| 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.7674161_7674237dup | CA913190585 | TP53 | c.727_782+21dup c.331_386+21dup c.448_503+21dup c.706_761+21dup c.610_665+21dup c.250_305+21dup c.694_749+21dup | ClinVar dbSNP |
| 17 | g.7674187_7674209del | CA645588486 | TP53 | c.757_779del (p.Thr253GlnfsTer3) c.361_383del (p.Thr121GlnfsTer3) c.478_500del (p.Thr160GlnfsTer3) c.736_758del (p.Thr246GlnfsTer3) c.757_779del (p.Thr253GlnfsTer?) c.640_662del (p.Thr214GlnfsTer3) c.280_302del (p.Thr94GlnfsTer3) c.724_746del (p.Thr242GlnfsTer3) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674190_7674212del | CA2695239762 | TP53 | c.752_774del (p.Ile251ArgfsTer5) c.356_378del (p.Ile119ArgfsTer5) c.473_495del (p.Ile158ArgfsTer5) c.731_753del (p.Ile244ArgfsTer5) c.752_774del (p.Ile251ArgfsTer?) c.635_657del (p.Ile212ArgfsTer5) c.275_297del (p.Ile92ArgfsTer5) c.719_741del (p.Ile240ArgfsTer5) | |
| 17 | g.7674191_7674204del | CA2580094835 | TP53 | c.759_772del (p.Ile254ArgfsTer5) c.363_376del (p.Ile122ArgfsTer5) c.480_493del (p.Ile161ArgfsTer5) c.738_751del (p.Ile247ArgfsTer5) c.759_772del (p.Ile254ArgfsTer?) c.642_655del (p.Ile215ArgfsTer5) c.282_295del (p.Ile95ArgfsTer5) c.726_739del (p.Ile243ArgfsTer5) | ClinVar |
| 17 | g.7674197_7674204del | CA645588501 | TP53 | c.761_768del (p.Ile254ThrfsTer7) c.365_372del (p.Ile122ThrfsTer7) c.482_489del (p.Ile161ThrfsTer7) c.740_747del (p.Ile247ThrfsTer7) c.761_768del (p.Ile254ThrfsTer?) c.644_651del (p.Ile215ThrfsTer7) c.284_291del (p.Ile95ThrfsTer7) c.728_735del (p.Ile243ThrfsTer7) | COSMIC |
| 17 | g.7674195_7674218del | CA645588500 | TP53 | c.745_768del (p.Arg249_Thr256del) c.349_372del (p.Arg117_Thr124del) c.466_489del (p.Arg156_Thr163del) c.724_747del (p.Arg242_Thr249del) c.628_651del (p.Arg210_Thr217del) c.268_291del (p.Arg90_Thr97del) c.712_735del (p.Arg238_Thr245del) | COSMIC |
| 17 | g.7674200_7674208del | CA645588503 | TP53 | c.759_767del (p.Ile254_Thr256del) c.363_371del (p.Ile122_Thr124del) c.480_488del (p.Ile161_Thr163del) c.738_746del (p.Ile247_Thr249del) c.642_650del (p.Ile215_Thr217del) c.282_290del (p.Ile95_Thr97del) c.726_734del (p.Ile243_Thr245del) | ClinVar COSMIC COSMIC |
| 17 | g.7674202_7674204del | CA16620619 | TP53 | c.764_766del (p.Ile255del) c.368_370del (p.Ile123del) c.485_487del (p.Ile162del) c.743_745del (p.Ile248del) c.647_649del (p.Ile216del) c.287_289del (p.Ile96del) c.731_733del (p.Ile244del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674199_7674222del | CA2733136155 | TP53 | c.742_765del (p.Arg248_Ile255del) c.346_369del (p.Arg116_Ile123del) c.463_486del (p.Arg155_Ile162del) c.721_744del (p.Arg241_Ile248del) c.625_648del (p.Arg209_Ile216del) c.265_288del (p.Arg89_Ile96del) c.709_732del (p.Arg237_Ile244del) | dbSNP |
| 17 | g.7674199_7674203del | CA645588505 | TP53 | c.760_764del (p.Ile254HisfsTer8) c.364_368del (p.Ile122HisfsTer8) c.481_485del (p.Ile161HisfsTer8) c.739_743del (p.Ile247HisfsTer8) c.760_764del (p.Ile254HisfsTer?) c.643_647del (p.Ile215HisfsTer8) c.283_287del (p.Ile95HisfsTer8) c.727_731del (p.Ile243HisfsTer8) | COSMIC COSMIC COSMIC |
| 17 | g.7674200_7674209delinsTGATGGTGAG | CA2245951132 | TP53 | c.754_763delinsCTCACCATCA (p.Leu252=) c.358_367delinsCTCACCATCA (p.Leu120=) c.475_484delinsCTCACCATCA (p.Leu159=) c.733_742delinsCTCACCATCA (p.Leu245=) c.637_646delinsCTCACCATCA (p.Leu213=) c.277_286delinsCTCACCATCA (p.Leu93=) c.721_730delinsCTCACCATCA (p.Leu241=) | |
| 17 | g.7674201_7674202delinsAT | CA2739265546 | TP53 | c.761_762delinsAT (p.Ile254Asn) c.365_366delinsAT (p.Ile122Asn) c.482_483delinsAT (p.Ile161Asn) c.740_741delinsAT (p.Ile247Asn) c.644_645delinsAT (p.Ile215Asn) c.284_285delinsAT (p.Ile95Asn) c.728_729delinsAT (p.Ile243Asn) | ClinVar |
| 17 | g.7674206_7674214del | CA645588507 | TP53 | c.754_762del (p.Leu252_Ile254del) c.358_366del (p.Leu120_Ile122del) c.475_483del (p.Leu159_Ile161del) c.733_741del (p.Leu245_Ile247del) c.637_645del (p.Leu213_Ile215del) c.277_285del (p.Leu93_Ile95del) c.721_729del (p.Leu241_Ile243del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674202A= | CA2245951151 | TP53 | c.761T= (p.Ile254=) c.365T= (p.Ile122=) c.482T= (p.Ile161=) c.740T= (p.Ile247=) c.644T= (p.Ile215=) c.284T= (p.Ile95=) c.728T= (p.Ile243=) | |
| 17 | g.7674202A>C | CA397837758 | TP53 | c.761T>G (p.Ile254Ser) c.365T>G (p.Ile122Ser) c.482T>G (p.Ile161Ser) c.740T>G (p.Ile247Ser) c.644T>G (p.Ile215Ser) c.284T>G (p.Ile95Ser) c.728T>G (p.Ile243Ser) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674202A>G | CA397837761 | TP53 | c.761T>C (p.Ile254Thr) c.365T>C (p.Ile122Thr) c.482T>C (p.Ile161Thr) c.740T>C (p.Ile247Thr) c.644T>C (p.Ile215Thr) c.284T>C (p.Ile95Thr) c.728T>C (p.Ile243Thr) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674202A>T | CA397837760 | TP53 | c.761T>A (p.Ile254Asn) c.365T>A (p.Ile122Asn) c.482T>A (p.Ile161Asn) c.740T>A (p.Ile247Asn) c.644T>A (p.Ile215Asn) c.284T>A (p.Ile95Asn) c.728T>A (p.Ile243Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674202_7674203delinsAT | CA2245951157 | TP53 | c.760_761delinsAT (p.Ile254=) c.364_365delinsAT (p.Ile122=) c.481_482delinsAT (p.Ile161=) c.739_740delinsAT (p.Ile247=) c.643_644delinsAT (p.Ile215=) c.283_284delinsAT (p.Ile95=) c.727_728delinsAT (p.Ile243=) | |
| 17 | g.7674202_7674203delinsTC | CA645588508 | TP53 | c.760_761delinsGA (p.Ile254Asp) c.364_365delinsGA (p.Ile122Asp) c.481_482delinsGA (p.Ile161Asp) c.739_740delinsGA (p.Ile247Asp) c.643_644delinsGA (p.Ile215Asp) c.283_284delinsGA (p.Ile95Asp) c.727_728delinsGA (p.Ile243Asp) | COSMIC |
| 17 | g.7674203del | CA497716879 | TP53 | c.760del (p.Ile254SerfsTer?) c.364del (p.Ile122SerfsTer?) c.481del (p.Ile161SerfsTer?) c.739del (p.Ile247SerfsTer?) c.760del (p.Ile254SerfsTer15) c.643del (p.Ile215SerfsTer?) c.283del (p.Ile95SerfsTer?) c.727del (p.Ile243SerfsTer?) | dbSNP COSMIC |
| 17 | g.7674203T>A | CA397837763 | TP53 | c.760A>T (p.Ile254Phe) c.364A>T (p.Ile122Phe) c.481A>T (p.Ile161Phe) c.739A>T (p.Ile247Phe) c.643A>T (p.Ile215Phe) c.283A>T (p.Ile95Phe) c.727A>T (p.Ile243Phe) | COSMIC |
| 17 | g.7674203T>C | CA001720 | TP53 | c.760A>G (p.Ile254Val) c.364A>G (p.Ile122Val) c.481A>G (p.Ile161Val) c.739A>G (p.Ile247Val) c.643A>G (p.Ile215Val) c.283A>G (p.Ile95Val) c.727A>G (p.Ile243Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7674203T>G | CA397837772 | TP53 | c.760A>C (p.Ile254Leu) c.364A>C (p.Ile122Leu) c.481A>C (p.Ile161Leu) c.739A>C (p.Ile247Leu) c.643A>C (p.Ile215Leu) c.283A>C (p.Ile95Leu) c.727A>C (p.Ile243Leu) | COSMIC COSMIC COSMIC |
| 17 | g.7674203T= | CA2245951174 | TP53 | c.760A= (p.Ile254=) c.364A= (p.Ile122=) c.481A= (p.Ile161=) c.739A= (p.Ile247=) c.643A= (p.Ile215=) c.283A= (p.Ile95=) c.727A= (p.Ile243=) | |
| 17 | g.7674203_7674204delinsTG | CA2245951167 | TP53 | c.759_760delinsCA (p.Thr253=) c.363_364delinsCA (p.Thr121=) c.480_481delinsCA (p.Thr160=) c.738_739delinsCA (p.Thr246=) c.642_643delinsCA (p.Thr214=) c.282_283delinsCA (p.Thr94=) c.726_727delinsCA (p.Thr242=) | |
| 17 | g.7674203_7674206del | CA645588510 | TP53 | c.757_760del (p.Thr253SerfsTer?) c.361_364del (p.Thr121SerfsTer?) c.478_481del (p.Thr160SerfsTer?) c.736_739del (p.Thr246SerfsTer?) c.757_760del (p.Thr253SerfsTer15) c.640_643del (p.Thr214SerfsTer?) c.280_283del (p.Thr94SerfsTer?) c.724_727del (p.Thr242SerfsTer?) | COSMIC |
| 17 | g.7674205_7674207dup | CA915949526 | TP53 | c.758_760dup (p.Thr253_Ile254insThr) c.362_364dup (p.Thr121_Ile122insThr) c.479_481dup (p.Thr160_Ile161insThr) c.737_739dup (p.Thr246_Ile247insThr) c.641_643dup (p.Thr214_Ile215insThr) c.281_283dup (p.Thr94_Ile95insThr) c.725_727dup (p.Thr242_Ile243insThr) | ClinVar dbSNP |
| 17 | g.7674205_7674207del | CA645588509 | TP53 | c.758_760del (p.Thr253del) c.362_364del (p.Thr121del) c.479_481del (p.Thr160del) c.737_739del (p.Thr246del) c.641_643del (p.Thr214del) c.281_283del (p.Thr94del) c.725_727del (p.Thr242del) | COSMIC |
| 17 | g.7674204G>A | CA497717194 | TP53 | c.759C>T (p.Thr253=) c.363C>T (p.Thr121=) c.480C>T (p.Thr160=) c.738C>T (p.Thr246=) c.642C>T (p.Thr214=) c.282C>T (p.Thr94=) c.726C>T (p.Thr242=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674204G>C | CA497717196 | TP53 | c.759C>G (p.Thr253=) c.363C>G (p.Thr121=) c.480C>G (p.Thr160=) c.738C>G (p.Thr246=) c.642C>G (p.Thr214=) c.282C>G (p.Thr94=) c.726C>G (p.Thr242=) | |
| 17 | g.7674204G= | CA2245951185 | TP53 | c.759C= (p.Thr253=) c.363C= (p.Thr121=) c.480C= (p.Thr160=) c.738C= (p.Thr246=) c.642C= (p.Thr214=) c.282C= (p.Thr94=) c.726C= (p.Thr242=) | |
| 17 | g.7674204G>T | CA497717200 | TP53 | c.759C>A (p.Thr253=) c.363C>A (p.Thr121=) c.480C>A (p.Thr160=) c.738C>A (p.Thr246=) c.642C>A (p.Thr214=) c.282C>A (p.Thr94=) c.726C>A (p.Thr242=) | |
| 17 | g.7674205del | CA645588511 | TP53 | c.759del (p.Ile254SerfsTer?) c.363del (p.Ile122SerfsTer?) c.480del (p.Ile161SerfsTer?) c.738del (p.Ile247SerfsTer?) c.759del (p.Ile254SerfsTer15) c.642del (p.Ile215SerfsTer?) c.282del (p.Ile95SerfsTer?) c.726del (p.Ile243SerfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674205_7674210del | CA645588514 | TP53 | c.754_759del (p.Leu252_Thr253del) c.358_363del (p.Leu120_Thr121del) c.475_480del (p.Leu159_Thr160del) c.733_738del (p.Leu245_Thr246del) c.637_642del (p.Leu213_Thr214del) c.277_282del (p.Leu93_Thr94del) c.721_726del (p.Leu241_Thr242del) | COSMIC |
| 17 | g.7674204_7674215del | CA645588512 | TP53 | c.748_759del (p.Pro250_Thr253del) c.352_363del (p.Pro118_Thr121del) c.469_480del (p.Pro157_Thr160del) c.727_738del (p.Pro243_Thr246del) c.631_642del (p.Pro211_Thr214del) c.271_282del (p.Pro91_Thr94del) c.715_726del (p.Pro239_Thr242del) | COSMIC |
| 17 | g.7674204_7674225del | CA645588513 | TP53 | c.738_759del (p.Met246IlefsTer?) c.342_363del (p.Met114IlefsTer?) c.459_480del (p.Met153IlefsTer?) c.717_738del (p.Met239IlefsTer?) c.738_759del (p.Met246IlefsTer16) c.621_642del (p.Met207IlefsTer?) c.261_282del (p.Met87IlefsTer?) c.705_726del (p.Met235IlefsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674205G>A | CA397838857 | TP53 | c.758C>T (p.Thr253Ile) c.362C>T (p.Thr121Ile) c.479C>T (p.Thr160Ile) c.737C>T (p.Thr246Ile) c.641C>T (p.Thr214Ile) c.281C>T (p.Thr94Ile) c.725C>T (p.Thr242Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674205G>C | CA397838858 | TP53 | c.758C>G (p.Thr253Ser) c.362C>G (p.Thr121Ser) c.479C>G (p.Thr160Ser) c.737C>G (p.Thr246Ser) c.641C>G (p.Thr214Ser) c.281C>G (p.Thr94Ser) c.725C>G (p.Thr242Ser) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674205G= | CA2245951191 | TP53 | c.758C= (p.Thr253=) c.362C= (p.Thr121=) c.479C= (p.Thr160=) c.737C= (p.Thr246=) c.641C= (p.Thr214=) c.281C= (p.Thr94=) c.725C= (p.Thr242=) | |
| 17 | g.7674205G>T | CA397838859 | TP53 | c.758C>A (p.Thr253Asn) c.362C>A (p.Thr121Asn) c.479C>A (p.Thr160Asn) c.737C>A (p.Thr246Asn) c.641C>A (p.Thr214Asn) c.281C>A (p.Thr94Asn) c.725C>A (p.Thr242Asn) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674206_7674221del | CA645588517 | TP53 | c.743_758del (p.Arg248ProfsTer?) c.347_362del (p.Arg116ProfsTer?) c.464_479del (p.Arg155ProfsTer?) c.722_737del (p.Arg241ProfsTer?) c.743_758del (p.Arg248ProfsTer16) c.626_641del (p.Arg209ProfsTer?) c.266_281del (p.Arg89ProfsTer?) c.710_725del (p.Arg237ProfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674206T>A | CA397838861 | TP53 | c.757A>T (p.Thr253Ser) c.361A>T (p.Thr121Ser) c.478A>T (p.Thr160Ser) c.736A>T (p.Thr246Ser) c.640A>T (p.Thr214Ser) c.280A>T (p.Thr94Ser) c.724A>T (p.Thr242Ser) | dbSNP COSMIC |
| 17 | g.7674206T>C | CA397838863 | TP53 | c.757A>G (p.Thr253Ala) c.361A>G (p.Thr121Ala) c.478A>G (p.Thr160Ala) c.736A>G (p.Thr246Ala) c.640A>G (p.Thr214Ala) c.280A>G (p.Thr94Ala) c.724A>G (p.Thr242Ala) | ClinVar dbSNP COSMIC |
| 17 | g.7674206T>G | CA397838866 | TP53 | c.757A>C (p.Thr253Pro) c.361A>C (p.Thr121Pro) c.478A>C (p.Thr160Pro) c.736A>C (p.Thr246Pro) c.640A>C (p.Thr214Pro) c.280A>C (p.Thr94Pro) c.724A>C (p.Thr242Pro) | COSMIC |
| 17 | g.7674206T= | CA2245951201 | TP53 | c.757A= (p.Thr253=) c.361A= (p.Thr121=) c.478A= (p.Thr160=) c.736A= (p.Thr246=) c.640A= (p.Thr214=) c.280A= (p.Thr94=) c.724A= (p.Thr242=) | |
| 17 | g.7674206_7674207insAT | CA645588518 | TP53 | c.757_758insTA (p.Thr253IlefsTer?) c.361_362insTA (p.Thr121IlefsTer?) c.478_479insTA (p.Thr160IlefsTer?) c.736_737insTA (p.Thr246IlefsTer?) c.757_758insTA (p.Thr253IlefsTer17) c.640_641insTA (p.Thr214IlefsTer?) c.280_281insTA (p.Thr94IlefsTer?) c.724_725insTA (p.Thr242IlefsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674206dup | CA2580094854 | TP53 | c.757dup (p.Thr253AsnfsTer11) c.361dup (p.Thr121AsnfsTer11) c.478dup (p.Thr160AsnfsTer11) c.736dup (p.Thr246AsnfsTer11) c.757dup (p.Thr253AsnfsTer?) c.640dup (p.Thr214AsnfsTer11) c.280dup (p.Thr94AsnfsTer11) c.724dup (p.Thr242AsnfsTer11) | ClinVar |
| 17 | g.7674206_7674209delinsTGAG | CA2245951204 | TP53 | c.754_757delinsCTCA (p.Leu252=) c.358_361delinsCTCA (p.Leu120=) c.475_478delinsCTCA (p.Leu159=) c.733_736delinsCTCA (p.Leu245=) c.637_640delinsCTCA (p.Leu213=) c.277_280delinsCTCA (p.Leu93=) c.721_724delinsCTCA (p.Leu241=) |