 0.00001
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851 0.00001
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) rs148573275 0.00001
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu) rs377282860 0.00001
NM_000388.4(CASR):c.118A>G (p.Ile40Val) rs1458833527 0.00001
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) rs202101164 0.00001
NM_000388.4(CASR):c.1283C>T (p.Ala428Val) rs895543540 0.00001
NM_000388.4(CASR):c.1297G>C (p.Asp433His) rs199511990 0.00001
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) rs140347078 0.00001
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) rs768660050 0.00001
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) rs1185593894 0.00001
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724 0.00001
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) rs199957040 0.00001
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) rs768204447 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610 0.00001
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256 0.00001
NM_000388.4(CASR):c.232A>G (p.Ile78Val) rs769294626 0.00001
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) rs746541034 0.00001
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser) rs200777304 0.00001
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) rs1392921552 0.00001
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) rs200883282 0.00001
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712 0.00001
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp) rs769439564 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) rs749748004 0.00001
NM_000388.4(CASR):c.614G>A (p.Arg205His) rs763162046 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.857G>A (p.Arg286His) rs922511747 0.00001
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) rs755997016 0.00001
NM_000388.4(CASR):c.98T>G (p.Ile33Ser) rs758232331 0.00001
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_001042492.3(NF1):c.-148C>A rs886052792 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.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln) rs1466678870 0.00001
NM_001042492.3(NF1):c.1662G>T (p.Gln554His) rs147594815 0.00001
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp) rs587782592 0.00001
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr) rs1131691135 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.2054C>G (p.Thr685Ser) rs876658190 0.00001
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182 0.00001
NM_001042492.3(NF1):c.2251+5A>G rs786201934 0.00001
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys) rs1383770460 0.00001
NM_001042492.3(NF1):c.2326-9T>A rs181838967 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.2573C>G (p.Ser858Cys) rs369493270 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.2740C>T (p.Arg914Trp) rs765848298 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.3197+3A>G rs1359512152 0.00001
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly) rs201645318 0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517 0.00001
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp) rs1231174547 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.3694C>T (p.Pro1232Ser) rs1482085668 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.3778A>G (p.Met1260Val) rs1264981144 0.00001
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val) rs746583007 0.00001
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile) rs765957571 0.00001
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr) rs876660908 0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) rs1060500310 0.00001
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys) rs876660428 0.00001
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln) rs370852681 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser) rs876659607 0.00001
NM_001042492.3(NF1):c.451A>C (p.Asn151His) rs769391944 0.00001
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser) rs1567817981 0.00001
NM_001042492.3(NF1):c.4724+3A>G rs781147524 0.00001
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met) rs185660700 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=) rs1555533268 0.00001
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp) rs587782213 0.00001
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe) rs775786295 0.00001
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val) rs1160436761 0.00001
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe) rs1060500280 0.00001
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val) rs746689492 0.00001
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met) rs786203824 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.6665C>T (p.Thr2222Met) rs369803831 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln) rs1567618937 0.00001
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe) rs367734104 0.00001
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly) rs1060500318 0.00001
NM_001042492.3(NF1):c.703T>C (p.Tyr235His) rs864622465 0.00001
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys) rs56013763 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg) rs863224664 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val) rs759307070 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly) rs752162999 0.00001
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys) rs371773406 0.00001
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val) rs375176282 0.00001
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser) rs766496842 0.00001
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser) rs1555536370 0.00001
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg) rs864622266 0.00001
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His) rs778143477 0.00001
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys) rs372787215 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.7889C>G (p.Thr2630Ser) rs1283946778 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu) rs778799019 0.00001
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg) rs778233452 0.00001
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg) rs779034900 0.00001
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg) rs1219929525 0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val) rs755007999 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.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.697C>T (p.Arg233Cys) rs765528082 0.00001
NM_001754.5(RUNX1):c.764A>G (p.His255Arg) rs746977462 0.00001
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser) rs746531841 0.00001
NM_002451.4(MTAP):c.*1093G>T rs1825785660 0.00001
NM_002451.4(MTAP):c.*1399C>A rs1825792275 0.00001
NM_002451.4(MTAP):c.*2183T>C rs1825811023 0.00001
NM_002451.4(MTAP):c.*2286A>G rs1825813138 0.00001
NM_002451.4(MTAP):c.*2606G>C rs886063792 0.00001
NM_002451.4(MTAP):c.*3766C>T rs149649469 0.00001
NM_002451.4(MTAP):c.*730A>G rs1031531828 0.00001
NM_002451.4(MTAP):c.*912A>G rs1825783181 0.00001
NM_002451.4(MTAP):c.-108_-103del rs886063780 0.00001
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) rs138830253 0.00001
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln) rs397507516 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_003977.4(AIP):c.115C>T (p.Arg39Trp) rs781366620 0.00001
NM_003977.4(AIP):c.140G>A (p.Gly47Asp) rs1164577485 0.00001
NM_003977.4(AIP):c.160C>T (p.Arg54Trp) rs752553438 0.00001
NM_003977.4(AIP):c.166C>T (p.Arg56Cys) rs267606538 0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_003977.4(AIP):c.316C>T (p.Arg106Cys) rs369414668 0.00001
NM_003977.4(AIP):c.419C>T (p.Ala140Val) rs762219351 0.00001
NM_003977.4(AIP):c.468+3G>A rs868823652 0.00001
NM_003977.4(AIP):c.469-17T>C rs886037872 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) rs777083581 0.00001
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) rs1313811815 0.00001
NM_003977.4(AIP):c.79G>C (p.Asp27His) rs1024903808 0.00001
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585 0.00001
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser) rs754512910 0.00001
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584 0.00001
NM_004327.4(BCR):c.1149C>T (p.Pro383=) rs775817981 0.00001
NM_004327.4(BCR):c.685C>T (p.Pro229Ser) rs1441856766 0.00001
NM_004364.5(CEBPA):c.1000G>C (p.Glu334Gln) rs369632687 0.00001
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met) rs760372994 0.00001
NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp) rs1410617603 0.00001
NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys) rs1439202716 0.00001
NM_004364.5(CEBPA):c.1073C>G (p.Ala358Gly) rs577659401 0.00001
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser) rs1415169403 0.00001
NM_004364.5(CEBPA):c.131C>T (p.Ala44Val) rs1967197829 0.00001
NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu) rs1346240180 0.00001
NM_004364.5(CEBPA):c.139G>T (p.Ala47Ser) rs1182161658 0.00001
NM_004364.5(CEBPA):c.152C>T (p.Pro51Leu) rs1341205888 0.00001
NM_004364.5(CEBPA):c.179C>T (p.Thr60Met) rs1060502119 0.00001
NM_004364.5(CEBPA):c.187G>A (p.Asp63Asn) rs1452063514 0.00001
NM_004364.5(CEBPA):c.225C>G (p.Asp75Glu) rs949548349 0.00001
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu) rs917977456 0.00001
NM_004364.5(CEBPA):c.298G>A (p.Gly100Ser) rs1289919155 0.00001
NM_004364.5(CEBPA):c.305G>A (p.Gly102Asp) rs1358539228 0.00001
NM_004364.5(CEBPA):c.319G>T (p.Asp107Tyr) rs1158593564 0.00001
NM_004364.5(CEBPA):c.325C>G (p.Pro109Ala) rs1027991203 0.00001
NM_004364.5(CEBPA):c.331G>T (p.Ala111Ser) rs996591962 0.00001
NM_004364.5(CEBPA):c.334C>G (p.Pro112Ala) rs957253046 0.00001
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu) rs1600023321 0.00001
NM_004364.5(CEBPA):c.373C>T (p.His125Tyr) rs896656951 0.00001
NM_004364.5(CEBPA):c.379C>G (p.Pro127Ala) rs1055210725 0.00001
NM_004364.5(CEBPA):c.382C>T (p.Pro128Ser) rs1362518517 0.00001
NM_004364.5(CEBPA):c.40C>G (p.Pro14Ala) rs1379627026 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.467G>A (p.Arg156Gln) rs1198903435 0.00001
NM_004364.5(CEBPA):c.484C>A (p.Gln162Lys) rs1967182561 0.00001
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys) rs755311871 0.00001
NM_004364.5(CEBPA):c.51C>A (p.Ser17Arg) rs1245499278 0.00001
NM_004364.5(CEBPA):c.529G>C (p.Gly177Arg) rs1223584541 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.547C>T (p.Pro183Ser) rs998501847 0.00001
NM_004364.5(CEBPA):c.569C>T (p.Ser190Leu) rs1555742114 0.00001
NM_004364.5(CEBPA):c.575C>T (p.Pro192Leu) rs1247330890 0.00001
NM_004364.5(CEBPA):c.593C>T (p.Pro198Leu) rs1568419736 0.00001
NM_004364.5(CEBPA):c.59A>G (p.Gln20Arg) rs1329725504 0.00001
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser) rs1347174767 0.00001
NM_004364.5(CEBPA):c.652A>G (p.Met218Val) rs1378898437 0.00001
NM_004364.5(CEBPA):c.68C>T (p.Pro23Leu) rs1308550194 0.00001
NM_004364.5(CEBPA):c.697C>A (p.Pro233Thr) rs933936962 0.00001
NM_004364.5(CEBPA):c.733G>A (p.Gly245Ser) rs1315043080 0.00001
NM_004364.5(CEBPA):c.734G>C (p.Gly245Ala) rs1189516787 0.00001
NM_004364.5(CEBPA):c.754G>T (p.Ala252Ser) rs1049967 0.00001
NM_004364.5(CEBPA):c.773C>G (p.Ala258Gly) rs1340981881 0.00001
NM_004364.5(CEBPA):c.776C>T (p.Ala259Val) rs746895795 0.00001
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser) rs1263173603 0.00001
NM_004364.5(CEBPA):c.787C>T (p.Leu263Phe) rs1357810737 0.00001
NM_004364.5(CEBPA):c.790C>T (p.Arg264Cys) rs1228704709 0.00001
NM_004364.5(CEBPA):c.791G>C (p.Arg264Pro) rs1294426980 0.00001
NM_004364.5(CEBPA):c.803G>T (p.Gly268Val) rs780335632 0.00001
NM_004364.5(CEBPA):c.892A>C (p.Lys298Gln) rs1392203731 0.00001
NM_004364.5(CEBPA):c.893A>G (p.Lys298Arg) rs1391793930 0.00001
NM_004364.5(CEBPA):c.913C>A (p.Gln305Lys) rs747606716 0.00001
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly) rs1422138876 0.00001
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 0.00001
NM_005154.5(USP8):c.2108C>A (p.Pro703His) rs766783893 0.00001
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln) rs759585425 0.00001
NM_005188.4(CBL):c.1227+5G>A rs756550704 0.00001
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser) rs762677807 0.00001
NM_005188.4(CBL):c.1324C>A (p.Leu442Met) rs200508558 0.00001
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu) rs369547447 0.00001
NM_005188.4(CBL):c.202C>T (p.Arg68Trp) rs730880429 0.00001
NM_005188.4(CBL):c.2055A>G (p.Lys685=) rs1454595224 0.00001
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys) rs539217274 0.00001
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys) rs1465141746 0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) rs587778159 0.00001
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys) rs397507498 0.00001
NM_005188.4(CBL):c.572G>C (p.Arg191Thr) rs756736832 0.00001
NM_005188.4(CBL):c.93C>A (p.Asp31Glu) rs376679438 0.00001
NM_005373.3(MPL):c.1169G>A (p.Arg390His) rs1298113648 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp) rs938821234 0.00001
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp) rs886046351 0.00001
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu) rs561724539 0.00001
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro) rs1207248925 0.00001
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser) rs1018549208 0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) rs1328988667 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.464A>T (p.Glu155Val) rs780341646 0.00001
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr) rs1313333589 0.00001
NM_005373.3(MPL):c.809G>A (p.Gly270Glu) rs1361284210 0.00001
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1096-6T>G rs1180195480 0.00001
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690 0.00001
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896 0.00001
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) rs587780185 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp) rs770510708 0.00001
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu) rs767345324 0.00001
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013 0.00001
NM_022124.6(CDH23):c.1874G>A (p.Arg625His) rs200907423 0.00001
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe) rs1297047638 0.00001
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala) rs764332602 0.00001
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile) rs755812129 0.00001
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) rs560251790 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) rs759990271 0.00001
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) rs1299758893 0.00001
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123 0.00001
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr) rs1198525214 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr) rs753997469 0.00001
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp) rs1034848904 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_024529.4(CDC73):c.-186C>G rs886045710 0.00001
NM_024529.5(CDC73):c.*1292C>T rs895043816 0.00001
NM_024529.5(CDC73):c.*1535A>G rs1011765527 0.00001
NM_024529.5(CDC73):c.*1660A>G rs1310867519 0.00001
NM_024529.5(CDC73):c.*2651T>G rs886045730 0.00001
NM_024529.5(CDC73):c.*298A>T rs1678035186 0.00001
NM_024529.5(CDC73):c.*3714T>C rs886045737 0.00001
NM_024529.5(CDC73):c.*3783C>T rs1337028451 0.00001
NM_024529.5(CDC73):c.*3785A>G rs886045738 0.00001
NM_024529.5(CDC73):c.*3875A>G rs1678100975 0.00001
NM_024529.5(CDC73):c.*972A>G rs886045717 0.00001
NM_024529.5(CDC73):c.-121G>A rs886045711 0.00001
NM_024529.5(CDC73):c.-135C>T rs1675456932 0.00001
NM_024529.5(CDC73):c.-167A>G rs1156904196 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024529.5(CDC73):c.1066+5G>A rs1018448425 0.00001
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) rs776519655 0.00001
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu) rs774536123 0.00001
NM_024529.5(CDC73):c.1248C>T (p.Gly416=) rs780906083 0.00001
NM_024529.5(CDC73):c.138A>T (p.Gly46=) rs1572142522 0.00001
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg) rs1678015324 0.00001
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln) rs1465509067 0.00001
NM_024529.5(CDC73):c.1575T>G (p.His525Gln) rs1378278674 0.00001
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala) rs763095800 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_024529.5(CDC73):c.754A>G (p.Ile252Val) rs374290883 0.00001
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys) rs878855091 0.00001
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser) rs758391256 0.00001
NM_024529.5(CDC73):c.842G>A (p.Arg281His) rs762716583 0.00001
NM_024529.5(CDC73):c.973-23487G>A rs765816443 0.00001
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val) rs863224783 0.00001
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu) rs773829275 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.208G>T (p.Val70Phe) rs570531959 0.00001
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly) rs1161655427 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.593C>T (p.Ala198Val) rs745726293 0.00001
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr) rs375298899 0.00001
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr) rs1443864030 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_058172.6(ANTXR2):c.*1136C>T rs1026788796 0.00001
NM_058172.6(ANTXR2):c.*130A>G rs1444860170 0.00001
NM_058172.6(ANTXR2):c.*2429G>A rs995476496 0.00001
NM_058172.6(ANTXR2):c.*245A>G rs1486948818 0.00001
NM_058172.6(ANTXR2):c.*263C>T rs1726947408 0.00001
NM_058172.6(ANTXR2):c.*2839G>T rs760081751 0.00001
NM_058172.6(ANTXR2):c.*2888G>A rs1390353083 0.00001
NM_058172.6(ANTXR2):c.*3544A>G rs1437810034 0.00001
NM_058172.6(ANTXR2):c.*3597T>G rs888487534 0.00001
NM_058172.6(ANTXR2):c.*4201A>G rs952978226 0.00001
NM_058172.6(ANTXR2):c.*4462A>G rs974485555 0.00001
NM_058172.6(ANTXR2):c.*4504C>T rs1726763836 0.00001
NM_058172.6(ANTXR2):c.*4917G>A rs1340353111 0.00001
NM_058172.6(ANTXR2):c.*752C>G rs1302997320 0.00001
NM_058172.6(ANTXR2):c.-5G>A rs765908500 0.00001
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr) rs1445493382 0.00001
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp) rs369528902 0.00001
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr) rs886059658 0.00001
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) rs756775841 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) rs146744182 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) rs878855299 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NM_207122.2(EXT2):c.*862T>G rs192098481 0.00001
NM_207122.2(EXT2):c.*93G>A rs886048278 0.00001
NM_207122.2(EXT2):c.-30-10T>A rs371744028 0.00001
NM_207122.2(EXT2):c.-31+453A>G rs1032612888 0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) rs371996957 0.00001
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val) rs1279920600 0.00001
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu) rs747153343 0.00001
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val) rs1473876438 0.00001
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys) rs1403873034 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu) rs1053473840 0.00001
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu) rs1955475218 0.00001
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val) rs779292816 0.00001
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser) rs1360036719 0.00001
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser) rs1590640131 0.00001
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met) rs145279140 0.00001
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp) rs750549318 0.00001
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys) rs763384036 0.00001
NM_207122.2(EXT2):c.1575T>G (p.Pro525=) rs372914384 0.00001
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr) rs766600182 0.00001
NM_207122.2(EXT2):c.1712A>G (p.His571Arg) rs150392363 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro) rs771936445 0.00001
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp) rs755625888 0.00001
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) rs143048174 0.00001
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile) rs147587178 0.00001
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn) rs1038984851 0.00001
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu) rs762533540 0.00001
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr) rs1326355711 0.00001
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) rs550761834 0.00001
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser) rs1208541215 0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) rs202208526 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn) rs886048275 0.00001
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) rs375468766 0.00001
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) rs762292898 0.00001
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn) rs1182974716 0.00001
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
NC_000001.10:g.(?_43812096)_(43818443_?)dup
NC_000008.10:g.(?_117647788)_(120797526_?)dup
NC_000008.10:g.(?_118819446)_(119123285_?)dup
NC_000008.11:g.(?_118110065)_(118111066_?)dup
NC_000011.9:g.(?_44219359)_(44228529_?)del
NC_000019.9:g.(?_33532300)_(33793320_?)dup
NC_000019.9:g.(?_33792234)_(33793330_?)dup
NC_012920.1:m.14372C>A rs1556424431
NM_000038.6(APC):c.1333C>G (p.Gln445Glu) rs876658802
NM_000038.6(APC):c.1820G>C (p.Cys607Ser) rs1554083153
NM_000038.6(APC):c.2160G>A (p.Met720Ile) rs1283428855
NM_000038.6(APC):c.245T>C (p.Phe82Ser) rs1179254201
NM_000038.6(APC):c.2573T>C (p.Ile858Thr) rs1765215022
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr) rs1580633119
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser) rs372855304
NM_000038.6(APC):c.3490A>G (p.Ile1164Val) rs1554085052
NM_000038.6(APC):c.4332A>T (p.Gln1444His) rs748342378
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys) rs758987855
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr) rs587781600
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp) rs1766164614
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala) rs773539706
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys) rs1561612604
NM_000038.6(APC):c.7403C>T (p.Ser2468Leu)
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile) rs199806334
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu) rs1766608503
NM_000038.6(APC):c.813G>A (p.Met271Ile) rs1064793903
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser) rs1060503332
NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala) rs2137483648
NM_000059.4(BRCA2):c.2143G>T (p.Gly715Ter) rs1007336407
NM_000059.4(BRCA2):c.6902A>G (p.Glu2301Gly) rs2137537213
NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)
NM_000127.3(EXT1):c.*146G>C rs886062634
NM_000127.3(EXT1):c.*82C>G rs886062635
NM_000127.3(EXT1):c.-129A>G rs886062637
NM_000127.3(EXT1):c.-139A>G rs886062638
NM_000127.3(EXT1):c.-16G>A rs1817895495
NM_000127.3(EXT1):c.-612G>A rs886062640
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg) rs1587004341
NM_000127.3(EXT1):c.1013G>A (p.Arg338His) rs1288618931
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu) rs1206600641
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
NM_000127.3(EXT1):c.1056+4A>G
NM_000127.3(EXT1):c.1057-8T>C
NM_000127.3(EXT1):c.106C>T (p.Arg36Trp)
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
NM_000127.3(EXT1):c.10A>C (p.Lys4Gln)
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr) rs1812173796
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del) rs1782100732
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val) rs747020325
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
NM_000127.3(EXT1):c.1151G>A (p.Arg384Lys)
NM_000127.3(EXT1):c.1164+3A>G
NM_000127.3(EXT1):c.1165-3C>G rs1812078461
NM_000127.3(EXT1):c.1165-6T>G rs1812078551
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
NM_000127.3(EXT1):c.1187T>G (p.Ile396Ser)
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr) rs1812077443
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys) rs755694640
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro) rs1812075737
NM_000127.3(EXT1):c.1284+2dup
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe) rs2129749685
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
NM_000127.3(EXT1):c.131A>G (p.Asn44Ser)
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu) rs1811942159
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu) rs1430395411
NM_000127.3(EXT1):c.1355T>G (p.Leu452Trp)
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly) rs2129749125
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser) rs2129749069
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr) rs746738537
NM_000127.3(EXT1):c.1417+6T>C rs1811940247
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn) rs759514310
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
NM_000127.3(EXT1):c.1481C>T (p.Ser494Phe)
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
NM_000127.3(EXT1):c.1524G>C (p.Gln508His)
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
NM_000127.3(EXT1):c.1536+3G>A rs2129740657
NM_000127.3(EXT1):c.1536+5G>C
NM_000127.3(EXT1):c.1536G>C (p.Gln512His) rs1811889486
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
NM_000127.3(EXT1):c.1582C>T (p.Arg528Cys)
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
NM_000127.3(EXT1):c.1618G>A (p.Glu540Lys)
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr) rs751582814
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
NM_000127.3(EXT1):c.1666A>G (p.Ile556Val)
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
NM_000127.3(EXT1):c.1679C>T (p.Ala560Val)
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr) rs2130045112
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln) rs755747479
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr) rs1823251698
NM_000127.3(EXT1):c.1883+5G>A
NM_000127.3(EXT1):c.1883+6del
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del) rs1823215172
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu) rs187891947
NM_000127.3(EXT1):c.18C>G (p.Arg6=) rs1199624139
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu) rs1823214606
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
NM_000127.3(EXT1):c.197T>C (p.Val66Ala) rs1242925512
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp) rs2130046079
NM_000127.3(EXT1):c.200C>A (p.Pro67His) rs371817652
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg) rs371817652
NM_000127.3(EXT1):c.2055+5G>A rs1823212383
NM_000127.3(EXT1):c.2063G>A (p.Arg688Gln)
NM_000127.3(EXT1):c.2065G>A (p.Ala689Thr)
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys) rs1586987089
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
NM_000127.3(EXT1):c.20A>G (p.Tyr7Cys)
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met) rs756718693
NM_000127.3(EXT1):c.2125G>T (p.Ala709Ser)
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000127.3(EXT1):c.2156A>C (p.His719Pro) rs751787859
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
NM_000127.3(EXT1):c.2194C>T (p.Gln732Ter)
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs) rs2129679465
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
NM_000127.3(EXT1):c.2205T>C (p.Ile735=) rs1823135353
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
NM_000127.3(EXT1):c.223G>T (p.Asp75Tyr)
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
NM_000127.3(EXT1):c.238A>G (p.Ile80Val) rs1817886276
NM_000127.3(EXT1):c.245C>T (p.Pro82Leu)
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
NM_000127.3(EXT1):c.260A>T (p.Asp87Val) rs2130044605
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn) rs1402667727
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn) rs2130044422
NM_000127.3(EXT1):c.295C>T (p.Arg99Cys)
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu) rs1817884143
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe) rs769143352
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe) rs2130044245
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg) rs1178109514
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu) rs761940324
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe) rs1817880635
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser) rs1188458258
NM_000127.3(EXT1):c.439G>T (p.Asp147Tyr)
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg) rs1817880148
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr) rs2130043370
NM_000127.3(EXT1):c.46T>G (p.Cys16Gly)
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
NM_000127.3(EXT1):c.47G>C (p.Cys16Ser)
NM_000127.3(EXT1):c.481T>G (p.Leu161Val)
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro) rs1227559201
NM_000127.3(EXT1):c.49C>T (p.Leu17Phe)
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp) rs1448140995
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser) rs1817878624
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
NM_000127.3(EXT1):c.537G>C (p.Gln179His)
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
NM_000127.3(EXT1):c.544C>T (p.His182Tyr)
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys) rs775696069
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser) rs1817877271
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr) rs1817877229
NM_000127.3(EXT1):c.568_570del (p.His190del) rs1817877188
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn) rs1817877044
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu) rs2130042837
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala) rs1817876310
NM_000127.3(EXT1):c.596C>A (p.Thr199Asn)
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys) rs1817876148
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe) rs1817893321
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
NM_000127.3(EXT1):c.654A>C (p.Lys218Asn)
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly) rs1554601506
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
NM_000127.3(EXT1):c.692_694del (p.Asp231del) rs1817873196
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg) rs1817893036
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
NM_000127.3(EXT1):c.746G>A (p.Gly249Glu)
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu) rs1436385815
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser) rs1817871592
NM_000127.3(EXT1):c.773C>A (p.Pro258His) rs2130041856
NM_000127.3(EXT1):c.775C>T (p.Leu259Phe)
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile) rs2130041754
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr) rs2130041549
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr) rs1586279403
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu) rs372750330
NM_000127.3(EXT1):c.874G>T (p.Val292Phe) rs1586279359
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser) rs1817868656
NM_000127.3(EXT1):c.901G>A (p.Gly301Ser)
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg) rs1413726979
NM_000127.3(EXT1):c.914A>G (p.Gln305Arg)
NM_000127.3(EXT1):c.923A>G (p.Lys308Arg)
NM_000127.3(EXT1):c.934_936del (p.Cys312del) rs1817867722
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser) rs748945641
NM_000127.3(EXT1):c.962+5G>C
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
NM_000127.3(EXT1):c.977A>G (p.Glu326Gly)
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer) rs2129791337
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly) rs1060502545
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys) rs1722933723
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala) rs773709702
NM_000222.3(KIT):c.302A>G (p.His101Arg) rs1274601103
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.3(RB1):c.276T>G (p.Ile92Met) rs1555282772
NM_000388.4(CASR):c.*1011T>A rs922763349
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys) rs201338034
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser) rs1553766916
NM_000388.4(CASR):c.130G>A (p.Val44Ile) rs2074530467
NM_000388.4(CASR):c.1354A>G (p.Ile452Val) rs756206452
NM_000388.4(CASR):c.1390C>G (p.Leu464Val) rs778165189
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) rs2107643445
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) rs1156349993
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.183C>T (p.Ile61=) rs2074531684
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) rs199513106
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) rs2107649522
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) rs1576877437
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) rs759337909
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser) rs754332943
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile) rs754332943
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr) rs2074939751
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn) rs766445416
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) rs749125441
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) rs1060502843
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000546.6(TP53):c.-29+4907G>T
NM_000546.6(TP53):c.-29+4908G>C
NM_000546.6(TP53):c.-29+4914G>T
NM_000546.6(TP53):c.-29+4915del
NM_000546.6(TP53):c.-29+4952G>C
NM_000546.6(TP53):c.-29+5027A>T
NM_000546.6(TP53):c.-29+5029A>G
NM_000546.6(TP53):c.-29+5139C>A
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_000546.6(TP53):c.993+13G>A rs369599972
NM_000546.6(TP53):c.993+44C>A
NM_000546.6(TP53):c.993+86del
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met) rs2143873647
NM_001042492.3(NF1):c.1185+20T>G rs2066522265
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser) rs786202145
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.1361G>A (p.Cys454Tyr) rs983914251
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.3(NF1):c.1392+5G>A rs199999754
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg) rs775369084
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser) rs1567786804
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser) rs1555612858
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.1721+6T>C rs2144005065
NM_001042492.3(NF1):c.1722-13T>G
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) rs864622210
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu) rs876660272
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.2001+5G>T rs2144028091
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.2128_2142del (p.Phe710_Cys714del)
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
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.2233A>G (p.Ser745Gly) rs786201865
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp) rs2151426135
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr) rs786202504
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2326-5T>G
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
NM_001042492.3(NF1):c.2410-5T>A rs2151428754
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
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.2569A>G (p.Asn857Asp)
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.2783C>T (p.Ala928Val) rs2067073386
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
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.289-6T>C rs757074803
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys) rs1555614496
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu) rs753082620
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile) rs1567849826
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile) rs2151431668
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.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.3406C>T (p.Arg1136Trp) rs1341314304
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile) rs1555615024
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.3691G>A (p.Val1231Ile)
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly) 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.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.3821T>C (p.Leu1274Pro)
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr) rs1597722661
NM_001042492.3(NF1):c.389A>T (p.His130Leu) rs876660277
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.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr) rs745931495
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys) rs1555618495
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.4239T>G (p.Phe1413Leu) rs1597744644
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met) rs1555618562
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp) rs1567862071
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu) rs757953485
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr) rs2067662991
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro) rs876660162
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala) rs876660162
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.4572C>A (p.Ser1524Arg) rs1597747170
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp) rs1555618861
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp) rs2151466343
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.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.4841A>G (p.Lys1614Arg)
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser) rs1466167635
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg) rs2151538392
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln) rs1555533367
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr) rs767469374
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
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.5385T>A (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr) rs1555533589
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.5503C>A (p.Gln1835Lys)
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe) rs1567612641
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr) rs786203416
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys) rs2151541898
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
NM_001042492.3(NF1):c.5812+489C>G
NM_001042492.3(NF1):c.5813-1042A>G
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val) rs775480099
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val) rs1567616649
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn) rs761029453
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu) rs876660000
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro) rs2069690617
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn) rs1597843887
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe) rs886052801
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330
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.6887T>C (p.Ile2296Thr) rs1212022548
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg) rs765418194
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.7027C>T (p.His2343Tyr) rs781578248
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys) rs2069794814
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu) rs2069866148
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val) rs1022562410
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp) rs1567620403
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=) rs2069867490
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile) rs1425642121
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro) rs1060500302
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.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser) rs1291550449
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.7513G>C (p.Ala2505Pro) rs786202955
NM_001042492.3(NF1):c.757G>C (p.Val253Leu) rs786203607
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr) rs1555536690
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln) rs1060503906
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.7838C>A (p.Pro2613Gln) rs750972729
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu) rs1555536713
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr) rs587781791
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met) rs2070326229
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu) rs2070328290
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val) rs760973918
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.8357C>T (p.Ala2786Val) rs2070377037
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.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.8475A>C (p.Arg2825Ser)
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val) rs2151601629
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_001042492.3(NF1):c.888+652G>A
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT rs2143871690
NM_001042492.3(NF1):c.889-21C>A rs753797445
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.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg) rs1555604887
NM_001083603.3(PTCH1):c.109del (p.Cys37fs) rs1554710890
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del) rs864309497
NM_001127208.3(TET2):c.3782G>A (p.Arg1261His)
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001127511.3(APC):c.-142G>A rs951500465
NM_001146696.2(KDM4C):c.11A>G (p.Tyr4Cys)
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala) rs150803413
NM_001346413.3(PCF11):c.3618del (p.Phe1206fs) rs864309498
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr) rs794727100
NM_001754.5(RUNX1):c.*83G>A rs2145870845
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val) rs1273605678
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.1197C>A (p.Ser399Arg) rs1555884864
NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
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.1409C>T (p.Ala470Val) rs1601331921
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val) rs2058002974
NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro) rs1555899722
NM_001754.5(RUNX1):c.340A>G (p.Ile114Val) rs2146407952
NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)
NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile) rs763464804
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val) rs2057884016
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.739C>T (p.Pro247Ser) rs2057112093
NM_001754.5(RUNX1):c.82_84del (p.Ser28del) rs775050403
NM_002221.4(ITPKB):c.518G>A (p.Arg173His)
NM_002451.4(MTAP):c.*1140A>G rs886063785
NM_002451.4(MTAP):c.*1197C>G rs886063786
NM_002451.4(MTAP):c.*1558G>C rs989103885
NM_002451.4(MTAP):c.*1608del rs886063787
NM_002451.4(MTAP):c.*1621_*1622del rs11358276
NM_002451.4(MTAP):c.*1668T>C rs1040775189
NM_002451.4(MTAP):c.*1831T>A rs886063789
NM_002451.4(MTAP):c.*1836C>G rs768066844
NM_002451.4(MTAP):c.*2111A>G rs1825809798
NM_002451.4(MTAP):c.*2171G>A rs886063790
NM_002451.4(MTAP):c.*2333C>G rs1587259830
NM_002451.4(MTAP):c.*254A>T rs897835622
NM_002451.4(MTAP):c.*258del rs886063782
NM_002451.4(MTAP):c.*2693G>A rs1825822182
NM_002451.4(MTAP):c.*2740G>A rs1460775302
NM_002451.4(MTAP):c.*303G>A rs140440868
NM_002451.4(MTAP):c.*3656A>G rs1825841895
NM_002451.4(MTAP):c.*3692G>A rs1418873617
NM_002451.4(MTAP):c.*378T>C rs886063783
NM_002451.4(MTAP):c.*3943G>A rs886063794
NM_002451.4(MTAP):c.*795A>T rs1317482370
NM_002451.4(MTAP):c.119A>G (p.Lys40Arg) rs760959805
NM_002451.4(MTAP):c.187A>G (p.Arg63Gly) rs886063781
NM_002520.7(NPM1):c.*101T>C rs530255077
NM_002520.7(NPM1):c.*1del rs2113301429
NM_002520.7(NPM1):c.*29A>T rs200638434
NM_002520.7(NPM1):c.*2A>G rs2113301446
NM_002520.7(NPM1):c.*33T>C rs2113301714
NM_002520.7(NPM1):c.*73T>C rs2113302170
NM_002520.7(NPM1):c.*75C>T rs2113302182
NM_002520.7(NPM1):c.*76T>C rs2113302197
NM_002520.7(NPM1):c.*80T>A rs2113302213
NM_002520.7(NPM1):c.*81A>T rs1271696160
NM_002520.7(NPM1):c.*98C>T rs2113302335
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg) rs2038442309
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs) rs864309496
NM_003200.5(TCF3):c.1303C>G (p.Leu435Val)
NM_003200.5(TCF3):c.632C>A (p.Pro211His)
NM_003200.5(TCF3):c.760G>T (p.Gly254Cys)
NM_003483.6(HMGA2):c.283-2A>G rs1592471112
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-85C>T rs1565180279
NM_003977.4(AIP):c.102C>G (p.Ala34=) rs886048584
NM_003977.4(AIP):c.136G>A (p.Glu46Lys) rs772580337
NM_003977.4(AIP):c.151G>A (p.Asp51Asn) rs1591042638
NM_003977.4(AIP):c.164C>T (p.Ala55Val) rs1865805899
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
NM_003977.4(AIP):c.249G>A (p.Gly83=) rs104895072
NM_003977.4(AIP):c.261G>C (p.Gln87His) rs767982777
NM_003977.4(AIP):c.279G>A (p.Lys93=)
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
NM_003977.4(AIP):c.474G>T (p.Glu158Asp) rs1245383191
NM_003977.4(AIP):c.485C>T (p.Thr162Met) rs764344774
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
NM_003977.4(AIP):c.660C>T (p.Ser220=) rs776495655
NM_003977.4(AIP):c.662C>T (p.Pro221Leu) rs1426023503
NM_003977.4(AIP):c.787+10G>A rs776322323
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro) rs762569153
NM_004304.5(ALK):c.164C>A (p.Ala55Glu) rs1217013970
NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs) rs372013175
NM_004364.5(CEBPA):c.*31G>C rs2145257862
NM_004364.5(CEBPA):c.*6G>A rs2145257960
NM_004364.5(CEBPA):c.*86C>T rs991316142
NM_004364.5(CEBPA):c.*87G>A rs1967150654
NM_004364.5(CEBPA):c.*93T>G rs1600020107
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys) rs369632687
NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter)
NM_004364.5(CEBPA):c.1007A>G (p.Asp336Gly) rs2145258387
NM_004364.5(CEBPA):c.100C>T (p.Pro34Ser) rs996435066
NM_004364.5(CEBPA):c.1011G>C (p.Thr337=)
NM_004364.5(CEBPA):c.1019G>C (p.Gly340Ala)
NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val) rs1967158283
NM_004364.5(CEBPA):c.1025dup (p.Arg343fs) rs1967158182
NM_004364.5(CEBPA):c.1028G>A (p.Arg343His) rs1264760427
NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu) rs1967157714
NM_004364.5(CEBPA):c.1035G>A (p.Leu345=)
NM_004364.5(CEBPA):c.1035G>T (p.Leu345=)
NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg) rs1967157361
NM_004364.5(CEBPA):c.1039G>C (p.Glu347Gln)
NM_004364.5(CEBPA):c.103C>T (p.Arg35Trp) rs1238054852
NM_004364.5(CEBPA):c.1044C>G (p.Ser348Arg)
NM_004364.5(CEBPA):c.1045T>A (p.Ser349Thr)
NM_004364.5(CEBPA):c.1045T>C (p.Ser349Pro) rs1060502117
NM_004364.5(CEBPA):c.1046_1048del (p.Ser349del)
NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln) rs1967200345
NM_004364.5(CEBPA):c.1051G>C (p.Val351Leu) rs373210526
NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr) rs1317158199
NM_004364.5(CEBPA):c.1060A>C (p.Met354Leu) rs1060502122
NM_004364.5(CEBPA):c.1063G>A (p.Gly355Ser)
NM_004364.5(CEBPA):c.1064G>A (p.Gly355Asp) rs1358286265
NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val) rs1358286265
NM_004364.5(CEBPA):c.1066A>T (p.Asn356Tyr) rs543441756
NM_004364.5(CEBPA):c.1069T>A (p.Cys357Ser)
NM_004364.5(CEBPA):c.1069_*2del (p.Cys357fs)
NM_004364.5(CEBPA):c.106G>A (p.Gly36Ser) rs1967200117
NM_004364.5(CEBPA):c.1070G>A (p.Cys357Tyr)
NM_004364.5(CEBPA):c.1071C>A (p.Cys357Ter)
NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp) rs1162154287
NM_004364.5(CEBPA):c.1073C>T (p.Ala358Val) rs577659401
NM_004364.5(CEBPA):c.1074G>A (p.Ala358=)
NM_004364.5(CEBPA):c.109G>A (p.Ala37Thr) rs1404014711
NM_004364.5(CEBPA):c.110C>T (p.Ala37Val)
NM_004364.5(CEBPA):c.112G>A (p.Gly38Ser)
NM_004364.5(CEBPA):c.112G>T (p.Gly38Cys)
NM_004364.5(CEBPA):c.113G>A (p.Gly38Asp) rs1967199337
NM_004364.5(CEBPA):c.115C>G (p.Pro39Ala) rs1967199149
NM_004364.5(CEBPA):c.116C>G (p.Pro39Arg)
NM_004364.5(CEBPA):c.116C>T (p.Pro39Leu) rs1060502125
NM_004364.5(CEBPA):c.118G>A (p.Ala40Thr)
NM_004364.5(CEBPA):c.119C>T (p.Ala40Val) rs1967198676
NM_004364.5(CEBPA):c.123G>C (p.Gln41His)
NM_004364.5(CEBPA):c.124C>T (p.Pro42Ser) rs1382321984
NM_004364.5(CEBPA):c.124_125delinsTT (p.Pro42Phe) rs2145264332
NM_004364.5(CEBPA):c.127C>T (p.Pro43Ser)
NM_004364.5(CEBPA):c.127_138del (p.Pro43_Pro46del) rs1967197350
NM_004364.5(CEBPA):c.132_133delinsAA (p.Pro45Thr)
NM_004364.5(CEBPA):c.133C>G (p.Pro45Ala) rs2145264273
NM_004364.5(CEBPA):c.134C>T (p.Pro45Leu)
NM_004364.5(CEBPA):c.13G>C (p.Asp5His) rs2145265106
NM_004364.5(CEBPA):c.140C>T (p.Ala47Val) rs1444506221
NM_004364.5(CEBPA):c.142G>T (p.Ala48Ser)
NM_004364.5(CEBPA):c.145C>A (p.Pro49Thr) rs2145264153
NM_004364.5(CEBPA):c.146C>G (p.Pro49Arg)
NM_004364.5(CEBPA):c.146C>T (p.Pro49Leu)
NM_004364.5(CEBPA):c.14A>C (p.Asp5Ala) rs1555742334
NM_004364.5(CEBPA):c.151C>G (p.Pro51Ala) rs1278513408
NM_004364.5(CEBPA):c.151C>T (p.Pro51Ser) rs1278513408
NM_004364.5(CEBPA):c.156G>T (p.Leu52=)
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser) rs1967196253
NM_004364.5(CEBPA):c.158G>T (p.Gly53Val) rs1600024079
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser) rs777090929
NM_004364.5(CEBPA):c.160G>C (p.Gly54Arg)
NM_004364.5(CEBPA):c.166T>A (p.Cys56Ser)
NM_004364.5(CEBPA):c.168_169delinsGA (p.Cys56_Glu57delinsTrpLys)
NM_004364.5(CEBPA):c.169G>A (p.Glu57Lys)
NM_004364.5(CEBPA):c.16T>A (p.Phe6Ile) rs1600024682
NM_004364.5(CEBPA):c.171G>C (p.Glu57Asp) rs1967195766
NM_004364.5(CEBPA):c.171G>T (p.Glu57Asp)
NM_004364.5(CEBPA):c.174C>A (p.His58Gln)
NM_004364.5(CEBPA):c.174C>G (p.His58Gln) rs878854699
NM_004364.5(CEBPA):c.178A>T (p.Thr60Ser) rs1060502120
NM_004364.5(CEBPA):c.184A>G (p.Ile62Val) rs558462037
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met) rs1967195162
NM_004364.5(CEBPA):c.187G>C (p.Asp63His) rs1452063514
NM_004364.5(CEBPA):c.190A>G (p.Ile64Val) rs1600023975
NM_004364.5(CEBPA):c.192C>T (p.Ile64=)
NM_004364.5(CEBPA):c.195C>G (p.Ser65Arg)
NM_004364.5(CEBPA):c.196G>A (p.Ala66Thr) rs1967194734
NM_004364.5(CEBPA):c.196G>T (p.Ala66Ser)
NM_004364.5(CEBPA):c.198C>T (p.Ala66=)
NM_004364.5(CEBPA):c.200A>C (p.Tyr67Ser)
NM_004364.5(CEBPA):c.205G>C (p.Asp69His)
NM_004364.5(CEBPA):c.207C>G (p.Asp69Glu)
NM_004364.5(CEBPA):c.208C>A (p.Pro70Thr) rs2145263768
NM_004364.5(CEBPA):c.209C>A (p.Pro70Gln) rs1600023907
NM_004364.5(CEBPA):c.209C>T (p.Pro70Leu) rs1600023907
NM_004364.5(CEBPA):c.211G>A (p.Ala71Thr) rs1555742260
NM_004364.5(CEBPA):c.212C>T (p.Ala71Val)
NM_004364.5(CEBPA):c.214G>T (p.Ala72Ser) rs2145263697
NM_004364.5(CEBPA):c.217T>G (p.Phe73Val)
NM_004364.5(CEBPA):c.218T>G (p.Phe73Cys) rs1555742258
NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del) rs1600023841
NM_004364.5(CEBPA):c.223G>A (p.Asp75Asn) rs2145263642
NM_004364.5(CEBPA):c.225C>A (p.Asp75Glu) rs949548349
NM_004364.5(CEBPA):c.226G>C (p.Glu76Gln)
NM_004364.5(CEBPA):c.227A>T (p.Glu76Val) rs2145263620
NM_004364.5(CEBPA):c.228G>C (p.Glu76Asp)
NM_004364.5(CEBPA):c.22G>A (p.Glu8Lys) rs1600024672
NM_004364.5(CEBPA):c.233T>A (p.Leu78Gln) rs1967193304
NM_004364.5(CEBPA):c.236C>A (p.Ala79Asp)
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly) rs1367071880
NM_004364.5(CEBPA):c.255C>A (p.Ser85Arg) rs1424809396
NM_004364.5(CEBPA):c.257G>T (p.Arg86Leu) rs1424468512
NM_004364.5(CEBPA):c.260A>C (p.Gln87Pro) rs1967192346
NM_004364.5(CEBPA):c.263A>G (p.Gln88Arg) rs2145263423
NM_004364.5(CEBPA):c.265_267del (p.Glu89del) rs747773004
NM_004364.5(CEBPA):c.267G>T (p.Glu89Asp)
NM_004364.5(CEBPA):c.269A>C (p.Lys90Thr) rs1600023742
NM_004364.5(CEBPA):c.26C>A (p.Ala9Glu) rs2145265055
NM_004364.5(CEBPA):c.26C>T (p.Ala9Val)
NM_004364.5(CEBPA):c.270G>T (p.Lys90Asn)
NM_004364.5(CEBPA):c.271G>C (p.Ala91Pro)
NM_004364.5(CEBPA):c.276_277delinsTT (p.Lys92_Ala93delinsAsnSer)
NM_004364.5(CEBPA):c.277_278delinsAA (p.Ala93Lys) rs878854701
NM_004364.5(CEBPA):c.278C>A (p.Ala93Glu) rs1967191835
NM_004364.5(CEBPA):c.278C>G (p.Ala93Gly) rs1967191835
NM_004364.5(CEBPA):c.278C>T (p.Ala93Val)
NM_004364.5(CEBPA):c.283G>A (p.Val95Met) rs1356845856
NM_004364.5(CEBPA):c.283G>T (p.Val95Leu) rs1356845856
NM_004364.5(CEBPA):c.284T>G (p.Val95Gly) rs2145263298
NM_004364.5(CEBPA):c.289C>T (p.Pro97Ser) rs1199712903
NM_004364.5(CEBPA):c.28G>A (p.Glu10Lys) rs1555742327
NM_004364.5(CEBPA):c.290C>T (p.Pro97Leu) rs1967191484
NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg) rs1490895935
NM_004364.5(CEBPA):c.293C>T (p.Thr98Met) rs1490895935
NM_004364.5(CEBPA):c.294_296dup (p.Gly104dup) rs1967191265
NM_004364.5(CEBPA):c.295G>A (p.Gly99Ser) rs1967191321
NM_004364.5(CEBPA):c.296GCG[3] (p.Gly102_Gly104del) rs780345232
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del) rs780345232
NM_004364.5(CEBPA):c.296GCG[5] (p.Gly104del) rs780345232
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.299G>A (p.Gly100Asp)
NM_004364.5(CEBPA):c.300C>A (p.Gly100=)
NM_004364.5(CEBPA):c.301G>A (p.Gly101Ser)
NM_004364.5(CEBPA):c.301G>T (p.Gly101Cys) rs1600023637
NM_004364.5(CEBPA):c.304G>C (p.Gly102Arg) rs1455462308
NM_004364.5(CEBPA):c.305G>C (p.Gly102Ala) rs1358539228
NM_004364.5(CEBPA):c.307G>C (p.Gly103Arg)
NM_004364.5(CEBPA):c.308G>A (p.Gly103Asp) rs2145263144
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser) rs1216191482
NM_004364.5(CEBPA):c.310_315dup (p.Gly104_Asp105dup) rs1420856782
NM_004364.5(CEBPA):c.313_315dup (p.Asp105dup) rs1568420047
NM_004364.5(CEBPA):c.316T>G (p.Phe106Val)
NM_004364.5(CEBPA):c.318T>G (p.Phe106Leu) rs1555742225
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr) rs1555742325
NM_004364.5(CEBPA):c.31C>T (p.Pro11Ser) rs1555742325
NM_004364.5(CEBPA):c.320A>G (p.Asp107Gly)
NM_004364.5(CEBPA):c.32C>A (p.Pro11Gln)
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg) rs1967204111
NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu) rs1967204111
NM_004364.5(CEBPA):c.335C>T (p.Pro112Leu) rs2145262888
NM_004364.5(CEBPA):c.343C>T (p.Pro115Ser) rs2145262821
NM_004364.5(CEBPA):c.344C>T (p.Pro115Leu)
NM_004364.5(CEBPA):c.346G>A (p.Gly116Ser)
NM_004364.5(CEBPA):c.352G>A (p.Ala118Thr)
NM_004364.5(CEBPA):c.353C>T (p.Ala118Val) rs2145262747
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile) rs902740061
NM_004364.5(CEBPA):c.355G>C (p.Val119Leu) rs902740061
NM_004364.5(CEBPA):c.355_357dup (p.Val119dup) rs2145262720
NM_004364.5(CEBPA):c.358A>G (p.Met120Val) rs1555742209
NM_004364.5(CEBPA):c.361C>A (p.Pro121Thr)
NM_004364.5(CEBPA):c.361C>G (p.Pro121Ala) rs1967187823
NM_004364.5(CEBPA):c.361C>T (p.Pro121Ser) rs1967187823
NM_004364.5(CEBPA):c.362C>A (p.Pro121His) rs1967187752
NM_004364.5(CEBPA):c.362C>T (p.Pro121Leu)
NM_004364.5(CEBPA):c.364G>A (p.Gly122Arg) rs1013724730
NM_004364.5(CEBPA):c.365G>C (p.Gly122Ala) rs1311096326
NM_004364.5(CEBPA):c.368G>T (p.Gly123Val) rs1600023321
NM_004364.5(CEBPA):c.371C>A (p.Ala124Glu)
NM_004364.5(CEBPA):c.371C>T (p.Ala124Val)
NM_004364.5(CEBPA):c.375C>A (p.His125Gln)
NM_004364.5(CEBPA):c.376G>A (p.Gly126Arg)
NM_004364.5(CEBPA):c.377G>C (p.Gly126Ala) rs2145262546
NM_004364.5(CEBPA):c.379C>T (p.Pro127Ser) rs1055210725
NM_004364.5(CEBPA):c.37C>A (p.Pro13Thr) rs961496947
NM_004364.5(CEBPA):c.37C>G (p.Pro13Ala) rs961496947
NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser) rs961496947
NM_004364.5(CEBPA):c.380C>A (p.Pro127His)
NM_004364.5(CEBPA):c.383C>G (p.Pro128Arg) rs878854702
NM_004364.5(CEBPA):c.383C>T (p.Pro128Leu) rs878854702
NM_004364.5(CEBPA):c.386C>A (p.Pro129His) rs1600023223
NM_004364.5(CEBPA):c.388G>T (p.Gly130Cys) rs919904139
NM_004364.5(CEBPA):c.389G>A (p.Gly130Asp)
NM_004364.5(CEBPA):c.389G>T (p.Gly130Val)
NM_004364.5(CEBPA):c.38C>G (p.Pro13Arg) rs2145264956
NM_004364.5(CEBPA):c.394G>A (p.Gly132Ser)
NM_004364.5(CEBPA):c.394G>C (p.Gly132Arg) rs1038352346
NM_004364.5(CEBPA):c.394G>T (p.Gly132Cys)
NM_004364.5(CEBPA):c.394_414dup (p.Gly132_Tyr138dup) rs2145262280
NM_004364.5(CEBPA):c.395G>A (p.Gly132Asp)
NM_004364.5(CEBPA):c.398G>A (p.Cys133Tyr)
NM_004364.5(CEBPA):c.403G>C (p.Ala135Pro)
NM_004364.5(CEBPA):c.406G>A (p.Ala136Thr) rs1172993204
NM_004364.5(CEBPA):c.406G>T (p.Ala136Ser) rs1172993204
NM_004364.5(CEBPA):c.407C>G (p.Ala136Gly) rs1967185191
NM_004364.5(CEBPA):c.416T>C (p.Leu139Pro) rs2145262262
NM_004364.5(CEBPA):c.416T>G (p.Leu139Arg) rs2145262262
NM_004364.5(CEBPA):c.41C>A (p.Pro14Gln) rs1007915253
NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg) rs1007915253
NM_004364.5(CEBPA):c.41C>T (p.Pro14Leu)
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser) rs1408671093
NM_004364.5(CEBPA):c.423C>T (p.Gly141=)
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys) rs1967184663
NM_004364.5(CEBPA):c.430G>A (p.Glu144Lys)
NM_004364.5(CEBPA):c.431A>G (p.Glu144Gly) rs1967184550
NM_004364.5(CEBPA):c.432G>C (p.Glu144Asp) rs1555742184
NM_004364.5(CEBPA):c.432G>T (p.Glu144Asp) rs1555742184
NM_004364.5(CEBPA):c.434C>T (p.Pro145Leu) rs2145262134
NM_004364.5(CEBPA):c.435C>A (p.Pro145=)
NM_004364.5(CEBPA):c.437T>C (p.Leu146Pro) rs1481195051
NM_004364.5(CEBPA):c.439T>C (p.Tyr147His)
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu) rs1967203329
NM_004364.5(CEBPA):c.43A>G (p.Met15Val) rs1967203329
NM_004364.5(CEBPA):c.440A>G (p.Tyr147Cys)
NM_004364.5(CEBPA):c.442G>A (p.Glu148Lys) rs1388478228
NM_004364.5(CEBPA):c.445C>T (p.Arg149Cys) rs2145262063
NM_004364.5(CEBPA):c.446G>A (p.Arg149His)
NM_004364.5(CEBPA):c.448G>T (p.Val150Phe) rs1600023056
NM_004364.5(CEBPA):c.449T>A (p.Val150Asp) rs2145262045
NM_004364.5(CEBPA):c.44T>A (p.Met15Lys)
NM_004364.5(CEBPA):c.44T>C (p.Met15Thr) rs1600024585
NM_004364.5(CEBPA):c.450_468delinsTGAT (p.Gly151_Arg156delinsAsp) rs1967182998
NM_004364.5(CEBPA):c.451G>A (p.Gly151Arg) rs986682061
NM_004364.5(CEBPA):c.451G>C (p.Gly151Arg) rs986682061
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp) rs986682061
NM_004364.5(CEBPA):c.452G>A (p.Gly151Glu) rs2145262013
NM_004364.5(CEBPA):c.455C>A (p.Ala152Glu) rs1967183790
NM_004364.5(CEBPA):c.455C>T (p.Ala152Val) rs1967183790
NM_004364.5(CEBPA):c.457C>T (p.Pro153Ser) rs2145261985
NM_004364.5(CEBPA):c.458C>A (p.Pro153Gln) rs1967183728
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg) rs1967183728
NM_004364.5(CEBPA):c.458_523del (p.Pro153_Ala174del)
NM_004364.5(CEBPA):c.461C>T (p.Ala154Val)
NM_004364.5(CEBPA):c.46AGC[1] (p.Ser17del)
NM_004364.5(CEBPA):c.470C>T (p.Pro157Leu)
NM_004364.5(CEBPA):c.472C>A (p.Leu158Met)
NM_004364.5(CEBPA):c.473T>G (p.Leu158Arg)
NM_004364.5(CEBPA):c.475G>A (p.Val159Met)
NM_004364.5(CEBPA):c.475G>T (p.Val159Leu) rs2145261853
NM_004364.5(CEBPA):c.478A>G (p.Ile160Val)
NM_004364.5(CEBPA):c.487G>A (p.Glu163Lys) rs1347514128
NM_004364.5(CEBPA):c.487G>C (p.Glu163Gln)
NM_004364.5(CEBPA):c.489G>A (p.Glu163=)
NM_004364.5(CEBPA):c.489G>T (p.Glu163Asp)
NM_004364.5(CEBPA):c.493C>A (p.Arg165Ser) rs1967182334
NM_004364.5(CEBPA):c.494G>A (p.Arg165His) rs1481086547
NM_004364.5(CEBPA):c.49A>G (p.Ser17Gly) rs2145264889
NM_004364.5(CEBPA):c.502G>A (p.Asp168Asn)
NM_004364.5(CEBPA):c.503A>T (p.Asp168Val) rs2145261721
NM_004364.5(CEBPA):c.508G>A (p.Ala170Thr)
NM_004364.5(CEBPA):c.512A>C (p.Lys171Thr)
NM_004364.5(CEBPA):c.518T>C (p.Leu173Pro)
NM_004364.5(CEBPA):c.518T>G (p.Leu173Arg)
NM_004364.5(CEBPA):c.527C>G (p.Ala176Gly) rs957167825
NM_004364.5(CEBPA):c.529G>A (p.Gly177Ser)
NM_004364.5(CEBPA):c.52C>T (p.His18Tyr) rs1600024559
NM_004364.5(CEBPA):c.530G>A (p.Gly177Asp) rs1967181220
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe) rs1325138029
NM_004364.5(CEBPA):c.533T>C (p.Leu178Pro) rs1967180974
NM_004364.5(CEBPA):c.543C>G (p.Tyr181Ter)
NM_004364.5(CEBPA):c.544C>A (p.Gln182Lys) rs1600022835
NM_004364.5(CEBPA):c.545A>C (p.Gln182Pro) rs1555742145
NM_004364.5(CEBPA):c.545A>G (p.Gln182Arg)
NM_004364.5(CEBPA):c.545A>T (p.Gln182Leu) rs1555742145
NM_004364.5(CEBPA):c.546G>C (p.Gln182His) rs2145261525
NM_004364.5(CEBPA):c.546GCC[10] (p.Pro187_Pro189dup) rs746430067
NM_004364.5(CEBPA):c.546GCC[3] (p.Pro186_Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[4] (p.Pro187_Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[5] (p.Pro188_Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) rs746430067
NM_004364.5(CEBPA):c.546GCC[9] (p.Pro188_Pro189dup) rs746430067
NM_004364.5(CEBPA):c.548C>G (p.Pro183Arg) rs1222448862
NM_004364.5(CEBPA):c.54C>G (p.His18Gln) rs1600024552
NM_004364.5(CEBPA):c.551C>T (p.Pro184Leu)
NM_004364.5(CEBPA):c.554C>T (p.Pro185Leu) rs2145261468
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser) rs1303742006
NM_004364.5(CEBPA):c.557C>T (p.Pro186Leu) rs1367523224
NM_004364.5(CEBPA):c.558_561del (p.Pro187fs) rs1427211628
NM_004364.5(CEBPA):c.558_568delinsCTCGCACC (p.Pro187_Ser190delinsSerHisPro) rs1568419793
NM_004364.5(CEBPA):c.560C>A (p.Pro187Gln) rs1600022732
NM_004364.5(CEBPA):c.562C>T (p.Pro188Ser) rs2145261406
NM_004364.5(CEBPA):c.563C>A (p.Pro188Gln) rs1568419813
NM_004364.5(CEBPA):c.566_567insGCCCTCGCA (p.Pro189_Ser190insProSerHis) rs1967178862
NM_004364.5(CEBPA):c.566_567insGCCGCCGCCCTCGCA (p.Pro189_Ser190insProProProSerHis) rs1967178862
NM_004364.5(CEBPA):c.568_594del (p.Ser190_Pro198del)
NM_004364.5(CEBPA):c.569C>G (p.Ser190Trp) rs1555742114
NM_004364.5(CEBPA):c.569_570insCCACCC (p.191HP[4]) rs2145261294
NM_004364.5(CEBPA):c.56T>G (p.Leu19Arg)
NM_004364.5(CEBPA):c.572A>T (p.His191Leu)
NM_004364.5(CEBPA):c.572ACCCGC[1] (p.191HP[1]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[5] (p.191HP[5]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[6] (p.191HP[6]) rs762459325
NM_004364.5(CEBPA):c.575C>G (p.Pro192Arg) rs1247330890
NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro) rs1555742103
NM_004364.5(CEBPA):c.577C>T (p.His193Tyr)
NM_004364.5(CEBPA):c.579_580insACGCAC (p.His193_Pro194insThrHis)
NM_004364.5(CEBPA):c.580C>A (p.Pro194Thr)
NM_004364.5(CEBPA):c.580C>G (p.Pro194Ala) rs1967177805
NM_004364.5(CEBPA):c.581C>A (p.Pro194Gln)
NM_004364.5(CEBPA):c.581C>G (p.Pro194Arg) rs1487598012
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr) rs1213752306
NM_004364.5(CEBPA):c.584A>C (p.His195Pro)
NM_004364.5(CEBPA):c.585C>G (p.His195Gln) rs2145261171
NM_004364.5(CEBPA):c.588G>C (p.Pro196=)
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu) rs1568419745
NM_004364.5(CEBPA):c.592C>A (p.Pro198Thr) rs2145261086
NM_004364.5(CEBPA):c.592C>T (p.Pro198Ser) rs2145261086
NM_004364.5(CEBPA):c.595G>A (p.Ala199Thr) rs1308416905
NM_004364.5(CEBPA):c.595_596delinsTT (p.Ala199Leu) rs1060502118
NM_004364.5(CEBPA):c.598C>G (p.His200Asp) rs2145261016
NM_004364.5(CEBPA):c.600C>G (p.His200Gln)
NM_004364.5(CEBPA):c.605C>T (p.Ala202Val) rs1316179719
NM_004364.5(CEBPA):c.606C>T (p.Ala202=)
NM_004364.5(CEBPA):c.607_608delinsTT (p.Ala203Phe)
NM_004364.5(CEBPA):c.60G>C (p.Gln20His) rs1060502123
NM_004364.5(CEBPA):c.610C>G (p.Pro204Ala) rs1600022363
NM_004364.5(CEBPA):c.611C>G (p.Pro204Arg)
NM_004364.5(CEBPA):c.611C>T (p.Pro204Leu)
NM_004364.5(CEBPA):c.614A>G (p.His205Arg) rs1568419698
NM_004364.5(CEBPA):c.616C>A (p.Leu206Met)
NM_004364.5(CEBPA):c.622T>G (p.Phe208Val)
NM_004364.5(CEBPA):c.624C>A (p.Phe208Leu) rs2145260930
NM_004364.5(CEBPA):c.62G>A (p.Ser21Asn)
NM_004364.5(CEBPA):c.62G>T (p.Ser21Ile) rs890855027
NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr) rs1568419687
NM_004364.5(CEBPA):c.631G>C (p.Ala211Pro) rs1568419687
NM_004364.5(CEBPA):c.631G>T (p.Ala211Ser) rs1568419687
NM_004364.5(CEBPA):c.634C>G (p.His212Asp) rs1433126196
NM_004364.5(CEBPA):c.634C>T (p.His212Tyr) rs1433126196
NM_004364.5(CEBPA):c.635A>C (p.His212Pro)
NM_004364.5(CEBPA):c.635A>G (p.His212Arg) rs1967174956
NM_004364.5(CEBPA):c.639C>A (p.Cys213Ter) rs1967174687
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg) rs867113214
NM_004364.5(CEBPA):c.63C>G (p.Ser21Arg)
NM_004364.5(CEBPA):c.640G>A (p.Gly214Ser)
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val) rs1967174628
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala) rs1600022240
NM_004364.5(CEBPA):c.649A>G (p.Thr217Ala) rs1967174429
NM_004364.5(CEBPA):c.64C>A (p.Pro22Thr) rs770636941
NM_004364.5(CEBPA):c.652A>C (p.Met218Leu)
NM_004364.5(CEBPA):c.653T>C (p.Met218Thr)
NM_004364.5(CEBPA):c.654G>A (p.Met218Ile)
NM_004364.5(CEBPA):c.654G>T (p.Met218Ile) rs1555742071
NM_004364.5(CEBPA):c.655C>A (p.His219Asn) rs1568419664
NM_004364.5(CEBPA):c.662A>T (p.Gln221Leu) rs2145260807
NM_004364.5(CEBPA):c.664C>T (p.Pro222Ser) rs1568419654
NM_004364.5(CEBPA):c.665C>T (p.Pro222Leu)
NM_004364.5(CEBPA):c.668G>A (p.Gly223Asp) rs2145260788
NM_004364.5(CEBPA):c.668G>C (p.Gly223Ala)
NM_004364.5(CEBPA):c.672C>G (p.His224Gln)
NM_004364.5(CEBPA):c.674C>T (p.Pro225Leu) rs1241253530
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr) rs1478319097
NM_004364.5(CEBPA):c.67C>T (p.Pro23Ser) rs1478319097
NM_004364.5(CEBPA):c.680C>T (p.Pro227Leu)
NM_004364.5(CEBPA):c.686C>G (p.Pro229Arg)
NM_004364.5(CEBPA):c.68C>A (p.Pro23Gln) rs1308550194
NM_004364.5(CEBPA):c.68C>G (p.Pro23Arg)
NM_004364.5(CEBPA):c.695T>C (p.Val232Ala) rs1600022098
NM_004364.5(CEBPA):c.697C>G (p.Pro233Ala)
NM_004364.5(CEBPA):c.697C>T (p.Pro233Ser)
NM_004364.5(CEBPA):c.698C>A (p.Pro233His) rs1352573347
NM_004364.5(CEBPA):c.698C>G (p.Pro233Arg)
NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp) rs2145265146
NM_004364.5(CEBPA):c.700A>G (p.Ser234Gly)
NM_004364.5(CEBPA):c.704C>G (p.Pro235Arg)
NM_004364.5(CEBPA):c.706C>A (p.His236Asn)
NM_004364.5(CEBPA):c.709C>T (p.Pro237Ser) rs921077083
NM_004364.5(CEBPA):c.710C>G (p.Pro237Arg) rs1967172281
NM_004364.5(CEBPA):c.710C>T (p.Pro237Leu) rs1967172281
NM_004364.5(CEBPA):c.710CCGCGC[3] (p.237PA[3]) rs1967171960
NM_004364.5(CEBPA):c.713C>A (p.Ala238Glu) rs3745972
NM_004364.5(CEBPA):c.713C>G (p.Ala238Gly)
NM_004364.5(CEBPA):c.713C>T (p.Ala238Val) rs3745972
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu) rs2145260550
NM_004364.5(CEBPA):c.718G>A (p.Ala240Thr)
NM_004364.5(CEBPA):c.719C>T (p.Ala240Val)
NM_004364.5(CEBPA):c.719_724dup (p.Ala240_Leu241dup) rs2145260517
NM_004364.5(CEBPA):c.722T>C (p.Leu241Pro) rs2145260532
NM_004364.5(CEBPA):c.724G>C (p.Gly242Arg)
NM_004364.5(CEBPA):c.727G>A (p.Ala243Thr) rs2145260494
NM_004364.5(CEBPA):c.72C>A (p.His24Gln) rs1555742309
NM_004364.5(CEBPA):c.72C>G (p.His24Gln) rs1555742309
NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr) rs957444896
NM_004364.5(CEBPA):c.733G>C (p.Gly245Arg)
NM_004364.5(CEBPA):c.734G>A (p.Gly245Asp)
NM_004364.5(CEBPA):c.73G>C (p.Ala25Pro) rs1600024440
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp) rs1967171226
NM_004364.5(CEBPA):c.743G>T (p.Gly248Val)
NM_004364.5(CEBPA):c.748G>A (p.Gly250Ser) rs1555742056
NM_004364.5(CEBPA):c.74C>T (p.Ala25Val) rs2145264688
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly) rs1382832060
NM_004364.5(CEBPA):c.751A>T (p.Ser251Cys)
NM_004364.5(CEBPA):c.752G>C (p.Ser251Thr) rs1967170735
NM_004364.5(CEBPA):c.756_757delinsCT (p.Leu253Phe) rs2145260308
NM_004364.5(CEBPA):c.763G>A (p.Gly255Arg) rs1967170243
NM_004364.5(CEBPA):c.764G>A (p.Gly255Glu) rs2145260264
NM_004364.5(CEBPA):c.768G>T (p.Leu256=)
NM_004364.5(CEBPA):c.775G>A (p.Ala259Thr)
NM_004364.5(CEBPA):c.776C>G (p.Ala259Gly) rs746895795
NM_004364.5(CEBPA):c.778C>A (p.His260Asn)
NM_004364.5(CEBPA):c.778C>T (p.His260Tyr)
NM_004364.5(CEBPA):c.77C>G (p.Pro26Arg)
NM_004364.5(CEBPA):c.780C>A (p.His260Gln) rs1429055509
NM_004364.5(CEBPA):c.782C>G (p.Pro261Arg) rs1184283480
NM_004364.5(CEBPA):c.786C>A (p.Asp262Glu) rs747881336
NM_004364.5(CEBPA):c.788T>G (p.Leu263Arg)
NM_004364.5(CEBPA):c.791G>A (p.Arg264His)
NM_004364.5(CEBPA):c.793_794delinsAT (p.Ala265Met) rs1555742019
NM_004364.5(CEBPA):c.794C>T (p.Ala265Val)
NM_004364.5(CEBPA):c.797del (p.Ser266fs) rs2145260029
NM_004364.5(CEBPA):c.799G>A (p.Gly267Ser)
NM_004364.5(CEBPA):c.79A>G (p.Ser27Gly) rs1967201448
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser) rs1568419433
NM_004364.5(CEBPA):c.802G>T (p.Gly268Cys) rs1568419433
NM_004364.5(CEBPA):c.808G>A (p.Gly270Ser)
NM_004364.5(CEBPA):c.80G>C (p.Ser27Thr) rs2145264644
NM_004364.5(CEBPA):c.811G>A (p.Ala271Thr) rs756632245
NM_004364.5(CEBPA):c.811G>T (p.Ala271Ser) rs756632245
NM_004364.5(CEBPA):c.811_812delinsTT (p.Ala271Leu) rs2145259941
NM_004364.5(CEBPA):c.812C>G (p.Ala271Gly) rs1403352822
NM_004364.5(CEBPA):c.812C>T (p.Ala271Val)
NM_004364.5(CEBPA):c.815G>A (p.Gly272Asp)
NM_004364.5(CEBPA):c.815G>C (p.Gly272Ala)
NM_004364.5(CEBPA):c.815G>T (p.Gly272Val) rs1162467731
NM_004364.5(CEBPA):c.816C>T (p.Gly272=)
NM_004364.5(CEBPA):c.817A>G (p.Lys273Glu)
NM_004364.5(CEBPA):c.81C>G (p.Ser27Arg) rs111662895
NM_004364.5(CEBPA):c.821C>T (p.Ala274Val) rs767673311
NM_004364.5(CEBPA):c.824A>C (p.Lys275Thr)
NM_004364.5(CEBPA):c.824A>G (p.Lys275Arg) rs757273086
NM_004364.5(CEBPA):c.827A>C (p.Lys276Thr)
NM_004364.5(CEBPA):c.830C>A (p.Ser277Ter) rs1269133775
NM_004364.5(CEBPA):c.835G>T (p.Asp279Tyr) rs1967166324
NM_004364.5(CEBPA):c.836A>G (p.Asp279Gly) rs1568419375
NM_004364.5(CEBPA):c.83G>A (p.Ser28Asn) rs2145264621
NM_004364.5(CEBPA):c.841A>G (p.Asn281Asp)
NM_004364.5(CEBPA):c.844A>C (p.Ser282Arg)
NM_004364.5(CEBPA):c.844A>G (p.Ser282Gly)
NM_004364.5(CEBPA):c.847A>C (p.Asn283His)
NM_004364.5(CEBPA):c.849C>G (p.Asn283Lys)
NM_004364.5(CEBPA):c.850G>A (p.Glu284Lys) rs1002344182
NM_004364.5(CEBPA):c.852G>T (p.Glu284Asp) rs376856647
NM_004364.5(CEBPA):c.859G>C (p.Val287Leu) rs2145259628
NM_004364.5(CEBPA):c.85G>T (p.Ala29Ser) rs2145264604
NM_004364.5(CEBPA):c.862C>T (p.Arg288Trp) rs971619935
NM_004364.5(CEBPA):c.863G>C (p.Arg288Pro) rs1064794962
NM_004364.5(CEBPA):c.866G>T (p.Arg289Leu)
NM_004364.5(CEBPA):c.868G>T (p.Glu290Ter) rs1967164835
NM_004364.5(CEBPA):c.872G>A (p.Arg291His) rs1967164761
NM_004364.5(CEBPA):c.875A>G (p.Asn292Ser) rs776590829
NM_004364.5(CEBPA):c.875ACA[1] (p.Asn293del)
NM_004364.5(CEBPA):c.882C>G (p.Ile294Met) rs376093748
NM_004364.5(CEBPA):c.88G>T (p.Ala30Ser) rs1555742305
NM_004364.5(CEBPA):c.890G>T (p.Arg297Leu) rs1600021258
NM_004364.5(CEBPA):c.891dup (p.Lys298fs)
NM_004364.5(CEBPA):c.898_913dup (p.Gln305fs) rs1600021166
NM_004364.5(CEBPA):c.8C>T (p.Ser3Leu)
NM_004364.5(CEBPA):c.901G>A (p.Asp301Asn) rs1967163668
NM_004364.5(CEBPA):c.906G>A (p.Lys302=)
NM_004364.5(CEBPA):c.907G>A (p.Ala303Thr) rs867994533
NM_004364.5(CEBPA):c.913C>G (p.Gln305Glu) rs747606716
NM_004364.5(CEBPA):c.913C>T (p.Gln305Ter)
NM_004364.5(CEBPA):c.914A>G (p.Gln305Arg) rs1479225242
NM_004364.5(CEBPA):c.916C>A (p.Arg306Ser)
NM_004364.5(CEBPA):c.918C>G (p.Arg306=)
NM_004364.5(CEBPA):c.919A>T (p.Asn307Tyr)
NM_004364.5(CEBPA):c.922G>A (p.Val308Met) rs1182945213
NM_004364.5(CEBPA):c.922G>T (p.Val308Leu) rs1182945213
NM_004364.5(CEBPA):c.925G>C (p.Glu309Gln)
NM_004364.5(CEBPA):c.925G>T (p.Glu309Ter)
NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala) rs1568419235
NM_004364.5(CEBPA):c.926A>G (p.Glu309Gly) rs1568419235
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter) rs1967162539
NM_004364.5(CEBPA):c.932A>T (p.Gln311Leu) rs2145258913
NM_004364.5(CEBPA):c.934C>T (p.Gln312Ter)
NM_004364.5(CEBPA):c.93C>G (p.Phe31Leu)
NM_004364.5(CEBPA):c.943C>T (p.Leu315=)
NM_004364.5(CEBPA):c.946G>C (p.Glu316Gln)
NM_004364.5(CEBPA):c.94G>A (p.Gly32Ser) rs1348778034
NM_004364.5(CEBPA):c.952A>C (p.Thr318Pro) rs2145258767
NM_004364.5(CEBPA):c.955A>C (p.Ser319Arg) rs1555741962
NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly) rs1555741962
NM_004364.5(CEBPA):c.964G>A (p.Asp322Asn) rs2145258655
NM_004364.5(CEBPA):c.964_965delinsAT (p.Asp322Ile) rs2145258643
NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu) rs903305652
NM_004364.5(CEBPA):c.967C>T (p.Arg323Cys)
NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu) rs1421674520
NM_004364.5(CEBPA):c.96C>A (p.Gly32=)
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser) rs781549846
NM_004364.5(CEBPA):c.982G>A (p.Val328Met)
NM_004364.5(CEBPA):c.982_985del (p.Val328fs) rs1967160131
NM_004364.5(CEBPA):c.985G>A (p.Glu329Lys) rs1568419162
NM_004364.5(CEBPA):c.989A>C (p.Gln330Pro) rs1555741952
NM_004364.5(CEBPA):c.997C>T (p.Arg333Cys)
NM_004364.5(CEBPA):c.99T>C (p.Phe33=)
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr) rs771986131
NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser) rs1561672362
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)
NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys)
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr) rs2130546358
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_005085.4(NUP214):c.199CTT[1] (p.Leu68del) rs1302128286
NM_005188.4(CBL):c.-125_-116delinsT rs886047763
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly) rs2135303762
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe) rs1357686410
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser) rs756530482
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser) rs772156285
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln) rs140627020
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter) rs764340189
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln) rs980503623
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln) rs143034856
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu) rs780457588
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del) rs755938138
NM_005188.4(CBL):c.2435-1_2435del rs749424087
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp) rs1950085952
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr) rs376536789
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)
NM_005188.4(CBL):c.434C>G (p.Ser145Cys)
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln)
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln)
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)
NM_005373.3(MPL):c.1057C>T (p.His353Tyr)
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)
NM_005373.3(MPL):c.10T>C (p.Trp4Arg)
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr)
NM_005373.3(MPL):c.1168C>T (p.Arg390Cys)
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr)
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln)
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg)
NM_005373.3(MPL):c.136G>A (p.Glu46Lys)
NM_005373.3(MPL):c.136G>C (p.Glu46Gln)
NM_005373.3(MPL):c.1468+7C>T
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys) rs121913613
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys) rs1647078220
NM_005373.3(MPL):c.1542G>T (p.Arg514Ser)
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala)
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser)
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser)
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)
NM_005373.3(MPL):c.1653G>A (p.Pro551=)
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala)
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp)
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu)
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser)
NM_005373.3(MPL):c.1744C>G (p.Leu582Val) rs2153920065
NM_005373.3(MPL):c.1766T>C (p.Met589Thr)
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs)
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter)
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)
NM_005373.3(MPL):c.224G>A (p.Arg75His)
NM_005373.3(MPL):c.338A>T (p.Asn113Ile)
NM_005373.3(MPL):c.358C>T (p.Arg120Trp)
NM_005373.3(MPL):c.368G>A (p.Arg123Gln)
NM_005373.3(MPL):c.404C>G (p.Pro135Arg)
NM_005373.3(MPL):c.417C>T (p.Ile139=)
NM_005373.3(MPL):c.445G>A (p.Glu149Lys) rs267598615
NM_005373.3(MPL):c.502G>A (p.Glu168Lys)
NM_005373.3(MPL):c.517C>G (p.Pro173Ala)
NM_005373.3(MPL):c.530A>C (p.Lys177Thr)
NM_005373.3(MPL):c.535T>C (p.Ser179Pro)
NM_005373.3(MPL):c.556C>A (p.Gln186Lys)
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
NM_005373.3(MPL):c.593A>G (p.Gln198Arg)
NM_005373.3(MPL):c.613G>A (p.Ala205Thr)
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr)
NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
NM_005373.3(MPL):c.923A>T (p.His308Leu)
NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
NM_005373.3(MPL):c.981-8G>A
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005896.4(IDH1):c.839C>T (p.Ser280Phe) rs757389021
NM_006060.6(IKZF1):c.1474T>G (p.Cys492Gly)
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.319+3965C>T rs766676371
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp) rs778212685
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del) rs1601783129
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr) rs1601777776
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) rs876661053
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)
NM_015061.6(KDM4C):c.2320G>A (p.Ala774Thr)
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg) rs2125017628
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys) rs992633976
NM_022124.6(CDH23):c.1270G>A (p.Val424Met) rs2305207
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile) rs771847607
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met) rs183220886
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe) rs2132740122
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser) rs765094120
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys) rs765094120
NM_022124.6(CDH23):c.2864G>A (p.Arg955His) rs758293939
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
NM_022124.6(CDH23):c.4617+5G>C rs772189237
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys) rs759876454
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile) rs2132965400
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser) rs373294595
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) rs534575559
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg) rs950156492
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs) rs1961069899
NM_022904.3(RASAL3):c.-5C>G rs76267899
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_024426.6(WT1):c.1388G>C (p.Arg463Pro) rs1037084691
NM_024529.5(CDC73):c.*1056A>C rs548106852
NM_024529.5(CDC73):c.*1075A>G rs886045719
NM_024529.5(CDC73):c.*1144del rs538761780
NM_024529.5(CDC73):c.*1144dup rs538761780
NM_024529.5(CDC73):c.*1296C>G rs1269411417
NM_024529.5(CDC73):c.*1303A>G rs886045723
NM_024529.5(CDC73):c.*1442C>T rs1678053550
NM_024529.5(CDC73):c.*1821G>T rs1678060916
NM_024529.5(CDC73):c.*1858C>G rs886045724
NM_024529.5(CDC73):c.*1956T>C rs886045725
NM_024529.5(CDC73):c.*2043A>T rs886045727
NM_024529.5(CDC73):c.*2131A>T rs886045728
NM_024529.5(CDC73):c.*244T>A rs1678034707
NM_024529.5(CDC73):c.*2639C>G rs1361287206
NM_024529.5(CDC73):c.*3086C>T rs886045733
NM_024529.5(CDC73):c.*3257A>G rs886045734
NM_024529.5(CDC73):c.*3409_*3410del rs886045735
NM_024529.5(CDC73):c.*3542A>G rs886045736
NM_024529.5(CDC73):c.*3695C>G rs1678098304
NM_024529.5(CDC73):c.*3887G>T rs1678101144
NM_024529.5(CDC73):c.*937G>A rs886045715
NM_024529.5(CDC73):c.*94A>G rs547969893
NM_024529.5(CDC73):c.*956T>C rs886045716
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser) rs779180488
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile) rs2102038553
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala) rs1572215351
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser) rs1199579887
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.156A>G (p.Arg52=) rs886045712
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu) rs1675773790
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn) rs1572150421
NM_024529.5(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.5(CDC73):c.424-12G>A
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.728A>T (p.Lys243Met) rs1675915771
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala) rs765029460
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024535.5(CORO7):c.2772+50C>T rs1555468179
NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala) rs1064793824
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr) rs864622411
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.1267G>A (p.Glu423Lys) rs758517602
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala)
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu) rs1429596189
NM_032638.5(GATA2):c.154C>G (p.Leu52Val)
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala)
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser)
NM_032638.5(GATA2):c.283T>G (p.Leu95Val)
NM_032638.5(GATA2):c.308C>T (p.Ala103Val) rs2068698528
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser) rs2068696200
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser) rs751621459
NM_032638.5(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser) rs1373180685
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.64C>T (p.Pro22Ser) rs1172590651
NM_032638.5(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser) rs78245253
NM_032638.5(GATA2):c.7G>C (p.Val3Leu)
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn) rs2068685897
NM_032638.5(GATA2):c.85C>G (p.Leu29Val)
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_058172.5(ANTXR2):c.-714A>T rs886059665
NM_058172.6(ANTXR2):c.*1085T>C rs1726908171
NM_058172.6(ANTXR2):c.*1113C>T rs554716997
NM_058172.6(ANTXR2):c.*1295T>C rs956054737
NM_058172.6(ANTXR2):c.*1795G>A rs1726872226
NM_058172.6(ANTXR2):c.*2187A>C rs1044519123
NM_058172.6(ANTXR2):c.*2256T>C rs1726855465
NM_058172.6(ANTXR2):c.*2666A>C rs1726839418
NM_058172.6(ANTXR2):c.*2959C>G rs1726830497
NM_058172.6(ANTXR2):c.*3212T>C rs1726821073
NM_058172.6(ANTXR2):c.*3371C>A rs768265599
NM_058172.6(ANTXR2):c.*3468A>G rs561942463
NM_058172.6(ANTXR2):c.*3606A>G rs1726804365
NM_058172.6(ANTXR2):c.*3888T>G rs183636388
NM_058172.6(ANTXR2):c.*3953G>A rs369116782
NM_058172.6(ANTXR2):c.*4223T>C rs181339722
NM_058172.6(ANTXR2):c.*4712C>T rs1726753644
NM_058172.6(ANTXR2):c.*5266A>C rs1726732435
NM_058172.6(ANTXR2):c.*5310T>G rs1726729431
NM_058172.6(ANTXR2):c.*5358A>G rs1726727827
NM_058172.6(ANTXR2):c.*5413A>G rs1726724637
NM_058172.6(ANTXR2):c.*728G>A rs778332341
NM_058172.6(ANTXR2):c.-130G>A rs886059659
NM_058172.6(ANTXR2):c.-169T>C rs1264418120
NM_058172.6(ANTXR2):c.-261G>T rs1578203683
NM_058172.6(ANTXR2):c.-262A>G rs886059660
NM_058172.6(ANTXR2):c.-266G>A rs1010470801
NM_058172.6(ANTXR2):c.-366G>C rs886059661
NM_058172.6(ANTXR2):c.-410dup rs886059662
NM_058172.6(ANTXR2):c.-455C>T rs886059664
NM_058172.6(ANTXR2):c.-634C>T rs897876151
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly) rs534683576
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala) rs995416393
NM_058172.6(ANTXR2):c.637-10dup rs373672335
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile) rs768405615
NM_058172.6(ANTXR2):c.796+3A>C rs1732794597
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val) rs864309493
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204
NM_198291.3(SRC):c.1585C>G (p.Gln529Glu)
NM_198291.3(SRC):c.919C>T (p.Pro307Ser)
NM_207122.1(EXT2):c.-242G>T rs1953882206
NM_207122.2(EXT2):c.*368C>T rs886048279
NM_207122.2(EXT2):c.*672G>C rs1956079951
NM_207122.2(EXT2):c.*882G>T rs1956082516
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg) rs141035971
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met) rs1954415349
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe) rs747302075
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly) rs2135020999
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
NM_207122.2(EXT2):c.1117G>A (p.Val373Met) rs750547674
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg) rs1590575253
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu) rs1203844985
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr) rs2135127641
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) rs1279920600
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn) rs886048276
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys) rs775111831
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg) rs2135185580
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys) rs1955587849
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
NM_207122.2(EXT2):c.1565G>A (p.Arg522His) rs1271452312
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
NM_207122.2(EXT2):c.1575T>A (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp) rs1955590072
NM_207122.2(EXT2):c.1662+4A>C
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) rs768532662
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys) rs1564986609
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
NM_207122.2(EXT2):c.1802A>G (p.His601Arg) rs1590666587
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro) rs2135259942
NM_207122.2(EXT2):c.1806+3A>C
NM_207122.2(EXT2):c.1806+5G>C
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg) rs2135263090
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp) rs1334534184
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
NM_207122.2(EXT2):c.1935+3A>C
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.2019-2A>G
NM_207122.2(EXT2):c.2019-2del
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) rs753223281
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu) rs1956070950
NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala) rs1389539812
NM_207122.2(EXT2):c.205G>A (p.Val69Ile) rs200809171
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu)
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly) rs769426160
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr) rs999897934
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln) rs763536229
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796
NM_207122.2(EXT2):c.261G>A (p.Met87Ile) rs758194845
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)
NM_207122.2(EXT2):c.278T>C (p.Val93Ala)
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu) rs907886635
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr) rs1321100355
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) rs886048274
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser)
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser) rs2134967559
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) rs1389288265
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala)
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)
NM_207122.2(EXT2):c.471C>A (p.Ile157=) rs747429885
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly) rs1954089321
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu)
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) rs1240693088
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del) rs761364688
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del) rs1954106603
NM_207122.2(EXT2):c.571A>G (p.Met191Val) rs1324170921
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser) rs1954107822
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu) rs2134965342
NM_207122.2(EXT2):c.626+6A>T
NM_207122.2(EXT2):c.626+6_626+8del
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys)
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
NM_207122.2(EXT2):c.65A>G (p.His22Arg) rs1954077075
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
NM_207122.2(EXT2):c.69A>T (p.Arg23=) rs2134965405
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
NM_207122.2(EXT2):c.720G>A (p.Val240=)
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala)
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln) rs372237191
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg) rs372237191
NM_207122.2(EXT2):c.744-16T>G
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr)
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg) rs2135014787
NM_207122.2(EXT2):c.779G>T (p.Gly260Val) rs201895861
NM_207122.2(EXT2):c.785A>G (p.His262Arg) rs2135014871
NM_207122.2(EXT2):c.805C>T (p.Leu269=) rs773486418
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg)
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)
NM_207122.2(EXT2):c.886G>C (p.Val296Leu) rs1954377301
NM_207122.2(EXT2):c.887T>A (p.Val296Asp)
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly) rs1260423517
NM_207122.2(EXT2):c.922T>C (p.Tyr308His) rs2135015647
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu)
NM_207122.2(EXT2):c.931G>A (p.Val311Met) rs1449762239
NM_207122.2(EXT2):c.933G>A (p.Val311=)
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu) rs763718818
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr)
NM_207122.2(EXT2):c.955G>A (p.Val319Met)
NM_207122.2(EXT2):c.956T>C (p.Val319Ala)
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)
NR_149149.2(NPM1):n.858_859del rs2113301411

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