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