| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7674213_7674962del | CA645588534 | TP53 | c.564_745del c.168_349del c.447_628del c.87_268del n.564_745del n.531_712del | COSMIC COSMIC COSMIC |
| 17 | g.7674797_7674852del | CA891842248 | TP53 | c.672+7_672+62del (p.=) c.276+7_276+62del (p.=) c.555+7_555+62del (p.=) c.195+7_195+62del (p.=) n.672+7_672+62del (p.=) n.935_990del c.393+7_393+62del (p.=) n.67+201_67+256del n.639+7_639+62del (p.=) | |
| 17 | g.7674822_7674861del | CA645588691 | TP53 | c.669_672+36del c.273_276+36del c.552_555+36del c.192_195+36del n.669_672+36del n.925_964del c.390_393+36del n.67+191_67+230del n.636_639+36del | COSMIC |
| 17 | g.7674837_7674851del | CA624865045 | TP53 | c.672+7_672+21del (p.=) c.276+7_276+21del (p.=) c.555+7_555+21del (p.=) c.195+7_195+21del (p.=) n.672+7_672+21del (p.=) n.935_949del c.393+7_393+21del (p.=) n.67+201_67+215del n.639+7_639+21del (p.=) | ClinVar dbSNP gnomAD |
| 17 | g.7674838_7674882del | CA645588698 | TP53 | c.649_672+21del c.253_276+21del c.532_555+21del c.172_195+21del n.649_672+21del n.905_949del c.370_393+21del n.67+171_67+215del n.616_639+21del | COSMIC |
| 17 | g.7674844A>C | CA16607853 | TP53 | c.672+15T>G (p.=) c.276+15T>G (p.=) c.555+15T>G (p.=) c.195+15T>G (p.=) n.672+15T>G (p.=) n.943T>G c.393+15T>G (p.=) n.67+209T>G n.639+15T>G (p.=) | ClinVar |
| 17 | g.7674844A>G | CA002079 | TP53 | c.672+15T>C (p.=) c.276+15T>C (p.=) c.555+15T>C (p.=) c.195+15T>C (p.=) n.672+15T>C (p.=) n.943T>C c.393+15T>C (p.=) n.67+209T>C n.639+15T>C (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.7674845G>A | CA645588702 | TP53 | c.672+14C>T (p.=) c.276+14C>T (p.=) c.555+14C>T (p.=) c.195+14C>T (p.=) n.672+14C>T (p.=) n.942C>T c.393+14C>T (p.=) n.67+208C>T n.639+14C>T (p.=) | COSMIC |
| 17 | g.7674845G>C | CA658683989 | TP53 | c.672+14C>G (p.=) c.276+14C>G (p.=) c.555+14C>G (p.=) c.195+14C>G (p.=) n.672+14C>G (p.=) n.942C>G c.393+14C>G (p.=) n.67+208C>G n.639+14C>G (p.=) | ClinVar |
| 17 | g.7674848G>A | CA645588703 | TP53 | c.672+11C>T (p.=) c.276+11C>T (p.=) c.555+11C>T (p.=) c.195+11C>T (p.=) n.672+11C>T (p.=) n.939C>T c.393+11C>T (p.=) n.67+205C>T n.639+11C>T (p.=) | COSMIC |
| 17 | g.7674850A>G | CA16607883 | TP53 | c.672+9T>C (p.=) c.276+9T>C (p.=) c.555+9T>C (p.=) c.195+9T>C (p.=) n.672+9T>C (p.=) n.937T>C c.393+9T>C (p.=) n.67+203T>C n.639+9T>C (p.=) | ClinVar |
| 17 | g.7674851A>C | CA002087 | TP53 | c.672+8T>G (p.=) c.276+8T>G (p.=) c.555+8T>G (p.=) c.195+8T>G (p.=) n.672+8T>G (p.=) n.936T>G c.393+8T>G (p.=) n.67+202T>G n.639+8T>G (p.=) | dbSNP ExAC gnomAD |
| 17 | g.7674851_7674853delinsCAA | CA913203435 | TP53 | c.672+6_672+8delinsTTG (p.=) c.276+6_276+8delinsTTG (p.=) c.555+6_555+8delinsTTG (p.=) c.195+6_195+8delinsTTG (p.=) n.672+6_672+8delinsTTG (p.=) n.934_936delinsTTG c.393+6_393+8delinsTTG (p.=) n.67+200_67+202delinsTTG n.639+6_639+8delinsTTG (p.=) | ClinVar |
| 17 | g.7674852_7674880del | CA645588704 | TP53 | c.647_672+3del c.251_276+3del c.530_555+3del c.170_195+3del n.647_672+3del n.903_931del c.368_393+3del n.67+169_67+197del n.614_639+3del | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674853C>A | CA002094 | TP53 | c.672+6G>T (p.=) c.276+6G>T (p.=) c.555+6G>T (p.=) c.195+6G>T (p.=) n.672+6G>T (p.=) n.934G>T c.393+6G>T (p.=) n.67+200G>T n.639+6G>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.7674853C>T | CA002095 | TP53 | c.672+6G>A (p.=) c.276+6G>A (p.=) c.555+6G>A (p.=) c.195+6G>A (p.=) n.672+6G>A (p.=) n.934G>A c.393+6G>A (p.=) n.67+200G>A n.639+6G>A (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.7674854C>T | CA497925274 | TP53 | c.672+5G>A (p.=) c.276+5G>A (p.=) c.555+5G>A (p.=) c.195+5G>A (p.=) n.672+5G>A (p.=) n.933G>A c.393+5G>A (p.=) n.67+199G>A n.639+5G>A (p.=) | gnomAD COSMIC |
| 17 | g.7674855A>G | CA915949532 | TP53 | c.672+4T>C (p.=) c.276+4T>C (p.=) c.555+4T>C (p.=) c.195+4T>C (p.=) n.672+4T>C (p.=) n.932T>C c.393+4T>C (p.=) n.67+198T>C n.639+4T>C (p.=) | ClinVar |
| 17 | g.7674856G>T | CA645588705 | TP53 | c.672+3C>A (p.=) c.276+3C>A (p.=) c.555+3C>A (p.=) c.195+3C>A (p.=) n.672+3C>A (p.=) n.931C>A c.393+3C>A (p.=) n.67+197C>A n.639+3C>A (p.=) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674857A>C | CA397839766 | TP53 | c.672+2T>G (p.=) c.276+2T>G (p.=) c.555+2T>G (p.=) c.195+2T>G (p.=) n.672+2T>G (p.=) n.930T>G c.393+2T>G (p.=) n.67+196T>G n.639+2T>G (p.=) | ClinVar |
| 17 | g.7674857A>G | CA397839763 | TP53 | c.672+2T>C (p.=) c.276+2T>C (p.=) c.555+2T>C (p.=) c.195+2T>C (p.=) n.672+2T>C (p.=) n.930T>C c.393+2T>C (p.=) n.67+196T>C n.639+2T>C (p.=) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674857A>T | CA397839761 | TP53 | c.672+2T>A (p.=) c.276+2T>A (p.=) c.555+2T>A (p.=) c.195+2T>A (p.=) n.672+2T>A (p.=) n.930T>A c.393+2T>A (p.=) n.67+196T>A n.639+2T>A (p.=) | ClinVar |
| 17 | g.7674860_7674880dup | CA1139665121 | TP53 | c.654_672+2dup c.258_276+2dup c.537_555+2dup c.177_195+2dup n.654_672+2dup n.910_930dup c.375_393+2dup n.67+176_67+196dup n.621_639+2dup | ClinVar |
| 17 | g.7674857_7674877del | CA645588706 | TP53 | c.651_671del c.255_275del c.534_554del c.174_194del n.651_671del n.907_927del c.372_392del n.67+173_67+193del n.618_638del | COSMIC |
| 17 | g.7674858C>A | CA397839769 | TP53 | c.672+1G>T (p.=) c.276+1G>T (p.=) c.555+1G>T (p.=) c.195+1G>T (p.=) n.672+1G>T (p.=) n.929G>T c.393+1G>T (p.=) n.67+195G>T n.639+1G>T (p.=) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674858C>G | CA397839772 | TP53 | c.672+1G>C (p.=) c.276+1G>C (p.=) c.555+1G>C (p.=) c.195+1G>C (p.=) n.672+1G>C (p.=) n.929G>C c.393+1G>C (p.=) n.67+195G>C n.639+1G>C (p.=) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674858C>T | CA339249 | TP53 | c.672+1G>A (p.=) c.276+1G>A (p.=) c.555+1G>A (p.=) c.195+1G>A (p.=) n.672+1G>A (p.=) n.929G>A c.393+1G>A (p.=) n.67+195G>A n.639+1G>A (p.=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674858del | CA913190589 | TP53 | c.672del c.276del c.555del c.195del n.672del n.928del c.393del n.67+194del n.639del | ClinVar |
| 17 | g.7674858_7674861del | CA645588707 | TP53 | c.670_672+1del c.274_276+1del c.553_555+1del c.193_195+1del n.670_672+1del n.926_929del c.391_393+1del n.67+192_67+195del n.637_639+1del | COSMIC |
| 17 | g.7674859C>A | CA397839776 | TP53 | c.672G>T (p.Glu224Asp) c.276G>T (p.Glu92Asp) c.555G>T (p.Glu185Asp) c.195G>T (p.Glu65Asp) n.672G>T (p.Glu224Asp) n.928G>T c.393G>T (p.Glu131Asp) n.67+194G>T n.639G>T (p.Glu213Asp) | ClinVar gnomAD COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674859C>G | CA397839777 | TP53 | c.672G>C (p.Glu224Asp) c.276G>C (p.Glu92Asp) c.555G>C (p.Glu185Asp) c.195G>C (p.Glu65Asp) n.672G>C (p.Glu224Asp) n.928G>C c.393G>C (p.Glu131Asp) n.67+194G>C n.639G>C (p.Glu213Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674859C>T | CA000328 | TP53 | c.672G>A (p.Glu224=) c.276G>A (p.Glu92=) c.555G>A (p.Glu185=) c.195G>A (p.Glu65=) n.672G>A (p.Glu224=) n.928G>A c.393G>A (p.Glu131=) n.67+194G>A n.639G>A (p.Glu213=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674859_7674869del | CA645588709 | TP53 | c.661_671del (p.Glu221GlyfsTer4) c.265_275del (p.Glu89GlyfsTer4) c.544_554del (p.Glu182GlyfsTer4) c.184_194del (p.Glu62GlyfsTer4) n.661_671del (p.Glu221GlyfsTer4) n.917_927del c.382_392del (p.Glu128GlyfsTer4) n.67+183_67+193del n.628_638del (p.Glu210GlyfsTer4) | COSMIC |
| 17 | g.7674860T>A | CA397839780 | TP53 | c.671A>T (p.Glu224Val) c.275A>T (p.Glu92Val) c.554A>T (p.Glu185Val) c.194A>T (p.Glu65Val) n.671A>T (p.Glu224Val) n.927A>T c.392A>T (p.Glu131Val) n.67+193A>T n.638A>T (p.Glu213Val) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674860T>C | CA397839783 | TP53 | c.671A>G (p.Glu224Gly) c.275A>G (p.Glu92Gly) c.554A>G (p.Glu185Gly) c.194A>G (p.Glu65Gly) n.671A>G (p.Glu224Gly) n.927A>G c.392A>G (p.Glu131Gly) n.67+193A>G n.638A>G (p.Glu213Gly) | ClinVar COSMIC |
| 17 | g.7674860T>G | CA397839786 | TP53 | c.671A>C (p.Glu224Ala) c.275A>C (p.Glu92Ala) c.554A>C (p.Glu185Ala) c.194A>C (p.Glu65Ala) n.671A>C (p.Glu224Ala) n.927A>C c.392A>C (p.Glu131Ala) n.67+193A>C n.638A>C (p.Glu213Ala) | ClinVar |
| 17 | g.7674860delinsAGA | CA645588710 | TP53 | c.671delinsTCT (p.Glu224ValfsTer24) c.275delinsTCT (p.Glu92ValfsTer24) c.554delinsTCT (p.Glu185ValfsTer24) c.194delinsTCT (p.Glu65ValfsTer24) n.671delinsTCT (p.Glu224ValfsTer24) n.927delinsTCT c.392delinsTCT (p.Glu131ValfsTer24) n.67+193delinsTCT n.638delinsTCT (p.Glu213ValfsTer24) | COSMIC |
| 17 | g.7674861del | CA497925275 | TP53 | c.670del (p.Glu224ArgfsTer23) c.274del (p.Glu92ArgfsTer23) c.553del (p.Glu185ArgfsTer23) c.193del (p.Glu65ArgfsTer23) n.670del (p.Glu224ArgfsTer23) n.926del c.391del (p.Glu131ArgfsTer23) n.67+192del n.637del (p.Glu213ArgfsTer23) | COSMIC |
| 17 | g.7674861C>A | CA397839787 | TP53 | c.670G>T (p.Glu224Ter) c.274G>T (p.Glu92Ter) c.553G>T (p.Glu185Ter) c.193G>T (p.Glu65Ter) n.670G>T (p.Glu224Ter) n.926G>T c.391G>T (p.Glu131Ter) n.67+192G>T n.637G>T (p.Glu213Ter) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674861C>G | CA397839788 | TP53 | c.670G>C (p.Glu224Gln) c.274G>C (p.Glu92Gln) c.553G>C (p.Glu185Gln) c.193G>C (p.Glu65Gln) n.670G>C (p.Glu224Gln) n.926G>C c.391G>C (p.Glu131Gln) n.67+192G>C n.637G>C (p.Glu213Gln) | |
| 17 | g.7674861C>T | CA397839791 | TP53 | c.670G>A (p.Glu224Lys) c.274G>A (p.Glu92Lys) c.553G>A (p.Glu185Lys) c.193G>A (p.Glu65Lys) n.670G>A (p.Glu224Lys) n.926G>A c.391G>A (p.Glu131Lys) n.67+192G>A n.637G>A (p.Glu213Lys) | ClinVar COSMIC |
| 17 | g.7674861_7674862del | CA645588712 | TP53 | c.669_670del (p.Glu224GlyfsTer4) c.273_274del (p.Glu92GlyfsTer4) c.552_553del (p.Glu185GlyfsTer4) c.192_193del (p.Glu65GlyfsTer4) n.669_670del (p.Glu224GlyfsTer4) n.925_926del c.390_391del (p.Glu131GlyfsTer4) n.67+191_67+192del n.636_637del (p.Glu213GlyfsTer4) | COSMIC |
| 17 | g.7674861_7674868del | CA645588711 | TP53 | c.663_670del (p.Pro222GlyfsTer4) c.267_274del (p.Pro90GlyfsTer4) c.546_553del (p.Pro183GlyfsTer4) c.186_193del (p.Pro63GlyfsTer4) n.663_670del (p.Pro222GlyfsTer4) n.919_926del c.384_391del (p.Pro129GlyfsTer4) n.67+185_67+192del n.630_637del (p.Pro211GlyfsTer4) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674861_7674876del | CA658656530 | TP53 | c.653_668del (p.Pro219ArgfsTer23) c.257_272del (p.Pro87ArgfsTer23) c.536_551del (p.Pro180ArgfsTer23) c.176_191del (p.Pro60ArgfsTer23) n.653_668del (p.Pro219ArgfsTer23) n.909_924del c.374_389del (p.Pro126ArgfsTer23) n.67+175_67+190del n.620_635del (p.Pro208ArgfsTer23) | ClinVar dbSNP |
| 17 | g.7674862A>C | CA497925276 | TP53 | c.669T>G (p.Pro223=) c.273T>G (p.Pro91=) c.552T>G (p.Pro184=) c.192T>G (p.Pro64=) n.669T>G (p.Pro223=) n.925T>G c.390T>G (p.Pro130=) n.67+191T>G n.636T>G (p.Pro212=) | COSMIC |
| 17 | g.7674862A>G | CA497925277 | TP53 | c.669T>C (p.Pro223=) c.273T>C (p.Pro91=) c.552T>C (p.Pro184=) c.192T>C (p.Pro64=) n.669T>C (p.Pro223=) n.925T>C c.390T>C (p.Pro130=) n.67+191T>C n.636T>C (p.Pro212=) | COSMIC |
| 17 | g.7674862A>T | CA497925278 | TP53 | c.669T>A (p.Pro223=) c.273T>A (p.Pro91=) c.552T>A (p.Pro184=) c.192T>A (p.Pro64=) n.669T>A (p.Pro223=) n.925T>A c.390T>A (p.Pro130=) n.67+191T>A n.636T>A (p.Pro212=) | COSMIC |
| 17 | g.7674863G>A | CA10580928 | TP53 | c.668C>T (p.Pro223Leu) c.272C>T (p.Pro91Leu) c.551C>T (p.Pro184Leu) c.191C>T (p.Pro64Leu) n.668C>T (p.Pro223Leu) n.924C>T c.389C>T (p.Pro130Leu) n.67+190C>T n.635C>T (p.Pro212Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674863G>C | CA397839798 | TP53 | c.668C>G (p.Pro223Arg) c.272C>G (p.Pro91Arg) c.551C>G (p.Pro184Arg) c.191C>G (p.Pro64Arg) n.668C>G (p.Pro223Arg) n.924C>G c.389C>G (p.Pro130Arg) n.67+190C>G n.635C>G (p.Pro212Arg) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674863G>T | CA287488301 | TP53 | c.668C>A (p.Pro223His) c.272C>A (p.Pro91His) c.551C>A (p.Pro184His) c.191C>A (p.Pro64His) n.668C>A (p.Pro223His) n.924C>A c.389C>A (p.Pro130His) n.67+190C>A n.635C>A (p.Pro212His) | dbSNP COSMIC |