| 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.7673558_7673580dup | CA645587351 | TP53 | c.948_970dup (p.Asp324AlafsTer29) c.552_574dup (p.Asp192AlafsTer29) c.669_691dup (p.Asp231AlafsTer29) c.927_949dup (p.Asp317AlafsTer29) c.948_970dup (p.Asp324AlafsTer36) c.782+601_782+623dup (n.782+601_782+623dup) c.948_970dup (p.Asp324AlafsTer35) c.948_970dup (p.Asp324AlafsTer27) c.552_574dup (p.Asp192AlafsTer27) c.552_574dup (p.Asp192AlafsTer?) c.552_574dup (p.Asp192AlafsTer35) c.8_30dup c.831_853dup (p.Asp285AlafsTer29) c.831_853dup (p.Asp285AlafsTer27) c.471_493dup (p.Asp165AlafsTer27) c.915_937dup (p.Asp313AlafsTer29) c.471_493dup (p.Asp165AlafsTer35) c.471_493dup (p.Asp165AlafsTer29) c.831_853dup (p.Asp285AlafsTer35) | COSMIC |
| 17 | g.7673562_7673586del | CA645587353 | TP53 | c.944_968del (p.Ser315TrpfsTer22) c.548_572del (p.Ser183TrpfsTer22) c.665_689del (p.Ser222TrpfsTer22) c.923_947del (p.Ser308TrpfsTer22) c.944_968del (p.Ser315TrpfsTer29) c.782+597_782+621del (n.782+597_782+621del) c.944_968del (p.Ser315TrpfsTer28) c.944_968del (p.Ser315TrpfsTer20) c.548_572del (p.Ser183TrpfsTer20) c.548_572del (p.Ser183TrpfsTer?) c.548_572del (p.Ser183TrpfsTer28) c.4_28del c.827_851del (p.Ser276TrpfsTer22) c.827_851del (p.Ser276TrpfsTer20) c.467_491del (p.Ser156TrpfsTer20) c.911_935del (p.Ser304TrpfsTer22) c.467_491del (p.Ser156TrpfsTer28) c.467_491del (p.Ser156TrpfsTer22) c.827_851del (p.Ser276TrpfsTer28) | COSMIC |
| 17 | g.7673565T>A | CA397835878 | TP53 | c.963A>T (p.Lys321Asn) c.567A>T (p.Lys189Asn) c.684A>T (p.Lys228Asn) c.942A>T (p.Lys314Asn) c.782+616A>T (n.782+616A>T) c.23A>T c.846A>T (p.Lys282Asn) c.486A>T (p.Lys162Asn) c.930A>T (p.Lys310Asn) | dbSNP |
| 17 | g.7673565T>C | CA497713967 | TP53 | c.963A>G (p.Lys321=) c.567A>G (p.Lys189=) c.684A>G (p.Lys228=) c.942A>G (p.Lys314=) c.782+616A>G (n.782+616A>G) c.23A>G c.846A>G (p.Lys282=) c.486A>G (p.Lys162=) c.930A>G (p.Lys310=) | ClinVar dbSNP COSMIC |
| 17 | g.7673565T>G | CA397835879 | TP53 | c.963A>C (p.Lys321Asn) c.567A>C (p.Lys189Asn) c.684A>C (p.Lys228Asn) c.942A>C (p.Lys314Asn) c.782+616A>C (n.782+616A>C) c.23A>C c.846A>C (p.Lys282Asn) c.486A>C (p.Lys162Asn) c.930A>C (p.Lys310Asn) | dbSNP |
| 17 | g.7673567dup | CA645587355 | TP53 | c.963dup (p.Pro322ThrfsTer15) c.567dup (p.Pro190ThrfsTer15) c.684dup (p.Pro229ThrfsTer15) c.942dup (p.Pro315ThrfsTer15) c.963dup (p.Pro322ThrfsTer?) c.782+616dup (n.782+616dup) c.963dup (p.Pro322ThrfsTer25) c.963dup (p.Pro322ThrfsTer14) c.567dup (p.Pro190ThrfsTer14) c.567dup (p.Pro190ThrfsTer?) c.567dup (p.Pro190ThrfsTer25) c.23dup c.846dup (p.Pro283ThrfsTer15) c.846dup (p.Pro283ThrfsTer14) c.486dup (p.Pro163ThrfsTer14) c.930dup (p.Pro311ThrfsTer15) c.486dup (p.Pro163ThrfsTer25) c.486dup (p.Pro163ThrfsTer15) c.846dup (p.Pro283ThrfsTer25) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673567del | CA497713971 | TP53 | c.963del (p.Lys321AsnfsTer24) c.567del (p.Lys189AsnfsTer24) c.684del (p.Lys228AsnfsTer24) c.942del (p.Lys314AsnfsTer24) c.963del (p.Lys321AsnfsTer?) c.782+616del (n.782+616del) c.963del (p.Lys321AsnfsTer30) c.963del (p.Lys321AsnfsTer22) c.567del (p.Lys189AsnfsTer22) c.567del (p.Lys189AsnfsTer?) c.567del (p.Lys189AsnfsTer30) c.23del c.846del (p.Lys282AsnfsTer24) c.846del (p.Lys282AsnfsTer22) c.486del (p.Lys162AsnfsTer22) c.930del (p.Lys310AsnfsTer24) c.486del (p.Lys162AsnfsTer30) c.486del (p.Lys162AsnfsTer24) c.846del (p.Lys282AsnfsTer30) | COSMIC |
| 17 | g.7673565_7673568delinsTTTC | CA2245947676 | TP53 | c.960_963delinsGAAA (p.Lys320=) c.564_567delinsGAAA (p.Lys188=) c.681_684delinsGAAA (p.Lys227=) c.939_942delinsGAAA (p.Lys313=) c.782+613_782+616delinsGAAA (n.782+613_782+616delinsGAAA) c.20_23delinsGAAA c.843_846delinsGAAA (p.Lys281=) c.483_486delinsGAAA (p.Lys161=) c.927_930delinsGAAA (p.Lys309=) | |
| 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.7673566T>A | CA397835881 | TP53 | c.962A>T (p.Lys321Ile) c.566A>T (p.Lys189Ile) c.683A>T (p.Lys228Ile) c.941A>T (p.Lys314Ile) c.782+615A>T (n.782+615A>T) c.22A>T c.845A>T (p.Lys282Ile) c.485A>T (p.Lys162Ile) c.929A>T (p.Lys310Ile) | dbSNP |
| 17 | g.7673566T>C | CA397835882 | TP53 | c.962A>G (p.Lys321Arg) c.566A>G (p.Lys189Arg) c.683A>G (p.Lys228Arg) c.941A>G (p.Lys314Arg) c.782+615A>G (n.782+615A>G) c.22A>G c.845A>G (p.Lys282Arg) c.485A>G (p.Lys162Arg) c.929A>G (p.Lys310Arg) | dbSNP |
| 17 | g.7673566T>G | CA397835886 | TP53 | c.962A>C (p.Lys321Thr) c.566A>C (p.Lys189Thr) c.683A>C (p.Lys228Thr) c.941A>C (p.Lys314Thr) c.782+615A>C (n.782+615A>C) c.22A>C c.845A>C (p.Lys282Thr) c.485A>C (p.Lys162Thr) c.929A>C (p.Lys310Thr) | dbSNP |
| 17 | g.7673571_7673573dup | CA645587357 | TP53 | c.960_962dup (p.Lys321_Pro322insLys) c.564_566dup (p.Lys189_Pro190insLys) c.681_683dup (p.Lys228_Pro229insLys) c.939_941dup (p.Lys314_Pro315insLys) c.782+613_782+615dup (n.782+613_782+615dup) c.20_22dup c.843_845dup (p.Lys282_Pro283insLys) c.483_485dup (p.Lys162_Pro163insLys) c.927_929dup (p.Lys310_Pro311insLys) | COSMIC COSMIC |
| 17 | g.7673571_7673573del | CA891844039 | TP53 | c.960_962del (p.Lys321del) c.564_566del (p.Lys189del) c.681_683del (p.Lys228del) c.939_941del (p.Lys314del) c.782+613_782+615del (n.782+613_782+615del) c.20_22del c.843_845del (p.Lys282del) c.483_485del (p.Lys162del) c.927_929del (p.Lys310del) | ClinVar dbSNP |
| 17 | g.7673567T>A | CA397835889 | TP53 | c.961A>T (p.Lys321Ter) c.565A>T (p.Lys189Ter) c.682A>T (p.Lys228Ter) c.940A>T (p.Lys314Ter) c.782+614A>T (n.782+614A>T) c.21A>T c.844A>T (p.Lys282Ter) c.484A>T (p.Lys162Ter) c.928A>T (p.Lys310Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673567T>C | CA397835893 | TP53 | c.961A>G (p.Lys321Glu) c.565A>G (p.Lys189Glu) c.682A>G (p.Lys228Glu) c.940A>G (p.Lys314Glu) c.782+614A>G (n.782+614A>G) c.21A>G c.844A>G (p.Lys282Glu) c.484A>G (p.Lys162Glu) c.928A>G (p.Lys310Glu) | |
| 17 | g.7673567T>G | CA397835894 | TP53 | c.961A>C (p.Lys321Gln) c.565A>C (p.Lys189Gln) c.682A>C (p.Lys228Gln) c.940A>C (p.Lys314Gln) c.782+614A>C (n.782+614A>C) c.21A>C c.844A>C (p.Lys282Gln) c.484A>C (p.Lys162Gln) c.928A>C (p.Lys310Gln) | |
| 17 | g.7673567T= | CA2245947687 | TP53 | c.961A= (p.Lys321=) c.565A= (p.Lys189=) c.682A= (p.Lys228=) c.940A= (p.Lys314=) c.782+614A= (n.782+614A=) c.21A= c.844A= (p.Lys282=) c.484A= (p.Lys162=) c.928A= (p.Lys310=) | |
| 17 | g.7673568del | CA645587358 | TP53 | c.960del (p.Lys321AsnfsTer24) c.564del (p.Lys189AsnfsTer24) c.681del (p.Lys228AsnfsTer24) c.939del (p.Lys314AsnfsTer24) c.960del (p.Lys321AsnfsTer?) c.782+613del (n.782+613del) c.960del (p.Lys321AsnfsTer22) c.564del (p.Lys189AsnfsTer22) c.564del (p.Lys189AsnfsTer?) c.20del c.843del (p.Lys282AsnfsTer24) c.843del (p.Lys282AsnfsTer22) c.483del (p.Lys162AsnfsTer22) c.927del (p.Lys310AsnfsTer24) c.483del (p.Lys162AsnfsTer?) c.483del (p.Lys162AsnfsTer24) c.843del (p.Lys282AsnfsTer?) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673568C>A | CA397835895 | TP53 | c.960G>T (p.Lys320Asn) c.564G>T (p.Lys188Asn) c.681G>T (p.Lys227Asn) c.939G>T (p.Lys313Asn) c.782+613G>T (n.782+613G>T) c.20G>T c.843G>T (p.Lys281Asn) c.483G>T (p.Lys161Asn) c.927G>T (p.Lys309Asn) | dbSNP |
| 17 | g.7673568C>G | CA397835897 | TP53 | c.960G>C (p.Lys320Asn) c.564G>C (p.Lys188Asn) c.681G>C (p.Lys227Asn) c.939G>C (p.Lys313Asn) c.782+613G>C (n.782+613G>C) c.20G>C c.843G>C (p.Lys281Asn) c.483G>C (p.Lys161Asn) c.927G>C (p.Lys309Asn) | dbSNP COSMIC |
| 17 | g.7673568C>T | CA497713987 | TP53 | c.960G>A (p.Lys320=) c.564G>A (p.Lys188=) c.681G>A (p.Lys227=) c.939G>A (p.Lys313=) c.782+613G>A (n.782+613G>A) c.20G>A c.843G>A (p.Lys281=) c.483G>A (p.Lys161=) c.927G>A (p.Lys309=) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673569T>A | CA397835903 | TP53 | c.959A>T (p.Lys320Met) c.563A>T (p.Lys188Met) c.680A>T (p.Lys227Met) c.938A>T (p.Lys313Met) c.782+612A>T (n.782+612A>T) c.19A>T c.842A>T (p.Lys281Met) c.482A>T (p.Lys161Met) c.926A>T (p.Lys309Met) | dbSNP |
| 17 | g.7673569T>C | CA397835905 | TP53 | c.959A>G (p.Lys320Arg) c.563A>G (p.Lys188Arg) c.680A>G (p.Lys227Arg) c.938A>G (p.Lys313Arg) c.782+612A>G (n.782+612A>G) c.19A>G c.842A>G (p.Lys281Arg) c.482A>G (p.Lys161Arg) c.926A>G (p.Lys309Arg) | dbSNP |
| 17 | g.7673569T>G | CA397835900 | TP53 | c.959A>C (p.Lys320Thr) c.563A>C (p.Lys188Thr) c.680A>C (p.Lys227Thr) c.938A>C (p.Lys313Thr) c.782+612A>C (n.782+612A>C) c.19A>C c.842A>C (p.Lys281Thr) c.482A>C (p.Lys161Thr) c.926A>C (p.Lys309Thr) | |
| 17 | g.7673570del | CA497714003 | TP53 | c.959del (p.Lys320ArgfsTer25) c.563del (p.Lys188ArgfsTer25) c.680del (p.Lys227ArgfsTer25) c.938del (p.Lys313ArgfsTer25) c.959del (p.Lys320ArgfsTer?) c.782+612del (n.782+612del) c.959del (p.Lys320ArgfsTer23) c.563del (p.Lys188ArgfsTer23) c.563del (p.Lys188ArgfsTer?) c.19del c.842del (p.Lys281ArgfsTer25) c.842del (p.Lys281ArgfsTer23) c.482del (p.Lys161ArgfsTer23) c.926del (p.Lys309ArgfsTer25) c.482del (p.Lys161ArgfsTer?) c.482del (p.Lys161ArgfsTer25) c.842del (p.Lys281ArgfsTer?) | COSMIC |
| 17 | g.7673570T>A | CA397835908 | TP53 | c.958A>T (p.Lys320Ter) c.562A>T (p.Lys188Ter) c.679A>T (p.Lys227Ter) c.937A>T (p.Lys313Ter) c.782+611A>T (n.782+611A>T) c.18A>T c.841A>T (p.Lys281Ter) c.481A>T (p.Lys161Ter) c.925A>T (p.Lys309Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673570T>C | CA397835912 | TP53 | c.958A>G (p.Lys320Glu) c.562A>G (p.Lys188Glu) c.679A>G (p.Lys227Glu) c.937A>G (p.Lys313Glu) c.782+611A>G (n.782+611A>G) c.18A>G c.841A>G (p.Lys281Glu) c.481A>G (p.Lys161Glu) c.925A>G (p.Lys309Glu) | dbSNP |
| 17 | g.7673570T>G | CA397835915 | TP53 | c.958A>C (p.Lys320Gln) c.562A>C (p.Lys188Gln) c.679A>C (p.Lys227Gln) c.937A>C (p.Lys313Gln) c.782+611A>C (n.782+611A>C) c.18A>C c.841A>C (p.Lys281Gln) c.481A>C (p.Lys161Gln) c.925A>C (p.Lys309Gln) | |
| 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.7673571del | CA645587364 | TP53 | c.957del (p.Lys320ArgfsTer25) c.561del (p.Lys188ArgfsTer25) c.678del (p.Lys227ArgfsTer25) c.936del (p.Lys313ArgfsTer25) c.957del (p.Lys320ArgfsTer?) c.782+610del (n.782+610del) c.957del (p.Lys320ArgfsTer23) c.561del (p.Lys188ArgfsTer23) c.561del (p.Lys188ArgfsTer?) c.17del c.840del (p.Lys281ArgfsTer25) c.840del (p.Lys281ArgfsTer23) c.480del (p.Lys161ArgfsTer23) c.924del (p.Lys309ArgfsTer25) c.480del (p.Lys161ArgfsTer?) c.480del (p.Lys161ArgfsTer25) c.840del (p.Lys281ArgfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673571C>A | CA397835919 | TP53 | c.957G>T (p.Lys319Asn) c.561G>T (p.Lys187Asn) c.678G>T (p.Lys226Asn) c.936G>T (p.Lys312Asn) c.782+610G>T (n.782+610G>T) c.17G>T c.840G>T (p.Lys280Asn) c.480G>T (p.Lys160Asn) c.924G>T (p.Lys308Asn) | dbSNP COSMIC |
| 17 | g.7673571C>G | CA397835921 | TP53 | c.957G>C (p.Lys319Asn) c.561G>C (p.Lys187Asn) c.678G>C (p.Lys226Asn) c.936G>C (p.Lys312Asn) c.782+610G>C (n.782+610G>C) c.17G>C c.840G>C (p.Lys280Asn) c.480G>C (p.Lys160Asn) c.924G>C (p.Lys308Asn) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673571C>T | CA497714016 | TP53 | c.957G>A (p.Lys319=) c.561G>A (p.Lys187=) c.678G>A (p.Lys226=) c.936G>A (p.Lys312=) c.782+610G>A (n.782+610G>A) c.17G>A c.840G>A (p.Lys280=) c.480G>A (p.Lys160=) c.924G>A (p.Lys308=) | dbSNP COSMIC |
| 17 | g.7673572T>A | CA397835924 | TP53 | c.956A>T (p.Lys319Met) c.560A>T (p.Lys187Met) c.677A>T (p.Lys226Met) c.935A>T (p.Lys312Met) c.782+609A>T (n.782+609A>T) c.16A>T c.839A>T (p.Lys280Met) c.479A>T (p.Lys160Met) c.923A>T (p.Lys308Met) | dbSNP |
| 17 | g.7673572T>C | CA397835927 | TP53 | c.956A>G (p.Lys319Arg) c.560A>G (p.Lys187Arg) c.677A>G (p.Lys226Arg) c.935A>G (p.Lys312Arg) c.782+609A>G (n.782+609A>G) c.16A>G c.839A>G (p.Lys280Arg) c.479A>G (p.Lys160Arg) c.923A>G (p.Lys308Arg) | dbSNP COSMIC |
| 17 | g.7673572T>G | CA397835930 | TP53 | c.956A>C (p.Lys319Thr) c.560A>C (p.Lys187Thr) c.677A>C (p.Lys226Thr) c.935A>C (p.Lys312Thr) c.782+609A>C (n.782+609A>C) c.16A>C c.839A>C (p.Lys280Thr) c.479A>C (p.Lys160Thr) c.923A>C (p.Lys308Thr) | |
| 17 | g.7673573T>A | CA397835934 | TP53 | c.955A>T (p.Lys319Ter) c.559A>T (p.Lys187Ter) c.676A>T (p.Lys226Ter) c.934A>T (p.Lys312Ter) c.782+608A>T (n.782+608A>T) c.15A>T c.838A>T (p.Lys280Ter) c.478A>T (p.Lys160Ter) c.922A>T (p.Lys308Ter) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673573T>C | CA397835937 | TP53 | c.955A>G (p.Lys319Glu) c.559A>G (p.Lys187Glu) c.676A>G (p.Lys226Glu) c.934A>G (p.Lys312Glu) c.782+608A>G (n.782+608A>G) c.15A>G c.838A>G (p.Lys280Glu) c.478A>G (p.Lys160Glu) c.922A>G (p.Lys308Glu) | COSMIC |
| 17 | g.7673573T>G | CA397835940 | TP53 | c.955A>C (p.Lys319Gln) c.559A>C (p.Lys187Gln) c.676A>C (p.Lys226Gln) c.934A>C (p.Lys312Gln) c.782+608A>C (n.782+608A>C) c.15A>C c.838A>C (p.Lys280Gln) c.478A>C (p.Lys160Gln) c.922A>C (p.Lys308Gln) | |
| 17 | g.7673573_7673577delinsTTGGC | CA2245947690 | TP53 | c.951_955delinsGCCAA (p.Gln317=) c.555_559delinsGCCAA (p.Gln185=) c.672_676delinsGCCAA (p.Gln224=) c.930_934delinsGCCAA (p.Gln310=) c.782+604_782+608delinsGCCAA (n.782+604_782+608delinsGCCAA) c.11_15delinsGCCAA c.834_838delinsGCCAA (p.Gln278=) c.474_478delinsGCCAA (p.Gln158=) c.918_922delinsGCCAA (p.Gln306=) | |
| 17 | g.7673574T>A | CA497714040 | TP53 | c.954A>T (p.Pro318=) c.558A>T (p.Pro186=) c.675A>T (p.Pro225=) c.933A>T (p.Pro311=) c.782+607A>T (n.782+607A>T) c.14A>T c.837A>T (p.Pro279=) c.477A>T (p.Pro159=) c.921A>T (p.Pro307=) | ClinVar |
| 17 | g.7673574T>C | CA497714031 | TP53 | c.954A>G (p.Pro318=) c.558A>G (p.Pro186=) c.675A>G (p.Pro225=) c.933A>G (p.Pro311=) c.782+607A>G (n.782+607A>G) c.14A>G c.837A>G (p.Pro279=) c.477A>G (p.Pro159=) c.921A>G (p.Pro307=) | ClinVar dbSNP |
| 17 | g.7673574T>G | CA001195 | TP53 | c.954A>C (p.Pro318=) c.558A>C (p.Pro186=) c.675A>C (p.Pro225=) c.933A>C (p.Pro311=) c.782+607A>C (n.782+607A>C) c.14A>C c.837A>C (p.Pro279=) c.477A>C (p.Pro159=) c.921A>C (p.Pro307=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7673574T= | CA2245947701 | TP53 | c.954A= (p.Pro318=) c.558A= (p.Pro186=) c.675A= (p.Pro225=) c.933A= (p.Pro311=) c.782+607A= (n.782+607A=) c.14A= c.837A= (p.Pro279=) c.477A= (p.Pro159=) c.921A= (p.Pro307=) | |
| 17 | g.7673577_7673580dup | CA645587367 | TP53 | c.951_954dup (p.Lys319AlafsTer19) c.555_558dup (p.Lys187AlafsTer19) c.672_675dup (p.Lys226AlafsTer19) c.930_933dup (p.Lys312AlafsTer19) c.951_954dup (p.Lys319AlafsTer?) c.782+604_782+607dup (n.782+604_782+607dup) c.951_954dup (p.Lys319AlafsTer29) c.951_954dup (p.Lys319AlafsTer18) c.555_558dup (p.Lys187AlafsTer18) c.555_558dup (p.Lys187AlafsTer?) c.555_558dup (p.Lys187AlafsTer29) c.11_14dup c.834_837dup (p.Lys280AlafsTer19) c.834_837dup (p.Lys280AlafsTer18) c.474_477dup (p.Lys160AlafsTer18) c.918_921dup (p.Lys308AlafsTer19) c.474_477dup (p.Lys160AlafsTer29) c.474_477dup (p.Lys160AlafsTer19) c.834_837dup (p.Lys280AlafsTer29) | COSMIC COSMIC |