ClinVar Miner

List of variants reported as pathogenic for bone neoplasm

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_040073.1(MIR181A1HG):n.363+26A>G rs10800598 0.73974
NR_040073.1(MIR181A1HG):n.363+1456C>T rs10800597 0.71965
NR_040073.1(MIR181A1HG):n.363+1862C>A rs60639710 0.71928
NR_040073.1(MIR181A1HG):n.364-18748G>A rs12406470 0.47231
NC_000001.11:g.198807802C>A rs9660525 0.38046
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) rs754613772 0.00145
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) rs121918546 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_001375462.1(LPP):c.1354C>T (p.Arg452Ter) rs202115941 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) rs369156948 0.00004
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) rs771063992 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005373.3(MPL):c.230del (p.Cys77fs) rs1291157023 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg) rs781637328 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_000127.3(EXT1):c.1633-2A>G rs1233701691 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His) rs778920556 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005188.4(CBL):c.1111T>C (p.Tyr371His) rs267606706 0.00001
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) rs1355966040 0.00001
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter) rs751975712 0.00001
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) rs753018650 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) rs755447085 0.00001
NM_005373.3(MPL):c.605dup (p.Ala203fs) rs1441276119 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter) rs1306728898 0.00001
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter) rs781083252 0.00001
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) rs745738318 0.00001
ARHGAP26, 52-BP INS
ARHGAP26, 74-BP INS
CDC73, 41-BP DUP/INS
FLT3, INTERNAL TANDEM DUP
GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1
MN1-ETV6 fusion
NC_000001.10:g.(?_43800988)_(43803797_?)del
NC_000001.10:g.(?_43803510)_(43806194_?)del
NC_000001.11:g.(?_43349253)_(43349369_?)del
NC_000008.10:g.(?_118803587)_(118819524_?)del
NC_000008.10:g.(?_118811951)_(118812156_?)del
NC_000008.10:g.(?_118811951)_(118834836_?)del
NC_000008.10:g.(?_118811951)_(118849460_?)del
NC_000008.10:g.(?_118816941)_(118817152_?)del
NC_000008.10:g.(?_118819436)_(118825220_?)del
NC_000008.10:g.(?_118819436)_(118847810_?)del
NC_000008.10:g.(?_118825091)_(118825220_?)del
NC_000008.10:g.(?_118825208)_119035925del
NC_000008.10:g.(?_118830654)_(118849460_?)del
NC_000008.10:g.(?_118842449)_(118842608_?)del
NC_000008.10:g.(?_118847663)_(118849460_?)del
NC_000008.10:g.(?_119122304)_(119123285_?)del
NC_000008.11:g.(?_117799692)_(117799917_?)del
NC_000008.11:g.(?_117799692)_(118111066_?)del
NC_000008.11:g.(?_117807197)_(117807397_?)del
NC_000008.11:g.(?_117812852)_(117837221_?)dup
NC_000008.11:g.(?_117830210)_(117837221_?)del
NC_000008.11:g.(?_118110065)_(118111066_?)del
NC_000009.12:g.21931006A>G rs2131048008
NC_000009.12:g.21931079A>G rs2131048129
NC_000011.10:g.(?_44096233)_(44130158_?)del
NC_000011.10:g.(?_44096233)_(44244388_?)del
NC_000011.10:g.(?_44107663)_(44108268_?)del
NC_000011.10:g.(?_44107663)_(44130158_?)del
NC_000011.10:g.(?_44124769)_(44126975_?)del
NC_000011.10:g.(?_44144227)_(44198038_?)del
NC_000011.10:g.(?_44171591)_(44171762_?)del
NC_000011.10:g.(?_44171591)_(44206979_?)del
NC_000011.10:g.(?_44206773)_(44206979_?)del
NC_000011.10:g.(?_44206793)_(44206959_?)del
NC_000011.10:g.44109194del
NC_000011.9:g.(?_44129235)_(44129808_?)del
NC_000011.9:g.(?_44129235)_(44151698_?)del
NF1, IVS34, G-A, +18
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000127.2(EXT1):c.1418del rs1811893467
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg) rs1812200901
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser) rs2129791225
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
NM_000127.3(EXT1):c.1016G>T (p.Gly339Val)
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly) rs119103290
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000127.3(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu) rs119103287
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly) rs1554580149
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg) rs978347552
NM_000127.3(EXT1):c.1036A>G (p.Arg346Gly) rs1554580147
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile) rs1812200035
NM_000127.3(EXT1):c.103del (p.Ser35fs) rs1563659821
NM_000127.3(EXT1):c.1046_1047del (p.Glu349fs)
NM_000127.3(EXT1):c.1049_1056+1del
NM_000127.3(EXT1):c.1052dup (p.Leu351fs) rs2129790994
NM_000127.3(EXT1):c.1053_1056+1del rs1563575654
NM_000127.3(EXT1):c.1056+1G>A rs886039354
NM_000127.3(EXT1):c.1056+1G>T rs886039354
NM_000127.3(EXT1):c.1056+2T>A rs1554580142
NM_000127.3(EXT1):c.1056+3A>C rs1554580140
NM_000127.3(EXT1):c.1056G>T (p.Gln352His) rs1812199676
NM_000127.3(EXT1):c.1057-1G>C rs1587003661
NM_000127.3(EXT1):c.1057-2A>G rs1587003662
NM_000127.3(EXT1):c.1057-2A>T rs1587003662
NM_000127.3(EXT1):c.1063T>C (p.Cys355Arg) rs1587003655
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr) rs2129786671
NM_000127.3(EXT1):c.1065C>A (p.Cys355Ter) rs11546829
NM_000127.3(EXT1):c.1073dup (p.Met359fs) rs2129786583
NM_000127.3(EXT1):c.1076dup (p.Met359fs) rs2129786574
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter) rs1812174128
NM_000127.3(EXT1):c.111del (p.Glu38fs) rs1586280235
NM_000127.3(EXT1):c.1122G>A (p.Trp374Ter) rs2129786370
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter) rs1812173838
NM_000127.3(EXT1):c.1126del (p.Gln376fs) rs2129786342
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs) rs1812173037
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter) rs2129786157
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter) rs1817891356
NM_000127.3(EXT1):c.115del (p.Glu39fs) rs1586280217
NM_000127.3(EXT1):c.1162C>T (p.Gln388Ter) rs2129786122
NM_000127.3(EXT1):c.1164+1G>A rs2129786098
NM_000127.3(EXT1):c.1164+1G>T
NM_000127.3(EXT1):c.1165-1G>C
NM_000127.3(EXT1):c.1165-2A>C
NM_000127.3(EXT1):c.1167del (p.Pro390fs) rs1812078315
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter) rs561006425
NM_000127.3(EXT1):c.1193del (p.Gln398fs) rs2129772368
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs) rs1369118661
NM_000127.3(EXT1):c.1217del (p.Gln406fs) rs2129772259
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter) rs1812077342
NM_000127.3(EXT1):c.1220del (p.Gln407fs) rs1812077295
NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
NM_000127.3(EXT1):c.1234del (p.Trp412fs) rs1812076996
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs) rs1812076915
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter) rs1587001428
NM_000127.3(EXT1):c.1249del (p.Ser417fs)
NM_000127.3(EXT1):c.124_962+1815del
NM_000127.3(EXT1):c.1271T>G (p.Leu424Ter)
NM_000127.3(EXT1):c.1285-1G>C rs1811943967
NM_000127.3(EXT1):c.1285-1G>T rs1811943967
NM_000127.3(EXT1):c.1290_1297del (p.Ile430fs) rs2129749657
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter) rs1811943921
NM_000127.3(EXT1):c.1296del (p.Asp432fs)
NM_000127.3(EXT1):c.129del (p.Asn44fs) rs1817890492
NM_000127.3(EXT1):c.1303_1304dup (p.Lys436fs) rs2129749620
NM_000127.3(EXT1):c.1307dup (p.His437fs)
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer) rs1563571296
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter) rs1563571318
NM_000127.3(EXT1):c.1316C>G (p.Ser439Ter) rs1563571318
NM_000127.3(EXT1):c.1317dup (p.Arg440fs)
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter) rs1811942900
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter) rs1811942574
NM_000127.3(EXT1):c.1350del (p.Gly451fs) rs1811942117
NM_000127.3(EXT1):c.1383T>A (p.Tyr461Ter)
NM_000127.3(EXT1):c.1384_1388del (p.Leu462fs) rs2129749144
NM_000127.3(EXT1):c.1400dup (p.Tyr467Ter) rs1811941012
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter) rs1811940928
NM_000127.3(EXT1):c.1401del (p.Tyr468fs) rs1554579004
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter) rs1811940837
NM_000127.3(EXT1):c.1405del (p.Tyr469fs) rs1811940788
NM_000127.3(EXT1):c.1407T>G (p.Tyr469Ter)
NM_000127.3(EXT1):c.1417+1G>A rs1586997796
NM_000127.3(EXT1):c.1417+1G>T rs1586997796
NM_000127.3(EXT1):c.1417+1del rs2129748931
NM_000127.3(EXT1):c.1417+2T>A rs1554578992
NM_000127.3(EXT1):c.1418-1G>A rs2129741436
NM_000127.3(EXT1):c.1418-2A>G rs1554578802
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter) rs1811893325
NM_000127.3(EXT1):c.1421T>G (p.Leu474Ter) rs1811893325
NM_000127.3(EXT1):c.1424del (p.Lys475fs)
NM_000127.3(EXT1):c.1431del (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.1434_1440dup (p.Thr481fs) rs1811892597
NM_000127.3(EXT1):c.1437del (p.Lys479fs)
NM_000127.3(EXT1):c.1468del (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter) rs1811890821
NM_000127.3(EXT1):c.1508_1512del (p.Ala503fs)
NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter) rs2129740737
NM_000127.3(EXT1):c.1522del (p.Gln508fs) rs2129740749
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter) rs1383256196
NM_000127.3(EXT1):c.1536+1G>A rs1811889441
NM_000127.3(EXT1):c.1536+1G>C rs1811889441
NM_000127.3(EXT1):c.1537-1G>C rs2129736985
NM_000127.3(EXT1):c.1537-2A>G rs1554578710
NM_000127.3(EXT1):c.1550G>A (p.Trp517Ter)
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter) rs1811865335
NM_000127.3(EXT1):c.1567del (p.Leu523fs) rs1811864784
NM_000127.3(EXT1):c.1576A>T (p.Lys526Ter) rs1563569983
NM_000127.3(EXT1):c.1586G>A (p.Trp529Ter)
NM_000127.3(EXT1):c.15dup (p.Arg6fs) rs759834555
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter) rs1811863055
NM_000127.3(EXT1):c.1624G>T (p.Glu542Ter) rs2129736434
NM_000127.3(EXT1):c.1632+1dup rs1811862827
NM_000127.3(EXT1):c.1632+2T>G
NM_000127.3(EXT1):c.1633-1G>A rs1823354043
NM_000127.3(EXT1):c.1633-1G>T rs1823354043
NM_000127.3(EXT1):c.1633-34_1670del rs1554657940
NM_000127.3(EXT1):c.1642del (p.Ser548fs)
NM_000127.3(EXT1):c.1656del (p.Tyr553fs) rs1823353269
NM_000127.3(EXT1):c.1658dup (p.Tyr553Ter) rs2129720355
NM_000127.3(EXT1):c.1659C>G (p.Tyr553Ter) rs757115396
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer) rs1823353089
NM_000127.3(EXT1):c.165G>A (p.Trp55Ter) rs1586280132
NM_000127.3(EXT1):c.1664dup (p.Asn555fs) rs1586993159
NM_000127.3(EXT1):c.1666dup (p.Ile556fs)
NM_000127.3(EXT1):c.1668_1680dup (p.Val561fs)
NM_000127.3(EXT1):c.1670_1687del (p.Ile557_Leu562del)
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs) rs1823352329
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs) rs1823351882
NM_000127.3(EXT1):c.1678_1679del (p.Ala560fs) rs1823352107
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs) rs1823352107
NM_000127.3(EXT1):c.1685T>C (p.Leu562Pro)
NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs) rs1554657927
NM_000127.3(EXT1):c.1692dup (p.Asp565Ter) rs2129720016
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter) rs1586993117
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs) rs1823350888
NM_000127.3(EXT1):c.1722+1G>A
NM_000127.3(EXT1):c.1722+1G>T rs1823350857
NM_000127.3(EXT1):c.1722+2T>G rs1823350795
NM_000127.3(EXT1):c.1722+2dup
NM_000127.3(EXT1):c.1723-2A>C rs1823255835
NM_000127.3(EXT1):c.1723-2A>T rs1823255835
NM_000127.3(EXT1):c.1745G>A (p.Trp582Ter) rs1586990402
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) rs1586990398
NM_000127.3(EXT1):c.1762dup (p.Arg588fs) rs2129701760
NM_000127.3(EXT1):c.1767dup (p.Val590fs)
NM_000127.3(EXT1):c.176del (p.Pro59fs) rs1817889027
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs) rs1823254431
NM_000127.3(EXT1):c.1773del (p.Tyr592fs) rs1586990361
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter) rs1823254238
NM_000127.3(EXT1):c.1779del (p.Ala594fs) rs2129701642
NM_000127.3(EXT1):c.1784_1785del (p.Arg595fs)
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter) rs1823253698
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter) rs1718310043
NM_000127.3(EXT1):c.1805_1806del (p.Asn601_Ser602insTer)
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter) rs1823253516
NM_000127.3(EXT1):c.1807A>T (p.Lys603Ter)
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter) rs1554657437
NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter) rs1586990317
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter) rs1823253080
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter) rs1823253013
NM_000127.3(EXT1):c.1819_1820del (p.Gly607fs)
NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter) rs2129701251
NM_000127.3(EXT1):c.1835G>A (p.Trp612Ter)
NM_000127.3(EXT1):c.1836G>A (p.Trp612Ter) rs2129701239
NM_000127.3(EXT1):c.1844dup (p.Asp615fs)
NM_000127.3(EXT1):c.1845del (p.Tyr616fs) rs2129701119
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter) rs1563873580
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter) rs886039357
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter) rs2129700894
NM_000127.3(EXT1):c.1883+1G>A rs1823251265
NM_000127.3(EXT1):c.1883+1G>T rs1823251265
NM_000127.3(EXT1):c.1883+2T>C rs1823251224
NM_000127.3(EXT1):c.1884-1G>A rs1131691623
NM_000127.3(EXT1):c.1884-1G>T rs1131691623
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs) rs1823215251
NM_000127.3(EXT1):c.1888dup (p.Tyr630fs)
NM_000127.3(EXT1):c.1900_1901insGG (p.Tyr634fs)
NM_000127.3(EXT1):c.1902C>G (p.Tyr634Ter) rs2129694149
NM_000127.3(EXT1):c.1906del (p.His636fs) rs2129694129
NM_000127.3(EXT1):c.1911C>A (p.Tyr637Ter) rs1586989220
NM_000127.3(EXT1):c.1925del (p.Leu642fs) rs1823214768
NM_000127.3(EXT1):c.1944del (p.Gln648fs) rs1586989202
NM_000127.3(EXT1):c.194del (p.Phe65fs)
NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs) rs1586989189
NM_000127.3(EXT1):c.1965del (p.Leu656fs) rs1823213816
NM_000127.3(EXT1):c.1971del (p.Met657fs) rs1823213767
NM_000127.3(EXT1):c.1998dup (p.Leu667fs) rs2129693616
NM_000127.3(EXT1):c.1A>C (p.Met1Leu)
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter) rs1131692020
NM_000127.3(EXT1):c.2004del (p.Pro669fs) rs1563872934
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter) rs1823212809
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter) rs1823212774
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter) rs2130044984
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs) rs1823212594
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter) rs1823212414
NM_000127.3(EXT1):c.2055+52_*298del
NM_000127.3(EXT1):c.2059del (p.Ser687fs) rs1554656288
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter) rs1817887343
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter) rs1554656266
NM_000127.3(EXT1):c.2115del (p.Met705fs) rs1823137578
NM_000127.3(EXT1):c.2119dup (p.Thr707fs) rs1823137520
NM_000127.3(EXT1):c.2131del (p.Trp711fs) rs2129679904
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter) rs2129679879
NM_000127.3(EXT1):c.218del (p.Asn73fs) rs1554601568
NM_000127.3(EXT1):c.247del (p.Arg83fs) rs1554601559
NM_000127.3(EXT1):c.247dup (p.Arg83fs) rs1554601559
NM_000127.3(EXT1):c.249dup (p.Gln84fs)
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter) rs1064793753
NM_000127.3(EXT1):c.256C>T (p.Arg86Ter)
NM_000127.3(EXT1):c.266dup (p.Asn89fs) rs1817885411
NM_000127.3(EXT1):c.276_277dup (p.Tyr93fs) rs1586279952
NM_000127.3(EXT1):c.279C>G (p.Tyr93Ter) rs1227875610
NM_000127.3(EXT1):c.282dup (p.Gly95fs) rs1563659649
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter) rs1817884837
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs) rs2130044431
NM_000127.3(EXT1):c.287del (p.Lys96fs) rs1817884791
NM_000127.3(EXT1):c.293del (p.Cys98fs) rs2130044416
NM_000127.3(EXT1):c.331A>T (p.Lys111Ter)
NM_000127.3(EXT1):c.345dup (p.Val116fs)
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter) rs982804750
NM_000127.3(EXT1):c.356_357del (p.Tyr119fs)
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter) rs119103289
NM_000127.3(EXT1):c.357C>G (p.Tyr119Ter)
NM_000127.3(EXT1):c.360dup (p.Gln121fs) rs1817882619
NM_000127.3(EXT1):c.361C>T (p.Gln121Ter) rs2130043930
NM_000127.3(EXT1):c.364C>T (p.Gln122Ter) rs1586279835
NM_000127.3(EXT1):c.369_370del (p.Lys126fs) rs2130043872
NM_000127.3(EXT1):c.373G>T (p.Glu125Ter)
NM_000127.3(EXT1):c.373del (p.Glu125fs)
NM_000127.3(EXT1):c.373dup (p.Glu125fs) rs2130043834
NM_000127.3(EXT1):c.379del (p.Ile127fs)
NM_000127.3(EXT1):c.385G>T (p.Glu129Ter)
NM_000127.3(EXT1):c.392dup (p.Tyr131Ter) rs1817881221
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter) rs2130043699
NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter) rs2130043699
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer) rs1817881036
NM_000127.3(EXT1):c.416_419dup (p.Ser141fs) rs2130043564
NM_000127.3(EXT1):c.419del (p.Gly140fs)
NM_000127.3(EXT1):c.435del (p.Ser146fs) rs2130043490
NM_000127.3(EXT1):c.43_53del (p.Ser15fs)
NM_000127.3(EXT1):c.444dup (p.Ser149fs)
NM_000127.3(EXT1):c.455_456del (p.Cys152fs)
NM_000127.3(EXT1):c.456C>A (p.Cys152Ter) rs1554601534
NM_000127.3(EXT1):c.461_462del (p.Phe154fs) rs2130043334
NM_000127.3(EXT1):c.46del (p.Cys16fs) rs1817893887
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs) rs1817879250
NM_000127.3(EXT1):c.487dup (p.Arg163fs) rs1817879250
NM_000127.3(EXT1):c.490_491del (p.Asp164fs) rs1817879125
NM_000127.3(EXT1):c.49_61del (p.Leu17fs)
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter) rs1817895168
NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter)
NM_000127.3(EXT1):c.515_527del (p.His172fs)
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter) rs1817878703
NM_000127.3(EXT1):c.521del (p.Asn173_Leu174insTer) rs1554601526
NM_000127.3(EXT1):c.533_534dup (p.Gln179fs) rs1554601525
NM_000127.3(EXT1):c.535C>T (p.Gln179Ter) rs886039561
NM_000127.3(EXT1):c.538_539del (p.Leu181fs) rs886039486
NM_000127.3(EXT1):c.540_962+399del rs2130039927
NM_000127.3(EXT1):c.542_543del (p.Leu181fs) rs1563659474
NM_000127.3(EXT1):c.551_552del (p.Leu183_Trp184insTer)
NM_000127.3(EXT1):c.552G>A (p.Trp184Ter)
NM_000127.3(EXT1):c.557_558del (p.Asn186fs) rs2130042921
NM_000127.3(EXT1):c.55del (p.Leu19fs)
NM_000127.3(EXT1):c.584T>G (p.Leu195Ter) rs1586279621
NM_000127.3(EXT1):c.593G>T (p.Gly198Val) rs1817876363
NM_000127.3(EXT1):c.598_669del (p.Trp200_Thr223del) rs1554601502
NM_000127.3(EXT1):c.600G>A (p.Trp200Ter) rs1817876148
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs) rs2130045851
NM_000127.3(EXT1):c.613G>T (p.Glu205Ter) rs2130042683
NM_000127.3(EXT1):c.637C>T (p.Gln213Ter) rs2130042549
NM_000127.3(EXT1):c.642_663del (p.Met215fs) rs1586279544
NM_000127.3(EXT1):c.642_675del (p.Met215fs) rs1586279535
NM_000127.3(EXT1):c.644_647dup (p.Lys218fs) rs1554601507
NM_000127.3(EXT1):c.644_654del (p.Met215fs) rs2130042421
NM_000127.3(EXT1):c.649_662del (p.Ala217fs) rs1817874249
NM_000127.3(EXT1):c.651_663del (p.Lys218fs) rs1554601504
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs) rs1817873963
NM_000127.3(EXT1):c.651_665delinsTT (p.Lys218fs)
NM_000127.3(EXT1):c.651_668del (p.Lys218_Thr223del)
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter) rs764093488
NM_000127.3(EXT1):c.674del (p.Asn225fs) rs1817873681
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter) rs1817873582
NM_000127.3(EXT1):c.686dup (p.Asn229fs) rs1817873443
NM_000127.3(EXT1):c.698del (p.Ser233fs) rs1817872999
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter) rs1817893036
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer) rs2130042109
NM_000127.3(EXT1):c.712del (p.Ser238fs)
NM_000127.3(EXT1):c.713del (p.Ser238fs) rs2130042099
NM_000127.3(EXT1):c.739G>T (p.Glu247Ter)
NM_000127.3(EXT1):c.747del (p.Phe250_Leu251insTer) rs1817872132
NM_000127.3(EXT1):c.747dup (p.Phe250fs) rs1817872132
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer) rs2130041954
NM_000127.3(EXT1):c.756del (p.Lys252fs)
NM_000127.3(EXT1):c.757_760dup (p.Asn254fs)
NM_000127.3(EXT1):c.770del (p.Pro257fs) rs2130041891
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs) rs1817871338
NM_000127.3(EXT1):c.773_777del (p.Pro258fs) rs2130041831
NM_000127.3(EXT1):c.787del (p.Met263fs) rs2130041790
NM_000127.3(EXT1):c.791T>G (p.Leu264Arg) rs377162411
NM_000127.3(EXT1):c.798del (p.Phe266fs) rs1563659352
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter) rs1817892723
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg) rs1554601492
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg) rs1554601492
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu) rs886039352
NM_000127.3(EXT1):c.803G>T (p.Gly268Val) rs886039352
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys) rs1064793786
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs) rs1817870176
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer) rs1817870237
NM_000127.3(EXT1):c.830C>G (p.Ser277Ter)
NM_000127.3(EXT1):c.837dup (p.Arg280fs) rs2130041540
NM_000127.3(EXT1):c.838A>G (p.Arg280Gly) rs1554601483
NM_000127.3(EXT1):c.838A>T (p.Arg280Trp)
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser) rs1563659325
NM_000127.3(EXT1):c.846del (p.Leu283fs) rs1554601481
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter) rs1057520608
NM_000127.3(EXT1):c.854dup (p.His285fs) rs1554601476
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter) rs759708614
NM_000127.3(EXT1):c.907del (p.Asp303fs) rs2130041164
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter) rs1817868370
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter) rs1554601474
NM_000127.3(EXT1):c.949del (p.Thr317fs)
NM_000127.3(EXT1):c.957T>A (p.Tyr319Ter) rs1586279297
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter) rs1817866954
NM_000127.3(EXT1):c.962+1G>A rs886039353
NM_000127.3(EXT1):c.962+1G>C rs886039353
NM_000127.3(EXT1):c.962+1G>T rs886039353
NM_000127.3(EXT1):c.962+3_962+6del rs1586279285
NM_000127.3(EXT1):c.963-2A>G rs1554580162
NM_000127.3(EXT1):c.988_989insTC (p.Asn330fs) rs1563575697
NM_000127.3(EXT1):c.992C>A (p.Ala331Asp) rs1554580153
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.3(KIT):c.2446_2447delinsAT (p.Asp816Ile) rs1057519709
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000314.8(PTEN):c.-326=
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu) rs104893700
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) rs869320729
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) rs104893709
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259
NM_000388.4:c.2628_2629insAlu
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.681G>C (p.Gln227His) rs137854533
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_000546.6(TP53):c.331del (p.Leu111fs) rs2151039122
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.449C>T (p.Thr150Ile) rs2151032692
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.494A>T (p.Gln165Leu)
NM_000546.6(TP53):c.513G>T (p.Glu171Asp)
NM_000546.6(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.6(TP53):c.549A>T (p.Ser183=)
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.576del (p.Gln192fs)
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.719G>A (p.Ser240Asn)
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.752T>A (p.Ile251Asn) rs730882027
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_001042492.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1062+1G>A rs1597681200
NM_001042492.3(NF1):c.1120del (p.Asp374fs)
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1555del (p.Gln519fs) rs2066874267
NM_001042492.3(NF1):c.1642-8A>G rs267606602
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_001042492.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_001042492.3(NF1):c.2410-12T>G rs876657932
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.289-2A>G rs2143670119
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.2991-1G>C rs1060500273
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter) rs2151435633
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter) rs2067188361
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3870+1G>T rs1131691075
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg) rs199474781
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) rs786204157
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) rs1567862991
NM_001042492.3(NF1):c.4578-1G>A rs1555618999
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) rs137854555
NM_001042492.3(NF1):c.479+5G>A rs1567818033
NM_001042492.3(NF1):c.4835+1G>T rs1085307819
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter) rs2151538007
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter) rs1597831990
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter) rs786202177
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5629_5630del (p.Leu1877fs) rs2069448326
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.3(NF1):c.5812+2T>G rs1555533887
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.654+1G>T rs1060500245
NM_001042492.3(NF1):c.6705-1G>C rs1060500356
NM_001042492.3(NF1):c.6819+2T>C rs1135402894
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter) rs2066138676
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.6921+1G>T rs1060500355
NM_001042492.3(NF1):c.6922-1G>A
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter) rs2069793099
NM_001042492.3(NF1):c.7145del (p.Phe2382fs) rs2151565168
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter) rs2070073649
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs) rs1597858594
NM_001042492.3(NF1):c.731-1G>C rs1555608928
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.750dup (p.Asp251Ter)
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly) rs1597866846
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs) rs1060500387
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.952_953del (p.Glu318fs) rs2066507116
NM_001042492.3(NF1):c.952del (p.Glu318fs) rs1555610881
NM_001123385.2(BCOR):c.4751del (p.Asn1584fs) rs2146872060
NM_001127208.3(TET2):c.5618T>C (p.Ile1873Thr)
NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001370259.2(MEN1):c.1350+1G>A rs863223311
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg) rs1565635212
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)
NM_001754.5(RUNX1):c.161A>T (p.Glu54Val) rs2058004521
NM_001754.5(RUNX1):c.267G>A (p.Leu89=) rs2146409992
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_001754.5(RUNX1):c.588del (p.Val197fs) rs2057541271
NM_001987.5(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) rs587776710
NM_001987.5(ETV6):c.226G>T (p.Glu76Ter) rs121434637
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer) rs2062673859
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs) rs2062673949
NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs) rs2062674043
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs) rs2062674122
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs) rs2062674253
NM_002049.4(GATA1):c.219A>G (p.Pro73=) rs2062674480
NM_002049.4(GATA1):c.219del (p.Val74fs) rs2062674491
NM_002049.4(GATA1):c.49_50del (p.Gln17fs) rs2062673530
NM_002049.4(GATA1):c.4dup (p.Glu2fs) rs2062673272
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002168.4(IDH2):c.515G>T (p.Arg172Met) rs121913503
NM_002168.4(IDH2):c.516G>C (p.Arg172Ser) rs1057519736
NM_002221.4(ITPKB):c.964G>A (p.Ala322Thr)
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) rs587776806
NM_002520.7(NPM1):c.863_864insCATG (p.Trp288fs) rs1554138188
NM_002520.7(NPM1):c.863_864insCCTG (p.Trp288fs) rs1554138189
NM_002520.7(NPM1):c.863_864insCGTG (p.Trp288fs) rs1554138188
NM_002520.7(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs) rs1581263026
NM_002520.7(NPM1):c.869_875delinsCCCTGGCTAGG (p.Trp290fs) rs1561878500
NM_002520.7(NPM1):c.875del (p.Lys292fs) rs2113301331
NM_002520.7(NPM1):c.885A>G (p.Ter295=) rs2113301391
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg) rs863224946
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) rs121913488
NM_004119.3(FLT3):c.2503G>C (p.Asp835His) rs121913488
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) rs121913488
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2504A>C (p.Asp835Ala) rs121909646
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) rs121909646
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2505T>G (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2506A>C (p.Ile836Leu) rs1057519726
NM_004119.3(FLT3):c.2508C>G (p.Ile836Met) rs121913232
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Ser840_Asn841insGlySer) rs398122514
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys) rs369632687
NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys) rs1468313242
NM_004364.5(CEBPA):c.115_121del (p.Pro39fs) rs587776848
NM_004364.5(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.5(CEBPA):c.125del (p.Pro42fs) rs2145264339
NM_004364.5(CEBPA):c.146del (p.Pro49fs)
NM_004364.5(CEBPA):c.148G>T (p.Glu50Ter) rs121912791
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter) rs1967195832
NM_004364.5(CEBPA):c.174_184del (p.Glu59fs)
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter) rs1210600080
NM_004364.5(CEBPA):c.179dup (p.Ser61fs)
NM_004364.5(CEBPA):c.180_183del (p.Ile62fs)
NM_004364.5(CEBPA):c.186_190del (p.Asp63fs) rs1060502121
NM_004364.5(CEBPA):c.195_198delinsACG (p.Ser65fs) rs1600023950
NM_004364.5(CEBPA):c.206del (p.Asp69fs) rs1967194243
NM_004364.5(CEBPA):c.209del (p.Pro70fs) rs2145263762
NM_004364.5(CEBPA):c.211_214dup (p.Ala72fs) rs587776849
NM_004364.5(CEBPA):c.247del (p.Gln83fs) rs1967192886
NM_004364.5(CEBPA):c.251A>T (p.His84Leu) rs28931590
NM_004364.5(CEBPA):c.292del (p.Thr98fs)
NM_004364.5(CEBPA):c.314A>T (p.Asp105Val) rs2145263100
NM_004364.5(CEBPA):c.320del (p.Asp107fs) rs1600023511
NM_004364.5(CEBPA):c.324C>A (p.Tyr108Ter)
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs) rs1555742213
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.60dup (p.Ser21fs) rs2145264820
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.69del (p.His24fs) rs2145264731
NM_004364.5(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004752.3(GCM2):c.[1136T>A;751C>G]
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn) rs121912472
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005154.3(USP8):c.[2138T>G;2150A>G]
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) rs672601308
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005157.6(ABL1):c.931T>C (p.Phe311Leu) rs137853304
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)
NM_005373.3(MPL):c.1025del (p.Pro342fs) rs1286303912
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
NM_005373.3(MPL):c.1145del (p.Pro382fs)
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.3(MPL):c.11G>A (p.Trp4Ter)
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter) rs2153918764
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter) rs1647059649
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter) rs2153918792
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs) rs2153918800
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) rs1647060064
NM_005373.3(MPL):c.1305del (p.Asp434_Trp435insTer) rs2153918831
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.1320del (p.Pro441fs)
NM_005373.3(MPL):c.1346dup (p.Glu450fs) rs2153919240
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) rs1647073222
NM_005373.3(MPL):c.1368_1369del (p.Tyr457fs)
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter) rs1469739934
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.3(MPL):c.1463_1466dup (p.Ala490fs) rs2153919318
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs) rs1647077635
NM_005373.3(MPL):c.1489_1490del (p.Ala497fs) rs2153919403
NM_005373.3(MPL):c.1523dup (p.Leu510fs)
NM_005373.3(MPL):c.1532_1535del (p.Leu511fs) rs1332801952
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.3(MPL):c.1546C>T (p.Gln516Ter) rs2153919438
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter) rs1392072769
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1671dup (p.Asp558fs) rs1647100516
NM_005373.3(MPL):c.1678del (p.Cys560fs)
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)
NM_005373.3(MPL):c.1725dup (p.Glu576fs)
NM_005373.3(MPL):c.1745del (p.Leu582fs)
NM_005373.3(MPL):c.1748_1749del (p.Cys583fs)
NM_005373.3(MPL):c.1810dup (p.Leu604fs)
NM_005373.3(MPL):c.1814_1817del (p.Ser605fs) rs1402847914
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter) rs1373623383
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.190C>T (p.Gln64Ter) rs2153916273
NM_005373.3(MPL):c.209del (p.Pro70fs)
NM_005373.3(MPL):c.214G>T (p.Glu72Ter) rs1406715863
NM_005373.3(MPL):c.236del (p.Leu79fs)
NM_005373.3(MPL):c.252del (p.Met84fs) rs2153916450
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) rs763144679
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) rs759361904
NM_005373.3(MPL):c.278_285dup (p.Pro96fs)
NM_005373.3(MPL):c.308del (p.Leu103fs) rs1361003749
NM_005373.3(MPL):c.311del (p.Phe104fs) rs2153916495
NM_005373.3(MPL):c.313_316del (p.Phe105fs) rs2153916498
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.388_389del (p.Val130fs)
NM_005373.3(MPL):c.407C>T (p.Pro136Leu)
NM_005373.3(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.3(MPL):c.417dup (p.Lys140fs)
NM_005373.3(MPL):c.432dup (p.Ser145fs)
NM_005373.3(MPL):c.455del (p.Ile152fs) rs1647014461
NM_005373.3(MPL):c.478G>T (p.Glu160Ter) rs768536266
NM_005373.3(MPL):c.582C>A (p.Cys194Ter)
NM_005373.3(MPL):c.603_606del (p.His201fs) rs1438181248
NM_005373.3(MPL):c.655dup (p.Gln219fs) rs1647016174
NM_005373.3(MPL):c.709G>T (p.Glu237Ter)
NM_005373.3(MPL):c.744_747dup (p.Asn250fs) rs587778518
NM_005373.3(MPL):c.793del (p.Leu265fs) rs1647020172
NM_005373.3(MPL):c.807G>A (p.Trp269Ter) rs1647020318
NM_005373.3(MPL):c.840del (p.Pro281fs)
NM_005373.3(MPL):c.842del (p.Pro281fs) rs2153917100
NM_005373.3(MPL):c.873C>A (p.Cys291Ter)
NM_005373.3(MPL):c.89T>A (p.Leu30Ter)
NM_005373.3(MPL):c.916C>T (p.Gln306Ter)
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)
NM_005373.3(MPL):c.94del (p.Ala32fs) rs2153916214
NM_005373.3(MPL):c.972_973del (p.Asp326fs) rs2153917276
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005551.5(KLK2):c.748C>T (p.Arg250Trp)
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>C (p.Arg132Pro) rs121913500
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) rs137853008
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_015338.6(ASXL1):c.1892_1938del (p.His631fs)
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226
NM_016222.3:c.[711G>T;712C>A]
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs) rs1761157695
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) rs2132820264
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) rs1397549896
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) rs2132968121
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9319+1G>T
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9658del (p.Glu3220fs) rs922700209
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022552.5(DNMT3A):c.2644C>A (p.Arg882Ser) rs377577594
NM_022552.5(DNMT3A):c.2644C>G (p.Arg882Gly) rs377577594
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.2645G>C (p.Arg882Pro) rs147001633
NM_022552.5(DNMT3A):c.2645G>T (p.Arg882Leu) rs147001633
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.131+1del
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.238-1G>A rs587776559
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024529.5(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.626_629del (p.Lys209fs) rs2103126261
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.687_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_058172.6(ANTXR2):c.1069del (p.Ala357fs) rs556120147
NM_058172.6(ANTXR2):c.1073del (p.Pro358fs) rs312262690
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_058172.6(ANTXR2):c.1139del (p.Tyr380fs)
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) rs137852901
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) rs546102223
NM_058172.6(ANTXR2):c.1294C>T (p.Arg432Ter)
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) rs797045028
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) rs137852902
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) rs137852905
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) rs137852904
NM_058172.6(ANTXR2):c.903dup (p.Ser302fs) rs1553933367
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) rs137852903
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_207122.1(EXT2):c.861_1173+5287del
NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs) rs2135020617
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter) rs1954414269
NM_207122.2(EXT2):c.1013del (p.Gly338fs) rs2135020654
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr) rs751598619
NM_207122.2(EXT2):c.1024del (p.Val342fs) rs1954415156
NM_207122.2(EXT2):c.1032del (p.Ile344fs) rs1590570953
NM_207122.2(EXT2):c.1044T>A (p.Tyr348Ter)
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu) rs1954415964
NM_207122.2(EXT2):c.1074G>A (p.Trp358Ter) rs1450980907
NM_207122.2(EXT2):c.1079+1G>A rs1369420640
NM_207122.2(EXT2):c.1079+1G>C rs1369420640
NM_207122.2(EXT2):c.1079+1G>T rs1369420640
NM_207122.2(EXT2):c.1080-1G>A rs2135029007
NM_207122.2(EXT2):c.1080-1G>T rs2135029007
NM_207122.2(EXT2):c.1080-2A>G rs558968332
NM_207122.2(EXT2):c.1080-2del rs2135029005
NM_207122.2(EXT2):c.1102G>T (p.Glu368Ter)
NM_207122.2(EXT2):c.1104_1108del (p.Glu368fs)
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs) rs1954470017
NM_207122.2(EXT2):c.1132C>T (p.Gln378Ter) rs1555006433
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter) rs1954470670
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter) rs753083913
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs) rs1954471038
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter) rs570580540
NM_207122.2(EXT2):c.1172_1173dup (p.Ala392fs)
NM_207122.2(EXT2):c.1173+2T>A rs1565205890
NM_207122.2(EXT2):c.1174-2A>G
NM_207122.2(EXT2):c.1179del (p.Trp394fs) rs1955074882
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter) rs1191238988
NM_207122.2(EXT2):c.1186_1192del (p.Trp396fs)
NM_207122.2(EXT2):c.1187G>A (p.Trp396Ter) rs750542485
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) rs1590618771
NM_207122.2(EXT2):c.1197C>G (p.Tyr399Ter)
NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter)
NM_207122.2(EXT2):c.1201del (p.Gln401fs) rs2135127698
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter) rs1955075568
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter) rs1448103584
NM_207122.2(EXT2):c.1245del (p.Asn415fs)
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter) rs1955076595
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter) rs2135128105
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter) rs1403873034
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer) rs1954079044
NM_207122.2(EXT2):c.1305+1G>A rs864309637
NM_207122.2(EXT2):c.1484del (p.Asn495fs)
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter) rs2135204843
NM_207122.2(EXT2):c.1627dup (p.Met543fs) rs1590647371
NM_207122.2(EXT2):c.1698C>A (p.Tyr566Ter)
NM_207122.2(EXT2):c.1731dup (p.Asn578fs)
NM_207122.2(EXT2):c.1740G>A (p.Trp580Ter) rs1564986609
NM_207122.2(EXT2):c.1812del (p.Phe604fs)
NM_207122.2(EXT2):c.1930del (p.Ile644fs)
NM_207122.2(EXT2):c.203_258del (p.Val68fs) rs1954081053
NM_207122.2(EXT2):c.211del (p.Leu71fs) rs1954081372
NM_207122.2(EXT2):c.244del (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.244dup (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.245dup (p.Asp82fs) rs1555002460
NM_207122.2(EXT2):c.248_249del (p.Leu83fs)
NM_207122.2(EXT2):c.257_263del (p.Arg86fs) rs1954082764
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter) rs2134967046
NM_207122.2(EXT2):c.314del (p.Lys105fs) rs1954084273
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter) rs767802942
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) rs1565196489
NM_207122.2(EXT2):c.383_390del (p.Arg128fs)
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) rs1954086080
NM_207122.2(EXT2):c.398_401dup (p.Met135fs) rs886041272
NM_207122.2(EXT2):c.398_402del (p.Leu133fs) rs2134967717
NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter) rs569199683
NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter) rs1555002543
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.459_462del (p.Val154fs) rs1954088614
NM_207122.2(EXT2):c.482del (p.Asn161fs) rs1590548336
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207122.2(EXT2):c.516del (p.Ala173fs) rs2134968744
NM_207122.2(EXT2):c.536+1G>A rs1954091762
NM_207122.2(EXT2):c.536+1G>C rs1954091762
NM_207122.2(EXT2):c.537-4_561del rs2134971478
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter) rs886039565
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter) rs2134971524
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) rs886039358
NM_207122.2(EXT2):c.590del (p.Pro197fs) rs1565197245
NM_207122.2(EXT2):c.602_603del (p.Thr201fs) rs1954107890
NM_207122.2(EXT2):c.610del (p.Asp204fs)
NM_207122.2(EXT2):c.620_626+158del rs2134971964
NM_207122.2(EXT2):c.626+1G>A rs1057521132
NM_207122.2(EXT2):c.626+1G>T rs1057521132
NM_207122.2(EXT2):c.626+2T>G rs1954108778
NM_207122.2(EXT2):c.626+2_626+5del rs1954108641
NM_207122.2(EXT2):c.627-2A>G rs1064793854
NM_207122.2(EXT2):c.64_68del (p.His22fs) rs2134965356
NM_207122.2(EXT2):c.659G>A (p.Trp220Ter)
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter) rs121918281
NM_207122.2(EXT2):c.668G>C (p.Arg223Pro) rs764379119
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter) rs1565199251
NM_207122.2(EXT2):c.678C>A (p.Tyr226Ter)
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.680A>G (p.Asp227Gly) rs2134984829
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) rs1319747883
NM_207122.2(EXT2):c.705_706del (p.Leu236fs) rs2134985142
NM_207122.2(EXT2):c.728del (p.Pro243fs) rs2134985434
NM_207122.2(EXT2):c.729del (p.Glu244fs) rs2134985455
NM_207122.2(EXT2):c.743+1G>A rs886039567
NM_207122.2(EXT2):c.743+1_743+2dup rs1590555709
NM_207122.2(EXT2):c.744-1G>A rs1954372994
NM_207122.2(EXT2):c.744-2A>C rs864309638
NM_207122.2(EXT2):c.750del (p.Gln251fs) rs2135014654
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter) rs1954373394
NM_207122.2(EXT2):c.756C>G (p.Tyr252Ter)
NM_207122.2(EXT2):c.772C>T (p.Gln258Ter) rs267606786
NM_207122.2(EXT2):c.779del (p.Gly260fs) rs1410604006
NM_207122.2(EXT2):c.782_783del (p.Leu261fs) rs1954374127
NM_207122.2(EXT2):c.783_784del (p.His262fs) rs2135014852
NM_207122.2(EXT2):c.785dup (p.His262fs) rs1555005328
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) rs1954375189
NM_207122.2(EXT2):c.82_143del (p.Thr28fs)
NM_207122.2(EXT2):c.859del (p.Thr287fs)
NM_207122.2(EXT2):c.869C>A (p.Ser290Ter)
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
NM_207122.2(EXT2):c.87_88del (p.Phe30fs) rs886039744
NM_207122.2(EXT2):c.89del (p.Phe30fs) rs2134965481
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199
NM_207122.2(EXT2):c.913del (p.Val305fs) rs1954378294
NM_207122.2(EXT2):c.928C>T (p.Gln310Ter) rs1555005398
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) rs763718818
NM_207122.2(EXT2):c.939+1G>T
NM_207122.2(EXT2):c.939+1del rs2135015765
NM_207122.2(EXT2):c.940-2A>G rs1954411419
NM_207122.2(EXT2):c.952T>C (p.Cys318Arg) rs2135020224
NM_207122.2(EXT2):c.952_964del (p.Cys318fs) rs1954411719
NM_207122.2(EXT2):c.956_957del (p.Val319fs) rs1590570665
NM_207122.2(EXT2):c.960del (p.Leu321fs) rs1954412043
Single allele
inv(16)(p13.3q24.3)
t(11;12)(p15;p13)
t(11;17)(q23;q12-q21)
t(11;17)(q23;q25)
t(16;16)(p13.3;q24.3)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.