NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)
|
rs1566734
|
0.14574
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)
|
rs56079734
|
0.02335
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)
|
rs538912281
|
0.00247
|
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln)
|
rs104893751
|
0.00233
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)
|
rs537209983
|
0.00009
|
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys)
|
rs121434507
|
0.00006
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)
|
rs778855567
|
0.00003
|
NM_005228.5(EGFR):c.2492G>A (p.Arg831His)
|
rs150036236
|
0.00003
|
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr)
|
rs119490107
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_138711.6(PPARG):c.857G>A (p.Arg286His)
|
rs28936407
|
0.00002
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
0.00001
|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
|
rs121913105
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.1612dup (p.Tyr538fs)
|
rs1230092559
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000245.4(MET):c.3274G>A (p.Val1092Ile)
|
rs786202724
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
NM_000546.6(TP53):c.560-1G>A
|
rs1202793339
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln)
|
rs121917732
|
0.00001
|
NM_001903.5(CTNNA1):c.385C>T (p.Arg129Ter)
|
rs758599826
|
0.00001
|
NM_003579.4(RAD54L):c.188C>A (p.Pro63His)
|
rs121908688
|
0.00001
|
NM_003579.4(RAD54L):c.973G>A (p.Gly325Arg)
|
rs121908690
|
0.00001
|
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)
|
rs587780784
|
0.00001
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005228.5(EGFR):c.988G>A (p.Glu330Lys)
|
rs139429793
|
0.00001
|
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)
|
rs80357729
|
0.00001
|
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His)
|
rs781626187
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter)
|
rs771907995
|
0.00001
|
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter)
|
rs886041158
|
0.00001
|
FGFR2-CLIP1 fusion
|
|
|
NC_000001.10:g.(?_193091331)_(193172992_?)del
|
|
|
NC_000001.10:g.(?_193099298)_(193099379_?)del
|
|
|
NC_000001.10:g.(?_193104511)_(193104729_?)del
|
|
|
NC_000001.10:g.(?_193181185)_(193219842_?)del
|
|
|
NC_000001.10:g.(?_193202113)_(193205496_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193122341_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193125227_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193150392_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193152454_?)del
|
|
|
NC_000001.11:g.(?_193122191)_(193250722_?)del
|
|
|
NC_000001.11:g.(?_193122201)_(193125227_?)del
|
|
|
NC_000001.11:g.(?_193122201)_(193250712_?)del
|
|
|
NC_000001.11:g.(?_193125102)_(193130253_?)del
|
|
|
NC_000001.11:g.(?_193130174)_(193130243_?)del
|
|
|
NC_000001.11:g.(?_193135381)_(193138183_?)del
|
|
|
NC_000001.11:g.(?_193236246)_(193236366_?)del
|
|
|
NC_000008.11:g.52623770_52685461del
|
|
|
NC_000016.10:g.(?_68737292)_(68738411_?)del
|
|
|
NC_000016.10:g.(?_68737292)_(68835537_?)del
|
|
|
NC_000016.10:g.(?_68737292)_(68835541_?)del
|
|
|
NC_000016.10:g.(?_68737406)_(68738421_?)del
|
|
|
NC_000016.10:g.(?_68737406)_(68833509_?)del
|
|
|
NC_000016.10:g.(?_68737416)_(68738421_?)del
|
|
|
NC_000016.10:g.(?_68737416)_(68833499_?)del
|
|
|
NC_000016.10:g.(?_68738291)_(68738417_?)del
|
|
|
NC_000016.10:g.(?_68787043)_(68801903_?)del
|
|
|
NC_000016.10:g.(?_68787043)_(68833499_?)del
|
|
|
NC_000016.10:g.(?_68801660)_(68801903_?)del
|
|
|
NC_000016.10:g.(?_68801670)_(68801893_?)del
|
|
|
NC_000016.10:g.(?_68808414)_(68829807_?)del
|
|
|
NC_000016.10:g.(?_68815505)_(68815769_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68828314_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68829807_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68833499_?)del
|
|
|
NC_000016.10:g.(?_68828164)_(68833509_?)del
|
|
|
NC_000016.10:g.(?_68828168)_(68829803_?)del
|
|
|
NC_000016.10:g.(?_68833280)_(68833509_?)del
|
|
|
NC_000016.10:g.(?_68833284)_(68833505_?)del
|
|
|
NC_000016.10:g.68602418_68796011del
|
|
|
NC_000016.10:g.68815516del
|
rs2152134667
|
|
NC_000016.10:g.68829654del
|
rs2152142199
|
|
NC_000016.9:g.(?_68771319)_(68771376_?)del
|
|
|
NC_000016.9:g.(?_68771319)_(68835806_?)del
|
|
|
NC_000016.9:g.(?_68771319)_(68849672_?)del
|
|
|
NC_000016.9:g.(?_68772190)_(68849672_?)del
|
|
|
NC_000016.9:g.(?_68820946)_(68842761_?)del
|
|
|
NC_000016.9:g.(?_68835563)_(68863710_?)del
|
|
|
NC_000016.9:g.(?_68842321)_(68867407_?)del
|
|
|
NC_000016.9:g.(?_68845577)_(68849672_?)del
|
|
|
NC_000016.9:g.(?_68853173)_(68853338_?)del
|
|
|
NC_000016.9:g.(?_68857534)_(68864665_?)del
|
|
|
NC_000016.9:g.(?_68857535)_68864666del
|
|
|
NC_000016.9:g.(?_68861950)_(68863561_?)del
|
|
|
NC_000016.9:g.(?_68863547)_(68867402_?)del
|
|
|
NC_000016.9:g.(?_68867183)_(68867402_?)del
|
|
|
NM_000038.6(APC):c.-2_135+1824del
|
|
|
NM_000038.6(APC):c.-2_136-2903del
|
|
|
NM_000038.6(APC):c.1046_1140del (p.Gln349fs)
|
rs2149780373
|
|
NM_000038.6(APC):c.1259_1269del (p.Cys420fs)
|
rs2149783399
|
|
NM_000038.6(APC):c.1312+1G>A
|
rs863225310
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.1313-2_1743+144del
|
|
|
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs)
|
rs1554080698
|
|
NM_000038.6(APC):c.1370C>A (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.1409-2del
|
rs2149808371
|
|
NM_000038.6(APC):c.147_150del (p.Lys49fs)
|
rs587781694
|
|
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
|
rs137854580
|
|
NM_000038.6(APC):c.1548G>C (p.Lys516Asn)
|
rs879254090
|
|
NM_000038.6(APC):c.1621C>T (p.Gln541Ter)
|
rs137854572
|
|
NM_000038.6(APC):c.1657del (p.Trp553fs)
|
rs1114167594
|
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
NM_000038.6(APC):c.1695del (p.Val566fs)
|
rs397514032
|
|
NM_000038.6(APC):c.1744-2A>G
|
rs587783035
|
|
NM_000038.6(APC):c.1744-2_1958+1del
|
rs2149840729
|
|
NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter)
|
rs1554083122
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.1875_1878del (p.Asn627fs)
|
rs878853420
|
|
NM_000038.6(APC):c.1886T>G (p.Leu629Ter)
|
rs1019221239
|
|
NM_000038.6(APC):c.194del (p.Gln65fs)
|
rs2149784543
|
|
NM_000038.6(APC):c.1956C>T (p.His652=)
|
rs1064793716
|
|
NM_000038.6(APC):c.1958+1G>A
|
rs1114167569
|
|
NM_000038.6(APC):c.1958G>A (p.Arg653Lys)
|
rs1060503318
|
|
NM_000038.6(APC):c.1959-2A>G
|
rs876658214
|
|
NM_000038.6(APC):c.2031_2034del (p.Ser678fs)
|
rs878853422
|
|
NM_000038.6(APC):c.203T>G (p.Leu68Ter)
|
rs1554069549
|
|
NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs)
|
rs1554083998
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.220G>T (p.Glu74Ter)
|
rs876658941
|
|
NM_000038.6(APC):c.2487del (p.Val830fs)
|
rs2149870772
|
|
NM_000038.6(APC):c.2570del (p.Gly857fs)
|
rs876658472
|
|
NM_000038.6(APC):c.2612del (p.Gly871fs)
|
rs1554084299
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs)
|
rs1131691143
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2893_2896del (p.Asn965fs)
|
rs2149879574
|
|
NM_000038.6(APC):c.2938A>T (p.Lys980Ter)
|
rs1554084592
|
|
NM_000038.6(APC):c.2950G>T (p.Glu984Ter)
|
rs1254176854
|
|
NM_000038.6(APC):c.3026del (p.His1009fs)
|
rs2149882615
|
|
NM_000038.6(APC):c.3028del (p.Ser1010fs)
|
rs1554084648
|
|
NM_000038.6(APC):c.3079del (p.Tyr1027fs)
|
rs863225337
|
|
NM_000038.6(APC):c.3114_3115del (p.Gly1039fs)
|
rs1554084698
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3190G>T (p.Glu1064Ter)
|
rs1462312032
|
|
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)
|
rs587779353
|
|
NM_000038.6(APC):c.325G>T (p.Glu109Ter)
|
rs1414406816
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
NM_000038.6(APC):c.3444_3447del (p.Glu1149fs)
|
rs1554085005
|
|
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)
|
rs1554085029
|
|
NM_000038.6(APC):c.346_359del (p.Gly116fs)
|
rs1554069805
|
|
NM_000038.6(APC):c.3567dup (p.Ser1190fs)
|
rs1554085117
|
|
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter)
|
rs1554085227
|
|
NM_000038.6(APC):c.3847del (p.Ala1283fs)
|
rs2149900353
|
|
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)
|
rs1554085355
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs)
|
rs1064794229
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)
|
rs121913327
|
|
NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs)
|
rs1554085479
|
|
NM_000038.6(APC):c.4164_4165del (p.Ser1389fs)
|
rs2149908008
|
|
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys)
|
rs137854578
|
|
NM_000038.6(APC):c.423-3_531+198del
|
rs2149614301
|
|
NM_000038.6(APC):c.423G>T (p.Arg141Ser)
|
rs863224458
|
|
NM_000038.6(APC):c.4241del (p.Val1414fs)
|
rs1554085659
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)
|
rs387906234
|
|
NM_000038.6(APC):c.453del (p.Glu152fs)
|
rs863224820
|
|
NM_000038.6(APC):c.458del (p.Lys153fs)
|
rs1554071521
|
|
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)
|
rs387906236
|
|
NM_000038.6(APC):c.4666dup (p.Thr1556fs)
|
rs587783031
|
|
NM_000038.6(APC):c.492_495del (p.Asn164fs)
|
rs1554071590
|
|
NM_000038.6(APC):c.4953_4954del (p.Ser1652fs)
|
rs1554086327
|
|
NM_000038.6(APC):c.594dup (p.Ala199fs)
|
rs1554072616
|
|
NM_000038.6(APC):c.5978del (p.Pro1993fs)
|
rs1554087123
|
|
NM_000038.6(APC):c.604del (p.Glu202fs)
|
rs2149640346
|
|
NM_000038.6(APC):c.6135del (p.Ala2046fs)
|
rs1554087239
|
|
NM_000038.6(APC):c.637C>T (p.Arg213Ter)
|
rs587781392
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000038.6(APC):c.706C>T (p.Gln236Ter)
|
rs1554074786
|
|
NM_000038.6(APC):c.74_75del (p.Gln25fs)
|
rs1554067124
|
|
NM_000038.6(APC):c.834+1G>A
|
rs1554076225
|
|
NM_000038.6(APC):c.835-17A>G
|
rs1580511131
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
NM_000038.6(APC):c.893_894del (p.His298fs)
|
rs1114167567
|
|
NM_000038.6(APC):c.933+1G>A
|
rs876660765
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000051.4(ATM):c.5443del (p.Asp1815fs)
|
rs878853522
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8671+2_8671+3insTA
|
rs2137087134
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000142.5(FGFR3):c.850del (p.His284fs)
|
rs587776836
|
|
NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys)
|
rs121913111
|
|
NM_000179.3(MSH6):c.-2_260+3387del
|
|
|
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)
|
rs730881815
|
|
NM_000179.3(MSH6):c.1089dup (p.Val364fs)
|
rs2104318953
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.1808dup (p.Glu604fs)
|
rs1553413200
|
|
NM_000179.3(MSH6):c.1855G>T (p.Glu619Ter)
|
rs1669384406
|
|
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
|
rs863225401
|
|
NM_000179.3(MSH6):c.1982del (p.Gly661fs)
|
rs2104380327
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2316_2317dup (p.Leu773fs)
|
rs1553413693
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3439-2_3556+1del
|
rs2104503689
|
|
NM_000179.3(MSH6):c.3554_3556+2del
|
rs2104510085
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3860_3873dup (p.Gly1292fs)
|
rs2104556388
|
|
NM_000179.3(MSH6):c.3917_3938dup (p.Ile1313_Gln1314insTer)
|
rs1553333584
|
|
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)
|
rs1553333598
|
|
NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)
|
rs1416452389
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.457+1G>T
|
rs2104112957
|
|
NM_000179.3(MSH6):c.458-2_627+1del
|
rs2104227755
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000245.4(MET):c.3392T>C (p.Met1131Thr)
|
rs121913668
|
|
NM_000245.4(MET):c.3518C>T (p.Thr1173Ile)
|
rs121913675
|
|
NM_000245.4(MET):c.3562G>T (p.Val1188Leu)
|
rs121913669
|
|
NM_000245.4(MET):c.3583C>G (p.Leu1195Val)
|
rs121913673
|
|
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)
|
rs121913670
|
|
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn)
|
rs121913671
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg)
|
rs121913677
|
|
NM_000245.4(MET):c.3750G>A (p.Met1250Ile)
|
rs121913676
|
|
NM_000249.4(MLH1):c.1039-2_1409+150del
|
rs2125879653
|
|
NM_000249.4(MLH1):c.1039-2_1409+1del
|
rs2125879720
|
|
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)
|
rs63749906
|
|
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer)
|
rs2125886267
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-2_1667+1del
|
rs2125943381
|
|
NM_000249.4(MLH1):c.1732-1G>A
|
rs267607854
|
|
NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs)
|
rs2125984594
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1896+1G>C
|
rs267607867
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)
|
rs1553663834
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
NM_000249.4(MLH1):c.2131dup (p.Ser711fs)
|
rs2148522538
|
|
NM_000249.4(MLH1):c.2190del (p.Pro731fs)
|
rs587780683
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.306+2T>G
|
rs1553640340
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.322_335del (p.Ser108fs)
|
rs1553641269
|
|
NM_000249.4(MLH1):c.346del (p.Thr116fs)
|
rs63750906
|
|
NM_000249.4(MLH1):c.365del (p.Gly122fs)
|
rs2125757477
|
|
NM_000249.4(MLH1):c.380+1G>A
|
rs267607745
|
|
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.460del (p.Asp154fs)
|
rs1575448385
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
NM_000249.4(MLH1):c.604del (p.Ala202fs)
|
rs1553644155
|
|
NM_000249.4(MLH1):c.631_632del (p.Ser211fs)
|
rs2125808812
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
NM_000249.4(MLH1):c.790+2T>C
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)
|
rs63751598
|
|
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)
|
rs63751598
|
|
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)
|
rs1553648068
|
|
NM_000251.3(MSH2):c.-1_211+1177del
|
|
|
NM_000251.3(MSH2):c.-2_211+156del
|
rs2103865247
|
|
NM_000251.3(MSH2):c.-2_211+1del
|
rs2103865151
|
|
NM_000251.3(MSH2):c.-4_211+864del
|
|
|
NM_000251.3(MSH2):c.1018dup (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1077-2_1276+1del
|
rs2104435254
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.136_164del (p.His46fs)
|
rs63751482
|
|
NM_000251.3(MSH2):c.1387-2del
|
rs2104082025
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1444dup (p.Arg482fs)
|
rs63750068
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
NM_000251.3(MSH2):c.1534_1543del (p.Lys512fs)
|
rs1553366522
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
NM_000251.3(MSH2):c.1560dup (p.Tyr521fs)
|
rs1553366561
|
|
NM_000251.3(MSH2):c.1662-1_1759+1048del
|
|
|
NM_000251.3(MSH2):c.1760-3_2005+453del
|
rs2104334736
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)
|
rs1114167811
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.2006-2_2210+1del
|
rs2104368001
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.212-1_366+712del
|
rs2103974925
|
|
NM_000251.3(MSH2):c.212-2_366+1del
|
rs2103974901
|
|
NM_000251.3(MSH2):c.2148del (p.Asp716fs)
|
rs1553369165
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
NM_000251.3(MSH2):c.2444del (p.Tyr815fs)
|
rs2104409719
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
NM_000251.3(MSH2):c.367-2_645+1del
|
rs2104016560
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
NM_000251.3(MSH2):c.459del (p.Ala154fs)
|
rs2104023773
|
|
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)
|
rs63751444
|
|
NM_000251.3(MSH2):c.613_616dup (p.Thr206fs)
|
rs1553350946
|
|
NM_000251.3(MSH2):c.628_629del (p.Met210fs)
|
rs1553350966
|
|
NM_000251.3(MSH2):c.646-1_648del
|
rs1553351549
|
|
NM_000251.3(MSH2):c.646-1_792+486del
|
rs2104097954
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.696_697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.943-2_1076+1del
|
rs2104242036
|
|
NM_000251.3(MSH2):c.999dup (p.Lys334Ter)
|
rs2104247370
|
|
NM_000314.8(PTEN):c.672del (p.Tyr225fs)
|
rs1564566774
|
|
NM_000321.3(RB1):c.380+2T>C
|
|
|
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
|
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
|
|
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
|
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
|
|
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
|
|
|
NM_000458.4(HNF1B):c.809+1G>A
|
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
NM_000535.7(PMS2):c.1145-1_2006+2del
|
rs2128719778
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
NM_000535.7(PMS2):c.368del (p.Ser123fs)
|
rs2128819251
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)
|
rs1555212014
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.1051A>T (p.Lys351Ter)
|
|
|
NM_000546.6(TP53):c.1118del (p.Lys373fs)
|
rs2150988776
|
|
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)
|
rs876658483
|
|
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)
|
rs1064794618
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
|
|
|
NM_000546.6(TP53):c.448_460del (p.Thr150fs)
|
rs1064792930
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.532del (p.His178fs)
|
rs786202525
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
NM_000546.6(TP53):c.622G>T (p.Asp208Tyr)
|
rs1597368376
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
NM_000546.6(TP53):c.796G>T (p.Gly266Ter)
|
rs1057519990
|
|
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
|
|
|
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.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)
|
rs121913344
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.97-11C>G
|
rs769697802
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.530_536del (p.Arg177fs)
|
rs1575932266
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val)
|
rs121434587
|
|
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu)
|
rs121434588
|
|
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter)
|
rs587776622
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)
|
rs587780088
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001048174.2(MUTYH):c.763A>G (p.Met255Val)
|
rs876659676
|
|
NM_001048174.2(MUTYH):c.775del (p.Ala259fs)
|
rs761468459
|
|
NM_001085377.2(MCC):c.2663C>T (p.Ala888Val)
|
rs121917731
|
|
NM_001127511.3(APC):c.166-28469_166-27547del
|
rs2149682237
|
|
NM_001368894.2(PAX6):c.10+5G>C
|
rs587776572
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)
|
rs121907918
|
|
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
|
rs121907924
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)
|
rs1555166368
|
|
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs)
|
rs587776665
|
|
NM_001372073.1(PDGFRL):c.67C>T (p.His23Tyr)
|
rs137853148
|
|
NM_001378902.1(ROS1):c.3388G>A (p.Gly1130Arg)
|
|
|
NM_001378902.1(ROS1):c.6076G>A (p.Gly2026Arg)
|
rs1057519788
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
NM_001405607.1(PBRM1):c.4043_4050del (p.Asp1348fs)
|
rs864321679
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln)
|
rs28937578
|
|
NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)
|
rs1555303073
|
|
NM_001903.5(CTNNA1):c.1006del (p.Glu336fs)
|
|
|
NM_001903.5(CTNNA1):c.1046C>A (p.Ser349Ter)
|
|
|
NM_001903.5(CTNNA1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_001903.5(CTNNA1):c.1246_1249del (p.Val416fs)
|
rs1426385729
|
|
NM_001903.5(CTNNA1):c.1292_1295del (p.Ile431fs)
|
rs1754363697
|
|
NM_001903.5(CTNNA1):c.1325_1328del (p.Asn442fs)
|
|
|
NM_001903.5(CTNNA1):c.1330dup (p.Glu444fs)
|
rs1758714268
|
|
NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter)
|
rs201498915
|
|
NM_001903.5(CTNNA1):c.1464dup (p.Glu489fs)
|
|
|
NM_001903.5(CTNNA1):c.1473G>A (p.Trp491Ter)
|
|
|
NM_001903.5(CTNNA1):c.1474dup (p.Glu492fs)
|
|
|
NM_001903.5(CTNNA1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_001903.5(CTNNA1):c.151_152del (p.Lys51fs)
|
rs2149656252
|
|
NM_001903.5(CTNNA1):c.1581dup (p.Ile528fs)
|
rs2150288001
|
|
NM_001903.5(CTNNA1):c.1636C>T (p.Arg546Ter)
|
rs1763609978
|
|
NM_001903.5(CTNNA1):c.1636del (p.Arg546fs)
|
|
|
NM_001903.5(CTNNA1):c.1815del (p.Met606fs)
|
|
|
NM_001903.5(CTNNA1):c.1822G>T (p.Glu608Ter)
|
|
|
NM_001903.5(CTNNA1):c.1906del (p.Glu636fs)
|
|
|
NM_001903.5(CTNNA1):c.1928_1929del (p.Asp642_Phe643insTer)
|
|
|
NM_001903.5(CTNNA1):c.1969C>T (p.Gln657Ter)
|
rs1764805365
|
|
NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter)
|
rs1580907792
|
|
NM_001903.5(CTNNA1):c.214_215del (p.Phe72fs)
|
|
|
NM_001903.5(CTNNA1):c.292C>T (p.Arg98Ter)
|
rs773235871
|
|
NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter)
|
rs1043413100
|
|
NM_001903.5(CTNNA1):c.382dup (p.Ala128fs)
|
|
|
NM_001903.5(CTNNA1):c.39G>A (p.Trp13Ter)
|
|
|
NM_001903.5(CTNNA1):c.406dup (p.Thr136fs)
|
rs1581105774
|
|
NM_001903.5(CTNNA1):c.580del (p.Arg194fs)
|
|
|
NM_001903.5(CTNNA1):c.608_623del (p.His203fs)
|
|
|
NM_001903.5(CTNNA1):c.660_666del (p.Tyr222fs)
|
|
|
NM_001903.5(CTNNA1):c.68dup (p.Ala24fs)
|
rs2149651992
|
|
NM_001903.5(CTNNA1):c.739C>T (p.Gln247Ter)
|
|
|
NM_001903.5(CTNNA1):c.86del (p.Leu29fs)
|
rs745411817
|
|
NM_001903.5(CTNNA1):c.892G>T (p.Glu298Ter)
|
|
|
NM_001903.5(CTNNA1):c.919del (p.Glu307fs)
|
rs1760848495
|
|
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)
|
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)
|
rs1575320216
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del)
|
rs587776850
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.1494dup (p.His499fs)
|
rs1553631896
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)
|
rs778624338
|
|
NM_002354.3(EPCAM):c.556-3_657+288del
|
rs2103756948
|
|
NM_002354.3(EPCAM):c.859-2_903+43del
|
rs2103768437
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002555.6(SLC22A18):c.864_865ins[NC_000011.10:g.2919738_2919848]
|
|
|
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg)
|
rs121434623
|
|
NM_003000.3(SDHB):c.661del (p.Asp221fs)
|
|
|
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs)
|
rs587776627
|
|
NM_003921.5(BCL10):c.136dup (p.Ile46fs)
|
rs387906351
|
|
NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile)
|
rs180177032
|
|
NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser)
|
rs180177033
|
|
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)
|
rs121913348
|
|
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)
|
rs121913366
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
rs121913364
|
|
NM_004336.5(BUB1):c.3069del (p.His1024fs)
|
rs587776642
|
|
NM_004360.3(CDH1):c.388-?_*2042+?del
|
|
|
NM_004360.4:c.(1008+1_1009-1)_(1711+1_1712-1)del
|
|
|
NM_004360.4:c.(1320+1_1321-1)_(1711+1_1712-1)del
|
|
|
NM_004360.4:c.(1565+1_1566-1)_(1711+1_1712-1)del
|
|
|
NM_004360.4:c.(1565+1_1566-1)_(2164+1_2165-1)del
|
|
|
NM_004360.4:c.(163+1_164-1)_(1137+1_1138-1)del
|
|
|
NM_004360.4:c.(163+1_164-1)_(387+1_388-1)del
|
|
|
NM_004360.4:c.(387+1_388-1)_(1711+1_1712-1)dup
|
|
|
NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)
|
rs267606712
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
NM_004360.5(CDH1):c.1020_1051del (p.Tyr341fs)
|
|
|
NM_004360.5(CDH1):c.1023T>G (p.Tyr341Ter)
|
rs587776398
|
|
NM_004360.5(CDH1):c.1036C>T (p.Gln346Ter)
|
rs878854676
|
|
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
NM_004360.5(CDH1):c.1040_1041dup (p.Ala348fs)
|
|
|
NM_004360.5(CDH1):c.1051C>T (p.Gln351Ter)
|
rs1555515726
|
|
NM_004360.5(CDH1):c.1056del (p.Glu353fs)
|
|
|
NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys)
|
rs876661091
|
|
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
|
|
|
NM_004360.5(CDH1):c.1062dup (p.Leu355fs)
|
|
|
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1064dup (p.Leu355fs)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1070del (p.Thr357fs)
|
|
|
NM_004360.5(CDH1):c.1078del (p.Thr360fs)
|
|
|
NM_004360.5(CDH1):c.1085del (p.Val362fs)
|
rs1555515739
|
|
NM_004360.5(CDH1):c.1091_1092del (p.Thr364fs)
|
|
|
NM_004360.5(CDH1):c.1091del (p.Thr364fs)
|
|
|
NM_004360.5(CDH1):c.1093_1094del (p.Val365fs)
|
|
|
NM_004360.5(CDH1):c.1097_1112del (p.Thr366fs)
|
|
|
NM_004360.5(CDH1):c.1098_1099insAA (p.Asp367fs)
|
|
|
NM_004360.5(CDH1):c.1098_1101del (p.Asp367fs)
|
|
|
NM_004360.5(CDH1):c.1107del (p.Asn369fs)
|
rs1567507138
|
|
NM_004360.5(CDH1):c.1123_1129del (p.Phe375fs)
|
|
|
NM_004360.5(CDH1):c.1131del (p.Thr378fs)
|
rs1131690812
|
|
NM_004360.5(CDH1):c.1135_1137+5delinsTTAGA
|
|
|
NM_004360.5(CDH1):c.1137+2T>C
|
rs786202817
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1141A>T (p.Lys381Ter)
|
|
|
NM_004360.5(CDH1):c.1143_1145delinsA (p.Gly382fs)
|
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)
|
rs587782798
|
|
NM_004360.5(CDH1):c.1155dup (p.Glu386Ter)
|
|
|
NM_004360.5(CDH1):c.1162G>T (p.Glu388Ter)
|
|
|
NM_004360.5(CDH1):c.1170del (p.Asn390fs)
|
rs1567507724
|
|
NM_004360.5(CDH1):c.1189A>T (p.Lys397Ter)
|
rs1960892947
|
|
NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)
|
rs1962423346
|
|
NM_004360.5(CDH1):c.1211_1212dup (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1212del (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1212dup (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1215del (p.Asn405fs)
|
rs2152133449
|
|
NM_004360.5(CDH1):c.1220del (p.Pro407fs)
|
rs886037822
|
|
NM_004360.5(CDH1):c.1222dup (p.Ala408fs)
|
|
|
NM_004360.5(CDH1):c.1226G>A (p.Trp409Ter)
|
|
|
NM_004360.5(CDH1):c.1227G>A (p.Trp409Ter)
|
rs1960895237
|
|
NM_004360.5(CDH1):c.1228G>T (p.Glu410Ter)
|
|
|
NM_004360.5(CDH1):c.1234_1235dup (p.Ile415fs)
|
rs1567507825
|
|
NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs)
|
rs876658865
|
|
NM_004360.5(CDH1):c.1260dup (p.Gly421fs)
|
|
|
NM_004360.5(CDH1):c.1264C>T (p.Gln422Ter)
|
|
|
NM_004360.5(CDH1):c.1266del (p.Gln422fs)
|
|
|
NM_004360.5(CDH1):c.1269del (p.Phe423fs)
|
|
|
NM_004360.5(CDH1):c.1273del (p.Val425fs)
|
|
|
NM_004360.5(CDH1):c.1295_1296delinsTTTT (p.Asn432fs)
|
|
|
NM_004360.5(CDH1):c.1301del (p.Gly434fs)
|
|
|
NM_004360.5(CDH1):c.1312del (p.Thr438fs)
|
rs1555515920
|
|
NM_004360.5(CDH1):c.1315_1316delinsCAA (p.Ala439fs)
|
|
|
NM_004360.5(CDH1):c.1338_1345del (p.Lys447fs)
|
|
|
NM_004360.5(CDH1):c.1340_1346del (p.Lys447fs)
|
|
|
NM_004360.5(CDH1):c.1342C>T (p.Gln448Ter)
|
|
|
NM_004360.5(CDH1):c.1342dup (p.Gln448fs)
|
rs1960958360
|
|
NM_004360.5(CDH1):c.1343dup (p.Gln449fs)
|
|
|
NM_004360.5(CDH1):c.1350C>G (p.Tyr450Ter)
|
|
|
NM_004360.5(CDH1):c.1350_1362del (p.Gln449_Tyr450insTer)
|
rs2152134718
|
|
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)
|
rs886039612
|
|
NM_004360.5(CDH1):c.1356_1362del (p.His453fs)
|
rs2152134736
|
|
NM_004360.5(CDH1):c.1369del (p.Thr457fs)
|
rs1960959718
|
|
NM_004360.5(CDH1):c.136del (p.Leu46fs)
|
|
|
NM_004360.5(CDH1):c.1373del (p.Asn458fs)
|
rs1960960044
|
|
NM_004360.5(CDH1):c.137del (p.Leu46fs)
|
|
|
NM_004360.5(CDH1):c.1380del (p.Pro461fs)
|
rs1567508847
|
|
NM_004360.5(CDH1):c.1382_1389del (p.Pro461fs)
|
|
|
NM_004360.5(CDH1):c.1386del (p.Phe462fs)
|
|
|
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs)
|
rs1597897893
|
|
NM_004360.5(CDH1):c.1397_1409delinsAAA (p.Leu466fs)
|
rs1597897917
|
|
NM_004360.5(CDH1):c.1401del (p.Thr468fs)
|
|
|
NM_004360.5(CDH1):c.1404del (p.Ser469fs)
|
|
|
NM_004360.5(CDH1):c.1416dup (p.Val473fs)
|
|
|
NM_004360.5(CDH1):c.1418del (p.Val473fs)
|
rs1960962662
|
|
NM_004360.5(CDH1):c.1438_1453del (p.Val480fs)
|
|
|
NM_004360.5(CDH1):c.144_151dup (p.Val51fs)
|
|
|
NM_004360.5(CDH1):c.1450_1463del (p.Pro484fs)
|
|
|
NM_004360.5(CDH1):c.1460_1461del (p.Val487fs)
|
rs1567508939
|
|
NM_004360.5(CDH1):c.1466dup (p.Pro489_Glu490insTer)
|
|
|
NM_004360.5(CDH1):c.1467del (p.Glu490fs)
|
|
|
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs)
|
rs876659208
|
|
NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter)
|
rs778871891
|
|
NM_004360.5(CDH1):c.1484del (p.Val495fs)
|
|
|
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)
|
rs876658261
|
|
NM_004360.5(CDH1):c.1489G>T (p.Glu497Ter)
|
|
|
NM_004360.5(CDH1):c.1492del (p.Asp498fs)
|
|
|
NM_004360.5(CDH1):c.150_151dup (p.Val51fs)
|
rs2152114474
|
|
NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter)
|
rs1131690810
|
|
NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer)
|
|
|
NM_004360.5(CDH1):c.1543dup (p.Thr515fs)
|
|
|
NM_004360.5(CDH1):c.1544_1545del (p.Thr515fs)
|
|
|
NM_004360.5(CDH1):c.1551_1554del (p.Met517fs)
|
|
|
NM_004360.5(CDH1):c.1555C>T (p.Gln519Ter)
|
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>C
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
NM_004360.5(CDH1):c.1565+1del
|
rs1064795267
|
|
NM_004360.5(CDH1):c.1565+2_1565+3insTT
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)
|
rs876659716
|
|
NM_004360.5(CDH1):c.1569T>G (p.Tyr523Ter)
|
rs876659716
|
|
NM_004360.5(CDH1):c.1577G>A (p.Trp526Ter)
|
rs1596960298
|
|
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter)
|
rs886039590
|
|
NM_004360.5(CDH1):c.1582_1583del (p.Asp528fs)
|
|
|
NM_004360.5(CDH1):c.1587dup (p.Ala530fs)
|
rs1555516532
|
|
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
|
rs1555516535
|
|
NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter)
|
rs1596960368
|
|
NM_004360.5(CDH1):c.1600dup (p.Glu534fs)
|
|
|
NM_004360.5(CDH1):c.1605del (p.Asn536fs)
|
rs1596960393
|
|
NM_004360.5(CDH1):c.1612del (p.Asp538fs)
|
rs1555516545
|
|
NM_004360.5(CDH1):c.1616del (p.Thr539fs)
|
rs2152136838
|
|
NM_004360.5(CDH1):c.1629del (p.Thr544fs)
|
|
|
NM_004360.5(CDH1):c.1641del (p.Glu547fs)
|
rs2152136881
|
|
NM_004360.5(CDH1):c.1651G>T (p.Glu551Ter)
|
|
|
NM_004360.5(CDH1):c.1660G>T (p.Glu554Ter)
|
|
|
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)
|
rs1555516567
|
|
NM_004360.5(CDH1):c.1682dup (p.Tyr561Ter)
|
|
|
NM_004360.5(CDH1):c.1686_1687insCG (p.Ala563fs)
|
rs1961079421
|
|
NM_004360.5(CDH1):c.1689_1694delinsACGTA (p.Leu564fs)
|
|
|
NM_004360.5(CDH1):c.1695_1696insTT (p.Ile566fs)
|
rs2152137001
|
|
NM_004360.5(CDH1):c.1705_1708del (p.Asp569fs)
|
|
|
NM_004360.5(CDH1):c.1710del (p.Asn570fs)
|
rs1961081411
|
|
NM_004360.5(CDH1):c.1711+1G>C
|
rs886041161
|
|
NM_004360.5(CDH1):c.1711+1dup
|
rs2152137028
|
|
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)
|
rs786202290
|
|
NM_004360.5(CDH1):c.1714dup (p.Ser572fs)
|
|
|
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
|
|
|
NM_004360.5(CDH1):c.1733del (p.Thr578fs)
|
|
|
NM_004360.5(CDH1):c.1746dup (p.Leu583fs)
|
rs1131690817
|
|
NM_004360.5(CDH1):c.1763_1764del (p.Val588fs)
|
rs1961158988
|
|
NM_004360.5(CDH1):c.1779del (p.Ile594fs)
|
rs876661118
|
|
NM_004360.5(CDH1):c.1779dup (p.Ile594fs)
|
rs876661118
|
|
NM_004360.5(CDH1):c.1786G>T (p.Glu596Ter)
|
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
NM_004360.5(CDH1):c.1795del (p.Thr599fs)
|
|
|
NM_004360.5(CDH1):c.1805_1806delinsAG (p.Phe602Ter)
|
|
|
NM_004360.5(CDH1):c.1806_1807del (p.Phe602fs)
|
|
|
NM_004360.5(CDH1):c.1828C>T (p.Gln610Ter)
|
|
|
NM_004360.5(CDH1):c.182delinsGT (p.Thr61fs)
|
|
|
NM_004360.5(CDH1):c.1840del (p.Ile614fs)
|
|
|
NM_004360.5(CDH1):c.1849_1856del (p.Ala617fs)
|
rs2152138436
|
|
NM_004360.5(CDH1):c.1878_1885del (p.Phe626fs)
|
rs2152138505
|
|
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)
|
rs587783047
|
|
NM_004360.5(CDH1):c.1889_1892del (p.Leu630fs)
|
rs2152138523
|
|
NM_004360.5(CDH1):c.1889del (p.Leu630fs)
|
|
|
NM_004360.5(CDH1):c.1893dup (p.His632fs)
|
rs1596963827
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
NM_004360.5(CDH1):c.1906_1907insA (p.Ala636fs)
|
|
|
NM_004360.5(CDH1):c.1913G>A (p.Trp638Ter)
|
rs1567512585
|
|
NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)
|
rs1961170989
|
|
NM_004360.5(CDH1):c.1917_1918del (p.Ile640fs)
|
rs1555516896
|
|
NM_004360.5(CDH1):c.1920dup (p.Gln641fs)
|
rs2152138595
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
NM_004360.5(CDH1):c.1926C>G (p.Tyr642Ter)
|
|
|
NM_004360.5(CDH1):c.1928del (p.Asn643fs)
|
|
|
NM_004360.5(CDH1):c.1935_1936+9del
|
|
|
NM_004360.5(CDH1):c.1939C>T (p.Gln647Ter)
|
rs778195664
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)
|
rs1555517074
|
|
NM_004360.5(CDH1):c.1948_1949dup (p.Ile651fs)
|
rs1555517074
|
|
NM_004360.5(CDH1):c.1955dup (p.Leu652fs)
|
|
|
NM_004360.5(CDH1):c.1962_1971del (p.Pro654_Lys655insTer)
|
rs1961224909
|
|
NM_004360.5(CDH1):c.1965del (p.Met656fs)
|
|
|
NM_004360.5(CDH1):c.1973dup (p.Leu658fs)
|
rs1961225620
|
|
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
|
rs730881653
|
|
NM_004360.5(CDH1):c.1982del (p.Gly661fs)
|
rs1596965628
|
|
NM_004360.5(CDH1):c.1984_1987dup (p.Tyr663Ter)
|
|
|
NM_004360.5(CDH1):c.1993del (p.Ile665fs)
|
rs1567513227
|
|
NM_004360.5(CDH1):c.1999del (p.Leu667fs)
|
rs786202033
|
|
NM_004360.5(CDH1):c.1A>G (p.Met1Val)
|
rs1555509622
|
|
NM_004360.5(CDH1):c.1A>T (p.Met1Leu)
|
|
|
NM_004360.5(CDH1):c.2018del (p.Gln673fs)
|
rs1961229029
|
|
NM_004360.5(CDH1):c.2029dup (p.Gln677fs)
|
rs1555517100
|
|
NM_004360.5(CDH1):c.202del (p.Tyr68fs)
|
rs786202151
|
|
NM_004360.5(CDH1):c.2031del (p.Gln677_Val678insTer)
|
|
|
NM_004360.5(CDH1):c.2033dup (p.Thr679fs)
|
|
|
NM_004360.5(CDH1):c.2049_2056del (p.Val683_Ser684insTer)
|
|
|
NM_004360.5(CDH1):c.2054dup (p.Cys686fs)
|
rs2152139452
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.2085T>A (p.Cys695Ter)
|
|
|
NM_004360.5(CDH1):c.208dup (p.Ser70fs)
|
rs1555514406
|
|
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)
|
rs121964874
|
|
NM_004360.5(CDH1):c.2100del (p.Val701fs)
|
rs1555517136
|
|
NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter)
|
rs149127230
|
|
NM_004360.5(CDH1):c.2114del (p.Leu705fs)
|
|
|
NM_004360.5(CDH1):c.2116C>T (p.Gln706Ter)
|
|
|
NM_004360.5(CDH1):c.2116del (p.Gln706fs)
|
rs1961235503
|
|
NM_004360.5(CDH1):c.2144del (p.Gly715fs)
|
rs1555517153
|
|
NM_004360.5(CDH1):c.2164+1G>T
|
|
|
NM_004360.5(CDH1):c.2164+2T>A
|
|
|
NM_004360.5(CDH1):c.2164+6_2439+966del
|
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
NM_004360.5(CDH1):c.2183T>A (p.Leu728Ter)
|
|
|
NM_004360.5(CDH1):c.2190_2193del (p.Leu731fs)
|
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
NM_004360.5(CDH1):c.2200A>T (p.Arg734Ter)
|
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
NM_004360.5(CDH1):c.2220del (p.Leu741fs)
|
|
|
NM_004360.5(CDH1):c.2222T>A (p.Leu741Ter)
|
rs2152141461
|
|
NM_004360.5(CDH1):c.2222T>G (p.Leu741Ter)
|
|
|
NM_004360.5(CDH1):c.2253del (p.Asn751fs)
|
rs2152141521
|
|
NM_004360.5(CDH1):c.2272G>T (p.Glu758Ter)
|
rs786202785
|
|
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
|
|
|
NM_004360.5(CDH1):c.2276del (p.Gly759fs)
|
rs1555517680
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.228dup (p.Val77fs)
|
|
|
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter)
|
rs876658575
|
|
NM_004360.5(CDH1):c.2293dup (p.Gln765fs)
|
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
NM_004360.5(CDH1):c.2296-2A>G
|
rs876660393
|
|
NM_004360.5(CDH1):c.2297_2307delinsTTGA (p.Asp766fs)
|
|
|
NM_004360.5(CDH1):c.2301del (p.Phe767fs)
|
|
|
NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)
|
rs1131690813
|
|
NM_004360.5(CDH1):c.2311_2317del (p.Gln771fs)
|
|
|
NM_004360.5(CDH1):c.2324del (p.Gly775fs)
|
rs1060501248
|
|
NM_004360.5(CDH1):c.2351_2352del (p.Arg784fs)
|
|
|
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
|
|
|
NM_004360.5(CDH1):c.2386del (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2387_2406del (p.Arg796fs)
|
rs1555517889
|
|
NM_004360.5(CDH1):c.2389dup (p.Tyr797fs)
|
rs1961431691
|
|
NM_004360.5(CDH1):c.2398del (p.Arg800fs)
|
rs587783048
|
|
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
|
|
|
NM_004360.5(CDH1):c.2422G>T (p.Gly808Ter)
|
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.2440-396_*224delinsGGA
|
rs2152143625
|
|
NM_004360.5(CDH1):c.244_248del (p.Val82fs)
|
|
|
NM_004360.5(CDH1):c.2474del (p.Pro825fs)
|
rs1555518221
|
|
NM_004360.5(CDH1):c.2474dup (p.Pro826fs)
|
rs1555518221
|
|
NM_004360.5(CDH1):c.247delinsGTGTGG (p.Ile83fs)
|
|
|
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter)
|
rs1596976243
|
|
NM_004360.5(CDH1):c.2490dup (p.Leu831fs)
|
rs1131690822
|
|
NM_004360.5(CDH1):c.259dup (p.Arg87fs)
|
|
|
NM_004360.5(CDH1):c.25_26del (p.Ser9fs)
|
|
|
NM_004360.5(CDH1):c.261del (p.Arg87fs)
|
rs1555514429
|
|
NM_004360.5(CDH1):c.267dup (p.Arg90fs)
|
|
|
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)
|
rs1555509646
|
|
NM_004360.5(CDH1):c.281_283delinsGT (p.Pro94fs)
|
|
|
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter)
|
rs781409616
|
|
NM_004360.5(CDH1):c.294delinsTT (p.Leu99fs)
|
|
|
NM_004360.5(CDH1):c.2T>C (p.Met1Thr)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.2T>G (p.Met1Arg)
|
rs1555509623
|
|
NM_004360.5(CDH1):c.301_314del (p.Tyr101fs)
|
|
|
NM_004360.5(CDH1):c.303C>G (p.Tyr101Ter)
|
|
|
NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)
|
rs1555514464
|
|
NM_004360.5(CDH1):c.309G>A (p.Trp103Ter)
|
rs2152126900
|
|
NM_004360.5(CDH1):c.315del (p.Thr106fs)
|
rs1064795703
|
|
NM_004360.5(CDH1):c.318del (p.Tyr107fs)
|
|
|
NM_004360.5(CDH1):c.31del (p.Leu11fs)
|
rs2152113974
|
|
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)
|
rs765929630
|
|
NM_004360.5(CDH1):c.322del (p.Arg108fs)
|
|
|
NM_004360.5(CDH1):c.325_326del (p.Lys109fs)
|
rs1960519159
|
|
NM_004360.5(CDH1):c.326del (p.Lys109fs)
|
|
|
NM_004360.5(CDH1):c.331del (p.Ser111fs)
|
|
|
NM_004360.5(CDH1):c.333del (p.Thr112fs)
|
|
|
NM_004360.5(CDH1):c.336del (p.Val114fs)
|
|
|
NM_004360.5(CDH1):c.348_351dup (p.Thr118fs)
|
rs2152126989
|
|
NM_004360.5(CDH1):c.360del (p.His121fs)
|
rs878854690
|
|
NM_004360.5(CDH1):c.360dup (p.His121fs)
|
rs878854690
|
|
NM_004360.5(CDH1):c.376_382del (p.Pro126fs)
|
|
|
NM_004360.5(CDH1):c.376_382dup (p.His128fs)
|
rs1567501500
|
|
NM_004360.5(CDH1):c.377del (p.Pro126fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.377dup (p.Pro127fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
NM_004360.5(CDH1):c.384dup (p.Gln129fs)
|
|
|
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
|
|
|
NM_004360.5(CDH1):c.3G>A (p.Met1Ile)
|
rs878854691
|
|
NM_004360.5(CDH1):c.410del (p.Ala137fs)
|
|
|
NM_004360.5(CDH1):c.414_415dup (p.Leu139fs)
|
|
|
NM_004360.5(CDH1):c.416del (p.Leu139fs)
|
|
|
NM_004360.5(CDH1):c.419_420del (p.Leu140fs)
|
|
|
NM_004360.5(CDH1):c.423_424dup (p.Phe142fs)
|
|
|
NM_004360.5(CDH1):c.42dup (p.Leu15fs)
|
|
|
NM_004360.5(CDH1):c.431del (p.Asn144fs)
|
|
|
NM_004360.5(CDH1):c.438_439del (p.Pro147fs)
|
rs1555515197
|
|
NM_004360.5(CDH1):c.454_460del (p.Gln152fs)
|
rs1131690815
|
|
NM_004360.5(CDH1):c.454_460dup (p.Arg154fs)
|
rs1131690815
|
|
NM_004360.5(CDH1):c.455_465del (p.Gln152fs)
|
rs1555515210
|
|
NM_004360.5(CDH1):c.456_457delinsTT (p.Gln152_Lys153delinsHisTer)
|
|
|
NM_004360.5(CDH1):c.457A>T (p.Lys153Ter)
|
rs1567504575
|
|
NM_004360.5(CDH1):c.45_46insT (p.Gln16fs)
|
|
|
NM_004360.5(CDH1):c.464_467dup (p.Trp156Ter)
|
|
|
NM_004360.5(CDH1):c.467G>A (p.Trp156Ter)
|
rs1555515215
|
|
NM_004360.5(CDH1):c.46C>T (p.Gln16Ter)
|
|
|
NM_004360.5(CDH1):c.471dup (p.Ile158fs)
|
rs1960728762
|
|
NM_004360.5(CDH1):c.479_480del (p.Pro160fs)
|
|
|
NM_004360.5(CDH1):c.47dup (p.Val17fs)
|
|
|
NM_004360.5(CDH1):c.48+1G>A
|
rs1440280370
|
|
NM_004360.5(CDH1):c.48+1G>C
|
|
|
NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)
|
rs1555515217
|
|
NM_004360.5(CDH1):c.484_485delinsT (p.Cys163fs)
|
|
|
NM_004360.5(CDH1):c.489C>A (p.Cys163Ter)
|
rs1064794230
|
|
NM_004360.5(CDH1):c.48G>A (p.Gln16=)
|
rs749591910
|
|
NM_004360.5(CDH1):c.49-1G>A
|
|
|
NM_004360.5(CDH1):c.49-1G>C
|
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
NM_004360.5(CDH1):c.497del (p.Asn166fs)
|
|
|
NM_004360.5(CDH1):c.497dup (p.Asn166fs)
|
|
|
NM_004360.5(CDH1):c.504del (p.Gly169fs)
|
rs864622655
|
|
NM_004360.5(CDH1):c.506del (p.Gly169fs)
|
|
|
NM_004360.5(CDH1):c.521del (p.Asn174fs)
|
|
|
NM_004360.5(CDH1):c.521dup (p.Asn174fs)
|
rs587781290
|
|
NM_004360.5(CDH1):c.52_53dup (p.Ser19fs)
|
rs1962455626
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
NM_004360.5(CDH1):c.537del (p.Lys179fs)
|
rs2152130050
|
|
NM_004360.5(CDH1):c.552_555del (p.Glu185fs)
|
rs2152130073
|
|
NM_004360.5(CDH1):c.553G>T (p.Glu185Ter)
|
|
|
NM_004360.5(CDH1):c.555del (p.Gly186fs)
|
rs2152130081
|
|
NM_004360.5(CDH1):c.55_74del (p.Ser19fs)
|
|
|
NM_004360.5(CDH1):c.570C>A (p.Tyr190Ter)
|
rs761753486
|
|
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
|
|
|
NM_004360.5(CDH1):c.586G>T (p.Gly196Ter)
|
|
|
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)
|
rs121964875
|
|
NM_004360.5(CDH1):c.602_603del (p.Pro201fs)
|
|
|
NM_004360.5(CDH1):c.602del (p.Pro201fs)
|
|
|
NM_004360.5(CDH1):c.602dup (p.Val202fs)
|
|
|
NM_004360.5(CDH1):c.603del (p.Val202fs)
|
rs1131690809
|
|
NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)
|
rs786203576
|
|
NM_004360.5(CDH1):c.60del (p.Trp20fs)
|
rs2152114347
|
|
NM_004360.5(CDH1):c.628G>T (p.Glu210Ter)
|
|
|
NM_004360.5(CDH1):c.631del (p.Thr211fs)
|
rs1597891145
|
|
NM_004360.5(CDH1):c.632_633del (p.Thr211fs)
|
|
|
NM_004360.5(CDH1):c.634G>T (p.Gly212Ter)
|
|
|
NM_004360.5(CDH1):c.638G>A (p.Trp213Ter)
|
|
|
NM_004360.5(CDH1):c.639G>A (p.Trp213Ter)
|
|
|
NM_004360.5(CDH1):c.639del (p.Trp213fs)
|
|
|
NM_004360.5(CDH1):c.640del (p.Trp213_Leu214insTer)
|
|
|
NM_004360.5(CDH1):c.641dup (p.Lys215fs)
|
|
|
NM_004360.5(CDH1):c.64_80del (p.Cys22fs)
|
|
|
NM_004360.5(CDH1):c.653_654del (p.Glu218fs)
|
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
NM_004360.5(CDH1):c.66C>A (p.Cys22Ter)
|
rs865838543
|
|
NM_004360.5(CDH1):c.67C>T (p.Gln23Ter)
|
rs1962456814
|
|
NM_004360.5(CDH1):c.687+1G>A
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+1G>C
|
rs1567504977
|
|
NM_004360.5(CDH1):c.687+2T>C
|
rs1555515297
|
|
NM_004360.5(CDH1):c.688-1G>C
|
|
|
NM_004360.5(CDH1):c.696_697del (p.His233fs)
|
rs1060501214
|
|
NM_004360.5(CDH1):c.696_750del (p.His233fs)
|
|
|
NM_004360.5(CDH1):c.698dup (p.His233fs)
|
|
|
NM_004360.5(CDH1):c.70G>T (p.Glu24Ter)
|
rs121964876
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004360.5(CDH1):c.717del (p.Asn240fs)
|
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
NM_004360.5(CDH1):c.737_760delinsGGGC (p.Met246fs)
|
|
|
NM_004360.5(CDH1):c.763C>T (p.Gln255Ter)
|
|
|
NM_004360.5(CDH1):c.76G>T (p.Glu26Ter)
|
rs786201058
|
|
NM_004360.5(CDH1):c.776del (p.Lys259fs)
|
|
|
NM_004360.5(CDH1):c.781G>T (p.Glu261Ter)
|
rs121964873
|
|
NM_004360.5(CDH1):c.793G>T (p.Glu265Ter)
|
rs876659503
|
|
NM_004360.5(CDH1):c.800_810del (p.Phe267fs)
|
rs1960785108
|
|
NM_004360.5(CDH1):c.807dup (p.Ser270fs)
|
|
|
NM_004360.5(CDH1):c.811_812delinsTTAAGGGATATA (p.Val271fs)
|
|
|
NM_004360.5(CDH1):c.817G>T (p.Glu273Ter)
|
|
|
NM_004360.5(CDH1):c.81del (p.Cys28fs)
|
|
|
NM_004360.5(CDH1):c.82del (p.Cys28fs)
|
rs1962457888
|
|
NM_004360.5(CDH1):c.830del (p.Pro277fs)
|
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
NM_004360.5(CDH1):c.832+1G>T
|
rs878854697
|
|
NM_004360.5(CDH1):c.833-2A>G
|
rs1555515596
|
|
NM_004360.5(CDH1):c.841_844del (p.Val281fs)
|
|
|
NM_004360.5(CDH1):c.846_847delinsTT (p.Met282_Glu283delinsIleTer)
|
|
|
NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)
|
|
|
NM_004360.5(CDH1):c.854_855del (p.Thr285fs)
|
|
|
NM_004360.5(CDH1):c.86dup (p.His29fs)
|
|
|
NM_004360.5(CDH1):c.878dup (p.Asn294fs)
|
|
|
NM_004360.5(CDH1):c.885del (p.Tyr296fs)
|
|
|
NM_004360.5(CDH1):c.888C>A (p.Tyr296Ter)
|
rs895188181
|
|
NM_004360.5(CDH1):c.888C>G (p.Tyr296Ter)
|
|
|
NM_004360.5(CDH1):c.907del (p.Thr303fs)
|
rs2152131991
|
|
NM_004360.5(CDH1):c.919C>T (p.Gln307Ter)
|
|
|
NM_004360.5(CDH1):c.935del (p.Pro312fs)
|
rs2152132050
|
|
NM_004360.5(CDH1):c.940A>T (p.Lys314Ter)
|
rs1131690820
|
|
NM_004360.5(CDH1):c.943_944del (p.Asn315fs)
|
rs2152132067
|
|
NM_004360.5(CDH1):c.943_946del (p.Asn315fs)
|
|
|
NM_004360.5(CDH1):c.944del (p.Asn315fs)
|
|
|
NM_004360.5(CDH1):c.968del (p.Thr323fs)
|
|
|
NM_004360.5(CDH1):c.970G>T (p.Gly324Ter)
|
|
|
NM_004360.5(CDH1):c.971del (p.Gly324fs)
|
|
|
NM_004360.5(CDH1):c.988dup (p.Thr330fs)
|
rs2152132139
|
|
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro)
|
rs121913469
|
|
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)
|
rs397516975
|
|
NM_004448.4(ERBB2):c.2328_2336dup (p.Val777_Ser779dup)
|
rs587776805
|
|
NM_004448.4(ERBB2):c.2606T>G (p.Leu869Arg)
|
rs1131692237
|
|
NM_004465.2(FGF10):c.*1093A>G
|
|
|
NM_004655.4(AXIN2):c.1994del (p.Gly665fs)
|
rs267606674
|
|
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter)
|
rs121908567
|
|
NM_004897.5(MINPP1):c.122C>T (p.Ser41Leu)
|
rs119486096
|
|
NM_004897.5(MINPP1):c.809A>G (p.Gln270Arg)
|
rs104894171
|
|
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
rs121913530
|
|
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)
|
rs121913530
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_005215.4(DCC):c.4124C>A (p.Pro1375His)
|
rs387906555
|
|
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del)
|
rs121913421
|
|
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg)
|
rs121434568
|
|
NM_005343.4(HRAS):c.179G>T (p.Gly60Val)
|
rs730880460
|
|
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)
|
rs28933406
|
|
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>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter)
|
rs2144427253
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)
|
rs121913286
|
|
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
|
rs121913286
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs)
|
rs587776802
|
|
NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter)
|
rs778238908
|
|
NM_006231.4(POLE):c.579-2A>G
|
rs2043088809
|
|
NM_007294.4(BRCA1):c.5194-1_5277+2del
|
rs2153353204
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_013988.2(PARK2):c.(8_8)_(171_171)+180544del
|
|
|
NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn)
|
rs137852869
|
|
NM_017583.6(TRIM44):c.463G>A (p.Gly155Arg)
|
rs886039241
|
|
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr)
|
rs797044990
|
|
NM_020975.4(RET):c.[2410G>A;2832C>G]
|
|
|
NM_020975.6(RET):c.1586_1594dup (p.Cys531_Gly532insGluGluCys)
|
rs377767434
|
|
NM_020975.6(RET):c.1597G>T (p.Gly533Cys)
|
rs75873440
|
|
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)
|
rs77558292
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>C (p.Cys620Ser)
|
rs77503355
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
|
rs75996173
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2735G>C (p.Arg912Pro)
|
rs78347871
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs)
|
rs1677132309
|
|
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter)
|
rs2103178097
|
|
NM_024529.5(CDC73):c.1052del (p.Pro351fs)
|
rs1553288362
|
|
NM_024529.5(CDC73):c.1055del (p.Asn352fs)
|
|
|
NM_024529.5(CDC73):c.10del (p.Val4fs)
|
rs2103111548
|
|
NM_024529.5(CDC73):c.1174_1178del (p.Lys392fs)
|
|
|
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)
|
rs1677688362
|
|
NM_024529.5(CDC73):c.1236dup (p.Gln413fs)
|
|
|
NM_024529.5(CDC73):c.1247del (p.Gly416fs)
|
rs1572215344
|
|
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)
|
rs121434263
|
|
NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs)
|
rs1558276082
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.131+1G>T
|
rs587776558
|
|
NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter)
|
|
|
NM_024529.5(CDC73):c.1397del (p.Pro466fs)
|
rs2102061886
|
|
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del)
|
rs587776561
|
|
NM_024529.5(CDC73):c.1405dup (p.Ile469fs)
|
rs1677757559
|
|
NM_024529.5(CDC73):c.1417dup (p.Ile473fs)
|
rs2102061912
|
|
NM_024529.5(CDC73):c.157G>T (p.Glu53Ter)
|
rs1675541893
|
|
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter)
|
rs121434265
|
|
NM_024529.5(CDC73):c.17del (p.Ser6fs)
|
|
|
NM_024529.5(CDC73):c.1A>G (p.Met1Val)
|
rs1558276054
|
|
NM_024529.5(CDC73):c.201del (p.His68fs)
|
rs2103114004
|
|
NM_024529.5(CDC73):c.220dup (p.Tyr74fs)
|
rs1572142597
|
|
NM_024529.5(CDC73):c.237+1G>A
|
rs794727303
|
|
NM_024529.5(CDC73):c.237+1G>C
|
rs794727303
|
|
NM_024529.5(CDC73):c.245del (p.Asn82fs)
|
rs1060500009
|
|
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.28C>T (p.Gln10Ter)
|
|
|
NM_024529.5(CDC73):c.2dup (p.Met1fs)
|
|
|
NM_024529.5(CDC73):c.331del (p.Ser111fs)
|
rs2103121472
|
|
NM_024529.5(CDC73):c.341T>A (p.Leu114Ter)
|
rs2103121496
|
|
NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)
|
|
|
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter)
|
rs886041278
|
|
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter)
|
rs1572150469
|
|
NM_024529.5(CDC73):c.35_41del (p.Asn12fs)
|
|
|
NM_024529.5(CDC73):c.375dup (p.Arg126fs)
|
rs1572150584
|
|
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter)
|
rs1553278844
|
|
NM_024529.5(CDC73):c.406A>T (p.Lys136Ter)
|
rs2103121703
|
|
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter)
|
rs2103121721
|
|
NM_024529.5(CDC73):c.423+1G>A
|
rs1131691732
|
|
NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)
|
|
|
NM_024529.5(CDC73):c.455_456del (p.Arg152fs)
|
rs1060500019
|
|
NM_024529.5(CDC73):c.483dup (p.Glu162fs)
|
rs1553279085
|
|
NM_024529.5(CDC73):c.496C>T (p.Gln166Ter)
|
rs2103123807
|
|
NM_024529.5(CDC73):c.4del (p.Ala2fs)
|
rs1060500020
|
|
NM_024529.5(CDC73):c.501_502del (p.Glu168fs)
|
rs2103123824
|
|
NM_024529.5(CDC73):c.505C>T (p.Gln169Ter)
|
rs1553279088
|
|
NM_024529.5(CDC73):c.510del (p.Arg171fs)
|
rs2103123828
|
|
NM_024529.5(CDC73):c.529_530dup (p.Met177fs)
|
|
|
NM_024529.5(CDC73):c.53_54del (p.Ile18fs)
|
rs1558276157
|
|
NM_024529.5(CDC73):c.56_57del (p.Val19fs)
|
|
|
NM_024529.5(CDC73):c.626_629del (p.Lys209fs)
|
rs2103126261
|
|
NM_024529.5(CDC73):c.628C>T (p.Gln210Ter)
|
rs2103126265
|
|
NM_024529.5(CDC73):c.64G>T (p.Gly22Ter)
|
rs1675465013
|
|
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.685_688del (p.Arg229fs)
|
rs760591174
|
|
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.69_70delinsTT (p.Glu24Ter)
|
|
|
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter)
|
rs1675915231
|
|
NM_024529.5(CDC73):c.701dup (p.Thr235fs)
|
|
|
NM_024529.5(CDC73):c.718del (p.Ser240fs)
|
rs1572154885
|
|
NM_024529.5(CDC73):c.7dup (p.Asp3fs)
|
rs1675462891
|
|
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)
|
rs2103130589
|
|
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter)
|
rs1131691698
|
|
NM_024529.5(CDC73):c.85del (p.Glu29fs)
|
rs587776560
|
|
NM_024529.5(CDC73):c.877dup (p.Tyr293fs)
|
rs2103132218
|
|
NM_024529.5(CDC73):c.878dup (p.Tyr293Ter)
|
rs2103132220
|
|
NM_024529.5(CDC73):c.893del (p.Phe298fs)
|
rs2103132250
|
|
NM_024529.5(CDC73):c.96del (p.Trp32fs)
|
|
|
NM_024529.5(CDC73):c.99del (p.Lys34fs)
|
|
|
NM_138711.6(PPARG):c.466del (p.Ser156fs)
|
rs587776687
|
|
NM_138711.6(PPARG):c.851A>C (p.Gln284Pro)
|
rs121909242
|
|
NM_138711.6(PPARG):c.949A>T (p.Lys317Ter)
|
rs121909243
|
|
NM_138761.4(BAX):c.121del (p.Glu41fs)
|
rs398122840
|
|
NM_138761.4(BAX):c.121dup (p.Glu41fs)
|
rs398122840
|
|
NM_144997.7(FLCN):c.1062+2T>G
|
rs886039370
|
|
NM_144997.7(FLCN):c.1277_1278delinsA (p.Ile426fs)
|
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp)
|
rs137852930
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala)
|
rs121908500
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.2004G>C (p.Glu668Asp)
|
rs1554040964
|
|
NM_198253.3(TERT):c.337dup (p.Glu113fs)
|
rs1554043088
|
|
PDGRL, 2-BP DEL
|
|
|
Single allele
|
|
|
m.3308T>C
|
rs28358582
|
|
nsv1067861
|
|
|
t(6;9)(q23.3;p22.3)
|
|
|
t(8;9)(q13.1;p22.3)
|
|
|