| 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.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.7674965_7675432del | CA1139665126 | TP53 | c.376-196_566del c.-21-196_170del c.97-196_287del c.376-217_545del c.-217_170del n.632-196_822del c.259-196_449del c.-298_89del c.341-194_533del | ClinVar |
| 17 | g.7675174_7675203del | CA645589114 | TP53 | c.409_438del (p.Leu137_Trp146del) c.13_42del (p.Leu5_Trp14del) c.130_159del (p.Leu44_Trp53del) c.388_417del (p.Leu130_Trp139del) n.665_694del c.292_321del (p.Leu98_Trp107del) c.-69_-40del (n.-69_-40del) c.376_405del (p.Leu126_Trp135del) | COSMIC |
| 17 | g.7675184_7675200del | CA645589128 | TP53 | c.414_430del (p.Lys139AlafsTer4) c.18_34del (p.Lys7AlafsTer4) c.135_151del (p.Lys46AlafsTer4) c.393_409del (p.Lys132AlafsTer4) n.670_686del c.297_313del (p.Lys100AlafsTer4) c.-64_-48del (n.-64_-48del) c.381_397del (p.Lys128AlafsTer4) | COSMIC |
| 17 | g.7675185_7675202del | CA645589131 | TP53 | c.412_429del (p.Ala138_Val143del) c.16_33del (p.Ala6_Val11del) c.133_150del (p.Ala45_Val50del) c.391_408del (p.Ala131_Val136del) n.668_685del c.295_312del (p.Ala99_Val104del) c.-66_-49del (n.-66_-49del) c.379_396del (p.Ala127_Val132del) | COSMIC |
| 17 | g.7675185_7675222delinsCAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTG | CA2245929617 | TP53 | c.390_427delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu130=) c.-7_31delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG c.111_148delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu37=) c.376-7_406delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG n.646_683delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG c.273_310delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu91=) c.-88_-51delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (n.-88_-51delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG) c.357_394delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu119=) | |
| 17 | g.7675194_7675230del | CA645589135 | TP53 | c.390_426del (p.Asn131CysfsTer27) c.-7_30del c.111_147del (p.Asn38CysfsTer27) c.376-7_405del n.646_682del c.390_426del (p.Asn131CysfsTer?) c.273_309del (p.Asn92CysfsTer27) c.-88_-52del (n.-88_-52del) c.357_393del (p.Asn120CysfsTer27) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675187_7675201del | CA645589138 | TP53 | c.411_425del (p.Ala138_Pro142del) c.15_29del (p.Ala6_Pro10del) c.132_146del (p.Ala45_Pro49del) c.390_404del (p.Ala131_Pro135del) n.667_681del c.294_308del (p.Ala99_Pro103del) c.-67_-53del (n.-67_-53del) c.378_392del (p.Ala127_Pro131del) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675188_7675206delinsTTGT | CA2695223120 | TP53 | c.406_424delinsACAA (p.Gln136_Pro142delinsThrThr) c.10_28delinsACAA (p.Gln4_Pro10delinsThrThr) c.127_145delinsACAA (p.Gln43_Pro49delinsThrThr) c.385_403delinsACAA (p.Gln129_Pro135delinsThrThr) n.662_680delinsACAA c.289_307delinsACAA (p.Gln97_Pro103delinsThrThr) c.-72_-54delinsACAA (n.-72_-54delinsACAA) c.373_391delinsACAA (p.Gln125_Pro131delinsThrThr) | |
| 17 | g.7675189_7675200del | CA645589144 | TP53 | c.412_423del (p.Ala138_Cys141del) c.16_27del (p.Ala6_Cys9del) c.133_144del (p.Ala45_Cys48del) c.391_402del (p.Ala131_Cys134del) n.668_679del c.295_306del (p.Ala99_Cys102del) c.-66_-55del (n.-66_-55del) c.379_390del (p.Ala127_Cys130del) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675189_7675200delinsCTGAAT | CA658760361 | TP53 | c.412_423delinsATTCAG (p.Ala138_Cys141delinsIleGln) c.16_27delinsATTCAG (p.Ala6_Cys9delinsIleGln) c.133_144delinsATTCAG (p.Ala45_Cys48delinsIleGln) c.391_402delinsATTCAG (p.Ala131_Cys134delinsIleGln) n.668_679delinsATTCAG c.295_306delinsATTCAG (p.Ala99_Cys102delinsIleGln) c.-66_-55delinsATTCAG (n.-66_-55delinsATTCAG) c.379_390delinsATTCAG (p.Ala127_Cys130delinsIleGln) | |
| 17 | g.7675193_7675234del | CA891842263 | TP53 | c.380_421del (p.Ser127_Thr140del) c.-17_25del c.101_142del (p.Ser34_Thr47del) c.376-17_400del n.636_677del c.263_304del (p.Ser88_Thr101del) c.-98_-57del (n.-98_-57del) c.347_388del (p.Ser116_Thr129del) | |
| 17 | g.7675193_7675210del | CA645589151 | TP53 | c.402_419del (p.Cys135_Thr140del) c.6_23del (p.Cys3_Thr8del) c.123_140del (p.Cys42_Thr47del) c.381_398del (p.Cys128_Thr133del) n.658_675del c.285_302del (p.Cys96_Thr101del) c.-76_-59del (n.-76_-59del) c.369_386del (p.Cys124_Thr129del) | COSMIC |
| 17 | g.7675194_7675203delinsTCTTGGCCAG | CA2245929831 | TP53 | c.409_418delinsCTGGCCAAGA (p.Leu137=) c.13_22delinsCTGGCCAAGA (p.Leu5=) c.130_139delinsCTGGCCAAGA (p.Leu44=) c.388_397delinsCTGGCCAAGA (p.Leu130=) n.665_674delinsCTGGCCAAGA c.292_301delinsCTGGCCAAGA (p.Leu98=) c.-69_-60delinsCTGGCCAAGA (n.-69_-60delinsCTGGCCAAGA) c.376_385delinsCTGGCCAAGA (p.Leu126=) | |
| 17 | g.7675194_7675211del | CA645589154 | TP53 | c.401_418del (p.Phe134_Thr140delinsSer) c.5_22del (p.Phe2_Thr8delinsSer) c.122_139del (p.Phe41_Thr47delinsSer) c.380_397del (p.Phe127_Thr133delinsSer) n.657_674del c.284_301del (p.Phe95_Thr101delinsSer) c.-77_-60del (n.-77_-60del) c.368_385del (p.Phe123_Thr129delinsSer) | COSMIC |
| 17 | g.7675199_7675219dup | CA891842265 | TP53 | c.398_418dup (p.Lys139_Thr140insMetPheCysGlnLeuAlaLys) c.2_22dup (p.Lys7_Thr8insMetPheCysGlnLeuAlaLys) c.119_139dup (p.Lys46_Thr47insMetPheCysGlnLeuAlaLys) c.377_397dup n.654_674dup c.281_301dup (p.Lys100_Thr101insMetPheCysGlnLeuAlaLys) c.-80_-60dup (n.-80_-60dup) c.365_385dup (p.Lys128_Thr129insMetPheCysGlnLeuAlaLys) | |
| 17 | g.7675199_7675219del | CA645589152 | TP53 | c.398_418del (p.Met133_Lys139del) c.2_22del (p.Met1_Lys7del) c.119_139del (p.Met40_Lys46del) c.377_397del n.654_674del c.281_301del (p.Met94_Lys100del) c.-80_-60del (n.-80_-60del) c.365_385del (p.Met122_Lys128del) | COSMIC |
| 17 | g.7675195_7675203del | CA1139665132 | TP53 | c.409_417del (p.Leu137_Lys139del) c.13_21del (p.Leu5_Lys7del) c.130_138del (p.Leu44_Lys46del) c.388_396del (p.Leu130_Lys132del) n.665_673del c.292_300del (p.Leu98_Lys100del) c.-69_-61del (n.-69_-61del) c.376_384del (p.Leu126_Lys128del) | ClinVar dbSNP |
| 17 | g.7675195_7675206del | CA645589156 | TP53 | c.406_417del (p.Gln136_Lys139del) c.10_21del (p.Gln4_Lys7del) c.127_138del (p.Gln43_Lys46del) c.385_396del (p.Gln129_Lys132del) n.662_673del c.289_300del (p.Gln97_Lys100del) c.-72_-61del (n.-72_-61del) c.373_384del (p.Gln125_Lys128del) | COSMIC |
| 17 | g.7675195_7675208del | CA645589155 | TP53 | c.404_417del (p.Cys135TyrfsTer9) c.8_21del (p.Cys3TyrfsTer9) c.125_138del (p.Cys42TyrfsTer9) c.383_396del (p.Cys128TyrfsTer9) n.660_673del c.287_300del (p.Cys96TyrfsTer9) c.-74_-61del (n.-74_-61del) c.371_384del (p.Cys124TyrfsTer9) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675197_7675200del | CA645589159 | TP53 | c.412_415del (p.Ala138ArgfsTer?) c.16_19del (p.Ala6ArgfsTer?) c.133_136del (p.Ala45ArgfsTer?) c.391_394del (p.Ala131ArgfsTer?) n.668_671del c.295_298del (p.Ala99ArgfsTer?) c.-66_-63del (n.-66_-63del) c.379_382del (p.Ala127ArgfsTer?) | COSMIC |
| 17 | g.7675197_7676153del | CA645589160 | TP53 | c.216_415del c.-21-917_19del c.96+229_136del c.216_394del n.472_671del c.99_298del c.216_382del | COSMIC |
| 17 | g.7675198_7675200del | CA645589161 | TP53 | c.412_414del (p.Ala138del) c.16_18del (p.Ala6del) c.133_135del (p.Ala45del) c.391_393del (p.Ala131del) n.668_670del c.295_297del (p.Ala99del) c.-66_-64del (n.-66_-64del) c.379_381del (p.Ala127del) | COSMIC |
| 17 | g.7675198_7675209del | CA645589162 | TP53 | c.403_414del (p.Cys135_Ala138del) c.7_18del (p.Cys3_Ala6del) c.124_135del (p.Cys42_Ala45del) c.382_393del (p.Cys128_Ala131del) n.659_670del c.286_297del (p.Cys96_Ala99del) c.-75_-64del (n.-75_-64del) c.370_381del (p.Cys124_Ala127del) | COSMIC |
| 17 | g.7675200C>A | CA397842708 | TP53 | c.412G>T (p.Ala138Ser) c.16G>T (p.Ala6Ser) c.133G>T (p.Ala45Ser) c.391G>T (p.Ala131Ser) n.668G>T c.295G>T (p.Ala99Ser) c.-66G>T (n.-66G>T) c.379G>T (p.Ala127Ser) | dbSNP COSMIC |
| 17 | g.7675200C= | CA2245930003 | TP53 | c.412G= (p.Ala138=) c.16G= (p.Ala6=) c.133G= (p.Ala45=) c.391G= (p.Ala131=) n.668G= c.295G= (p.Ala99=) c.-66G= (n.-66G=) c.379G= (p.Ala127=) | |
| 17 | g.7675200C>G | CA000166 | TP53 | c.412G>C (p.Ala138Pro) c.16G>C (p.Ala6Pro) c.133G>C (p.Ala45Pro) c.391G>C (p.Ala131Pro) n.668G>C c.295G>C (p.Ala99Pro) c.-66G>C (n.-66G>C) c.379G>C (p.Ala127Pro) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675200C>T | CA397842713 | TP53 | c.412G>A (p.Ala138Thr) c.16G>A (p.Ala6Thr) c.133G>A (p.Ala45Thr) c.391G>A (p.Ala131Thr) n.668G>A c.295G>A (p.Ala99Thr) c.-66G>A (n.-66G>A) c.379G>A (p.Ala127Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675201del | CA497925716 | TP53 | c.412del (p.Ala138ProfsTer?) c.16del (p.Ala6ProfsTer?) c.133del (p.Ala45ProfsTer?) c.391del (p.Ala131ProfsTer?) n.668del c.295del (p.Ala99ProfsTer?) c.-66del (n.-66del) c.379del (p.Ala127ProfsTer?) | COSMIC |
| 17 | g.7675201C>A | CA497925718 | TP53 | c.411G>T (p.Leu137=) c.15G>T (p.Leu5=) c.132G>T (p.Leu44=) c.390G>T (p.Leu130=) n.667G>T c.294G>T (p.Leu98=) c.-67G>T (n.-67G>T) c.378G>T (p.Leu126=) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675201C= | CA2245930016 | TP53 | c.411G= (p.Leu137=) c.15G= (p.Leu5=) c.132G= (p.Leu44=) c.390G= (p.Leu130=) n.667G= c.294G= (p.Leu98=) c.-67G= (n.-67G=) c.378G= (p.Leu126=) | |
| 17 | g.7675201C>G | CA10580944 | TP53 | c.411G>C (p.Leu137=) c.15G>C (p.Leu5=) c.132G>C (p.Leu44=) c.390G>C (p.Leu130=) n.667G>C c.294G>C (p.Leu98=) c.-67G>C (n.-67G>C) c.378G>C (p.Leu126=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7675201C>T | CA497925719 | TP53 | c.411G>A (p.Leu137=) c.15G>A (p.Leu5=) c.132G>A (p.Leu44=) c.390G>A (p.Leu130=) n.667G>A c.294G>A (p.Leu98=) c.-67G>A (n.-67G>A) c.378G>A (p.Leu126=) | ClinVar COSMIC |
| 17 | g.7675201_7675202insT | CA645589164 | TP53 | c.410_411insA (p.Ala138GlyfsTer11) c.14_15insA (p.Ala6GlyfsTer11) c.131_132insA (p.Ala45GlyfsTer11) c.389_390insA (p.Ala131GlyfsTer11) n.666_667insA c.293_294insA (p.Ala99GlyfsTer11) c.-68_-67insA (n.-68_-67insA) c.377_378insA (p.Ala127GlyfsTer11) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675201_7675202insGATCACCTGAAGTA | CA891842266 | TP53 | c.410_411insTACTTCAGGTGATC (p.Ala138ThrfsTer?) c.14_15insTACTTCAGGTGATC (p.Ala6ThrfsTer?) c.131_132insTACTTCAGGTGATC (p.Ala45ThrfsTer?) c.389_390insTACTTCAGGTGATC (p.Ala131ThrfsTer?) n.666_667insTACTTCAGGTGATC c.293_294insTACTTCAGGTGATC (p.Ala99ThrfsTer?) c.-68_-67insTACTTCAGGTGATC (n.-68_-67insTACTTCAGGTGATC) c.377_378insTACTTCAGGTGATC (p.Ala127ThrfsTer?) | |
| 17 | g.7675202del | CA497925721 | TP53 | c.410del (p.Leu137ArgfsTer?) c.14del (p.Leu5ArgfsTer?) c.131del (p.Leu44ArgfsTer?) c.389del (p.Leu130ArgfsTer?) n.666del c.293del (p.Leu98ArgfsTer?) c.-68del (n.-68del) c.377del (p.Leu126ArgfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675202A>C | CA397842723 | TP53 | c.410T>G (p.Leu137Arg) c.14T>G (p.Leu5Arg) c.131T>G (p.Leu44Arg) c.389T>G (p.Leu130Arg) n.666T>G c.293T>G (p.Leu98Arg) c.-68T>G (n.-68T>G) c.377T>G (p.Leu126Arg) | |
| 17 | g.7675202A>G | CA397842719 | TP53 | c.410T>C (p.Leu137Pro) c.14T>C (p.Leu5Pro) c.131T>C (p.Leu44Pro) c.389T>C (p.Leu130Pro) n.666T>C c.293T>C (p.Leu98Pro) c.-68T>C (n.-68T>C) c.377T>C (p.Leu126Pro) | dbSNP COSMIC |
| 17 | g.7675202A>T | CA397842718 | TP53 | c.410T>A (p.Leu137Gln) c.14T>A (p.Leu5Gln) c.131T>A (p.Leu44Gln) c.389T>A (p.Leu130Gln) n.666T>A c.293T>A (p.Leu98Gln) c.-68T>A (n.-68T>A) c.377T>A (p.Leu126Gln) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675202_7675203delinsTC | CA2580095011 | TP53 | c.409_410delinsGA (p.Leu137Glu) c.13_14delinsGA (p.Leu5Glu) c.130_131delinsGA (p.Leu44Glu) c.388_389delinsGA (p.Leu130Glu) n.665_666delinsGA c.292_293delinsGA (p.Leu98Glu) c.-69_-68delinsGA (n.-69_-68delinsGA) c.376_377delinsGA (p.Leu126Glu) | ClinVar |
| 17 | g.7675202_7675218delinsAGTTGGCAAAACATCTT | CA2245930034 | TP53 | c.394_410delinsAAGATGTTTTGCCAACT (p.Lys132=) c.-3_14delinsAAGATGTTTTGCCAACT c.115_131delinsAAGATGTTTTGCCAACT (p.Lys39=) c.376-3_389delinsAAGATGTTTTGCCAACT n.650_666delinsAAGATGTTTTGCCAACT c.277_293delinsAAGATGTTTTGCCAACT (p.Lys93=) c.-84_-68delinsAAGATGTTTTGCCAACT (n.-84_-68delinsAAGATGTTTTGCCAACT) c.361_377delinsAAGATGTTTTGCCAACT (p.Lys121=) | |
| 17 | g.7675203del | CA497925722 | TP53 | c.409del (p.Leu137TrpfsTer?) c.13del (p.Leu5TrpfsTer?) c.130del (p.Leu44TrpfsTer?) c.388del (p.Leu130TrpfsTer?) n.665del c.292del (p.Leu98TrpfsTer?) c.-69del (n.-69del) c.376del (p.Leu126TrpfsTer?) | COSMIC |
| 17 | g.7675203G>A | CA497925723 | TP53 | c.409C>T (p.Leu137=) c.13C>T (p.Leu5=) c.130C>T (p.Leu44=) c.388C>T (p.Leu130=) n.665C>T c.292C>T (p.Leu98=) c.-69C>T (n.-69C>T) c.376C>T (p.Leu126=) | ClinVar COSMIC |
| 17 | g.7675203G>C | CA397842729 | TP53 | c.409C>G (p.Leu137Val) c.13C>G (p.Leu5Val) c.130C>G (p.Leu44Val) c.388C>G (p.Leu130Val) n.665C>G c.292C>G (p.Leu98Val) c.-69C>G (n.-69C>G) c.376C>G (p.Leu126Val) | ClinVar dbSNP COSMIC |
| 17 | g.7675203G= | CA2245930061 | TP53 | c.409C= (p.Leu137=) c.13C= (p.Leu5=) c.130C= (p.Leu44=) c.388C= (p.Leu130=) n.665C= c.292C= (p.Leu98=) c.-69C= (n.-69C=) c.376C= (p.Leu126=) | |
| 17 | g.7675203G>T | CA397842734 | TP53 | c.409C>A (p.Leu137Met) c.13C>A (p.Leu5Met) c.130C>A (p.Leu44Met) c.388C>A (p.Leu130Met) n.665C>A c.292C>A (p.Leu98Met) c.-69C>A (n.-69C>A) c.376C>A (p.Leu126Met) | COSMIC |
| 17 | g.7675203dup | CA2697552119 | TP53 | c.409dup (p.Leu137ProfsTer12) c.13dup (p.Leu5ProfsTer12) c.130dup (p.Leu44ProfsTer12) c.388dup (p.Leu130ProfsTer12) n.665dup c.292dup (p.Leu98ProfsTer12) c.-69dup (n.-69dup) c.376dup (p.Leu126ProfsTer12) | |
| 17 | g.7675204_7675207del | CA645589166 | TP53 | c.406_409del (p.Gln136TrpfsTer?) c.10_13del (p.Gln4TrpfsTer?) c.127_130del (p.Gln43TrpfsTer?) c.385_388del (p.Gln129TrpfsTer?) n.662_665del c.289_292del (p.Gln97TrpfsTer?) c.-72_-69del (n.-72_-69del) c.373_376del (p.Gln125TrpfsTer?) | COSMIC |