ClinVar Miner

List of variants reported as uncertain significance for bone cancer

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1620
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HGVS dbSNP gnomAD frequency
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro) rs35746269 0.00180
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_004364.5(CEBPA):c.-39C>A rs41434054 0.00082
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673 0.00080
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_005188.4(CBL):c.*615C>T rs769151797 0.00047
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730 0.00029
NM_005188.3(CBL):c.-122C>T rs886047765 0.00029
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser) rs919904139 0.00021
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_001754.5(RUNX1):c.-59-10C>T rs578080277 0.00018
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile) rs770428240 0.00018
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
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_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr) rs921077083 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_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 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_032638.5(GATA2):c.445G>A (p.Gly149Arg) rs753645971 0.00009
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly) rs141800945 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 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_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu) rs372912472 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 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_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 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_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_032638.5(GATA2):c.1274C>T (p.Ser425Leu) rs146554939 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
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_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_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_000222.3(KIT):c.2104C>G (p.Leu702Val) rs768847037 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_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_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 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_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_032638.5(GATA2):c.1331C>T (p.Pro444Leu) rs781161922 0.00004
NM_032638.5(GATA2):c.1391G>T (p.Ser464Ile) rs770949428 0.00004
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) rs746362966 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser) rs773828910 0.00003
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733 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.2999G>A (p.Arg1000His) rs753082620 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_001754.5(RUNX1):c.1112T>C (p.Met371Thr) rs922736848 0.00003
NM_001754.5(RUNX1):c.1184C>T (p.Pro395Leu) rs868527382 0.00003
NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys) rs561166961 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_001754.5(RUNX1):c.872T>C (p.Ile291Thr) rs371026644 0.00003
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met) rs758682659 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 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_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 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_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_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_001754.5(RUNX1):c.748C>T (p.Arg250Cys) rs1296210151 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_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_032638.5(GATA2):c.1370C>T (p.Thr457Met) rs139415862 0.00002
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys) rs140047487 0.00002
NM_032638.5(GATA2):c.669G>A (p.Met223Ile) rs140382420 0.00002
NM_032638.5(GATA2):c.755A>G (p.Tyr252Cys) rs1060500090 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
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_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_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.1100G>A (p.Gly367Asp) rs1361040414 0.00001
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863 0.00001
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr) rs1156614886 0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln) rs1466678870 0.00001
NM_001042492.3(NF1):c.1337C>T (p.Thr446Ile) rs1389152072 0.00001
NM_001042492.3(NF1):c.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.2690G>A (p.Arg897Gln) rs863224658 0.00001
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp) rs765848298 0.00001
NM_001042492.3(NF1):c.2741G>A (p.Arg914Gln) rs776447057 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr) rs876659779 0.00001
NM_001042492.3(NF1):c.2803A>C (p.Asn935His) rs786201823 0.00001
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn) rs1555614350 0.00001
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502 0.00001
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met) rs786203132 0.00001
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly) rs1355411201 0.00001
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn) rs774066804 0.00001
NM_001042492.3(NF1):c.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.3722G>A (p.Arg1241Gln) rs543387071 0.00001
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp) rs1452005208 0.00001
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln) rs199474765 0.00001
NM_001042492.3(NF1):c.374G>A (p.Arg125His) rs149003051 0.00001
NM_001042492.3(NF1):c.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.3989A>C (p.Glu1330Ala) rs1256727206 0.00001
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr) rs876660908 0.00001
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377 0.00001
NM_001042492.3(NF1):c.410C>G (p.Ser137Cys) rs1597635932 0.00001
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys) rs1060500310 0.00001
NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val) rs369345045 0.00001
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys) rs876660428 0.00001
NM_001042492.3(NF1):c.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.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.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.5455G>A (p.Ala1819Thr) rs368998534 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.6262C>G (p.Leu2088Val) rs752569823 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 0.00001
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser) rs757736155 0.00001
NM_001042492.3(NF1):c.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.7306G>A (p.Val2436Met) rs876659856 0.00001
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp) rs878853915 0.00001
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg) rs863224664 0.00001
NM_001042492.3(NF1):c.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.7493A>G (p.Lys2498Arg) rs1269264795 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.7837C>T (p.Pro2613Ser) rs138839077 0.00001
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val) rs375990655 0.00001
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val) rs1555536748 0.00001
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser) rs1283946778 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.7931C>G (p.Ala2644Gly) rs766494934 0.00001
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu) rs778799019 0.00001
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00001
NM_001042492.3(NF1):c.8378G>C (p.Gly2793Ala) rs1275285522 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.8500A>G (p.Ser2834Gly) rs764858484 0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met) rs755670651 0.00001
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg) rs1219929525 0.00001
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln) rs76015786 0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val) rs755007999 0.00001
NM_001754.5(RUNX1):c.1034C>G (p.Pro345Arg) rs774629580 0.00001
NM_001754.5(RUNX1):c.1039A>G (p.Met347Val) rs1601333587 0.00001
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile) rs370114565 0.00001
NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly) rs534158221 0.00001
NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu) rs1214667759 0.00001
NM_001754.5(RUNX1):c.1266G>C (p.Glu422Asp) rs967317406 0.00001
NM_001754.5(RUNX1):c.1271C>T (p.Ser424Leu) rs1476276192 0.00001
NM_001754.5(RUNX1):c.1301A>G (p.Asn434Ser) rs748885850 0.00001
NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg) rs777551786 0.00001
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met) rs916623598 0.00001
NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu) rs1034562071 0.00001
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu) rs752298116 0.00001
NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu) rs769213771 0.00001
NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala) rs1313711063 0.00001
NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu) rs750755857 0.00001
NM_001754.5(RUNX1):c.367G>C (p.Asp123His) rs373498347 0.00001
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala) rs1182543054 0.00001
NM_001754.5(RUNX1):c.445G>A (p.Ala149Thr) rs752926959 0.00001
NM_001754.5(RUNX1):c.619C>T (p.Arg207Trp) rs1555890007 0.00001
NM_001754.5(RUNX1):c.657G>C (p.Leu219Phe) rs1425437469 0.00001
NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys) rs765528082 0.00001
NM_001754.5(RUNX1):c.764A>G (p.His255Arg) rs746977462 0.00001
NM_001754.5(RUNX1):c.77A>C (p.Asn26Thr) rs778220296 0.00001
NM_001754.5(RUNX1):c.832C>T (p.Pro278Ser) rs767251526 0.00001
NM_001754.5(RUNX1):c.856C>A (p.Gln286Lys) rs769966051 0.00001
NM_001754.5(RUNX1):c.967A>G (p.Thr323Ala) rs776703625 0.00001
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser) rs746531841 0.00001
NM_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_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_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_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr) rs751285156 0.00001
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val) rs374457534 0.00001
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg) rs370164300 0.00001
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser) rs777726701 0.00001
NM_032638.5(GATA2):c.182C>T (p.Ala61Val) rs375349195 0.00001
NM_032638.5(GATA2):c.186C>G (p.Asn62Lys) rs751200779 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_032638.5(GATA2):c.224C>T (p.Ala75Val) rs1559987952 0.00001
NM_032638.5(GATA2):c.297C>G (p.Asp99Glu) rs1411693599 0.00001
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly) rs1161655427 0.00001
NM_032638.5(GATA2):c.487G>A (p.Ala163Thr) rs897072411 0.00001
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala) rs377261969 0.00001
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr) rs1355811506 0.00001
NM_032638.5(GATA2):c.575C>T (p.Ser192Phe) rs773786765 0.00001
NM_032638.5(GATA2):c.593C>T (p.Ala198Val) rs745726293 0.00001
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr) rs375298899 0.00001
NM_032638.5(GATA2):c.698T>C (p.Leu233Pro) rs1377041124 0.00001
NM_032638.5(GATA2):c.707T>C (p.Met236Thr) rs61754578 0.00001
NM_032638.5(GATA2):c.787G>A (p.Gly263Arg) rs587778378 0.00001
NM_032638.5(GATA2):c.815G>A (p.Gly272Glu) rs770511115 0.00001
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr) rs1443864030 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 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
NC_000001.10:g.(?_43812096)_(43818443_?)dup
NC_000019.9:g.(?_33532300)_(33793320_?)dup
NC_000019.9:g.(?_33792234)_(33793330_?)dup
NC_012920.1(MT-ND6):m.14372C>A rs1556424431
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_000321.3(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.3(RB1):c.276T>G (p.Ile92Met) rs1555282772
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.110A>C (p.Glu37Ala)
NM_001042492.3(NF1):c.1185+20T>G rs2066522265
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
NM_001042492.3(NF1):c.1221C>G (p.His407Gln)
NM_001042492.3(NF1):c.1255A>G (p.Thr419Ala)
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser) rs1555611107
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser) rs786202145
NM_001042492.3(NF1):c.1284G>T (p.Lys428Asn)
NM_001042492.3(NF1):c.1310T>A (p.Val437Asp) rs876658642
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala) rs876658642
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser) rs370020114
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu) rs2066621372
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr) rs983914251
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.3(NF1):c.1371C>A (p.His457Gln) rs1318894606
NM_001042492.3(NF1):c.1392+5G>A rs199999754
NM_001042492.3(NF1):c.1396C>T (p.Leu466Phe)
NM_001042492.3(NF1):c.1526G>A (p.Cys509Tyr) rs1597698521
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg) rs775369084
NM_001042492.3(NF1):c.1562G>T (p.Ser521Ile)
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.1607C>T (p.Ser536Leu) rs1555612859
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val) rs876660632
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
NM_001042492.3(NF1):c.1636A>G (p.Met546Val) rs2066877456
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn) rs2144004244
NM_001042492.3(NF1):c.1687C>T (p.Pro563Ser) rs2066928705
NM_001042492.3(NF1):c.1699G>A (p.Val567Ile) rs1555613200
NM_001042492.3(NF1):c.1721+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.1871T>C (p.Phe624Ser) rs1597710397
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu) rs876660272
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr) rs1567846698
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile) rs1555613573
NM_001042492.3(NF1):c.1940A>C (p.His647Pro) rs1170252879
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg) rs2066993430
NM_001042492.3(NF1):c.2001+4A>G
NM_001042492.3(NF1):c.2001+5G>T rs2144028091
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile) rs1597710853
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly) rs760900648
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2057A>T (p.Lys686Ile)
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.2206A>C (p.Asn736His) rs1567847621
NM_001042492.3(NF1):c.2218G>C (p.Glu740Gln)
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp) rs2151426135
NM_001042492.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_001042492.3(NF1):c.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.2457T>A (p.His819Gln)
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)
NM_001042492.3(NF1):c.2518A>G (p.Met840Val) rs779931789
NM_001042492.3(NF1):c.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.2707G>A (p.Val903Met)
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val) rs2067073386
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_001042492.3(NF1):c.2839T>A (p.Ser947Thr) rs1567849219
NM_001042492.3(NF1):c.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.3014T>C (p.Met1005Thr) rs1555614504
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.3198-330A>G
NM_001042492.3(NF1):c.3200A>G (p.Asp1067Gly) rs746785904
NM_001042492.3(NF1):c.320C>T (p.Thr107Met) rs1567817857
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp) rs1341314304
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3484A>C (p.Met1162Leu)
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly) rs1555615017
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile) rs1555615024
NM_001042492.3(NF1):c.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.3685A>T (p.Asn1229Tyr) rs1555615102
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.3788AAG[1] (p.Glu1264del)
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu) rs746583007
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_001042492.3(NF1):c.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.3875A>G (p.Tyr1292Cys) rs1060500243
NM_001042492.3(NF1):c.3884C>T (p.Thr1295Ile) rs2151438517
NM_001042492.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_001042492.3(NF1):c.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.3978A>T (p.Leu1326Phe) rs876660506
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_001042492.3(NF1):c.4005C>G (p.Asn1335Lys) rs2067448469
NM_001042492.3(NF1):c.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.4072C>T (p.Pro1358Ser) rs1555617359
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.4174G>A (p.Val1392Met) rs1597744525
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.4226T>C (p.Met1409Thr) rs1555618508
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu) rs1597744644
NM_001042492.3(NF1):c.4253T>C (p.Ile1418Thr)
NM_001042492.3(NF1):c.4256T>C (p.Val1419Ala)
NM_001042492.3(NF1):c.4312G>T (p.Gly1438Cys) rs1555618559
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met) rs1555618562
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp) rs1567862071
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr) rs2151462979
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu) rs199474755
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe) rs199474755
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.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.4415T>C (p.Phe1472Ser)
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.4455T>G (p.Asp1485Glu)
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser) rs1265291141
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.4469A>G (p.Asp1490Gly) rs2067663471
NM_001042492.3(NF1):c.4486C>A (p.Leu1496Ile)
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.4557G>T (p.Gly1519=)
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg) rs1597747170
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp) rs1555618861
NM_001042492.3(NF1):c.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.4781A>G (p.Tyr1594Cys) rs1060500303
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.480-2746A>G
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg) rs878853898
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln) rs876659197
NM_001042492.3(NF1):c.4834A>G (p.Arg1612Gly) rs755137259
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser) rs1466167635
NM_001042492.3(NF1):c.4927G>A (p.Val1643Met) rs1060500381
NM_001042492.3(NF1):c.4942A>T (p.Thr1648Ser) rs770558820
NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe) rs1555594471
NM_001042492.3(NF1):c.5032T>C (p.Tyr1678His) rs786203241
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.5125A>T (p.Ile1709Leu)
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr) rs767469374
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
NM_001042492.3(NF1):c.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.5234A>T (p.Lys1745Met)
NM_001042492.3(NF1):c.5250C>G (p.Asp1750Glu)
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr) rs529905904
NM_001042492.3(NF1):c.5325A>T (p.Gln1775His)
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.5434T>C (p.Phe1812Leu) rs2069380487
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr) rs1555533589
NM_001042492.3(NF1):c.5479A>G (p.Ile1827Val) rs1299780528
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln) rs876660298
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
NM_001042492.3(NF1):c.5524C>A (p.His1842Asn)
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.5615C>T (p.Ala1872Val)
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val) rs1465309384
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.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.6101C>T (p.Thr2034Ile) rs1567616695
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val) rs1555534614
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn) rs761029453
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
NM_001042492.3(NF1):c.6229G>A (p.Asp2077Asn) rs1597842830
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu) rs876660000
NM_001042492.3(NF1):c.632C>T (p.Ala211Val) rs1555608675
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro) rs2069690617
NM_001042492.3(NF1):c.650A>G (p.Glu217Gly)
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.6697G>A (p.Ala2233Thr) rs2069718829
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
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.6958G>T (p.Val2320Leu)
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser) rs587781428
NM_001042492.3(NF1):c.7024C>G (p.Leu2342Val)
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.7057_7059del (p.Asp2353del) rs786203558
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.7153A>C (p.Asn2385His)
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile) rs1425642121
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
NM_001042492.3(NF1):c.718A>G (p.Thr240Ala)
NM_001042492.3(NF1):c.7232G>C (p.Arg2411Thr)
NM_001042492.3(NF1):c.7270A>G (p.Arg2424Gly)
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala) rs1597858568
NM_001042492.3(NF1):c.730+7A>G
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn) rs201287021
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr) rs768404575
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.7442G>T (p.Gly2481Val) rs786202540
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.7465A>G (p.Lys2489Glu) rs1555536338
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg) rs864622249
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser) rs2070167112
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu) rs1555536347
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp) rs375176282
NM_001042492.3(NF1):c.7499C>A (p.Ser2500Tyr) rs2070168165
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro) rs786202955
NM_001042492.3(NF1):c.7543A>G (p.Ser2515Gly) rs2070170553
NM_001042492.3(NF1):c.7555A>G (p.Arg2519Gly)
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.7751T>G (p.Ile2584Ser) rs1597866331
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.7825G>C (p.Val2609Leu) rs786203848
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln) rs750972729
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn) rs1555536710
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu) rs1555536713
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val) rs1555536721
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr) rs1597866802
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val) rs1057518362
NM_001042492.3(NF1):c.7954A>G (p.Lys2652Glu)
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.8080T>A (p.Ser2694Thr) rs876658554
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu) rs2070328290
NM_001042492.3(NF1):c.8143G>A (p.Ala2715Thr) rs2070340047
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val) rs760973918
NM_001042492.3(NF1):c.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.8393A>G (p.Asn2798Ser) rs1555538515
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala) rs779180729
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln) rs1326795798
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg) rs1597883056
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
NM_001042492.3(NF1):c.8449T>G (p.Ser2817Ala)
NM_001042492.3(NF1):c.8452G>T (p.Ala2818Ser) rs771006452
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly) rs878853921
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.3(NF1):c.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.905G>A (p.Ser302Asn) rs786202746
NM_001042492.3(NF1):c.914A>G (p.Lys305Arg)
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.928C>T (p.His310Tyr) rs1597680837
NM_001042492.3(NF1):c.92A>C (p.His31Pro)
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.967G>A (p.Ala323Thr) rs2143873082
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg) rs1555604887
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del) rs864309497
NM_001127208.3(TET2):c.3782G>A (p.Arg1261His)
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala) rs150803413
NM_001346413.3(PCF11):c.3618del (p.Phe1206fs) rs864309498
NM_001754.5(RUNX1):c.*83G>A rs2145870845
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val) rs1273605678
NM_001754.5(RUNX1):c.1073C>T (p.Thr358Met) rs962671280
NM_001754.5(RUNX1):c.1100G>A (p.Gly367Asp)
NM_001754.5(RUNX1):c.1114G>A (p.Gly372Ser) rs2145876612
NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)
NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser) rs2056455422
NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg) rs868527382
NM_001754.5(RUNX1):c.1191A>T (p.Gln397His) rs1176713877
NM_001754.5(RUNX1):c.1193C>G (p.Ala398Gly)
NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg) rs1555884864
NM_001754.5(RUNX1):c.1237T>G (p.Ser413Ala)
NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
NM_001754.5(RUNX1):c.1328A>G (p.Asn443Ser)
NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)
NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup) rs2056446750
NM_001754.5(RUNX1):c.1400C>A (p.Ala467Glu) rs1442794209
NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val) rs1601331921
NM_001754.5(RUNX1):c.153G>T (p.Lys51Asn)
NM_001754.5(RUNX1):c.181C>T (p.Pro61Ser) rs776929941
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val) rs2058002974
NM_001754.5(RUNX1):c.211C>G (p.Leu71Val)
NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)
NM_001754.5(RUNX1):c.236T>A (p.Val79Glu) rs1601529045
NM_001754.5(RUNX1):c.268G>A (p.Val90Met) rs2057999447
NM_001754.5(RUNX1):c.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.382A>T (p.Thr128Ser)
NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)
NM_001754.5(RUNX1):c.443C>T (p.Thr148Ile) rs2057886829
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile) rs763464804
NM_001754.5(RUNX1):c.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.761A>G (p.Asn254Ser) rs2146075026
NM_001754.5(RUNX1):c.766T>C (p.Ser256Pro)
NM_001754.5(RUNX1):c.76A>C (p.Asn26His)
NM_001754.5(RUNX1):c.82_84del (p.Ser28del) rs775050403
NM_001754.5(RUNX1):c.833C>T (p.Pro278Leu) rs759227406
NM_001754.5(RUNX1):c.917G>C (p.Arg306Pro) rs139336358
NM_001754.5(RUNX1):c.952T>C (p.Ser318Pro) rs545554349
NM_002221.4(ITPKB):c.518G>A (p.Arg173His)
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_004327.4(BCR):c.3275_3278dup (p.Val1094fs) rs372013175
NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)
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.103del (p.Arg35fs)
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>G (p.Pro97Arg)
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.452_468delinsAT (p.Gly151_Arg156delinsAsp)
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.493C>G (p.Arg165Gly)
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.574_575insTGCACC (p.His191_Pro192insLeuHis)
NM_004364.5(CEBPA):c.575C>G (p.Pro192Arg) rs1247330890
NM_004364.5(CEBPA):c.575_616del (p.Pro192_His205del)
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.793G>T (p.Ala265Ser)
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.921_938del (p.Asn307_Gln312del)
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.957T>G (p.Ser319Arg)
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_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_017849.4(TMEM127):c.31G>T (p.Gly11Cys) rs992633976
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_024426.6(WT1):c.1388G>C (p.Arg463Pro) rs1037084691
NM_024426.6(WT1):c.950G>A (p.Gly317Glu) rs1564987636
NM_024535.5(CORO7):c.2772+50C>T rs1555468179
NM_032638.5(GATA2):c.1040C>T (p.Thr347Ile) rs2107668761
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser) rs2068625752
NM_032638.5(GATA2):c.1202C>G (p.Ser401Cys)
NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn) rs779797858
NM_032638.5(GATA2):c.1236G>T (p.Glu412Asp) rs1559984721
NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys) rs758517602
NM_032638.5(GATA2):c.1267_1269del (p.Glu423del)
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala)
NM_032638.5(GATA2):c.1360C>T (p.Pro454Ser) rs774297463
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu) rs1429596189
NM_032638.5(GATA2):c.154C>G (p.Leu52Val)
NM_032638.5(GATA2):c.16G>C (p.Glu6Gln)
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala)
NM_032638.5(GATA2):c.23C>A (p.Pro8Gln) rs771557922
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser)
NM_032638.5(GATA2):c.283T>G (p.Leu95Val)
NM_032638.5(GATA2):c.299G>T (p.Gly100Val)
NM_032638.5(GATA2):c.308C>T (p.Ala103Val) rs2068698528
NM_032638.5(GATA2):c.398G>T (p.Gly133Val) rs2068696971
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser) rs2068696200
NM_032638.5(GATA2):c.466G>C (p.Val156Leu) rs2068695139
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser) rs751621459
NM_032638.5(GATA2):c.482C>T (p.Pro161Leu)
NM_032638.5(GATA2):c.494A>G (p.His165Arg) rs1559987389
NM_032638.5(GATA2):c.494A>T (p.His165Leu) rs1559987389
NM_032638.5(GATA2):c.509T>C (p.Leu170Pro)
NM_032638.5(GATA2):c.539A>C (p.Glu180Ala) rs1028518743
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser) rs1373180685
NM_032638.5(GATA2):c.56C>T (p.Ala19Val)
NM_032638.5(GATA2):c.592G>T (p.Ala198Ser) rs1576748685
NM_032638.5(GATA2):c.596G>C (p.Gly199Ala)
NM_032638.5(GATA2):c.598G>C (p.Gly200Arg)
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala) rs373477245
NM_032638.5(GATA2):c.619G>A (p.Asp207Asn) rs2068691024
NM_032638.5(GATA2):c.629_631dup (p.Gly210dup) rs1553770955
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser) rs1172590651
NM_032638.5(GATA2):c.706A>G (p.Met236Val) rs746737860
NM_032638.5(GATA2):c.745T>C (p.Tyr249His)
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser) rs78245253
NM_032638.5(GATA2):c.773A>G (p.His258Arg)
NM_032638.5(GATA2):c.7G>C (p.Val3Leu)
NM_032638.5(GATA2):c.821C>T (p.Pro274Leu)
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn) rs2068685897
NM_032638.5(GATA2):c.85C>G (p.Leu29Val)
NM_032638.5(GATA2):c.878G>A (p.Arg293Gln) rs2068663016
NM_033360.4(KRAS):c.*101_*106del rs1339924833
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)
NR_149149.2(NPM1):n.858_859del rs2113301411

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