UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.7670616_7670715del | CA645587290 | TP53 | c.995_1094del (p.Ile332ThrfsTer5) c.599_698del (p.Ile200ThrfsTer5) c.716_815del (p.Ile239ThrfsTer5) c.974_1073del (p.Ile325ThrfsTer5) c.993+2821_993+2920del (n.993+2821_993+2920del) c.782+3467_782+3566del (n.782+3467_782+3566del) c.*102_*201del (n.*102_*201del) c.*14_*113del (n.*14_*113del) c.54-1024_54-925del c.878_977del (p.Ile293ThrfsTer5) c.962_1061del (p.Ile321ThrfsTer5) c.518_617del (p.Ile173ThrfsTer5) c.878_977del (p.Ile293ThrfsTer23) | COSMIC |
| 17 | g.7670674_7670685del | CA645587301 | TP53 | c.1024_1035del (p.Arg342_Asn345del) c.628_639del (p.Arg210_Asn213del) c.745_756del (p.Arg249_Asn252del) c.1003_1014del (p.Arg335_Asn338del) c.993+2850_993+2861del (n.993+2850_993+2861del) c.782+3496_782+3507del (n.782+3496_782+3507del) c.*131_*142del (n.*131_*142del) c.*43_*54del (n.*43_*54del) c.54-995_54-984del c.907_918del (p.Arg303_Asn306del) c.991_1002del (p.Arg331_Asn334del) c.547_558del (p.Arg183_Asn186del) | COSMIC |
| 17 | g.7670675_7670684dup | CA645587302 | TP53 | c.1025_1034dup (p.Asn345LysfsTer5) c.629_638dup (p.Asn213LysfsTer5) c.746_755dup (p.Asn252LysfsTer5) c.1004_1013dup (p.Asn338LysfsTer5) c.993+2851_993+2860dup (n.993+2851_993+2860dup) c.782+3497_782+3506dup (n.782+3497_782+3506dup) c.*132_*141dup (n.*132_*141dup) c.*44_*53dup (n.*44_*53dup) c.54-994_54-985dup c.908_917dup (p.Asn306LysfsTer5) c.992_1001dup (p.Asn334LysfsTer5) c.548_557dup (p.Asn186LysfsTer5) | COSMIC COSMIC |
| 17 | g.7670683_7670684del | CA645587305 | TP53 | c.1028_1029del (p.Glu343AlafsTer3) c.632_633del (p.Glu211AlafsTer3) c.749_750del (p.Glu250AlafsTer3) c.1007_1008del (p.Glu336AlafsTer3) c.993+2854_993+2855del (n.993+2854_993+2855del) c.782+3500_782+3501del (n.782+3500_782+3501del) c.*135_*136del (n.*135_*136del) c.*47_*48del (n.*47_*48del) c.54-991_54-990del c.911_912del (p.Glu304AlafsTer3) c.995_996del (p.Glu332AlafsTer3) c.551_552del (p.Glu184AlafsTer3) | COSMIC COSMIC COSMIC |
| 17 | g.7670680_7670690delinsCTCTCGGAACA | CA2245942865 | TP53 | c.1019_1029delinsTGTTCCGAGAG (p.Met340=) c.623_633delinsTGTTCCGAGAG (p.Met208=) c.740_750delinsTGTTCCGAGAG (p.Met247=) c.998_1008delinsTGTTCCGAGAG (p.Met333=) c.993+2845_993+2855delinsTGTTCCGAGAG (n.993+2845_993+2855delinsTGTTCCGAGAG) c.782+3491_782+3501delinsTGTTCCGAGAG (n.782+3491_782+3501delinsTGTTCCGAGAG) c.*126_*136delinsTGTTCCGAGAG (n.*126_*136delinsTGTTCCGAGAG) c.*38_*48delinsTGTTCCGAGAG (n.*38_*48delinsTGTTCCGAGAG) c.54-1000_54-990delinsTGTTCCGAGAG c.902_912delinsTGTTCCGAGAG (p.Met301=) c.986_996delinsTGTTCCGAGAG (p.Met329=) c.542_552delinsTGTTCCGAGAG (p.Met181=) | |
| 17 | g.7670686_7670695del | CA913188761 | TP53 | c.1019_1028del (p.Met340SerfsTer2) c.623_632del (p.Met208SerfsTer2) c.740_749del (p.Met247SerfsTer2) c.998_1007del (p.Met333SerfsTer2) c.993+2845_993+2854del (n.993+2845_993+2854del) c.782+3491_782+3500del (n.782+3491_782+3500del) c.*126_*135del (n.*126_*135del) c.*38_*47del (n.*38_*47del) c.54-1000_54-991del c.902_911del (p.Met301SerfsTer2) c.986_995del (p.Met329SerfsTer2) c.542_551del (p.Met181SerfsTer2) | ClinVar dbSNP |
| 17 | g.7670684del | CA497712603 | TP53 | c.1025del (p.Arg342GlnfsTer3) c.629del (p.Arg210GlnfsTer3) c.746del (p.Arg249GlnfsTer3) c.1004del (p.Arg335GlnfsTer3) c.993+2851del (n.993+2851del) c.782+3497del (n.782+3497del) c.*132del (n.*132del) c.*44del (n.*44del) c.54-994del c.908del (p.Arg303GlnfsTer3) c.992del (p.Arg331GlnfsTer3) c.548del (p.Arg183GlnfsTer3) | COSMIC |
| 17 | g.7670684C>A | CA397832566 | TP53 | c.1025G>T (p.Arg342Leu) c.629G>T (p.Arg210Leu) c.746G>T (p.Arg249Leu) c.1004G>T (p.Arg335Leu) c.993+2851G>T (n.993+2851G>T) c.782+3497G>T (n.782+3497G>T) c.*132G>T (n.*132G>T) c.*44G>T (n.*44G>T) c.54-994G>T c.908G>T (p.Arg303Leu) c.992G>T (p.Arg331Leu) c.548G>T (p.Arg183Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7670684C= | CA2245942882 | TP53 | c.1025G= (p.Arg342=) c.629G= (p.Arg210=) c.746G= (p.Arg249=) c.1004G= (p.Arg335=) c.993+2851G= (n.993+2851G=) c.782+3497G= (n.782+3497G=) c.*132G= (n.*132G=) c.*44G= (n.*44G=) c.54-994G= c.908G= (p.Arg303=) c.992G= (p.Arg331=) c.548G= (p.Arg183=) | |
| 17 | g.7670684C>G | CA337802 | TP53 | c.1025G>C (p.Arg342Pro) c.629G>C (p.Arg210Pro) c.746G>C (p.Arg249Pro) c.1004G>C (p.Arg335Pro) c.993+2851G>C (n.993+2851G>C) c.782+3497G>C (n.782+3497G>C) c.*132G>C (n.*132G>C) c.*44G>C (n.*44G>C) c.54-994G>C c.908G>C (p.Arg303Pro) c.992G>C (p.Arg331Pro) c.548G>C (p.Arg183Pro) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7670684C>T | CA000835 | TP53 | c.1025G>A (p.Arg342Gln) c.629G>A (p.Arg210Gln) c.746G>A (p.Arg249Gln) c.1004G>A (p.Arg335Gln) c.993+2851G>A (n.993+2851G>A) c.782+3497G>A (n.782+3497G>A) c.*132G>A (n.*132G>A) c.*44G>A (n.*44G>A) c.54-994G>A c.908G>A (p.Arg303Gln) c.992G>A (p.Arg331Gln) c.548G>A (p.Arg183Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7670684_7670685del | CA2697559388 | TP53 | c.1024_1025del (p.Glu343AlafsTer3) c.628_629del (p.Glu211AlafsTer3) c.745_746del (p.Glu250AlafsTer3) c.1003_1004del (p.Glu336AlafsTer3) c.993+2850_993+2851del (n.993+2850_993+2851del) c.782+3496_782+3497del (n.782+3496_782+3497del) c.*131_*132del (n.*131_*132del) c.*43_*44del (n.*43_*44del) c.54-995_54-994del c.907_908del (p.Glu304AlafsTer3) c.991_992del (p.Glu332AlafsTer3) c.547_548del (p.Glu184AlafsTer3) | ClinVar |
| 17 | g.7670684_7670685delinsAA | CA915949512 | TP53 | c.1024_1025delinsTT (p.Arg342Leu) c.628_629delinsTT (p.Arg210Leu) c.745_746delinsTT (p.Arg249Leu) c.1003_1004delinsTT (p.Arg335Leu) c.993+2850_993+2851delinsTT (n.993+2850_993+2851delinsTT) c.782+3496_782+3497delinsTT (n.782+3496_782+3497delinsTT) c.*131_*132delinsTT (n.*131_*132delinsTT) c.*43_*44delinsTT (n.*43_*44delinsTT) c.54-995_54-994delinsTT c.907_908delinsTT (p.Arg303Leu) c.991_992delinsTT (p.Arg331Leu) c.547_548delinsTT (p.Arg183Leu) | ClinVar dbSNP |
| 17 | g.7670684_7670685delinsCG | CA2245942885 | TP53 | c.1024_1025delinsCG (p.Arg342=) c.628_629delinsCG (p.Arg210=) c.745_746delinsCG (p.Arg249=) c.1003_1004delinsCG (p.Arg335=) c.993+2850_993+2851delinsCG (n.993+2850_993+2851delinsCG) c.782+3496_782+3497delinsCG (n.782+3496_782+3497delinsCG) c.*131_*132delinsCG (n.*131_*132delinsCG) c.*43_*44delinsCG (n.*43_*44delinsCG) c.54-995_54-994delinsCG c.907_908delinsCG (p.Arg303=) c.991_992delinsCG (p.Arg331=) c.547_548delinsCG (p.Arg183=) | |
| 17 | g.7670684_7670686delinsCGG | CA2245942886 | TP53 | c.1023_1025delinsCCG (p.Phe341=) c.627_629delinsCCG (p.Phe209=) c.744_746delinsCCG (p.Phe248=) c.1002_1004delinsCCG (p.Phe334=) c.993+2849_993+2851delinsCCG (n.993+2849_993+2851delinsCCG) c.782+3495_782+3497delinsCCG (n.782+3495_782+3497delinsCCG) c.*130_*132delinsCCG (n.*130_*132delinsCCG) c.*42_*44delinsCCG (n.*42_*44delinsCCG) c.54-996_54-994delinsCCG c.906_908delinsCCG (p.Phe302=) c.990_992delinsCCG (p.Phe330=) c.546_548delinsCCG (p.Phe182=) | |
| 17 | g.7670685G>A | CA000019 | TP53 | c.1024C>T (p.Arg342Ter) c.628C>T (p.Arg210Ter) c.745C>T (p.Arg249Ter) c.1003C>T (p.Arg335Ter) c.993+2850C>T (n.993+2850C>T) c.782+3496C>T (n.782+3496C>T) c.*131C>T (n.*131C>T) c.*43C>T (n.*43C>T) c.54-995C>T c.907C>T (p.Arg303Ter) c.991C>T (p.Arg331Ter) c.547C>T (p.Arg183Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7670685G>C | CA397832599 | TP53 | c.1024C>G (p.Arg342Gly) c.628C>G (p.Arg210Gly) c.745C>G (p.Arg249Gly) c.1003C>G (p.Arg335Gly) c.993+2850C>G (n.993+2850C>G) c.782+3496C>G (n.782+3496C>G) c.*131C>G (n.*131C>G) c.*43C>G (n.*43C>G) c.54-995C>G c.907C>G (p.Arg303Gly) c.991C>G (p.Arg331Gly) c.547C>G (p.Arg183Gly) | ClinVar dbSNP |
| 17 | g.7670685G= | CA2245942905 | TP53 | c.1024C= (p.Arg342=) c.628C= (p.Arg210=) c.745C= (p.Arg249=) c.1003C= (p.Arg335=) c.993+2850C= (n.993+2850C=) c.782+3496C= (n.782+3496C=) c.*131C= (n.*131C=) c.*43C= (n.*43C=) c.54-995C= c.907C= (p.Arg303=) c.991C= (p.Arg331=) c.547C= (p.Arg183=) | |
| 17 | g.7670685G>T | CA497712604 | TP53 | c.1024C>A (p.Arg342=) c.628C>A (p.Arg210=) c.745C>A (p.Arg249=) c.1003C>A (p.Arg335=) c.993+2850C>A (n.993+2850C>A) c.782+3496C>A (n.782+3496C>A) c.*131C>A (n.*131C>A) c.*43C>A (n.*43C>A) c.54-995C>A c.907C>A (p.Arg303=) c.991C>A (p.Arg331=) c.547C>A (p.Arg183=) | dbSNP |
| 17 | g.7670685_7670686delinsA | CA919785603 | TP53 | c.1023_1024delinsT (p.Arg342GlufsTer3) c.627_628delinsT (p.Arg210GlufsTer3) c.744_745delinsT (p.Arg249GlufsTer3) c.1002_1003delinsT (p.Arg335GlufsTer3) c.993+2849_993+2850delinsT (n.993+2849_993+2850delinsT) c.782+3495_782+3496delinsT (n.782+3495_782+3496delinsT) c.*130_*131delinsT (n.*130_*131delinsT) c.*42_*43delinsT (n.*42_*43delinsT) c.54-996_54-995delinsT c.906_907delinsT (p.Arg303GlufsTer3) c.990_991delinsT (p.Arg331GlufsTer3) c.546_547delinsT (p.Arg183GlufsTer3) | dbSNP |
| 17 | g.7670685_7670686delinsAA | CA645587307 | TP53 | c.1023_1024delinsTT (p.Phe342Ter) c.627_628delinsTT (p.Phe210Ter) c.744_745delinsTT (p.Phe249Ter) c.1002_1003delinsTT (p.Phe335Ter) c.993+2849_993+2850delinsTT (n.993+2849_993+2850delinsTT) c.782+3495_782+3496delinsTT (n.782+3495_782+3496delinsTT) c.*130_*131delinsTT (n.*130_*131delinsTT) c.*42_*43delinsTT (n.*42_*43delinsTT) c.54-996_54-995delinsTT c.906_907delinsTT (p.Phe303Ter) c.990_991delinsTT (p.Phe331Ter) c.546_547delinsTT (p.Phe183Ter) | COSMIC COSMIC |
| 17 | g.7670686del | CA497712605 | TP53 | c.1024del (p.Arg342GlufsTer3) c.628del (p.Arg210GlufsTer3) c.745del (p.Arg249GlufsTer3) c.1003del (p.Arg335GlufsTer3) c.993+2850del (n.993+2850del) c.782+3496del (n.782+3496del) c.*131del (n.*131del) c.*43del (n.*43del) c.54-995del c.907del (p.Arg303GlufsTer3) c.991del (p.Arg331GlufsTer3) c.547del (p.Arg183GlufsTer3) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7670685_7670686insA | CA645587309 | TP53 | c.1023_1024insT (p.Arg342SerfsTer5) c.627_628insT (p.Arg210SerfsTer5) c.744_745insT (p.Arg249SerfsTer5) c.1002_1003insT (p.Arg335SerfsTer5) c.993+2849_993+2850insT (n.993+2849_993+2850insT) c.782+3495_782+3496insT (n.782+3495_782+3496insT) c.*130_*131insT (n.*130_*131insT) c.*42_*43insT (n.*42_*43insT) c.54-996_54-995insT c.906_907insT (p.Arg303SerfsTer5) c.990_991insT (p.Arg331SerfsTer5) c.546_547insT (p.Arg183SerfsTer5) | COSMIC |
| 17 | g.7670685_7670686insTTCAGCTCTC | CA645587310 | TP53 | c.1023_1024insGAGAGCTGAA (p.Arg342GlufsTer3) c.627_628insGAGAGCTGAA (p.Arg210GlufsTer3) c.744_745insGAGAGCTGAA (p.Arg249GlufsTer3) c.1002_1003insGAGAGCTGAA (p.Arg335GlufsTer3) c.993+2849_993+2850insGAGAGCTGAA (n.993+2849_993+2850insGAGAGCTGAA) c.782+3495_782+3496insGAGAGCTGAA (n.782+3495_782+3496insGAGAGCTGAA) c.*130_*131insGAGAGCTGAA (n.*130_*131insGAGAGCTGAA) c.*42_*43insGAGAGCTGAA (n.*42_*43insGAGAGCTGAA) c.54-996_54-995insGAGAGCTGAA c.906_907insGAGAGCTGAA (p.Arg303GlufsTer3) c.990_991insGAGAGCTGAA (p.Arg331GlufsTer3) c.546_547insGAGAGCTGAA (p.Arg183GlufsTer3) | COSMIC COSMIC |
| 17 | g.7670686G>A | CA349981 | TP53 | c.1023C>T (p.Phe341=) c.627C>T (p.Phe209=) c.744C>T (p.Phe248=) c.1002C>T (p.Phe334=) c.993+2849C>T (n.993+2849C>T) c.782+3495C>T (n.782+3495C>T) c.*130C>T (n.*130C>T) c.*42C>T (n.*42C>T) c.54-996C>T c.906C>T (p.Phe302=) c.990C>T (p.Phe330=) c.546C>T (p.Phe182=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7670686G>C | CA397832612 | TP53 | c.1023C>G (p.Phe341Leu) c.627C>G (p.Phe209Leu) c.744C>G (p.Phe248Leu) c.1002C>G (p.Phe334Leu) c.993+2849C>G (n.993+2849C>G) c.782+3495C>G (n.782+3495C>G) c.*130C>G (n.*130C>G) c.*42C>G (n.*42C>G) c.54-996C>G c.906C>G (p.Phe302Leu) c.990C>G (p.Phe330Leu) c.546C>G (p.Phe182Leu) | ClinVar dbSNP |
| 17 | g.7670686G= | CA2245942920 | TP53 | c.1023C= (p.Phe341=) c.627C= (p.Phe209=) c.744C= (p.Phe248=) c.1002C= (p.Phe334=) c.993+2849C= (n.993+2849C=) c.782+3495C= (n.782+3495C=) c.*130C= (n.*130C=) c.*42C= (n.*42C=) c.54-996C= c.906C= (p.Phe302=) c.990C= (p.Phe330=) c.546C= (p.Phe182=) | |
| 17 | g.7670686G>T | CA397832608 | TP53 | c.1023C>A (p.Phe341Leu) c.627C>A (p.Phe209Leu) c.744C>A (p.Phe248Leu) c.1002C>A (p.Phe334Leu) c.993+2849C>A (n.993+2849C>A) c.782+3495C>A (n.782+3495C>A) c.*130C>A (n.*130C>A) c.*42C>A (n.*42C>A) c.54-996C>A c.906C>A (p.Phe302Leu) c.990C>A (p.Phe330Leu) c.546C>A (p.Phe182Leu) | dbSNP COSMIC |
| 17 | g.7670686_7670687del | CA645587308 | TP53 | c.1022_1023del (p.Phe341SerfsTer5) c.626_627del (p.Phe209SerfsTer5) c.743_744del (p.Phe248SerfsTer5) c.1001_1002del (p.Phe334SerfsTer5) c.993+2848_993+2849del (n.993+2848_993+2849del) c.782+3494_782+3495del (n.782+3494_782+3495del) c.*129_*130del (n.*129_*130del) c.*41_*42del (n.*41_*42del) c.54-997_54-996del c.905_906del (p.Phe302SerfsTer5) c.989_990del (p.Phe330SerfsTer5) c.545_546del (p.Phe182SerfsTer5) | COSMIC COSMIC |
| 17 | g.7670687A>C | CA397832615 | TP53 | c.1022T>G (p.Phe341Cys) c.626T>G (p.Phe209Cys) c.743T>G (p.Phe248Cys) c.1001T>G (p.Phe334Cys) c.993+2848T>G (n.993+2848T>G) c.782+3494T>G (n.782+3494T>G) c.*129T>G (n.*129T>G) c.*41T>G (n.*41T>G) c.54-997T>G c.905T>G (p.Phe302Cys) c.989T>G (p.Phe330Cys) c.545T>G (p.Phe182Cys) | COSMIC |
| 17 | g.7670687A>G | CA397832622 | TP53 | c.1022T>C (p.Phe341Ser) c.626T>C (p.Phe209Ser) c.743T>C (p.Phe248Ser) c.1001T>C (p.Phe334Ser) c.993+2848T>C (n.993+2848T>C) c.782+3494T>C (n.782+3494T>C) c.*129T>C (n.*129T>C) c.*41T>C (n.*41T>C) c.54-997T>C c.905T>C (p.Phe302Ser) c.989T>C (p.Phe330Ser) c.545T>C (p.Phe182Ser) | COSMIC COSMIC |
| 17 | g.7670687A>T | CA397832617 | TP53 | c.1022T>A (p.Phe341Tyr) c.626T>A (p.Phe209Tyr) c.743T>A (p.Phe248Tyr) c.1001T>A (p.Phe334Tyr) c.993+2848T>A (n.993+2848T>A) c.782+3494T>A (n.782+3494T>A) c.*129T>A (n.*129T>A) c.*41T>A (n.*41T>A) c.54-997T>A c.905T>A (p.Phe302Tyr) c.989T>A (p.Phe330Tyr) c.545T>A (p.Phe182Tyr) | dbSNP |
| 17 | g.7670687_7670688delinsAA | CA2245942926 | TP53 | c.1021_1022delinsTT (p.Phe341=) c.625_626delinsTT (p.Phe209=) c.742_743delinsTT (p.Phe248=) c.1000_1001delinsTT (p.Phe334=) c.993+2847_993+2848delinsTT (n.993+2847_993+2848delinsTT) c.782+3493_782+3494delinsTT (n.782+3493_782+3494delinsTT) c.*128_*129delinsTT (n.*128_*129delinsTT) c.*40_*41delinsTT (n.*40_*41delinsTT) c.54-998_54-997delinsTT c.904_905delinsTT (p.Phe302=) c.988_989delinsTT (p.Phe330=) c.544_545delinsTT (p.Phe182=) | |
| 17 | g.7670687_7670688delinsCT | CA2580094859 | TP53 | c.1021_1022delinsAG (p.Phe341Ser) c.625_626delinsAG (p.Phe209Ser) c.742_743delinsAG (p.Phe248Ser) c.1000_1001delinsAG (p.Phe334Ser) c.993+2847_993+2848delinsAG (n.993+2847_993+2848delinsAG) c.782+3493_782+3494delinsAG (n.782+3493_782+3494delinsAG) c.*128_*129delinsAG (n.*128_*129delinsAG) c.*40_*41delinsAG (n.*40_*41delinsAG) c.54-998_54-997delinsAG c.904_905delinsAG (p.Phe302Ser) c.988_989delinsAG (p.Phe330Ser) c.544_545delinsAG (p.Phe182Ser) | ClinVar |
| 17 | g.7670688del | CA497712606 | TP53 | c.1022del (p.Phe341SerfsTer4) c.626del (p.Phe209SerfsTer4) c.743del (p.Phe248SerfsTer4) c.1001del (p.Phe334SerfsTer4) c.993+2848del (n.993+2848del) c.782+3494del (n.782+3494del) c.*129del (n.*129del) c.*41del (n.*41del) c.54-997del c.905del (p.Phe302SerfsTer4) c.989del (p.Phe330SerfsTer4) c.545del (p.Phe182SerfsTer4) | ClinVar COSMIC |
| 17 | g.7670687_7670694del | CA645587311 | TP53 | c.1015_1022del (p.Glu339ProfsTer5) c.619_626del (p.Glu207ProfsTer5) c.736_743del (p.Glu246ProfsTer5) c.994_1001del (p.Glu332ProfsTer5) c.993+2841_993+2848del (n.993+2841_993+2848del) c.782+3487_782+3494del (n.782+3487_782+3494del) c.*122_*129del (n.*122_*129del) c.*34_*41del (n.*34_*41del) c.54-1004_54-997del c.898_905del (p.Glu300ProfsTer5) c.982_989del (p.Glu328ProfsTer5) c.538_545del (p.Glu180ProfsTer5) | COSMIC COSMIC |
| 17 | g.7670688A>C | CA397832624 | TP53 | c.1021T>G (p.Phe341Val) c.625T>G (p.Phe209Val) c.742T>G (p.Phe248Val) c.1000T>G (p.Phe334Val) c.993+2847T>G (n.993+2847T>G) c.782+3493T>G (n.782+3493T>G) c.*128T>G (n.*128T>G) c.*40T>G (n.*40T>G) c.54-998T>G c.904T>G (p.Phe302Val) c.988T>G (p.Phe330Val) c.544T>G (p.Phe182Val) | |
| 17 | g.7670688A>G | CA397832628 | TP53 | c.1021T>C (p.Phe341Leu) c.625T>C (p.Phe209Leu) c.742T>C (p.Phe248Leu) c.1000T>C (p.Phe334Leu) c.993+2847T>C (n.993+2847T>C) c.782+3493T>C (n.782+3493T>C) c.*128T>C (n.*128T>C) c.*40T>C (n.*40T>C) c.54-998T>C c.904T>C (p.Phe302Leu) c.988T>C (p.Phe330Leu) c.544T>C (p.Phe182Leu) | |
| 17 | g.7670688A>T | CA397832636 | TP53 | c.1021T>A (p.Phe341Ile) c.625T>A (p.Phe209Ile) c.742T>A (p.Phe248Ile) c.1000T>A (p.Phe334Ile) c.993+2847T>A (n.993+2847T>A) c.782+3493T>A (n.782+3493T>A) c.*128T>A (n.*128T>A) c.*40T>A (n.*40T>A) c.54-998T>A c.904T>A (p.Phe302Ile) c.988T>A (p.Phe330Ile) c.544T>A (p.Phe182Ile) | ClinVar dbSNP |
| 17 | g.7670688delinsTTC | CA1139665113 | TP53 | c.1021delinsGAA (p.Phe341GlufsTer5) c.625delinsGAA (p.Phe209GlufsTer5) c.742delinsGAA (p.Phe248GlufsTer5) c.1000delinsGAA (p.Phe334GlufsTer5) c.993+2847delinsGAA (n.993+2847delinsGAA) c.782+3493delinsGAA (n.782+3493delinsGAA) c.*128delinsGAA (n.*128delinsGAA) c.*40delinsGAA (n.*40delinsGAA) c.54-998delinsGAA c.904delinsGAA (p.Phe302GlufsTer5) c.988delinsGAA (p.Phe330GlufsTer5) c.544delinsGAA (p.Phe182GlufsTer5) | ClinVar dbSNP |
| 17 | g.7670688_7670694dup | CA645587313 | TP53 | c.1015_1021dup (p.Phe341Ter) c.619_625dup (p.Phe209Ter) c.736_742dup (p.Phe248Ter) c.994_1000dup (p.Phe334Ter) c.993+2841_993+2847dup (n.993+2841_993+2847dup) c.782+3487_782+3493dup (n.782+3487_782+3493dup) c.*122_*128dup (n.*122_*128dup) c.*34_*40dup (n.*34_*40dup) c.54-1004_54-998dup c.898_904dup (p.Phe302Ter) c.982_988dup (p.Phe330Ter) c.538_544dup (p.Phe182Ter) | COSMIC COSMIC |
| 17 | g.7670689C>A | CA397832641 | TP53 | c.1020G>T (p.Met340Ile) c.624G>T (p.Met208Ile) c.741G>T (p.Met247Ile) c.999G>T (p.Met333Ile) c.993+2846G>T (n.993+2846G>T) c.782+3492G>T (n.782+3492G>T) c.*127G>T (n.*127G>T) c.*39G>T (n.*39G>T) c.54-999G>T c.903G>T (p.Met301Ile) c.987G>T (p.Met329Ile) c.543G>T (p.Met181Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.7670689C= | CA2245942934 | TP53 | c.1020G= (p.Met340=) c.624G= (p.Met208=) c.741G= (p.Met247=) c.999G= (p.Met333=) c.993+2846G= (n.993+2846G=) c.782+3492G= (n.782+3492G=) c.*127G= (n.*127G=) c.*39G= (n.*39G=) c.54-999G= c.903G= (p.Met301=) c.987G= (p.Met329=) c.543G= (p.Met181=) | |
| 17 | g.7670689C>G | CA397832643 | TP53 | c.1020G>C (p.Met340Ile) c.624G>C (p.Met208Ile) c.741G>C (p.Met247Ile) c.999G>C (p.Met333Ile) c.993+2846G>C (n.993+2846G>C) c.782+3492G>C (n.782+3492G>C) c.*127G>C (n.*127G>C) c.*39G>C (n.*39G>C) c.54-999G>C c.903G>C (p.Met301Ile) c.987G>C (p.Met329Ile) c.543G>C (p.Met181Ile) | dbSNP |
| 17 | g.7670689C>T | CA397832656 | TP53 | c.1020G>A (p.Met340Ile) c.624G>A (p.Met208Ile) c.741G>A (p.Met247Ile) c.999G>A (p.Met333Ile) c.993+2846G>A (n.993+2846G>A) c.782+3492G>A (n.782+3492G>A) c.*127G>A (n.*127G>A) c.*39G>A (n.*39G>A) c.54-999G>A c.903G>A (p.Met301Ile) c.987G>A (p.Met329Ile) c.543G>A (p.Met181Ile) | ClinVar dbSNP COSMIC |
| 17 | g.7670689_7670709del | CA645587314 | TP53 | c.1000_1020del (p.Gly334_Met340del) c.604_624del (p.Gly202_Met208del) c.721_741del (p.Gly241_Met247del) c.979_999del (p.Gly327_Met333del) c.993+2826_993+2846del (n.993+2826_993+2846del) c.782+3472_782+3492del (n.782+3472_782+3492del) c.*107_*127del (n.*107_*127del) c.*19_*39del (n.*19_*39del) c.54-1019_54-999del c.883_903del (p.Gly295_Met301del) c.967_987del (p.Gly323_Met329del) c.523_543del (p.Gly175_Met181del) | COSMIC COSMIC |
| 17 | g.7670690A= | CA2245942943 | TP53 | c.1019T= (p.Met340=) c.623T= (p.Met208=) c.740T= (p.Met247=) c.998T= (p.Met333=) c.993+2845T= (n.993+2845T=) c.782+3491T= (n.782+3491T=) c.*126T= (n.*126T=) c.*38T= (n.*38T=) c.54-1000T= c.902T= (p.Met301=) c.986T= (p.Met329=) c.542T= (p.Met181=) | |
| 17 | g.7670690A>C | CA397832661 | TP53 | c.1019T>G (p.Met340Arg) c.623T>G (p.Met208Arg) c.740T>G (p.Met247Arg) c.998T>G (p.Met333Arg) c.993+2845T>G (n.993+2845T>G) c.782+3491T>G (n.782+3491T>G) c.*126T>G (n.*126T>G) c.*38T>G (n.*38T>G) c.54-1000T>G c.902T>G (p.Met301Arg) c.986T>G (p.Met329Arg) c.542T>G (p.Met181Arg) |