| 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.7674218_7674967del | CA645588534 | TP53 | c.569_750del c.173_354del c.290_471del c.548_729del c.452_633del c.92_273del c.536_717del | COSMIC COSMIC COSMIC |
| 17 | g.7674823_7674862del | CA645588691 | TP53 | c.670_672+37del c.274_276+37del c.391_393+37del c.649_651+37del n.926_965del n.67+192_67+231del c.553_555+37del c.193_195+37del c.637_639+37del | COSMIC |
| 17 | g.7674838_7674882del | CA645588698 | TP53 | c.649_672+21del c.253_276+21del c.370_393+21del c.628_651+21del n.905_949del n.67+171_67+215del c.532_555+21del c.172_195+21del c.616_639+21del | COSMIC |
| 17 | g.7674851_7674858del | CA2635878487 | TP53 | c.672+1_672+8del (n.672+1_672+8del) c.276+1_276+8del (n.276+1_276+8del) c.393+1_393+8del (n.393+1_393+8del) c.651+1_651+8del (n.651+1_651+8del) n.929_936del n.67+195_67+202del c.555+1_555+8del (n.555+1_555+8del) c.195+1_195+8del (n.195+1_195+8del) c.639+1_639+8del (n.639+1_639+8del) | gnomAD v4 |
| 17 | g.7674856_7674884del | CA645588704 | TP53 | c.651_672+7del c.255_276+7del c.372_393+7del c.630_651+7del n.907_935del n.67+173_67+201del c.534_555+7del c.174_195+7del c.618_639+7del | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674855A= | CA2245953827 | TP53 | c.672+4T= (n.672+4T=) c.276+4T= (n.276+4T=) c.393+4T= (n.393+4T=) c.651+4T= (n.651+4T=) n.932T= n.67+198T= c.555+4T= (n.555+4T=) c.195+4T= (n.195+4T=) c.639+4T= (n.639+4T=) | |
| 17 | g.7674855A>G | CA915949532 | TP53 | c.672+4T>C (n.672+4T>C) c.276+4T>C (n.276+4T>C) c.393+4T>C (n.393+4T>C) c.651+4T>C (n.651+4T>C) n.932T>C n.67+198T>C c.555+4T>C (n.555+4T>C) c.195+4T>C (n.195+4T>C) c.639+4T>C (n.639+4T>C) | ClinVar dbSNP |
| 17 | g.7674855A>T | CA2732965417 | TP53 | c.672+4T>A (n.672+4T>A) c.276+4T>A (n.276+4T>A) c.393+4T>A (n.393+4T>A) c.651+4T>A (n.651+4T>A) n.932T>A n.67+198T>A c.555+4T>A (n.555+4T>A) c.195+4T>A (n.195+4T>A) c.639+4T>A (n.639+4T>A) | dbSNP |
| 17 | g.7674856G>A | CA2499224964 | TP53 | c.672+3C>T (n.672+3C>T) c.276+3C>T (n.276+3C>T) c.393+3C>T (n.393+3C>T) c.651+3C>T (n.651+3C>T) n.931C>T n.67+197C>T c.555+3C>T (n.555+3C>T) c.195+3C>T (n.195+3C>T) c.639+3C>T (n.639+3C>T) | ClinVar dbSNP |
| 17 | g.7674856G>C | CA2733136399 | TP53 | c.672+3C>G (n.672+3C>G) c.276+3C>G (n.276+3C>G) c.393+3C>G (n.393+3C>G) c.651+3C>G (n.651+3C>G) n.931C>G n.67+197C>G c.555+3C>G (n.555+3C>G) c.195+3C>G (n.195+3C>G) c.639+3C>G (n.639+3C>G) | dbSNP |
| 17 | g.7674856G= | CA2245953832 | TP53 | c.672+3C= (n.672+3C=) c.276+3C= (n.276+3C=) c.393+3C= (n.393+3C=) c.651+3C= (n.651+3C=) n.931C= n.67+197C= c.555+3C= (n.555+3C=) c.195+3C= (n.195+3C=) c.639+3C= (n.639+3C=) | |
| 17 | g.7674856G>T | CA645588705 | TP53 | c.672+3C>A (n.672+3C>A) c.276+3C>A (n.276+3C>A) c.393+3C>A (n.393+3C>A) c.651+3C>A (n.651+3C>A) n.931C>A n.67+197C>A c.555+3C>A (n.555+3C>A) c.195+3C>A (n.195+3C>A) c.639+3C>A (n.639+3C>A) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674857A= | CA2245953848 | TP53 | c.672+2T= (n.672+2T=) c.276+2T= (n.276+2T=) c.393+2T= (n.393+2T=) c.651+2T= (n.651+2T=) n.930T= n.67+196T= c.555+2T= (n.555+2T=) c.195+2T= (n.195+2T=) c.639+2T= (n.639+2T=) | |
| 17 | g.7674857A>C | CA397839766 | TP53 | c.672+2T>G (n.672+2T>G) c.276+2T>G (n.276+2T>G) c.393+2T>G (n.393+2T>G) c.651+2T>G (n.651+2T>G) n.930T>G n.67+196T>G c.555+2T>G (n.555+2T>G) c.195+2T>G (n.195+2T>G) c.639+2T>G (n.639+2T>G) | ClinVar dbSNP |
| 17 | g.7674857A>G | CA397839763 | TP53 | c.672+2T>C (n.672+2T>C) c.276+2T>C (n.276+2T>C) c.393+2T>C (n.393+2T>C) c.651+2T>C (n.651+2T>C) n.930T>C n.67+196T>C c.555+2T>C (n.555+2T>C) c.195+2T>C (n.195+2T>C) c.639+2T>C (n.639+2T>C) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674857A>T | CA397839761 | TP53 | c.672+2T>A (n.672+2T>A) c.276+2T>A (n.276+2T>A) c.393+2T>A (n.393+2T>A) c.651+2T>A (n.651+2T>A) n.930T>A n.67+196T>A c.555+2T>A (n.555+2T>A) c.195+2T>A (n.195+2T>A) c.639+2T>A (n.639+2T>A) | ClinVar dbSNP |
| 17 | g.7674857_7674858delinsAC | CA2245953856 | TP53 | c.672+1_672+2delinsGT (n.672+1_672+2delinsGT) c.276+1_276+2delinsGT (n.276+1_276+2delinsGT) c.393+1_393+2delinsGT (n.393+1_393+2delinsGT) c.651+1_651+2delinsGT (n.651+1_651+2delinsGT) n.929_930delinsGT n.67+195_67+196delinsGT c.555+1_555+2delinsGT (n.555+1_555+2delinsGT) c.195+1_195+2delinsGT (n.195+1_195+2delinsGT) c.639+1_639+2delinsGT (n.639+1_639+2delinsGT) | |
| 17 | g.7674860_7674880dup | CA1139665121 | TP53 | c.654_672+2dup c.258_276+2dup c.375_393+2dup c.633_651+2dup n.910_930dup n.67+176_67+196dup c.537_555+2dup c.177_195+2dup c.621_639+2dup | ClinVar dbSNP |
| 17 | g.7674860_7674880del | CA645588706 | TP53 | c.654_672+2del c.258_276+2del c.375_393+2del c.633_651+2del n.910_930del n.67+176_67+196del c.537_555+2del c.177_195+2del c.621_639+2del | COSMIC |
| 17 | g.7674858C>A | CA397839769 | TP53 | c.672+1G>T (n.672+1G>T) c.276+1G>T (n.276+1G>T) c.393+1G>T (n.393+1G>T) c.651+1G>T (n.651+1G>T) n.929G>T n.67+195G>T c.555+1G>T (n.555+1G>T) c.195+1G>T (n.195+1G>T) c.639+1G>T (n.639+1G>T) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674858C= | CA2245953865 | TP53 | c.672+1G= (n.672+1G=) c.276+1G= (n.276+1G=) c.393+1G= (n.393+1G=) c.651+1G= (n.651+1G=) n.929G= n.67+195G= c.555+1G= (n.555+1G=) c.195+1G= (n.195+1G=) c.639+1G= (n.639+1G=) | |
| 17 | g.7674858C>G | CA397839772 | TP53 | c.672+1G>C (n.672+1G>C) c.276+1G>C (n.276+1G>C) c.393+1G>C (n.393+1G>C) c.651+1G>C (n.651+1G>C) n.929G>C n.67+195G>C c.555+1G>C (n.555+1G>C) c.195+1G>C (n.195+1G>C) c.639+1G>C (n.639+1G>C) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674858C>T | CA339249 | TP53 | c.672+1G>A (n.672+1G>A) c.276+1G>A (n.276+1G>A) c.393+1G>A (n.393+1G>A) c.651+1G>A (n.651+1G>A) n.929G>A n.67+195G>A c.555+1G>A (n.555+1G>A) c.195+1G>A (n.195+1G>A) c.639+1G>A (n.639+1G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674859del | CA913190589 | TP53 | c.672+1del c.276+1del c.393+1del c.651+1del n.929del n.67+195del c.555+1del c.195+1del c.639+1del | ClinVar dbSNP |
| 17 | g.7674858_7674861del | CA645588707 | TP53 | c.670_672+1del c.274_276+1del c.391_393+1del c.649_651+1del n.926_929del n.67+192_67+195del c.553_555+1del c.193_195+1del c.637_639+1del | COSMIC |
| 17 | g.7674859C>A | CA397839776 | TP53 | c.672G>T (p.Glu224Asp) c.276G>T (p.Glu92Asp) c.393G>T (p.Glu131Asp) c.651G>T (p.Glu217Asp) n.928G>T n.67+194G>T c.555G>T (p.Glu185Asp) c.195G>T (p.Glu65Asp) c.639G>T (p.Glu213Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674859C= | CA2245953877 | TP53 | c.672G= (p.Glu224=) c.276G= (p.Glu92=) c.393G= (p.Glu131=) c.651G= (p.Glu217=) n.928G= n.67+194G= c.555G= (p.Glu185=) c.195G= (p.Glu65=) c.639G= (p.Glu213=) | |
| 17 | g.7674859C>G | CA397839777 | TP53 | c.672G>C (p.Glu224Asp) c.276G>C (p.Glu92Asp) c.393G>C (p.Glu131Asp) c.651G>C (p.Glu217Asp) n.928G>C n.67+194G>C c.555G>C (p.Glu185Asp) c.195G>C (p.Glu65Asp) c.639G>C (p.Glu213Asp) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674859C>T | CA000328 | TP53 | c.672G>A (p.Glu224=) c.276G>A (p.Glu92=) c.393G>A (p.Glu131=) c.651G>A (p.Glu217=) n.928G>A n.67+194G>A c.555G>A (p.Glu185=) c.195G>A (p.Glu65=) c.639G>A (p.Glu213=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674860_7674870del | CA645588709 | TP53 | c.662_672del (p.Glu221GlyfsTer4) c.266_276del (p.Glu89GlyfsTer4) c.383_393del (p.Glu128GlyfsTer4) c.641_651del (p.Glu214GlyfsTer4) n.918_928del n.67+184_67+194del c.545_555del (p.Glu182GlyfsTer4) c.185_195del (p.Glu62GlyfsTer4) c.629_639del (p.Glu210GlyfsTer4) | COSMIC |
| 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.7674860T>A | CA397839780 | TP53 | c.671A>T (p.Glu224Val) c.275A>T (p.Glu92Val) c.392A>T (p.Glu131Val) c.650A>T (p.Glu217Val) n.927A>T n.67+193A>T c.554A>T (p.Glu185Val) c.194A>T (p.Glu65Val) c.638A>T (p.Glu213Val) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674860T>C | CA397839783 | TP53 | c.671A>G (p.Glu224Gly) c.275A>G (p.Glu92Gly) c.392A>G (p.Glu131Gly) c.650A>G (p.Glu217Gly) n.927A>G n.67+193A>G c.554A>G (p.Glu185Gly) c.194A>G (p.Glu65Gly) c.638A>G (p.Glu213Gly) | ClinVar dbSNP COSMIC |
| 17 | g.7674860T>G | CA397839786 | TP53 | c.671A>C (p.Glu224Ala) c.275A>C (p.Glu92Ala) c.392A>C (p.Glu131Ala) c.650A>C (p.Glu217Ala) n.927A>C n.67+193A>C c.554A>C (p.Glu185Ala) c.194A>C (p.Glu65Ala) c.638A>C (p.Glu213Ala) | ClinVar dbSNP |
| 17 | g.7674860T= | CA2245953891 | TP53 | c.671A= (p.Glu224=) c.275A= (p.Glu92=) c.392A= (p.Glu131=) c.650A= (p.Glu217=) n.927A= n.67+193A= c.554A= (p.Glu185=) c.194A= (p.Glu65=) c.638A= (p.Glu213=) | |
| 17 | g.7674860delinsAGA | CA645588710 | TP53 | c.671delinsTCT (p.Glu224ValfsTer24) c.275delinsTCT (p.Glu92ValfsTer24) c.392delinsTCT (p.Glu131ValfsTer24) c.650delinsTCT (p.Glu217ValfsTer24) n.927delinsTCT n.67+193delinsTCT c.554delinsTCT (p.Glu185ValfsTer24) c.194delinsTCT (p.Glu65ValfsTer24) c.638delinsTCT (p.Glu213ValfsTer24) | COSMIC |
| 17 | g.7674860_7674876delinsTCAGGCGGCTCATAGGG | CA2245953899 | TP53 | c.655_671delinsCCCTATGAGCCGCCTGA (p.Pro219=) c.259_275delinsCCCTATGAGCCGCCTGA (p.Pro87=) c.376_392delinsCCCTATGAGCCGCCTGA (p.Pro126=) c.634_650delinsCCCTATGAGCCGCCTGA (p.Pro212=) n.911_927delinsCCCTATGAGCCGCCTGA n.67+177_67+193delinsCCCTATGAGCCGCCTGA c.538_554delinsCCCTATGAGCCGCCTGA (p.Pro180=) c.178_194delinsCCCTATGAGCCGCCTGA (p.Pro60=) c.622_638delinsCCCTATGAGCCGCCTGA (p.Pro208=) | |
| 17 | g.7674861del | CA497925275 | TP53 | c.670del (p.Glu224ArgfsTer23) c.274del (p.Glu92ArgfsTer23) c.391del (p.Glu131ArgfsTer23) c.649del (p.Glu217ArgfsTer23) n.926del n.67+192del c.553del (p.Glu185ArgfsTer23) c.193del (p.Glu65ArgfsTer23) c.637del (p.Glu213ArgfsTer23) | COSMIC |
| 17 | g.7674861C>A | CA397839787 | TP53 | c.670G>T (p.Glu224Ter) c.274G>T (p.Glu92Ter) c.391G>T (p.Glu131Ter) c.649G>T (p.Glu217Ter) n.926G>T n.67+192G>T c.553G>T (p.Glu185Ter) c.193G>T (p.Glu65Ter) c.637G>T (p.Glu213Ter) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674861C= | CA2245953913 | TP53 | c.670G= (p.Glu224=) c.274G= (p.Glu92=) c.391G= (p.Glu131=) c.649G= (p.Glu217=) n.926G= n.67+192G= c.553G= (p.Glu185=) c.193G= (p.Glu65=) c.637G= (p.Glu213=) | |
| 17 | g.7674861C>G | CA397839788 | TP53 | c.670G>C (p.Glu224Gln) c.274G>C (p.Glu92Gln) c.391G>C (p.Glu131Gln) c.649G>C (p.Glu217Gln) n.926G>C n.67+192G>C c.553G>C (p.Glu185Gln) c.193G>C (p.Glu65Gln) c.637G>C (p.Glu213Gln) | dbSNP gnomAD v4 |
| 17 | g.7674861C>T | CA397839791 | TP53 | c.670G>A (p.Glu224Lys) c.274G>A (p.Glu92Lys) c.391G>A (p.Glu131Lys) c.649G>A (p.Glu217Lys) n.926G>A n.67+192G>A c.553G>A (p.Glu185Lys) c.193G>A (p.Glu65Lys) c.637G>A (p.Glu213Lys) | ClinVar dbSNP COSMIC |
| 17 | g.7674861_7674862del | CA645588712 | TP53 | c.669_670del (p.Glu224GlyfsTer4) c.273_274del (p.Glu92GlyfsTer4) c.390_391del (p.Glu131GlyfsTer4) c.648_649del (p.Glu217GlyfsTer4) n.925_926del n.67+191_67+192del c.552_553del (p.Glu185GlyfsTer4) c.192_193del (p.Glu65GlyfsTer4) c.636_637del (p.Glu213GlyfsTer4) | COSMIC |
| 17 | g.7674861_7674868del | CA645588711 | TP53 | c.663_670del (p.Pro222GlyfsTer4) c.267_274del (p.Pro90GlyfsTer4) c.384_391del (p.Pro129GlyfsTer4) c.642_649del (p.Pro215GlyfsTer4) n.919_926del n.67+185_67+192del c.546_553del (p.Pro183GlyfsTer4) c.186_193del (p.Pro63GlyfsTer4) c.630_637del (p.Pro211GlyfsTer4) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674863_7674878del | CA658656530 | TP53 | c.655_670del (p.Pro219ArgfsTer23) c.259_274del (p.Pro87ArgfsTer23) c.376_391del (p.Pro126ArgfsTer23) c.634_649del (p.Pro212ArgfsTer23) n.911_926del n.67+177_67+192del c.538_553del (p.Pro180ArgfsTer23) c.178_193del (p.Pro60ArgfsTer23) c.622_637del (p.Pro208ArgfsTer23) | ClinVar dbSNP |
| 17 | g.7674862A>C | CA497925276 | TP53 | c.669T>G (p.Pro223=) c.273T>G (p.Pro91=) c.390T>G (p.Pro130=) c.648T>G (p.Pro216=) n.925T>G n.67+191T>G c.552T>G (p.Pro184=) c.192T>G (p.Pro64=) c.636T>G (p.Pro212=) | dbSNP COSMIC |
| 17 | g.7674862A>G | CA497925277 | TP53 | c.669T>C (p.Pro223=) c.273T>C (p.Pro91=) c.390T>C (p.Pro130=) c.648T>C (p.Pro216=) n.925T>C n.67+191T>C c.552T>C (p.Pro184=) c.192T>C (p.Pro64=) c.636T>C (p.Pro212=) | dbSNP COSMIC |
| 17 | g.7674862A>T | CA497925278 | TP53 | c.669T>A (p.Pro223=) c.273T>A (p.Pro91=) c.390T>A (p.Pro130=) c.648T>A (p.Pro216=) n.925T>A n.67+191T>A c.552T>A (p.Pro184=) c.192T>A (p.Pro64=) c.636T>A (p.Pro212=) | dbSNP gnomAD v4 COSMIC |