WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.7670628_7670666del | CA645587292 | TP53 | c.1043_1081del (p.Leu348_Gly361delinsTrp) c.647_685del (p.Leu216_Gly229delinsTrp) c.764_802del (p.Leu255_Gly268delinsTrp) c.1022_1060del (p.Leu341_Gly354delinsTrp) c.993+2869_993+2907del (n.993+2869_993+2907del) c.782+3515_782+3553del (n.782+3515_782+3553del) c.*150_*188del (n.*150_*188del) c.*62_*100del (n.*62_*100del) c.54-976_54-938del c.926_964del (p.Leu309_Gly322delinsTrp) c.1010_1048del (p.Leu337_Gly350delinsTrp) c.566_604del (p.Leu189_Gly202delinsTrp) | COSMIC |
| 17 | g.7670642_7670677del | CA645587293 | TP53 | c.1035_1070del (p.Asn345_Gly356del) c.639_674del (p.Asn213_Gly224del) c.756_791del (p.Asn252_Gly263del) c.1014_1049del (p.Asn338_Gly349del) c.993+2861_993+2896del (n.993+2861_993+2896del) c.782+3507_782+3542del (n.782+3507_782+3542del) c.*142_*177del (n.*142_*177del) c.*54_*89del (n.*54_*89del) c.54-984_54-949del c.918_953del (p.Asn306_Gly317del) c.1002_1037del (p.Asn334_Gly345del) c.558_593del (p.Asn186_Gly197del) | COSMIC COSMIC |
| 17 | g.7670640_7670670delinsAAGGT | CA645587294 | TP53 | c.1039_1069delinsACCTT (p.Ala347ThrfsTer26) c.643_673delinsACCTT (p.Ala215ThrfsTer26) c.760_790delinsACCTT (p.Ala254ThrfsTer26) c.1018_1048delinsACCTT (p.Ala340ThrfsTer26) c.993+2865_993+2895delinsACCTT (n.993+2865_993+2895delinsACCTT) c.782+3511_782+3541delinsACCTT (n.782+3511_782+3541delinsACCTT) c.*146_*176delinsACCTT (n.*146_*176delinsACCTT) c.*58_*88delinsACCTT (n.*58_*88delinsACCTT) c.54-980_54-950delinsACCTT c.922_952delinsACCTT (p.Ala308ThrfsTer26) c.1006_1036delinsACCTT (p.Ala336ThrfsTer26) c.562_592delinsACCTT (p.Ala188ThrfsTer26) c.922_952delinsACCTT (p.Ala308ThrfsTer31) | COSMIC |
| 17 | g.7670645_7670666delinsTGC | CA2695200372 | TP53 | c.1043_1064delinsGCA (p.Leu348CysfsTer16) c.647_668delinsGCA (p.Leu216CysfsTer16) c.764_785delinsGCA (p.Leu255CysfsTer16) c.1022_1043delinsGCA (p.Leu341CysfsTer16) c.993+2869_993+2890delinsGCA (n.993+2869_993+2890delinsGCA) c.782+3515_782+3536delinsGCA (n.782+3515_782+3536delinsGCA) c.*150_*171delinsGCA (n.*150_*171delinsGCA) c.*62_*83delinsGCA (n.*62_*83delinsGCA) c.54-976_54-955delinsGCA c.926_947delinsGCA (p.Leu309CysfsTer16) c.1010_1031delinsGCA (p.Leu337CysfsTer16) c.566_587delinsGCA (p.Leu189CysfsTer16) c.926_947delinsGCA (p.Leu309CysfsTer?) | ClinVar |
| 17 | g.7670648_7670666del | CA645587295 | TP53 | c.1043_1061del (p.Leu348TrpfsTer16) c.647_665del (p.Leu216TrpfsTer16) c.764_782del (p.Leu255TrpfsTer16) c.1022_1040del (p.Leu341TrpfsTer16) c.993+2869_993+2887del (n.993+2869_993+2887del) c.782+3515_782+3533del (n.782+3515_782+3533del) c.*150_*168del (n.*150_*168del) c.*62_*80del (n.*62_*80del) c.54-976_54-958del c.926_944del (p.Leu309TrpfsTer16) c.1010_1028del (p.Leu337TrpfsTer16) c.566_584del (p.Leu189TrpfsTer16) c.926_944del (p.Leu309TrpfsTer?) | COSMIC |
| 17 | g.7670649G>A | CA397832178 | TP53 | c.1060C>T (p.Gln354Ter) c.664C>T (p.Gln222Ter) c.781C>T (p.Gln261Ter) c.1039C>T (p.Gln347Ter) c.993+2886C>T (n.993+2886C>T) c.782+3532C>T (n.782+3532C>T) c.*167C>T (n.*167C>T) c.*79C>T (n.*79C>T) c.54-959C>T c.943C>T (p.Gln315Ter) c.1027C>T (p.Gln343Ter) c.583C>T (p.Gln195Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7670649G>C | CA397832179 | TP53 | c.1060C>G (p.Gln354Glu) c.664C>G (p.Gln222Glu) c.781C>G (p.Gln261Glu) c.1039C>G (p.Gln347Glu) c.993+2886C>G (n.993+2886C>G) c.782+3532C>G (n.782+3532C>G) c.*167C>G (n.*167C>G) c.*79C>G (n.*79C>G) c.54-959C>G c.943C>G (p.Gln315Glu) c.1027C>G (p.Gln343Glu) c.583C>G (p.Gln195Glu) | ClinVar dbSNP |
| 17 | g.7670649G= | CA2245942608 | TP53 | c.1060C= (p.Gln354=) c.664C= (p.Gln222=) c.781C= (p.Gln261=) c.1039C= (p.Gln347=) c.993+2886C= (n.993+2886C=) c.782+3532C= (n.782+3532C=) c.*167C= (n.*167C=) c.*79C= (n.*79C=) c.54-959C= c.943C= (p.Gln315=) c.1027C= (p.Gln343=) c.583C= (p.Gln195=) | |
| 17 | g.7670649G>T | CA000816 | TP53 | c.1060C>A (p.Gln354Lys) c.664C>A (p.Gln222Lys) c.781C>A (p.Gln261Lys) c.1039C>A (p.Gln347Lys) c.993+2886C>A (n.993+2886C>A) c.782+3532C>A (n.782+3532C>A) c.*167C>A (n.*167C>A) c.*79C>A (n.*79C>A) c.54-959C>A c.943C>A (p.Gln315Lys) c.1027C>A (p.Gln343Lys) c.583C>A (p.Gln195Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7670650G>A | CA497712535 | TP53 | c.1059C>T (p.Ala353=) c.663C>T (p.Ala221=) c.780C>T (p.Ala260=) c.1038C>T (p.Ala346=) c.993+2885C>T (n.993+2885C>T) c.782+3531C>T (n.782+3531C>T) c.*166C>T (n.*166C>T) c.*78C>T (n.*78C>T) c.54-960C>T c.942C>T (p.Ala314=) c.1026C>T (p.Ala342=) c.582C>T (p.Ala194=) | |
| 17 | g.7670650G>C | CA497712536 | TP53 | c.1059C>G (p.Ala353=) c.663C>G (p.Ala221=) c.780C>G (p.Ala260=) c.1038C>G (p.Ala346=) c.993+2885C>G (n.993+2885C>G) c.782+3531C>G (n.782+3531C>G) c.*166C>G (n.*166C>G) c.*78C>G (n.*78C>G) c.54-960C>G c.942C>G (p.Ala314=) c.1026C>G (p.Ala342=) c.582C>G (p.Ala194=) | dbSNP |
| 17 | g.7670650G>T | CA497712538 | TP53 | c.1059C>A (p.Ala353=) c.663C>A (p.Ala221=) c.780C>A (p.Ala260=) c.1038C>A (p.Ala346=) c.993+2885C>A (n.993+2885C>A) c.782+3531C>A (n.782+3531C>A) c.*166C>A (n.*166C>A) c.*78C>A (n.*78C>A) c.54-960C>A c.942C>A (p.Ala314=) c.1026C>A (p.Ala342=) c.582C>A (p.Ala194=) | ClinVar dbSNP |
| 17 | g.7670651_7670661del | CA645587296 | TP53 | c.1049_1059del (p.Leu350ProfsTer28) c.653_663del (p.Leu218ProfsTer28) c.770_780del (p.Leu257ProfsTer28) c.1028_1038del (p.Leu343ProfsTer28) c.993+2875_993+2885del (n.993+2875_993+2885del) c.782+3521_782+3531del (n.782+3521_782+3531del) c.*156_*166del (n.*156_*166del) c.*68_*78del (n.*68_*78del) c.54-970_54-960del c.932_942del (p.Leu311ProfsTer28) c.1016_1026del (p.Leu339ProfsTer28) c.572_582del (p.Leu191ProfsTer28) c.932_942del (p.Leu311ProfsTer?) | COSMIC |
| 17 | g.7670651G>A | CA397832186 | TP53 | c.1058C>T (p.Ala353Val) c.662C>T (p.Ala221Val) c.779C>T (p.Ala260Val) c.1037C>T (p.Ala346Val) c.993+2884C>T (n.993+2884C>T) c.782+3530C>T (n.782+3530C>T) c.*165C>T (n.*165C>T) c.*77C>T (n.*77C>T) c.54-961C>T c.941C>T (p.Ala314Val) c.1025C>T (p.Ala342Val) c.581C>T (p.Ala194Val) | dbSNP COSMIC COSMIC |
| 17 | g.7670651G>C | CA397832205 | TP53 | c.1058C>G (p.Ala353Gly) c.662C>G (p.Ala221Gly) c.779C>G (p.Ala260Gly) c.1037C>G (p.Ala346Gly) c.993+2884C>G (n.993+2884C>G) c.782+3530C>G (n.782+3530C>G) c.*165C>G (n.*165C>G) c.*77C>G (n.*77C>G) c.54-961C>G c.941C>G (p.Ala314Gly) c.1025C>G (p.Ala342Gly) c.581C>G (p.Ala194Gly) | dbSNP |
| 17 | g.7670651G>T | CA397832209 | TP53 | c.1058C>A (p.Ala353Asp) c.662C>A (p.Ala221Asp) c.779C>A (p.Ala260Asp) c.1037C>A (p.Ala346Asp) c.993+2884C>A (n.993+2884C>A) c.782+3530C>A (n.782+3530C>A) c.*165C>A (n.*165C>A) c.*77C>A (n.*77C>A) c.54-961C>A c.941C>A (p.Ala314Asp) c.1025C>A (p.Ala342Asp) c.581C>A (p.Ala194Asp) | dbSNP |
| 17 | g.7670652C>A | CA397832219 | TP53 | c.1057G>T (p.Ala353Ser) c.661G>T (p.Ala221Ser) c.778G>T (p.Ala260Ser) c.1036G>T (p.Ala346Ser) c.993+2883G>T (n.993+2883G>T) c.782+3529G>T (n.782+3529G>T) c.*164G>T (n.*164G>T) c.*76G>T (n.*76G>T) c.54-962G>T c.940G>T (p.Ala314Ser) c.1024G>T (p.Ala342Ser) c.580G>T (p.Ala194Ser) | ClinVar dbSNP |
| 17 | g.7670652C>G | CA397832220 | TP53 | c.1057G>C (p.Ala353Pro) c.661G>C (p.Ala221Pro) c.778G>C (p.Ala260Pro) c.1036G>C (p.Ala346Pro) c.993+2883G>C (n.993+2883G>C) c.782+3529G>C (n.782+3529G>C) c.*164G>C (n.*164G>C) c.*76G>C (n.*76G>C) c.54-962G>C c.940G>C (p.Ala314Pro) c.1024G>C (p.Ala342Pro) c.580G>C (p.Ala194Pro) | dbSNP |
| 17 | g.7670652C>T | CA397832221 | TP53 | c.1057G>A (p.Ala353Thr) c.661G>A (p.Ala221Thr) c.778G>A (p.Ala260Thr) c.1036G>A (p.Ala346Thr) c.993+2883G>A (n.993+2883G>A) c.782+3529G>A (n.782+3529G>A) c.*164G>A (n.*164G>A) c.*76G>A (n.*76G>A) c.54-962G>A c.940G>A (p.Ala314Thr) c.1024G>A (p.Ala342Thr) c.580G>A (p.Ala194Thr) | dbSNP COSMIC |
| 17 | g.7670653_7670671del | CA645587297 | TP53 | c.1039_1057del (p.Ala347ProfsTer17) c.643_661del (p.Ala215ProfsTer17) c.760_778del (p.Ala254ProfsTer17) c.1018_1036del (p.Ala340ProfsTer17) c.993+2865_993+2883del (n.993+2865_993+2883del) c.782+3511_782+3529del (n.782+3511_782+3529del) c.*146_*164del (n.*146_*164del) c.*58_*76del (n.*58_*76del) c.54-980_54-962del c.922_940del (p.Ala308ProfsTer17) c.1006_1024del (p.Ala336ProfsTer17) c.562_580del (p.Ala188ProfsTer17) c.922_940del (p.Ala308ProfsTer?) | COSMIC |
| 17 | g.7670653A>C | CA397832227 | TP53 | c.1056T>G (p.Asp352Glu) c.660T>G (p.Asp220Glu) c.777T>G (p.Asp259Glu) c.1035T>G (p.Asp345Glu) c.993+2882T>G (n.993+2882T>G) c.782+3528T>G (n.782+3528T>G) c.*163T>G (n.*163T>G) c.*75T>G (n.*75T>G) c.54-963T>G c.939T>G (p.Asp313Glu) c.1023T>G (p.Asp341Glu) c.579T>G (p.Asp193Glu) | ClinVar |
| 17 | g.7670653A>G | CA497712540 | TP53 | c.1056T>C (p.Asp352=) c.660T>C (p.Asp220=) c.777T>C (p.Asp259=) c.1035T>C (p.Asp345=) c.993+2882T>C (n.993+2882T>C) c.782+3528T>C (n.782+3528T>C) c.*163T>C (n.*163T>C) c.*75T>C (n.*75T>C) c.54-963T>C c.939T>C (p.Asp313=) c.1023T>C (p.Asp341=) c.579T>C (p.Asp193=) | |
| 17 | g.7670653A>T | CA397832224 | TP53 | c.1056T>A (p.Asp352Glu) c.660T>A (p.Asp220Glu) c.777T>A (p.Asp259Glu) c.1035T>A (p.Asp345Glu) c.993+2882T>A (n.993+2882T>A) c.782+3528T>A (n.782+3528T>A) c.*163T>A (n.*163T>A) c.*75T>A (n.*75T>A) c.54-963T>A c.939T>A (p.Asp313Glu) c.1023T>A (p.Asp341Glu) c.579T>A (p.Asp193Glu) | dbSNP |
| 17 | g.7670653_7670654delinsTG | CA10575448 | TP53 | c.1055_1056delinsCA (p.Asp352Ala) c.659_660delinsCA (p.Asp220Ala) c.776_777delinsCA (p.Asp259Ala) c.1034_1035delinsCA (p.Asp345Ala) c.993+2881_993+2882delinsCA (n.993+2881_993+2882delinsCA) c.782+3527_782+3528delinsCA (n.782+3527_782+3528delinsCA) c.*162_*163delinsCA (n.*162_*163delinsCA) c.*74_*75delinsCA (n.*74_*75delinsCA) c.54-964_54-963delinsCA c.938_939delinsCA (p.Asp313Ala) c.1022_1023delinsCA (p.Asp341Ala) c.578_579delinsCA (p.Asp193Ala) | |
| 17 | g.7670654T>A | CA397832231 | TP53 | c.1055A>T (p.Asp352Val) c.659A>T (p.Asp220Val) c.776A>T (p.Asp259Val) c.1034A>T (p.Asp345Val) c.993+2881A>T (n.993+2881A>T) c.782+3527A>T (n.782+3527A>T) c.*162A>T (n.*162A>T) c.*74A>T (n.*74A>T) c.54-964A>T c.938A>T (p.Asp313Val) c.1022A>T (p.Asp341Val) c.578A>T (p.Asp193Val) | |
| 17 | g.7670654T>C | CA397832234 | TP53 | c.1055A>G (p.Asp352Gly) c.659A>G (p.Asp220Gly) c.776A>G (p.Asp259Gly) c.1034A>G (p.Asp345Gly) c.993+2881A>G (n.993+2881A>G) c.782+3527A>G (n.782+3527A>G) c.*162A>G (n.*162A>G) c.*74A>G (n.*74A>G) c.54-964A>G c.938A>G (p.Asp313Gly) c.1022A>G (p.Asp341Gly) c.578A>G (p.Asp193Gly) | |
| 17 | g.7670654T>G | CA397832238 | TP53 | c.1055A>C (p.Asp352Ala) c.659A>C (p.Asp220Ala) c.776A>C (p.Asp259Ala) c.1034A>C (p.Asp345Ala) c.993+2881A>C (n.993+2881A>C) c.782+3527A>C (n.782+3527A>C) c.*162A>C (n.*162A>C) c.*74A>C (n.*74A>C) c.54-964A>C c.938A>C (p.Asp313Ala) c.1022A>C (p.Asp341Ala) c.578A>C (p.Asp193Ala) | |
| 17 | g.7670654_7670663del | CA2573154613 | TP53 | c.1046_1055del (p.Glu349ValfsTer18) c.650_659del (p.Glu217ValfsTer18) c.767_776del (p.Glu256ValfsTer18) c.1025_1034del (p.Glu342ValfsTer18) c.993+2872_993+2881del (n.993+2872_993+2881del) c.782+3518_782+3527del (n.782+3518_782+3527del) c.*153_*162del (n.*153_*162del) c.*65_*74del (n.*65_*74del) c.54-973_54-964del c.929_938del (p.Glu310ValfsTer18) c.1013_1022del (p.Glu338ValfsTer18) c.569_578del (p.Glu190ValfsTer18) c.929_938del (p.Glu310ValfsTer?) | ClinVar dbSNP |
| 17 | g.7670655C>A | CA397832246 | TP53 | c.1054G>T (p.Asp352Tyr) c.658G>T (p.Asp220Tyr) c.775G>T (p.Asp259Tyr) c.1033G>T (p.Asp345Tyr) c.993+2880G>T (n.993+2880G>T) c.782+3526G>T (n.782+3526G>T) c.*161G>T (n.*161G>T) c.*73G>T (n.*73G>T) c.54-965G>T c.937G>T (p.Asp313Tyr) c.1021G>T (p.Asp341Tyr) c.577G>T (p.Asp193Tyr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7670655C= | CA2245942622 | TP53 | c.1054G= (p.Asp352=) c.658G= (p.Asp220=) c.775G= (p.Asp259=) c.1033G= (p.Asp345=) c.993+2880G= (n.993+2880G=) c.782+3526G= (n.782+3526G=) c.*161G= (n.*161G=) c.*73G= (n.*73G=) c.54-965G= c.937G= (p.Asp313=) c.1021G= (p.Asp341=) c.577G= (p.Asp193=) | |
| 17 | g.7670655C>G | CA397832249 | TP53 | c.1054G>C (p.Asp352His) c.658G>C (p.Asp220His) c.775G>C (p.Asp259His) c.1033G>C (p.Asp345His) c.993+2880G>C (n.993+2880G>C) c.782+3526G>C (n.782+3526G>C) c.*161G>C (n.*161G>C) c.*73G>C (n.*73G>C) c.54-965G>C c.937G>C (p.Asp313His) c.1021G>C (p.Asp341His) c.577G>C (p.Asp193His) | ClinVar dbSNP |
| 17 | g.7670655C>T | CA397832256 | TP53 | c.1054G>A (p.Asp352Asn) c.658G>A (p.Asp220Asn) c.775G>A (p.Asp259Asn) c.1033G>A (p.Asp345Asn) c.993+2880G>A (n.993+2880G>A) c.782+3526G>A (n.782+3526G>A) c.*161G>A (n.*161G>A) c.*73G>A (n.*73G>A) c.54-965G>A c.937G>A (p.Asp313Asn) c.1021G>A (p.Asp341Asn) c.577G>A (p.Asp193Asn) | dbSNP |
| 17 | g.7670656del | CA2573154614 | TP53 | c.1054del (p.Asp352MetfsTer18) c.658del (p.Asp220MetfsTer18) c.775del (p.Asp259MetfsTer18) c.1033del (p.Asp345MetfsTer18) c.993+2880del (n.993+2880del) c.782+3526del (n.782+3526del) c.*161del (n.*161del) c.*73del (n.*73del) c.54-965del c.937del (p.Asp313MetfsTer18) c.1021del (p.Asp341MetfsTer18) c.577del (p.Asp193MetfsTer18) c.937del (p.Asp313MetfsTer?) | ClinVar dbSNP |
| 17 | g.7670655_7670667del | CA2733133570 | TP53 | c.1042_1054del (p.Leu348MetfsTer18) c.646_658del (p.Leu216MetfsTer18) c.763_775del (p.Leu255MetfsTer18) c.1021_1033del (p.Leu341MetfsTer18) c.993+2868_993+2880del (n.993+2868_993+2880del) c.782+3514_782+3526del (n.782+3514_782+3526del) c.*149_*161del (n.*149_*161del) c.*61_*73del (n.*61_*73del) c.54-977_54-965del c.925_937del (p.Leu309MetfsTer18) c.1009_1021del (p.Leu337MetfsTer18) c.565_577del (p.Leu189MetfsTer18) c.925_937del (p.Leu309MetfsTer?) | dbSNP |
| 17 | g.7670658_7670672del | CA2733133408 | TP53 | c.1040_1054del (p.Ala347_Lys351del) c.644_658del (p.Ala215_Lys219del) c.761_775del (p.Ala254_Lys258del) c.1019_1033del (p.Ala340_Lys344del) c.993+2866_993+2880del (n.993+2866_993+2880del) c.782+3512_782+3526del (n.782+3512_782+3526del) c.*147_*161del (n.*147_*161del) c.*59_*73del (n.*59_*73del) c.54-979_54-965del c.923_937del (p.Ala308_Lys312del) c.1007_1021del (p.Ala336_Lys340del) c.563_577del (p.Ala188_Lys192del) | dbSNP |
| 17 | g.7670656C>A | CA397832268 | TP53 | c.1053G>T (p.Lys351Asn) c.657G>T (p.Lys219Asn) c.774G>T (p.Lys258Asn) c.1032G>T (p.Lys344Asn) c.993+2879G>T (n.993+2879G>T) c.782+3525G>T (n.782+3525G>T) c.*160G>T (n.*160G>T) c.*72G>T (n.*72G>T) c.54-966G>T c.936G>T (p.Lys312Asn) c.1020G>T (p.Lys340Asn) c.576G>T (p.Lys192Asn) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7670656C= | CA2245942636 | TP53 | c.1053G= (p.Lys351=) c.657G= (p.Lys219=) c.774G= (p.Lys258=) c.1032G= (p.Lys344=) c.993+2879G= (n.993+2879G=) c.782+3525G= (n.782+3525G=) c.*160G= (n.*160G=) c.*72G= (n.*72G=) c.54-966G= c.936G= (p.Lys312=) c.1020G= (p.Lys340=) c.576G= (p.Lys192=) | |
| 17 | g.7670656C>G | CA397832273 | TP53 | c.1053G>C (p.Lys351Asn) c.657G>C (p.Lys219Asn) c.774G>C (p.Lys258Asn) c.1032G>C (p.Lys344Asn) c.993+2879G>C (n.993+2879G>C) c.782+3525G>C (n.782+3525G>C) c.*160G>C (n.*160G>C) c.*72G>C (n.*72G>C) c.54-966G>C c.936G>C (p.Lys312Asn) c.1020G>C (p.Lys340Asn) c.576G>C (p.Lys192Asn) | |
| 17 | g.7670656C>T | CA497712543 | TP53 | c.1053G>A (p.Lys351=) c.657G>A (p.Lys219=) c.774G>A (p.Lys258=) c.1032G>A (p.Lys344=) c.993+2879G>A (n.993+2879G>A) c.782+3525G>A (n.782+3525G>A) c.*160G>A (n.*160G>A) c.*72G>A (n.*72G>A) c.54-966G>A c.936G>A (p.Lys312=) c.1020G>A (p.Lys340=) c.576G>A (p.Lys192=) | dbSNP |
| 17 | g.7670657T>A | CA397832276 | TP53 | c.1052A>T (p.Lys351Met) c.656A>T (p.Lys219Met) c.773A>T (p.Lys258Met) c.1031A>T (p.Lys344Met) c.993+2878A>T (n.993+2878A>T) c.782+3524A>T (n.782+3524A>T) c.*159A>T (n.*159A>T) c.*71A>T (n.*71A>T) c.54-967A>T c.935A>T (p.Lys312Met) c.1019A>T (p.Lys340Met) c.575A>T (p.Lys192Met) | dbSNP |
| 17 | g.7670657T>C | CA397832291 | TP53 | c.1052A>G (p.Lys351Arg) c.656A>G (p.Lys219Arg) c.773A>G (p.Lys258Arg) c.1031A>G (p.Lys344Arg) c.993+2878A>G (n.993+2878A>G) c.782+3524A>G (n.782+3524A>G) c.*159A>G (n.*159A>G) c.*71A>G (n.*71A>G) c.54-967A>G c.935A>G (p.Lys312Arg) c.1019A>G (p.Lys340Arg) c.575A>G (p.Lys192Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.7670657T>G | CA397832305 | TP53 | c.1052A>C (p.Lys351Thr) c.656A>C (p.Lys219Thr) c.773A>C (p.Lys258Thr) c.1031A>C (p.Lys344Thr) c.993+2878A>C (n.993+2878A>C) c.782+3524A>C (n.782+3524A>C) c.*159A>C (n.*159A>C) c.*71A>C (n.*71A>C) c.54-967A>C c.935A>C (p.Lys312Thr) c.1019A>C (p.Lys340Thr) c.575A>C (p.Lys192Thr) | |
| 17 | g.7670657T= | CA2245942648 | TP53 | c.1052A= (p.Lys351=) c.656A= (p.Lys219=) c.773A= (p.Lys258=) c.1031A= (p.Lys344=) c.993+2878A= (n.993+2878A=) c.782+3524A= (n.782+3524A=) c.*159A= (n.*159A=) c.*71A= (n.*71A=) c.54-967A= c.935A= (p.Lys312=) c.1019A= (p.Lys340=) c.575A= (p.Lys192=) | |
| 17 | g.7670658del | CA2499224950 | TP53 | c.1052del (p.Lys351ArgfsTer19) c.656del (p.Lys219ArgfsTer19) c.773del (p.Lys258ArgfsTer19) c.1031del (p.Lys344ArgfsTer19) c.993+2878del (n.993+2878del) c.782+3524del (n.782+3524del) c.*159del (n.*159del) c.*71del (n.*71del) c.54-967del c.935del (p.Lys312ArgfsTer19) c.1019del (p.Lys340ArgfsTer19) c.575del (p.Lys192ArgfsTer19) c.935del (p.Lys312ArgfsTer?) | ClinVar dbSNP |
| 17 | g.7670657_7670665delinsTTGAGTTCC | CA2245942644 | TP53 | c.1044_1052delinsGGAACTCAA (p.Leu348=) c.648_656delinsGGAACTCAA (p.Leu216=) c.765_773delinsGGAACTCAA (p.Leu255=) c.1023_1031delinsGGAACTCAA (p.Leu341=) c.993+2870_993+2878delinsGGAACTCAA (n.993+2870_993+2878delinsGGAACTCAA) c.782+3516_782+3524delinsGGAACTCAA (n.782+3516_782+3524delinsGGAACTCAA) c.*151_*159delinsGGAACTCAA (n.*151_*159delinsGGAACTCAA) c.*63_*71delinsGGAACTCAA (n.*63_*71delinsGGAACTCAA) c.54-975_54-967delinsGGAACTCAA c.927_935delinsGGAACTCAA (p.Leu309=) c.1011_1019delinsGGAACTCAA (p.Leu337=) c.567_575delinsGGAACTCAA (p.Leu189=) | |
| 17 | g.7670657_7670666delinsTTGAGTTCCA | CA2245942655 | TP53 | c.1043_1052delinsTGGAACTCAA (p.Leu348=) c.647_656delinsTGGAACTCAA (p.Leu216=) c.764_773delinsTGGAACTCAA (p.Leu255=) c.1022_1031delinsTGGAACTCAA (p.Leu341=) c.993+2869_993+2878delinsTGGAACTCAA (n.993+2869_993+2878delinsTGGAACTCAA) c.782+3515_782+3524delinsTGGAACTCAA (n.782+3515_782+3524delinsTGGAACTCAA) c.*150_*159delinsTGGAACTCAA (n.*150_*159delinsTGGAACTCAA) c.*62_*71delinsTGGAACTCAA (n.*62_*71delinsTGGAACTCAA) c.54-976_54-967delinsTGGAACTCAA c.926_935delinsTGGAACTCAA (p.Leu309=) c.1010_1019delinsTGGAACTCAA (p.Leu337=) c.566_575delinsTGGAACTCAA (p.Leu189=) | |
| 17 | g.7670658T>A | CA397832311 | TP53 | c.1051A>T (p.Lys351Ter) c.655A>T (p.Lys219Ter) c.772A>T (p.Lys258Ter) c.1030A>T (p.Lys344Ter) c.993+2877A>T (n.993+2877A>T) c.782+3523A>T (n.782+3523A>T) c.*158A>T (n.*158A>T) c.*70A>T (n.*70A>T) c.54-968A>T c.934A>T (p.Lys312Ter) c.1018A>T (p.Lys340Ter) c.574A>T (p.Lys192Ter) | ClinVar dbSNP COSMIC COSMIC |