ClinVar Miner

List of variants reported as pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 680
Download table as spreadsheet
HGVS dbSNP
ANTXR2, 1-BP DEL, 1074T
APC, 1-BP DEL, 3720T
APC, 2-BP INS, CODON 1924
APC, 4-BP DEL, 7929TCTA
ARHGAP26, 52-BP INS
ARHGAP26, 74-BP INS
CASR, ALU INS, CODON 877
EXT1, 1-BP DEL, 1364C
EXT1, 1-BP DEL, 2120T
EXT1, 1-BP INS, 2077C
EXT1, 4-BP INS, NT1035
GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3
LMNA-NTRK1 fusion
MTAP, 885A-G, ARG100ARG
MTAP, IVS9AS, A-G, -2
NC_000001.11:g.(?_43349253)_(43349369_?)del
NC_000001.11:g.198807802C>A rs9660525
NC_000008.10:g.(?_118596815_118825146del
NC_000008.10:g.(?_118788188_118817001del
NC_000008.10:g.(?_118811951)_(118834836_?)del
NC_000008.10:g.(?_118819436)_(118847810_?)del
NC_000008.10:g.(?_118825208_119035925del
NC_000008.10:g.(?_118842449)_(118842608_?)del
NC_000008.10:g.(?_119120510_119123163del
NC_000008.11:g.(?_117799692)_(117799917_?)del
NC_000008.11:g.(?_117799692)_(117837221_?)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_000008.11:g.117818435dup
NC_000008.11:g.117819794del
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)_(44109303_?)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_000011.9:g.(?_44146456_44156975del
NF1, IVS34, G-A, +18
NM_000038.5(APC):c.4575_4576insAlu1
NM_000038.6(APC):c.-2_136-2903del
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3692_3693insA (p.His1232fs)
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000127.2(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
NM_000127.2(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu) rs119103287
NM_000127.2(EXT1):c.1036A>G (p.Arg346Gly) rs1554580147
NM_000127.2(EXT1):c.103del (p.Ser35fs) rs1563659821
NM_000127.2(EXT1):c.1053_1056+1del rs1563575654
NM_000127.2(EXT1):c.1056+1G>A rs886039354
NM_000127.2(EXT1):c.1056+2T>A rs1554580142
NM_000127.2(EXT1):c.1056+3A>C rs1554580140
NM_000127.2(EXT1):c.1057-1G>C rs1587003661
NM_000127.2(EXT1):c.1057-2A>G rs1587003662
NM_000127.2(EXT1):c.1065C>A (p.Cys355Ter) rs11546829
NM_000127.2(EXT1):c.1236G>A (p.Trp412Ter) rs1587001428
NM_000127.2(EXT1):c.1316C>G (p.Ser439Ter) rs1563571318
NM_000127.2(EXT1):c.1401del (p.Tyr468fs) rs1554579004
NM_000127.2(EXT1):c.1417+1G>A rs1586997796
NM_000127.2(EXT1):c.1417+2T>A rs1554578992
NM_000127.2(EXT1):c.1418-2A>G rs1554578802
NM_000127.2(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.2(EXT1):c.1468del (p.Leu490fs) rs886039355
NM_000127.2(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.2(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000127.2(EXT1):c.1537-2A>G rs1554578710
NM_000127.2(EXT1):c.1576A>T (p.Lys526Ter) rs1563569983
NM_000127.2(EXT1):c.1633-2A>G rs1233701691
NM_000127.2(EXT1):c.1633-34_1670del rs1554657940
NM_000127.2(EXT1):c.165G>A (p.Trp55Ter) rs1586280132
NM_000127.2(EXT1):c.1664dup (p.Asn555fs) rs1586993159
NM_000127.2(EXT1):c.1685_1701dup (p.Thr568fs) rs1554657927
NM_000127.2(EXT1):c.1745G>A (p.Trp582Ter) rs1586990402
NM_000127.2(EXT1):c.1810G>T (p.Glu604Ter) rs1554657437
NM_000127.2(EXT1):c.1817G>A (p.Trp606Ter) rs1586990317
NM_000127.2(EXT1):c.1878C>G (p.Tyr626Ter) rs886039357
NM_000127.2(EXT1):c.1884-1G>A rs1131691623
NM_000127.2(EXT1):c.1911C>A (p.Tyr637Ter) rs1586989220
NM_000127.2(EXT1):c.2000T>A (p.Leu667Ter) rs1131692020
NM_000127.2(EXT1):c.2004del (p.Pro669fs) rs1563872934
NM_000127.2(EXT1):c.2059del (p.Ser687fs) rs1554656288
NM_000127.2(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.2(EXT1):c.2104C>T (p.Gln702Ter) rs1554656266
NM_000127.2(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000127.2(EXT1):c.218del (p.Asn73fs) rs1554601568
NM_000127.2(EXT1):c.247dup (p.Arg83fs) rs1554601559
NM_000127.2(EXT1):c.276_277dup (p.Tyr93fs) rs1586279952
NM_000127.2(EXT1):c.279C>G (p.Tyr93Ter) rs1227875610
NM_000127.2(EXT1):c.282dup (p.Gly95fs) rs1563659649
NM_000127.2(EXT1):c.357C>A (p.Tyr119Ter) rs119103289
NM_000127.2(EXT1):c.364C>T (p.Gln122Ter) rs1586279835
NM_000127.2(EXT1):c.369_370delinsT (p.Lys123fs) rs1563659571
NM_000127.2(EXT1):c.456C>A (p.Cys152Ter) rs1554601534
NM_000127.2(EXT1):c.521del (p.Asn173_Leu174insTer) rs1554601526
NM_000127.2(EXT1):c.528_535del (p.Lys177fs) rs587776540
NM_000127.2(EXT1):c.533_534dup (p.Gln179fs) rs1554601525
NM_000127.2(EXT1):c.584T>G (p.Leu195Ter) rs1586279621
NM_000127.2(EXT1):c.598_669del (p.Trp200_Thr223del) rs1554601502
NM_000127.2(EXT1):c.642_663del (p.Met215fs) rs1586279544
NM_000127.2(EXT1):c.642_675del (p.Met215fs) rs1586279535
NM_000127.2(EXT1):c.644_647dup (p.Lys218fs) rs1554601507
NM_000127.2(EXT1):c.651_663del (p.Lys218fs) rs1554601504
NM_000127.2(EXT1):c.798del (p.Phe266fs) rs1563659352
NM_000127.2(EXT1):c.838A>G (p.Arg280Gly) rs1554601483
NM_000127.2(EXT1):c.840G>C (p.Arg280Ser) rs1563659325
NM_000127.2(EXT1):c.846del (p.Leu283fs) rs1554601481
NM_000127.2(EXT1):c.852T>A (p.Tyr284Ter) rs1057520608
NM_000127.2(EXT1):c.854dup (p.His285fs) rs1554601476
NM_000127.2(EXT1):c.913C>T (p.Gln305Ter) rs1554601474
NM_000127.2(EXT1):c.957T>A (p.Tyr319Ter) rs1586279297
NM_000127.2(EXT1):c.962+1G>A rs886039353
NM_000127.2(EXT1):c.962+1G>C rs886039353
NM_000127.2(EXT1):c.962+1G>T rs886039353
NM_000127.2(EXT1):c.962+3_962+6del rs1586279285
NM_000127.2(EXT1):c.963-2A>G rs1554580162
NM_000127.2(EXT1):c.988_989insTC (p.Asn330fs) rs1563575697
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg)
NM_000127.3(EXT1):c.1018C>T rs119103290
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)
NM_000127.3(EXT1):c.1056G>T (p.Gln352His)
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr)
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter)
NM_000127.3(EXT1):c.111del (p.Glu38fs) rs1586280235
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter)
NM_000127.3(EXT1):c.1126del (p.Gln376fs)
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs)
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter)
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter)
NM_000127.3(EXT1):c.115del (p.Glu39fs) rs1586280217
NM_000127.3(EXT1):c.1167del (p.Pro390fs)
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter)
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs) rs1369118661
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter)
NM_000127.3(EXT1):c.1220del (p.Gln407fs)
NM_000127.3(EXT1):c.1234del (p.Trp412fs)
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs)
NM_000127.3(EXT1):c.124_962+1815del
NM_000127.3(EXT1):c.1285-1G>C
NM_000127.3(EXT1):c.1285-1G>T
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter)
NM_000127.3(EXT1):c.129del (p.Asn44fs)
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter)
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter)
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter)
NM_000127.3(EXT1):c.1350del (p.Gly451fs)
NM_000127.3(EXT1):c.1400dup (p.Tyr467Ter)
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter)
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter)
NM_000127.3(EXT1):c.1405del (p.Tyr469fs)
NM_000127.3(EXT1):c.1417+1G>T
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter)
NM_000127.3(EXT1):c.1431del (p.Ser478fs)
NM_000127.3(EXT1):c.1434_1440dup (p.Thr481fs)
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)
NM_000127.3(EXT1):c.1522del (p.Gln508fs)
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter)
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)
NM_000127.3(EXT1):c.1567del (p.Leu523fs)
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter)
NM_000127.3(EXT1):c.1633-1G>A
NM_000127.3(EXT1):c.1633-1G>T
NM_000127.3(EXT1):c.1656del (p.Tyr553fs)
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer)
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs)
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs)
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs)
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter)
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs)
NM_000127.3(EXT1):c.1722+1G>T
NM_000127.3(EXT1):c.1722+2T>G
NM_000127.3(EXT1):c.1723-2A>C
NM_000127.3(EXT1):c.1723-2A>T
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) rs1586990398
NM_000127.3(EXT1):c.176del (p.Pro59fs)
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs)
NM_000127.3(EXT1):c.1773del (p.Tyr592fs) rs1586990361
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter)
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter)
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter)
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter)
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter)
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)
NM_000127.3(EXT1):c.1845del (p.Tyr616fs)
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter)
NM_000127.3(EXT1):c.1883+1G>A
NM_000127.3(EXT1):c.1883+1G>T
NM_000127.3(EXT1):c.1883+2T>C
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs)
NM_000127.3(EXT1):c.1906del (p.His636fs)
NM_000127.3(EXT1):c.1925del (p.Leu642fs)
NM_000127.3(EXT1):c.1944del (p.Gln648fs) rs1586989202
NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs) rs1586989189
NM_000127.3(EXT1):c.1965del (p.Leu656fs)
NM_000127.3(EXT1):c.1971del (p.Met657fs)
NM_000127.3(EXT1):c.1998dup (p.Leu667fs)
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter)
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter)
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter)
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs)
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter)
NM_000127.3(EXT1):c.2077del (p.Ala693fs)
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter)
NM_000127.3(EXT1):c.2115del (p.Met705fs)
NM_000127.3(EXT1):c.2119dup (p.Thr707fs)
NM_000127.3(EXT1):c.247del (p.Arg83fs)
NM_000127.3(EXT1):c.266dup (p.Asn89fs)
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter)
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs)
NM_000127.3(EXT1):c.287del (p.Lys96fs)
NM_000127.3(EXT1):c.330_331insTCTACGT (p.Lys111delinsSerThrTer)
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter)
NM_000127.3(EXT1):c.360dup (p.Gln121fs)
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter)
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer)
NM_000127.3(EXT1):c.46del (p.Cys16fs)
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs)
NM_000127.3(EXT1):c.487dup (p.Arg163fs)
NM_000127.3(EXT1):c.490_491del (p.Asp164fs)
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter)
NM_000127.3(EXT1):c.538_539del (p.Leu181fs) rs886039486
NM_000127.3(EXT1):c.540_962+399del
NM_000127.3(EXT1):c.542_543del (p.Leu181fs) rs1563659474
NM_000127.3(EXT1):c.557_558del (p.Asn186fs)
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs)
NM_000127.3(EXT1):c.649_662del (p.Ala217fs)
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs)
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter)
NM_000127.3(EXT1):c.674del (p.Asn225fs)
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter)
NM_000127.3(EXT1):c.686dup (p.Asn229fs)
NM_000127.3(EXT1):c.698del (p.Ser233fs)
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer)
NM_000127.3(EXT1):c.747dup (p.Phe250fs)
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs)
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter)
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg)
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs)
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer)
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter)
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter)
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2446_2447delinsAT (p.Asp816Ile) rs1057519709
NM_000222.3(KIT):c.2447A>T rs121913507
NM_000244.3(MEN1):c.1846T>A (p.Ter616Arg) rs1565635212
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1642-8A>G rs267606602
NM_000267.3(NF1):c.1721+3A>G rs1057518904
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_000267.3(NF1):c.3870+1G>T rs1131691075
NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) rs1567862991
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) rs137854555
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) rs786203896
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) rs1131691073
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1981C>T rs137853294
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.206G>A (p.Arg69His) rs193922432
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) rs869320729
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) rs104893709
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.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259
NM_000401.3(EXT2):c.1005_1006dup (p.His336fs) rs886041199
NM_000401.3(EXT2):c.1027C>T (p.Gln343Ter) rs1555005398
NM_000401.3(EXT2):c.1036C>T (p.Gln346Ter) rs763718818
NM_000401.3(EXT2):c.1173G>A (p.Trp391Ter) rs1450980907
NM_000401.3(EXT2):c.1178+1G>A rs1369420640
NM_000401.3(EXT2):c.1231C>T (p.Gln411Ter) rs1555006433
NM_000401.3(EXT2):c.1272+2T>A rs1565205890
NM_000401.3(EXT2):c.1286G>A (p.Trp429Ter) rs750542485
NM_000401.3(EXT2):c.1404+1G>A rs864309637
NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) rs772690312
NM_000401.3(EXT2):c.166C>T (p.Arg56Ter) rs754533434
NM_000401.3(EXT2):c.1839G>A (p.Trp613Ter) rs1564986609
NM_000401.3(EXT2):c.343del (p.Asp115fs) rs1555002457
NM_000401.3(EXT2):c.344dup (p.Asp115fs) rs1555002460
NM_000401.3(EXT2):c.497_500dup (p.Met168fs) rs886041272
NM_000401.3(EXT2):c.528C>A (p.Tyr176Ter) rs1555002543
NM_000401.3(EXT2):c.613C>T (p.Gln205Ter) rs121918279
NM_000401.3(EXT2):c.643C>T (p.Arg215Ter) rs886039358
NM_000401.3(EXT2):c.725+1G>A rs1057521132
NM_000401.3(EXT2):c.726-2A>G rs1064793854
NM_000401.3(EXT2):c.765C>G (p.Tyr255Ter) rs121918281
NM_000401.3(EXT2):c.767G>C (p.Arg256Pro) rs764379119
NM_000401.3(EXT2):c.769C>T (p.Gln257Ter) rs1565199251
NM_000401.3(EXT2):c.778G>A (p.Asp260Asn) rs121918280
NM_000401.3(EXT2):c.842+1G>A rs886039567
NM_000401.3(EXT2):c.843-2A>C rs864309638
NM_000401.3(EXT2):c.871C>T (p.Gln291Ter) rs267606786
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) rs367543285
NM_000460.4(THPO):c.-47del
NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.6(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.6(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.6(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.6(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) rs771063992
NM_001042492.2(NF1):c.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) rs121918546
NM_001276697.2(TP53):c.-3_4dup (p.Ala2fs) rs863223301
NM_001282386.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282386.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282386.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282386.1(IDH1):c.395G>C (p.Arg132Pro) rs121913500
NM_001282386.1(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_001285829.1(CEBPA):c.-107A>T rs28931590
NM_001285829.1(CEBPA):c.-147_-144dup rs587776849
NM_001285829.1(CEBPA):c.-210G>T rs121912791
NM_001285829.1(CEBPA):c.-217del rs137852730
NM_001285829.1(CEBPA):c.-243_-237del rs587776848
NM_001285829.1(CEBPA):c.-290del rs137852728
NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp) rs267606870
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001289910.1(IDH2):c.263G>T (p.Arg88Leu) rs121913502
NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys) rs121913503
NM_001289910.1(IDH2):c.359G>T (p.Arg120Met) rs121913503
NM_001289910.1(IDH2):c.360G>C (p.Arg120Ser) rs1057519736
NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys) rs148636776
NM_001754.5(RUNX1):c.588del (p.Val197fs)
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) rs587776710
NM_001987.4(ETV6):c.226G>T (p.Glu76Ter) rs121434637
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_002049.3(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)
NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs)
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)
NM_002049.4(GATA1):c.219A>G (p.Pro73=)
NM_002049.4(GATA1):c.219del (p.Val74fs)
NM_002049.4(GATA1):c.49_50del (p.Gln17fs)
NM_002049.4(GATA1):c.4dup (p.Glu2fs)
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_002520.6(NPM1):c.860_863dupTCTG rs587776806
NM_002520.6(NPM1):c.863_864insCATG (p.Trp288fs) rs1554138188
NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs) rs1554138189
NM_002520.6(NPM1):c.863_864insCGTG (p.Trp288fs) rs1554138188
NM_002520.6(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs) rs1581263026
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC (p.Arg507_Cys508insLeuLeuSerVal)
NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp)
NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn)
NM_002609.4(PDGFRB):c.1615_1616insGAT (p.Leu539_Ala540insArg) rs1060499541
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286
NM_002609.4(PDGFRB):c.1682_1684del (p.Arg561_Tyr562delinsHis)
NM_002609.4(PDGFRB):c.1684T>G (p.Tyr562Asp)
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002609.4(PDGFRB):c.1697_1702del (p.Trp566_Val568delinsLeu) rs1060499543
NM_002609.4(PDGFRB):c.1699A>G (p.Lys567Glu) rs1554108389
NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG (p.Ser573_Ser574insGluLeuIleArgTrpLysValIleGluSerVal)
NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg) rs863224946
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.1998C>G (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.2549A>T (p.Asp850Val) rs1060499540
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
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.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
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.188A>G (p.Tyr63Cys) rs121918459
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.227A>G (p.Glu76Gly) 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.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194
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.721A>G (p.Lys241Glu) rs267606573
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
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.Asn841_Tyr842insGlySer) rs398122514
NM_004260.3(RECQL4):c.1573del (p.Cys525fs) rs386833845
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs)
NM_004364.4(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.4(CEBPA):c.198_201dupCTAC (p.Ile68Leufs*41) rs137852731
NM_004364.4(CEBPA):c.217_218insC (p.Phe73fs) rs137852733
NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54) rs137852732
NM_004364.4(CEBPA):c.68dupC (p.His24Alafs) rs137852728
NM_004364.4(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.4(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter)
NM_004364.5(CEBPA):c.206del (p.Asp69fs)
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter)
NM_004364.5(CEBPA):c.332_339del rs1555742213
NM_004972.3(JAK2):c.1821G>C (p.Lys607Asn) rs121912472
NM_004972.3(JAK2):c.1849G>A (p.Val617Ile) rs77375493
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
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_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005373.2(MPL):c.1069C>T (p.Arg357Ter) rs751975712
NM_005373.2(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.2(MPL):c.127C>T (p.Arg43Ter) rs148434485
NM_005373.2(MPL):c.1422G>A (p.Trp474Ter) rs754859909
NM_005373.2(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.2(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.304C>T (p.Arg102Cys) rs763568293
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.2(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.2(MPL):c.391+5G>C rs752453717
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.769C>T (p.Arg257Cys) rs121913611
NM_005373.3(MPL):c.1025del (p.Pro342fs)
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs)
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter)
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs)
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter)
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)
NM_005373.3(MPL):c.230del (p.Cys77fs)
NM_005373.3(MPL):c.252del (p.Met84fs)
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)
NM_005373.3(MPL):c.308del (p.Leu103fs)
NM_005373.3(MPL):c.455del (p.Ile152fs)
NM_005373.3(MPL):c.603_606del (p.His201fs)
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005373.3(MPL):c.793del (p.Leu265fs)
NM_005417.4(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_005475.2(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln) rs202080221
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) rs137853008
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.1046A>G (p.Tyr349Cys) rs137853863
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.370G>A (p.Gly124Ser) rs137853862
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.415_418dup (p.Asp140delinsGlyTer) rs762890562
NM_016222.4(DDX41):c.719delinsCG (p.Ile240fs)
NM_016592.4(GNAS):c.*587G>C rs137854533
NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) rs797045283
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344
NM_022455.4(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.4(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_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.1671del (p.Leu557fs)
NM_032957.4(RTEL1):c.1207+1G>A rs1555903332
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_054021.1(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.1(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693
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.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.652T>C (p.Cys218Arg)
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_133171.5(ELMO2):c.1065+1G>A rs768410753
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097
NM_199185.3(NPM1):c.782_788delinsCCCTGGCTAGG (p.Trp261fs) rs1561878500
NM_207122.1(EXT2):c.861_1173+5287del
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter)
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr)
NM_207122.2(EXT2):c.1024del (p.Val342fs)
NM_207122.2(EXT2):c.1032del (p.Ile344fs) rs1590570953
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)
NM_207122.2(EXT2):c.1079+1G>C
NM_207122.2(EXT2):c.1079+1G>T
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs)
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter)
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter)
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs)
NM_207122.2(EXT2):c.1179del (p.Trp394fs)
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter)
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) rs1590618771
NM_207122.2(EXT2):c.1195del (p.Tyr399fs)
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter)
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter)
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter)
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter)
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer)
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter)
NM_207122.2(EXT2):c.1627dup (p.Met543fs) rs1590647371
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
NM_207122.2(EXT2):c.203_258del (p.Val68fs)
NM_207122.2(EXT2):c.211del (p.Leu71fs)
NM_207122.2(EXT2):c.257_263del (p.Arg86fs)
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter)
NM_207122.2(EXT2):c.314del (p.Lys105fs)
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter)
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) rs1565196489
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter)
NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter)
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.459_462del (p.Val154fs)
NM_207122.2(EXT2):c.482del (p.Asn161fs)
NM_207122.2(EXT2):c.536+1G>C
NM_207122.2(EXT2):c.590del (p.Pro197fs) rs1565197245
NM_207122.2(EXT2):c.602_603del (p.Thr201fs)
NM_207122.2(EXT2):c.626+2T>G
NM_207122.2(EXT2):c.626+2_626+5del
NM_207122.2(EXT2):c.64_68del (p.His22fs)
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter)
NM_207122.2(EXT2):c.743+1_743+2dup rs1590555709
NM_207122.2(EXT2):c.744-1G>A
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter)
NM_207122.2(EXT2):c.782_783del (p.Leu261fs)
NM_207122.2(EXT2):c.783_784del (p.His262fs)
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter)
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)
NM_207122.2(EXT2):c.913del (p.Val305fs)
NM_207122.2(EXT2):c.940-2A>G
NM_207122.2(EXT2):c.952_964del (p.Cys318fs)
NM_207122.2(EXT2):c.956_957del (p.Val319fs) rs1590570665
NM_207122.2(EXT2):c.960del (p.Leu321fs)
NR_040073.1(MIR181A1HG):n.363+1456C>T rs10800597
NR_040073.1(MIR181A1HG):n.363+1862C>A rs60639710
NR_040073.1(MIR181A1HG):n.363+26A>G rs10800598
NR_040073.1(MIR181A1HG):n.364-18748G>A rs12406470
PDGFB, PDGFB/COL1A1 FUSION
Single allele
THPO, 1-BP DEL, 3252G
THPO, 516G-T
THPO, IVS3, G-C, +1
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.