ClinVar Miner

List of variants studied for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2715
Download table as spreadsheet
HGVS dbSNP
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
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
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
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_000005.9:g.(?_149503793)_(149516630_?)dup
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.(?_118819446)_(119123285_?)dup
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.(?_118110065)_(118111066_?)dup
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_000011.10:g.44095641G>T
NC_000011.9:g.(?_44146456_44156975del
NC_000014.8:g.96163103_96857129dup
NC_000019.9:g.(?_33532300)_(33793320_?)dup
NC_000019.9:g.(?_33792234)_(33793330_?)dup
NC_012920.1:m.14372C>A rs1556424431
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.1312+3A>G rs863225311
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.245T>C (p.Phe82Ser) rs1179254201
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437
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.319T>G (p.Ser107Ala) rs1485866385
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) rs764706774
NM_000038.6(APC):c.3692_3693insA (p.His1232fs)
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
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.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000059.3(BRCA2):c.8611G>C (p.Glu2871Gln) rs587782860
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000127.2(EXT1):c.*146G>C rs886062634
NM_000127.2(EXT1):c.*151T>C rs751063786
NM_000127.2(EXT1):c.*82C>G rs886062635
NM_000127.2(EXT1):c.-113G>C rs533303304
NM_000127.2(EXT1):c.-129A>G rs886062637
NM_000127.2(EXT1):c.-139A>G rs886062638
NM_000127.2(EXT1):c.-266C>T rs76805972
NM_000127.2(EXT1):c.-324C>G rs144282710
NM_000127.2(EXT1):c.-358T>C rs886062639
NM_000127.2(EXT1):c.-500T>G rs372210548
NM_000127.2(EXT1):c.-509C>G rs78824154
NM_000127.2(EXT1):c.-536G>A rs780662536
NM_000127.2(EXT1):c.-57G>C rs886062636
NM_000127.2(EXT1):c.-612G>A rs886062640
NM_000127.2(EXT1):c.-635C>T rs188740055
NM_000127.2(EXT1):c.-642G>A rs534171475
NM_000127.2(EXT1):c.-655C>A rs886062642
NM_000127.2(EXT1):c.-667C>G rs886062643
NM_000127.2(EXT1):c.-678C>T rs886062644
NM_000127.2(EXT1):c.-722T>C rs192302720
NM_000127.2(EXT1):c.-731G>A rs886062645
NM_000127.2(EXT1):c.1000T>C (p.Cys334Arg) rs1587004341
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.1021A>G (p.Arg341Gly) rs1554580149
NM_000127.2(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
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.1063T>C (p.Cys355Arg) rs1587003655
NM_000127.2(EXT1):c.1065C>A (p.Cys355Ter) rs11546829
NM_000127.2(EXT1):c.1065C>T (p.Cys355=) rs11546829
NM_000127.2(EXT1):c.1066G>A (p.Val356Ile) rs61753260
NM_000127.2(EXT1):c.1135G>A (p.Val379Ile) rs371233961
NM_000127.2(EXT1):c.114A>G (p.Glu38=) rs17506447
NM_000127.2(EXT1):c.117A>G (p.Glu39=) rs78429222
NM_000127.2(EXT1):c.122G>A (p.Ser41Asn) rs199862937
NM_000127.2(EXT1):c.1236G>A (p.Trp412Ter) rs1587001428
NM_000127.2(EXT1):c.1239G>T (p.Glu413Asp) rs756701753
NM_000127.2(EXT1):c.1279C>G (p.Leu427Val) rs773539946
NM_000127.2(EXT1):c.1315_1337dup (p.Lys447_His448insHisValThrValTer) rs1563571296
NM_000127.2(EXT1):c.1316C>G (p.Ser439Ter) rs1563571318
NM_000127.2(EXT1):c.1319G>A (p.Arg440His) rs144550328
NM_000127.2(EXT1):c.1359C>T (p.Phe453=) rs148922894
NM_000127.2(EXT1):c.1360G>A (p.Val454Ile) rs201504622
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.1431C>T (p.Pro477=) rs17439693
NM_000127.2(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.2(EXT1):c.1457C>T (p.Ala486Val) rs188859975
NM_000127.2(EXT1):c.1463C>A (p.Thr488Asn) rs759514310
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.1536+7G>A rs200128437
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.1761G>A (p.Glu587=) rs7837891
NM_000127.2(EXT1):c.1779C>T (p.Pro593=) rs143881630
NM_000127.2(EXT1):c.1782G>A (p.Ala594=) rs61753261
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.1884-1G>T rs1131691623
NM_000127.2(EXT1):c.1911C>A (p.Tyr637Ter) rs1586989220
NM_000127.2(EXT1):c.1959G>A (p.Glu653=) rs142710059
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.210A>G (p.Gln70=) rs367543871
NM_000127.2(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000127.2(EXT1):c.214G>A (p.Glu72Lys) rs150818931
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.572T>C (p.Leu191Ser) rs1563659467
NM_000127.2(EXT1):c.584T>G (p.Leu195Ter) rs1586279621
NM_000127.2(EXT1):c.591C>T (p.Ser197=) rs770795716
NM_000127.2(EXT1):c.598_669del (p.Trp200_Thr223del) rs1554601502
NM_000127.2(EXT1):c.609C>T (p.Tyr203=) rs886042484
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.839G>C (p.Arg280Thr) rs1586279403
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.874G>T (p.Val292Phe) rs1586279359
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.962+8_962+11del rs138812713
NM_000127.2(EXT1):c.963-2A>G rs1554580162
NM_000127.2(EXT1):c.988_989insTC (p.Asn330fs) rs1563575697
NM_000127.2(EXT1):c.992C>A (p.Ala331Asp) rs1554580153
NM_000127.3(EXT1):c.*182A>C
NM_000127.3(EXT1):c.-16G>A
NM_000127.3(EXT1):c.-717G>C
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg)
NM_000127.3(EXT1):c.1014T>G (p.Arg338=)
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser)
NM_000127.3(EXT1):c.1018C>T rs119103290
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile)
NM_000127.3(EXT1):c.1056G>T (p.Gln352His)
NM_000127.3(EXT1):c.1057-12dup
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr)
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter)
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp) rs142122090
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.1161A>G (p.Leu387=) rs200256697
NM_000127.3(EXT1):c.1165-3C>G
NM_000127.3(EXT1):c.1165-6T>G
NM_000127.3(EXT1):c.1167del (p.Pro390fs)
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter)
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
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.123C>T (p.Ser41=) rs1186563531
NM_000127.3(EXT1):c.124_962+1815del
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
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.1338C>T (p.Asn446=)
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
NM_000127.3(EXT1):c.1350del (p.Gly451fs)
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
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.1417+6T>C
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.1450A>T (p.Ile484Phe)
NM_000127.3(EXT1):c.1458G>A (p.Ala486=)
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)
NM_000127.3(EXT1):c.147C>T (p.Pro49=)
NM_000127.3(EXT1):c.1503C>G (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.1503C>T (p.Leu501=)
NM_000127.3(EXT1):c.1509T>A (p.Ala503=)
NM_000127.3(EXT1):c.1522del (p.Gln508fs)
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter)
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)
NM_000127.3(EXT1):c.1567del (p.Leu523fs)
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile)
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.1659C>T (p.Tyr553=)
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer)
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala)
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
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.1743G>A (p.Val581=) rs375284779
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) rs1586990398
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
NM_000127.3(EXT1):c.1758T>C (p.Pro586=)
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
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.1781C>G (p.Ala594Gly)
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.1813C>T (p.Arg605Trp)
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter)
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)
NM_000127.3(EXT1):c.1839G>A (p.Thr613=) rs765677175
NM_000127.3(EXT1):c.1845del (p.Tyr616fs)
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
NM_000127.3(EXT1):c.1872T>C (p.Ala624=)
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
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.1885TAT[1] (p.Tyr630del)
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs)
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
NM_000127.3(EXT1):c.1899A>G (p.Leu633=) rs368191286
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
NM_000127.3(EXT1):c.1906del (p.His636fs)
NM_000127.3(EXT1):c.1920C>T (p.Ala640=)
NM_000127.3(EXT1):c.1925del (p.Leu642fs)
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
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.197T>C (p.Val66Ala)
NM_000127.3(EXT1):c.1998dup (p.Leu667fs)
NM_000127.3(EXT1):c.2010C>T (p.Ile670=)
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.2055+5G>A
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682
NM_000127.3(EXT1):c.2077del (p.Ala693fs)
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter)
NM_000127.3(EXT1):c.2100G>A (p.Gln700=)
NM_000127.3(EXT1):c.2115del (p.Met705fs)
NM_000127.3(EXT1):c.2119dup (p.Thr707fs)
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000127.3(EXT1):c.2156A>C (p.His719Pro)
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
NM_000127.3(EXT1):c.2172C>T (p.Leu724=)
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)
NM_000127.3(EXT1):c.2199C>T (p.Val733=)
NM_000127.3(EXT1):c.2205T>C (p.Ile735=)
NM_000127.3(EXT1):c.247del (p.Arg83fs)
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
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.318C>A (p.Phe106Leu)
NM_000127.3(EXT1):c.330_331insTCTACGT (p.Lys111delinsSerThrTer)
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter)
NM_000127.3(EXT1):c.360dup (p.Gln121fs)
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter)
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer)
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
NM_000127.3(EXT1):c.444del (p.Ser149fs)
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)
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.499T>C (p.Ser167Pro)
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter)
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser)
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.543C>T (p.Leu181=)
NM_000127.3(EXT1):c.557_558del (p.Asn186fs)
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys)
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr)
NM_000127.3(EXT1):c.568_570del (p.His190del)
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn)
NM_000127.3(EXT1):c.593G>T (p.Gly198Val)
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala)
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys)
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe)
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>C (p.Tyr22=)
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.692_694del (p.Asp231del)
NM_000127.3(EXT1):c.698del (p.Ser233fs)
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer)
NM_000127.3(EXT1):c.741G>A (p.Glu247=) rs148473091
NM_000127.3(EXT1):c.747dup (p.Phe250fs)
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu)
NM_000127.3(EXT1):c.768C>T (p.Ile256=) rs566692634
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
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.873C>G (p.Asp291Glu)
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter)
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)
NM_000127.3(EXT1):c.962+7G>C
NM_000127.3(EXT1):c.963-7dup
NM_000127.3(EXT1):c.978A>G (p.Glu326=)
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)
NM_000127.3(EXT1):c.99C>T (p.Ser33=) rs147654656
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000215.3(JAK3):c.1503G>C (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1503G>T (p.Gln501His) rs201283129
NM_000215.3(JAK3):c.1715C>T (p.Ala572Val) rs121913504
NM_000215.3(JAK3):c.1970G>A (p.Arg657Gln) rs758959409
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.260T>C (p.Ile87Thr) rs1057519770
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000222.2(KIT):c.1553C>T (p.Pro518Leu) rs569408054
NM_000222.2(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.2(KIT):c.200C>G (p.Thr67Ser) rs144933028
NM_000222.2(KIT):c.2057G>A (p.Arg686His) rs143772138
NM_000222.2(KIT):c.2104C>G (p.Leu702Val) rs768847037
NM_000222.2(KIT):c.2294A>G (p.Asp765Gly) rs1060502545
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2446_2447delinsAT (p.Asp816Ile) rs1057519709
NM_000222.2(KIT):c.2836C>T (p.Arg946Ter) rs139000082
NM_000222.2(KIT):c.2863G>T (p.Val955Leu) rs1060502568
NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) rs773828910
NM_000222.2(KIT):c.2887A>G (p.Thr963Ala) rs773709702
NM_000222.2(KIT):c.2900C>G (p.Ser967Cys) rs1232060384
NM_000222.2(KIT):c.302A>G (p.His101Arg) rs1274601103
NM_000222.3(KIT):c.1621A>C rs3822214
NM_000222.3(KIT):c.2447A>T rs121913507
NM_000222.3(KIT):c.2466T>A rs121913514
NM_000222.3(KIT):c.2466T>G rs121913514
NM_000244.3(MEN1):c.1846T>A (p.Ter616Arg) rs1565635212
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_000267.3(NF1):c.1642-8A>G rs267606602
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
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.2495A>G (p.Asp832Gly) rs1060500283
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916
NM_000267.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_000267.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517
NM_000267.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724
NM_000267.3(NF1):c.3811A>G (p.Met1271Val) rs746583007
NM_000267.3(NF1):c.3870+1G>T rs1131691075
NM_000267.3(NF1):c.4138A>T (p.Ser1380Cys) rs1060500310
NM_000267.3(NF1):c.4331A>G (p.Asn1444Ser) rs786202492
NM_000267.3(NF1):c.4346G>A (p.Ser1449Asn) rs876660093
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.4703C>T (p.Thr1568Met) rs185660700
NM_000267.3(NF1):c.4773G>A (p.Arg1591=) rs1555533268
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5666C>G (p.Ser1889Cys) rs751904277
NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) rs786203896
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.575G>A (p.Arg192Gln) rs587781670
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.7291C>T (p.Arg2431Cys) rs377662483
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) rs748027595
NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) rs149055633
NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) rs199474793
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.8159C>T (p.Thr2720Met) rs144178015
NM_000267.3(NF1):c.845A>G (p.Gln282Arg) rs779034900
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000321.2(RB1):c.269G>T (p.Gly90Val) rs554727080
NM_000321.2(RB1):c.276T>G (p.Ile92Met) rs1555282772
NM_000321.2(RB1):c.752G>A (p.Arg251Gln) rs772678500
NM_000321.2(RB1):c.850A>G (p.Asn284Asp) rs761609284
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1981C>T rs137853294
NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) rs397514840
NM_000368.4(TSC1):c.1355G>C (p.Gly452Ala) rs371093730
NM_000368.4(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733
NM_000368.4(TSC1):c.359T>C (p.Leu120Pro) rs1554820262
NM_000388.4(CASR):c.*1011T>A
NM_000388.4(CASR):c.*1015A>G rs9740
NM_000388.4(CASR):c.*103A>C rs199899073
NM_000388.4(CASR):c.*1093C>T rs1802757
NM_000388.4(CASR):c.*1169C>T rs200652347
NM_000388.4(CASR):c.*1193C>T rs886057835
NM_000388.4(CASR):c.*1197C>G rs886057836
NM_000388.4(CASR):c.*1198T>C rs10190
NM_000388.4(CASR):c.*1201C>T rs886057837
NM_000388.4(CASR):c.*1235A>G rs34042920
NM_000388.4(CASR):c.*1298A>G
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*251G>C
NM_000388.4(CASR):c.*574C>G rs6438718
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.*625G>A rs886057833
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.*87C>T rs202045621
NM_000388.4(CASR):c.*923T>C rs201230484
NM_000388.4(CASR):c.-10C>T rs753659949
NM_000388.4(CASR):c.-111C>A rs201098532
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.-137C>T
NM_000388.4(CASR):c.-154T>A rs186365367
NM_000388.4(CASR):c.-378del rs537119483
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1733-9A>G rs190731787
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.4(CASR):c.183C>T (p.Ile61=)
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724
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.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) rs869320729
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn)
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) rs104893709
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016
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.573G>A (p.Glu191=) rs141631116
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181
NM_000401.3(EXT2):c.*101G>C rs117755165
NM_000401.3(EXT2):c.*129C>G rs141864253
NM_000401.3(EXT2):c.*139C>G rs191451519
NM_000401.3(EXT2):c.*368C>T rs886048279
NM_000401.3(EXT2):c.*381T>C rs886048280
NM_000401.3(EXT2):c.*3C>T rs542907948
NM_000401.3(EXT2):c.*472C>T rs74424177
NM_000401.3(EXT2):c.*56G>A rs77554103
NM_000401.3(EXT2):c.*646C>T rs189528648
NM_000401.3(EXT2):c.*731A>G rs886048281
NM_000401.3(EXT2):c.*795C>A rs76505631
NM_000401.3(EXT2):c.*802A>G rs531942530
NM_000401.3(EXT2):c.*93G>A rs886048278
NM_000401.3(EXT2):c.*945G>A rs886048282
NM_000401.3(EXT2):c.1005_1006dup (p.His336fs) rs886041199
NM_000401.3(EXT2):c.1017C>T (p.Phe339=) rs35436405
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.1064G>A (p.Arg355His) rs149727518
NM_000401.3(EXT2):c.107C>T (p.Ala36Val) rs201185639
NM_000401.3(EXT2):c.1098T>C (p.Asp366=) rs61733300
NM_000401.3(EXT2):c.110C>T (p.Ser37Leu) rs527624522
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
NM_000401.3(EXT2):c.1118T>A (p.Val373Asp) rs371996957
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000401.3(EXT2):c.1122G>A (p.Pro374=) rs757323768
NM_000401.3(EXT2):c.1173G>A (p.Trp391Ter) rs1450980907
NM_000401.3(EXT2):c.1178+1G>A rs1369420640
NM_000401.3(EXT2):c.1179-18T>A rs11037882
NM_000401.3(EXT2):c.1186G>A (p.Val396Met) rs138943091
NM_000401.3(EXT2):c.1208T>C (p.Met403Thr) rs199711832
NM_000401.3(EXT2):c.1209G>T (p.Met403Ile) rs34084767
NM_000401.3(EXT2):c.1222A>G (p.Ser408Gly) rs369029338
NM_000401.3(EXT2):c.1231C>T (p.Gln411Ter) rs1555006433
NM_000401.3(EXT2):c.1272+2T>A rs1565205890
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.127C>A (p.Arg43=) rs4755228
NM_000401.3(EXT2):c.1286G>A (p.Trp429Ter) rs750542485
NM_000401.3(EXT2):c.1307T>C (p.Ile436Thr) rs530523884
NM_000401.3(EXT2):c.130G>A (p.Gly44Ser) rs886048274
NM_000401.3(EXT2):c.1390G>A (p.Asp464Asn) rs886048276
NM_000401.3(EXT2):c.1404+1G>A rs864309637
NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) rs772690312
NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) rs147753803
NM_000401.3(EXT2):c.1663C>T (p.Arg555Cys) rs145507609
NM_000401.3(EXT2):c.166C>T (p.Arg56Ter) rs754533434
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000401.3(EXT2):c.1740C>T (p.Asp580=) rs75987184
NM_000401.3(EXT2):c.1744C>T (p.Leu582=) rs142565472
NM_000401.3(EXT2):c.1839G>A (p.Trp613Ter) rs1564986609
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) rs16937864
NM_000401.3(EXT2):c.1905+11G>A rs372517964
NM_000401.3(EXT2):c.1905+9del rs372901342
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.2034+11C>G rs764143899
NM_000401.3(EXT2):c.2035-41T>C rs3740878
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000401.3(EXT2):c.304G>A (p.Val102Ile) rs200809171
NM_000401.3(EXT2):c.343del (p.Asp115fs) rs1555002457
NM_000401.3(EXT2):c.344A>C (p.Asp115Ala) rs534539796
NM_000401.3(EXT2):c.344dup (p.Asp115fs) rs1555002460
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.363C>T (p.His121=) rs35455466
NM_000401.3(EXT2):c.382C>T (p.Arg128Cys) rs376292686
NM_000401.3(EXT2):c.383G>A (p.Arg128His) rs143703574
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.618G>C (p.Ala206=) rs148121594
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000401.3(EXT2):c.643C>T (p.Arg215Ter) rs886039358
NM_000401.3(EXT2):c.652_657del (p.Asn218_His219del) rs761364688
NM_000401.3(EXT2):c.670A>G (p.Met224Val) rs1324170921
NM_000401.3(EXT2):c.725+1G>A rs1057521132
NM_000401.3(EXT2):c.726-2A>G rs1064793854
NM_000401.3(EXT2):c.74G>T (p.Cys25Phe) rs369437823
NM_000401.3(EXT2):c.755C>T (p.Thr252Met) rs202208526
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.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.842+1G>A rs886039567
NM_000401.3(EXT2):c.843-10T>G rs200943294
NM_000401.3(EXT2):c.843-2A>C rs864309638
NM_000401.3(EXT2):c.871C>T (p.Gln291Ter) rs267606786
NM_000401.3(EXT2):c.904C>T (p.Leu302=) rs773486418
NM_000401.3(EXT2):c.948C>T (p.Leu316=) rs749093709
NM_000401.3(EXT2):c.959C>A (p.Thr320Asn) rs886048275
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met)
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) rs367543285
NM_000435.3(NOTCH3):c.5114+11T>G
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000459.4(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000460.4(THPO):c.*108C>T
NM_000460.4(THPO):c.*18G>A rs180680111
NM_000460.4(THPO):c.*191T>G
NM_000460.4(THPO):c.*27A>G
NM_000460.4(THPO):c.*35G>A rs6141
NM_000460.4(THPO):c.*366G>C
NM_000460.4(THPO):c.*404G>A rs573846929
NM_000460.4(THPO):c.*480G>A
NM_000460.4(THPO):c.*482A>T rs3804618
NM_000460.4(THPO):c.*500A>G rs886058217
NM_000460.4(THPO):c.*59G>A rs78565404
NM_000460.4(THPO):c.-123C>T rs535707667
NM_000460.4(THPO):c.-136T>C rs956732
NM_000460.4(THPO):c.-215T>A rs886058219
NM_000460.4(THPO):c.-47del
NM_000460.4(THPO):c.-56G>A rs187556243
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala) rs35794435
NM_000460.4(THPO):c.13+2T>C
NM_000460.4(THPO):c.13G>A (p.Glu5Lys)
NM_000460.4(THPO):c.14-11C>T
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378
NM_000460.4(THPO):c.229-17_229-14dup rs55827759
NM_000460.4(THPO):c.24C>T (p.Leu8=) rs373542698
NM_000460.4(THPO):c.303A>G (p.Gln101=) rs775232517
NM_000460.4(THPO):c.310C>A (p.Pro104Thr)
NM_000460.4(THPO):c.356G>A (p.Arg119His) rs143216798
NM_000460.4(THPO):c.517G>A (p.Val173Ile) rs780992873
NM_000460.4(THPO):c.518T>C (p.Val173Ala) rs768776540
NM_000460.4(THPO):c.579C>T (p.Asn193=) rs202166253
NM_000460.4(THPO):c.671G>A (p.Gly224Glu) rs886058218
NM_000460.4(THPO):c.740T>C (p.Leu247Pro)
NM_000460.4(THPO):c.791_794del (p.Pro264fs) rs760659440
NM_000460.4(THPO):c.796C>T (p.Arg266Cys)
NM_000460.4(THPO):c.808G>A (p.Gly270Arg)
NM_000460.4(THPO):c.852G>A (p.Leu284=)
NM_000460.4(THPO):c.889A>G (p.Thr297Ala) rs530613857
NM_000460.4(THPO):c.963C>T (p.His321=)
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_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000546.5(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.5(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.5(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.5(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.5(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.5(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>C (p.His193Pro) rs786201838
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.5(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.5(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.5(TP53):c.760A>G (p.Ile254Val) rs746601313
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.5(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.5(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.422G>T rs587781288
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.6(TP53):c.583A>T rs942158624
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666
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.817C>T (p.Arg273Cys) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) rs1060500961
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000760.4(CSF3R):c.1843A>G (p.Thr615Ala) rs1057519776
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter) rs771063992
NM_001025203.1(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427
NM_001025203.1(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_001025203.1(U2AF1):c.470A>C (p.Gln157Pro) rs371246226
NM_001025203.1(U2AF1):c.470A>G (p.Gln157Arg) rs371246226
NM_001042492.2(NF1):c.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) rs1597712665
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398
NM_001083602.2(PTCH1):c.-241del rs1554710890
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del) rs864309497
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001127511.3(APC):c.-204A>G rs554351451
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660
NM_001128849.2(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) rs121918546
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001145661.2(GATA2):c.1232C>T (p.Ala411Val) rs374457534
NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) rs201155045
NM_001145661.2(GATA2):c.1348G>A (p.Gly450Arg) rs370164300
NM_001145661.2(GATA2):c.182C>T (p.Ala61Val) rs375349195
NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg) rs753645971
NM_001145661.2(GATA2):c.829A>G (p.Ser277Gly) rs141800945
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala)
NM_001276697.2(TP53):c.-3_4dup (p.Ala2fs) rs863223301
NM_001276697.2(TP53):c.-57T>A rs1057519978
NM_001276697.2(TP53):c.-57T>C rs1057519978
NM_001276697.2(TP53):c.-57T>G rs1057519978
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.-102C>T rs1555742243
NM_001285829.1(CEBPA):c.-106C>G rs878854700
NM_001285829.1(CEBPA):c.-107A>T rs28931590
NM_001285829.1(CEBPA):c.-140T>G rs1555742258
NM_001285829.1(CEBPA):c.-147_-144dup rs587776849
NM_001285829.1(CEBPA):c.-148G>A rs1432277634
NM_001285829.1(CEBPA):c.-171G>A rs1452063514
NM_001285829.1(CEBPA):c.-172_-168del rs1060502121
NM_001285829.1(CEBPA):c.-174A>G rs558462037
NM_001285829.1(CEBPA):c.-179C>T rs1060502119
NM_001285829.1(CEBPA):c.-180A>T rs1060502120
NM_001285829.1(CEBPA):c.-184C>T rs878854699
NM_001285829.1(CEBPA):c.-203T>C rs936973108
NM_001285829.1(CEBPA):c.-210G>T rs121912791
NM_001285829.1(CEBPA):c.-217del rs137852730
NM_001285829.1(CEBPA):c.-220T>C rs1387400759
NM_001285829.1(CEBPA):c.-226C>T rs1060504474
NM_001285829.1(CEBPA):c.-229C>A rs1060504476
NM_001285829.1(CEBPA):c.-241C>T rs1318381484
NM_001285829.1(CEBPA):c.-242C>T rs1060502125
NM_001285829.1(CEBPA):c.-243_-237del rs587776848
NM_001285829.1(CEBPA):c.-244C>A rs1600024309
NM_001285829.1(CEBPA):c.-247G>C rs1323312485
NM_001285829.1(CEBPA):c.-251G>A rs746522150
NM_001285829.1(CEBPA):c.-258C>T rs996435066
NM_001285829.1(CEBPA):c.-28C>T rs1207839159
NM_001285829.1(CEBPA):c.-290C>A rs1308550194
NM_001285829.1(CEBPA):c.-290del rs137852728
NM_001285829.1(CEBPA):c.-295C>A rs867113214
NM_001285829.1(CEBPA):c.-298G>C rs1060502123
NM_001285829.1(CEBPA):c.-306C>T rs1600024559
NM_001285829.1(CEBPA):c.-307C>A rs1245499278
NM_001285829.1(CEBPA):c.-317C>A rs1007915253
NM_001285829.1(CEBPA):c.-317C>G rs1007915253
NM_001285829.1(CEBPA):c.-318C>G rs1379627026
NM_001285829.1(CEBPA):c.-319C>G rs1015459376
NM_001285829.1(CEBPA):c.-319C>T rs1015459376
NM_001285829.1(CEBPA):c.-321C>G rs961496947
NM_001285829.1(CEBPA):c.-327C>T rs1555742325
NM_001285829.1(CEBPA):c.-330G>A rs1555742327
NM_001285829.1(CEBPA):c.-33C>T rs1027991203
NM_001285829.1(CEBPA):c.-348G>T rs1415169403
NM_001285829.1(CEBPA):c.-38del rs1600023511
NM_001285829.1(CEBPA):c.-45_-43dup rs1568420047
NM_001285829.1(CEBPA):c.-54G>A rs1455462308
NM_001285829.1(CEBPA):c.-57G>T rs1600023637
NM_001285829.1(CEBPA):c.-65C>T rs1490895935
NM_001285829.1(CEBPA):c.-70C>A rs919975422
NM_001285829.1(CEBPA):c.-75G>A rs1356845856
NM_001285829.1(CEBPA):c.-81_-80delinsAA rs878854701
NM_001285829.1(CEBPA):c.201_211delinsCTCGCACC (p.Pro68_Ser71delinsSerHisPro) rs1568419793
NM_001286780.2(ANTXR2):c.-80+121A>T rs886059665
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.358A>G (p.Arg120Gly) rs1057519906
NM_001289910.1(IDH2):c.358A>T (p.Arg120Trp) rs1057519906
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_001290003.1(THPO):c.98C>T (p.Pro33Leu) rs1208732776
NM_001291424.1(SH2B3):c.577G>A (p.Glu193Lys) rs148636776
NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys) rs72650673
NM_001370259.2(MEN1):c.*412G>A rs972128957
NM_001370259.2(MEN1):c.*470A>G rs778272737
NM_001374258.1(BRAF):c.1862A>G (p.Asn621Ser) rs121913370
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro)
NM_001754.4(RUNX1):c.1269C>T (p.Arg423=) rs544247912
NM_001754.4(RUNX1):c.182C>T (p.Pro61Leu) rs769213771
NM_001754.4(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.4(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.4(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg) rs749004431
NM_001754.4(RUNX1):c.787C>T (p.Pro263Ser) rs370315332
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs)
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro)
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val)
NM_001754.5(RUNX1):c.588del (p.Val197fs)
NM_001754.5(RUNX1):c.749G>A rs771614642
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001982.3(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285
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_002070.4(GNAI2):c.879G>A (p.Gly293=)
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) rs1057519753
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)
NM_002430.3(MN1):c.772_776del (p.His258fs) rs1568986076
NM_002430.3(MN1):c.785del (p.Gly262fs) rs1568986066
NM_002439.5(MSH3):c.178G>C (p.Ala60Pro) rs2001675
NM_002451.3(MTAP):c.-117T>C rs545625466
NM_002451.4(MTAP):c.*102A>G rs755040797
NM_002451.4(MTAP):c.*1038A>G rs180861815
NM_002451.4(MTAP):c.*1065A>G rs187215052
NM_002451.4(MTAP):c.*1093G>T
NM_002451.4(MTAP):c.*1105del rs200216058
NM_002451.4(MTAP):c.*1140A>G rs886063785
NM_002451.4(MTAP):c.*1181A>G rs182505150
NM_002451.4(MTAP):c.*1197C>G rs886063786
NM_002451.4(MTAP):c.*1225G>A rs556119629
NM_002451.4(MTAP):c.*1341C>T rs111408881
NM_002451.4(MTAP):c.*1384G>C rs755911467
NM_002451.4(MTAP):c.*1399C>A
NM_002451.4(MTAP):c.*1453C>T
NM_002451.4(MTAP):c.*1482A>G rs560361151
NM_002451.4(MTAP):c.*1558G>C
NM_002451.4(MTAP):c.*15C>A
NM_002451.4(MTAP):c.*1608del rs886063787
NM_002451.4(MTAP):c.*1621_*1622del rs11358276
NM_002451.4(MTAP):c.*1622del rs11358276
NM_002451.4(MTAP):c.*1643G>T rs79546636
NM_002451.4(MTAP):c.*1668T>C
NM_002451.4(MTAP):c.*1729G>A rs182527165
NM_002451.4(MTAP):c.*1760A>G rs886063788
NM_002451.4(MTAP):c.*17A>G rs553057304
NM_002451.4(MTAP):c.*1831T>A rs886063789
NM_002451.4(MTAP):c.*1836C>G
NM_002451.4(MTAP):c.*1936C>T rs117552951
NM_002451.4(MTAP):c.*2033G>A
NM_002451.4(MTAP):c.*2085G>A rs10117507
NM_002451.4(MTAP):c.*2111A>G
NM_002451.4(MTAP):c.*2171G>A rs886063790
NM_002451.4(MTAP):c.*2183T>C
NM_002451.4(MTAP):c.*2188C>T
NM_002451.4(MTAP):c.*2238C>T rs150727017
NM_002451.4(MTAP):c.*2255A>G rs79020697
NM_002451.4(MTAP):c.*2269A>T
NM_002451.4(MTAP):c.*2279T>G rs529226542
NM_002451.4(MTAP):c.*2286A>G
NM_002451.4(MTAP):c.*2333C>G
NM_002451.4(MTAP):c.*2348dup rs397972510
NM_002451.4(MTAP):c.*2365C>T rs10117550
NM_002451.4(MTAP):c.*2383C>T rs886063791
NM_002451.4(MTAP):c.*2481T>C
NM_002451.4(MTAP):c.*2522A>G rs3802394
NM_002451.4(MTAP):c.*2539A>G rs10123713
NM_002451.4(MTAP):c.*254A>T
NM_002451.4(MTAP):c.*258A>C rs15735
NM_002451.4(MTAP):c.*258del rs886063782
NM_002451.4(MTAP):c.*259C>A rs78195856
NM_002451.4(MTAP):c.*2606G>C rs886063792
NM_002451.4(MTAP):c.*2638G>A rs556394357
NM_002451.4(MTAP):c.*2651G>A rs569725867
NM_002451.4(MTAP):c.*2660C>A
NM_002451.4(MTAP):c.*2693G>A
NM_002451.4(MTAP):c.*2740G>A
NM_002451.4(MTAP):c.*2837T>A rs566068002
NM_002451.4(MTAP):c.*2873C>T rs75664572
NM_002451.4(MTAP):c.*2912G>C rs775831366
NM_002451.4(MTAP):c.*2937C>G
NM_002451.4(MTAP):c.*2968T>C rs554780978
NM_002451.4(MTAP):c.*303G>A
NM_002451.4(MTAP):c.*3052C>T rs182636316
NM_002451.4(MTAP):c.*3057T>A
NM_002451.4(MTAP):c.*3060A>G
NM_002451.4(MTAP):c.*3072G>A rs768885564
NM_002451.4(MTAP):c.*3093T>C rs4977735
NM_002451.4(MTAP):c.*3144G>A rs148910202
NM_002451.4(MTAP):c.*3160T>C
NM_002451.4(MTAP):c.*3206C>T rs886063793
NM_002451.4(MTAP):c.*3276A>G
NM_002451.4(MTAP):c.*328T>C rs150414950
NM_002451.4(MTAP):c.*3307G>T rs41270139
NM_002451.4(MTAP):c.*3361C>T rs138870323
NM_002451.4(MTAP):c.*3389T>C rs765432220
NM_002451.4(MTAP):c.*3501T>C
NM_002451.4(MTAP):c.*3656A>G
NM_002451.4(MTAP):c.*3692G>A
NM_002451.4(MTAP):c.*3766C>T rs149649469
NM_002451.4(MTAP):c.*3774A>G
NM_002451.4(MTAP):c.*378T>C rs886063783
NM_002451.4(MTAP):c.*3829T>C rs6475592
NM_002451.4(MTAP):c.*3851C>G rs76751525
NM_002451.4(MTAP):c.*3862C>T rs560167088
NM_002451.4(MTAP):c.*3916C>T rs80226037
NM_002451.4(MTAP):c.*393G>C rs78389853
NM_002451.4(MTAP):c.*3943G>A rs886063794
NM_002451.4(MTAP):c.*3946A>C rs10965168
NM_002451.4(MTAP):c.*395A>G
NM_002451.4(MTAP):c.*536G>A rs1134870
NM_002451.4(MTAP):c.*606A>G rs566061531
NM_002451.4(MTAP):c.*657T>C rs146095448
NM_002451.4(MTAP):c.*707A>G rs138936486
NM_002451.4(MTAP):c.*730A>G
NM_002451.4(MTAP):c.*775dup rs58147941
NM_002451.4(MTAP):c.*795A>T
NM_002451.4(MTAP):c.*797C>T rs58555715
NM_002451.4(MTAP):c.*804T>C rs142144597
NM_002451.4(MTAP):c.*884T>A rs1134871
NM_002451.4(MTAP):c.*895G>A rs41270137
NM_002451.4(MTAP):c.*912A>G
NM_002451.4(MTAP):c.-108_-103del rs886063780
NM_002451.4(MTAP):c.-52G>C
NM_002451.4(MTAP):c.-5C>G rs375344882
NM_002451.4(MTAP):c.111A>G (p.Pro37=)
NM_002451.4(MTAP):c.119A>G (p.Lys40Arg)
NM_002451.4(MTAP):c.121-10T>C rs201864201
NM_002451.4(MTAP):c.136A>C (p.Ile46Leu)
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954
NM_002451.4(MTAP):c.179+12T>A rs369294437
NM_002451.4(MTAP):c.187A>G (p.Arg63Gly) rs886063781
NM_002451.4(MTAP):c.224A>G (p.Gln75Arg)
NM_002451.4(MTAP):c.300G>A (p.Glu100=) rs762121645
NM_002451.4(MTAP):c.315C>T (p.Gly105=) rs147319145
NM_002451.4(MTAP):c.39A>C (p.Gly13=) rs139020435
NM_002451.4(MTAP):c.561C>T (p.Arg187=) rs10965163
NM_002451.4(MTAP):c.566G>T (p.Trp189Leu) rs184520335
NM_002451.4(MTAP):c.572C>T (p.Ala191Val) rs200708704
NM_002451.4(MTAP):c.603G>A (p.Glu201=) rs189392570
NM_002451.4(MTAP):c.653C>T (p.Ala218Val) rs143080527
NM_002451.4(MTAP):c.691-13A>G rs77412364
NM_002451.4(MTAP):c.768T>G (p.Pro256=) rs62556500
NM_002451.4(MTAP):c.788G>T (p.Trp263Leu)
NM_002520.6(NPM1):c.860_863dupTCTG rs587776806
NM_002520.6(NPM1):c.862_863insCATG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insCCTG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insTCAG (p.Trp288fs) rs1057519744
NM_002520.6(NPM1):c.862_863insTCTG (p.Trp288fs) rs1057519744
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.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002608.4(PDGFB):c.160+15C>A rs17303681
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met) rs114786489
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp) rs146468845
NM_002609.4(PDGFRB):c.102C>T (p.Val34=) rs17708515
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=)
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys) rs200684708
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) rs200225593
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) rs374802057
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys) rs200203294
NM_002609.4(PDGFRB):c.1244-4G>A rs1580805805
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) rs199873101
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=) rs138641101
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) rs1312583190
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His) rs149274963
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=) rs116171826
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=) rs371550567
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) rs765124485
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) rs540480924
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) rs142992960
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) rs148974733
NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC (p.Arg507_Cys508insLeuLeuSerVal)
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=)
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=) rs150562879
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) rs371192118
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=) rs1580804718
NM_002609.4(PDGFRB):c.1579+10C>T rs571420039
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.1687G>A (p.Glu563Lys)
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.1761G>A (p.Leu587=) rs56078873
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=)
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) rs770027941
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) rs199649903
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) rs56072663
NM_002609.4(PDGFRB):c.1872T>C (p.His624=) rs141371542
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.2023+5C>T rs369842668
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys)
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=) rs753622898
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe) rs142689325
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=)
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=) rs192355633
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) rs555800957
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn)
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=) rs78336563
NM_002609.4(PDGFRB):c.2464-3C>T rs571983343
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) rs55830572
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile)
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=) rs143375423
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108
NM_002609.4(PDGFRB):c.2549A>T (p.Asp850Val) rs1060499540
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=) rs148709288
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) rs147303614
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) rs144234864
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) rs55647240
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val)
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=)
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=) rs139623802
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys)
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) rs370594710
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) rs1561984983
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) rs35731372
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) rs75748462
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) rs776113877
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=)
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) rs375836509
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) rs149417689
NM_002609.4(PDGFRB):c.3137+4A>G rs246391
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) rs141511317
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) rs183852315
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys)
NM_002609.4(PDGFRB):c.365-4G>T rs139448702
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp)
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=) rs751600349
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=)
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) rs1562011077
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=)
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser)
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys) rs116642123
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=)
NM_002609.4(PDGFRB):c.631+1G>A
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) rs41287114
NM_002609.4(PDGFRB):c.726G>C (p.Val242=) rs149027530
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) rs1580808180
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=) rs56069016
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.4(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
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.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
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>A (p.Ala72Thr) rs121918453
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_003048.6(SLC9A2):c.2173del (p.Gln725fs) rs864309496
NM_003482.3(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
NM_003483.4(HMGA2):c.283-2A>G rs1592471112
NM_003924.3(PHOX2B):c.556G>A (p.Glu186Lys) rs1560465720
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.2(AIP):c.-1212_279+578del
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.*60G>C rs146014363
NM_003977.4(AIP):c.*64G>A rs115346238
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-23A>G rs200665479
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-5G>C rs267606562
NM_003977.4(AIP):c.-84C>G rs540839310
NM_003977.4(AIP):c.-85C>T
NM_003977.4(AIP):c.100-1025_279+357del
NM_003977.4(AIP):c.102C>G (p.Ala34=) rs886048584
NM_003977.4(AIP):c.132C>T (p.Asp44=) rs11822907
NM_003977.4(AIP):c.135C>T (p.Asp45=) rs181969066
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) rs267606537
NM_003977.4(AIP):c.144C>T (p.Thr48=) rs772658134
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385
NM_003977.4(AIP):c.166C>A (p.Arg56Ser) rs267606538
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.4(AIP):c.245_249del (p.Glu82fs) rs267606542
NM_003977.4(AIP):c.249G>A (p.Gly83=)
NM_003977.4(AIP):c.249G>T (p.Gly83=) rs104895072
NM_003977.4(AIP):c.250G>A (p.Glu84Lys) rs267606543
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091
NM_003977.4(AIP):c.280-1G>A rs267606544
NM_003977.4(AIP):c.286_287del (p.Val96fs) rs267606545
NM_003977.4(AIP):c.2T>C (p.Met1Thr) rs267606546
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.350del (p.Gly117fs) rs267606549
NM_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
NM_003977.4(AIP):c.383G>A (p.Arg128His) rs267606550
NM_003977.4(AIP):c.3G>A (p.Met1Ile) rs886037871
NM_003977.4(AIP):c.3_4insC (p.Ala2fs) rs267606547
NM_003977.4(AIP):c.404del (p.His135fs) rs267606551
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194
NM_003977.4(AIP):c.424C>T (p.Gln142Ter) rs267606552
NM_003977.4(AIP):c.429G>A (p.Gln143=) rs267606553
NM_003977.4(AIP):c.468+16G>T rs267607273
NM_003977.4(AIP):c.468+1G>A rs267606554
NM_003977.4(AIP):c.468+3G>A rs868823652
NM_003977.4(AIP):c.469-17T>C rs886037872
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.469-2A>G rs267606556
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.4(AIP):c.500del (p.Pro167fs) rs267606557
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236
NM_003977.4(AIP):c.521_525del (p.Glu174fs) rs267606558
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025
NM_003977.4(AIP):c.573C>T (p.Arg191=) rs781545373
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716
NM_003977.4(AIP):c.601A>T (p.Lys201Ter) rs267606563
NM_003977.4(AIP):c.609C>T (p.Tyr203=) rs146317385
NM_003977.4(AIP):c.646G>T (p.Glu216Ter) rs267606565
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.660C>T (p.Ser220=) rs776495655
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) rs104895075
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) rs267606568
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) rs267606569
NM_003977.4(AIP):c.714C>T (p.Cys238=) rs267606570
NM_003977.4(AIP):c.715C>T (p.Gln239Ter) rs267606571
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573
NM_003977.4(AIP):c.721A>T (p.Lys241Ter) rs267606573
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del) rs267606574
NM_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) rs267606577
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.827C>T (p.Ala276Val) rs61741147
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.4(AIP):c.854_857del (p.Gln285fs) rs267606582
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773
NM_003977.4(AIP):c.906G>A (p.Val302=) rs142912418
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585
NM_003977.4(AIP):c.965C>T (p.Ala322Val) rs267606586
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257
NM_003977.4(AIP):c.987C>T (p.Ser329=) rs267606587
NM_004119.3(FLT3):c.1715A>G (p.Tyr572Cys) rs121913491
NM_004119.3(FLT3):c.1736T>C (p.Val579Ala) rs1057520022
NM_004119.3(FLT3):c.1771T>G (p.Tyr591Asp) rs1057520043
NM_004119.3(FLT3):c.1772A>G (p.Tyr591Cys) rs1057520024
NM_004119.3(FLT3):c.1775T>C (p.Val592Ala) rs1057520025
NM_004119.3(FLT3):c.1780T>C (p.Phe594Leu) rs1057520021
NM_004119.3(FLT3):c.1855G>T (p.Gly619Cys) rs1057519769
NM_004119.3(FLT3):c.1952A>G (p.Asp651Gly) rs1057519768
NM_004119.3(FLT3):c.1987A>C (p.Lys663Gln) rs1057520026
NM_004119.3(FLT3):c.2026A>G (p.Asn676Asp) rs1057519767
NM_004119.3(FLT3):c.2028C>A (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2028C>G (p.Asn676Lys) rs1057519766
NM_004119.3(FLT3):c.2059A>T (p.Ile687Phe) rs1057519765
NM_004119.3(FLT3):c.2073T>A (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2073T>G (p.Phe691Leu) rs1057519764
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile) rs148592477
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_2504delinsTT (p.Asp835Phe) rs1057519763
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.2506A>G (p.Ile836Val) rs1057519726
NM_004119.3(FLT3):c.2506A>T (p.Ile836Phe) rs1057519726
NM_004119.3(FLT3):c.2507T>G (p.Ile836Ser) rs1057520023
NM_004119.3(FLT3):c.2508C>G (p.Ile836Met) rs121913232
NM_004119.3(FLT3):c.2508_2510del (p.Ile836del) rs121913490
NM_004119.3(FLT3):c.2516A>G (p.Asp839Gly) rs991132188
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Asn841_Tyr842insGlySer) rs398122514
NM_004119.3(FLT3):c.2521A>C (p.Asn841His) rs772061268
NM_004119.3(FLT3):c.2523C>A (p.Asn841Lys) rs749281035
NM_004119.3(FLT3):c.2524T>C (p.Tyr842His) rs1057519762
NM_004119.3(FLT3):c.2525A>G (p.Tyr842Cys) rs376588714
NM_004260.3(RECQL4):c.1573del (p.Cys525fs) rs386833845
NM_004260.3(RECQL4):c.1717C>T (p.Gln573Ter) rs1483085748
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163
NM_004304.5(ALK):c.1283-5T>C rs377214413
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155
NM_004327.4(BCR):c.2699A>G (p.Asn900Ser) rs752530462
NM_004327.4(BCR):c.2707+21G>T rs527236142
NM_004327.4(BCR):c.2750T>A (p.Val917Asp) rs527236143
NM_004329.2(BMPR1A):c.499A>T (p.Met167Leu) rs200951235
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs)
NM_004364.4(CEBPA):c.-39C>A rs41434054
NM_004364.4(CEBPA):c.1000G>A (p.Glu334Lys) rs369632687
NM_004364.4(CEBPA):c.1000G>C (p.Glu334Gln) rs369632687
NM_004364.4(CEBPA):c.1009A>T (p.Thr337Ser) rs587778192
NM_004364.4(CEBPA):c.1018G>A (p.Gly340Ser) rs375833261
NM_004364.4(CEBPA):c.1020C>A (p.Gly340=) rs1226278699
NM_004364.4(CEBPA):c.1021A>G (p.Ile341Val) rs372931505
NM_004364.4(CEBPA):c.1041G>A (p.Glu347=) rs141430731
NM_004364.4(CEBPA):c.1045T>C (p.Ser349Pro) rs1060502117
NM_004364.4(CEBPA):c.1055A>G (p.Lys352Arg) rs775099224
NM_004364.4(CEBPA):c.1060A>G (p.Met354Val) rs1060502122
NM_004364.4(CEBPA):c.1064G>A (p.Gly355Asp) rs1358286265
NM_004364.4(CEBPA):c.1073C>T (p.Ala358Val) rs577659401
NM_004364.4(CEBPA):c.109G>A (p.Ala37Thr) rs1404014711
NM_004364.4(CEBPA):c.117C>A (p.Pro39=) rs1318381484
NM_004364.4(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.4(CEBPA):c.120G>T (p.Ala40=) rs1555742292
NM_004364.4(CEBPA):c.138T>A (p.Pro46=) rs1387400759
NM_004364.4(CEBPA):c.14A>C (p.Asp5Ala) rs1555742334
NM_004364.4(CEBPA):c.153G>C (p.Pro51=) rs1054442664
NM_004364.4(CEBPA):c.153G>T (p.Pro51=) rs1054442664
NM_004364.4(CEBPA):c.158G>T (p.Gly53Val) rs1600024079
NM_004364.4(CEBPA):c.159C>T (p.Gly53=) rs1555742279
NM_004364.4(CEBPA):c.165C>T (p.Ile55=) rs1600024047
NM_004364.4(CEBPA):c.16T>A (p.Phe6Ile) rs1600024682
NM_004364.4(CEBPA):c.180G>T (p.Thr60=) rs1243562179
NM_004364.4(CEBPA):c.190A>G (p.Ile64Val) rs1600023975
NM_004364.4(CEBPA):c.195_198delinsACG (p.Ser65fs) rs1600023950
NM_004364.4(CEBPA):c.198_201dupCTAC (p.Ile68Leufs*41) rs137852731
NM_004364.4(CEBPA):c.209C>T (p.Pro70Leu) rs1600023907
NM_004364.4(CEBPA):c.211G>A (p.Ala71Thr) rs1555742260
NM_004364.4(CEBPA):c.217_218insC (p.Phe73fs) rs137852733
NM_004364.4(CEBPA):c.22G>A (p.Glu8Lys) rs1600024672
NM_004364.4(CEBPA):c.246C>A (p.Phe82Leu) rs917977456
NM_004364.4(CEBPA):c.252C>T (p.His84=) rs878854700
NM_004364.4(CEBPA):c.257G>T (p.Arg86Leu) rs1424468512
NM_004364.4(CEBPA):c.261G>T (p.Gln87His) rs868242502
NM_004364.4(CEBPA):c.269A>C (p.Lys90Thr) rs1600023742
NM_004364.4(CEBPA):c.27G>A (p.Ala9=) rs1555742328
NM_004364.4(CEBPA):c.27G>T (p.Ala9=) rs1555742328
NM_004364.4(CEBPA):c.305G>A (p.Gly102Asp) rs1358539228
NM_004364.4(CEBPA):c.318T>C (p.Phe106=) rs1555742225
NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54) rs137852732
NM_004364.4(CEBPA):c.345C>T (p.Pro115=) rs1001507122
NM_004364.4(CEBPA):c.357C>T (p.Val119=) rs1600023390
NM_004364.4(CEBPA):c.358A>G (p.Met120Val) rs1555742209
NM_004364.4(CEBPA):c.363C>A (p.Pro121=) rs1042672907
NM_004364.4(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730
NM_004364.4(CEBPA):c.365G>A (p.Gly122Glu) rs1311096326
NM_004364.4(CEBPA):c.368G>T (p.Gly123Val) rs1600023321
NM_004364.4(CEBPA):c.373C>T (p.His125Tyr) rs896656951
NM_004364.4(CEBPA):c.379C>T (p.Pro127Ser) rs1055210725
NM_004364.4(CEBPA):c.382C>T (p.Pro128Ser) rs1362518517
NM_004364.4(CEBPA):c.383C>G (p.Pro128Arg) rs878854702
NM_004364.4(CEBPA):c.385C>T (p.Pro129Ser) rs1328994773
NM_004364.4(CEBPA):c.386C>A (p.Pro129His) rs1600023223
NM_004364.4(CEBPA):c.387C>A (p.Pro129=) rs1060504477
NM_004364.4(CEBPA):c.387C>G (p.Pro129=) rs1060504477
NM_004364.4(CEBPA):c.388G>A (p.Gly130Ser) rs919904139
NM_004364.4(CEBPA):c.392A>T (p.Tyr131Phe) rs1300977671
NM_004364.4(CEBPA):c.396C>T (p.Gly132=) rs1060504475
NM_004364.4(CEBPA):c.402G>A (p.Ala134=) rs752254340
NM_004364.4(CEBPA):c.413A>T (p.Tyr138Phe) rs908433906
NM_004364.4(CEBPA):c.421G>T (p.Gly141Cys) rs1408671093
NM_004364.4(CEBPA):c.429G>A (p.Leu143=) rs1429417241
NM_004364.4(CEBPA):c.432G>T (p.Glu144Asp) rs1555742184
NM_004364.4(CEBPA):c.448G>T (p.Val150Phe) rs1600023056
NM_004364.4(CEBPA):c.44T>C (p.Met15Thr) rs1600024585
NM_004364.4(CEBPA):c.459G>A (p.Pro153=) rs779373951
NM_004364.4(CEBPA):c.462G>C (p.Ala154=) rs1481499354
NM_004364.4(CEBPA):c.468G>A (p.Arg156=) rs921129497
NM_004364.4(CEBPA):c.501G>A (p.Glu167=) rs1277875501
NM_004364.4(CEBPA):c.522G>A (p.Ala174=) rs1272249243
NM_004364.4(CEBPA):c.522G>T (p.Ala174=) rs1272249243
NM_004364.4(CEBPA):c.527C>T (p.Ala176Val) rs957167825
NM_004364.4(CEBPA):c.532C>G (p.Leu178Val) rs1325138029
NM_004364.4(CEBPA):c.534C>T (p.Leu178=) rs1600022850
NM_004364.4(CEBPA):c.535T>C (p.Phe179Leu) rs1033194020
NM_004364.4(CEBPA):c.541T>C (p.Tyr181His) rs1060502124
NM_004364.4(CEBPA):c.544C>A (p.Gln182Lys) rs1600022835
NM_004364.4(CEBPA):c.545A>C (p.Gln182Pro) rs1555742145
NM_004364.4(CEBPA):c.547C>A (p.Pro183Thr) rs998501847
NM_004364.4(CEBPA):c.547C>T (p.Pro183Ser) rs998501847
NM_004364.4(CEBPA):c.54C>G (p.His18Gln) rs1600024552
NM_004364.4(CEBPA):c.551C>G (p.Pro184Arg) rs1457318927
NM_004364.4(CEBPA):c.558G>A (p.Pro186=) rs1338027134
NM_004364.4(CEBPA):c.560C>A (p.Pro187Gln) rs1600022732
NM_004364.4(CEBPA):c.561G>C (p.Pro187=) rs538441046
NM_004364.4(CEBPA):c.569C>T (p.Ser190Leu) rs1555742114
NM_004364.4(CEBPA):c.573C>T (p.His191=) rs192240793
NM_004364.4(CEBPA):c.576G>A (p.Pro192=) rs878854703
NM_004364.4(CEBPA):c.576G>T (p.Pro192=) rs878854703
NM_004364.4(CEBPA):c.576_577insTACCCG (p.His193_Pro194insTyrPro) rs1555742103
NM_004364.4(CEBPA):c.591G>A (p.Pro197=) rs1253794663
NM_004364.4(CEBPA):c.593C>T (p.Pro198Leu) rs1568419736
NM_004364.4(CEBPA):c.595_596delinsTT (p.Ala199Leu) rs1060502118
NM_004364.4(CEBPA):c.603G>A (p.Leu201=) rs1555742086
NM_004364.4(CEBPA):c.610C>G (p.Pro204Ala) rs1600022363
NM_004364.4(CEBPA):c.612G>C (p.Pro204=) rs552634598
NM_004364.4(CEBPA):c.614A>G (p.His205Arg) rs1568419698
NM_004364.4(CEBPA):c.623T>C (p.Phe208Ser) rs1347174767
NM_004364.4(CEBPA):c.631G>C (p.Ala211Pro) rs1568419687
NM_004364.4(CEBPA):c.633G>T (p.Ala211=) rs1345901618
NM_004364.4(CEBPA):c.634C>T (p.His212Tyr) rs1433126196
NM_004364.4(CEBPA):c.642C>T (p.Gly214=) rs1301372441
NM_004364.4(CEBPA):c.646A>G (p.Thr216Ala) rs1600022240
NM_004364.4(CEBPA):c.654G>T (p.Met218Ile) rs1555742071
NM_004364.4(CEBPA):c.655C>A (p.His219Asn) rs1568419664
NM_004364.4(CEBPA):c.664C>T (p.Pro222Ser) rs1568419654
NM_004364.4(CEBPA):c.666C>A (p.Pro222=) rs1184004794
NM_004364.4(CEBPA):c.666C>G (p.Pro222=) rs1184004794
NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) rs535980233
NM_004364.4(CEBPA):c.684G>A (p.Pro228=) rs1199384366
NM_004364.4(CEBPA):c.68dupC (p.His24Alafs) rs137852728
NM_004364.4(CEBPA):c.690G>T (p.Thr230=) rs34529039
NM_004364.4(CEBPA):c.693C>G (p.Pro231=) rs550308123
NM_004364.4(CEBPA):c.695T>C (p.Val232Ala) rs1600022098
NM_004364.4(CEBPA):c.696G>T (p.Val232=) rs1213133617
NM_004364.4(CEBPA):c.705G>T (p.Pro235=) rs1600022049
NM_004364.4(CEBPA):c.709C>A (p.Pro237Thr) rs921077083
NM_004364.4(CEBPA):c.713C>A (p.Ala238Glu) rs3745972
NM_004364.4(CEBPA):c.715C>G (p.Pro239Ala) rs1162371435
NM_004364.4(CEBPA):c.723C>G (p.Leu241=) rs1408787997
NM_004364.4(CEBPA):c.724G>A (p.Gly242Ser) rs530569305
NM_004364.4(CEBPA):c.72C>A (p.His24Gln) rs1555742309
NM_004364.4(CEBPA):c.733G>A (p.Gly245Ser) rs1315043080
NM_004364.4(CEBPA):c.735C>T (p.Gly245=) rs925688689
NM_004364.4(CEBPA):c.73G>C (p.Ala25Pro) rs1600024440
NM_004364.4(CEBPA):c.741G>C (p.Pro247=) rs1600021917
NM_004364.4(CEBPA):c.748G>A (p.Gly250Ser) rs1555742056
NM_004364.4(CEBPA):c.750C>A (p.Gly250=) rs1280706388
NM_004364.4(CEBPA):c.754G>T (p.Ala252Ser) rs1049967
NM_004364.4(CEBPA):c.756G>C (p.Ala252=) rs571969199
NM_004364.4(CEBPA):c.756G>T (p.Ala252=) rs571969199
NM_004364.4(CEBPA):c.762G>A (p.Lys254=) rs1366451304
NM_004364.4(CEBPA):c.765G>T (p.Gly255=) rs1163957359
NM_004364.4(CEBPA):c.776C>G (p.Ala259Gly) rs746895795
NM_004364.4(CEBPA):c.780C>A (p.His260Gln) rs1429055509
NM_004364.4(CEBPA):c.786C>A (p.Asp262Glu) rs747881336
NM_004364.4(CEBPA):c.786C>T (p.Asp262=) rs747881336
NM_004364.4(CEBPA):c.787C>T (p.Leu263Phe) rs1357810737
NM_004364.4(CEBPA):c.789C>T (p.Leu263=) rs552131738
NM_004364.4(CEBPA):c.790C>T (p.Arg264Cys) rs1228704709
NM_004364.4(CEBPA):c.793_794delinsAT (p.Ala265Met) rs1555742019
NM_004364.4(CEBPA):c.798T>C (p.Ser266=) rs528683666
NM_004364.4(CEBPA):c.802G>T (p.Gly268Cys) rs1568419433
NM_004364.4(CEBPA):c.803G>T (p.Gly268Val) rs780335632
NM_004364.4(CEBPA):c.810C>G (p.Gly270=) rs1480870823
NM_004364.4(CEBPA):c.815G>T (p.Gly272Val) rs1162467731
NM_004364.4(CEBPA):c.816C>G (p.Gly272=) rs750852645
NM_004364.4(CEBPA):c.819G>A (p.Lys273=) rs1600021510
NM_004364.4(CEBPA):c.821C>T (p.Ala274Val) rs767673311
NM_004364.4(CEBPA):c.827A>G (p.Lys276Arg) rs201061067
NM_004364.4(CEBPA):c.831G>T (p.Ser277=) rs764419883
NM_004364.4(CEBPA):c.836A>G (p.Asp279Gly) rs1568419375
NM_004364.4(CEBPA):c.861_862delinsAA (p.Val287_Arg288=) rs1600021341
NM_004364.4(CEBPA):c.867C>G (p.Arg289=) rs1285276568
NM_004364.4(CEBPA):c.87C>T (p.Ala29=) rs1600024411
NM_004364.4(CEBPA):c.882C>G (p.Ile294Met) rs376093748
NM_004364.4(CEBPA):c.882C>T (p.Ile294=) rs376093748
NM_004364.4(CEBPA):c.888G>A (p.Val296=) rs772999335
NM_004364.4(CEBPA):c.88G>T (p.Ala30Ser) rs1555742305
NM_004364.4(CEBPA):c.890G>T (p.Arg297Leu) rs1600021258
NM_004364.4(CEBPA):c.892A>C (p.Lys298Gln) rs1392203731
NM_004364.4(CEBPA):c.897C>T (p.Ser299=) rs893018541
NM_004364.4(CEBPA):c.898_913dup (p.Gln305fs) rs1600021166
NM_004364.4(CEBPA):c.909C>T (p.Ala303=) rs371444741
NM_004364.4(CEBPA):c.913C>G (p.Gln305Glu) rs747606716
NM_004364.4(CEBPA):c.914A>G (p.Gln305Arg) rs1479225242
NM_004364.4(CEBPA):c.918C>A (p.Arg306=) rs773844593
NM_004364.4(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.4(CEBPA):c.926A>G (p.Glu309Gly) rs1568419235
NM_004364.4(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004364.4(CEBPA):c.939G>A (p.Lys313=) rs1600021081
NM_004364.4(CEBPA):c.942G>T (p.Val314=) rs377329266
NM_004364.4(CEBPA):c.948G>A (p.Glu316=) rs1600021056
NM_004364.4(CEBPA):c.94G>A (p.Gly32Ser) rs1348778034
NM_004364.4(CEBPA):c.955A>C (p.Ser319Arg) rs1555741962
NM_004364.4(CEBPA):c.960C>T (p.Asp320=) rs746447033
NM_004364.4(CEBPA):c.985G>A (p.Glu329Lys) rs1568419162
NM_004364.4(CEBPA):c.989A>C (p.Gln330Pro) rs1555741952
NM_004364.4(CEBPA):c.990G>A (p.Gln330=) rs375876732
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr)
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met)
NM_004364.5(CEBPA):c.1017G>C (p.Arg339=)
NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp)
NM_004364.5(CEBPA):c.1020C>T (p.Gly340=)
NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val)
NM_004364.5(CEBPA):c.1025dup (p.Arg343fs)
NM_004364.5(CEBPA):c.1028G>A (p.Arg343His)
NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu)
NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg)
NM_004364.5(CEBPA):c.103C>T (p.Arg35Trp)
NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln)
NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr)
NM_004364.5(CEBPA):c.105G>A (p.Arg35=)
NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val)
NM_004364.5(CEBPA):c.106G>A (p.Gly36Ser)
NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp)
NM_004364.5(CEBPA):c.1071C>T (p.Cys357=)
NM_004364.5(CEBPA):c.1074G>T (p.Ala358=)
NM_004364.5(CEBPA):c.108C>A (p.Gly36=)
NM_004364.5(CEBPA):c.108C>T (p.Gly36=)
NM_004364.5(CEBPA):c.111G>A (p.Ala37=)
NM_004364.5(CEBPA):c.113G>A (p.Gly38Asp)
NM_004364.5(CEBPA):c.115C>G (p.Pro39Ala)
NM_004364.5(CEBPA):c.119C>T (p.Ala40Val)
NM_004364.5(CEBPA):c.124C>T (p.Pro42Ser)
NM_004364.5(CEBPA):c.124_125delinsTT (p.Pro42Phe)
NM_004364.5(CEBPA):c.127_138del (p.Pro43_Pro46del)
NM_004364.5(CEBPA):c.129C>T (p.Pro43=)
NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu)
NM_004364.5(CEBPA):c.139G>T (p.Ala47Ser)
NM_004364.5(CEBPA):c.140C>T (p.Ala47Val)
NM_004364.5(CEBPA):c.141C>T (p.Ala47=)
NM_004364.5(CEBPA):c.142G>A (p.Ala48Thr)
NM_004364.5(CEBPA):c.151C>G (p.Pro51Ala)
NM_004364.5(CEBPA):c.151C>T (p.Pro51Ser)
NM_004364.5(CEBPA):c.152C>T (p.Pro51Leu)
NM_004364.5(CEBPA):c.156G>A (p.Leu52=)
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser)
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter)
NM_004364.5(CEBPA):c.171G>C (p.Glu57Asp)
NM_004364.5(CEBPA):c.177G>A (p.Glu59=)
NM_004364.5(CEBPA):c.183C>T (p.Ser61=)
NM_004364.5(CEBPA):c.186C>A (p.Ile62=)
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met)
NM_004364.5(CEBPA):c.186C>T (p.Ile62=)
NM_004364.5(CEBPA):c.187G>C (p.Asp63His)
NM_004364.5(CEBPA):c.196G>A (p.Ala66Thr)
NM_004364.5(CEBPA):c.206del (p.Asp69fs)
NM_004364.5(CEBPA):c.222C>T (p.Asn74=)
NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del) rs1600023841
NM_004364.5(CEBPA):c.225C>G (p.Asp75Glu)
NM_004364.5(CEBPA):c.233T>A (p.Leu78Gln)
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly)
NM_004364.5(CEBPA):c.24G>A (p.Glu8=)
NM_004364.5(CEBPA):c.260A>C (p.Gln87Pro)
NM_004364.5(CEBPA):c.265_267del (p.Glu89del)
NM_004364.5(CEBPA):c.285G>A (p.Val95=)
NM_004364.5(CEBPA):c.289C>T (p.Pro97Ser)
NM_004364.5(CEBPA):c.290C>T (p.Pro97Leu)
NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg)
NM_004364.5(CEBPA):c.294G>A (p.Thr98=)
NM_004364.5(CEBPA):c.294_296dup (p.Gly104dup)
NM_004364.5(CEBPA):c.295G>A (p.Gly99Ser)
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)
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup)
NM_004364.5(CEBPA):c.297C>A (p.Gly99=)
NM_004364.5(CEBPA):c.305G>C (p.Gly102Ala)
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser)
NM_004364.5(CEBPA):c.312C>G (p.Gly104=)
NM_004364.5(CEBPA):c.315C>T (p.Asp105=)
NM_004364.5(CEBPA):c.319G>T (p.Asp107Tyr)
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr)
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter)
NM_004364.5(CEBPA):c.325C>G (p.Pro109Ala)
NM_004364.5(CEBPA):c.327G>C (p.Pro109=)
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg)
NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu)
NM_004364.5(CEBPA):c.330C>A (p.Gly110=)
NM_004364.5(CEBPA):c.330C>G (p.Gly110=)
NM_004364.5(CEBPA):c.331G>T (p.Ala111Ser)
NM_004364.5(CEBPA):c.332_339del rs1555742213
NM_004364.5(CEBPA):c.334C>G (p.Pro112Ala)
NM_004364.5(CEBPA):c.339G>A (p.Ala113=)
NM_004364.5(CEBPA):c.348C>A (p.Gly116=)
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile)
NM_004364.5(CEBPA):c.355G>C (p.Val119Leu)
NM_004364.5(CEBPA):c.361C>G (p.Pro121Ala)
NM_004364.5(CEBPA):c.361C>T (p.Pro121Ser)
NM_004364.5(CEBPA):c.362C>A (p.Pro121His)
NM_004364.5(CEBPA):c.363C>T (p.Pro121=)
NM_004364.5(CEBPA):c.364G>A (p.Gly122Arg)
NM_004364.5(CEBPA):c.366G>C (p.Gly122=)
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu)
NM_004364.5(CEBPA):c.36G>A (p.Arg12=)
NM_004364.5(CEBPA):c.375C>T (p.His125=)
NM_004364.5(CEBPA):c.379C>G (p.Pro127Ala)
NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser)
NM_004364.5(CEBPA):c.388G>T (p.Gly130Cys)
NM_004364.5(CEBPA):c.406G>A (p.Ala136Thr)
NM_004364.5(CEBPA):c.406G>T (p.Ala136Ser)
NM_004364.5(CEBPA):c.407C>G (p.Ala136Gly)
NM_004364.5(CEBPA):c.408C>A (p.Ala136=)
NM_004364.5(CEBPA):c.416T>C (p.Leu139Pro)
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser)
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys)
NM_004364.5(CEBPA):c.431A>G (p.Glu144Gly)
NM_004364.5(CEBPA):c.437T>C (p.Leu146Pro)
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu)
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)
NM_004364.5(CEBPA):c.447C>T (p.Arg149=)
NM_004364.5(CEBPA):c.450_468delinsTGAT (p.Gly151_Arg156delinsAsp)
NM_004364.5(CEBPA):c.451G>A (p.Gly151Arg)
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp)
NM_004364.5(CEBPA):c.453G>A (p.Gly151=)
NM_004364.5(CEBPA):c.453G>T (p.Gly151=)
NM_004364.5(CEBPA):c.455C>T (p.Ala152Val)
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg)
NM_004364.5(CEBPA):c.459G>C (p.Pro153=)
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile)
NM_004364.5(CEBPA):c.462G>A (p.Ala154=)
NM_004364.5(CEBPA):c.467G>A (p.Arg156Gln)
NM_004364.5(CEBPA):c.477G>A (p.Val159=)
NM_004364.5(CEBPA):c.484C>A (p.Gln162Lys)
NM_004364.5(CEBPA):c.493C>A (p.Arg165Ser)
NM_004364.5(CEBPA):c.494G>A (p.Arg165His)
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys)
NM_004364.5(CEBPA):c.525G>A (p.Leu175=)
NM_004364.5(CEBPA):c.528C>A (p.Ala176=)
NM_004364.5(CEBPA):c.529G>C (p.Gly177Arg)
NM_004364.5(CEBPA):c.530G>A (p.Gly177Asp)
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe)
NM_004364.5(CEBPA):c.533T>C (p.Leu178Pro)
NM_004364.5(CEBPA):c.545A>T (p.Gln182Leu)
NM_004364.5(CEBPA):c.546GCC[10] (p.Pro187_Pro189dup) rs746430067
NM_004364.5(CEBPA):c.546GCC[3] (p.Pro186_Pro189del)
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)
NM_004364.5(CEBPA):c.555G>A (p.Pro185=)
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser)
NM_004364.5(CEBPA):c.557C>T (p.Pro186Leu)
NM_004364.5(CEBPA):c.563C>A (p.Pro188Gln)
NM_004364.5(CEBPA):c.566_567insGCCCTCGCA (p.Ser190_His191insProSerHis)
NM_004364.5(CEBPA):c.567C>T (p.Pro189=)
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro)
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[4] (p.191HP[4]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[5] (p.191HP[5]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[6] (p.191HP[6])
NM_004364.5(CEBPA):c.57G>A (p.Leu19=)
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr)
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu)
NM_004364.5(CEBPA):c.594C>A (p.Pro198=)
NM_004364.5(CEBPA):c.595G>A (p.Ala199Thr)
NM_004364.5(CEBPA):c.609C>G (p.Ala203=)
NM_004364.5(CEBPA):c.60dup (p.Ser21fs)
NM_004364.5(CEBPA):c.62G>T (p.Ser21Ile)
NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr)
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val)
NM_004364.5(CEBPA):c.649A>G (p.Thr217Ala)
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser)
NM_004364.5(CEBPA):c.652A>G (p.Met218Val)
NM_004364.5(CEBPA):c.666C>T (p.Pro222=)
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr)
NM_004364.5(CEBPA):c.67C>T (p.Pro23Ser)
NM_004364.5(CEBPA):c.68C>T (p.Pro23Leu)
NM_004364.5(CEBPA):c.698C>A (p.Pro233His)
NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp)
NM_004364.5(CEBPA):c.709C>T (p.Pro237Ser)
NM_004364.5(CEBPA):c.710C>G (p.Pro237Arg)
NM_004364.5(CEBPA):c.710CCGCGC[3] (p.237PA[3])
NM_004364.5(CEBPA):c.713C>T (p.Ala238Val)
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu)
NM_004364.5(CEBPA):c.720G>T (p.Ala240=)
NM_004364.5(CEBPA):c.723C>A (p.Leu241=)
NM_004364.5(CEBPA):c.729C>T (p.Ala243=)
NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr)
NM_004364.5(CEBPA):c.734G>C (p.Gly245Ala)
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp)
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly)
NM_004364.5(CEBPA):c.752G>C (p.Ser251Thr)
NM_004364.5(CEBPA):c.763G>A (p.Gly255Arg)
NM_004364.5(CEBPA):c.766C>T (p.Leu256=)
NM_004364.5(CEBPA):c.777G>T (p.Ala259=)
NM_004364.5(CEBPA):c.780C>T (p.His260=)
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser)
NM_004364.5(CEBPA):c.783C>T (p.Pro261=)
NM_004364.5(CEBPA):c.792C>T (p.Arg264=)
NM_004364.5(CEBPA):c.79A>G (p.Ser27Gly)
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser)
NM_004364.5(CEBPA):c.811G>T (p.Ala271Ser)
NM_004364.5(CEBPA):c.81C>T (p.Ser27=)
NM_004364.5(CEBPA):c.822C>T (p.Ala274=)
NM_004364.5(CEBPA):c.824A>G (p.Lys275Arg)
NM_004364.5(CEBPA):c.837C>T (p.Asp279=)
NM_004364.5(CEBPA):c.84C>T (p.Ser28=)
NM_004364.5(CEBPA):c.861G>A (p.Val287=)
NM_004364.5(CEBPA):c.868G>T (p.Glu290Ter)
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro)
NM_004364.5(CEBPA):c.893A>G (p.Lys298Arg)
NM_004364.5(CEBPA):c.894G>A (p.Lys298=)
NM_004364.5(CEBPA):c.900C>G (p.Arg300=)
NM_004364.5(CEBPA):c.901G>A (p.Asp301Asn)
NM_004364.5(CEBPA):c.922G>A (p.Val308Met)
NM_004364.5(CEBPA):c.922G>T (p.Val308Leu)
NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala)
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter)
NM_004364.5(CEBPA):c.945G>A (p.Leu315=)
NM_004364.5(CEBPA):c.954C>T (p.Thr318=)
NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly)
NM_004364.5(CEBPA):c.963T>C (p.Asn321=)
NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu)
NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu)
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser)
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp)
NM_004364.5(CEBPA):c.982_985del (p.Val328fs)
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly)
NM_004364.5(CEBPA):c.987A>G (p.Glu329=)
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)
NM_004972.3(JAK2):c.1691G>T (p.Arg564Leu) rs368927897
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_004972.3(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.3(JAK2):c.2624C>A (p.Thr875Asn) rs1057520016
NM_004972.4(JAK2):c.1641+6T>C
NM_004972.4(JAK2):c.2175A>G (p.Glu725=)
NM_004972.4(JAK2):c.2571+5A>C rs775085241
NM_004972.4(JAK2):c.3323A>G rs142269166
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
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_005120.3(MED12):c.100-1_139del rs199469676
NM_005120.3(MED12):c.100-8T>A rs199469675
NM_005120.3(MED12):c.100_141del (p.Asp34_Asn47del) rs199469677
NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del) rs199469678
NM_005120.3(MED12):c.107T>G (p.Leu36Arg) rs199469667
NM_005120.3(MED12):c.107_111delinsGC (p.Leu36_Thr37delinsArg) rs199469679
NM_005120.3(MED12):c.111_155del (p.Ala38_Ser52del) rs199469681
NM_005120.3(MED12):c.113_121del (p.Ala38_Asn40del) rs199469682
NM_005120.3(MED12):c.117_122del (p.Asn40_Val41del) rs199469683
NM_005120.3(MED12):c.118_132del (p.Asn40_Gly44del) rs199469684
NM_005120.3(MED12):c.118_134delinsTA (p.Asn40_Phe45delinsTyr) rs199469680
NM_005120.3(MED12):c.118_146delinsTT (p.Asn40_Pro49delinsPhe) rs199469685
NM_005120.3(MED12):c.122_148del (p.Val41_Pro49del) rs199469686
NM_005120.3(MED12):c.122_163del (p.Val41_Asp54del) rs199469687
NM_005120.3(MED12):c.123_152del (p.Lys42_Val51del) rs199469688
NM_005120.3(MED12):c.126_131del (p.Lys42_Gly44delinsAsn) rs199469689
NM_005120.3(MED12):c.126_140del (p.Lys42_Asn46del) rs199469690
NM_005120.3(MED12):c.128A>C (p.Gln43Pro) rs199469668
NM_005120.3(MED12):c.129_137del (p.Gln43_Asn46delinsHis) rs199469691
NM_005120.3(MED12):c.129_143del (p.Gly44_Gln48del) rs199469692
NM_005120.3(MED12):c.130G>A (p.Gly44Ser) rs199469669
NM_005120.3(MED12):c.130G>C (p.Gly44Arg) rs199469669
NM_005120.3(MED12):c.130G>T (p.Gly44Cys) rs199469669
NM_005120.3(MED12):c.131G>A (p.Gly44Asp) rs199469672
NM_005120.3(MED12):c.131G>C (p.Gly44Ala) rs199469672
NM_005120.3(MED12):c.131G>T (p.Gly44Val) rs199469672
NM_005120.3(MED12):c.133_144del (p.Phe45_Gln48del) rs199469693
NM_005120.3(MED12):c.149_163del (p.Ala50_Asp54del) rs199469694
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.1064A>G (p.Glu355Gly) rs121913450
NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) rs121913452
NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu) rs121913452
NM_005157.6(ABL1):c.1075T>G (p.Phe359Val) rs121913452
NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) rs1057519775
NM_005157.6(ABL1):c.1187A>G (p.His396Arg) rs121913454
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) rs387906517
NM_005157.6(ABL1):c.730A>G (p.Met244Val) rs121913456
NM_005157.6(ABL1):c.742C>G (p.Leu248Val) rs121913455
NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) rs121913453
NM_005157.6(ABL1):c.756G>C (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.756G>T (p.Gln252His) rs121913458
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe) rs121913460
NM_005157.6(ABL1):c.763G>A (p.Glu255Lys) rs121913448
NM_005157.6(ABL1):c.764A>T (p.Glu255Val) rs121913449
NM_005157.6(ABL1):c.847T>G (p.Phe283Val) rs1057519758
NM_005157.6(ABL1):c.895G>C (p.Val299Leu) rs1057519771
NM_005157.6(ABL1):c.931T>C (p.Phe311Leu) rs137853304
NM_005157.6(ABL1):c.943A>G (p.Thr315Ala) rs1057519772
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005157.6(ABL1):c.949T>A (p.Phe317Ile) rs1057519773
NM_005157.6(ABL1):c.949T>C (p.Phe317Leu) rs1057519773
NM_005157.6(ABL1):c.949T>G (p.Phe317Val) rs1057519773
NM_005157.6(ABL1):c.950T>G (p.Phe317Cys) rs1057519774
NM_005157.6(ABL1):c.951C>A (p.Phe317Leu) rs121913451
NM_005157.6(ABL1):c.951C>G (p.Phe317Leu) rs121913451
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
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_005188.3(CBL):c.1463C>T (p.Ala488Val) rs377502790
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005211.3(CSF1R):c.1711T>G (p.Tyr571Asp) rs1057519802
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005373.2(MPL):c.*1054G>A rs139528456
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1116G>A rs144177827
NM_005373.2(MPL):c.*1126A>G rs543250497
NM_005373.2(MPL):c.*1180G>A rs117166528
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1486T>C rs149940158
NM_005373.2(MPL):c.*1506G>A rs115780311
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*1603A>C rs142139493
NM_005373.2(MPL):c.*1674A>T rs536844021
NM_005373.2(MPL):c.*364C>T rs138892634
NM_005373.2(MPL):c.*400C>T rs558390922
NM_005373.2(MPL):c.*573G>A rs192016153
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*662C>T rs1763698
NM_005373.2(MPL):c.*701_*705dup rs752218261
NM_005373.2(MPL):c.*705del rs752218261
NM_005373.2(MPL):c.*709C>T rs185654501
NM_005373.2(MPL):c.*748C>T rs190071085
NM_005373.2(MPL):c.*86C>T rs777930147
NM_005373.2(MPL):c.*871G>A rs540648773
NM_005373.2(MPL):c.*882C>T rs777894453
NM_005373.2(MPL):c.*924C>G rs886046354
NM_005373.2(MPL):c.*94C>A rs77858532
NM_005373.2(MPL):c.*971G>A rs886046355
NM_005373.2(MPL):c.1003G>A (p.Glu335Lys) rs139770726
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
NM_005373.2(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.2(MPL):c.1069C>T (p.Arg357Ter) rs751975712
NM_005373.2(MPL):c.1102G>T (p.Val368Leu) rs149810307
NM_005373.2(MPL):c.1120A>G (p.Thr374Ala) rs190983971
NM_005373.2(MPL):c.1178C>T (p.Thr393Ile) rs779132175
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005373.2(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.2(MPL):c.1238C>T (p.Pro413Leu) rs886046350
NM_005373.2(MPL):c.127C>T (p.Arg43Ter) rs148434485
NM_005373.2(MPL):c.1309-10C>T rs139486615
NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) rs886046351
NM_005373.2(MPL):c.1336G>A (p.Gly446Arg) rs561818288
NM_005373.2(MPL):c.1337G>A (p.Gly446Glu) rs561724539
NM_005373.2(MPL):c.1422G>A (p.Trp474Ter) rs754859909
NM_005373.2(MPL):c.1460C>T (p.Thr487Ile) rs770428240
NM_005373.2(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.1473G>C (p.Trp491Cys) rs121913613
NM_005373.2(MPL):c.1513A>T (p.Ser505Cys) rs1057519752
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.1565+5C>T rs41269541
NM_005373.2(MPL):c.1570C>T (p.Leu524=) rs146372205
NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) rs148784027
NM_005373.2(MPL):c.1653+3G>A rs149625825
NM_005373.2(MPL):c.1654-10T>A rs200460456
NM_005373.2(MPL):c.1666G>T (p.Val556Phe) rs150004498
NM_005373.2(MPL):c.173C>T (p.Ala58Val) rs6087
NM_005373.2(MPL):c.1744_1745del (p.Leu582fs) rs770402221
NM_005373.2(MPL):c.1794C>T (p.Cys598=) rs143457144
NM_005373.2(MPL):c.1803C>T (p.Thr601=) rs140794721
NM_005373.2(MPL):c.1805T>C (p.Met602Thr) rs770770219
NM_005373.2(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.2(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.210G>A (p.Pro70=) rs6086
NM_005373.2(MPL):c.212G>A (p.Arg71Gln) rs368753117
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.311T>C (p.Phe104Ser) rs1196161699
NM_005373.2(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.2(MPL):c.340G>A (p.Val114Met) rs12731981
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.543T>C (p.Gly181=) rs17572791
NM_005373.2(MPL):c.549G>A (p.Thr183=) rs147130173
NM_005373.2(MPL):c.622C>A (p.Gln208Lys) rs111460954
NM_005373.2(MPL):c.655C>G (p.Gln219Glu) rs142737453
NM_005373.2(MPL):c.677C>A (p.Ser226Tyr) rs141063159
NM_005373.2(MPL):c.690+11C>T rs144769485
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_005373.2(MPL):c.754T>C (p.Tyr252His) rs141311765
NM_005373.2(MPL):c.769C>T (p.Arg257Cys) rs121913611
NM_005373.2(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.2(MPL):c.793C>T (p.Leu265Phe) rs117656396
NM_005373.2(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.2(MPL):c.854-3T>C rs201514537
NM_005373.2(MPL):c.92T>C (p.Leu31Pro) rs878854771
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851
NM_005373.2(MPL):c.981-1G>C rs769297582
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418
NM_005373.3(MPL):c.1014G>A (p.Glu338=)
NM_005373.3(MPL):c.1023T>C (p.Asn341=)
NM_005373.3(MPL):c.1025del (p.Pro342fs)
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)
NM_005373.3(MPL):c.1053C>T (p.Arg351=) rs753608517
NM_005373.3(MPL):c.1116G>A (p.Pro372=)
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171
NM_005373.3(MPL):c.1140C>G (p.Gly380=)
NM_005373.3(MPL):c.1165+10T>C
NM_005373.3(MPL):c.1165+1G>C
NM_005373.3(MPL):c.1165+8C>A
NM_005373.3(MPL):c.1166-4G>A rs753315546
NM_005373.3(MPL):c.1167G>A (p.Val389=)
NM_005373.3(MPL):c.1169G>A (p.Arg390His)
NM_005373.3(MPL):c.1197G>A (p.Arg399=)
NM_005373.3(MPL):c.120T>C (p.Cys40=)
NM_005373.3(MPL):c.1242G>A (p.Ser414=)
NM_005373.3(MPL):c.1242G>C (p.Ser414=)
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.1308+8C>A
NM_005373.3(MPL):c.1308+8C>G
NM_005373.3(MPL):c.1309-1G>T
NM_005373.3(MPL):c.1309-6G>A
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
NM_005373.3(MPL):c.1320G>C (p.Pro440=)
NM_005373.3(MPL):c.1338A>G (p.Gly446=)
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)
NM_005373.3(MPL):c.1356C>T (p.Arg452=)
NM_005373.3(MPL):c.1359G>A (p.Pro453=)
NM_005373.3(MPL):c.1401C>T (p.Gly467=)
NM_005373.3(MPL):c.1446G>A (p.Arg482=)
NM_005373.3(MPL):c.1455C>A (p.Thr485=) rs1420201893
NM_005373.3(MPL):c.1468+10G>A
NM_005373.3(MPL):c.1469-10T>C
NM_005373.3(MPL):c.1469-1G>T
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs)
NM_005373.3(MPL):c.1488C>T (p.Thr496=)
NM_005373.3(MPL):c.1536G>A (p.Leu512=)
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter)
NM_005373.3(MPL):c.1566-7C>T
NM_005373.3(MPL):c.1566-8T>C
NM_005373.3(MPL):c.1572G>C (p.Leu524=)
NM_005373.3(MPL):c.1573A>C (p.Arg525=)
NM_005373.3(MPL):c.1573del (p.Arg525fs)
NM_005373.3(MPL):c.1584G>A (p.Leu528=)
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)
NM_005373.3(MPL):c.1629T>C (p.Leu543=)
NM_005373.3(MPL):c.1632G>A (p.Arg544=)
NM_005373.3(MPL):c.1635C>T (p.Asp545=)
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1653+7G>A
NM_005373.3(MPL):c.1654-5C>A
NM_005373.3(MPL):c.1654-5C>T
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile)
NM_005373.3(MPL):c.1704T>C (p.Leu568=) rs1428589548
NM_005373.3(MPL):c.1719G>A (p.Lys573=)
NM_005373.3(MPL):c.174G>A (p.Ala58=) rs141077413
NM_005373.3(MPL):c.1773C>T (p.Tyr591=)
NM_005373.3(MPL):c.1809C>G (p.Pro603=)
NM_005373.3(MPL):c.1818G>A (p.Val606=)
NM_005373.3(MPL):c.198G>A (p.Leu66=)
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)
NM_005373.3(MPL):c.230del (p.Cys77fs)
NM_005373.3(MPL):c.231C>T (p.Cys77=) rs747378368
NM_005373.3(MPL):c.237G>C (p.Leu79=) rs769101640
NM_005373.3(MPL):c.252del (p.Met84fs)
NM_005373.3(MPL):c.255C>T (p.Pro85=)
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)
NM_005373.3(MPL):c.273C>T (p.Tyr91=) rs759361904
NM_005373.3(MPL):c.279C>T (p.Cys93=)
NM_005373.3(MPL):c.27C>T (p.Val9=)
NM_005373.3(MPL):c.306T>A (p.Arg102=)
NM_005373.3(MPL):c.308del (p.Leu103fs)
NM_005373.3(MPL):c.315T>C (p.Phe105=)
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905
NM_005373.3(MPL):c.333G>A (p.Val111=)
NM_005373.3(MPL):c.391+7G>A
NM_005373.3(MPL):c.392-9T>C
NM_005373.3(MPL):c.408C>A (p.Pro136=)
NM_005373.3(MPL):c.408C>G (p.Pro136=)
NM_005373.3(MPL):c.420G>A (p.Lys140=)
NM_005373.3(MPL):c.423C>T (p.Ala141=)
NM_005373.3(MPL):c.455del (p.Ile152fs)
NM_005373.3(MPL):c.464A>T (p.Glu155Val)
NM_005373.3(MPL):c.468G>A (p.Glu156=)
NM_005373.3(MPL):c.492C>T (p.Phe164=)
NM_005373.3(MPL):c.501C>T (p.Tyr167=)
NM_005373.3(MPL):c.513T>C (p.Tyr171=)
NM_005373.3(MPL):c.531G>A (p.Lys177=)
NM_005373.3(MPL):c.534C>T (p.Asn178=)
NM_005373.3(MPL):c.540T>C (p.Thr180=)
NM_005373.3(MPL):c.548C>T (p.Thr183Met)
NM_005373.3(MPL):c.561G>A (p.Leu187=) rs1570465392
NM_005373.3(MPL):c.579C>T (p.Cys193=)
NM_005373.3(MPL):c.603_606del (p.His201fs)
NM_005373.3(MPL):c.723C>T (p.Cys241=)
NM_005373.3(MPL):c.768G>A (p.Leu256=) rs1570465882
NM_005373.3(MPL):c.774C>T (p.Ser258=) rs746721066
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005373.3(MPL):c.79+7T>C
NM_005373.3(MPL):c.793del (p.Leu265fs)
NM_005373.3(MPL):c.795C>T (p.Leu265=)
NM_005373.3(MPL):c.80-7T>C
NM_005373.3(MPL):c.809G>A (p.Gly270Glu)
NM_005373.3(MPL):c.921C>T (p.Asp307=)
NM_005373.3(MPL):c.932C>T (p.Ser311Phe)
NM_005373.3(MPL):c.933C>T (p.Ser311=)
NM_005373.3(MPL):c.936A>G (p.Gln312=)
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505
NM_005373.3(MPL):c.972C>T (p.Pro324=)
NM_005373.3(MPL):c.978C>T (p.Asp326=)
NM_005373.3(MPL):c.984C>T (p.Tyr328=)
NM_005373.3(MPL):c.987C>A (p.Pro329=)
NM_005373.3(MPL):c.988A>T (p.Ile330Phe)
NM_005373.3(MPL):c.999C>T (p.Asn333=)
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_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005896.4(IDH1):c.839C>T (p.Ser280Phe)
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239
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.319+2T>A rs587782401
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441
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.436A>C (p.Ile146Leu) rs781678896
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_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696
NM_012433.3(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_012433.3(SF3B1):c.1997A>C (p.Lys666Thr) rs374250186
NM_012433.3(SF3B1):c.1997A>G (p.Lys666Arg) rs374250186
NM_012433.3(SF3B1):c.1998G>C (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_012433.3(SF3B1):c.2098A>C (p.Lys700Gln) rs559063155
NM_012433.3(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155
NM_012433.3(SF3B1):c.2098A>T (p.Lys700Ter) rs559063155
NM_012433.3(SF3B1):c.2099A>C (p.Lys700Thr) rs1057519756
NM_012433.3(SF3B1):c.2099A>G (p.Lys700Arg) rs1057519756
NM_012433.3(SF3B1):c.2099A>T (p.Lys700Ile) rs1057519756
NM_012433.3(SF3B1):c.2100A>C (p.Lys700Asn) rs1057519755
NM_012433.3(SF3B1):c.2100A>T (p.Lys700Asn) rs1057519755
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)
NM_015338.5(ASXL1):c.1910C>G (p.Ala637Gly) rs769053835
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015885.4(PCF11):c.3225del (p.Phe1075fs) rs864309498
NM_015922.3(NSDHL):c.*129C>T rs145978994
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.1114del (p.Val372fs) rs587784222
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.317C>T (p.Ser106Leu) rs1602937895
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.595C>T (p.Arg199Cys) rs587784223
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.727G>A (p.Val243Met) rs587784224
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_016169.3(SUFU):c.839G>A (p.Arg280Gln) rs145704867
NM_016222.3:c.[711G>T;712C>A]
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)
NM_016222.4(DDX41):c.1586_1587del (p.Thr529fs)
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_016734.3(PAX5):c.701T>C (p.Leu234Pro) rs753068558
NM_017849.3(TMEM127):c.121A>G (p.Ile41Val) rs760633411
NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys) rs992633976
NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) rs797045283
NM_021926.4(ALX4):c.2T>C (p.Met1Thr)
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722
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.4391C>T (p.Ala1464Val) rs374362883
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344
NM_022455.4(NSD1):c.1478C>T (p.Pro493Leu) rs140583358
NM_022455.4(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_022455.4(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.4(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231
NM_022455.4(NSD1):c.4378+1G>A rs587784115
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.1035_1045del (p.Met345fs) rs1573338559
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg) rs771174392
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_022552.5(DNMT3A):c.920C>T (p.Pro307Leu) rs759380437
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)
NM_022904.3(RASAL3):c.-5C>G rs76267899
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp)
NM_023110.3(FGFR1):c.1671del (p.Leu557fs)
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.937-14G>A
NM_024426.6(WT1):c.1157_1158insTGTACGGT (p.Ala387fs) rs1057519745
NM_024426.6(WT1):c.1388G>C (p.Arg463Pro) rs1037084691
NM_024535.5(CORO7):c.2772+50C>T rs1555468179
NM_032638.5(GATA2):c.308C>T (p.Ala103Val)
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser)
NM_032957.4(RTEL1):c.1207+1G>A rs1555903332
NM_033360.4(KRAS):c.112-5C>T rs376520586
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
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.*1085T>C
NM_058172.6(ANTXR2):c.*1099C>T
NM_058172.6(ANTXR2):c.*1113C>T
NM_058172.6(ANTXR2):c.*1114G>A
NM_058172.6(ANTXR2):c.*1126T>A
NM_058172.6(ANTXR2):c.*1133G>A
NM_058172.6(ANTXR2):c.*1136C>T
NM_058172.6(ANTXR2):c.*1295T>C
NM_058172.6(ANTXR2):c.*130A>G
NM_058172.6(ANTXR2):c.*1397G>A
NM_058172.6(ANTXR2):c.*1476G>A
NM_058172.6(ANTXR2):c.*1501G>T
NM_058172.6(ANTXR2):c.*1521A>G
NM_058172.6(ANTXR2):c.*1558C>T
NM_058172.6(ANTXR2):c.*1563A>G
NM_058172.6(ANTXR2):c.*1663G>A
NM_058172.6(ANTXR2):c.*1671T>G
NM_058172.6(ANTXR2):c.*1682T>C
NM_058172.6(ANTXR2):c.*1795G>A
NM_058172.6(ANTXR2):c.*2187A>C
NM_058172.6(ANTXR2):c.*2225A>G
NM_058172.6(ANTXR2):c.*2226A>T
NM_058172.6(ANTXR2):c.*2245G>A
NM_058172.6(ANTXR2):c.*2256T>C
NM_058172.6(ANTXR2):c.*2303A>C
NM_058172.6(ANTXR2):c.*2306A>G
NM_058172.6(ANTXR2):c.*2429G>A
NM_058172.6(ANTXR2):c.*242A>G
NM_058172.6(ANTXR2):c.*2446C>T
NM_058172.6(ANTXR2):c.*245A>G
NM_058172.6(ANTXR2):c.*2550T>C
NM_058172.6(ANTXR2):c.*263C>T
NM_058172.6(ANTXR2):c.*2666A>C
NM_058172.6(ANTXR2):c.*2839G>T
NM_058172.6(ANTXR2):c.*2888G>A
NM_058172.6(ANTXR2):c.*2899A>G
NM_058172.6(ANTXR2):c.*28C>T
NM_058172.6(ANTXR2):c.*2959C>G
NM_058172.6(ANTXR2):c.*3105A>G
NM_058172.6(ANTXR2):c.*3212T>C
NM_058172.6(ANTXR2):c.*336C>T
NM_058172.6(ANTXR2):c.*3371C>A
NM_058172.6(ANTXR2):c.*3468A>G
NM_058172.6(ANTXR2):c.*3473A>G
NM_058172.6(ANTXR2):c.*3533G>A
NM_058172.6(ANTXR2):c.*3544A>G
NM_058172.6(ANTXR2):c.*3597T>G
NM_058172.6(ANTXR2):c.*3602A>G
NM_058172.6(ANTXR2):c.*3606A>G
NM_058172.6(ANTXR2):c.*3649T>A
NM_058172.6(ANTXR2):c.*3695T>C
NM_058172.6(ANTXR2):c.*3707G>A
NM_058172.6(ANTXR2):c.*380T>C
NM_058172.6(ANTXR2):c.*3843G>A
NM_058172.6(ANTXR2):c.*3888T>G
NM_058172.6(ANTXR2):c.*3902C>T
NM_058172.6(ANTXR2):c.*3953G>A
NM_058172.6(ANTXR2):c.*4056T>A
NM_058172.6(ANTXR2):c.*4058A>T
NM_058172.6(ANTXR2):c.*4194C>T
NM_058172.6(ANTXR2):c.*4201A>G
NM_058172.6(ANTXR2):c.*4223T>C
NM_058172.6(ANTXR2):c.*4264T>A
NM_058172.6(ANTXR2):c.*4272C>T
NM_058172.6(ANTXR2):c.*4332G>A
NM_058172.6(ANTXR2):c.*4462A>G
NM_058172.6(ANTXR2):c.*4504C>T
NM_058172.6(ANTXR2):c.*4576A>G
NM_058172.6(ANTXR2):c.*4630A>T
NM_058172.6(ANTXR2):c.*4668T>C
NM_058172.6(ANTXR2):c.*4703T>A
NM_058172.6(ANTXR2):c.*4712C>T
NM_058172.6(ANTXR2):c.*4847C>T
NM_058172.6(ANTXR2):c.*4856C>T
NM_058172.6(ANTXR2):c.*4917G>A
NM_058172.6(ANTXR2):c.*5223G>T
NM_058172.6(ANTXR2):c.*5266A>C
NM_058172.6(ANTXR2):c.*5310T>G
NM_058172.6(ANTXR2):c.*5358A>G
NM_058172.6(ANTXR2):c.*5413A>G
NM_058172.6(ANTXR2):c.*5425G>A
NM_058172.6(ANTXR2):c.*5524C>T
NM_058172.6(ANTXR2):c.*5525G>A
NM_058172.6(ANTXR2):c.*5527A>G
NM_058172.6(ANTXR2):c.*5547T>C
NM_058172.6(ANTXR2):c.*559G>A
NM_058172.6(ANTXR2):c.*5602C>G
NM_058172.6(ANTXR2):c.*5761A>G
NM_058172.6(ANTXR2):c.*677C>T
NM_058172.6(ANTXR2):c.*702A>C
NM_058172.6(ANTXR2):c.*703C>T
NM_058172.6(ANTXR2):c.*728G>A
NM_058172.6(ANTXR2):c.*752C>G
NM_058172.6(ANTXR2):c.*784T>G
NM_058172.6(ANTXR2):c.*785T>C
NM_058172.6(ANTXR2):c.*947T>C
NM_058172.6(ANTXR2):c.-130G>A rs886059659
NM_058172.6(ANTXR2):c.-169T>C
NM_058172.6(ANTXR2):c.-230_-229del rs80314910
NM_058172.6(ANTXR2):c.-261G>T
NM_058172.6(ANTXR2):c.-262A>G rs886059660
NM_058172.6(ANTXR2):c.-266G>A
NM_058172.6(ANTXR2):c.-319C>G rs11557908
NM_058172.6(ANTXR2):c.-366G>C rs886059661
NM_058172.6(ANTXR2):c.-410G>A rs72869605
NM_058172.6(ANTXR2):c.-410dup rs886059662
NM_058172.6(ANTXR2):c.-441C>T rs778888047
NM_058172.6(ANTXR2):c.-442C>G rs886059663
NM_058172.6(ANTXR2):c.-455C>T rs886059664
NM_058172.6(ANTXR2):c.-505G>C rs780730755
NM_058172.6(ANTXR2):c.-590A>T rs142313419
NM_058172.6(ANTXR2):c.-5G>A rs765908500
NM_058172.6(ANTXR2):c.-634C>T
NM_058172.6(ANTXR2):c.-82C>A rs13140055
NM_058172.6(ANTXR2):c.1068C>A (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1068C>G (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_058172.6(ANTXR2):c.1069del (p.Ala357fs)
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly)
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.1148G>A (p.Gly383Asp) rs886039907
NM_058172.6(ANTXR2):c.1179+3T>C
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) rs546102223
NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer) rs1578125066
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala)
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) rs797045028
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr)
NM_058172.6(ANTXR2):c.1347+9C>T rs112023055
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp)
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr)
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val)
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) rs770869771
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) rs35798108
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp)
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=) rs375440055
NM_058172.6(ANTXR2):c.225-4G>A rs141355689
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr) rs886059658
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro) rs797045029
NM_058172.6(ANTXR2):c.252G>A (p.Val84=) rs886059657
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) rs137852902
NM_058172.6(ANTXR2):c.324T>C (p.Asp108=) rs184413338
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646
NM_058172.6(ANTXR2):c.378+8A>C rs4594664
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val)
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) rs137852905
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_058172.6(ANTXR2):c.637-21dup rs373672335
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg)
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) rs137852904
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile)
NM_058172.6(ANTXR2):c.720del (p.Ser240fs)
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp) rs377185226
NM_058172.6(ANTXR2):c.770dup (p.Tyr257Ter) rs1578172709
NM_058172.6(ANTXR2):c.796+3A>C
NM_058172.6(ANTXR2):c.796+9C>T rs113482034
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile) rs113707133
NM_058172.6(ANTXR2):c.867_945del (p.Glu289fs) rs1560998734
NM_058172.6(ANTXR2):c.903dup (p.Ser302fs) rs1553933367
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg) rs202143525
NM_058172.6(ANTXR2):c.945+7A>G
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) rs137852903
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) rs756775841
NM_080425.3(GNAS):c.1200C>A (p.Ala400=) rs908810796
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501
NM_133171.5(ELMO2):c.1065+1G>A rs768410753
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter) rs1568748859
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919
NM_133171.5(ELMO2):c.963G>A (p.Arg321=)
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val) rs864309493
NM_172349.2(NSD1):c.31-22C>A rs144524958
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) rs878855299
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006
NM_198253.3(TERT):c.1620C>G (p.Ile540Met) rs797046041
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343
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.-148G>A rs115238130
NM_207122.1(EXT2):c.-197C>G rs78395259
NM_207122.1(EXT2):c.-307G>T rs569630494
NM_207122.1(EXT2):c.-31+7G>T rs58861092
NM_207122.1(EXT2):c.-311G>A rs3923808
NM_207122.1(EXT2):c.-331T>C rs10458911
NM_207122.1(EXT2):c.-61C>G rs12800404
NM_207122.1(EXT2):c.861_1173+5287del
NM_207122.2(EXT2):c.*1153A>T rs185285766
NM_207122.2(EXT2):c.*339C>T
NM_207122.2(EXT2):c.*440A>G
NM_207122.2(EXT2):c.*672G>C
NM_207122.2(EXT2):c.*838T>G
NM_207122.2(EXT2):c.*862T>G
NM_207122.2(EXT2):c.*882G>T
NM_207122.2(EXT2):c.-45G>T
NM_207122.2(EXT2):c.1003T>C (p.Leu335=)
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888
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.1117G>A (p.Val373Met)
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs)
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) rs1465688101
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter)
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter)
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu)
NM_207122.2(EXT2):c.1167G>A (p.Gln389=)
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs)
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
NM_207122.2(EXT2):c.1179del (p.Trp394fs)
NM_207122.2(EXT2):c.117C>T (p.Ala39=)
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter)
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) rs1590618771
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr)
NM_207122.2(EXT2):c.1195del (p.Tyr399fs)
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu)
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter)
NM_207122.2(EXT2):c.1221C>T (p.Ala407=)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
NM_207122.2(EXT2):c.1231C>T (p.Leu411=)
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter)
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter)
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu)
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys)
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter)
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys)
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer)
NM_207122.2(EXT2):c.1306-7C>G
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)
NM_20712