| 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.7674956_7675053del | CA645588834 | TP53 | c.559+1_576del c.163+1_180del c.280+1_297del c.538+1_555del n.815+1_832del n.67+1_67+98del c.442+1_459del c.82+1_99del c.526+1_543del | COSMIC |
| 17 | g.7674958_7675056del | CA645588839 | TP53 | c.556_573del c.160_177del c.277_294del c.535_552del n.812_829del n.64_67+95del c.439_456del c.79_96del c.523_540del | COSMIC |
| 17 | g.7674960_7675141del | CA913203500 | TP53 | c.472_572del c.76_176del c.193_293del c.451_551del n.728_828del c.355_455del c.-6_95del c.439_539del | |
| 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.7674967_7675053del | CA645588847 | TP53 | c.559+1_565del c.163+1_169del c.280+1_286del c.538+1_544del n.815+1_821del n.67+1_67+87del c.442+1_448del c.82+1_88del c.526+1_532del | COSMIC |
| 17 | g.7674969_7675054del | CA645588846 | TP53 | c.559+2_565del c.163+2_169del c.280+2_286del c.538+2_544del n.815+2_821del n.67+2_67+87del c.442+2_448del c.82+2_88del c.526+2_532del | COSMIC |
| 17 | g.7674973_7675053del | CA2535011697 | TP53 | c.559+3_561del c.163+3_165del c.280+3_282del c.538+3_540del n.815+3_817del n.67+3_67+83del c.442+3_444del c.82+3_84del c.526+3_528del | |
| 17 | g.7675023_7675070del | CA645588861 | TP53 | c.546_559+34del c.150_163+34del c.267_280+34del c.525_538+34del n.802_815+34del n.54_67+34del c.429_442+34del c.69_82+34del c.513_526+34del | COSMIC |
| 17 | g.7675038_7675064del | CA645588863 | TP53 | c.548_559+15del c.152_163+15del c.269_280+15del c.527_538+15del n.804_815+15del n.56_67+15del c.431_442+15del c.71_82+15del c.515_526+15del | COSMIC |
| 17 | g.7675046_7675070del | CA2581931361 | TP53 | c.546_559+11del c.150_163+11del c.267_280+11del c.525_538+11del n.802_815+11del n.54_67+11del c.429_442+11del c.69_82+11del c.513_526+11del | |
| 17 | g.7675045_7675064dup | CA1139665129 | TP53 | c.549_559+9dup c.153_163+9dup c.270_280+9dup c.528_538+9dup n.805_815+9dup n.57_67+9dup c.432_442+9dup c.72_82+9dup c.516_526+9dup | ClinVar dbSNP |
| 17 | g.7675047_7675090delinsGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGC | CA2245955447 | TP53 | c.522_559+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.126_163+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.243_280+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.501_538+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC n.778_815+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC n.30_67+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.405_442+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.45_82+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC c.489_526+6delinsGCGCTGCCCCCACCATGAGCGCTGCTCAGATAGCGATGGTGAGC | |
| 17 | g.7675053_7675095del | CA658798694 | TP53 | c.522_559+5del c.126_163+5del c.243_280+5del c.501_538+5del n.778_815+5del n.30_67+5del c.405_442+5del c.45_82+5del c.489_526+5del | ClinVar dbSNP |
| 17 | g.7675050_7675055delinsCACCAT | CA2245955458 | TP53 | c.557_559+3delinsATGGTG c.161_163+3delinsATGGTG c.278_280+3delinsATGGTG c.536_538+3delinsATGGTG n.813_815+3delinsATGGTG n.65_67+3delinsATGGTG c.440_442+3delinsATGGTG c.80_82+3delinsATGGTG c.524_526+3delinsATGGTG | |
| 17 | g.7675051_7675055del | CA645588868 | TP53 | c.557_559+2del c.161_163+2del c.278_280+2del c.536_538+2del n.813_815+2del n.65_67+2del c.440_442+2del c.80_82+2del c.524_526+2del | COSMIC |
| 17 | g.7675051_7675055delinsCCCC | CA913191042 | TP53 | c.557_559+2delinsGGGG c.161_163+2delinsGGGG c.278_280+2delinsGGGG c.536_538+2delinsGGGG n.813_815+2delinsGGGG n.65_67+2delinsGGGG c.440_442+2delinsGGGG c.80_82+2delinsGGGG c.524_526+2delinsGGGG | ClinVar dbSNP |
| 17 | g.7675054_7675099del | CA645588867 | TP53 | c.516_559+2del c.120_163+2del c.237_280+2del c.495_538+2del n.772_815+2del n.24_67+2del c.399_442+2del c.39_82+2del c.483_526+2del | COSMIC |
| 17 | g.7675052C>A | CA397841061 | TP53 | c.559+1G>T (n.559+1G>T) c.163+1G>T (n.163+1G>T) c.280+1G>T (n.280+1G>T) c.538+1G>T (n.538+1G>T) n.815+1G>T n.67+1G>T c.442+1G>T (n.442+1G>T) c.82+1G>T (n.82+1G>T) c.526+1G>T (n.526+1G>T) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675052C= | CA2245955469 | TP53 | c.559+1G= (n.559+1G=) c.163+1G= (n.163+1G=) c.280+1G= (n.280+1G=) c.538+1G= (n.538+1G=) n.815+1G= n.67+1G= c.442+1G= (n.442+1G=) c.82+1G= (n.82+1G=) c.526+1G= (n.526+1G=) | |
| 17 | g.7675052C>G | CA397841067 | TP53 | c.559+1G>C (n.559+1G>C) c.163+1G>C (n.163+1G>C) c.280+1G>C (n.280+1G>C) c.538+1G>C (n.538+1G>C) n.815+1G>C n.67+1G>C c.442+1G>C (n.442+1G>C) c.82+1G>C (n.82+1G>C) c.526+1G>C (n.526+1G>C) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675052C>T | CA397841068 | TP53 | c.559+1G>A (n.559+1G>A) c.163+1G>A (n.163+1G>A) c.280+1G>A (n.280+1G>A) c.538+1G>A (n.538+1G>A) n.815+1G>A n.67+1G>A c.442+1G>A (n.442+1G>A) c.82+1G>A (n.82+1G>A) c.526+1G>A (n.526+1G>A) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675053dup | CA645588869 | TP53 | c.559+1dup c.163+1dup c.280+1dup c.538+1dup n.815+1dup n.67+1dup c.442+1dup c.82+1dup c.526+1dup | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675053del | CA497925564 | TP53 | c.559+1del c.163+1del c.280+1del c.538+1del n.815+1del n.67+1del c.442+1del c.82+1del c.526+1del | COSMIC |
| 17 | g.7675053_7675072del | CA2580094982 | TP53 | c.541_559+1del c.145_163+1del c.262_280+1del c.520_538+1del n.797_815+1del n.49_67+1del c.424_442+1del c.64_82+1del c.508_526+1del | ClinVar |
| 17 | g.7675052_7675053insG | CA497925565 | TP53 | c.559_559+1insC (n.559_559+1insC) c.163_163+1insC (n.163_163+1insC) c.280_280+1insC (n.280_280+1insC) c.538_538+1insC (n.538_538+1insC) n.815_815+1insC n.67_67+1insC c.442_442+1insC (n.442_442+1insC) c.82_82+1insC (n.82_82+1insC) c.526_526+1insC (n.526_526+1insC) | |
| 17 | g.7675053C>A | CA397841072 | TP53 | c.559G>T (p.Gly187Cys) c.163G>T (p.Gly55Cys) c.280G>T (p.Gly94Cys) c.538G>T (p.Gly180Cys) n.815G>T n.67G>T c.442G>T (p.Gly148Cys) c.82G>T (p.Gly28Cys) c.526G>T (p.Gly176Cys) | dbSNP COSMIC |
| 17 | g.7675053C= | CA2245955474 | TP53 | c.559G= (p.Gly187=) c.163G= (p.Gly55=) c.280G= (p.Gly94=) c.538G= (p.Gly180=) n.815G= n.67G= c.442G= (p.Gly148=) c.82G= (p.Gly28=) c.526G= (p.Gly176=) | |
| 17 | g.7675053C>G | CA397841073 | TP53 | c.559G>C (p.Gly187Arg) c.163G>C (p.Gly55Arg) c.280G>C (p.Gly94Arg) c.538G>C (p.Gly180Arg) n.815G>C n.67G>C c.442G>C (p.Gly148Arg) c.82G>C (p.Gly28Arg) c.526G>C (p.Gly176Arg) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675053C>T | CA002385 | TP53 | c.559G>A (p.Gly187Ser) c.163G>A (p.Gly55Ser) c.280G>A (p.Gly94Ser) c.538G>A (p.Gly180Ser) n.815G>A n.67G>A c.442G>A (p.Gly148Ser) c.82G>A (p.Gly28Ser) c.526G>A (p.Gly176Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675053_7675064del | CA645588870 | TP53 | c.548_559del (p.Ser183_Gly187delinsCys) c.152_163del (p.Ser51_Gly55delinsCys) c.269_280del (p.Ser90_Gly94delinsCys) c.527_538del (p.Ser176_Gly180delinsCys) n.804_815del n.56_67del c.431_442del (p.Ser144_Gly148delinsCys) c.71_82del (p.Ser24_Gly28delinsCys) c.515_526del (p.Ser172_Gly176delinsCys) | COSMIC |
| 17 | g.7675054A= | CA2245955478 | TP53 | c.558T= (p.Asp186=) c.162T= (p.Asp54=) c.279T= (p.Asp93=) c.537T= (p.Asp179=) n.814T= n.66T= c.441T= (p.Asp147=) c.81T= (p.Asp27=) c.525T= (p.Asp175=) | |
| 17 | g.7675054A>C | CA397841080 | TP53 | c.558T>G (p.Asp186Glu) c.162T>G (p.Asp54Glu) c.279T>G (p.Asp93Glu) c.537T>G (p.Asp179Glu) n.814T>G n.66T>G c.441T>G (p.Asp147Glu) c.81T>G (p.Asp27Glu) c.525T>G (p.Asp175Glu) | dbSNP |
| 17 | g.7675054A>G | CA000267 | TP53 | c.558T>C (p.Asp186=) c.162T>C (p.Asp54=) c.279T>C (p.Asp93=) c.537T>C (p.Asp179=) n.814T>C n.66T>C c.441T>C (p.Asp147=) c.81T>C (p.Asp27=) c.525T>C (p.Asp175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7675054A>T | CA002392 | TP53 | c.558T>A (p.Asp186Glu) c.162T>A (p.Asp54Glu) c.279T>A (p.Asp93Glu) c.537T>A (p.Asp179Glu) n.814T>A n.66T>A c.441T>A (p.Asp147Glu) c.81T>A (p.Asp27Glu) c.525T>A (p.Asp175Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7675057_7675062del | CA645588871 | TP53 | c.553_558del (p.Ser185_Asp186del) c.157_162del (p.Ser53_Asp54del) c.274_279del (p.Ser92_Asp93del) c.532_537del (p.Ser178_Asp179del) n.809_814del n.61_66del c.436_441del (p.Ser146_Asp147del) c.76_81del (p.Ser26_Asp27del) c.520_525del (p.Ser174_Asp175del) | COSMIC |
| 17 | g.7675055T>A | CA397841095 | TP53 | c.557A>T (p.Asp186Val) c.161A>T (p.Asp54Val) c.278A>T (p.Asp93Val) c.536A>T (p.Asp179Val) n.813A>T n.65A>T c.440A>T (p.Asp147Val) c.80A>T (p.Asp27Val) c.524A>T (p.Asp175Val) | dbSNP COSMIC |
| 17 | g.7675055T>C | CA397841100 | TP53 | c.557A>G (p.Asp186Gly) c.161A>G (p.Asp54Gly) c.278A>G (p.Asp93Gly) c.536A>G (p.Asp179Gly) n.813A>G n.65A>G c.440A>G (p.Asp147Gly) c.80A>G (p.Asp27Gly) c.524A>G (p.Asp175Gly) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675055T>G | CA397841101 | TP53 | c.557A>C (p.Asp186Ala) c.161A>C (p.Asp54Ala) c.278A>C (p.Asp93Ala) c.536A>C (p.Asp179Ala) n.813A>C n.65A>C c.440A>C (p.Asp147Ala) c.80A>C (p.Asp27Ala) c.524A>C (p.Asp175Ala) | dbSNP |
| 17 | g.7675055_7675056del | CA645588872 | TP53 | c.556_557del (p.Asp186TrpfsTer22) c.160_161del (p.Asp54TrpfsTer22) c.277_278del (p.Asp93TrpfsTer22) c.535_536del (p.Asp179TrpfsTer22) n.812_813del n.64_65del c.439_440del (p.Asp147TrpfsTer22) c.79_80del (p.Asp27TrpfsTer22) c.523_524del (p.Asp175TrpfsTer22) | COSMIC |
| 17 | g.7675056del | CA497925566 | TP53 | c.556del (p.Asp186MetfsTer?) c.160del (p.Asp54MetfsTer?) c.277del (p.Asp93MetfsTer?) c.535del (p.Asp179MetfsTer?) n.812del n.64del c.439del (p.Asp147MetfsTer?) c.79del (p.Asp27MetfsTer?) c.523del (p.Asp175MetfsTer?) | COSMIC |
| 17 | g.7675056C>A | CA397841102 | TP53 | c.556G>T (p.Asp186Tyr) c.160G>T (p.Asp54Tyr) c.277G>T (p.Asp93Tyr) c.535G>T (p.Asp179Tyr) n.812G>T n.64G>T c.439G>T (p.Asp147Tyr) c.79G>T (p.Asp27Tyr) c.523G>T (p.Asp175Tyr) | dbSNP |
| 17 | g.7675056C= | CA2245955483 | TP53 | c.556G= (p.Asp186=) c.160G= (p.Asp54=) c.277G= (p.Asp93=) c.535G= (p.Asp179=) n.812G= n.64G= c.439G= (p.Asp147=) c.79G= (p.Asp27=) c.523G= (p.Asp175=) | |
| 17 | g.7675056C>G | CA397841113 | TP53 | c.556G>C (p.Asp186His) c.160G>C (p.Asp54His) c.277G>C (p.Asp93His) c.535G>C (p.Asp179His) n.812G>C n.64G>C c.439G>C (p.Asp147His) c.79G>C (p.Asp27His) c.523G>C (p.Asp175His) | dbSNP COSMIC |
| 17 | g.7675056C>T | CA16615707 | TP53 | c.556G>A (p.Asp186Asn) c.160G>A (p.Asp54Asn) c.277G>A (p.Asp93Asn) c.535G>A (p.Asp179Asn) n.812G>A n.64G>A c.439G>A (p.Asp147Asn) c.79G>A (p.Asp27Asn) c.523G>A (p.Asp175Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675057_7675058del | CA645588873 | TP53 | c.555_556del (p.Ser185ArgfsTer23) c.159_160del (p.Ser53ArgfsTer23) c.276_277del (p.Ser92ArgfsTer23) c.534_535del (p.Ser178ArgfsTer23) n.811_812del n.63_64del c.438_439del (p.Ser146ArgfsTer23) c.78_79del (p.Ser26ArgfsTer23) c.522_523del (p.Ser174ArgfsTer23) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675058_7675103del | CA645588874 | TP53 | c.511_556del (p.Glu171MetfsTer?) c.115_160del (p.Glu39MetfsTer?) c.232_277del (p.Glu78MetfsTer?) c.490_535del (p.Glu164MetfsTer?) n.767_812del n.19_64del c.394_439del (p.Glu132MetfsTer?) c.34_79del (p.Glu12MetfsTer?) c.478_523del (p.Glu160MetfsTer?) | COSMIC |
| 17 | g.7675057G>A | CA000265 | TP53 | c.555C>T (p.Ser185=) c.159C>T (p.Ser53=) c.276C>T (p.Ser92=) c.534C>T (p.Ser178=) n.811C>T n.63C>T c.438C>T (p.Ser146=) c.78C>T (p.Ser26=) c.522C>T (p.Ser174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |