| 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.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.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.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.7674869_7674886del | CA2580617666 | TP53 | c.645_662del (p.Ser215_Glu221delinsArg) c.249_266del (p.Ser83_Glu89delinsArg) c.366_383del (p.Ser122_Glu128delinsArg) c.624_641del (p.Ser208_Glu214delinsArg) n.901_918del n.67+167_67+184del c.528_545del (p.Ser176_Glu182delinsArg) c.168_185del (p.Ser56_Glu62delinsArg) c.612_629del (p.Ser204_Glu210delinsArg) | ClinVar |
| 17 | g.7674872_7674881del | CA645588722 | TP53 | c.652_661del (p.Val218SerfsTer26) c.256_265del (p.Val86SerfsTer26) c.373_382del (p.Val125SerfsTer26) c.631_640del (p.Val211SerfsTer26) n.908_917del n.67+174_67+183del c.535_544del (p.Val179SerfsTer26) c.175_184del (p.Val59SerfsTer26) c.619_628del (p.Val207SerfsTer26) | COSMIC |
| 17 | g.7674872_7674886del | CA645588723 | TP53 | c.647_661del (p.Val216_Tyr220del) c.251_265del (p.Val84_Tyr88del) c.368_382del (p.Val123_Tyr127del) c.626_640del (p.Val209_Tyr213del) n.903_917del n.67+169_67+183del c.530_544del (p.Val177_Tyr181del) c.170_184del (p.Val57_Tyr61del) c.614_628del (p.Val205_Tyr209del) | COSMIC |
| 17 | g.7674873_7674890del | CA2695223076 | TP53 | c.643_660del (p.Ser215_Tyr220del) c.247_264del (p.Ser83_Tyr88del) c.364_381del (p.Ser122_Tyr127del) c.622_639del (p.Ser208_Tyr213del) n.899_916del n.67+165_67+182del c.526_543del (p.Ser176_Tyr181del) c.166_183del (p.Ser56_Tyr61del) c.610_627del (p.Ser204_Tyr209del) | |
| 17 | g.7674874_7674889del | CA645588725 | TP53 | c.644_659del (p.Ser215MetfsTer27) c.248_263del (p.Ser83MetfsTer27) c.365_380del (p.Ser122MetfsTer27) c.623_638del (p.Ser208MetfsTer27) n.900_915del n.67+166_67+181del c.527_542del (p.Ser176MetfsTer27) c.167_182del (p.Ser56MetfsTer27) c.611_626del (p.Ser204MetfsTer27) | COSMIC |
| 17 | g.7674872_7674909del | CA645588726 | TP53 | c.622_659del (p.Asp208Ter) c.226_263del (p.Asp76Ter) c.343_380del (p.Asp115Ter) c.601_638del (p.Asp201Ter) n.878_915del n.67+144_67+181del c.505_542del (p.Asp169Ter) c.145_182del (p.Asp49Ter) c.589_626del (p.Asp197Ter) | COSMIC |
| 17 | g.7674874_7674881del | CA2573154668 | TP53 | c.651_658del (p.Val218Ter) c.255_262del (p.Val86Ter) c.372_379del (p.Val125Ter) c.630_637del (p.Val211Ter) n.907_914del n.67+173_67+180del c.534_541del (p.Val179Ter) c.174_181del (p.Val59Ter) c.618_625del (p.Val207Ter) | ClinVar dbSNP |
| 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.7674875_7674884del | CA645588730 | TP53 | c.647_656del (p.Val216AlafsTer28) c.251_260del (p.Val84AlafsTer28) c.368_377del (p.Val123AlafsTer28) c.626_635del (p.Val209AlafsTer28) n.903_912del n.67+169_67+178del c.530_539del (p.Val177AlafsTer28) c.170_179del (p.Val57AlafsTer28) c.614_623del (p.Val205AlafsTer28) | COSMIC |
| 17 | g.7674877_7674901del | CA645588731 | TP53 | c.631_655del (p.Thr211ProfsTer28) c.235_259del (p.Thr79ProfsTer28) c.352_376del (p.Thr118ProfsTer28) c.610_634del (p.Thr204ProfsTer28) n.887_911del n.67+153_67+177del c.514_538del (p.Thr172ProfsTer28) c.154_178del (p.Thr52ProfsTer28) c.598_622del (p.Thr200ProfsTer28) | COSMIC |
| 17 | g.7674883_7674885dup | CA891842252 | TP53 | c.652_654dup (p.Val218_Pro219insVal) c.256_258dup (p.Val86_Pro87insVal) c.373_375dup (p.Val125_Pro126insVal) c.631_633dup (p.Val211_Pro212insVal) n.908_910dup n.67+174_67+176dup c.535_537dup (p.Val179_Pro180insVal) c.175_177dup (p.Val59_Pro60insVal) c.619_621dup (p.Val207_Pro208insVal) | |
| 17 | g.7674883_7674885del | CA16044100 | TP53 | c.652_654del (p.Val218del) c.256_258del (p.Val86del) c.373_375del (p.Val125del) c.631_633del (p.Val211del) n.908_910del n.67+174_67+176del c.535_537del (p.Val179del) c.175_177del (p.Val59del) c.619_621del (p.Val207del) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674878_7674886del | CA645588733 | TP53 | c.645_653del (p.Ser215_Val218delinsArg) c.249_257del (p.Ser83_Val86delinsArg) c.366_374del (p.Ser122_Val125delinsArg) c.624_632del (p.Ser208_Val211delinsArg) n.901_909del n.67+167_67+175del c.528_536del (p.Ser176_Val179delinsArg) c.168_176del (p.Ser56_Val59delinsArg) c.612_620del (p.Ser204_Val207delinsArg) | COSMIC |
| 17 | g.7674879_7674887del | CA645588735 | TP53 | c.644_652del (p.Ser215_Val218delinsMet) c.248_256del (p.Ser83_Val86delinsMet) c.365_373del (p.Ser122_Val125delinsMet) c.623_631del (p.Ser208_Val211delinsMet) n.900_908del n.67+166_67+174del c.527_535del (p.Ser176_Val179delinsMet) c.167_175del (p.Ser56_Val59delinsMet) c.611_619del (p.Ser204_Val207delinsMet) | COSMIC |
| 17 | g.7674879_7674888del | CA645588734 | TP53 | c.643_652del (p.Ser215CysfsTer29) c.247_256del (p.Ser83CysfsTer29) c.364_373del (p.Ser122CysfsTer29) c.622_631del (p.Ser208CysfsTer29) n.899_908del n.67+165_67+174del c.526_535del (p.Ser176CysfsTer29) c.166_175del (p.Ser56CysfsTer29) c.610_619del (p.Ser204CysfsTer29) | COSMIC |
| 17 | g.7674883_7674887dup | CA913190590 | TP53 | c.647_651dup (p.Val218TrpfsTer31) c.251_255dup (p.Val86TrpfsTer31) c.368_372dup (p.Val125TrpfsTer31) c.626_630dup (p.Val211TrpfsTer31) n.903_907dup n.67+169_67+173dup c.530_534dup (p.Val179TrpfsTer31) c.170_174dup (p.Val59TrpfsTer31) c.614_618dup (p.Val207TrpfsTer31) | ClinVar dbSNP |
| 17 | g.7674881A>C | CA397839953 | TP53 | c.650T>G (p.Val217Gly) c.254T>G (p.Val85Gly) c.371T>G (p.Val124Gly) c.629T>G (p.Val210Gly) n.906T>G n.67+172T>G c.533T>G (p.Val178Gly) c.173T>G (p.Val58Gly) c.617T>G (p.Val206Gly) | dbSNP gnomAD v4 |
| 17 | g.7674881A>G | CA397839955 | TP53 | c.650T>C (p.Val217Ala) c.254T>C (p.Val85Ala) c.371T>C (p.Val124Ala) c.629T>C (p.Val210Ala) n.906T>C n.67+172T>C c.533T>C (p.Val178Ala) c.173T>C (p.Val58Ala) c.617T>C (p.Val206Ala) | COSMIC |
| 17 | g.7674881A>T | CA397839961 | TP53 | c.650T>A (p.Val217Glu) c.254T>A (p.Val85Glu) c.371T>A (p.Val124Glu) c.629T>A (p.Val210Glu) n.906T>A n.67+172T>A c.533T>A (p.Val178Glu) c.173T>A (p.Val58Glu) c.617T>A (p.Val206Glu) | dbSNP COSMIC |
| 17 | g.7674881_7674889del | CA645588736 | TP53 | c.642_650del (p.His214_Val217delinsGln) c.246_254del (p.His82_Val85delinsGln) c.363_371del (p.His121_Val124delinsGln) c.621_629del (p.His207_Val210delinsGln) n.898_906del n.67+164_67+172del c.525_533del (p.His175_Val178delinsGln) c.165_173del (p.His55_Val58delinsGln) c.609_617del (p.His203_Val206delinsGln) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674882C>A | CA397839966 | TP53 | c.649G>T (p.Val217Leu) c.253G>T (p.Val85Leu) c.370G>T (p.Val124Leu) c.628G>T (p.Val210Leu) n.905G>T n.67+171G>T c.532G>T (p.Val178Leu) c.172G>T (p.Val58Leu) c.616G>T (p.Val206Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7674882C= | CA2245954192 | TP53 | c.649G= (p.Val217=) c.253G= (p.Val85=) c.370G= (p.Val124=) c.628G= (p.Val210=) n.905G= n.67+171G= c.532G= (p.Val178=) c.172G= (p.Val58=) c.616G= (p.Val206=) | |
| 17 | g.7674882C>G | CA397839964 | TP53 | c.649G>C (p.Val217Leu) c.253G>C (p.Val85Leu) c.370G>C (p.Val124Leu) c.628G>C (p.Val210Leu) n.905G>C n.67+171G>C c.532G>C (p.Val178Leu) c.172G>C (p.Val58Leu) c.616G>C (p.Val206Leu) | |
| 17 | g.7674882C>T | CA000309 | TP53 | c.649G>A (p.Val217Met) c.253G>A (p.Val85Met) c.370G>A (p.Val124Met) c.628G>A (p.Val210Met) n.905G>A n.67+171G>A c.532G>A (p.Val178Met) c.172G>A (p.Val58Met) c.616G>A (p.Val206Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7674883del | CA2580094946 | TP53 | c.649del (p.Val217TrpfsTer30) c.253del (p.Val85TrpfsTer30) c.370del (p.Val124TrpfsTer30) c.628del (p.Val210TrpfsTer30) n.905del n.67+171del c.532del (p.Val178TrpfsTer30) c.172del (p.Val58TrpfsTer30) c.616del (p.Val206TrpfsTer30) | ClinVar |
| 17 | g.7674883_7674909del | CA645588738 | TP53 | c.623_649del (p.Asp208_Val216del) c.227_253del (p.Asp76_Val84del) c.344_370del (p.Asp115_Val123del) c.602_628del (p.Asp201_Val209del) n.879_905del n.67+145_67+171del c.506_532del (p.Asp169_Val177del) c.146_172del (p.Asp49_Val57del) c.590_616del (p.Asp197_Val205del) | COSMIC |
| 17 | g.7674885_7674914del | CA645588737 | TP53 | c.620_649del (p.Asp207_Val216del) c.224_253del (p.Asp75_Val84del) c.341_370del (p.Asp114_Val123del) c.599_628del (p.Asp200_Val209del) n.876_905del n.67+142_67+171del c.503_532del (p.Asp168_Val177del) c.143_172del (p.Asp48_Val57del) c.587_616del (p.Asp196_Val205del) | COSMIC |
| 17 | g.7674883C>A | CA497925295 | TP53 | c.648G>T (p.Val216=) c.252G>T (p.Val84=) c.369G>T (p.Val123=) c.627G>T (p.Val209=) n.904G>T n.67+170G>T c.531G>T (p.Val177=) c.171G>T (p.Val57=) c.615G>T (p.Val205=) | |
| 17 | g.7674883C= | CA2245954205 | TP53 | c.648G= (p.Val216=) c.252G= (p.Val84=) c.369G= (p.Val123=) c.627G= (p.Val209=) n.904G= n.67+170G= c.531G= (p.Val177=) c.171G= (p.Val57=) c.615G= (p.Val205=) | |
| 17 | g.7674883C>G | CA002159 | TP53 | c.648G>C (p.Val216=) c.252G>C (p.Val84=) c.369G>C (p.Val123=) c.627G>C (p.Val209=) n.904G>C n.67+170G>C c.531G>C (p.Val177=) c.171G>C (p.Val57=) c.615G>C (p.Val205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7674883C>T | CA497925296 | TP53 | c.648G>A (p.Val216=) c.252G>A (p.Val84=) c.369G>A (p.Val123=) c.627G>A (p.Val209=) n.904G>A n.67+170G>A c.531G>A (p.Val177=) c.171G>A (p.Val57=) c.615G>A (p.Val205=) | ClinVar dbSNP |
| 17 | g.7674886_7674887del | CA645588739 | TP53 | c.647_648del (p.Val216GlyfsTer5) c.251_252del (p.Val84GlyfsTer5) c.368_369del (p.Val123GlyfsTer5) c.626_627del (p.Val209GlyfsTer5) n.903_904del n.67+169_67+170del c.530_531del (p.Val177GlyfsTer5) c.170_171del (p.Val57GlyfsTer5) c.614_615del (p.Val205GlyfsTer5) | COSMIC |
| 17 | g.7674884del | CA497925297 | TP53 | c.647del (p.Val216GlyfsTer?) c.251del (p.Val84GlyfsTer?) c.368del (p.Val123GlyfsTer?) c.626del (p.Val209GlyfsTer?) n.903del n.67+169del c.530del (p.Val177GlyfsTer?) c.170del (p.Val57GlyfsTer?) c.614del (p.Val205GlyfsTer?) | COSMIC |
| 17 | g.7674884A= | CA2245954219 | TP53 | c.647T= (p.Val216=) c.251T= (p.Val84=) c.368T= (p.Val123=) c.626T= (p.Val209=) n.903T= n.67+169T= c.530T= (p.Val177=) c.170T= (p.Val57=) c.614T= (p.Val205=) | |
| 17 | g.7674884A>C | CA16603085 | TP53 | c.647T>G (p.Val216Gly) c.251T>G (p.Val84Gly) c.368T>G (p.Val123Gly) c.626T>G (p.Val209Gly) n.903T>G n.67+169T>G c.530T>G (p.Val177Gly) c.170T>G (p.Val57Gly) c.614T>G (p.Val205Gly) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674884A>G | CA397839975 | TP53 | c.647T>C (p.Val216Ala) c.251T>C (p.Val84Ala) c.368T>C (p.Val123Ala) c.626T>C (p.Val209Ala) n.903T>C n.67+169T>C c.530T>C (p.Val177Ala) c.170T>C (p.Val57Ala) c.614T>C (p.Val205Ala) | dbSNP COSMIC |
| 17 | g.7674884A>T | CA16603086 | TP53 | c.647T>A (p.Val216Glu) c.251T>A (p.Val84Glu) c.368T>A (p.Val123Glu) c.626T>A (p.Val209Glu) n.903T>A n.67+169T>A c.530T>A (p.Val177Glu) c.170T>A (p.Val57Glu) c.614T>A (p.Val205Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674884_7674886del | CA2573154669 | TP53 | c.645_647del (p.Ser215_Val216delinsArg) c.249_251del (p.Ser83_Val84delinsArg) c.366_368del (p.Ser122_Val123delinsArg) c.624_626del (p.Ser208_Val209delinsArg) n.901_903del n.67+167_67+169del c.528_530del (p.Ser176_Val177delinsArg) c.168_170del (p.Ser56_Val57delinsArg) c.612_614del (p.Ser204_Val205delinsArg) | ClinVar dbSNP |
| 17 | g.7674884_7674891del | CA645588741 | TP53 | c.640_647del (p.His214GlyfsTer5) c.244_251del (p.His82GlyfsTer5) c.361_368del (p.His121GlyfsTer5) c.619_626del (p.His207GlyfsTer5) n.896_903del n.67+162_67+169del c.523_530del (p.His175GlyfsTer5) c.163_170del (p.His55GlyfsTer5) c.607_614del (p.His203GlyfsTer5) | COSMIC |
| 17 | g.7674885C>A | CA16603084 | TP53 | c.646G>T (p.Val216Leu) c.250G>T (p.Val84Leu) c.367G>T (p.Val123Leu) c.625G>T (p.Val209Leu) n.902G>T n.67+168G>T c.529G>T (p.Val177Leu) c.169G>T (p.Val57Leu) c.613G>T (p.Val205Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674885C= | CA2245954239 | TP53 | c.646G= (p.Val216=) c.250G= (p.Val84=) c.367G= (p.Val123=) c.625G= (p.Val209=) n.902G= n.67+168G= c.529G= (p.Val177=) c.169G= (p.Val57=) c.613G= (p.Val205=) | |
| 17 | g.7674885C>G | CA16615950 | TP53 | c.646G>C (p.Val216Leu) c.250G>C (p.Val84Leu) c.367G>C (p.Val123Leu) c.625G>C (p.Val209Leu) n.902G>C n.67+168G>C c.529G>C (p.Val177Leu) c.169G>C (p.Val57Leu) c.613G>C (p.Val205Leu) | ClinVar dbSNP |
| 17 | g.7674885C>T | CA000308 | TP53 | c.646G>A (p.Val216Met) c.250G>A (p.Val84Met) c.367G>A (p.Val123Met) c.625G>A (p.Val209Met) n.902G>A n.67+168G>A c.529G>A (p.Val177Met) c.169G>A (p.Val57Met) c.613G>A (p.Val205Met) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674885delinsACCA | CA2695223078 | TP53 | c.646delinsTGGT (p.Val216delinsTrpLeu) c.250delinsTGGT (p.Val84delinsTrpLeu) c.367delinsTGGT (p.Val123delinsTrpLeu) c.625delinsTGGT (p.Val209delinsTrpLeu) n.902delinsTGGT n.67+168delinsTGGT c.529delinsTGGT (p.Val177delinsTrpLeu) c.169delinsTGGT (p.Val57delinsTrpLeu) c.613delinsTGGT (p.Val205delinsTrpLeu) |