| 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.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.7674875_7674976dup | CA2580094939 | TP53 | c.560-3_658dup c.164-3_262dup c.281-3_379dup c.539-3_637dup n.816-3_914dup n.67+79_67+180dup c.443-3_541dup c.83-3_181dup c.527-3_625dup | ClinVar |
| 17 | g.7674942_7674968del | CA645588810 | TP53 | c.566_592del (p.Ala189_Val197del) c.170_196del (p.Ala57_Val65del) c.287_313del (p.Ala96_Val104del) c.545_571del (p.Ala182_Val190del) n.822_848del n.67+88_67+114del c.449_475del (p.Ala150_Val158del) c.89_115del (p.Ala30_Val38del) c.533_559del (p.Ala178_Val186del) | COSMIC |
| 17 | g.7674953_7674977del | CA645588821 | TP53 | c.560-1_583del c.164-1_187del c.281-1_304del c.539-1_562del n.816-1_839del n.67+81_67+105del c.443-1_466del c.83-1_106del c.527-1_550del | COSMIC |
| 17 | g.7674950_7674965del | CA645588829 | TP53 | c.566_581del (p.Ala189ValfsTer?) c.170_185del (p.Ala57ValfsTer?) c.287_302del (p.Ala96ValfsTer?) c.545_560del (p.Ala182ValfsTer?) n.822_837del n.67+88_67+103del c.449_464del (p.Ala150ValfsTer?) c.89_104del (p.Ala30ValfsTer?) c.533_548del (p.Ala178ValfsTer?) | COSMIC |
| 17 | g.7674956_7674966del | CA2697552073 | TP53 | c.567_577del (p.Pro190SerfsTer15) c.171_181del (p.Pro58SerfsTer15) c.288_298del (p.Pro97SerfsTer15) c.546_556del (p.Pro183SerfsTer15) n.823_833del n.67+89_67+99del c.450_460del (p.Pro151SerfsTer15) c.90_100del (p.Pro31SerfsTer15) c.534_544del (p.Pro179SerfsTer15) | 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.7674957_7674965del | CA645588838 | TP53 | c.566_574del (p.Ala189_Gln192delinsGlu) c.170_178del (p.Ala57_Gln60delinsGlu) c.287_295del (p.Ala96_Gln99delinsGlu) c.545_553del (p.Ala182_Gln185delinsGlu) n.822_830del n.67+88_67+96del c.449_457del (p.Ala150_Gln153delinsGlu) c.89_97del (p.Ala30_Gln33delinsGlu) c.533_541del (p.Ala178_Gln181delinsGlu) | 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_7674965del | CA2573054590 | TP53 | c.567_572del (p.Pro190_Pro191del) c.171_176del (p.Pro58_Pro59del) c.288_293del (p.Pro97_Pro98del) c.546_551del (p.Pro183_Pro184del) n.823_828del n.67+89_67+94del c.450_455del (p.Pro151_Pro152del) c.90_95del (p.Pro31_Pro32del) c.534_539del (p.Pro179_Pro180del) | ClinVar dbSNP |
| 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.7674965del | CA497925393 | TP53 | c.569del (p.Pro190LeufsTer?) c.173del (p.Pro58LeufsTer?) c.290del (p.Pro97LeufsTer?) c.548del (p.Pro183LeufsTer?) n.825del n.67+91del c.452del (p.Pro151LeufsTer?) c.92del (p.Pro31LeufsTer?) c.536del (p.Pro179LeufsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674964_7674966delinsGGC | CA2245955321 | TP53 | c.565_567delinsGCC (p.Ala189=) c.169_171delinsGCC (p.Ala57=) c.286_288delinsGCC (p.Ala96=) c.544_546delinsGCC (p.Ala182=) n.821_823delinsGCC n.67+87_67+89delinsGCC c.448_450delinsGCC (p.Ala150=) c.88_90delinsGCC (p.Ala30=) c.532_534delinsGCC (p.Ala178=) | |
| 17 | g.7674965G>A | CA000270 | TP53 | c.566C>T (p.Ala189Val) c.170C>T (p.Ala57Val) c.287C>T (p.Ala96Val) c.545C>T (p.Ala182Val) n.822C>T n.67+88C>T c.449C>T (p.Ala150Val) c.89C>T (p.Ala30Val) c.533C>T (p.Ala178Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674965G>C | CA397840857 | TP53 | c.566C>G (p.Ala189Gly) c.170C>G (p.Ala57Gly) c.287C>G (p.Ala96Gly) c.545C>G (p.Ala182Gly) n.822C>G n.67+88C>G c.449C>G (p.Ala150Gly) c.89C>G (p.Ala30Gly) c.533C>G (p.Ala178Gly) | ClinVar dbSNP COSMIC |
| 17 | g.7674965G= | CA2245955331 | TP53 | c.566C= (p.Ala189=) c.170C= (p.Ala57=) c.287C= (p.Ala96=) c.545C= (p.Ala182=) n.822C= n.67+88C= c.449C= (p.Ala150=) c.89C= (p.Ala30=) c.533C= (p.Ala178=) | |
| 17 | g.7674965G>T | CA397840870 | TP53 | c.566C>A (p.Ala189Asp) c.170C>A (p.Ala57Asp) c.287C>A (p.Ala96Asp) c.545C>A (p.Ala182Asp) n.822C>A n.67+88C>A c.449C>A (p.Ala150Asp) c.89C>A (p.Ala30Asp) c.533C>A (p.Ala178Asp) | ClinVar COSMIC |
| 17 | g.7674965_7674966del | CA645588845 | TP53 | c.565_566del (p.Ala189ProfsTer19) c.169_170del (p.Ala57ProfsTer19) c.286_287del (p.Ala96ProfsTer19) c.544_545del (p.Ala182ProfsTer19) n.821_822del n.67+87_67+88del c.448_449del (p.Ala150ProfsTer19) c.88_89del (p.Ala30ProfsTer19) c.532_533del (p.Ala178ProfsTer19) | ClinVar dbSNP COSMIC |
| 17 | g.7674966_7674969del | CA645588844 | TP53 | c.563_566del (p.Leu188ProfsTer?) c.167_170del (p.Leu56ProfsTer?) c.284_287del (p.Leu95ProfsTer?) c.542_545del (p.Leu181ProfsTer?) n.819_822del n.67+85_67+88del c.446_449del (p.Leu149ProfsTer?) c.86_89del (p.Leu29ProfsTer?) c.530_533del (p.Leu177ProfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 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.7674966C>A | CA397840875 | TP53 | c.565G>T (p.Ala189Ser) c.169G>T (p.Ala57Ser) c.286G>T (p.Ala96Ser) c.544G>T (p.Ala182Ser) n.821G>T n.67+87G>T c.448G>T (p.Ala150Ser) c.88G>T (p.Ala30Ser) c.532G>T (p.Ala178Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7674966C= | CA2245955338 | TP53 | c.565G= (p.Ala189=) c.169G= (p.Ala57=) c.286G= (p.Ala96=) c.544G= (p.Ala182=) n.821G= n.67+87G= c.448G= (p.Ala150=) c.88G= (p.Ala30=) c.532G= (p.Ala178=) | |
| 17 | g.7674966C>G | CA397840879 | TP53 | c.565G>C (p.Ala189Pro) c.169G>C (p.Ala57Pro) c.286G>C (p.Ala96Pro) c.544G>C (p.Ala182Pro) n.821G>C n.67+87G>C c.448G>C (p.Ala150Pro) c.88G>C (p.Ala30Pro) c.532G>C (p.Ala178Pro) | dbSNP gnomAD v4 COSMIC |
| 17 | g.7674966C>T | CA397840887 | TP53 | c.565G>A (p.Ala189Thr) c.169G>A (p.Ala57Thr) c.286G>A (p.Ala96Thr) c.544G>A (p.Ala182Thr) n.821G>A n.67+87G>A c.448G>A (p.Ala150Thr) c.88G>A (p.Ala30Thr) c.532G>A (p.Ala178Thr) | dbSNP COSMIC |
| 17 | g.7674967del | CA497925401 | TP53 | c.565del (p.Ala189ProfsTer?) c.169del (p.Ala57ProfsTer?) c.286del (p.Ala96ProfsTer?) c.544del (p.Ala182ProfsTer?) n.821del n.67+87del c.448del (p.Ala150ProfsTer?) c.88del (p.Ala30ProfsTer?) c.532del (p.Ala178ProfsTer?) | COSMIC |
| 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.7674967C>A | CA497925403 | TP53 | c.564G>T (p.Leu188=) c.168G>T (p.Leu56=) c.285G>T (p.Leu95=) c.543G>T (p.Leu181=) n.820G>T n.67+86G>T c.447G>T (p.Leu149=) c.87G>T (p.Leu29=) c.531G>T (p.Leu177=) | dbSNP |
| 17 | g.7674967C= | CA2245955342 | TP53 | c.564G= (p.Leu188=) c.168G= (p.Leu56=) c.285G= (p.Leu95=) c.543G= (p.Leu181=) n.820G= n.67+86G= c.447G= (p.Leu149=) c.87G= (p.Leu29=) c.531G= (p.Leu177=) | |
| 17 | g.7674967C>G | CA497925404 | TP53 | c.564G>C (p.Leu188=) c.168G>C (p.Leu56=) c.285G>C (p.Leu95=) c.543G>C (p.Leu181=) n.820G>C n.67+86G>C c.447G>C (p.Leu149=) c.87G>C (p.Leu29=) c.531G>C (p.Leu177=) | dbSNP |
| 17 | g.7674967C>T | CA16607884 | TP53 | c.564G>A (p.Leu188=) c.168G>A (p.Leu56=) c.285G>A (p.Leu95=) c.543G>A (p.Leu181=) n.820G>A n.67+86G>A c.447G>A (p.Leu149=) c.87G>A (p.Leu29=) c.531G>A (p.Leu177=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7674967_7674968delinsCA | CA2245955343 | TP53 | c.563_564delinsTG (p.Leu188=) c.167_168delinsTG (p.Leu56=) c.284_285delinsTG (p.Leu95=) c.542_543delinsTG (p.Leu181=) n.819_820delinsTG n.67+85_67+86delinsTG c.446_447delinsTG (p.Leu149=) c.86_87delinsTG (p.Leu29=) c.530_531delinsTG (p.Leu177=) | |
| 17 | g.7674968_7674971dup | CA916081901 | TP53 | c.561_564dup (p.Ala189SerfsTer21) c.165_168dup (p.Ala57SerfsTer21) c.282_285dup (p.Ala96SerfsTer21) c.540_543dup (p.Ala182SerfsTer21) n.817_820dup n.67+83_67+86dup c.444_447dup (p.Ala150SerfsTer21) c.84_87dup (p.Ala30SerfsTer21) c.528_531dup (p.Ala178SerfsTer21) | ClinVar dbSNP |
| 17 | g.7674968del | CA915949534 | TP53 | c.563del (p.Leu188ArgfsTer?) c.167del (p.Leu56ArgfsTer?) c.284del (p.Leu95ArgfsTer?) c.542del (p.Leu181ArgfsTer?) n.819del n.67+85del c.446del (p.Leu149ArgfsTer?) c.86del (p.Leu29ArgfsTer?) c.530del (p.Leu177ArgfsTer?) | ClinVar dbSNP |
| 17 | g.7674968A= | CA2245955346 | TP53 | c.563T= (p.Leu188=) c.167T= (p.Leu56=) c.284T= (p.Leu95=) c.542T= (p.Leu181=) n.819T= n.67+85T= c.446T= (p.Leu149=) c.86T= (p.Leu29=) c.530T= (p.Leu177=) | |
| 17 | g.7674968A>C | CA397840892 | TP53 | c.563T>G (p.Leu188Arg) c.167T>G (p.Leu56Arg) c.284T>G (p.Leu95Arg) c.542T>G (p.Leu181Arg) n.819T>G n.67+85T>G c.446T>G (p.Leu149Arg) c.86T>G (p.Leu29Arg) c.530T>G (p.Leu177Arg) | |
| 17 | g.7674968A>G | CA397840899 | TP53 | c.563T>C (p.Leu188Pro) c.167T>C (p.Leu56Pro) c.284T>C (p.Leu95Pro) c.542T>C (p.Leu181Pro) n.819T>C n.67+85T>C c.446T>C (p.Leu149Pro) c.86T>C (p.Leu29Pro) c.530T>C (p.Leu177Pro) | dbSNP |
| 17 | g.7674968A>T | CA397840901 | TP53 | c.563T>A (p.Leu188Gln) c.167T>A (p.Leu56Gln) c.284T>A (p.Leu95Gln) c.542T>A (p.Leu181Gln) n.819T>A n.67+85T>A c.446T>A (p.Leu149Gln) c.86T>A (p.Leu29Gln) c.530T>A (p.Leu177Gln) | dbSNP |
| 17 | g.7674968_7674969delinsTA | CA645588848 | TP53 | c.562_563delinsTA (p.Leu188Ter) c.166_167delinsTA (p.Leu56Ter) c.283_284delinsTA (p.Leu95Ter) c.541_542delinsTA (p.Leu181Ter) n.818_819delinsTA n.67+84_67+85delinsTA c.445_446delinsTA (p.Leu149Ter) c.85_86delinsTA (p.Leu29Ter) c.529_530delinsTA (p.Leu177Ter) | COSMIC |
| 17 | g.7674969del | CA2739265577 | TP53 | c.562del (p.Leu188TrpfsTer?) c.166del (p.Leu56TrpfsTer?) c.283del (p.Leu95TrpfsTer?) c.541del (p.Leu181TrpfsTer?) n.818del n.67+84del c.445del (p.Leu149TrpfsTer?) c.85del (p.Leu29TrpfsTer?) c.529del (p.Leu177TrpfsTer?) | ClinVar |
| 17 | g.7674969G>A | CA497925407 | TP53 | c.562C>T (p.Leu188=) c.166C>T (p.Leu56=) c.283C>T (p.Leu95=) c.541C>T (p.Leu181=) n.818C>T n.67+84C>T c.445C>T (p.Leu149=) c.85C>T (p.Leu29=) c.529C>T (p.Leu177=) | dbSNP |
| 17 | g.7674969G>C | CA397840905 | TP53 | c.562C>G (p.Leu188Val) c.166C>G (p.Leu56Val) c.283C>G (p.Leu95Val) c.541C>G (p.Leu181Val) n.818C>G n.67+84C>G c.445C>G (p.Leu149Val) c.85C>G (p.Leu29Val) c.529C>G (p.Leu177Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674969G= | CA2245955349 | TP53 | c.562C= (p.Leu188=) c.166C= (p.Leu56=) c.283C= (p.Leu95=) c.541C= (p.Leu181=) n.818C= n.67+84C= c.445C= (p.Leu149=) c.85C= (p.Leu29=) c.529C= (p.Leu177=) | |
| 17 | g.7674969G>T | CA397840906 | TP53 | c.562C>A (p.Leu188Met) c.166C>A (p.Leu56Met) c.283C>A (p.Leu95Met) c.541C>A (p.Leu181Met) n.818C>A n.67+84C>A c.445C>A (p.Leu149Met) c.85C>A (p.Leu29Met) c.529C>A (p.Leu177Met) | COSMIC |
| 17 | g.7674969_7674970insT | CA645588850 | TP53 | c.561_562insA (p.Leu188ThrfsTer21) c.165_166insA (p.Leu56ThrfsTer21) c.282_283insA (p.Leu95ThrfsTer21) c.540_541insA (p.Leu181ThrfsTer21) n.817_818insA n.67+83_67+84insA c.444_445insA (p.Leu149ThrfsTer21) c.84_85insA (p.Leu29ThrfsTer21) c.528_529insA (p.Leu177ThrfsTer21) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674970A>C | CA497925408 | TP53 | c.561T>G (p.Gly187=) c.165T>G (p.Gly55=) c.282T>G (p.Gly94=) c.540T>G (p.Gly180=) n.817T>G n.67+83T>G c.444T>G (p.Gly148=) c.84T>G (p.Gly28=) c.528T>G (p.Gly176=) | |
| 17 | g.7674970A>G | CA497925409 | TP53 | c.561T>C (p.Gly187=) c.165T>C (p.Gly55=) c.282T>C (p.Gly94=) c.540T>C (p.Gly180=) n.817T>C n.67+83T>C c.444T>C (p.Gly148=) c.84T>C (p.Gly28=) c.528T>C (p.Gly176=) | dbSNP COSMIC |