| 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.7673536_7673594dup | CA2499224956 | TP53 | c.934_992dup (p.Ile332ProfsTer33) c.538_596dup (p.Ile200ProfsTer33) c.655_713dup (p.Ile239ProfsTer33) c.913_971dup (p.Ile325ProfsTer33) c.934_992dup (p.Lys332ProfsTer40) c.782+587_782+645dup (n.782+587_782+645dup) c.934_992dup (p.Asp332ProfsTer39) c.934_992dup (p.Met332ProfsTer31) c.538_596dup (p.Met200ProfsTer31) c.538_596dup (p.Gln199=) c.538_596dup (p.Asp200ProfsTer39) c.817_875dup (p.Ile293ProfsTer33) c.817_875dup (p.Met293ProfsTer31) c.457_515dup (p.Met173ProfsTer31) c.901_959dup (p.Ile321ProfsTer33) c.457_515dup (p.Asp173ProfsTer39) c.457_515dup (p.Ile173ProfsTer33) c.817_875dup (p.Asp293ProfsTer39) | ClinVar dbSNP |
| 17 | g.7673565_7673605del | CA645587356 | TP53 | c.923_963del (p.Leu308ProfsTer15) c.527_567del (p.Leu176ProfsTer15) c.644_684del (p.Leu215ProfsTer15) c.902_942del (p.Leu301ProfsTer15) c.923_963del (p.Leu308ProfsTer?) c.782+576_782+616del (n.782+576_782+616del) c.923_963del (p.Leu308ProfsTer25) c.923_963del (p.Leu308ProfsTer14) c.527_567del (p.Leu176ProfsTer14) c.527_567del (p.Leu176ProfsTer?) c.527_567del (p.Leu176ProfsTer25) c.806_846del (p.Leu269ProfsTer15) c.806_846del (p.Leu269ProfsTer14) c.446_486del (p.Leu149ProfsTer14) c.890_930del (p.Leu297ProfsTer15) c.446_486del (p.Leu149ProfsTer25) c.446_486del (p.Leu149ProfsTer15) c.806_846del (p.Leu269ProfsTer25) | COSMIC |
| 17 | g.7673570_7673587del | CA645587360 | TP53 | c.941_958del (p.Ser314Ter) c.545_562del (p.Ser182Ter) c.662_679del (p.Ser221Ter) c.920_937del (p.Ser307Ter) c.782+594_782+611del (n.782+594_782+611del) c.1_18del c.824_841del (p.Ser275Ter) c.464_481del (p.Ser155Ter) c.908_925del (p.Ser303Ter) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673570_7673588del | CA645587363 | TP53 | c.940_958del (p.Ser314ArgfsTer25) c.544_562del (p.Ser182ArgfsTer25) c.661_679del (p.Ser221ArgfsTer25) c.919_937del (p.Ser307ArgfsTer25) c.940_958del (p.Ser314ArgfsTer?) c.782+593_782+611del (n.782+593_782+611del) c.940_958del (p.Ser314ArgfsTer23) c.544_562del (p.Ser182ArgfsTer23) c.544_562del (p.Ser182ArgfsTer?) c.823_841del (p.Ser275ArgfsTer25) c.823_841del (p.Ser275ArgfsTer23) c.463_481del (p.Ser155ArgfsTer23) c.907_925del (p.Ser303ArgfsTer25) c.463_481del (p.Ser155ArgfsTer?) c.463_481del (p.Ser155ArgfsTer25) c.823_841del (p.Ser275ArgfsTer?) | COSMIC |
| 17 | g.7673581_7673591delinsGGAGAGGAGCT | CA2245947806 | TP53 | c.937_947delinsAGCTCCTCTCC (p.Ser313=) c.541_551delinsAGCTCCTCTCC (p.Ser181=) c.658_668delinsAGCTCCTCTCC (p.Ser220=) c.916_926delinsAGCTCCTCTCC (p.Ser306=) c.782+590_782+600delinsAGCTCCTCTCC (n.782+590_782+600delinsAGCTCCTCTCC) c.820_830delinsAGCTCCTCTCC (p.Ser274=) c.460_470delinsAGCTCCTCTCC (p.Ser154=) c.904_914delinsAGCTCCTCTCC (p.Ser302=) | |
| 17 | g.7673583_7673592del | CA913190577 | TP53 | c.937_946del (p.Ser313ProfsTer29) c.541_550del (p.Ser181ProfsTer29) c.658_667del (p.Ser220ProfsTer29) c.916_925del (p.Ser306ProfsTer29) c.937_946del (p.Ser313ProfsTer?) c.782+590_782+599del (n.782+590_782+599del) c.937_946del (p.Ser313ProfsTer27) c.541_550del (p.Ser181ProfsTer27) c.541_550del (p.Ser181ProfsTer?) c.820_829del (p.Ser274ProfsTer29) c.820_829del (p.Ser274ProfsTer27) c.460_469del (p.Ser154ProfsTer27) c.904_913del (p.Ser302ProfsTer29) c.460_469del (p.Ser154ProfsTer?) c.460_469del (p.Ser154ProfsTer29) c.820_829del (p.Ser274ProfsTer?) | ClinVar dbSNP |
| 17 | g.7673587G>A | CA001234 | TP53 | c.941C>T (p.Ser314Phe) c.545C>T (p.Ser182Phe) c.662C>T (p.Ser221Phe) c.920C>T (p.Ser307Phe) c.782+594C>T (n.782+594C>T) c.1C>T c.824C>T (p.Ser275Phe) c.464C>T (p.Ser155Phe) c.908C>T (p.Ser303Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7673587G>C | CA397836031 | TP53 | c.941C>G (p.Ser314Cys) c.545C>G (p.Ser182Cys) c.662C>G (p.Ser221Cys) c.920C>G (p.Ser307Cys) c.782+594C>G (n.782+594C>G) c.1C>G c.824C>G (p.Ser275Cys) c.464C>G (p.Ser155Cys) c.908C>G (p.Ser303Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673587G= | CA2245947882 | TP53 | c.941C= (p.Ser314=) c.545C= (p.Ser182=) c.662C= (p.Ser221=) c.920C= (p.Ser307=) c.782+594C= (n.782+594C=) c.1C= c.824C= (p.Ser275=) c.464C= (p.Ser155=) c.908C= (p.Ser303=) | |
| 17 | g.7673587G>T | CA397836036 | TP53 | c.941C>A (p.Ser314Tyr) c.545C>A (p.Ser182Tyr) c.662C>A (p.Ser221Tyr) c.920C>A (p.Ser307Tyr) c.782+594C>A (n.782+594C>A) c.1C>A c.824C>A (p.Ser275Tyr) c.464C>A (p.Ser155Tyr) c.908C>A (p.Ser303Tyr) | dbSNP |
| 17 | g.7673588A>C | CA397836044 | TP53 | c.940T>G (p.Ser314Ala) c.544T>G (p.Ser182Ala) c.661T>G (p.Ser221Ala) c.919T>G (p.Ser307Ala) c.782+593T>G (n.782+593T>G) c.823T>G (p.Ser275Ala) c.463T>G (p.Ser155Ala) c.907T>G (p.Ser303Ala) | |
| 17 | g.7673588A>G | CA397836042 | TP53 | c.940T>C (p.Ser314Pro) c.544T>C (p.Ser182Pro) c.661T>C (p.Ser221Pro) c.919T>C (p.Ser307Pro) c.782+593T>C (n.782+593T>C) c.823T>C (p.Ser275Pro) c.463T>C (p.Ser155Pro) c.907T>C (p.Ser303Pro) | |
| 17 | g.7673588A>T | CA397836039 | TP53 | c.940T>A (p.Ser314Thr) c.544T>A (p.Ser182Thr) c.661T>A (p.Ser221Thr) c.919T>A (p.Ser307Thr) c.782+593T>A (n.782+593T>A) c.823T>A (p.Ser275Thr) c.463T>A (p.Ser155Thr) c.907T>A (p.Ser303Thr) | dbSNP |
| 17 | g.7673589G>A | CA497714209 | TP53 | c.939C>T (p.Ser313=) c.543C>T (p.Ser181=) c.660C>T (p.Ser220=) c.918C>T (p.Ser306=) c.782+592C>T (n.782+592C>T) c.822C>T (p.Ser274=) c.462C>T (p.Ser154=) c.906C>T (p.Ser302=) | dbSNP |
| 17 | g.7673589G>C | CA397836048 | TP53 | c.939C>G (p.Ser313Arg) c.543C>G (p.Ser181Arg) c.660C>G (p.Ser220Arg) c.918C>G (p.Ser306Arg) c.782+592C>G (n.782+592C>G) c.822C>G (p.Ser274Arg) c.462C>G (p.Ser154Arg) c.906C>G (p.Ser302Arg) | dbSNP |
| 17 | g.7673589G= | CA2245947895 | TP53 | c.939C= (p.Ser313=) c.543C= (p.Ser181=) c.660C= (p.Ser220=) c.918C= (p.Ser306=) c.782+592C= (n.782+592C=) c.822C= (p.Ser274=) c.462C= (p.Ser154=) c.906C= (p.Ser302=) | |
| 17 | g.7673589G>T | CA397836050 | TP53 | c.939C>A (p.Ser313Arg) c.543C>A (p.Ser181Arg) c.660C>A (p.Ser220Arg) c.918C>A (p.Ser306Arg) c.782+592C>A (n.782+592C>A) c.822C>A (p.Ser274Arg) c.462C>A (p.Ser154Arg) c.906C>A (p.Ser302Arg) | dbSNP |
| 17 | g.7673592_7673610del | CA645587376 | TP53 | c.921_939del c.525_543del c.642_660del c.900_918del c.782+574_782+592del (n.782+574_782+592del) c.804_822del c.444_462del c.888_906del | COSMIC |
| 17 | g.7673590del | CA891842223 | TP53 | c.938del (p.Ser313ThrfsTer?) c.542del (p.Ser181ThrfsTer?) c.659del (p.Ser220ThrfsTer?) c.917del (p.Ser306ThrfsTer?) c.782+591del (n.782+591del) c.938del (p.Ser313ThrfsTer30) c.542del (p.Ser181ThrfsTer30) c.821del (p.Ser274ThrfsTer?) c.821del (p.Ser274ThrfsTer30) c.461del (p.Ser154ThrfsTer30) c.905del (p.Ser302ThrfsTer?) c.461del (p.Ser154ThrfsTer?) | |
| 17 | g.7673590C>A | CA397836053 | TP53 | c.938G>T (p.Ser313Ile) c.542G>T (p.Ser181Ile) c.659G>T (p.Ser220Ile) c.917G>T (p.Ser306Ile) c.782+591G>T (n.782+591G>T) c.821G>T (p.Ser274Ile) c.461G>T (p.Ser154Ile) c.905G>T (p.Ser302Ile) | dbSNP |
| 17 | g.7673590C>G | CA397836056 | TP53 | c.938G>C (p.Ser313Thr) c.542G>C (p.Ser181Thr) c.659G>C (p.Ser220Thr) c.917G>C (p.Ser306Thr) c.782+591G>C (n.782+591G>C) c.821G>C (p.Ser274Thr) c.461G>C (p.Ser154Thr) c.905G>C (p.Ser302Thr) | dbSNP |
| 17 | g.7673590C>T | CA397836058 | TP53 | c.938G>A (p.Ser313Asn) c.542G>A (p.Ser181Asn) c.659G>A (p.Ser220Asn) c.917G>A (p.Ser306Asn) c.782+591G>A (n.782+591G>A) c.821G>A (p.Ser274Asn) c.461G>A (p.Ser154Asn) c.905G>A (p.Ser302Asn) | ClinVar dbSNP COSMIC |
| 17 | g.7673592_7673702del | CA645587377 | TP53 | c.919+1_938del c.523+1_542del c.640+1_659del c.898+1_917del c.782+481_782+591del (n.782+481_782+591del) c.802+1_821del c.442+1_461del c.886+1_905del | COSMIC |
| 17 | g.7673591T>A | CA397836061 | TP53 | c.937A>T (p.Ser313Cys) c.541A>T (p.Ser181Cys) c.658A>T (p.Ser220Cys) c.916A>T (p.Ser306Cys) c.782+590A>T (n.782+590A>T) c.820A>T (p.Ser274Cys) c.460A>T (p.Ser154Cys) c.904A>T (p.Ser302Cys) | COSMIC |
| 17 | g.7673591T>C | CA397836063 | TP53 | c.937A>G (p.Ser313Gly) c.541A>G (p.Ser181Gly) c.658A>G (p.Ser220Gly) c.916A>G (p.Ser306Gly) c.782+590A>G (n.782+590A>G) c.820A>G (p.Ser274Gly) c.460A>G (p.Ser154Gly) c.904A>G (p.Ser302Gly) | |
| 17 | g.7673591T>G | CA397836065 | TP53 | c.937A>C (p.Ser313Arg) c.541A>C (p.Ser181Arg) c.658A>C (p.Ser220Arg) c.916A>C (p.Ser306Arg) c.782+590A>C (n.782+590A>C) c.820A>C (p.Ser274Arg) c.460A>C (p.Ser154Arg) c.904A>C (p.Ser302Arg) | |
| 17 | g.7673592G>A | CA497714260 | TP53 | c.936C>T (p.Thr312=) c.540C>T (p.Thr180=) c.657C>T (p.Thr219=) c.915C>T (p.Thr305=) c.782+589C>T (n.782+589C>T) c.819C>T (p.Thr273=) c.459C>T (p.Thr153=) c.903C>T (p.Thr301=) | COSMIC |
| 17 | g.7673592G>C | CA497714258 | TP53 | c.936C>G (p.Thr312=) c.540C>G (p.Thr180=) c.657C>G (p.Thr219=) c.915C>G (p.Thr305=) c.782+589C>G (n.782+589C>G) c.819C>G (p.Thr273=) c.459C>G (p.Thr153=) c.903C>G (p.Thr301=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673592G= | CA2245947902 | TP53 | c.936C= (p.Thr312=) c.540C= (p.Thr180=) c.657C= (p.Thr219=) c.915C= (p.Thr305=) c.782+589C= (n.782+589C=) c.819C= (p.Thr273=) c.459C= (p.Thr153=) c.903C= (p.Thr301=) | |
| 17 | g.7673592G>T | CA497714264 | TP53 | c.936C>A (p.Thr312=) c.540C>A (p.Thr180=) c.657C>A (p.Thr219=) c.915C>A (p.Thr305=) c.782+589C>A (n.782+589C>A) c.819C>A (p.Thr273=) c.459C>A (p.Thr153=) c.903C>A (p.Thr301=) | ClinVar dbSNP COSMIC |
| 17 | g.7673593del | CA497714256 | TP53 | c.936del (p.Ser313AlafsTer?) c.540del (p.Ser181AlafsTer?) c.657del (p.Ser220AlafsTer?) c.915del (p.Ser306AlafsTer?) c.782+589del (n.782+589del) c.819del (p.Ser274AlafsTer?) c.459del (p.Ser154AlafsTer?) c.903del (p.Ser302AlafsTer?) | COSMIC COSMIC COSMIC |
| 17 | g.7673593G>A | CA397836069 | TP53 | c.935C>T (p.Thr312Ile) c.539C>T (p.Thr180Ile) c.656C>T (p.Thr219Ile) c.914C>T (p.Thr305Ile) c.782+588C>T (n.782+588C>T) c.818C>T (p.Thr273Ile) c.458C>T (p.Thr153Ile) c.902C>T (p.Thr301Ile) | ClinVar dbSNP COSMIC |
| 17 | g.7673593G>C | CA000505 | TP53 | c.935C>G (p.Thr312Ser) c.539C>G (p.Thr180Ser) c.656C>G (p.Thr219Ser) c.914C>G (p.Thr305Ser) c.782+588C>G (n.782+588C>G) c.818C>G (p.Thr273Ser) c.458C>G (p.Thr153Ser) c.902C>G (p.Thr301Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673593G= | CA2245947910 | TP53 | c.935C= (p.Thr312=) c.539C= (p.Thr180=) c.656C= (p.Thr219=) c.914C= (p.Thr305=) c.782+588C= (n.782+588C=) c.818C= (p.Thr273=) c.458C= (p.Thr153=) c.902C= (p.Thr301=) | |
| 17 | g.7673593G>T | CA397836074 | TP53 | c.935C>A (p.Thr312Asn) c.539C>A (p.Thr180Asn) c.656C>A (p.Thr219Asn) c.914C>A (p.Thr305Asn) c.782+588C>A (n.782+588C>A) c.818C>A (p.Thr273Asn) c.458C>A (p.Thr153Asn) c.902C>A (p.Thr301Asn) | ClinVar dbSNP |
| 17 | g.7673593_7673594insACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTG | CA645587378 | TP53 | c.935_936insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser313LeufsTer?) c.539_540insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser181LeufsTer?) c.656_657insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser220LeufsTer?) c.914_915insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser306LeufsTer?) c.782+588_782+589insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (n.782+588_782+589insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC) c.818_819insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser274LeufsTer?) c.458_459insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser154LeufsTer?) c.902_903insACTGGATGGAGAATATTTCACCCTTCAGGTACTAAGTC (p.Ser302LeufsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673594del | CA497714281 | TP53 | c.934del (p.Thr312ProfsTer?) c.538del (p.Thr180ProfsTer?) c.655del (p.Thr219ProfsTer?) c.913del (p.Thr305ProfsTer?) c.782+587del (n.782+587del) c.817del (p.Thr273ProfsTer?) c.457del (p.Thr153ProfsTer?) c.901del (p.Thr301ProfsTer?) | COSMIC |
| 17 | g.7673594T>A | CA397836079 | TP53 | c.934A>T (p.Thr312Ser) c.538A>T (p.Thr180Ser) c.655A>T (p.Thr219Ser) c.913A>T (p.Thr305Ser) c.782+587A>T (n.782+587A>T) c.817A>T (p.Thr273Ser) c.457A>T (p.Thr153Ser) c.901A>T (p.Thr301Ser) | dbSNP COSMIC |
| 17 | g.7673594T>C | CA397836082 | TP53 | c.934A>G (p.Thr312Ala) c.538A>G (p.Thr180Ala) c.655A>G (p.Thr219Ala) c.913A>G (p.Thr305Ala) c.782+587A>G (n.782+587A>G) c.817A>G (p.Thr273Ala) c.457A>G (p.Thr153Ala) c.901A>G (p.Thr301Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7673594T>G | CA397836085 | TP53 | c.934A>C (p.Thr312Pro) c.538A>C (p.Thr180Pro) c.655A>C (p.Thr219Pro) c.913A>C (p.Thr305Pro) c.782+587A>C (n.782+587A>C) c.817A>C (p.Thr273Pro) c.457A>C (p.Thr153Pro) c.901A>C (p.Thr301Pro) | dbSNP |
| 17 | g.7673594dup | CA645587379 | TP53 | c.934dup (p.Thr312AsnfsTer25) c.538dup (p.Thr180AsnfsTer25) c.655dup (p.Thr219AsnfsTer25) c.913dup (p.Thr305AsnfsTer25) c.934dup (p.Thr312AsnfsTer?) c.782+587dup (n.782+587dup) c.934dup (p.Thr312AsnfsTer24) c.538dup (p.Thr180AsnfsTer24) c.538dup (p.Thr180AsnfsTer?) c.817dup (p.Thr273AsnfsTer25) c.817dup (p.Thr273AsnfsTer24) c.457dup (p.Thr153AsnfsTer24) c.901dup (p.Thr301AsnfsTer25) c.457dup (p.Thr153AsnfsTer?) c.457dup (p.Thr153AsnfsTer25) c.817dup (p.Thr273AsnfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673594_7673595delinsTG | CA2245947916 | TP53 | c.933_934delinsCA (p.Asn311=) c.537_538delinsCA (p.Asn179=) c.654_655delinsCA (p.Asn218=) c.912_913delinsCA (p.Asn304=) c.782+586_782+587delinsCA (n.782+586_782+587delinsCA) c.816_817delinsCA (p.Asn272=) c.456_457delinsCA (p.Asn152=) c.900_901delinsCA (p.Asn300=) | |
| 17 | g.7673595del | CA497714310 | TP53 | c.933del (p.Asn311LysfsTer?) c.537del (p.Asn179LysfsTer?) c.654del (p.Asn218LysfsTer?) c.912del (p.Asn304LysfsTer?) c.782+586del (n.782+586del) c.816del (p.Asn272LysfsTer?) c.456del (p.Asn152LysfsTer?) c.900del (p.Asn300LysfsTer?) | ClinVar dbSNP COSMIC |
| 17 | g.7673595G>A | CA16607849 | TP53 | c.933C>T (p.Asn311=) c.537C>T (p.Asn179=) c.654C>T (p.Asn218=) c.912C>T (p.Asn304=) c.782+586C>T (n.782+586C>T) c.816C>T (p.Asn272=) c.456C>T (p.Asn152=) c.900C>T (p.Asn300=) | ClinVar dbSNP |
| 17 | g.7673595G>C | CA397836091 | TP53 | c.933C>G (p.Asn311Lys) c.537C>G (p.Asn179Lys) c.654C>G (p.Asn218Lys) c.912C>G (p.Asn304Lys) c.782+586C>G (n.782+586C>G) c.816C>G (p.Asn272Lys) c.456C>G (p.Asn152Lys) c.900C>G (p.Asn300Lys) | dbSNP COSMIC |
| 17 | g.7673595G= | CA2245947932 | TP53 | c.933C= (p.Asn311=) c.537C= (p.Asn179=) c.654C= (p.Asn218=) c.912C= (p.Asn304=) c.782+586C= (n.782+586C=) c.816C= (p.Asn272=) c.456C= (p.Asn152=) c.900C= (p.Asn300=) | |
| 17 | g.7673595G>T | CA397836089 | TP53 | c.933C>A (p.Asn311Lys) c.537C>A (p.Asn179Lys) c.654C>A (p.Asn218Lys) c.912C>A (p.Asn304Lys) c.782+586C>A (n.782+586C>A) c.816C>A (p.Asn272Lys) c.456C>A (p.Asn152Lys) c.900C>A (p.Asn300Lys) | |
| 17 | g.7673596T>A | CA397836095 | TP53 | c.932A>T (p.Asn311Ile) c.536A>T (p.Asn179Ile) c.653A>T (p.Asn218Ile) c.911A>T (p.Asn304Ile) c.782+585A>T (n.782+585A>T) c.815A>T (p.Asn272Ile) c.455A>T (p.Asn152Ile) c.899A>T (p.Asn300Ile) | dbSNP |