| 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.7673598G>A | CA497714331 | TP53 | c.930C>T (p.Asn310=) c.534C>T (p.Asn178=) c.651C>T (p.Asn217=) c.909C>T (p.Asn303=) c.782+583C>T (n.782+583C>T) c.813C>T (p.Asn271=) c.453C>T (p.Asn151=) c.897C>T (p.Asn299=) | ClinVar dbSNP |
| 17 | g.7673598G>C | CA397836109 | TP53 | c.930C>G (p.Asn310Lys) c.534C>G (p.Asn178Lys) c.651C>G (p.Asn217Lys) c.909C>G (p.Asn303Lys) c.782+583C>G (n.782+583C>G) c.813C>G (p.Asn271Lys) c.453C>G (p.Asn151Lys) c.897C>G (p.Asn299Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7673598G= | CA2245947967 | TP53 | c.930C= (p.Asn310=) c.534C= (p.Asn178=) c.651C= (p.Asn217=) c.909C= (p.Asn303=) c.782+583C= (n.782+583C=) c.813C= (p.Asn271=) c.453C= (p.Asn151=) c.897C= (p.Asn299=) | |
| 17 | g.7673598G>T | CA10580910 | TP53 | c.930C>A (p.Asn310Lys) c.534C>A (p.Asn178Lys) c.651C>A (p.Asn217Lys) c.909C>A (p.Asn303Lys) c.782+583C>A (n.782+583C>A) c.813C>A (p.Asn271Lys) c.453C>A (p.Asn151Lys) c.897C>A (p.Asn299Lys) | ClinVar dbSNP |
| 17 | g.7673598_7673600delinsCAA | CA645587381 | TP53 | c.928_930delinsTTG (p.Asn310Leu) c.532_534delinsTTG (p.Asn178Leu) c.649_651delinsTTG (p.Asn217Leu) c.907_909delinsTTG (p.Asn303Leu) c.782+581_782+583delinsTTG (n.782+581_782+583delinsTTG) c.811_813delinsTTG (p.Asn271Leu) c.451_453delinsTTG (p.Asn151Leu) c.895_897delinsTTG (p.Asn299Leu) | COSMIC |
| 17 | g.7673598_7673599insA | CA645587383 | TP53 | c.929_930insT (p.Asn311GlnfsTer26) c.533_534insT (p.Asn179GlnfsTer26) c.650_651insT (p.Asn218GlnfsTer26) c.908_909insT (p.Asn304GlnfsTer26) c.929_930insT (p.Asn311GlnfsTer?) c.782+582_782+583insT (n.782+582_782+583insT) c.929_930insT (p.Asn311GlnfsTer25) c.533_534insT (p.Asn179GlnfsTer25) c.533_534insT (p.Asn179GlnfsTer?) c.812_813insT (p.Asn272GlnfsTer26) c.812_813insT (p.Asn272GlnfsTer25) c.452_453insT (p.Asn152GlnfsTer25) c.896_897insT (p.Asn300GlnfsTer26) c.452_453insT (p.Asn152GlnfsTer?) c.452_453insT (p.Asn152GlnfsTer26) c.812_813insT (p.Asn272GlnfsTer?) | COSMIC |
| 17 | g.7673599T>A | CA397836112 | TP53 | c.929A>T (p.Asn310Ile) c.533A>T (p.Asn178Ile) c.650A>T (p.Asn217Ile) c.908A>T (p.Asn303Ile) c.782+582A>T (n.782+582A>T) c.812A>T (p.Asn271Ile) c.452A>T (p.Asn151Ile) c.896A>T (p.Asn299Ile) | ClinVar dbSNP |
| 17 | g.7673599T>C | CA397836116 | TP53 | c.929A>G (p.Asn310Ser) c.533A>G (p.Asn178Ser) c.650A>G (p.Asn217Ser) c.908A>G (p.Asn303Ser) c.782+582A>G (n.782+582A>G) c.812A>G (p.Asn271Ser) c.452A>G (p.Asn151Ser) c.896A>G (p.Asn299Ser) | ClinVar dbSNP |
| 17 | g.7673599T>G | CA397836117 | TP53 | c.929A>C (p.Asn310Thr) c.533A>C (p.Asn178Thr) c.650A>C (p.Asn217Thr) c.908A>C (p.Asn303Thr) c.782+582A>C (n.782+582A>C) c.812A>C (p.Asn271Thr) c.452A>C (p.Asn151Thr) c.896A>C (p.Asn299Thr) | dbSNP COSMIC |
| 17 | g.7673600dup | CA497714339 | TP53 | c.929dup (p.Asn310LysfsTer27) c.533dup (p.Asn178LysfsTer27) c.650dup (p.Asn217LysfsTer27) c.908dup (p.Asn303LysfsTer27) c.929dup (p.Asn310LysfsTer?) c.782+582dup (n.782+582dup) c.929dup (p.Asn310LysfsTer26) c.533dup (p.Asn178LysfsTer26) c.533dup (p.Asn178LysfsTer?) c.812dup (p.Asn271LysfsTer27) c.812dup (p.Asn271LysfsTer26) c.452dup (p.Asn151LysfsTer26) c.896dup (p.Asn299LysfsTer27) c.452dup (p.Asn151LysfsTer?) c.452dup (p.Asn151LysfsTer27) c.812dup (p.Asn271LysfsTer?) | |
| 17 | g.7673600T>A | CA397836121 | TP53 | c.928A>T (p.Asn310Tyr) c.532A>T (p.Asn178Tyr) c.649A>T (p.Asn217Tyr) c.907A>T (p.Asn303Tyr) c.782+581A>T (n.782+581A>T) c.811A>T (p.Asn271Tyr) c.451A>T (p.Asn151Tyr) c.895A>T (p.Asn299Tyr) | |
| 17 | g.7673600T>C | CA397836124 | TP53 | c.928A>G (p.Asn310Asp) c.532A>G (p.Asn178Asp) c.649A>G (p.Asn217Asp) c.907A>G (p.Asn303Asp) c.782+581A>G (n.782+581A>G) c.811A>G (p.Asn271Asp) c.451A>G (p.Asn151Asp) c.895A>G (p.Asn299Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673600T>G | CA397836126 | TP53 | c.928A>C (p.Asn310His) c.532A>C (p.Asn178His) c.649A>C (p.Asn217His) c.907A>C (p.Asn303His) c.782+581A>C (n.782+581A>C) c.811A>C (p.Asn271His) c.451A>C (p.Asn151His) c.895A>C (p.Asn299His) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673600T= | CA2245947978 | TP53 | c.928A= (p.Asn310=) c.532A= (p.Asn178=) c.649A= (p.Asn217=) c.907A= (p.Asn303=) c.782+581A= (n.782+581A=) c.811A= (p.Asn271=) c.451A= (p.Asn151=) c.895A= (p.Asn299=) | |
| 17 | g.7673600_7673601delinsTG | CA2245947981 | TP53 | c.927_928delinsCA (p.Pro309=) c.531_532delinsCA (p.Pro177=) c.648_649delinsCA (p.Pro216=) c.906_907delinsCA (p.Pro302=) c.782+580_782+581delinsCA (n.782+580_782+581delinsCA) c.810_811delinsCA (p.Pro270=) c.450_451delinsCA (p.Pro150=) c.894_895delinsCA (p.Pro298=) | |
| 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.7673601G>A | CA497714349 | TP53 | c.927C>T (p.Pro309=) c.531C>T (p.Pro177=) c.648C>T (p.Pro216=) c.906C>T (p.Pro302=) c.782+580C>T (n.782+580C>T) c.810C>T (p.Pro270=) c.450C>T (p.Pro150=) c.894C>T (p.Pro298=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7673601G>C | CA497714350 | TP53 | c.927C>G (p.Pro309=) c.531C>G (p.Pro177=) c.648C>G (p.Pro216=) c.906C>G (p.Pro302=) c.782+580C>G (n.782+580C>G) c.810C>G (p.Pro270=) c.450C>G (p.Pro150=) c.894C>G (p.Pro298=) | dbSNP |
| 17 | g.7673601G= | CA2245947993 | TP53 | c.927C= (p.Pro309=) c.531C= (p.Pro177=) c.648C= (p.Pro216=) c.906C= (p.Pro302=) c.782+580C= (n.782+580C=) c.810C= (p.Pro270=) c.450C= (p.Pro150=) c.894C= (p.Pro298=) | |
| 17 | g.7673601G>T | CA497714352 | TP53 | c.927C>A (p.Pro309=) c.531C>A (p.Pro177=) c.648C>A (p.Pro216=) c.906C>A (p.Pro302=) c.782+580C>A (n.782+580C>A) c.810C>A (p.Pro270=) c.450C>A (p.Pro150=) c.894C>A (p.Pro298=) | ClinVar dbSNP 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.7673602G>A | CA397836130 | TP53 | c.926C>T (p.Pro309Leu) c.530C>T (p.Pro177Leu) c.647C>T (p.Pro216Leu) c.905C>T (p.Pro302Leu) c.782+579C>T (n.782+579C>T) c.809C>T (p.Pro270Leu) c.449C>T (p.Pro150Leu) c.893C>T (p.Pro298Leu) | ClinVar dbSNP |
| 17 | g.7673602G>C | CA397836137 | TP53 | c.926C>G (p.Pro309Arg) c.530C>G (p.Pro177Arg) c.647C>G (p.Pro216Arg) c.905C>G (p.Pro302Arg) c.782+579C>G (n.782+579C>G) c.809C>G (p.Pro270Arg) c.449C>G (p.Pro150Arg) c.893C>G (p.Pro298Arg) | dbSNP COSMIC |
| 17 | g.7673602G>T | CA397836134 | TP53 | c.926C>A (p.Pro309His) c.530C>A (p.Pro177His) c.647C>A (p.Pro216His) c.905C>A (p.Pro302His) c.782+579C>A (n.782+579C>A) c.809C>A (p.Pro270His) c.449C>A (p.Pro150His) c.893C>A (p.Pro298His) | dbSNP |
| 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 |