| 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.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.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.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.7673598_7673702del | CA645587380 | TP53 | c.919_931del c.523_535del c.640_652del c.898_910del c.782+480_782+584del (n.782+480_782+584del) c.802_814del c.442_454del c.886_898del | COSMIC |
| 17 | g.7673600_7673604del | CA645587385 | TP53 | c.924_928del (p.Pro309GlnfsTer26) c.528_532del (p.Pro177GlnfsTer26) c.645_649del (p.Pro216GlnfsTer26) c.903_907del (p.Pro302GlnfsTer26) c.924_928del (p.Pro309GlnfsTer?) c.782+577_782+581del (n.782+577_782+581del) c.924_928del (p.Pro309GlnfsTer25) c.528_532del (p.Pro177GlnfsTer25) c.528_532del (p.Pro177GlnfsTer?) c.807_811del (p.Pro270GlnfsTer26) c.807_811del (p.Pro270GlnfsTer25) c.447_451del (p.Pro150GlnfsTer25) c.891_895del (p.Pro298GlnfsTer26) c.447_451del (p.Pro150GlnfsTer?) c.447_451del (p.Pro150GlnfsTer26) c.807_811del (p.Pro270GlnfsTer?) | COSMIC |
| 17 | g.7673600_7673614del | CA645587386 | TP53 | c.920-6_928del c.524-6_532del c.641-6_649del c.899-6_907del c.782+567_782+581del (n.782+567_782+581del) c.803-6_811del c.443-6_451del c.887-6_895del | COSMIC |
| 17 | g.7673603del | CA497714355 | TP53 | c.927del (p.Asn310ThrfsTer?) c.531del (p.Asn178ThrfsTer?) c.648del (p.Asn217ThrfsTer?) c.906del (p.Asn303ThrfsTer?) c.782+580del (n.782+580del) c.810del (p.Asn271ThrfsTer?) c.450del (p.Asn151ThrfsTer?) c.894del (p.Asn299ThrfsTer?) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7673606_7673622del | CA645587387 | TP53 | c.920-10_926del c.524-10_530del c.641-10_647del c.899-10_905del c.782+563_782+579del (n.782+563_782+579del) c.803-10_809del c.443-10_449del c.887-10_893del | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673603G>A | CA397836140 | TP53 | c.925C>T (p.Pro309Ser) c.529C>T (p.Pro177Ser) c.646C>T (p.Pro216Ser) c.904C>T (p.Pro302Ser) c.782+578C>T (n.782+578C>T) c.808C>T (p.Pro270Ser) c.448C>T (p.Pro150Ser) c.892C>T (p.Pro298Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673603G>C | CA397836142 | TP53 | c.925C>G (p.Pro309Ala) c.529C>G (p.Pro177Ala) c.646C>G (p.Pro216Ala) c.904C>G (p.Pro302Ala) c.782+578C>G (n.782+578C>G) c.808C>G (p.Pro270Ala) c.448C>G (p.Pro150Ala) c.892C>G (p.Pro298Ala) | dbSNP |
| 17 | g.7673603G= | CA2245948005 | TP53 | c.925C= (p.Pro309=) c.529C= (p.Pro177=) c.646C= (p.Pro216=) c.904C= (p.Pro302=) c.782+578C= (n.782+578C=) c.808C= (p.Pro270=) c.448C= (p.Pro150=) c.892C= (p.Pro298=) | |
| 17 | g.7673603G>T | CA397836145 | TP53 | c.925C>A (p.Pro309Thr) c.529C>A (p.Pro177Thr) c.646C>A (p.Pro216Thr) c.904C>A (p.Pro302Thr) c.782+578C>A (n.782+578C>A) c.808C>A (p.Pro270Thr) c.448C>A (p.Pro150Thr) c.892C>A (p.Pro298Thr) | dbSNP |
| 17 | g.7673604C>A | CA497714384 | TP53 | c.924G>T (p.Leu308=) c.528G>T (p.Leu176=) c.645G>T (p.Leu215=) c.903G>T (p.Leu301=) c.782+577G>T (n.782+577G>T) c.807G>T (p.Leu269=) c.447G>T (p.Leu149=) c.891G>T (p.Leu297=) | ClinVar |
| 17 | g.7673604C= | CA2245948012 | TP53 | c.924G= (p.Leu308=) c.528G= (p.Leu176=) c.645G= (p.Leu215=) c.903G= (p.Leu301=) c.782+577G= (n.782+577G=) c.807G= (p.Leu269=) c.447G= (p.Leu149=) c.891G= (p.Leu297=) | |
| 17 | g.7673604C>G | CA16615992 | TP53 | c.924G>C (p.Leu308=) c.528G>C (p.Leu176=) c.645G>C (p.Leu215=) c.903G>C (p.Leu301=) c.782+577G>C (n.782+577G>C) c.807G>C (p.Leu269=) c.447G>C (p.Leu149=) c.891G>C (p.Leu297=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7673604C>T | CA000503 | TP53 | c.924G>A (p.Leu308=) c.528G>A (p.Leu176=) c.645G>A (p.Leu215=) c.903G>A (p.Leu301=) c.782+577G>A (n.782+577G>A) c.807G>A (p.Leu269=) c.447G>A (p.Leu149=) c.891G>A (p.Leu297=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7673610_7673611insCAACAGTGCT | CA645587389 | TP53 | c.924_925insTTGAGCACTG c.528_529insTTGAGCACTG c.645_646insTTGAGCACTG c.903_904insTTGAGCACTG c.782+577_782+578insTTGAGCACTG (n.782+577_782+578insTTGAGCACTG) c.807_808insTTGAGCACTG c.447_448insTTGAGCACTG c.891_892insTTGAGCACTG | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673605A>C | CA397836151 | TP53 | c.923T>G (p.Leu308Arg) c.527T>G (p.Leu176Arg) c.644T>G (p.Leu215Arg) c.902T>G (p.Leu301Arg) c.782+576T>G (n.782+576T>G) c.806T>G (p.Leu269Arg) c.446T>G (p.Leu149Arg) c.890T>G (p.Leu297Arg) | |
| 17 | g.7673605A>G | CA397836154 | TP53 | c.923T>C (p.Leu308Pro) c.527T>C (p.Leu176Pro) c.644T>C (p.Leu215Pro) c.902T>C (p.Leu301Pro) c.782+576T>C (n.782+576T>C) c.806T>C (p.Leu269Pro) c.446T>C (p.Leu149Pro) c.890T>C (p.Leu297Pro) | dbSNP |
| 17 | g.7673605A>T | CA397836155 | TP53 | c.923T>A (p.Leu308Gln) c.527T>A (p.Leu176Gln) c.644T>A (p.Leu215Gln) c.902T>A (p.Leu301Gln) c.782+576T>A (n.782+576T>A) c.806T>A (p.Leu269Gln) c.446T>A (p.Leu149Gln) c.890T>A (p.Leu297Gln) | dbSNP |
| 17 | g.7673605_7673611del | CA2580094903 | TP53 | c.920-3_923del c.524-3_527del c.641-3_644del c.899-3_902del c.782+570_782+576del (n.782+570_782+576del) c.803-3_806del c.443-3_446del c.887-3_890del | ClinVar |
| 17 | g.7673606G>A | CA497714399 | TP53 | c.922C>T (p.Leu308=) c.526C>T (p.Leu176=) c.643C>T (p.Leu215=) c.901C>T (p.Leu301=) c.782+575C>T (n.782+575C>T) c.805C>T (p.Leu269=) c.445C>T (p.Leu149=) c.889C>T (p.Leu297=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673606G>C | CA397836159 | TP53 | c.922C>G (p.Leu308Val) c.526C>G (p.Leu176Val) c.643C>G (p.Leu215Val) c.901C>G (p.Leu301Val) c.782+575C>G (n.782+575C>G) c.805C>G (p.Leu269Val) c.445C>G (p.Leu149Val) c.889C>G (p.Leu297Val) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673606G= | CA2245948029 | TP53 | c.922C= (p.Leu308=) c.526C= (p.Leu176=) c.643C= (p.Leu215=) c.901C= (p.Leu301=) c.782+575C= (n.782+575C=) c.805C= (p.Leu269=) c.445C= (p.Leu149=) c.889C= (p.Leu297=) | |
| 17 | g.7673606G>T | CA397836161 | TP53 | c.922C>A (p.Leu308Met) c.526C>A (p.Leu176Met) c.643C>A (p.Leu215Met) c.901C>A (p.Leu301Met) c.782+575C>A (n.782+575C>A) c.805C>A (p.Leu269Met) c.445C>A (p.Leu149Met) c.889C>A (p.Leu297Met) | COSMIC |
| 17 | g.7673607_7673608del | CA645587390 | TP53 | c.921_922del (p.Leu308AlafsTer28) c.525_526del (p.Leu176AlafsTer28) c.642_643del (p.Leu215AlafsTer28) c.900_901del (p.Leu301AlafsTer28) c.921_922del (p.Leu308AlafsTer?) c.782+574_782+575del (n.782+574_782+575del) c.921_922del (p.Leu308AlafsTer27) c.525_526del (p.Leu176AlafsTer27) c.525_526del (p.Leu176AlafsTer?) c.804_805del (p.Leu269AlafsTer28) c.804_805del (p.Leu269AlafsTer27) c.444_445del (p.Leu149AlafsTer27) c.888_889del (p.Leu297AlafsTer28) c.444_445del (p.Leu149AlafsTer?) c.444_445del (p.Leu149AlafsTer28) c.804_805del (p.Leu269AlafsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673607T>A | CA497714414 | TP53 | c.921A>T (p.Ala307=) c.525A>T (p.Ala175=) c.642A>T (p.Ala214=) c.900A>T (p.Ala300=) c.782+574A>T (n.782+574A>T) c.804A>T (p.Ala268=) c.444A>T (p.Ala148=) c.888A>T (p.Ala296=) | dbSNP |
| 17 | g.7673607T>C | CA497714418 | TP53 | c.921A>G (p.Ala307=) c.525A>G (p.Ala175=) c.642A>G (p.Ala214=) c.900A>G (p.Ala300=) c.782+574A>G (n.782+574A>G) c.804A>G (p.Ala268=) c.444A>G (p.Ala148=) c.888A>G (p.Ala296=) | ClinVar dbSNP COSMIC |
| 17 | g.7673607T>G | CA497714421 | TP53 | c.921A>C (p.Ala307=) c.525A>C (p.Ala175=) c.642A>C (p.Ala214=) c.900A>C (p.Ala300=) c.782+574A>C (n.782+574A>C) c.804A>C (p.Ala268=) c.444A>C (p.Ala148=) c.888A>C (p.Ala296=) | dbSNP |
| 17 | g.7673607T= | CA2245948035 | TP53 | c.921A= (p.Ala307=) c.525A= (p.Ala175=) c.642A= (p.Ala214=) c.900A= (p.Ala300=) c.782+574A= (n.782+574A=) c.804A= (p.Ala268=) c.444A= (p.Ala148=) c.888A= (p.Ala296=) | |
| 17 | g.7673608del | CA2697559393 | TP53 | c.920del (p.Ala307AspfsTer?) c.524del (p.Ala175AspfsTer?) c.641del (p.Ala214AspfsTer?) c.899del (p.Ala300AspfsTer?) c.782+573del (n.782+573del) c.803del (p.Ala268AspfsTer?) c.443del (p.Ala148AspfsTer?) c.887del (p.Ala296AspfsTer?) | ClinVar |
| 17 | g.7673608G>A | CA397836165 | TP53 | c.920C>T (p.Ala307Val) c.524C>T (p.Ala175Val) c.641C>T (p.Ala214Val) c.899C>T (p.Ala300Val) c.782+573C>T (n.782+573C>T) c.803C>T (p.Ala268Val) c.443C>T (p.Ala148Val) c.887C>T (p.Ala296Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673608G>C | CA397836168 | TP53 | c.920C>G (p.Ala307Gly) c.524C>G (p.Ala175Gly) c.641C>G (p.Ala214Gly) c.899C>G (p.Ala300Gly) c.782+573C>G (n.782+573C>G) c.803C>G (p.Ala268Gly) c.443C>G (p.Ala148Gly) c.887C>G (p.Ala296Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673608G= | CA2245948041 | TP53 | c.920C= (p.Ala307=) c.524C= (p.Ala175=) c.641C= (p.Ala214=) c.899C= (p.Ala300=) c.782+573C= (n.782+573C=) c.803C= (p.Ala268=) c.443C= (p.Ala148=) c.887C= (p.Ala296=) | |
| 17 | g.7673608G>T | CA397836170 | TP53 | c.920C>A (p.Ala307Glu) c.524C>A (p.Ala175Glu) c.641C>A (p.Ala214Glu) c.899C>A (p.Ala300Glu) c.782+573C>A (n.782+573C>A) c.803C>A (p.Ala268Glu) c.443C>A (p.Ala148Glu) c.887C>A (p.Ala296Glu) | dbSNP |
| 17 | g.7673609_7673613del | CA2573154631 | TP53 | c.920-4_920del c.524-4_524del c.641-4_641del c.899-4_899del c.782+569_782+573del (n.782+569_782+573del) c.803-4_803del c.443-4_443del c.887-4_887del | ClinVar dbSNP |
| 17 | g.7673609C>A | CA397836174 | TP53 | c.920-1G>T (n.920-1G>T) c.524-1G>T (n.524-1G>T) c.641-1G>T (n.641-1G>T) c.899-1G>T (n.899-1G>T) c.782+572G>T (n.782+572G>T) c.803-1G>T (n.803-1G>T) c.443-1G>T (n.443-1G>T) c.887-1G>T (n.887-1G>T) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673609C= | CA2245948059 | TP53 | c.920-1G= (n.920-1G=) c.524-1G= (n.524-1G=) c.641-1G= (n.641-1G=) c.899-1G= (n.899-1G=) c.782+572G= (n.782+572G=) c.803-1G= (n.803-1G=) c.443-1G= (n.443-1G=) c.887-1G= (n.887-1G=) | |
| 17 | g.7673609C>G | CA16615686 | TP53 | c.920-1G>C (n.920-1G>C) c.524-1G>C (n.524-1G>C) c.641-1G>C (n.641-1G>C) c.899-1G>C (n.899-1G>C) c.782+572G>C (n.782+572G>C) c.803-1G>C (n.803-1G>C) c.443-1G>C (n.443-1G>C) c.887-1G>C (n.887-1G>C) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673609C>T | CA000499 | TP53 | c.920-1G>A (n.920-1G>A) c.524-1G>A (n.524-1G>A) c.641-1G>A (n.641-1G>A) c.899-1G>A (n.899-1G>A) c.782+572G>A (n.782+572G>A) c.803-1G>A (n.803-1G>A) c.443-1G>A (n.443-1G>A) c.887-1G>A (n.887-1G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673611_7673702del | CA2556749014 | TP53 | c.919+1_920-1del c.523+1_524-1del c.640+1_641-1del c.898+1_899-1del c.782+481_782+572del (n.782+481_782+572del) c.802+1_803-1del c.442+1_443-1del c.886+1_887-1del | |
| 17 | g.7673610T>A | CA397836180 | TP53 | c.920-2A>T (n.920-2A>T) c.524-2A>T (n.524-2A>T) c.641-2A>T (n.641-2A>T) c.899-2A>T (n.899-2A>T) c.782+571A>T (n.782+571A>T) c.803-2A>T (n.803-2A>T) c.443-2A>T (n.443-2A>T) c.887-2A>T (n.887-2A>T) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673610T>C | CA000500 | TP53 | c.920-2A>G (n.920-2A>G) c.524-2A>G (n.524-2A>G) c.641-2A>G (n.641-2A>G) c.899-2A>G (n.899-2A>G) c.782+571A>G (n.782+571A>G) c.803-2A>G (n.803-2A>G) c.443-2A>G (n.443-2A>G) c.887-2A>G (n.887-2A>G) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673610T>G | CA397836182 | TP53 | c.920-2A>C (n.920-2A>C) c.524-2A>C (n.524-2A>C) c.641-2A>C (n.641-2A>C) c.899-2A>C (n.899-2A>C) c.782+571A>C (n.782+571A>C) c.803-2A>C (n.803-2A>C) c.443-2A>C (n.443-2A>C) c.887-2A>C (n.887-2A>C) | COSMIC |
| 17 | g.7673610T= | CA2245948085 | TP53 | c.920-2A= (n.920-2A=) c.524-2A= (n.524-2A=) c.641-2A= (n.641-2A=) c.899-2A= (n.899-2A=) c.782+571A= (n.782+571A=) c.803-2A= (n.803-2A=) c.443-2A= (n.443-2A=) c.887-2A= (n.887-2A=) | |
| 17 | g.7673610_7673622delinsTAGGAAAGAGGCA | CA2245948075 | TP53 | c.920-14_920-2delinsTGCCTCTTTCCTA (n.920-14_920-2delinsTGCCTCTTTCCTA) c.524-14_524-2delinsTGCCTCTTTCCTA (n.524-14_524-2delinsTGCCTCTTTCCTA) c.641-14_641-2delinsTGCCTCTTTCCTA (n.641-14_641-2delinsTGCCTCTTTCCTA) c.899-14_899-2delinsTGCCTCTTTCCTA (n.899-14_899-2delinsTGCCTCTTTCCTA) c.782+559_782+571delinsTGCCTCTTTCCTA (n.782+559_782+571delinsTGCCTCTTTCCTA) c.803-14_803-2delinsTGCCTCTTTCCTA (n.803-14_803-2delinsTGCCTCTTTCCTA) c.443-14_443-2delinsTGCCTCTTTCCTA (n.443-14_443-2delinsTGCCTCTTTCCTA) c.887-14_887-2delinsTGCCTCTTTCCTA (n.887-14_887-2delinsTGCCTCTTTCCTA) | |
| 17 | g.7673611A= | CA2245948094 | TP53 | c.920-3T= (n.920-3T=) c.524-3T= (n.524-3T=) c.641-3T= (n.641-3T=) c.899-3T= (n.899-3T=) c.782+570T= (n.782+570T=) c.803-3T= (n.803-3T=) c.443-3T= (n.443-3T=) c.887-3T= (n.887-3T=) | |
| 17 | g.7673611A>G | CA658656531 | TP53 | c.920-3T>C (n.920-3T>C) c.524-3T>C (n.524-3T>C) c.641-3T>C (n.641-3T>C) c.899-3T>C (n.899-3T>C) c.782+570T>C (n.782+570T>C) c.803-3T>C (n.803-3T>C) c.443-3T>C (n.443-3T>C) c.887-3T>C (n.887-3T>C) | ClinVar dbSNP gnomAD v4 |