|
NM_000455.5(STK11):c.290+1G>A
|
rs1131690950
|
0.00001
|
|
NC_000019.10:g.(1207204_1218416)_(1219414_1220372)del
|
|
|
|
NC_000019.10:g.(?_1206914)_(1226647_?)del
|
|
|
|
NC_000019.10:g.(?_1218407)_(1222016_?)del
|
|
|
|
NC_000019.10:g.(?_1218407)_(1226647_?)del
|
|
|
|
NC_000019.10:g.(?_1218407)_(1226657_?)del
|
|
|
|
NC_000019.10:g.(?_1218417)_(1219413_?)del
|
|
|
|
NC_000019.10:g.(?_1221939)_(1222016_?)del
|
|
|
|
NC_000019.10:g.(?_1221949)_(1222006_?)del
|
|
|
|
NC_000019.10:g.1220380_1220381insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCCCGCAGGTACTTCT
|
|
|
|
NC_000019.9:g.(?_1206903)_(1207212_?)del
|
|
|
|
NC_000019.9:g.(?_1206907)_(1226652_?)del
|
|
|
|
NC_000019.9:g.(?_1206913)_(1207212_?)del
|
|
|
|
NC_000019.9:g.(?_1206913)_(1219422_?)del
|
|
|
|
NC_000019.9:g.(?_1206913)_(1223181_?)del
|
|
|
|
NC_000019.9:g.(?_1218406)_(1218509_?)del
|
|
|
|
NC_000019.9:g.(?_1218406)_(1219422_?)del
|
|
|
|
NC_000019.9:g.(?_1219313)_(1220726_?)del
|
|
|
|
NC_000019.9:g.(?_1219317)_(1221345_?)del
|
|
|
|
NC_000019.9:g.(?_1220366)_(1220510_?)del
|
|
|
|
NC_000019.9:g.(?_1221107)_(1227749_?)del
|
|
|
|
NC_000019.9:g.(?_1221202)_(1221349_?)del
|
|
|
|
NM_000455.4(STK11):c.-1115-?_290+?del
|
|
|
|
NM_000455.4(STK11):c.821delinsAC (p.Ile274fs)
|
rs1555738683
|
|
|
NM_000455.4(STK11):c.918_919delinsTCC (p.Ser307fs)
|
rs1555738899
|
|
|
NM_000455.5(STK11):c.105_106del (p.Tyr36fs)
|
rs1568689994
|
|
|
NM_000455.5(STK11):c.106del (p.Tyr36fs)
|
rs1131690924
|
|
|
NM_000455.5(STK11):c.107dup (p.Tyr36Ter)
|
|
|
|
NM_000455.5(STK11):c.108C>A (p.Tyr36Ter)
|
rs137853079
|
|
|
NM_000455.5(STK11):c.108C>G (p.Tyr36Ter)
|
rs137853079
|
|
|
NM_000455.5(STK11):c.109C>T (p.Gln37Ter)
|
rs121913324
|
|
|
NM_000455.5(STK11):c.109dup (p.Gln37fs)
|
rs2145404947
|
|
|
NM_000455.5(STK11):c.129del (p.Lys44fs)
|
rs1060499961
|
|
|
NM_000455.5(STK11):c.132dup (p.Leu45fs)
|
rs2145405064
|
|
|
NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis)
|
rs730881958
|
|
|
NM_000455.5(STK11):c.141dup (p.Lys48fs)
|
rs2145405118
|
|
|
NM_000455.5(STK11):c.145T>G (p.Tyr49Asp)
|
rs137853080
|
|
|
NM_000455.5(STK11):c.145dup (p.Tyr49fs)
|
rs2145405146
|
|
|
NM_000455.5(STK11):c.152dup (p.Met51fs)
|
rs1568690161
|
|
|
NM_000455.5(STK11):c.156_157del (p.Asp53fs)
|
rs1131690917
|
|
|
NM_000455.5(STK11):c.156_157dup (p.Asp53fs)
|
|
|
|
NM_000455.5(STK11):c.157del (p.Asp53fs)
|
|
|
|
NM_000455.5(STK11):c.157dup (p.Asp53fs)
|
rs1131690917
|
|
|
NM_000455.5(STK11):c.158dup (p.Asp53fs)
|
|
|
|
NM_000455.5(STK11):c.169G>T (p.Glu57Ter)
|
rs137854584
|
|
|
NM_000455.5(STK11):c.169dup (p.Glu57fs)
|
rs121913319
|
|
|
NM_000455.5(STK11):c.178dup (p.Tyr60fs)
|
|
|
|
NM_000455.5(STK11):c.179_180dup (p.Gly61fs)
|
rs1555735001
|
|
|
NM_000455.5(STK11):c.179_180insAA (p.Tyr60Ter)
|
rs876661012
|
|
|
NM_000455.5(STK11):c.179dup (p.Tyr60Ter)
|
rs876661012
|
|
|
NM_000455.5(STK11):c.180C>A (p.Tyr60Ter)
|
rs778376925
|
|
|
NM_000455.5(STK11):c.180C>G (p.Tyr60Ter)
|
rs778376925
|
|
|
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer)
|
rs1555735008
|
|
|
NM_000455.5(STK11):c.195_198del (p.Glu65fs)
|
rs1131690936
|
|
|
NM_000455.5(STK11):c.197_225del (p.Val66fs)
|
rs1599915131
|
|
|
NM_000455.5(STK11):c.197dup (p.Leu67fs)
|
rs397518441
|
|
|
NM_000455.5(STK11):c.199del (p.Leu67fs)
|
rs1555735014
|
|
|
NM_000455.5(STK11):c.19C>T (p.Gln7Ter)
|
rs2080669968
|
|
|
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)
|
rs137853077
|
|
|
NM_000455.5(STK11):c.209dup (p.Thr71fs)
|
rs1131690929
|
|
|
NM_000455.5(STK11):c.218_230del (p.Cys73fs)
|
rs730881959
|
|
|
NM_000455.5(STK11):c.242del (p.Lys81fs)
|
rs1599915235
|
|
|
NM_000455.5(STK11):c.246del (p.Lys83fs)
|
|
|
|
NM_000455.5(STK11):c.250A>T (p.Lys84Ter)
|
rs137853076
|
|
|
NM_000455.5(STK11):c.256C>T (p.Arg86Ter)
|
rs1057520039
|
|
|
NM_000455.5(STK11):c.256del (p.Arg86fs)
|
|
|
|
NM_000455.5(STK11):c.261_262dup (p.Ile88fs)
|
rs2080673271
|
|
|
NM_000455.5(STK11):c.267del (p.Asn90fs)
|
|
|
|
NM_000455.5(STK11):c.288_289dup (p.Lys97fs)
|
rs2080673579
|
|
|
NM_000455.5(STK11):c.289A>T (p.Lys97Ter)
|
rs2080673604
|
|
|
NM_000455.5(STK11):c.290+1G>C
|
rs1131690950
|
|
|
NM_000455.5(STK11):c.290+1G>T
|
rs1131690950
|
|
|
NM_000455.5(STK11):c.290+2T>A
|
|
|
|
NM_000455.5(STK11):c.291-1G>A
|
rs112675807
|
|
|
NM_000455.5(STK11):c.291-1G>C
|
rs112675807
|
|
|
NM_000455.5(STK11):c.291-1G>T
|
rs112675807
|
|
|
NM_000455.5(STK11):c.291-2A>C
|
rs876658584
|
|
|
NM_000455.5(STK11):c.291-2A>G
|
rs876658584
|
|
|
NM_000455.5(STK11):c.29dup (p.Met11fs)
|
rs2145404496
|
|
|
NM_000455.5(STK11):c.314T>G (p.Leu105Ter)
|
rs2080758521
|
|
|
NM_000455.5(STK11):c.326del (p.Asn109fs)
|
rs886041996
|
|
|
NM_000455.5(STK11):c.328del (p.Val110fs)
|
rs2145420680
|
|
|
NM_000455.5(STK11):c.332_333insG (p.Ile111fs)
|
rs2145420699
|
|
|
NM_000455.5(STK11):c.332del (p.Ile111fs)
|
|
|
|
NM_000455.5(STK11):c.334C>T (p.Gln112Ter)
|
rs771049807
|
|
|
NM_000455.5(STK11):c.347_350dup (p.Leu117fs)
|
rs2145420751
|
|
|
NM_000455.5(STK11):c.350del (p.Leu117fs)
|
rs2145420765
|
|
|
NM_000455.5(STK11):c.354C>G (p.Tyr118Ter)
|
rs1555737439
|
|
|
NM_000455.5(STK11):c.354_362del (p.Tyr118_Glu121delinsTer)
|
rs2145420792
|
|
|
NM_000455.5(STK11):c.357del (p.Asn119fs)
|
rs1555737444
|
|
|
NM_000455.5(STK11):c.358G>T (p.Glu120Ter)
|
rs775595174
|
|
|
NM_000455.5(STK11):c.363_367dup (p.Gln123fs)
|
rs1131690933
|
|
|
NM_000455.5(STK11):c.367C>T (p.Gln123Ter)
|
rs1131690925
|
|
|
NM_000455.5(STK11):c.373dup (p.Met125fs)
|
rs1131690952
|
|
|
NM_000455.5(STK11):c.374+1A>G
|
rs1131690951
|
|
|
NM_000455.5(STK11):c.374+2T>A
|
|
|
|
NM_000455.5(STK11):c.375del (p.Met125fs)
|
|
|
|
NM_000455.5(STK11):c.385del (p.Met129fs)
|
|
|
|
NM_000455.5(STK11):c.388G>T (p.Glu130Ter)
|
rs1599925303
|
|
|
NM_000455.5(STK11):c.393C>G (p.Tyr131Ter)
|
rs760399253
|
|
|
NM_000455.5(STK11):c.394del (p.Cys132fs)
|
rs864622707
|
|
|
NM_000455.5(STK11):c.396C>A (p.Cys132Ter)
|
rs730881969
|
|
|
NM_000455.5(STK11):c.402_403del (p.Cys134fs)
|
rs587782424
|
|
|
NM_000455.5(STK11):c.403G>C (p.Gly135Arg)
|
rs137853081
|
|
|
NM_000455.5(STK11):c.407T>C (p.Met136Thr)
|
rs1060499958
|
|
|
NM_000455.5(STK11):c.409C>T (p.Gln137Ter)
|
rs730881970
|
|
|
NM_000455.5(STK11):c.418_420del (p.Leu140del)
|
rs1599925362
|
|
|
NM_000455.5(STK11):c.418del (p.Leu140fs)
|
rs397518440
|
|
|
NM_000455.5(STK11):c.419T>C (p.Leu140Pro)
|
rs1555737790
|
|
|
NM_000455.5(STK11):c.429_441del (p.Pro144fs)
|
rs2145422371
|
|
|
NM_000455.5(STK11):c.432_454dup (p.Gln152fs)
|
|
|
|
NM_000455.5(STK11):c.440_441del (p.Arg147fs)
|
rs1555737814
|
|
|
NM_000455.5(STK11):c.446del (p.Pro149fs)
|
rs1131690926
|
|
|
NM_000455.5(STK11):c.454C>T (p.Gln152Ter)
|
rs2145422504
|
|
|
NM_000455.5(STK11):c.462dup (p.Gly155fs)
|
|
|
|
NM_000455.5(STK11):c.464+1G>A
|
rs730881971
|
|
|
NM_000455.5(STK11):c.464+1G>T
|
rs730881971
|
|
|
NM_000455.5(STK11):c.464+1dup
|
rs2145422531
|
|
|
NM_000455.5(STK11):c.465-1G>A
|
rs587776658
|
|
|
NM_000455.5(STK11):c.468C>G (p.Tyr156Ter)
|
rs786201349
|
|
|
NM_000455.5(STK11):c.471_472del (p.Phe157fs)
|
|
|
|
NM_000455.5(STK11):c.475C>T (p.Gln159Ter)
|
|
|
|
NM_000455.5(STK11):c.479_489del (p.Leu160fs)
|
|
|
|
NM_000455.5(STK11):c.487_490del (p.Gly163fs)
|
|
|
|
NM_000455.5(STK11):c.487_490dup (p.Leu164fs)
|
rs2145424194
|
|
|
NM_000455.5(STK11):c.488G>A (p.Gly163Asp)
|
rs137853078
|
|
|
NM_000455.5(STK11):c.494del (p.Glu165fs)
|
|
|
|
NM_000455.5(STK11):c.497_500dup (p.His168fs)
|
rs1131690922
|
|
|
NM_000455.5(STK11):c.498C>G (p.Tyr166Ter)
|
rs1555738205
|
|
|
NM_000455.5(STK11):c.508C>T (p.Gln170Ter)
|
rs121913323
|
|
|
NM_000455.5(STK11):c.525_532dup (p.Lys178fs)
|
rs1555738219
|
|
|
NM_000455.5(STK11):c.526G>A (p.Asp176Asn)
|
rs730881979
|
|
|
NM_000455.5(STK11):c.526del (p.Asp176fs)
|
rs1599926521
|
|
|
NM_000455.5(STK11):c.536C>G (p.Pro179Arg)
|
|
|
|
NM_000455.5(STK11):c.540del (p.Asn181fs)
|
rs1131690939
|
|
|
NM_000455.5(STK11):c.540dup (p.Asn181fs)
|
rs1131690939
|
|
|
NM_000455.5(STK11):c.541_542dup (p.Asn181fs)
|
|
|
|
NM_000455.5(STK11):c.542A>G (p.Asn181Ser)
|
rs886037859
|
|
|
NM_000455.5(STK11):c.543C>G (p.Asn181Lys)
|
rs730881973
|
|
|
NM_000455.5(STK11):c.574del (p.Ile192fs)
|
rs587781856
|
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
|
NM_000455.5(STK11):c.580G>T (p.Asp194Tyr)
|
rs121913315
|
|
|
NM_000455.5(STK11):c.582_596del (p.Asp194_Ala198del)
|
rs2145424620
|
|
|
NM_000455.5(STK11):c.583del (p.Leu195fs)
|
rs2145424635
|
|
|
NM_000455.5(STK11):c.597+1G>A
|
|
|
|
NM_000455.5(STK11):c.597+1G>T
|
rs886039554
|
|
|
NM_000455.5(STK11):c.597+2T>A
|
rs2145424716
|
|
|
NM_000455.5(STK11):c.598-1G>A
|
rs1555738319
|
|
|
NM_000455.5(STK11):c.598-2A>C
|
rs1131690934
|
|
|
NM_000455.5(STK11):c.598-2A>G
|
rs1131690934
|
|
|
NM_000455.5(STK11):c.602_606del (p.Leu201fs)
|
|
|
|
NM_000455.5(STK11):c.608_627del (p.Pro203fs)
|
rs2145425021
|
|
|
NM_000455.5(STK11):c.608dup (p.Phe204fs)
|
rs1131690946
|
|
|
NM_000455.5(STK11):c.614_618del (p.Ala205fs)
|
rs2080776017
|
|
|
NM_000455.5(STK11):c.62dup (p.Met22fs)
|
|
|
|
NM_000455.5(STK11):c.630C>A (p.Cys210Ter)
|
rs786201213
|
|
|
NM_000455.5(STK11):c.640C>T (p.Gln214Ter)
|
rs1131690923
|
|
|
NM_000455.5(STK11):c.640_653del (p.Gln214fs)
|
rs2145425162
|
|
|
NM_000455.5(STK11):c.645del (p.Ser216fs)
|
|
|
|
NM_000455.5(STK11):c.646dup (p.Ser216fs)
|
|
|
|
NM_000455.5(STK11):c.650del (p.Pro217fs)
|
rs397518442
|
|
|
NM_000455.5(STK11):c.658C>T (p.Gln220Ter)
|
rs1131690940
|
|
|
NM_000455.5(STK11):c.663_675del (p.Pro222fs)
|
|
|
|
NM_000455.5(STK11):c.669_670del (p.Glu223fs)
|
rs2145425286
|
|
|
NM_000455.5(STK11):c.671_920+333del
|
|
|
|
NM_000455.5(STK11):c.677del (p.Asn226fs)
|
|
|
|
NM_000455.5(STK11):c.67del (p.Asp23fs)
|
rs1555734904
|
|
|
NM_000455.5(STK11):c.694_695del (p.Ser232fs)
|
rs2080776848
|
|
|
NM_000455.5(STK11):c.715_719dup (p.Ala241fs)
|
|
|
|
NM_000455.5(STK11):c.716G>A (p.Trp239Ter)
|
rs730881975
|
|
|
NM_000455.5(STK11):c.717G>A (p.Trp239Ter)
|
rs137853082
|
|
|
NM_000455.5(STK11):c.717G>C (p.Trp239Cys)
|
rs137853082
|
|
|
NM_000455.5(STK11):c.718_721del (p.Ser240fs)
|
rs587776657
|
|
|
NM_000455.5(STK11):c.719C>A (p.Ser240Ter)
|
rs730881976
|
|
|
NM_000455.5(STK11):c.724G>A (p.Gly242Arg)
|
rs878853992
|
|
|
NM_000455.5(STK11):c.727del (p.Val243fs)
|
rs1555738475
|
|
|
NM_000455.5(STK11):c.734+1G>A
|
rs587782018
|
|
|
NM_000455.5(STK11):c.734+1G>C
|
rs587782018
|
|
|
NM_000455.5(STK11):c.734+1G>T
|
rs587782018
|
|
|
NM_000455.5(STK11):c.734+5G>A
|
|
|
|
NM_000455.5(STK11):c.735-10C>A
|
|
|
|
NM_000455.5(STK11):c.735-1G>A
|
rs1057517830
|
|
|
NM_000455.5(STK11):c.735-6A>G
|
rs2145426686
|
|
|
NM_000455.5(STK11):c.738C>G (p.Tyr246Ter)
|
rs137853083
|
|
|
NM_000455.5(STK11):c.748del (p.Thr250fs)
|
|
|
|
NM_000455.5(STK11):c.752del (p.Gly251fs)
|
rs1131690948
|
|
|
NM_000455.5(STK11):c.755_758dup (p.Pro254fs)
|
rs1599927564
|
|
|
NM_000455.5(STK11):c.759C>A (p.Tyr253Ter)
|
rs137853075
|
|
|
NM_000455.5(STK11):c.759C>G (p.Tyr253Ter)
|
|
|
|
NM_000455.5(STK11):c.762dup (p.Phe255fs)
|
rs1599927573
|
|
|
NM_000455.5(STK11):c.766G>T (p.Glu256Ter)
|
rs1057520606
|
|
|
NM_000455.5(STK11):c.772del (p.Asp258fs)
|
rs1599927589
|
|
|
NM_000455.5(STK11):c.784A>T (p.Lys262Ter)
|
rs2145426930
|
|
|
NM_000455.5(STK11):c.788T>A (p.Leu263Ter)
|
rs1226608647
|
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NM_000455.5(STK11):c.790_793del (p.Phe264fs)
|
rs121913320
|
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NM_000455.5(STK11):c.792_793insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGTGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAAGTTGTTT (p.Glu265delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuLeuThrSerTer)
|
rs2145426910
|
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NM_000455.5(STK11):c.792del (p.Phe264fs)
|
rs1599927622
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NM_000455.5(STK11):c.795_796dup (p.Asn266fs)
|
rs1555738656
|
|
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NM_000455.5(STK11):c.806del (p.Lys269fs)
|
rs1599927645
|
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NM_000455.5(STK11):c.811_812del (p.Ser271fs)
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|
|
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NM_000455.5(STK11):c.812del (p.Ser271fs)
|
rs2145427067
|
|
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NM_000455.5(STK11):c.815dup (p.Tyr272Ter)
|
|
|
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NM_000455.5(STK11):c.816C>A (p.Tyr272Ter)
|
|
|
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NM_000455.5(STK11):c.816C>G (p.Tyr272Ter)
|
rs9282859
|
|
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NM_000455.5(STK11):c.816del (p.Ser271_Tyr272insTer)
|
rs1555738667
|
|
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NM_000455.5(STK11):c.824del (p.Pro275fs)
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|
|
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NM_000455.5(STK11):c.827del (p.Gly276fs)
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|
|
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NM_000455.5(STK11):c.82dup (p.Arg28fs)
|
rs1568689930
|
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NM_000455.5(STK11):c.830_836dup (p.Pro280fs)
|
rs1599927689
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|
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NM_000455.5(STK11):c.834_835del (p.Cys278fs)
|
rs587776659
|
|
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NM_000455.5(STK11):c.834_858del (p.Asp277_Cys278insTer)
|
|
|
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NM_000455.5(STK11):c.841_842del (p.Pro281fs)
|
rs121913321
|
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NM_000455.5(STK11):c.841_842dup (p.Leu282fs)
|
rs121913321
|
|
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NM_000455.5(STK11):c.842del (p.Pro281fs)
|
rs121913321
|
|
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NM_000455.5(STK11):c.842dup (p.Leu282fs)
|
rs121913321
|
|
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NM_000455.5(STK11):c.843del (p.Leu282fs)
|
rs587776656
|
|
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NM_000455.5(STK11):c.843dup (p.Leu282fs)
|
rs1131690949
|
|
|
NM_000455.5(STK11):c.844dup (p.Leu282fs)
|
rs786205864
|
|
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NM_000455.5(STK11):c.84_97dup (p.Glu33fs)
|
rs2080670808
|
|
|
NM_000455.5(STK11):c.862+1G>A
|
|
|
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NM_000455.5(STK11):c.862+1G>T
|
rs1131690921
|
|
|
NM_000455.5(STK11):c.863-2_863-1del
|
rs2080787333
|
|
|
NM_000455.5(STK11):c.869T>C (p.Leu290Pro)
|
rs1057524439
|
|
|
NM_000455.5(STK11):c.876C>G (p.Tyr292Ter)
|
rs148928808
|
|
|
NM_000455.5(STK11):c.876del (p.Glu291_Tyr292insTer)
|
rs1131690947
|
|
|
NM_000455.5(STK11):c.877G>T (p.Glu293Ter)
|
rs398123405
|
|
|
NM_000455.5(STK11):c.884_888del (p.Ala295fs)
|
rs1555738863
|
|
|
NM_000455.5(STK11):c.885del (p.Lys296fs)
|
|
|
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NM_000455.5(STK11):c.886A>T (p.Lys296Ter)
|
|
|
|
NM_000455.5(STK11):c.889_890del (p.Arg297fs)
|
rs2145428733
|
|
|
NM_000455.5(STK11):c.890G>A (p.Arg297Lys)
|
rs1568710381
|
|
|
NM_000455.5(STK11):c.891G>T (p.Arg297Ser)
|
rs730881984
|
|
|
NM_000455.5(STK11):c.891del (p.Arg297fs)
|
rs587776661
|
|
|
NM_000455.5(STK11):c.895_901dup (p.Arg301fs)
|
rs1555738874
|
|
|
NM_000455.5(STK11):c.897_905del (p.300IRQ[1])
|
|
|
|
NM_000455.5(STK11):c.898ATCCGGCAG[1] (p.300IRQ[1])
|
rs2145428787
|
|
|
NM_000455.5(STK11):c.899del (p.Ile300fs)
|
rs786203624
|
|
|
NM_000455.5(STK11):c.901del (p.Arg301fs)
|
|
|
|
NM_000455.5(STK11):c.904C>T (p.Gln302Ter)
|
rs1085307466
|
|
|
NM_000455.5(STK11):c.908_916del (p.Ile303_His306delinsAsn)
|
rs587776660
|
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
|
NM_000455.5(STK11):c.910del (p.Arg304fs)
|
rs1064793427
|
|
|
NM_000455.5(STK11):c.911G>C (p.Arg304Pro)
|
rs376280361
|
|
|
NM_000455.5(STK11):c.913C>T (p.Gln305Ter)
|
rs1131690945
|
|
|
NM_000455.5(STK11):c.915_920+5delinsCATCCGGCAGATCCGGCAGATGCCGGCAGATCCGGCAGATCCGGCAGATC
|
|
|
|
NM_000455.5(STK11):c.916C>T (p.His306Tyr)
|
rs2145428869
|
|
|
NM_000455.5(STK11):c.920+1G>A
|
rs1131690920
|
|
|
NM_000455.5(STK11):c.920+1del
|
rs1599928360
|
|
|
NM_000455.5(STK11):c.921-12G>A
|
rs2145430551
|
|
|
NM_000455.5(STK11):c.921-1G>A
|
|
|
|
NM_000455.5(STK11):c.921-1G>C
|
rs398123406
|
|
|
NM_000455.5(STK11):c.921-1G>T
|
rs398123406
|
|
|
NM_000455.5(STK11):c.921-2A>C
|
rs727504172
|
|
|
NM_000455.5(STK11):c.921-2A>T
|
rs727504172
|
|
|
NM_000455.5(STK11):c.922_931delinsCC (p.Trp308fs)
|
rs1599929258
|
|
|
NM_000455.5(STK11):c.923G>A (p.Trp308Ter)
|
rs864622488
|
|
|
NM_000455.5(STK11):c.924G>T (p.Trp308Cys)
|
|
|
|
NM_000455.5(STK11):c.930del (p.Lys311fs)
|
rs1599929264
|
|
|
NM_000455.5(STK11):c.933del (p.Lys312fs)
|
rs2080795769
|
|
|
NM_000455.5(STK11):c.935_936del (p.Lys312fs)
|
rs397518443
|
|
|
NM_000455.5(STK11):c.936del (p.Lys312fs)
|
rs397518443
|
|
|
NM_000455.5(STK11):c.93dup (p.Thr32fs)
|
rs1131690930
|
|
|
NM_000455.5(STK11):c.940_941del (p.Pro314fs)
|
rs2145430693
|
|
|
NM_000455.5(STK11):c.954_956delinsCCAGGTGGGA (p.Pro319fs)
|
rs2080796043
|
|
|
NM_000455.5(STK11):c.961_962delinsT (p.Pro321fs)
|
|
|
|
NM_000455.5(STK11):c.964del (p.Ile322fs)
|
rs1599929335
|
|
|
NM_000455.5(STK11):c.965del (p.Ile322fs)
|
|
|
|
NM_000455.5(STK11):c.965dup (p.Pro324fs)
|
rs1599929339
|
|
|
STK11, EX4-5DEL/EX6-7INV
|
|
|