| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
| 17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
| 17 | g.7674218_7674967del | CA645588534 | TP53 | c.569_750del c.173_354del c.290_471del c.548_729del c.452_633del c.92_273del c.536_717del | COSMIC COSMIC COSMIC |
| 17 | g.7674861_7676624dup | CA2573130640 | TP53 | c.-28_672dup c.-21-1386_276dup c.-28_393dup c.-28_651dup c.-25-3_672dup n.112_928dup c.-262_555dup c.-145_555dup c.-142-3_555dup | ClinVar |
| 17 | g.7674875_7674976dup | CA2580094939 | TP53 | c.560-3_658dup c.164-3_262dup c.281-3_379dup c.539-3_637dup n.816-3_914dup n.67+79_67+180dup c.443-3_541dup c.83-3_181dup c.527-3_625dup | ClinVar |
| 17 | g.7674885_7674914del | CA645588737 | TP53 | c.620_649del (p.Asp207_Val216del) c.224_253del (p.Asp75_Val84del) c.341_370del (p.Asp114_Val123del) c.599_628del (p.Asp200_Val209del) n.876_905del n.67+142_67+171del c.503_532del (p.Asp168_Val177del) c.143_172del (p.Asp48_Val57del) c.587_616del (p.Asp196_Val205del) | COSMIC |
| 17 | g.7674891_7674932del | CA645588748 | TP53 | c.601_642del (p.Leu201_His214del) c.205_246del (p.Leu69_His82del) c.322_363del (p.Leu108_His121del) c.580_621del (p.Leu194_His207del) n.857_898del n.67+123_67+164del c.484_525del (p.Leu162_His175del) c.124_165del (p.Leu42_His55del) c.568_609del (p.Leu190_His203del) | COSMIC |
| 17 | g.7674892_7674912del | CA645588752 | TP53 | c.619_639del (p.Asp207_Arg213del) c.223_243del (p.Asp75_Arg81del) c.340_360del (p.Asp114_Arg120del) c.598_618del (p.Asp200_Arg206del) n.875_895del n.67+141_67+161del c.502_522del (p.Asp168_Arg174del) c.142_162del (p.Asp48_Arg54del) c.586_606del (p.Asp196_Arg202del) | COSMIC |
| 17 | g.7674895_7674933dup | CA2245954579 | TP53 | c.598_636dup (p.Phe212_Arg213insAsnLeuArgValGluTyrLeuAspAspArgAsnThrPhe) c.202_240dup (p.Phe80_Arg81insAsnLeuArgValGluTyrLeuAspAspArgAsnThrPhe) c.319_357dup (p.Phe119_Arg120insAsnLeuArgValGluTyrLeuAspAspArgAsnThrPhe) c.577_615dup (p.Phe205_Arg206insAsnLeuArgValGluTyrLeuAspAspArgAsnThrPhe) n.854_892dup n.67+120_67+158dup c.481_519dup (p.Phe173_Arg174insAsnLeuArgValGluTyrLeuAspAspArgAsnThrPhe) c.121_159dup (p.Phe53_Arg54insAsnLeuArgValGluTyrLeuAspAspArgAsnThrPhe) c.565_603dup (p.Phe201_Arg202insAsnLeuArgValGluTyrLeuAspAspArgAsnThrPhe) | ClinVar dbSNP |
| 17 | g.7674899_7674947del | CA645588763 | TP53 | c.585_633del (p.Arg196PhefsTer?) c.189_237del (p.Arg64PhefsTer?) c.306_354del (p.Arg103PhefsTer?) c.564_612del (p.Arg189PhefsTer?) n.841_889del n.67+107_67+155del c.468_516del (p.Arg157PhefsTer?) c.108_156del (p.Arg37PhefsTer?) c.552_600del (p.Arg185PhefsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674899_7674924del | CA2733136428 | TP53 | c.607_632del (p.Val203PhefsTer4) c.211_236del (p.Val71PhefsTer4) c.328_353del (p.Val110PhefsTer4) c.586_611del (p.Val196PhefsTer4) n.863_888del n.67+129_67+154del c.490_515del (p.Val164PhefsTer4) c.130_155del (p.Val44PhefsTer4) c.574_599del (p.Val192PhefsTer4) | dbSNP |
| 17 | g.7674901_7674921del | CA645588768 | TP53 | c.610_630del (p.Glu204_Asn210del) c.214_234del (p.Glu72_Asn78del) c.331_351del (p.Glu111_Asn117del) c.589_609del (p.Glu197_Asn203del) n.866_886del n.67+132_67+152del c.493_513del (p.Glu165_Asn171del) c.133_153del (p.Glu45_Asn51del) c.577_597del (p.Glu193_Asn199del) | COSMIC |
| 17 | g.7674905_7674917del | CA2695201733 | TP53 | c.615_627del (p.Tyr205Ter) c.219_231del (p.Tyr73Ter) c.336_348del (p.Tyr112Ter) c.594_606del (p.Tyr198Ter) n.871_883del n.67+137_67+149del c.498_510del (p.Tyr166Ter) c.138_150del (p.Tyr46Ter) c.582_594del (p.Tyr194Ter) | |
| 17 | g.7674906_7674913del | CA645588774 | TP53 | c.619_626del (p.Asp207LysfsTer6) c.223_230del (p.Asp75LysfsTer6) c.340_347del (p.Asp114LysfsTer6) c.598_605del (p.Asp200LysfsTer6) n.875_882del n.67+141_67+148del c.502_509del (p.Asp168LysfsTer6) c.142_149del (p.Asp48LysfsTer6) c.586_593del (p.Asp196LysfsTer6) | COSMIC |
| 17 | g.7674911_7674923del | CA645588776 | TP53 | c.610_622del (p.Glu204ThrfsTer?) c.214_226del (p.Glu72ThrfsTer?) c.331_343del (p.Glu111ThrfsTer?) c.589_601del (p.Glu197ThrfsTer?) n.866_878del n.67+132_67+144del c.493_505del (p.Glu165ThrfsTer?) c.133_145del (p.Glu45ThrfsTer?) c.577_589del (p.Glu193ThrfsTer?) | COSMIC |
| 17 | g.7674912C>A | CA397840252 | TP53 | c.619G>T (p.Asp207Tyr) c.223G>T (p.Asp75Tyr) c.340G>T (p.Asp114Tyr) c.598G>T (p.Asp200Tyr) n.875G>T n.67+141G>T c.502G>T (p.Asp168Tyr) c.142G>T (p.Asp48Tyr) c.586G>T (p.Asp196Tyr) | dbSNP COSMIC |
| 17 | g.7674912C= | CA2245954705 | TP53 | c.619G= (p.Asp207=) c.223G= (p.Asp75=) c.340G= (p.Asp114=) c.598G= (p.Asp200=) n.875G= n.67+141G= c.502G= (p.Asp168=) c.142G= (p.Asp48=) c.586G= (p.Asp196=) | |
| 17 | g.7674912C>G | CA397840248 | TP53 | c.619G>C (p.Asp207His) c.223G>C (p.Asp75His) c.340G>C (p.Asp114His) c.598G>C (p.Asp200His) n.875G>C n.67+141G>C c.502G>C (p.Asp168His) c.142G>C (p.Asp48His) c.586G>C (p.Asp196His) | ClinVar dbSNP |
| 17 | g.7674912C>T | CA287488336 | TP53 | c.619G>A (p.Asp207Asn) c.223G>A (p.Asp75Asn) c.340G>A (p.Asp114Asn) c.598G>A (p.Asp200Asn) n.875G>A n.67+141G>A c.502G>A (p.Asp168Asn) c.142G>A (p.Asp48Asn) c.586G>A (p.Asp196Asn) | ClinVar dbSNP |
| 17 | g.7674912_7674913insAA | CA645588777 | TP53 | c.618_619insTT (p.Asp207LeufsTer?) c.222_223insTT (p.Asp75LeufsTer?) c.339_340insTT (p.Asp114LeufsTer?) c.597_598insTT (p.Asp200LeufsTer?) n.874_875insTT n.67+140_67+141insTT c.501_502insTT (p.Asp168LeufsTer?) c.141_142insTT (p.Asp48LeufsTer?) c.585_586insTT (p.Asp196LeufsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674913C>A | CA397840253 | TP53 | c.618G>T (p.Leu206Phe) c.222G>T (p.Leu74Phe) c.339G>T (p.Leu113Phe) c.597G>T (p.Leu199Phe) n.874G>T n.67+140G>T c.501G>T (p.Leu167Phe) c.141G>T (p.Leu47Phe) c.585G>T (p.Leu195Phe) | |
| 17 | g.7674913C= | CA2245954711 | TP53 | c.618G= (p.Leu206=) c.222G= (p.Leu74=) c.339G= (p.Leu113=) c.597G= (p.Leu199=) n.874G= n.67+140G= c.501G= (p.Leu167=) c.141G= (p.Leu47=) c.585G= (p.Leu195=) | |
| 17 | g.7674913C>G | CA397840254 | TP53 | c.618G>C (p.Leu206Phe) c.222G>C (p.Leu74Phe) c.339G>C (p.Leu113Phe) c.597G>C (p.Leu199Phe) n.874G>C n.67+140G>C c.501G>C (p.Leu167Phe) c.141G>C (p.Leu47Phe) c.585G>C (p.Leu195Phe) | COSMIC |
| 17 | g.7674913C>T | CA000299 | TP53 | c.618G>A (p.Leu206=) c.222G>A (p.Leu74=) c.339G>A (p.Leu113=) c.597G>A (p.Leu199=) n.874G>A n.67+140G>A c.501G>A (p.Leu167=) c.141G>A (p.Leu47=) c.585G>A (p.Leu195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7674914A= | CA2245954719 | TP53 | c.617T= (p.Leu206=) c.221T= (p.Leu74=) c.338T= (p.Leu113=) c.596T= (p.Leu199=) n.873T= n.67+139T= c.500T= (p.Leu167=) c.140T= (p.Leu47=) c.584T= (p.Leu195=) | |
| 17 | g.7674914A>C | CA397840261 | TP53 | c.617T>G (p.Leu206Trp) c.221T>G (p.Leu74Trp) c.338T>G (p.Leu113Trp) c.596T>G (p.Leu199Trp) n.873T>G n.67+139T>G c.500T>G (p.Leu167Trp) c.140T>G (p.Leu47Trp) c.584T>G (p.Leu195Trp) | ClinVar gnomAD v4 |
| 17 | g.7674914A>G | CA397840264 | TP53 | c.617T>C (p.Leu206Ser) c.221T>C (p.Leu74Ser) c.338T>C (p.Leu113Ser) c.596T>C (p.Leu199Ser) n.873T>C n.67+139T>C c.500T>C (p.Leu167Ser) c.140T>C (p.Leu47Ser) c.584T>C (p.Leu195Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7674914A>T | CA397840269 | TP53 | c.617T>A (p.Leu206Ter) c.221T>A (p.Leu74Ter) c.338T>A (p.Leu113Ter) c.596T>A (p.Leu199Ter) n.873T>A n.67+139T>A c.500T>A (p.Leu167Ter) c.140T>A (p.Leu47Ter) c.584T>A (p.Leu195Ter) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674915_7674916dup | CA645588778 | TP53 | c.616_617dup (p.Leu206PhefsTer?) c.220_221dup (p.Leu74PhefsTer?) c.337_338dup (p.Leu113PhefsTer?) c.595_596dup (p.Leu199PhefsTer?) n.872_873dup n.67+138_67+139dup c.499_500dup (p.Leu167PhefsTer?) c.139_140dup (p.Leu47PhefsTer?) c.583_584dup (p.Leu195PhefsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674916del | CA497925320 | TP53 | c.617del (p.Leu206TrpfsTer?) c.221del (p.Leu74TrpfsTer?) c.338del (p.Leu113TrpfsTer?) c.596del (p.Leu199TrpfsTer?) n.873del n.67+139del c.500del (p.Leu167TrpfsTer?) c.140del (p.Leu47TrpfsTer?) c.584del (p.Leu195TrpfsTer?) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674915A= | CA2245954724 | TP53 | c.616T= (p.Leu206=) c.220T= (p.Leu74=) c.337T= (p.Leu113=) c.595T= (p.Leu199=) n.872T= n.67+138T= c.499T= (p.Leu167=) c.139T= (p.Leu47=) c.583T= (p.Leu195=) | |
| 17 | g.7674915A>C | CA397840273 | TP53 | c.616T>G (p.Leu206Val) c.220T>G (p.Leu74Val) c.337T>G (p.Leu113Val) c.595T>G (p.Leu199Val) n.872T>G n.67+138T>G c.499T>G (p.Leu167Val) c.139T>G (p.Leu47Val) c.583T>G (p.Leu195Val) | |
| 17 | g.7674915A>G | CA497925321 | TP53 | c.616T>C (p.Leu206=) c.220T>C (p.Leu74=) c.337T>C (p.Leu113=) c.595T>C (p.Leu199=) n.872T>C n.67+138T>C c.499T>C (p.Leu167=) c.139T>C (p.Leu47=) c.583T>C (p.Leu195=) | ClinVar dbSNP |
| 17 | g.7674915A>T | CA397840275 | TP53 | c.616T>A (p.Leu206Met) c.220T>A (p.Leu74Met) c.337T>A (p.Leu113Met) c.595T>A (p.Leu199Met) n.872T>A n.67+138T>A c.499T>A (p.Leu167Met) c.139T>A (p.Leu47Met) c.583T>A (p.Leu195Met) | dbSNP |
| 17 | g.7674915_7674921del | CA891842254 | TP53 | c.610_616del (p.Glu204TrpfsTer?) c.214_220del (p.Glu72TrpfsTer?) c.331_337del (p.Glu111TrpfsTer?) c.589_595del (p.Glu197TrpfsTer?) n.866_872del n.67+132_67+138del c.493_499del (p.Glu165TrpfsTer?) c.133_139del (p.Glu45TrpfsTer?) c.577_583del (p.Glu193TrpfsTer?) | |
| 17 | g.7674916A= | CA2245954739 | TP53 | c.615T= (p.Tyr205=) c.219T= (p.Tyr73=) c.336T= (p.Tyr112=) c.594T= (p.Tyr198=) n.871T= n.67+137T= c.498T= (p.Tyr166=) c.138T= (p.Tyr46=) c.582T= (p.Tyr194=) | |
| 17 | g.7674916A>C | CA397840290 | TP53 | c.615T>G (p.Tyr205Ter) c.219T>G (p.Tyr73Ter) c.336T>G (p.Tyr112Ter) c.594T>G (p.Tyr198Ter) n.871T>G n.67+137T>G c.498T>G (p.Tyr166Ter) c.138T>G (p.Tyr46Ter) c.582T>G (p.Tyr194Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674916A>G | CA287488344 | TP53 | c.615T>C (p.Tyr205=) c.219T>C (p.Tyr73=) c.336T>C (p.Tyr112=) c.594T>C (p.Tyr198=) n.871T>C n.67+137T>C c.498T>C (p.Tyr166=) c.138T>C (p.Tyr46=) c.582T>C (p.Tyr194=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7674916A>T | CA000298 | TP53 | c.615T>A (p.Tyr205Ter) c.219T>A (p.Tyr73Ter) c.336T>A (p.Tyr112Ter) c.594T>A (p.Tyr198Ter) n.871T>A n.67+137T>A c.498T>A (p.Tyr166Ter) c.138T>A (p.Tyr46Ter) c.582T>A (p.Tyr194Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674917_7674923del | CA645588779 | TP53 | c.609_615del (p.Glu204TrpfsTer?) c.213_219del (p.Glu72TrpfsTer?) c.330_336del (p.Glu111TrpfsTer?) c.588_594del (p.Glu197TrpfsTer?) n.865_871del n.67+131_67+137del c.492_498del (p.Glu165TrpfsTer?) c.132_138del (p.Glu45TrpfsTer?) c.576_582del (p.Glu193TrpfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674917T>A | CA16603096 | TP53 | c.614A>T (p.Tyr205Phe) c.218A>T (p.Tyr73Phe) c.335A>T (p.Tyr112Phe) c.593A>T (p.Tyr198Phe) n.870A>T n.67+136A>T c.497A>T (p.Tyr166Phe) c.137A>T (p.Tyr46Phe) c.581A>T (p.Tyr194Phe) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674917T>C | CA16603095 | TP53 | c.614A>G (p.Tyr205Cys) c.218A>G (p.Tyr73Cys) c.335A>G (p.Tyr112Cys) c.593A>G (p.Tyr198Cys) n.870A>G n.67+136A>G c.497A>G (p.Tyr166Cys) c.137A>G (p.Tyr46Cys) c.581A>G (p.Tyr194Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674917T>G | CA16603097 | TP53 | c.614A>C (p.Tyr205Ser) c.218A>C (p.Tyr73Ser) c.335A>C (p.Tyr112Ser) c.593A>C (p.Tyr198Ser) n.870A>C n.67+136A>C c.497A>C (p.Tyr166Ser) c.137A>C (p.Tyr46Ser) c.581A>C (p.Tyr194Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674917T= | CA2245954753 | TP53 | c.614A= (p.Tyr205=) c.218A= (p.Tyr73=) c.335A= (p.Tyr112=) c.593A= (p.Tyr198=) n.870A= n.67+136A= c.497A= (p.Tyr166=) c.137A= (p.Tyr46=) c.581A= (p.Tyr194=) | |
| 17 | g.7674917_7674920dup | CA2635878885 | TP53 | c.611_614dup (p.Tyr205Ter) c.215_218dup (p.Tyr73Ter) c.332_335dup (p.Tyr112Ter) c.590_593dup (p.Tyr198Ter) n.867_870dup n.67+133_67+136dup c.494_497dup (p.Tyr166Ter) c.134_137dup (p.Tyr46Ter) c.578_581dup (p.Tyr194Ter) | gnomAD v4 |
| 17 | g.7674917_7674922del | CA645588780 | TP53 | c.609_614del (p.Glu204_Tyr205del) c.213_218del (p.Glu72_Tyr73del) c.330_335del (p.Glu111_Tyr112del) c.588_593del (p.Glu197_Tyr198del) n.865_870del n.67+131_67+136del c.492_497del (p.Glu165_Tyr166del) c.132_137del (p.Glu45_Tyr46del) c.576_581del (p.Glu193_Tyr194del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674917_7674918insG | CA645588785 | TP53 | c.613_614insC (p.Tyr205SerfsTer4) c.217_218insC (p.Tyr73SerfsTer4) c.334_335insC (p.Tyr112SerfsTer4) c.592_593insC (p.Tyr198SerfsTer4) n.869_870insC n.67+135_67+136insC c.496_497insC (p.Tyr166SerfsTer4) c.136_137insC (p.Tyr46SerfsTer4) c.580_581insC (p.Tyr194SerfsTer4) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674918del | CA497925322 | TP53 | c.613del (p.Tyr205IlefsTer?) c.217del (p.Tyr73IlefsTer?) c.334del (p.Tyr112IlefsTer?) c.592del (p.Tyr198IlefsTer?) n.869del n.67+135del c.496del (p.Tyr166IlefsTer?) c.136del (p.Tyr46IlefsTer?) c.580del (p.Tyr194IlefsTer?) | COSMIC |
| 17 | g.7674918A= | CA2245954773 | TP53 | c.613T= (p.Tyr205=) c.217T= (p.Tyr73=) c.334T= (p.Tyr112=) c.592T= (p.Tyr198=) n.869T= n.67+135T= c.496T= (p.Tyr166=) c.136T= (p.Tyr46=) c.580T= (p.Tyr194=) | |
| 17 | g.7674918A>C | CA16603100 | TP53 | c.613T>G (p.Tyr205Asp) c.217T>G (p.Tyr73Asp) c.334T>G (p.Tyr112Asp) c.592T>G (p.Tyr198Asp) n.869T>G n.67+135T>G c.496T>G (p.Tyr166Asp) c.136T>G (p.Tyr46Asp) c.580T>G (p.Tyr194Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |