ClinVar Miner

List of variants reported as pathogenic for adenocarcinoma

Included ClinVar conditions (109):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1104
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HGVS dbSNP gnomAD frequency
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)

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