Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.7669589_7676614delCA2499224945TP53c.-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
17g.7669609_7676594delCA2581463470TP53c.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
17g.7670616_7670715delCA645587290TP53c.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
17g.7670628_7670666delCA645587292TP53c.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
17g.7670642_7670677delCA645587293TP53c.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
17g.7670640_7670670delinsAAGGTCA645587294TP53c.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
17g.7670645_7670666delinsTGCCA2695200372TP53c.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
17g.7670648_7670666delCA645587295TP53c.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
17g.7670649G>ACA397832178TP53c.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
17g.7670649G>CCA397832179TP53c.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
17g.7670649G=CA2245942608TP53c.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=)
17g.7670649G>TCA000816TP53c.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
17g.7670650G>ACA497712535TP53c.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=)
17g.7670650G>CCA497712536TP53c.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
17g.7670650G>TCA497712538TP53c.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
17g.7670651_7670661delCA645587296TP53c.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
17g.7670651G>ACA397832186TP53c.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
17g.7670651G>CCA397832205TP53c.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
17g.7670651G>TCA397832209TP53c.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
17g.7670652C>ACA397832219TP53c.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
17g.7670652C>GCA397832220TP53c.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
17g.7670652C>TCA397832221TP53c.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
17g.7670653_7670671delCA645587297TP53c.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
17g.7670653A>CCA397832227TP53c.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
17g.7670653A>GCA497712540TP53c.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=)
17g.7670653A>TCA397832224TP53c.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
17g.7670653_7670654delinsTGCA10575448TP53c.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)
17g.7670654T>ACA397832231TP53c.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)
17g.7670654T>CCA397832234TP53c.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)
17g.7670654T>GCA397832238TP53c.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)
17g.7670654_7670663delCA2573154613TP53c.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
17g.7670655C>ACA397832246TP53c.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
17g.7670655C=CA2245942622TP53c.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=)
17g.7670655C>GCA397832249TP53c.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
17g.7670655C>TCA397832256TP53c.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
17g.7670656delCA2573154614TP53c.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
17g.7670655_7670667delCA2733133570TP53c.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
17g.7670658_7670672delCA2733133408TP53c.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
17g.7670656C>ACA397832268TP53c.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
17g.7670656C=CA2245942636TP53c.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=)
17g.7670656C>GCA397832273TP53c.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)
17g.7670656C>TCA497712543TP53c.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
17g.7670657T>ACA397832276TP53c.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
17g.7670657T>CCA397832291TP53c.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
17g.7670657T>GCA397832305TP53c.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)
17g.7670657T=CA2245942648TP53c.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=)
17g.7670658delCA2499224950TP53c.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
17g.7670657_7670665delinsTTGAGTTCCCA2245942644TP53c.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=)
17g.7670657_7670666delinsTTGAGTTCCACA2245942655TP53c.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=)
17g.7670658T>ACA397832311TP53c.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
17g.7670658T>CCA000023TP53c.1051A>G (p.Lys351Glu)
c.655A>G (p.Lys219Glu)
c.772A>G (p.Lys258Glu)
c.1030A>G (p.Lys344Glu)
c.993+2877A>G (n.993+2877A>G)
c.782+3523A>G (n.782+3523A>G)
c.*158A>G (n.*158A>G)
c.*70A>G (n.*70A>G)
c.54-968A>G
c.934A>G (p.Lys312Glu)
c.1018A>G (p.Lys340Glu)
c.574A>G (p.Lys192Glu)
ClinVar dbSNP COSMIC COSMIC
17g.7670658T>GCA397832315TP53c.1051A>C (p.Lys351Gln)
c.655A>C (p.Lys219Gln)
c.772A>C (p.Lys258Gln)
c.1030A>C (p.Lys344Gln)
c.993+2877A>C (n.993+2877A>C)
c.782+3523A>C (n.782+3523A>C)
c.*158A>C (n.*158A>C)
c.*70A>C (n.*70A>C)
c.54-968A>C
c.934A>C (p.Lys312Gln)
c.1018A>C (p.Lys340Gln)
c.574A>C (p.Lys192Gln)
17g.7670658T=CA2245942676TP53c.1051A= (p.Lys351=)
c.655A= (p.Lys219=)
c.772A= (p.Lys258=)
c.1030A= (p.Lys344=)
c.993+2877A= (n.993+2877A=)
c.782+3523A= (n.782+3523A=)
c.*158A= (n.*158A=)
c.*70A= (n.*70A=)
c.54-968A=
c.934A= (p.Lys312=)
c.1018A= (p.Lys340=)
c.574A= (p.Lys192=)
17g.7670658_7670660delinsTGACA2245942677TP53c.1049_1051delinsTCA (p.Leu350=)
c.653_655delinsTCA (p.Leu218=)
c.770_772delinsTCA (p.Leu257=)
c.1028_1030delinsTCA (p.Leu343=)
c.993+2875_993+2877delinsTCA (n.993+2875_993+2877delinsTCA)
c.782+3521_782+3523delinsTCA (n.782+3521_782+3523delinsTCA)
c.*156_*158delinsTCA (n.*156_*158delinsTCA)
c.*68_*70delinsTCA (n.*68_*70delinsTCA)
c.54-970_54-968delinsTCA
c.932_934delinsTCA (p.Leu311=)
c.1016_1018delinsTCA (p.Leu339=)
c.572_574delinsTCA (p.Leu191=)
17g.7670658_7670665delCA16603358TP53c.1044_1051del (p.Glu349GlyfsTer?)
c.648_655del (p.Glu217GlyfsTer?)
c.765_772del (p.Glu256GlyfsTer?)
c.1023_1030del (p.Glu342GlyfsTer?)
c.993+2870_993+2877del (n.993+2870_993+2877del)
c.782+3516_782+3523del (n.782+3516_782+3523del)
c.*151_*158del (n.*151_*158del)
c.*63_*70del (n.*63_*70del)
c.54-975_54-968del
c.927_934del (p.Glu310GlyfsTer?)
c.1011_1018del (p.Glu338GlyfsTer?)
c.567_574del (p.Glu190GlyfsTer?)
ClinVar dbSNP
17g.7670658_7670666delinsCCA891844038TP53c.1043_1051delinsG (p.Leu348Ter)
c.647_655delinsG (p.Leu216Ter)
c.764_772delinsG (p.Leu255Ter)
c.1022_1030delinsG (p.Leu341Ter)
c.993+2869_993+2877delinsG (n.993+2869_993+2877delinsG)
c.782+3515_782+3523delinsG (n.782+3515_782+3523delinsG)
c.*150_*158delinsG (n.*150_*158delinsG)
c.*62_*70delinsG (n.*62_*70delinsG)
c.54-976_54-968delinsG
c.926_934delinsG (p.Leu309Ter)
c.1010_1018delinsG (p.Leu337Ter)
c.566_574delinsG (p.Leu189Ter)
ClinVar dbSNP
17g.7670659delCA497712546TP53c.1050del (p.Lys351ArgfsTer19)
c.654del (p.Lys219ArgfsTer19)
c.771del (p.Lys258ArgfsTer19)
c.1029del (p.Lys344ArgfsTer19)
c.993+2876del (n.993+2876del)
c.782+3522del (n.782+3522del)
c.*157del (n.*157del)
c.*69del (n.*69del)
c.54-969del
c.933del (p.Lys312ArgfsTer19)
c.1017del (p.Lys340ArgfsTer19)
c.573del (p.Lys192ArgfsTer19)
c.933del (p.Lys312ArgfsTer?)
COSMIC
17g.7670659G>ACA497712545TP53c.1050C>T (p.Leu350=)
c.654C>T (p.Leu218=)
c.771C>T (p.Leu257=)
c.1029C>T (p.Leu343=)
c.993+2876C>T (n.993+2876C>T)
c.782+3522C>T (n.782+3522C>T)
c.*157C>T (n.*157C>T)
c.*69C>T (n.*69C>T)
c.54-969C>T
c.933C>T (p.Leu311=)
c.1017C>T (p.Leu339=)
c.573C>T (p.Leu191=)
ClinVar dbSNP
17g.7670659G>CCA497712547TP53c.1050C>G (p.Leu350=)
c.654C>G (p.Leu218=)
c.771C>G (p.Leu257=)
c.1029C>G (p.Leu343=)
c.993+2876C>G (n.993+2876C>G)
c.782+3522C>G (n.782+3522C>G)
c.*157C>G (n.*157C>G)
c.*69C>G (n.*69C>G)
c.54-969C>G
c.933C>G (p.Leu311=)
c.1017C>G (p.Leu339=)
c.573C>G (p.Leu191=)
dbSNP COSMIC COSMIC
17g.7670659G>TCA497712548TP53c.1050C>A (p.Leu350=)
c.654C>A (p.Leu218=)
c.771C>A (p.Leu257=)
c.1029C>A (p.Leu343=)
c.993+2876C>A (n.993+2876C>A)
c.782+3522C>A (n.782+3522C>A)
c.*157C>A (n.*157C>A)
c.*69C>A (n.*69C>A)
c.54-969C>A
c.933C>A (p.Leu311=)
c.1017C>A (p.Leu339=)
c.573C>A (p.Leu191=)
17g.7670660_7670661delCA645369694TP53c.1049_1050del (p.Leu350GlnfsTer?)
c.653_654del (p.Leu218GlnfsTer?)
c.770_771del (p.Leu257GlnfsTer?)
c.1028_1029del (p.Leu343GlnfsTer?)
c.993+2875_993+2876del (n.993+2875_993+2876del)
c.782+3521_782+3522del (n.782+3521_782+3522del)
c.*156_*157del (n.*156_*157del)
c.*68_*69del (n.*68_*69del)
c.54-970_54-969del
c.932_933del (p.Leu311GlnfsTer?)
c.1016_1017del (p.Leu339GlnfsTer?)
c.572_573del (p.Leu191GlnfsTer?)
ClinVar dbSNP
17g.7670660A>CCA397832335TP53c.1049T>G (p.Leu350Arg)
c.653T>G (p.Leu218Arg)
c.770T>G (p.Leu257Arg)
c.1028T>G (p.Leu343Arg)
c.993+2875T>G (n.993+2875T>G)
c.782+3521T>G (n.782+3521T>G)
c.*156T>G (n.*156T>G)
c.*68T>G (n.*68T>G)
c.54-970T>G
c.932T>G (p.Leu311Arg)
c.1016T>G (p.Leu339Arg)
c.572T>G (p.Leu191Arg)
17g.7670660A>GCA397832338TP53c.1049T>C (p.Leu350Pro)
c.653T>C (p.Leu218Pro)
c.770T>C (p.Leu257Pro)
c.1028T>C (p.Leu343Pro)
c.993+2875T>C (n.993+2875T>C)
c.782+3521T>C (n.782+3521T>C)
c.*156T>C (n.*156T>C)
c.*68T>C (n.*68T>C)
c.54-970T>C
c.932T>C (p.Leu311Pro)
c.1016T>C (p.Leu339Pro)
c.572T>C (p.Leu191Pro)
ClinVar dbSNP
17g.7670660A>TCA397832322TP53c.1049T>A (p.Leu350His)
c.653T>A (p.Leu218His)
c.770T>A (p.Leu257His)
c.1028T>A (p.Leu343His)
c.993+2875T>A (n.993+2875T>A)
c.782+3521T>A (n.782+3521T>A)
c.*156T>A (n.*156T>A)
c.*68T>A (n.*68T>A)
c.54-970T>A
c.932T>A (p.Leu311His)
c.1016T>A (p.Leu339His)
c.572T>A (p.Leu191His)
dbSNP
17g.7670661G>ACA397832343TP53c.1048C>T (p.Leu350Phe)
c.652C>T (p.Leu218Phe)
c.769C>T (p.Leu257Phe)
c.1027C>T (p.Leu343Phe)
c.993+2874C>T (n.993+2874C>T)
c.782+3520C>T (n.782+3520C>T)
c.*155C>T (n.*155C>T)
c.*67C>T (n.*67C>T)
c.54-971C>T
c.931C>T (p.Leu311Phe)
c.1015C>T (p.Leu339Phe)
c.571C>T (p.Leu191Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.7670661G>CCA000823TP53c.1048C>G (p.Leu350Val)
c.652C>G (p.Leu218Val)
c.769C>G (p.Leu257Val)
c.1027C>G (p.Leu343Val)
c.993+2874C>G (n.993+2874C>G)
c.782+3520C>G (n.782+3520C>G)
c.*155C>G (n.*155C>G)
c.*67C>G (n.*67C>G)
c.54-971C>G
c.931C>G (p.Leu311Val)
c.1015C>G (p.Leu339Val)
c.571C>G (p.Leu191Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7670661G=CA2245942705TP53c.1048C= (p.Leu350=)
c.652C= (p.Leu218=)
c.769C= (p.Leu257=)
c.1027C= (p.Leu343=)
c.993+2874C= (n.993+2874C=)
c.782+3520C= (n.782+3520C=)
c.*155C= (n.*155C=)
c.*67C= (n.*67C=)
c.54-971C=
c.931C= (p.Leu311=)
c.1015C= (p.Leu339=)
c.571C= (p.Leu191=)
17g.7670661G>TCA397832357TP53c.1048C>A (p.Leu350Ile)
c.652C>A (p.Leu218Ile)
c.769C>A (p.Leu257Ile)
c.1027C>A (p.Leu343Ile)
c.993+2874C>A (n.993+2874C>A)
c.782+3520C>A (n.782+3520C>A)
c.*155C>A (n.*155C>A)
c.*67C>A (n.*67C>A)
c.54-971C>A
c.931C>A (p.Leu311Ile)
c.1015C>A (p.Leu339Ile)
c.571C>A (p.Leu191Ile)
dbSNP
17g.7670662T>ACA397832360TP53c.1047A>T (p.Glu349Asp)
c.651A>T (p.Glu217Asp)
c.768A>T (p.Glu256Asp)
c.1026A>T (p.Glu342Asp)
c.993+2873A>T (n.993+2873A>T)
c.782+3519A>T (n.782+3519A>T)
c.*154A>T (n.*154A>T)
c.*66A>T (n.*66A>T)
c.54-972A>T
c.930A>T (p.Glu310Asp)
c.1014A>T (p.Glu338Asp)
c.570A>T (p.Glu190Asp)
dbSNP
17g.7670662T>CCA497712551TP53c.1047A>G (p.Glu349=)
c.651A>G (p.Glu217=)
c.768A>G (p.Glu256=)
c.1026A>G (p.Glu342=)
c.993+2873A>G (n.993+2873A>G)
c.782+3519A>G (n.782+3519A>G)
c.*154A>G (n.*154A>G)
c.*66A>G (n.*66A>G)
c.54-972A>G
c.930A>G (p.Glu310=)
c.1014A>G (p.Glu338=)
c.570A>G (p.Glu190=)
17g.7670662T>GCA397832362TP53c.1047A>C (p.Glu349Asp)
c.651A>C (p.Glu217Asp)
c.768A>C (p.Glu256Asp)
c.1026A>C (p.Glu342Asp)
c.993+2873A>C (n.993+2873A>C)
c.782+3519A>C (n.782+3519A>C)
c.*154A>C (n.*154A>C)
c.*66A>C (n.*66A>C)
c.54-972A>C
c.930A>C (p.Glu310Asp)
c.1014A>C (p.Glu338Asp)
c.570A>C (p.Glu190Asp)
dbSNP
17g.7670663T>ACA397832367TP53c.1046A>T (p.Glu349Val)
c.650A>T (p.Glu217Val)
c.767A>T (p.Glu256Val)
c.1025A>T (p.Glu342Val)
c.993+2872A>T (n.993+2872A>T)
c.782+3518A>T (n.782+3518A>T)
c.*153A>T (n.*153A>T)
c.*65A>T (n.*65A>T)
c.54-973A>T
c.929A>T (p.Glu310Val)
c.1013A>T (p.Glu338Val)
c.569A>T (p.Glu190Val)
17g.7670663T>CCA397832369TP53c.1046A>G (p.Glu349Gly)
c.650A>G (p.Glu217Gly)
c.767A>G (p.Glu256Gly)
c.1025A>G (p.Glu342Gly)
c.993+2872A>G (n.993+2872A>G)
c.782+3518A>G (n.782+3518A>G)
c.*153A>G (n.*153A>G)
c.*65A>G (n.*65A>G)
c.54-973A>G
c.929A>G (p.Glu310Gly)
c.1013A>G (p.Glu338Gly)
c.569A>G (p.Glu190Gly)
ClinVar
17g.7670663T>GCA397832373TP53c.1046A>C (p.Glu349Ala)
c.650A>C (p.Glu217Ala)
c.767A>C (p.Glu256Ala)
c.1025A>C (p.Glu342Ala)
c.993+2872A>C (n.993+2872A>C)
c.782+3518A>C (n.782+3518A>C)
c.*153A>C (n.*153A>C)
c.*65A>C (n.*65A>C)
c.54-973A>C
c.929A>C (p.Glu310Ala)
c.1013A>C (p.Glu338Ala)
c.569A>C (p.Glu190Ala)
17g.7670664C>ACA397832377TP53c.1045G>T (p.Glu349Ter)
c.649G>T (p.Glu217Ter)
c.766G>T (p.Glu256Ter)
c.1024G>T (p.Glu342Ter)
c.993+2871G>T (n.993+2871G>T)
c.782+3517G>T (n.782+3517G>T)
c.*152G>T (n.*152G>T)
c.*64G>T (n.*64G>T)
c.54-974G>T
c.928G>T (p.Glu310Ter)
c.1012G>T (p.Glu338Ter)
c.568G>T (p.Glu190Ter)
ClinVar dbSNP COSMIC COSMIC
17g.7670664C=CA2245942730TP53c.1045G= (p.Glu349=)
c.649G= (p.Glu217=)
c.766G= (p.Glu256=)
c.1024G= (p.Glu342=)
c.993+2871G= (n.993+2871G=)
c.782+3517G= (n.782+3517G=)
c.*152G= (n.*152G=)
c.*64G= (n.*64G=)
c.54-974G=
c.928G= (p.Glu310=)
c.1012G= (p.Glu338=)
c.568G= (p.Glu190=)
17g.7670664C>GCA397832378TP53c.1045G>C (p.Glu349Gln)
c.649G>C (p.Glu217Gln)
c.766G>C (p.Glu256Gln)
c.1024G>C (p.Glu342Gln)
c.993+2871G>C (n.993+2871G>C)
c.782+3517G>C (n.782+3517G>C)
c.*152G>C (n.*152G>C)
c.*64G>C (n.*64G>C)
c.54-974G>C
c.928G>C (p.Glu310Gln)
c.1012G>C (p.Glu338Gln)
c.568G>C (p.Glu190Gln)
ClinVar dbSNP gnomAD v4
17g.7670664C>TCA397832380TP53c.1045G>A (p.Glu349Lys)
c.649G>A (p.Glu217Lys)
c.766G>A (p.Glu256Lys)
c.1024G>A (p.Glu342Lys)
c.993+2871G>A (n.993+2871G>A)
c.782+3517G>A (n.782+3517G>A)
c.*152G>A (n.*152G>A)
c.*64G>A (n.*64G>A)
c.54-974G>A
c.928G>A (p.Glu310Lys)
c.1012G>A (p.Glu338Lys)
c.568G>A (p.Glu190Lys)
ClinVar dbSNP
17g.7670665delCA497712556TP53c.1045del (p.Glu349AsnfsTer21)
c.649del (p.Glu217AsnfsTer21)
c.766del (p.Glu256AsnfsTer21)
c.1024del (p.Glu342AsnfsTer21)
c.993+2871del (n.993+2871del)
c.782+3517del (n.782+3517del)
c.*152del (n.*152del)
c.*64del (n.*64del)
c.54-974del
c.928del (p.Glu310AsnfsTer21)
c.1012del (p.Glu338AsnfsTer21)
c.568del (p.Glu190AsnfsTer21)
c.928del (p.Glu310AsnfsTer?)
dbSNP COSMIC COSMIC
17g.7670665C>ACA397832382TP53c.1044G>T (p.Leu348Phe)
c.648G>T (p.Leu216Phe)
c.765G>T (p.Leu255Phe)
c.1023G>T (p.Leu341Phe)
c.993+2870G>T (n.993+2870G>T)
c.782+3516G>T (n.782+3516G>T)
c.*151G>T (n.*151G>T)
c.*63G>T (n.*63G>T)
c.54-975G>T
c.927G>T (p.Leu309Phe)
c.1011G>T (p.Leu337Phe)
c.567G>T (p.Leu189Phe)
dbSNP COSMIC COSMIC
17g.7670665C>GCA397832388TP53c.1044G>C (p.Leu348Phe)
c.648G>C (p.Leu216Phe)
c.765G>C (p.Leu255Phe)
c.1023G>C (p.Leu341Phe)
c.993+2870G>C (n.993+2870G>C)
c.782+3516G>C (n.782+3516G>C)
c.*151G>C (n.*151G>C)
c.*63G>C (n.*63G>C)
c.54-975G>C
c.927G>C (p.Leu309Phe)
c.1011G>C (p.Leu337Phe)
c.567G>C (p.Leu189Phe)
17g.7670665C>TCA497712558TP53c.1044G>A (p.Leu348=)
c.648G>A (p.Leu216=)
c.765G>A (p.Leu255=)
c.1023G>A (p.Leu341=)
c.993+2870G>A (n.993+2870G>A)
c.782+3516G>A (n.782+3516G>A)
c.*151G>A (n.*151G>A)
c.*63G>A (n.*63G>A)
c.54-975G>A
c.927G>A (p.Leu309=)
c.1011G>A (p.Leu337=)
c.567G>A (p.Leu189=)
ClinVar dbSNP
17g.7670666A>CCA397832394TP53c.1043T>G (p.Leu348Trp)
c.647T>G (p.Leu216Trp)
c.764T>G (p.Leu255Trp)
c.1022T>G (p.Leu341Trp)
c.993+2869T>G (n.993+2869T>G)
c.782+3515T>G (n.782+3515T>G)
c.*150T>G (n.*150T>G)
c.*62T>G (n.*62T>G)
c.54-976T>G
c.926T>G (p.Leu309Trp)
c.1010T>G (p.Leu337Trp)
c.566T>G (p.Leu189Trp)
COSMIC COSMIC
17g.7670666A>GCA397832401TP53c.1043T>C (p.Leu348Ser)
c.647T>C (p.Leu216Ser)
c.764T>C (p.Leu255Ser)
c.1022T>C (p.Leu341Ser)
c.993+2869T>C (n.993+2869T>C)
c.782+3515T>C (n.782+3515T>C)
c.*150T>C (n.*150T>C)
c.*62T>C (n.*62T>C)
c.54-976T>C
c.926T>C (p.Leu309Ser)
c.1010T>C (p.Leu337Ser)
c.566T>C (p.Leu189Ser)
ClinVar dbSNP
17g.7670666A>TCA397832404TP53c.1043T>A (p.Leu348Ter)
c.647T>A (p.Leu216Ter)
c.764T>A (p.Leu255Ter)
c.1022T>A (p.Leu341Ter)
c.993+2869T>A (n.993+2869T>A)
c.782+3515T>A (n.782+3515T>A)
c.*150T>A (n.*150T>A)
c.*62T>A (n.*62T>A)
c.54-976T>A
c.926T>A (p.Leu309Ter)
c.1010T>A (p.Leu337Ter)
c.566T>A (p.Leu189Ter)
dbSNP COSMIC COSMIC
17g.7670667delCA2499224951TP53c.1043del (p.Leu348TrpfsTer22)
c.647del (p.Leu216TrpfsTer22)
c.764del (p.Leu255TrpfsTer22)
c.1022del (p.Leu341TrpfsTer22)
c.993+2869del (n.993+2869del)
c.782+3515del (n.782+3515del)
c.*150del (n.*150del)
c.*62del (n.*62del)
c.54-976del
c.926del (p.Leu309TrpfsTer22)
c.1010del (p.Leu337TrpfsTer22)
c.566del (p.Leu189TrpfsTer22)
c.926del (p.Leu309TrpfsTer?)
ClinVar dbSNP
17g.7670667A=CA2245942743TP53c.1042T= (p.Leu348=)
c.646T= (p.Leu216=)
c.763T= (p.Leu255=)
c.1021T= (p.Leu341=)
c.993+2868T= (n.993+2868T=)
c.782+3514T= (n.782+3514T=)
c.*149T= (n.*149T=)
c.*61T= (n.*61T=)
c.54-977T=
c.925T= (p.Leu309=)
c.1009T= (p.Leu337=)
c.565T= (p.Leu189=)
17g.7670667A>CCA16615934TP53c.1042T>G (p.Leu348Val)
c.646T>G (p.Leu216Val)
c.763T>G (p.Leu255Val)
c.1021T>G (p.Leu341Val)
c.993+2868T>G (n.993+2868T>G)
c.782+3514T>G (n.782+3514T>G)
c.*149T>G (n.*149T>G)
c.*61T>G (n.*61T>G)
c.54-977T>G
c.925T>G (p.Leu309Val)
c.1009T>G (p.Leu337Val)
c.565T>G (p.Leu189Val)
ClinVar dbSNP
17g.7670667A>GCA497712561TP53c.1042T>C (p.Leu348=)
c.646T>C (p.Leu216=)
c.763T>C (p.Leu255=)
c.1021T>C (p.Leu341=)
c.993+2868T>C (n.993+2868T>C)
c.782+3514T>C (n.782+3514T>C)
c.*149T>C (n.*149T>C)
c.*61T>C (n.*61T>C)
c.54-977T>C
c.925T>C (p.Leu309=)
c.1009T>C (p.Leu337=)
c.565T>C (p.Leu189=)
17g.7670667A>TCA397832417TP53c.1042T>A (p.Leu348Met)
c.646T>A (p.Leu216Met)
c.763T>A (p.Leu255Met)
c.1021T>A (p.Leu341Met)
c.993+2868T>A (n.993+2868T>A)
c.782+3514T>A (n.782+3514T>A)
c.*149T>A (n.*149T>A)
c.*61T>A (n.*61T>A)
c.54-977T>A
c.925T>A (p.Leu309Met)
c.1009T>A (p.Leu337Met)
c.565T>A (p.Leu189Met)
dbSNP
17g.7670672_7670673insTAGGCCTCA645587299TP53c.1042_1043insAAGGCCT (p.Leu348Ter)
c.646_647insAAGGCCT (p.Leu216Ter)
c.763_764insAAGGCCT (p.Leu255Ter)
c.1021_1022insAAGGCCT (p.Leu341Ter)
c.993+2868_993+2869insAAGGCCT (n.993+2868_993+2869insAAGGCCT)
c.782+3514_782+3515insAAGGCCT (n.782+3514_782+3515insAAGGCCT)
c.*149_*150insAAGGCCT (n.*149_*150insAAGGCCT)
c.*61_*62insAAGGCCT (n.*61_*62insAAGGCCT)
c.54-977_54-976insAAGGCCT
c.925_926insAAGGCCT (p.Leu309Ter)
c.1009_1010insAAGGCCT (p.Leu337Ter)
c.565_566insAAGGCCT (p.Leu189Ter)
COSMIC
17g.7670667_7670679delCA645587298TP53c.1030_1042del (p.Leu344TrpfsTer22)
c.634_646del (p.Leu212TrpfsTer22)
c.751_763del (p.Leu251TrpfsTer22)
c.1009_1021del (p.Leu337TrpfsTer22)
c.993+2856_993+2868del (n.993+2856_993+2868del)
c.782+3502_782+3514del (n.782+3502_782+3514del)
c.*137_*149del (n.*137_*149del)
c.*49_*61del (n.*49_*61del)
c.54-989_54-977del
c.913_925del (p.Leu305TrpfsTer22)
c.997_1009del (p.Leu333TrpfsTer22)
c.553_565del (p.Leu185TrpfsTer22)
c.913_925del (p.Leu305TrpfsTer?)
COSMIC
17g.7670668G>ACA497712567TP53c.1041C>T (p.Ala347=)
c.645C>T (p.Ala215=)
c.762C>T (p.Ala254=)
c.1020C>T (p.Ala340=)
c.993+2867C>T (n.993+2867C>T)
c.782+3513C>T (n.782+3513C>T)
c.*148C>T (n.*148C>T)
c.*60C>T (n.*60C>T)
c.54-978C>T
c.924C>T (p.Ala308=)
c.1008C>T (p.Ala336=)
c.564C>T (p.Ala188=)
ClinVar dbSNP gnomAD v2
17g.7670668G>CCA497712566TP53c.1041C>G (p.Ala347=)
c.645C>G (p.Ala215=)
c.762C>G (p.Ala254=)
c.1020C>G (p.Ala340=)
c.993+2867C>G (n.993+2867C>G)
c.782+3513C>G (n.782+3513C>G)
c.*148C>G (n.*148C>G)
c.*60C>G (n.*60C>G)
c.54-978C>G
c.924C>G (p.Ala308=)
c.1008C>G (p.Ala336=)
c.564C>G (p.Ala188=)
ClinVar dbSNP
17g.7670668G=CA2245942752TP53c.1041C= (p.Ala347=)
c.645C= (p.Ala215=)
c.762C= (p.Ala254=)
c.1020C= (p.Ala340=)
c.993+2867C= (n.993+2867C=)
c.782+3513C= (n.782+3513C=)
c.*148C= (n.*148C=)
c.*60C= (n.*60C=)
c.54-978C=
c.924C= (p.Ala308=)
c.1008C= (p.Ala336=)
c.564C= (p.Ala188=)
17g.7670668G>TCA497712568TP53c.1041C>A (p.Ala347=)
c.645C>A (p.Ala215=)
c.762C>A (p.Ala254=)
c.1020C>A (p.Ala340=)
c.993+2867C>A (n.993+2867C>A)
c.782+3513C>A (n.782+3513C>A)
c.*148C>A (n.*148C>A)
c.*60C>A (n.*60C>A)
c.54-978C>A
c.924C>A (p.Ala308=)
c.1008C>A (p.Ala336=)
c.564C>A (p.Ala188=)
dbSNP
17g.7670669delCA497712564TP53c.1041del (p.Leu348TrpfsTer22)
c.645del (p.Leu216TrpfsTer22)
c.762del (p.Leu255TrpfsTer22)
c.1020del (p.Leu341TrpfsTer22)
c.993+2867del (n.993+2867del)
c.782+3513del (n.782+3513del)
c.*148del (n.*148del)
c.*60del (n.*60del)
c.54-978del
c.924del (p.Leu309TrpfsTer22)
c.1008del (p.Leu337TrpfsTer22)
c.564del (p.Leu189TrpfsTer22)
c.924del (p.Leu309TrpfsTer?)
COSMIC
17g.7670669G>ACA16620609TP53c.1040C>T (p.Ala347Val)
c.644C>T (p.Ala215Val)
c.761C>T (p.Ala254Val)
c.1019C>T (p.Ala340Val)
c.993+2866C>T (n.993+2866C>T)
c.782+3512C>T (n.782+3512C>T)
c.*147C>T (n.*147C>T)
c.*59C>T (n.*59C>T)
c.54-979C>T
c.923C>T (p.Ala308Val)
c.1007C>T (p.Ala336Val)
c.563C>T (p.Ala188Val)
ClinVar dbSNP
17g.7670669G>CCA397832423TP53c.1040C>G (p.Ala347Gly)
c.644C>G (p.Ala215Gly)
c.761C>G (p.Ala254Gly)
c.1019C>G (p.Ala340Gly)
c.993+2866C>G (n.993+2866C>G)
c.782+3512C>G (n.782+3512C>G)
c.*147C>G (n.*147C>G)
c.*59C>G (n.*59C>G)
c.54-979C>G
c.923C>G (p.Ala308Gly)
c.1007C>G (p.Ala336Gly)
c.563C>G (p.Ala188Gly)
ClinVar dbSNP COSMIC
17g.7670669G=CA2245942767TP53c.1040C= (p.Ala347=)
c.644C= (p.Ala215=)
c.761C= (p.Ala254=)
c.1019C= (p.Ala340=)
c.993+2866C= (n.993+2866C=)
c.782+3512C= (n.782+3512C=)
c.*147C= (n.*147C=)
c.*59C= (n.*59C=)
c.54-979C=
c.923C= (p.Ala308=)
c.1007C= (p.Ala336=)
c.563C= (p.Ala188=)
17g.7670669G>TCA000022TP53c.1040C>A (p.Ala347Asp)
c.644C>A (p.Ala215Asp)
c.761C>A (p.Ala254Asp)
c.1019C>A (p.Ala340Asp)
c.993+2866C>A (n.993+2866C>A)
c.782+3512C>A (n.782+3512C>A)
c.*147C>A (n.*147C>A)
c.*59C>A (n.*59C>A)
c.54-979C>A
c.923C>A (p.Ala308Asp)
c.1007C>A (p.Ala336Asp)
c.563C>A (p.Ala188Asp)
ClinVar dbSNP
17g.7670669_7670670delinsAACA2580094845TP53c.1039_1040delinsTT (p.Ala347Phe)
c.643_644delinsTT (p.Ala215Phe)
c.760_761delinsTT (p.Ala254Phe)
c.1018_1019delinsTT (p.Ala340Phe)
c.993+2865_993+2866delinsTT (n.993+2865_993+2866delinsTT)
c.782+3511_782+3512delinsTT (n.782+3511_782+3512delinsTT)
c.*146_*147delinsTT (n.*146_*147delinsTT)
c.*58_*59delinsTT (n.*58_*59delinsTT)
c.54-980_54-979delinsTT
c.922_923delinsTT (p.Ala308Phe)
c.1006_1007delinsTT (p.Ala336Phe)
c.562_563delinsTT (p.Ala188Phe)
ClinVar
17g.7670669_7670671delCA2695224215TP53c.1038_1040del (p.Glu346_Ala347delinsAsp)
c.642_644del (p.Glu214_Ala215delinsAsp)
c.759_761del (p.Glu253_Ala254delinsAsp)
c.1017_1019del (p.Glu339_Ala340delinsAsp)
c.993+2864_993+2866del (n.993+2864_993+2866del)
c.782+3510_782+3512del (n.782+3510_782+3512del)
c.*145_*147del (n.*145_*147del)
c.*57_*59del (n.*57_*59del)
c.54-981_54-979del
c.921_923del (p.Glu307_Ala308delinsAsp)
c.1005_1007del (p.Glu335_Ala336delinsAsp)
c.561_563del (p.Glu187_Ala188delinsAsp)
17g.7670671_7670680delCA645587300TP53c.1031_1040del (p.Leu344ProfsTer23)
c.635_644del (p.Leu212ProfsTer23)
c.752_761del (p.Leu251ProfsTer23)
c.1010_1019del (p.Leu337ProfsTer23)
c.993+2857_993+2866del (n.993+2857_993+2866del)
c.782+3503_782+3512del (n.782+3503_782+3512del)
c.*138_*147del (n.*138_*147del)
c.*50_*59del (n.*50_*59del)
c.54-988_54-979del
c.914_923del (p.Leu305ProfsTer23)
c.998_1007del (p.Leu333ProfsTer23)
c.554_563del (p.Leu185ProfsTer23)
c.914_923del (p.Leu305ProfsTer?)
COSMIC COSMIC
17g.7670670C>ACA397832426TP53c.1039G>T (p.Ala347Ser)
c.643G>T (p.Ala215Ser)
c.760G>T (p.Ala254Ser)
c.1018G>T (p.Ala340Ser)
c.993+2865G>T (n.993+2865G>T)
c.782+3511G>T (n.782+3511G>T)
c.*146G>T (n.*146G>T)
c.*58G>T (n.*58G>T)
c.54-980G>T
c.922G>T (p.Ala308Ser)
c.1006G>T (p.Ala336Ser)
c.562G>T (p.Ala188Ser)
ClinVar dbSNP
17g.7670670C=CA2245942772TP53c.1039G= (p.Ala347=)
c.643G= (p.Ala215=)
c.760G= (p.Ala254=)
c.1018G= (p.Ala340=)
c.993+2865G= (n.993+2865G=)
c.782+3511G= (n.782+3511G=)
c.*146G= (n.*146G=)
c.*58G= (n.*58G=)
c.54-980G=
c.922G= (p.Ala308=)
c.1006G= (p.Ala336=)
c.562G= (p.Ala188=)
17g.7670670C>GCA397832440TP53c.1039G>C (p.Ala347Pro)
c.643G>C (p.Ala215Pro)
c.760G>C (p.Ala254Pro)
c.1018G>C (p.Ala340Pro)
c.993+2865G>C (n.993+2865G>C)
c.782+3511G>C (n.782+3511G>C)
c.*146G>C (n.*146G>C)
c.*58G>C (n.*58G>C)
c.54-980G>C
c.922G>C (p.Ala308Pro)
c.1006G>C (p.Ala336Pro)
c.562G>C (p.Ala188Pro)
dbSNP
17g.7670670C>TCA397832443TP53c.1039G>A (p.Ala347Thr)
c.643G>A (p.Ala215Thr)
c.760G>A (p.Ala254Thr)
c.1018G>A (p.Ala340Thr)
c.993+2865G>A (n.993+2865G>A)
c.782+3511G>A (n.782+3511G>A)
c.*146G>A (n.*146G>A)
c.*58G>A (n.*58G>A)
c.54-980G>A
c.922G>A (p.Ala308Thr)
c.1006G>A (p.Ala336Thr)
c.562G>A (p.Ala188Thr)
ClinVar dbSNP COSMIC COSMIC
17g.7670671delCA1139768343TP53c.1039del (p.Ala347ProfsTer23)
c.643del (p.Ala215ProfsTer23)
c.760del (p.Ala254ProfsTer23)
c.1018del (p.Ala340ProfsTer23)
c.993+2865del (n.993+2865del)
c.782+3511del (n.782+3511del)
c.*146del (n.*146del)
c.*58del (n.*58del)
c.54-980del
c.922del (p.Ala308ProfsTer23)
c.1006del (p.Ala336ProfsTer23)
c.562del (p.Ala188ProfsTer23)
c.922del (p.Ala308ProfsTer?)
ClinVar
17g.7670671C>ACA397832446TP53c.1038G>T (p.Glu346Asp)
c.642G>T (p.Glu214Asp)
c.759G>T (p.Glu253Asp)
c.1017G>T (p.Glu339Asp)
c.993+2864G>T (n.993+2864G>T)
c.782+3510G>T (n.782+3510G>T)
c.*145G>T (n.*145G>T)
c.*57G>T (n.*57G>T)
c.54-981G>T
c.921G>T (p.Glu307Asp)
c.1005G>T (p.Glu335Asp)
c.561G>T (p.Glu187Asp)
dbSNP
17g.7670671C=CA2245942783TP53c.1038G= (p.Glu346=)
c.642G= (p.Glu214=)
c.759G= (p.Glu253=)
c.1017G= (p.Glu339=)
c.993+2864G= (n.993+2864G=)
c.782+3510G= (n.782+3510G=)
c.*145G= (n.*145G=)
c.*57G= (n.*57G=)
c.54-981G=
c.921G= (p.Glu307=)
c.1005G= (p.Glu335=)
c.561G= (p.Glu187=)
17g.7670671C>GCA397832451TP53c.1038G>C (p.Glu346Asp)
c.642G>C (p.Glu214Asp)
c.759G>C (p.Glu253Asp)
c.1017G>C (p.Glu339Asp)
c.993+2864G>C (n.993+2864G>C)
c.782+3510G>C (n.782+3510G>C)
c.*145G>C (n.*145G>C)
c.*57G>C (n.*57G>C)
c.54-981G>C
c.921G>C (p.Glu307Asp)
c.1005G>C (p.Glu335Asp)
c.561G>C (p.Glu187Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7670671C>TCA497712572TP53c.1038G>A (p.Glu346=)
c.642G>A (p.Glu214=)
c.759G>A (p.Glu253=)
c.1017G>A (p.Glu339=)
c.993+2864G>A (n.993+2864G>A)
c.782+3510G>A (n.782+3510G>A)
c.*145G>A (n.*145G>A)
c.*57G>A (n.*57G>A)
c.54-981G>A
c.921G>A (p.Glu307=)
c.1005G>A (p.Glu335=)
c.561G>A (p.Glu187=)
ClinVar dbSNP
17g.7670672T>ACA397832452TP53c.1037A>T (p.Glu346Val)
c.641A>T (p.Glu214Val)
c.758A>T (p.Glu253Val)
c.1016A>T (p.Glu339Val)
c.993+2863A>T (n.993+2863A>T)
c.782+3509A>T (n.782+3509A>T)
c.*144A>T (n.*144A>T)
c.*56A>T (n.*56A>T)
c.54-982A>T
c.920A>T (p.Glu307Val)
c.1004A>T (p.Glu335Val)
c.560A>T (p.Glu187Val)
dbSNP
17g.7670672T>CCA397832453TP53c.1037A>G (p.Glu346Gly)
c.641A>G (p.Glu214Gly)
c.758A>G (p.Glu253Gly)
c.1016A>G (p.Glu339Gly)
c.993+2863A>G (n.993+2863A>G)
c.782+3509A>G (n.782+3509A>G)
c.*144A>G (n.*144A>G)
c.*56A>G (n.*56A>G)
c.54-982A>G
c.920A>G (p.Glu307Gly)
c.1004A>G (p.Glu335Gly)
c.560A>G (p.Glu187Gly)
ClinVar dbSNP gnomAD v4
17g.7670672T>GCA397832454TP53c.1037A>C (p.Glu346Ala)
c.641A>C (p.Glu214Ala)
c.758A>C (p.Glu253Ala)
c.1016A>C (p.Glu339Ala)
c.993+2863A>C (n.993+2863A>C)
c.782+3509A>C (n.782+3509A>C)
c.*144A>C (n.*144A>C)
c.*56A>C (n.*56A>C)
c.54-982A>C
c.920A>C (p.Glu307Ala)
c.1004A>C (p.Glu335Ala)
c.560A>C (p.Glu187Ala)
COSMIC
17g.7670672_7670673delinsTCCA2245942796TP53c.1036_1037delinsGA (p.Glu346=)
c.640_641delinsGA (p.Glu214=)
c.757_758delinsGA (p.Glu253=)
c.1015_1016delinsGA (p.Glu339=)
c.993+2862_993+2863delinsGA (n.993+2862_993+2863delinsGA)
c.782+3508_782+3509delinsGA (n.782+3508_782+3509delinsGA)
c.*143_*144delinsGA (n.*143_*144delinsGA)
c.*55_*56delinsGA (n.*55_*56delinsGA)
c.54-983_54-982delinsGA
c.919_920delinsGA (p.Glu307=)
c.1003_1004delinsGA (p.Glu335=)
c.559_560delinsGA (p.Glu187=)
17g.7670673delCA913190570TP53c.1036del (p.Glu346ArgfsTer24)
c.640del (p.Glu214ArgfsTer24)
c.757del (p.Glu253ArgfsTer24)
c.1015del (p.Glu339ArgfsTer24)
c.993+2862del (n.993+2862del)
c.782+3508del (n.782+3508del)
c.*143del (n.*143del)
c.*55del (n.*55del)
c.54-983del
c.919del (p.Glu307ArgfsTer24)
c.1003del (p.Glu335ArgfsTer24)
c.559del (p.Glu187ArgfsTer24)
c.919del (p.Glu307ArgfsTer?)
ClinVar dbSNP
17g.7670673C>ACA397832461TP53c.1036G>T (p.Glu346Ter)
c.640G>T (p.Glu214Ter)
c.757G>T (p.Glu253Ter)
c.1015G>T (p.Glu339Ter)
c.993+2862G>T (n.993+2862G>T)
c.782+3508G>T (n.782+3508G>T)
c.*143G>T (n.*143G>T)
c.*55G>T (n.*55G>T)
c.54-983G>T
c.919G>T (p.Glu307Ter)
c.1003G>T (p.Glu335Ter)
c.559G>T (p.Glu187Ter)
ClinVar dbSNP COSMIC COSMIC
17g.7670673C=CA2245942812TP53c.1036G= (p.Glu346=)
c.640G= (p.Glu214=)
c.757G= (p.Glu253=)
c.1015G= (p.Glu339=)
c.993+2862G= (n.993+2862G=)
c.782+3508G= (n.782+3508G=)
c.*143G= (n.*143G=)
c.*55G= (n.*55G=)
c.54-983G=
c.919G= (p.Glu307=)
c.1003G= (p.Glu335=)
c.559G= (p.Glu187=)
17g.7670673C>GCA397832457TP53c.1036G>C (p.Glu346Gln)
c.640G>C (p.Glu214Gln)
c.757G>C (p.Glu253Gln)
c.1015G>C (p.Glu339Gln)
c.993+2862G>C (n.993+2862G>C)
c.782+3508G>C (n.782+3508G>C)
c.*143G>C (n.*143G>C)
c.*55G>C (n.*55G>C)
c.54-983G>C
c.919G>C (p.Glu307Gln)
c.1003G>C (p.Glu335Gln)
c.559G>C (p.Glu187Gln)
dbSNP
17g.7670673C>TCA397832455TP53c.1036G>A (p.Glu346Lys)
c.640G>A (p.Glu214Lys)
c.757G>A (p.Glu253Lys)
c.1015G>A (p.Glu339Lys)
c.993+2862G>A (n.993+2862G>A)
c.782+3508G>A (n.782+3508G>A)
c.*143G>A (n.*143G>A)
c.*55G>A (n.*55G>A)
c.54-983G>A
c.919G>A (p.Glu307Lys)
c.1003G>A (p.Glu335Lys)
c.559G>A (p.Glu187Lys)
ClinVar dbSNP gnomAD v4
17g.7670674A>CCA397832471TP53c.1035T>G (p.Asn345Lys)
c.639T>G (p.Asn213Lys)
c.756T>G (p.Asn252Lys)
c.1014T>G (p.Asn338Lys)
c.993+2861T>G (n.993+2861T>G)
c.782+3507T>G (n.782+3507T>G)
c.*142T>G (n.*142T>G)
c.*54T>G (n.*54T>G)
c.54-984T>G
c.918T>G (p.Asn306Lys)
c.1002T>G (p.Asn334Lys)
c.558T>G (p.Asn186Lys)
17g.7670674A>GCA497712579TP53c.1035T>C (p.Asn345=)
c.639T>C (p.Asn213=)
c.756T>C (p.Asn252=)
c.1014T>C (p.Asn338=)
c.993+2861T>C (n.993+2861T>C)
c.782+3507T>C (n.782+3507T>C)
c.*142T>C (n.*142T>C)
c.*54T>C (n.*54T>C)
c.54-984T>C
c.918T>C (p.Asn306=)
c.1002T>C (p.Asn334=)
c.558T>C (p.Asn186=)
gnomAD v4
17g.7670674A>TCA397832473TP53c.1035T>A (p.Asn345Lys)
c.639T>A (p.Asn213Lys)
c.756T>A (p.Asn252Lys)
c.1014T>A (p.Asn338Lys)
c.993+2861T>A (n.993+2861T>A)
c.782+3507T>A (n.782+3507T>A)
c.*142T>A (n.*142T>A)
c.*54T>A (n.*54T>A)
c.54-984T>A
c.918T>A (p.Asn306Lys)
c.1002T>A (p.Asn334Lys)
c.558T>A (p.Asn186Lys)
dbSNP
17g.7670674_7670682delinsATTCAGCTCCA2245942816TP53c.1027_1035delinsGAGCTGAAT (p.Glu343=)
c.631_639delinsGAGCTGAAT (p.Glu211=)
c.748_756delinsGAGCTGAAT (p.Glu250=)
c.1006_1014delinsGAGCTGAAT (p.Glu336=)
c.993+2853_993+2861delinsGAGCTGAAT (n.993+2853_993+2861delinsGAGCTGAAT)
c.782+3499_782+3507delinsGAGCTGAAT (n.782+3499_782+3507delinsGAGCTGAAT)
c.*134_*142delinsGAGCTGAAT (n.*134_*142delinsGAGCTGAAT)
c.*46_*54delinsGAGCTGAAT (n.*46_*54delinsGAGCTGAAT)
c.54-992_54-984delinsGAGCTGAAT
c.910_918delinsGAGCTGAAT (p.Glu304=)
c.994_1002delinsGAGCTGAAT (p.Glu332=)
c.550_558delinsGAGCTGAAT (p.Glu184=)
17g.7670674_7670685delCA645587301TP53c.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
17g.7670675T>ACA397832480TP53c.1034A>T (p.Asn345Ile)
c.638A>T (p.Asn213Ile)
c.755A>T (p.Asn252Ile)
c.1013A>T (p.Asn338Ile)
c.993+2860A>T (n.993+2860A>T)
c.782+3506A>T (n.782+3506A>T)
c.*141A>T (n.*141A>T)
c.*53A>T (n.*53A>T)
c.54-985A>T
c.917A>T (p.Asn306Ile)
c.1001A>T (p.Asn334Ile)
c.557A>T (p.Asn186Ile)
COSMIC COSMIC
17g.7670675T>CCA397832487TP53c.1034A>G (p.Asn345Ser)
c.638A>G (p.Asn213Ser)
c.755A>G (p.Asn252Ser)
c.1013A>G (p.Asn338Ser)
c.993+2860A>G (n.993+2860A>G)
c.782+3506A>G (n.782+3506A>G)
c.*141A>G (n.*141A>G)
c.*53A>G (n.*53A>G)
c.54-985A>G
c.917A>G (p.Asn306Ser)
c.1001A>G (p.Asn334Ser)
c.557A>G (p.Asn186Ser)
17g.7670675T>GCA397832489TP53c.1034A>C (p.Asn345Thr)
c.638A>C (p.Asn213Thr)
c.755A>C (p.Asn252Thr)
c.1013A>C (p.Asn338Thr)
c.993+2860A>C (n.993+2860A>C)
c.782+3506A>C (n.782+3506A>C)
c.*141A>C (n.*141A>C)
c.*53A>C (n.*53A>C)
c.54-985A>C
c.917A>C (p.Asn306Thr)
c.1001A>C (p.Asn334Thr)
c.557A>C (p.Asn186Thr)
17g.7670676delCA497712584TP53c.1034del (p.Asn345MetfsTer25)
c.638del (p.Asn213MetfsTer25)
c.755del (p.Asn252MetfsTer25)
c.1013del (p.Asn338MetfsTer25)
c.993+2860del (n.993+2860del)
c.782+3506del (n.782+3506del)
c.*141del (n.*141del)
c.*53del (n.*53del)
c.54-985del
c.917del (p.Asn306MetfsTer25)
c.1001del (p.Asn334MetfsTer25)
c.557del (p.Asn186MetfsTer25)
c.917del (p.Asn306MetfsTer?)
COSMIC
17g.7670676_7670683delCA913190571TP53c.1027_1034del (p.Glu343Ter)
c.631_638del (p.Glu211Ter)
c.748_755del (p.Glu250Ter)
c.1006_1013del (p.Glu336Ter)
c.993+2853_993+2860del (n.993+2853_993+2860del)
c.782+3499_782+3506del (n.782+3499_782+3506del)
c.*134_*141del (n.*134_*141del)
c.*46_*53del (n.*46_*53del)
c.54-992_54-985del
c.910_917del (p.Glu304Ter)
c.994_1001del (p.Glu332Ter)
c.550_557del (p.Glu184Ter)
ClinVar dbSNP
17g.7670675_7670684dupCA645587302TP53c.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
17g.7670676T>ACA397832491TP53c.1033A>T (p.Asn345Tyr)
c.637A>T (p.Asn213Tyr)
c.754A>T (p.Asn252Tyr)
c.1012A>T (p.Asn338Tyr)
c.993+2859A>T (n.993+2859A>T)
c.782+3505A>T (n.782+3505A>T)
c.*140A>T (n.*140A>T)
c.*52A>T (n.*52A>T)
c.54-986A>T
c.916A>T (p.Asn306Tyr)
c.1000A>T (p.Asn334Tyr)
c.556A>T (p.Asn186Tyr)
dbSNP
17g.7670676T>CCA397832493TP53c.1033A>G (p.Asn345Asp)
c.637A>G (p.Asn213Asp)
c.754A>G (p.Asn252Asp)
c.1012A>G (p.Asn338Asp)
c.993+2859A>G (n.993+2859A>G)
c.782+3505A>G (n.782+3505A>G)
c.*140A>G (n.*140A>G)
c.*52A>G (n.*52A>G)
c.54-986A>G
c.916A>G (p.Asn306Asp)
c.1000A>G (p.Asn334Asp)
c.556A>G (p.Asn186Asp)
COSMIC COSMIC
17g.7670676T>GCA397832498TP53c.1033A>C (p.Asn345His)
c.637A>C (p.Asn213His)
c.754A>C (p.Asn252His)
c.1012A>C (p.Asn338His)
c.993+2859A>C (n.993+2859A>C)
c.782+3505A>C (n.782+3505A>C)
c.*140A>C (n.*140A>C)
c.*52A>C (n.*52A>C)
c.54-986A>C
c.916A>C (p.Asn306His)
c.1000A>C (p.Asn334His)
c.556A>C (p.Asn186His)
17g.7670676_7670677delCA645587303TP53c.1032_1033del (p.Asn345Ter)
c.636_637del (p.Asn213Ter)
c.753_754del (p.Asn252Ter)
c.1011_1012del (p.Asn338Ter)
c.993+2858_993+2859del (n.993+2858_993+2859del)
c.782+3504_782+3505del (n.782+3504_782+3505del)
c.*139_*140del (n.*139_*140del)
c.*51_*52del (n.*51_*52del)
c.54-987_54-986del
c.915_916del (p.Asn306Ter)
c.999_1000del (p.Asn334Ter)
c.555_556del (p.Asn186Ter)
COSMIC COSMIC
17g.7670677delCA497712589TP53c.1032del (p.Asn345MetfsTer25)
c.636del (p.Asn213MetfsTer25)
c.753del (p.Asn252MetfsTer25)
c.1011del (p.Asn338MetfsTer25)
c.993+2858del (n.993+2858del)
c.782+3504del (n.782+3504del)
c.*139del (n.*139del)
c.*51del (n.*51del)
c.54-987del
c.915del (p.Asn306MetfsTer25)
c.999del (p.Asn334MetfsTer25)
c.555del (p.Asn186MetfsTer25)
c.915del (p.Asn306MetfsTer?)
COSMIC
17g.7670677C>ACA497712588TP53c.1032G>T (p.Leu344=)
c.636G>T (p.Leu212=)
c.753G>T (p.Leu251=)
c.1011G>T (p.Leu337=)
c.993+2858G>T (n.993+2858G>T)
c.782+3504G>T (n.782+3504G>T)
c.*139G>T (n.*139G>T)
c.*51G>T (n.*51G>T)
c.54-987G>T
c.915G>T (p.Leu305=)
c.999G>T (p.Leu333=)
c.555G>T (p.Leu185=)
17g.7670677C=CA2245942835TP53c.1032G= (p.Leu344=)
c.636G= (p.Leu212=)
c.753G= (p.Leu251=)
c.1011G= (p.Leu337=)
c.993+2858G= (n.993+2858G=)
c.782+3504G= (n.782+3504G=)
c.*139G= (n.*139G=)
c.*51G= (n.*51G=)
c.54-987G=
c.915G= (p.Leu305=)
c.999G= (p.Leu333=)
c.555G= (p.Leu185=)
17g.7670677C>GCA000829TP53c.1032G>C (p.Leu344=)
c.636G>C (p.Leu212=)
c.753G>C (p.Leu251=)
c.1011G>C (p.Leu337=)
c.993+2858G>C (n.993+2858G>C)
c.782+3504G>C (n.782+3504G>C)
c.*139G>C (n.*139G>C)
c.*51G>C (n.*51G>C)
c.54-987G>C
c.915G>C (p.Leu305=)
c.999G>C (p.Leu333=)
c.555G>C (p.Leu185=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.7670677C>TCA350737TP53c.1032G>A (p.Leu344=)
c.636G>A (p.Leu212=)
c.753G>A (p.Leu251=)
c.1011G>A (p.Leu337=)
c.993+2858G>A (n.993+2858G>A)
c.782+3504G>A (n.782+3504G>A)
c.*139G>A (n.*139G>A)
c.*51G>A (n.*51G>A)
c.54-987G>A
c.915G>A (p.Leu305=)
c.999G>A (p.Leu333=)
c.555G>A (p.Leu185=)
ClinVar dbSNP gnomAD v4
17g.7670678A=CA2245942844TP53c.1031T= (p.Leu344=)
c.635T= (p.Leu212=)
c.752T= (p.Leu251=)
c.1010T= (p.Leu337=)
c.993+2857T= (n.993+2857T=)
c.782+3503T= (n.782+3503T=)
c.*138T= (n.*138T=)
c.*50T= (n.*50T=)
c.54-988T=
c.914T= (p.Leu305=)
c.998T= (p.Leu333=)
c.554T= (p.Leu185=)
17g.7670678A>CCA397832502TP53c.1031T>G (p.Leu344Arg)
c.635T>G (p.Leu212Arg)
c.752T>G (p.Leu251Arg)
c.1010T>G (p.Leu337Arg)
c.993+2857T>G (n.993+2857T>G)
c.782+3503T>G (n.782+3503T>G)
c.*138T>G (n.*138T>G)
c.*50T>G (n.*50T>G)
c.54-988T>G
c.914T>G (p.Leu305Arg)
c.998T>G (p.Leu333Arg)
c.554T>G (p.Leu185Arg)
ClinVar COSMIC COSMIC
17g.7670678A>GCA000021TP53c.1031T>C (p.Leu344Pro)
c.635T>C (p.Leu212Pro)
c.752T>C (p.Leu251Pro)
c.1010T>C (p.Leu337Pro)
c.993+2857T>C (n.993+2857T>C)
c.782+3503T>C (n.782+3503T>C)
c.*138T>C (n.*138T>C)
c.*50T>C (n.*50T>C)
c.54-988T>C
c.914T>C (p.Leu305Pro)
c.998T>C (p.Leu333Pro)
c.554T>C (p.Leu185Pro)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.7670678A>TCA397832505TP53c.1031T>A (p.Leu344Gln)
c.635T>A (p.Leu212Gln)
c.752T>A (p.Leu251Gln)
c.1010T>A (p.Leu337Gln)
c.993+2857T>A (n.993+2857T>A)
c.782+3503T>A (n.782+3503T>A)
c.*138T>A (n.*138T>A)
c.*50T>A (n.*50T>A)
c.54-988T>A
c.914T>A (p.Leu305Gln)
c.998T>A (p.Leu333Gln)
c.554T>A (p.Leu185Gln)
dbSNP
17g.7670678_7670679insCTCA645587304TP53c.1030_1031insAG (p.Leu344GlnfsTer2)
c.634_635insAG (p.Leu212GlnfsTer2)
c.751_752insAG (p.Leu251GlnfsTer2)
c.1009_1010insAG (p.Leu337GlnfsTer2)
c.993+2856_993+2857insAG (n.993+2856_993+2857insAG)
c.782+3502_782+3503insAG (n.782+3502_782+3503insAG)
c.*137_*138insAG (n.*137_*138insAG)
c.*49_*50insAG (n.*49_*50insAG)
c.54-989_54-988insAG
c.913_914insAG (p.Leu305GlnfsTer2)
c.997_998insAG (p.Leu333GlnfsTer2)
c.553_554insAG (p.Leu185GlnfsTer2)
COSMIC COSMIC
17g.7670679G>ACA497712593TP53c.1030C>T (p.Leu344=)
c.634C>T (p.Leu212=)
c.751C>T (p.Leu251=)
c.1009C>T (p.Leu337=)
c.993+2856C>T (n.993+2856C>T)
c.782+3502C>T (n.782+3502C>T)
c.*137C>T (n.*137C>T)
c.*49C>T (n.*49C>T)
c.54-989C>T
c.913C>T (p.Leu305=)
c.997C>T (p.Leu333=)
c.553C>T (p.Leu185=)
ClinVar dbSNP gnomAD v4
17g.7670679G>CCA397832512TP53c.1030C>G (p.Leu344Val)
c.634C>G (p.Leu212Val)
c.751C>G (p.Leu251Val)
c.1009C>G (p.Leu337Val)
c.993+2856C>G (n.993+2856C>G)
c.782+3502C>G (n.782+3502C>G)
c.*137C>G (n.*137C>G)
c.*49C>G (n.*49C>G)
c.54-989C>G
c.913C>G (p.Leu305Val)
c.997C>G (p.Leu333Val)
c.553C>G (p.Leu185Val)
ClinVar dbSNP gnomAD v4
17g.7670679G=CA2245942854TP53c.1030C= (p.Leu344=)
c.634C= (p.Leu212=)
c.751C= (p.Leu251=)
c.1009C= (p.Leu337=)
c.993+2856C= (n.993+2856C=)
c.782+3502C= (n.782+3502C=)
c.*137C= (n.*137C=)
c.*49C= (n.*49C=)
c.54-989C=
c.913C= (p.Leu305=)
c.997C= (p.Leu333=)
c.553C= (p.Leu185=)
17g.7670679G>TCA397832507TP53c.1030C>A (p.Leu344Met)
c.634C>A (p.Leu212Met)
c.751C>A (p.Leu251Met)
c.1009C>A (p.Leu337Met)
c.993+2856C>A (n.993+2856C>A)
c.782+3502C>A (n.782+3502C>A)
c.*137C>A (n.*137C>A)
c.*49C>A (n.*49C>A)
c.54-989C>A
c.913C>A (p.Leu305Met)
c.997C>A (p.Leu333Met)
c.553C>A (p.Leu185Met)
ClinVar
17g.7670680C>ACA397832518TP53c.1029G>T (p.Glu343Asp)
c.633G>T (p.Glu211Asp)
c.750G>T (p.Glu250Asp)
c.1008G>T (p.Glu336Asp)
c.993+2855G>T (n.993+2855G>T)
c.782+3501G>T (n.782+3501G>T)
c.*136G>T (n.*136G>T)
c.*48G>T (n.*48G>T)
c.54-990G>T
c.912G>T (p.Glu304Asp)
c.996G>T (p.Glu332Asp)
c.552G>T (p.Glu184Asp)
17g.7670680C>GCA397832519TP53c.1029G>C (p.Glu343Asp)
c.633G>C (p.Glu211Asp)
c.750G>C (p.Glu250Asp)
c.1008G>C (p.Glu336Asp)
c.993+2855G>C (n.993+2855G>C)
c.782+3501G>C (n.782+3501G>C)
c.*136G>C (n.*136G>C)
c.*48G>C (n.*48G>C)
c.54-990G>C
c.912G>C (p.Glu304Asp)
c.996G>C (p.Glu332Asp)
c.552G>C (p.Glu184Asp)
ClinVar dbSNP
17g.7670680C>TCA497712597TP53c.1029G>A (p.Glu343=)
c.633G>A (p.Glu211=)
c.750G>A (p.Glu250=)
c.1008G>A (p.Glu336=)
c.993+2855G>A (n.993+2855G>A)
c.782+3501G>A (n.782+3501G>A)
c.*136G>A (n.*136G>A)
c.*48G>A (n.*48G>A)
c.54-990G>A
c.912G>A (p.Glu304=)
c.996G>A (p.Glu332=)
c.552G>A (p.Glu184=)
17g.7670683_7670684delCA645587305TP53c.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
17g.7670680_7670690delinsCTCTCGGAACACA2245942865TP53c.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=)
17g.7670681delCA2580094851TP53c.1028del (p.Glu343GlyfsTer2)
c.632del (p.Glu211GlyfsTer2)
c.749del (p.Glu250GlyfsTer2)
c.1007del (p.Glu336GlyfsTer2)
c.993+2854del (n.993+2854del)
c.782+3500del (n.782+3500del)
c.*135del (n.*135del)
c.*47del (n.*47del)
c.54-991del
c.911del (p.Glu304GlyfsTer2)
c.995del (p.Glu332GlyfsTer2)
c.551del (p.Glu184GlyfsTer2)
ClinVar dbSNP
17g.7670681T>ACA397832521TP53c.1028A>T (p.Glu343Val)
c.632A>T (p.Glu211Val)
c.749A>T (p.Glu250Val)
c.1007A>T (p.Glu336Val)
c.993+2854A>T (n.993+2854A>T)
c.782+3500A>T (n.782+3500A>T)
c.*135A>T (n.*135A>T)
c.*47A>T (n.*47A>T)
c.54-991A>T
c.911A>T (p.Glu304Val)
c.995A>T (p.Glu332Val)
c.551A>T (p.Glu184Val)
dbSNP
17g.7670681T>CCA397832522TP53c.1028A>G (p.Glu343Gly)
c.632A>G (p.Glu211Gly)
c.749A>G (p.Glu250Gly)
c.1007A>G (p.Glu336Gly)
c.993+2854A>G (n.993+2854A>G)
c.782+3500A>G (n.782+3500A>G)
c.*135A>G (n.*135A>G)
c.*47A>G (n.*47A>G)
c.54-991A>G
c.911A>G (p.Glu304Gly)
c.995A>G (p.Glu332Gly)
c.551A>G (p.Glu184Gly)
gnomAD v4
17g.7670681T>GCA397832528TP53c.1028A>C (p.Glu343Ala)
c.632A>C (p.Glu211Ala)
c.749A>C (p.Glu250Ala)
c.1007A>C (p.Glu336Ala)
c.993+2854A>C (n.993+2854A>C)
c.782+3500A>C (n.782+3500A>C)
c.*135A>C (n.*135A>C)
c.*47A>C (n.*47A>C)
c.54-991A>C
c.911A>C (p.Glu304Ala)
c.995A>C (p.Glu332Ala)
c.551A>C (p.Glu184Ala)
17g.7670686_7670695delCA913188761TP53c.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
17g.7670682C>ACA397832533TP53c.1027G>T (p.Glu343Ter)
c.631G>T (p.Glu211Ter)
c.748G>T (p.Glu250Ter)
c.1006G>T (p.Glu336Ter)
c.993+2853G>T (n.993+2853G>T)
c.782+3499G>T (n.782+3499G>T)
c.*134G>T (n.*134G>T)
c.*46G>T (n.*46G>T)
c.54-992G>T
c.910G>T (p.Glu304Ter)
c.994G>T (p.Glu332Ter)
c.550G>T (p.Glu184Ter)
dbSNP COSMIC COSMIC
17g.7670682C=CA2245942873TP53c.1027G= (p.Glu343=)
c.631G= (p.Glu211=)
c.748G= (p.Glu250=)
c.1006G= (p.Glu336=)
c.993+2853G= (n.993+2853G=)
c.782+3499G= (n.782+3499G=)
c.*134G= (n.*134G=)
c.*46G= (n.*46G=)
c.54-992G=
c.910G= (p.Glu304=)
c.994G= (p.Glu332=)
c.550G= (p.Glu184=)
17g.7670682C>GCA287485739TP53c.1027G>C (p.Glu343Gln)
c.631G>C (p.Glu211Gln)
c.748G>C (p.Glu250Gln)
c.1006G>C (p.Glu336Gln)
c.993+2853G>C (n.993+2853G>C)
c.782+3499G>C (n.782+3499G>C)
c.*134G>C (n.*134G>C)
c.*46G>C (n.*46G>C)
c.54-992G>C
c.910G>C (p.Glu304Gln)
c.994G>C (p.Glu332Gln)
c.550G>C (p.Glu184Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7670682C>TCA397832559TP53c.1027G>A (p.Glu343Lys)
c.631G>A (p.Glu211Lys)
c.748G>A (p.Glu250Lys)
c.1006G>A (p.Glu336Lys)
c.993+2853G>A (n.993+2853G>A)
c.782+3499G>A (n.782+3499G>A)
c.*134G>A (n.*134G>A)
c.*46G>A (n.*46G>A)
c.54-992G>A
c.910G>A (p.Glu304Lys)
c.994G>A (p.Glu332Lys)
c.550G>A (p.Glu184Lys)
dbSNP
17g.7670683T>ACA497712601TP53c.1026A>T (p.Arg342=)
c.630A>T (p.Arg210=)
c.747A>T (p.Arg249=)
c.1005A>T (p.Arg335=)
c.993+2852A>T (n.993+2852A>T)
c.782+3498A>T (n.782+3498A>T)
c.*133A>T (n.*133A>T)
c.*45A>T (n.*45A>T)
c.54-993A>T
c.909A>T (p.Arg303=)
c.993A>T (p.Arg331=)
c.549A>T (p.Arg183=)
dbSNP
17g.7670683T>CCA497712600TP53c.1026A>G (p.Arg342=)
c.630A>G (p.Arg210=)
c.747A>G (p.Arg249=)
c.1005A>G (p.Arg335=)
c.993+2852A>G (n.993+2852A>G)
c.782+3498A>G (n.782+3498A>G)
c.*133A>G (n.*133A>G)
c.*45A>G (n.*45A>G)
c.54-993A>G
c.909A>G (p.Arg303=)
c.993A>G (p.Arg331=)
c.549A>G (p.Arg183=)
ClinVar dbSNP
17g.7670683T>GCA497712599TP53c.1026A>C (p.Arg342=)
c.630A>C (p.Arg210=)
c.747A>C (p.Arg249=)
c.1005A>C (p.Arg335=)
c.993+2852A>C (n.993+2852A>C)
c.782+3498A>C (n.782+3498A>C)
c.*133A>C (n.*133A>C)
c.*45A>C (n.*45A>C)
c.54-993A>C
c.909A>C (p.Arg303=)
c.993A>C (p.Arg331=)
c.549A>C (p.Arg183=)
17g.7670684delCA497712603TP53c.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
17g.7670684C>ACA397832566TP53c.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
17g.7670684C=CA2245942882TP53c.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=)
17g.7670684C>GCA337802TP53c.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
17g.7670684C>TCA000835TP53c.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
17g.7670684_7670685delCA2697559388TP53c.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
17g.7670684_7670685delinsAACA915949512TP53c.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
17g.7670684_7670685delinsCGCA2245942885TP53c.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=)
17g.7670684_7670686delinsCGGCA2245942886TP53c.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=)
17g.7670685G>ACA000019TP53c.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
17g.7670685G>CCA397832599TP53c.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
17g.7670685G=CA2245942905TP53c.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=)
17g.7670685G>TCA497712604TP53c.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
17g.7670685_7670686delinsACA919785603TP53c.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
17g.7670685_7670686delinsAACA645587307TP53c.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
17g.7670686delCA497712605TP53c.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
17g.7670685_7670686insACA645587309TP53c.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
17g.7670685_7670686insTTCAGCTCTCCA645587310TP53c.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
17g.7670686G>ACA349981TP53c.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
17g.7670686G>CCA397832612TP53c.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
17g.7670686G=CA2245942920TP53c.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=)
17g.7670686G>TCA397832608TP53c.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)
ClinVar dbSNP COSMIC
17g.7670686_7670687delCA645587308TP53c.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
17g.7670687A>CCA397832615TP53c.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
17g.7670687A>GCA397832622TP53c.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
17g.7670687A>TCA397832617TP53c.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
17g.7670687_7670688delinsAACA2245942926TP53c.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=)
17g.7670687_7670688delinsCTCA2580094859TP53c.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
17g.7670688delCA497712606TP53c.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
17g.7670687_7670694delCA645587311TP53c.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
17g.7670688A>CCA397832624TP53c.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)
17g.7670688A>GCA397832628TP53c.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)
17g.7670688A>TCA397832636TP53c.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
17g.7670688delinsTTCCA1139665113TP53c.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
17g.7670688_7670694dupCA645587313TP53c.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
17g.7670689C>ACA397832641TP53c.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
17g.7670689C=CA2245942934TP53c.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=)
17g.7670689C>GCA397832643TP53c.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
17g.7670689C>TCA397832656TP53c.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
17g.7670689_7670709delCA645587314TP53c.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
17g.7670690A=CA2245942943TP53c.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=)
17g.7670690A>CCA397832661TP53c.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)
17g.7670690A>GCA397832662TP53c.1019T>C (p.Met340Thr)
c.623T>C (p.Met208Thr)
c.740T>C (p.Met247Thr)
c.998T>C (p.Met333Thr)
c.993+2845T>C (n.993+2845T>C)
c.782+3491T>C (n.782+3491T>C)
c.*126T>C (n.*126T>C)
c.*38T>C (n.*38T>C)
c.54-1000T>C
c.902T>C (p.Met301Thr)
c.986T>C (p.Met329Thr)
c.542T>C (p.Met181Thr)
17g.7670690A>TCA397832663TP53c.1019T>A (p.Met340Lys)
c.623T>A (p.Met208Lys)
c.740T>A (p.Met247Lys)
c.998T>A (p.Met333Lys)
c.993+2845T>A (n.993+2845T>A)
c.782+3491T>A (n.782+3491T>A)
c.*126T>A (n.*126T>A)
c.*38T>A (n.*38T>A)
c.54-1000T>A
c.902T>A (p.Met301Lys)
c.986T>A (p.Met329Lys)
c.542T>A (p.Met181Lys)
ClinVar dbSNP
17g.7670690_7670691delinsATCA2245942945TP53c.1018_1019delinsAT (p.Met340=)
c.622_623delinsAT (p.Met208=)
c.739_740delinsAT (p.Met247=)
c.997_998delinsAT (p.Met333=)
c.993+2844_993+2845delinsAT (n.993+2844_993+2845delinsAT)
c.782+3490_782+3491delinsAT (n.782+3490_782+3491delinsAT)
c.*125_*126delinsAT (n.*125_*126delinsAT)
c.*37_*38delinsAT (n.*37_*38delinsAT)
c.54-1001_54-1000delinsAT
c.901_902delinsAT (p.Met301=)
c.985_986delinsAT (p.Met329=)
c.541_542delinsAT (p.Met181=)
17g.7670691delCA645369695TP53c.1018del (p.Met340CysfsTer5)
c.622del (p.Met208CysfsTer5)
c.739del (p.Met247CysfsTer5)
c.997del (p.Met333CysfsTer5)
c.993+2844del (n.993+2844del)
c.782+3490del (n.782+3490del)
c.*125del (n.*125del)
c.*37del (n.*37del)
c.54-1001del
c.901del (p.Met301CysfsTer5)
c.985del (p.Met329CysfsTer5)
c.541del (p.Met181CysfsTer5)
ClinVar dbSNP COSMIC COSMIC
17g.7670691T>ACA397832664TP53c.1018A>T (p.Met340Leu)
c.622A>T (p.Met208Leu)
c.739A>T (p.Met247Leu)
c.997A>T (p.Met333Leu)
c.993+2844A>T (n.993+2844A>T)
c.782+3490A>T (n.782+3490A>T)
c.*125A>T (n.*125A>T)
c.*37A>T (n.*37A>T)
c.54-1001A>T
c.901A>T (p.Met301Leu)
c.985A>T (p.Met329Leu)
c.541A>T (p.Met181Leu)
dbSNP
17g.7670691T>CCA397832665TP53c.1018A>G (p.Met340Val)
c.622A>G (p.Met208Val)
c.739A>G (p.Met247Val)
c.997A>G (p.Met333Val)
c.993+2844A>G (n.993+2844A>G)
c.782+3490A>G (n.782+3490A>G)
c.*125A>G (n.*125A>G)
c.*37A>G (n.*37A>G)
c.54-1001A>G
c.901A>G (p.Met301Val)
c.985A>G (p.Met329Val)
c.541A>G (p.Met181Val)
dbSNP COSMIC
17g.7670691T>GCA397832666TP53c.1018A>C (p.Met340Leu)
c.622A>C (p.Met208Leu)
c.739A>C (p.Met247Leu)
c.997A>C (p.Met333Leu)
c.993+2844A>C (n.993+2844A>C)
c.782+3490A>C (n.782+3490A>C)
c.*125A>C (n.*125A>C)
c.*37A>C (n.*37A>C)
c.54-1001A>C
c.901A>C (p.Met301Leu)
c.985A>C (p.Met329Leu)
c.541A>C (p.Met181Leu)
17g.7670691_7670693delCA645587315TP53c.1016_1018del (p.Glu339_Met340delinsVal)
c.620_622del (p.Glu207_Met208delinsVal)
c.737_739del (p.Glu246_Met247delinsVal)
c.995_997del (p.Glu332_Met333delinsVal)
c.993+2842_993+2844del (n.993+2842_993+2844del)
c.782+3488_782+3490del (n.782+3488_782+3490del)
c.*123_*125del (n.*123_*125del)
c.*35_*37del (n.*35_*37del)
c.54-1003_54-1001del
c.899_901del (p.Glu300_Met301delinsVal)
c.983_985del (p.Glu328_Met329delinsVal)
c.539_541del (p.Glu180_Met181delinsVal)
COSMIC
17g.7670691_7670695dupCA645587317TP53c.1014_1018dup (p.Met340ThrfsTer7)
c.618_622dup (p.Met208ThrfsTer7)
c.735_739dup (p.Met247ThrfsTer7)
c.993_997dup (p.Met333ThrfsTer7)
c.993+2840_993+2844dup (n.993+2840_993+2844dup)
c.782+3486_782+3490dup (n.782+3486_782+3490dup)
c.*121_*125dup (n.*121_*125dup)
c.*33_*37dup (n.*33_*37dup)
c.54-1005_54-1001dup
c.897_901dup (p.Met301ThrfsTer7)
c.981_985dup (p.Met329ThrfsTer7)
c.537_541dup (p.Met181ThrfsTer7)
COSMIC
17g.7670691_7670699delCA645587316TP53c.1010_1018del (p.Arg337_Met340delinsLeu)
c.614_622del (p.Arg205_Met208delinsLeu)
c.731_739del (p.Arg244_Met247delinsLeu)
c.989_997del (p.Arg330_Met333delinsLeu)
c.993+2836_993+2844del (n.993+2836_993+2844del)
c.782+3482_782+3490del (n.782+3482_782+3490del)
c.*117_*125del (n.*117_*125del)
c.*29_*37del (n.*29_*37del)
c.54-1009_54-1001del
c.893_901del (p.Arg298_Met301delinsLeu)
c.977_985del (p.Arg326_Met329delinsLeu)
c.533_541del (p.Arg178_Met181delinsLeu)
COSMIC COSMIC
17g.7670692delCA645587318TP53c.1017del (p.Met340CysfsTer5)
c.621del (p.Met208CysfsTer5)
c.738del (p.Met247CysfsTer5)
c.996del (p.Met333CysfsTer5)
c.993+2843del (n.993+2843del)
c.782+3489del (n.782+3489del)
c.*124del (n.*124del)
c.*36del (n.*36del)
c.54-1002del
c.900del (p.Met301CysfsTer5)
c.984del (p.Met329CysfsTer5)
c.540del (p.Met181CysfsTer5)
COSMIC COSMIC
17g.7670692C>ACA397832670TP53c.1017G>T (p.Glu339Asp)
c.621G>T (p.Glu207Asp)
c.738G>T (p.Glu246Asp)
c.996G>T (p.Glu332Asp)
c.993+2843G>T (n.993+2843G>T)
c.782+3489G>T (n.782+3489G>T)
c.*124G>T (n.*124G>T)
c.*36G>T (n.*36G>T)
c.54-1002G>T
c.900G>T (p.Glu300Asp)
c.984G>T (p.Glu328Asp)
c.540G>T (p.Glu180Asp)
17g.7670692C>GCA397832668TP53c.1017G>C (p.Glu339Asp)
c.621G>C (p.Glu207Asp)
c.738G>C (p.Glu246Asp)
c.996G>C (p.Glu332Asp)
c.993+2843G>C (n.993+2843G>C)
c.782+3489G>C (n.782+3489G>C)
c.*124G>C (n.*124G>C)
c.*36G>C (n.*36G>C)
c.54-1002G>C
c.900G>C (p.Glu300Asp)
c.984G>C (p.Glu328Asp)
c.540G>C (p.Glu180Asp)
dbSNP
17g.7670692C>TCA497712607TP53c.1017G>A (p.Glu339=)
c.621G>A (p.Glu207=)
c.738G>A (p.Glu246=)
c.996G>A (p.Glu332=)
c.993+2843G>A (n.993+2843G>A)
c.782+3489G>A (n.782+3489G>A)
c.*124G>A (n.*124G>A)
c.*36G>A (n.*36G>A)
c.54-1002G>A
c.900G>A (p.Glu300=)
c.984G>A (p.Glu328=)
c.540G>A (p.Glu180=)
gnomAD v4
17g.7670692dupCA645587319TP53c.1017dup (p.Met340AspfsTer7)
c.621dup (p.Met208AspfsTer7)
c.738dup (p.Met247AspfsTer7)
c.996dup (p.Met333AspfsTer7)
c.993+2843dup (n.993+2843dup)
c.782+3489dup (n.782+3489dup)
c.*124dup (n.*124dup)
c.*36dup (n.*36dup)
c.54-1002dup
c.900dup (p.Met301AspfsTer7)
c.984dup (p.Met329AspfsTer7)
c.540dup (p.Met181AspfsTer7)
COSMIC COSMIC
17g.7670692_7670695delCA645587320TP53c.1014_1017del (p.Phe338LeufsTer6)
c.618_621del (p.Phe206LeufsTer6)
c.735_738del (p.Phe245LeufsTer6)
c.993_996del (p.Phe331LeufsTer6)
c.993+2840_993+2843del (n.993+2840_993+2843del)
c.782+3486_782+3489del (n.782+3486_782+3489del)
c.*121_*124del (n.*121_*124del)
c.*33_*36del (n.*33_*36del)
c.54-1005_54-1002del
c.897_900del (p.Phe299LeufsTer6)
c.981_984del (p.Phe327LeufsTer6)
c.537_540del (p.Phe179LeufsTer6)
COSMIC
17g.7670693T>ACA397832671TP53c.1016A>T (p.Glu339Val)
c.620A>T (p.Glu207Val)
c.737A>T (p.Glu246Val)
c.995A>T (p.Glu332Val)
c.993+2842A>T (n.993+2842A>T)
c.782+3488A>T (n.782+3488A>T)
c.*123A>T (n.*123A>T)
c.*35A>T (n.*35A>T)
c.54-1003A>T
c.899A>T (p.Glu300Val)
c.983A>T (p.Glu328Val)
c.539A>T (p.Glu180Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.7670693T>CCA397832675TP53c.1016A>G (p.Glu339Gly)
c.620A>G (p.Glu207Gly)
c.737A>G (p.Glu246Gly)
c.995A>G (p.Glu332Gly)
c.993+2842A>G (n.993+2842A>G)
c.782+3488A>G (n.782+3488A>G)
c.*123A>G (n.*123A>G)
c.*35A>G (n.*35A>G)
c.54-1003A>G
c.899A>G (p.Glu300Gly)
c.983A>G (p.Glu328Gly)
c.539A>G (p.Glu180Gly)
ClinVar dbSNP gnomAD v4
17g.7670693T>GCA397832681TP53c.1016A>C (p.Glu339Ala)
c.620A>C (p.Glu207Ala)
c.737A>C (p.Glu246Ala)
c.995A>C (p.Glu332Ala)
c.993+2842A>C (n.993+2842A>C)
c.782+3488A>C (n.782+3488A>C)
c.*123A>C (n.*123A>C)
c.*35A>C (n.*35A>C)
c.54-1003A>C
c.899A>C (p.Glu300Ala)
c.983A>C (p.Glu328Ala)
c.539A>C (p.Glu180Ala)
17g.7670693T=CA2245942959TP53c.1016A= (p.Glu339=)
c.620A= (p.Glu207=)
c.737A= (p.Glu246=)
c.995A= (p.Glu332=)
c.993+2842A= (n.993+2842A=)
c.782+3488A= (n.782+3488A=)
c.*123A= (n.*123A=)
c.*35A= (n.*35A=)
c.54-1003A=
c.899A= (p.Glu300=)
c.983A= (p.Glu328=)
c.539A= (p.Glu180=)
17g.7670693_7670695delCA645587321TP53c.1014_1016del (p.Phe338_Glu339delinsLeu)
c.618_620del (p.Phe206_Glu207delinsLeu)
c.735_737del (p.Phe245_Glu246delinsLeu)
c.993_995del (p.Phe331_Glu332delinsLeu)
c.993+2840_993+2842del (n.993+2840_993+2842del)
c.782+3486_782+3488del (n.782+3486_782+3488del)
c.*121_*123del (n.*121_*123del)
c.*33_*35del (n.*33_*35del)
c.54-1005_54-1003del
c.897_899del (p.Phe299_Glu300delinsLeu)
c.981_983del (p.Phe327_Glu328delinsLeu)
c.537_539del (p.Phe179_Glu180delinsLeu)
COSMIC
17g.7670694delCA645587322TP53c.1015del (p.Glu339ArgfsTer6)
c.619del (p.Glu207ArgfsTer6)
c.736del (p.Glu246ArgfsTer6)
c.994del (p.Glu332ArgfsTer6)
c.993+2841del (n.993+2841del)
c.782+3487del (n.782+3487del)
c.*122del (n.*122del)
c.*34del (n.*34del)
c.54-1004del
c.898del (p.Glu300ArgfsTer6)
c.982del (p.Glu328ArgfsTer6)
c.538del (p.Glu180ArgfsTer6)
COSMIC COSMIC
17g.7670694C>ACA397832685TP53c.1015G>T (p.Glu339Ter)
c.619G>T (p.Glu207Ter)
c.736G>T (p.Glu246Ter)
c.994G>T (p.Glu332Ter)
c.993+2841G>T (n.993+2841G>T)
c.782+3487G>T (n.782+3487G>T)
c.*122G>T (n.*122G>T)
c.*34G>T (n.*34G>T)
c.54-1004G>T
c.898G>T (p.Glu300Ter)
c.982G>T (p.Glu328Ter)
c.538G>T (p.Glu180Ter)
ClinVar dbSNP COSMIC COSMIC
17g.7670694C=CA2245942975TP53c.1015G= (p.Glu339=)
c.619G= (p.Glu207=)
c.736G= (p.Glu246=)
c.994G= (p.Glu332=)
c.993+2841G= (n.993+2841G=)
c.782+3487G= (n.782+3487G=)
c.*122G= (n.*122G=)
c.*34G= (n.*34G=)
c.54-1004G=
c.898G= (p.Glu300=)
c.982G= (p.Glu328=)
c.538G= (p.Glu180=)
17g.7670694C>GCA000018TP53c.1015G>C (p.Glu339Gln)
c.619G>C (p.Glu207Gln)
c.736G>C (p.Glu246Gln)
c.994G>C (p.Glu332Gln)
c.993+2841G>C (n.993+2841G>C)
c.782+3487G>C (n.782+3487G>C)
c.*122G>C (n.*122G>C)
c.*34G>C (n.*34G>C)
c.54-1004G>C
c.898G>C (p.Glu300Gln)
c.982G>C (p.Glu328Gln)
c.538G>C (p.Glu180Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.7670694C>TCA000017TP53c.1015G>A (p.Glu339Lys)
c.619G>A (p.Glu207Lys)
c.736G>A (p.Glu246Lys)
c.994G>A (p.Glu332Lys)
c.993+2841G>A (n.993+2841G>A)
c.782+3487G>A (n.782+3487G>A)
c.*122G>A (n.*122G>A)
c.*34G>A (n.*34G>A)
c.54-1004G>A
c.898G>A (p.Glu300Lys)
c.982G>A (p.Glu328Lys)
c.538G>A (p.Glu180Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.7670694_7670695insACA913190572TP53c.1014_1015insT (p.Glu339Ter)
c.618_619insT (p.Glu207Ter)
c.735_736insT (p.Glu246Ter)
c.993_994insT (p.Glu332Ter)
c.993+2840_993+2841insT (n.993+2840_993+2841insT)
c.782+3486_782+3487insT (n.782+3486_782+3487insT)
c.*121_*122insT (n.*121_*122insT)
c.*33_*34insT (n.*33_*34insT)
c.54-1005_54-1004insT
c.897_898insT (p.Glu300Ter)
c.981_982insT (p.Glu328Ter)
c.537_538insT (p.Glu180Ter)
ClinVar dbSNP
17g.7670695delCA497712608TP53c.1014del (p.Phe338LeufsTer7)
c.618del (p.Phe206LeufsTer7)
c.735del (p.Phe245LeufsTer7)
c.993del (p.Phe331LeufsTer7)
c.993+2840del (n.993+2840del)
c.782+3486del (n.782+3486del)
c.*121del (n.*121del)
c.*33del (n.*33del)
c.54-1005del
c.897del (p.Phe299LeufsTer7)
c.981del (p.Phe327LeufsTer7)
c.537del (p.Phe179LeufsTer7)
COSMIC
17g.7670695G>ACA000016TP53c.1014C>T (p.Phe338=)
c.618C>T (p.Phe206=)
c.735C>T (p.Phe245=)
c.993C>T (p.Phe331=)
c.993+2840C>T (n.993+2840C>T)
c.782+3486C>T (n.782+3486C>T)
c.*121C>T (n.*121C>T)
c.*33C>T (n.*33C>T)
c.54-1005C>T
c.897C>T (p.Phe299=)
c.981C>T (p.Phe327=)
c.537C>T (p.Phe179=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.7670695G>CCA000848TP53c.1014C>G (p.Phe338Leu)
c.618C>G (p.Phe206Leu)
c.735C>G (p.Phe245Leu)
c.993C>G (p.Phe331Leu)
c.993+2840C>G (n.993+2840C>G)
c.782+3486C>G (n.782+3486C>G)
c.*121C>G (n.*121C>G)
c.*33C>G (n.*33C>G)
c.54-1005C>G
c.897C>G (p.Phe299Leu)
c.981C>G (p.Phe327Leu)
c.537C>G (p.Phe179Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.7670695G=CA2245943006TP53c.1014C= (p.Phe338=)
c.618C= (p.Phe206=)
c.735C= (p.Phe245=)
c.993C= (p.Phe331=)
c.993+2840C= (n.993+2840C=)
c.782+3486C= (n.782+3486C=)
c.*121C= (n.*121C=)
c.*33C= (n.*33C=)
c.54-1005C=
c.897C= (p.Phe299=)
c.981C= (p.Phe327=)
c.537C= (p.Phe179=)
17g.7670695G>TCA397832711TP53c.1014C>A (p.Phe338Leu)
c.618C>A (p.Phe206Leu)
c.735C>A (p.Phe245Leu)
c.993C>A (p.Phe331Leu)
c.993+2840C>A (n.993+2840C>A)
c.782+3486C>A (n.782+3486C>A)
c.*121C>A (n.*121C>A)
c.*33C>A (n.*33C>A)
c.54-1005C>A
c.897C>A (p.Phe299Leu)
c.981C>A (p.Phe327Leu)
c.537C>A (p.Phe179Leu)
17g.7670695dupCA2499224952TP53c.1014dup (p.Glu339ArgfsTer8)
c.618dup (p.Glu207ArgfsTer8)
c.735dup (p.Glu246ArgfsTer8)
c.993dup (p.Glu332ArgfsTer8)
c.993+2840dup (n.993+2840dup)
c.782+3486dup (n.782+3486dup)
c.*121dup (n.*121dup)
c.*33dup (n.*33dup)
c.54-1005dup
c.897dup (p.Glu300ArgfsTer8)
c.981dup (p.Glu328ArgfsTer8)
c.537dup (p.Glu180ArgfsTer8)
ClinVar dbSNP
17g.7670696A=CA2245943025TP53c.1013T= (p.Phe338=)
c.617T= (p.Phe206=)
c.734T= (p.Phe245=)
c.992T= (p.Phe331=)
c.993+2839T= (n.993+2839T=)
c.782+3485T= (n.782+3485T=)
c.*120T= (n.*120T=)
c.*32T= (n.*32T=)
c.54-1006T=
c.896T= (p.Phe299=)
c.980T= (p.Phe327=)
c.536T= (p.Phe179=)
17g.7670696A>CCA397832713TP53c.1013T>G (p.Phe338Cys)
c.617T>G (p.Phe206Cys)
c.734T>G (p.Phe245Cys)
c.992T>G (p.Phe331Cys)
c.993+2839T>G (n.993+2839T>G)
c.782+3485T>G (n.782+3485T>G)
c.*120T>G (n.*120T>G)
c.*32T>G (n.*32T>G)
c.54-1006T>G
c.896T>G (p.Phe299Cys)
c.980T>G (p.Phe327Cys)
c.536T>G (p.Phe179Cys)
ClinVar dbSNP
17g.7670696A>GCA16620610TP53c.1013T>C (p.Phe338Ser)
c.617T>C (p.Phe206Ser)
c.734T>C (p.Phe245Ser)
c.992T>C (p.Phe331Ser)
c.993+2839T>C (n.993+2839T>C)
c.782+3485T>C (n.782+3485T>C)
c.*120T>C (n.*120T>C)
c.*32T>C (n.*32T>C)
c.54-1006T>C
c.896T>C (p.Phe299Ser)
c.980T>C (p.Phe327Ser)
c.536T>C (p.Phe179Ser)
ClinVar dbSNP
17g.7670696A>TCA397832733TP53c.1013T>A (p.Phe338Tyr)
c.617T>A (p.Phe206Tyr)
c.734T>A (p.Phe245Tyr)
c.992T>A (p.Phe331Tyr)
c.993+2839T>A (n.993+2839T>A)
c.782+3485T>A (n.782+3485T>A)
c.*120T>A (n.*120T>A)
c.*32T>A (n.*32T>A)
c.54-1006T>A
c.896T>A (p.Phe299Tyr)
c.980T>A (p.Phe327Tyr)
c.536T>A (p.Phe179Tyr)
dbSNP
17g.7670697A>CCA397832736TP53c.1012T>G (p.Phe338Val)
c.616T>G (p.Phe206Val)
c.733T>G (p.Phe245Val)
c.991T>G (p.Phe331Val)
c.993+2838T>G (n.993+2838T>G)
c.782+3484T>G (n.782+3484T>G)
c.*119T>G (n.*119T>G)
c.*31T>G (n.*31T>G)
c.54-1007T>G
c.895T>G (p.Phe299Val)
c.979T>G (p.Phe327Val)
c.535T>G (p.Phe179Val)
17g.7670697A>GCA397832735TP53c.1012T>C (p.Phe338Leu)
c.616T>C (p.Phe206Leu)
c.733T>C (p.Phe245Leu)
c.991T>C (p.Phe331Leu)
c.993+2838T>C (n.993+2838T>C)
c.782+3484T>C (n.782+3484T>C)
c.*119T>C (n.*119T>C)
c.*31T>C (n.*31T>C)
c.54-1007T>C
c.895T>C (p.Phe299Leu)
c.979T>C (p.Phe327Leu)
c.535T>C (p.Phe179Leu)
dbSNP
17g.7670697A>TCA397832734TP53c.1012T>A (p.Phe338Ile)
c.616T>A (p.Phe206Ile)
c.733T>A (p.Phe245Ile)
c.991T>A (p.Phe331Ile)
c.993+2838T>A (n.993+2838T>A)
c.782+3484T>A (n.782+3484T>A)
c.*119T>A (n.*119T>A)
c.*31T>A (n.*31T>A)
c.54-1007T>A
c.895T>A (p.Phe299Ile)
c.979T>A (p.Phe327Ile)
c.535T>A (p.Phe179Ile)
dbSNP COSMIC
17g.7670697_7670699delinsAGCCA2245943031TP53c.1010_1012delinsGCT (p.Arg337=)
c.614_616delinsGCT (p.Arg205=)
c.731_733delinsGCT (p.Arg244=)
c.989_991delinsGCT (p.Arg330=)
c.993+2836_993+2838delinsGCT (n.993+2836_993+2838delinsGCT)
c.782+3482_782+3484delinsGCT (n.782+3482_782+3484delinsGCT)
c.*117_*119delinsGCT (n.*117_*119delinsGCT)
c.*29_*31delinsGCT (n.*29_*31delinsGCT)
c.54-1009_54-1007delinsGCT
c.893_895delinsGCT (p.Arg298=)
c.977_979delinsGCT (p.Arg326=)
c.533_535delinsGCT (p.Arg178=)
17g.7670698G>ACA497712609TP53c.1011C>T (p.Arg337=)
c.615C>T (p.Arg205=)
c.732C>T (p.Arg244=)
c.990C>T (p.Arg330=)
c.993+2837C>T (n.993+2837C>T)
c.782+3483C>T (n.782+3483C>T)
c.*118C>T (n.*118C>T)
c.*30C>T (n.*30C>T)
c.54-1008C>T
c.894C>T (p.Arg298=)
c.978C>T (p.Arg326=)
c.534C>T (p.Arg178=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.7670698G>CCA497712610TP53c.1011C>G (p.Arg337=)
c.615C>G (p.Arg205=)
c.732C>G (p.Arg244=)
c.990C>G (p.Arg330=)
c.993+2837C>G (n.993+2837C>G)
c.782+3483C>G (n.782+3483C>G)
c.*118C>G (n.*118C>G)
c.*30C>G (n.*30C>G)
c.54-1008C>G
c.894C>G (p.Arg298=)
c.978C>G (p.Arg326=)
c.534C>G (p.Arg178=)
ClinVar dbSNP
17g.7670698G=CA2245943043TP53c.1011C= (p.Arg337=)
c.615C= (p.Arg205=)
c.732C= (p.Arg244=)
c.990C= (p.Arg330=)
c.993+2837C= (n.993+2837C=)
c.782+3483C= (n.782+3483C=)
c.*118C= (n.*118C=)
c.*30C= (n.*30C=)
c.54-1008C=
c.894C= (p.Arg298=)
c.978C= (p.Arg326=)
c.534C= (p.Arg178=)
17g.7670698G>TCA497712611TP53c.1011C>A (p.Arg337=)
c.615C>A (p.Arg205=)
c.732C>A (p.Arg244=)
c.990C>A (p.Arg330=)
c.993+2837C>A (n.993+2837C>A)
c.782+3483C>A (n.782+3483C>A)
c.*118C>A (n.*118C>A)
c.*30C>A (n.*30C>A)
c.54-1008C>A
c.894C>A (p.Arg298=)
c.978C>A (p.Arg326=)
c.534C>A (p.Arg178=)
17g.7670700_7670701delCA645369696TP53c.1010_1011del (p.Arg337LeufsTer9)
c.614_615del (p.Arg205LeufsTer9)
c.731_732del (p.Arg244LeufsTer9)
c.989_990del (p.Arg330LeufsTer9)
c.993+2836_993+2837del (n.993+2836_993+2837del)
c.782+3482_782+3483del (n.782+3482_782+3483del)
c.*117_*118del (n.*117_*118del)
c.*29_*30del (n.*29_*30del)
c.54-1009_54-1008del
c.893_894del (p.Arg298LeufsTer9)
c.977_978del (p.Arg326LeufsTer9)
c.533_534del (p.Arg178LeufsTer9)
ClinVar dbSNP COSMIC COSMIC
17g.7670699C>ACA000015TP53c.1010G>T (p.Arg337Leu)
c.614G>T (p.Arg205Leu)
c.731G>T (p.Arg244Leu)
c.989G>T (p.Arg330Leu)
c.993+2836G>T (n.993+2836G>T)
c.782+3482G>T (n.782+3482G>T)
c.*117G>T (n.*117G>T)
c.*29G>T (n.*29G>T)
c.54-1009G>T
c.893G>T (p.Arg298Leu)
c.977G>T (p.Arg326Leu)
c.533G>T (p.Arg178Leu)
ClinVar dbSNP COSMIC COSMIC
17g.7670699C=CA2245943066TP53c.1010G= (p.Arg337=)
c.614G= (p.Arg205=)
c.731G= (p.Arg244=)
c.989G= (p.Arg330=)
c.993+2836G= (n.993+2836G=)
c.782+3482G= (n.782+3482G=)
c.*117G= (n.*117G=)
c.*29G= (n.*29G=)
c.54-1009G=
c.893G= (p.Arg298=)
c.977G= (p.Arg326=)
c.533G= (p.Arg178=)
17g.7670699C>GCA000014TP53c.1010G>C (p.Arg337Pro)
c.614G>C (p.Arg205Pro)
c.731G>C (p.Arg244Pro)
c.989G>C (p.Arg330Pro)
c.993+2836G>C (n.993+2836G>C)
c.782+3482G>C (n.782+3482G>C)
c.*117G>C (n.*117G>C)
c.*29G>C (n.*29G>C)
c.54-1009G>C
c.893G>C (p.Arg298Pro)
c.977G>C (p.Arg326Pro)
c.533G>C (p.Arg178Pro)
ClinVar dbSNP COSMIC COSMIC
17g.7670699C>TCA000013TP53c.1010G>A (p.Arg337His)
c.614G>A (p.Arg205His)
c.731G>A (p.Arg244His)
c.989G>A (p.Arg330His)
c.993+2836G>A (n.993+2836G>A)
c.782+3482G>A (n.782+3482G>A)
c.*117G>A (n.*117G>A)
c.*29G>A (n.*29G>A)
c.54-1009G>A
c.893G>A (p.Arg298His)
c.977G>A (p.Arg326His)
c.533G>A (p.Arg178His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.7670702_7670707delCA2580094866TP53c.1005_1010del (p.Glu336_Arg337del)
c.609_614del (p.Glu204_Arg205del)
c.726_731del (p.Glu243_Arg244del)
c.984_989del (p.Glu329_Arg330del)
c.993+2831_993+2836del (n.993+2831_993+2836del)
c.782+3477_782+3482del (n.782+3477_782+3482del)
c.*112_*117del (n.*112_*117del)
c.*24_*29del (n.*24_*29del)
c.54-1014_54-1009del
c.888_893del (p.Glu297_Arg298del)
c.972_977del (p.Glu325_Arg326del)
c.528_533del (p.Glu177_Arg178del)
ClinVar
17g.7670700delCA497712612TP53c.1009del (p.Arg337AlafsTer8)
c.613del (p.Arg205AlafsTer8)
c.730del (p.Arg244AlafsTer8)
c.988del (p.Arg330AlafsTer8)
c.993+2835del (n.993+2835del)
c.782+3481del (n.782+3481del)
c.*116del (n.*116del)
c.*28del (n.*28del)
c.54-1010del
c.892del (p.Arg298AlafsTer8)
c.976del (p.Arg326AlafsTer8)
c.532del (p.Arg178AlafsTer8)
COSMIC COSMIC
17g.7670700G>ACA000010TP53c.1009C>T (p.Arg337Cys)
c.613C>T (p.Arg205Cys)
c.730C>T (p.Arg244Cys)
c.988C>T (p.Arg330Cys)
c.993+2835C>T (n.993+2835C>T)
c.782+3481C>T (n.782+3481C>T)
c.*116C>T (n.*116C>T)
c.*28C>T (n.*28C>T)
c.54-1010C>T
c.892C>T (p.Arg298Cys)
c.976C>T (p.Arg326Cys)
c.532C>T (p.Arg178Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.7670700G>CCA10583674TP53c.1009C>G (p.Arg337Gly)
c.613C>G (p.Arg205Gly)
c.730C>G (p.Arg244Gly)
c.988C>G (p.Arg330Gly)
c.993+2835C>G (n.993+2835C>G)
c.782+3481C>G (n.782+3481C>G)
c.*116C>G (n.*116C>G)
c.*28C>G (n.*28C>G)
c.54-1010C>G
c.892C>G (p.Arg298Gly)
c.976C>G (p.Arg326Gly)
c.532C>G (p.Arg178Gly)
ClinVar dbSNP COSMIC
17g.7670700G=CA2245943077TP53c.1009C= (p.Arg337=)
c.613C= (p.Arg205=)
c.730C= (p.Arg244=)
c.988C= (p.Arg330=)
c.993+2835C= (n.993+2835C=)
c.782+3481C= (n.782+3481C=)
c.*116C= (n.*116C=)
c.*28C= (n.*28C=)
c.54-1010C=
c.892C= (p.Arg298=)
c.976C= (p.Arg326=)
c.532C= (p.Arg178=)
17g.7670700G>TCA397832787TP53c.1009C>A (p.Arg337Ser)
c.613C>A (p.Arg205Ser)
c.730C>A (p.Arg244Ser)
c.988C>A (p.Arg330Ser)
c.993+2835C>A (n.993+2835C>A)
c.782+3481C>A (n.782+3481C>A)
c.*116C>A (n.*116C>A)
c.*28C>A (n.*28C>A)
c.54-1010C>A
c.892C>A (p.Arg298Ser)
c.976C>A (p.Arg326Ser)
c.532C>A (p.Arg178Ser)
ClinVar dbSNP COSMIC COSMIC
17g.7670700_7670706delCA645587325TP53c.1003_1009del (p.Arg335AlafsTer8)
c.607_613del (p.Arg203AlafsTer8)
c.724_730del (p.Arg242AlafsTer8)
c.982_988del (p.Arg328AlafsTer8)
c.993+2829_993+2835del (n.993+2829_993+2835del)
c.782+3475_782+3481del (n.782+3475_782+3481del)
c.*110_*116del (n.*110_*116del)
c.*22_*28del (n.*22_*28del)
c.54-1016_54-1010del
c.886_892del (p.Arg296AlafsTer8)
c.970_976del (p.Arg324AlafsTer8)
c.526_532del (p.Arg176AlafsTer8)
COSMIC COSMIC
17g.7670701C>ACA397832789TP53c.1008G>T (p.Glu336Asp)
c.612G>T (p.Glu204Asp)
c.729G>T (p.Glu243Asp)
c.987G>T (p.Glu329Asp)
c.993+2834G>T (n.993+2834G>T)
c.782+3480G>T (n.782+3480G>T)
c.*115G>T (n.*115G>T)
c.*27G>T (n.*27G>T)
c.54-1011G>T
c.891G>T (p.Glu297Asp)
c.975G>T (p.Glu325Asp)
c.531G>T (p.Glu177Asp)
17g.7670701C=CA2245943090TP53c.1008G= (p.Glu336=)
c.612G= (p.Glu204=)
c.729G= (p.Glu243=)
c.987G= (p.Glu329=)
c.993+2834G= (n.993+2834G=)
c.782+3480G= (n.782+3480G=)
c.*115G= (n.*115G=)
c.*27G= (n.*27G=)
c.54-1011G=
c.891G= (p.Glu297=)
c.975G= (p.Glu325=)
c.531G= (p.Glu177=)
17g.7670701C>GCA397832794TP53c.1008G>C (p.Glu336Asp)
c.612G>C (p.Glu204Asp)
c.729G>C (p.Glu243Asp)
c.987G>C (p.Glu329Asp)
c.993+2834G>C (n.993+2834G>C)
c.782+3480G>C (n.782+3480G>C)
c.*115G>C (n.*115G>C)
c.*27G>C (n.*27G>C)
c.54-1011G>C
c.891G>C (p.Glu297Asp)
c.975G>C (p.Glu325Asp)
c.531G>C (p.Glu177Asp)
dbSNP
17g.7670701C>TCA497712613TP53c.1008G>A (p.Glu336=)
c.612G>A (p.Glu204=)
c.729G>A (p.Glu243=)
c.987G>A (p.Glu329=)
c.993+2834G>A (n.993+2834G>A)
c.782+3480G>A (n.782+3480G>A)
c.*115G>A (n.*115G>A)
c.*27G>A (n.*27G>A)
c.54-1011G>A
c.891G>A (p.Glu297=)
c.975G>A (p.Glu325=)
c.531G>A (p.Glu177=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7670701_7670702insCACGCCCA645587326TP53c.1008_1009insGCGTGG (p.Glu336_Arg337insAlaTrp)
c.612_613insGCGTGG (p.Glu204_Arg205insAlaTrp)
c.729_730insGCGTGG (p.Glu243_Arg244insAlaTrp)
c.987_988insGCGTGG (p.Glu329_Arg330insAlaTrp)
c.993+2834_993+2835insGCGTGG (n.993+2834_993+2835insGCGTGG)
c.782+3480_782+3481insGCGTGG (n.782+3480_782+3481insGCGTGG)
c.*115_*116insGCGTGG (n.*115_*116insGCGTGG)
c.*27_*28insGCGTGG (n.*27_*28insGCGTGG)
c.54-1011_54-1010insGCGTGG
c.891_892insGCGTGG (p.Glu297_Arg298insAlaTrp)
c.975_976insGCGTGG (p.Glu325_Arg326insAlaTrp)
c.531_532insGCGTGG (p.Glu177_Arg178insAlaTrp)
COSMIC COSMIC
17g.7670702_7670703dupCA2697559390TP53c.1007_1008dup (p.Arg337SerfsTer9)
c.611_612dup (p.Arg205SerfsTer9)
c.728_729dup (p.Arg244SerfsTer9)
c.986_987dup (p.Arg330SerfsTer9)
c.993+2833_993+2834dup (n.993+2833_993+2834dup)
c.782+3479_782+3480dup (n.782+3479_782+3480dup)
c.*114_*115dup (n.*114_*115dup)
c.*26_*27dup (n.*26_*27dup)
c.54-1012_54-1011dup
c.890_891dup (p.Arg298SerfsTer9)
c.974_975dup (p.Arg326SerfsTer9)
c.530_531dup (p.Arg178SerfsTer9)
ClinVar
17g.7670702T>ACA397832795TP53c.1007A>T (p.Glu336Val)
c.611A>T (p.Glu204Val)
c.728A>T (p.Glu243Val)
c.986A>T (p.Glu329Val)
c.993+2833A>T (n.993+2833A>T)
c.782+3479A>T (n.782+3479A>T)
c.*114A>T (n.*114A>T)
c.*26A>T (n.*26A>T)
c.54-1012A>T
c.890A>T (p.Glu297Val)
c.974A>T (p.Glu325Val)
c.530A>T (p.Glu177Val)
dbSNP
17g.7670702T>CCA397832796TP53c.1007A>G (p.Glu336Gly)
c.611A>G (p.Glu204Gly)
c.728A>G (p.Glu243Gly)
c.986A>G (p.Glu329Gly)
c.993+2833A>G (n.993+2833A>G)
c.782+3479A>G (n.782+3479A>G)
c.*114A>G (n.*114A>G)
c.*26A>G (n.*26A>G)
c.54-1012A>G
c.890A>G (p.Glu297Gly)
c.974A>G (p.Glu325Gly)
c.530A>G (p.Glu177Gly)
dbSNP
17g.7670702T>GCA397832797TP53c.1007A>C (p.Glu336Ala)
c.611A>C (p.Glu204Ala)
c.728A>C (p.Glu243Ala)
c.986A>C (p.Glu329Ala)
c.993+2833A>C (n.993+2833A>C)
c.782+3479A>C (n.782+3479A>C)
c.*114A>C (n.*114A>C)
c.*26A>C (n.*26A>C)
c.54-1012A>C
c.890A>C (p.Glu297Ala)
c.974A>C (p.Glu325Ala)
c.530A>C (p.Glu177Ala)
gnomAD v4
17g.7670703delCA645587328TP53c.1006del (p.Glu336SerfsTer9)
c.610del (p.Glu204SerfsTer9)
c.727del (p.Glu243SerfsTer9)
c.985del (p.Glu329SerfsTer9)
c.993+2832del (n.993+2832del)
c.782+3478del (n.782+3478del)
c.*113del (n.*113del)
c.*25del (n.*25del)
c.54-1013del
c.889del (p.Glu297SerfsTer9)
c.973del (p.Glu325SerfsTer9)
c.529del (p.Glu177SerfsTer9)
COSMIC COSMIC
17g.7670703C>ACA397832798TP53c.1006G>T (p.Glu336Ter)
c.610G>T (p.Glu204Ter)
c.727G>T (p.Glu243Ter)
c.985G>T (p.Glu329Ter)
c.993+2832G>T (n.993+2832G>T)
c.782+3478G>T (n.782+3478G>T)
c.*113G>T (n.*113G>T)
c.*25G>T (n.*25G>T)
c.54-1013G>T
c.889G>T (p.Glu297Ter)
c.973G>T (p.Glu325Ter)
c.529G>T (p.Glu177Ter)
dbSNP COSMIC COSMIC
17g.7670703C>GCA397832800TP53c.1006G>C (p.Glu336Gln)
c.610G>C (p.Glu204Gln)
c.727G>C (p.Glu243Gln)
c.985G>C (p.Glu329Gln)
c.993+2832G>C (n.993+2832G>C)
c.782+3478G>C (n.782+3478G>C)
c.*113G>C (n.*113G>C)
c.*25G>C (n.*25G>C)
c.54-1013G>C
c.889G>C (p.Glu297Gln)
c.973G>C (p.Glu325Gln)
c.529G>C (p.Glu177Gln)
ClinVar dbSNP
17g.7670703C>TCA397832812TP53c.1006G>A (p.Glu336Lys)
c.610G>A (p.Glu204Lys)
c.727G>A (p.Glu243Lys)
c.985G>A (p.Glu329Lys)
c.993+2832G>A (n.993+2832G>A)
c.782+3478G>A (n.782+3478G>A)
c.*113G>A (n.*113G>A)
c.*25G>A (n.*25G>A)
c.54-1013G>A
c.889G>A (p.Glu297Lys)
c.973G>A (p.Glu325Lys)
c.529G>A (p.Glu177Lys)
dbSNP COSMIC
17g.7670704_7670705delCA645587327TP53c.1005_1006del (p.Glu336AlafsTer10)
c.609_610del (p.Glu204AlafsTer10)
c.726_727del (p.Glu243AlafsTer10)
c.984_985del (p.Glu329AlafsTer10)
c.993+2831_993+2832del (n.993+2831_993+2832del)
c.782+3477_782+3478del (n.782+3477_782+3478del)
c.*112_*113del (n.*112_*113del)
c.*24_*25del (n.*24_*25del)
c.54-1014_54-1013del
c.888_889del (p.Glu297AlafsTer10)
c.972_973del (p.Glu325AlafsTer10)
c.528_529del (p.Glu177AlafsTer10)
COSMIC COSMIC
17g.7670707_7670712dupCA2695224216TP53c.1001_1006dup (p.Arg335_Glu336insGlyArg)
c.605_610dup (p.Arg203_Glu204insGlyArg)
c.722_727dup (p.Arg242_Glu243insGlyArg)
c.980_985dup (p.Arg328_Glu329insGlyArg)
c.993+2827_993+2832dup (n.993+2827_993+2832dup)
c.782+3473_782+3478dup (n.782+3473_782+3478dup)
c.*108_*113dup (n.*108_*113dup)
c.*20_*25dup (n.*20_*25dup)
c.54-1018_54-1013dup
c.884_889dup (p.Arg296_Glu297insGlyArg)
c.968_973dup (p.Arg324_Glu325insGlyArg)
c.524_529dup (p.Arg176_Glu177insGlyArg)
17g.7670707_7670712delCA2580094867TP53c.1001_1006del (p.Gly334_Arg335del)
c.605_610del (p.Gly202_Arg203del)
c.722_727del (p.Gly241_Arg242del)
c.980_985del (p.Gly327_Arg328del)
c.993+2827_993+2832del (n.993+2827_993+2832del)
c.782+3473_782+3478del (n.782+3473_782+3478del)
c.*108_*113del (n.*108_*113del)
c.*20_*25del (n.*20_*25del)
c.54-1018_54-1013del
c.884_889del (p.Gly295_Arg296del)
c.968_973del (p.Gly323_Arg324del)
c.524_529del (p.Gly175_Arg176del)
ClinVar
17g.7670704A>CCA497712614TP53c.1005T>G (p.Arg335=)
c.609T>G (p.Arg203=)
c.726T>G (p.Arg242=)
c.984T>G (p.Arg328=)
c.993+2831T>G (n.993+2831T>G)
c.782+3477T>G (n.782+3477T>G)
c.*112T>G (n.*112T>G)
c.*24T>G (n.*24T>G)
c.54-1014T>G
c.888T>G (p.Arg296=)
c.972T>G (p.Arg324=)
c.528T>G (p.Arg176=)
ClinVar dbSNP gnomAD v4
17g.7670704A>GCA497712615TP53c.1005T>C (p.Arg335=)
c.609T>C (p.Arg203=)
c.726T>C (p.Arg242=)
c.984T>C (p.Arg328=)
c.993+2831T>C (n.993+2831T>C)
c.782+3477T>C (n.782+3477T>C)
c.*112T>C (n.*112T>C)
c.*24T>C (n.*24T>C)
c.54-1014T>C
c.888T>C (p.Arg296=)
c.972T>C (p.Arg324=)
c.528T>C (p.Arg176=)
17g.7670704A>TCA497712616TP53c.1005T>A (p.Arg335=)
c.609T>A (p.Arg203=)
c.726T>A (p.Arg242=)
c.984T>A (p.Arg328=)
c.993+2831T>A (n.993+2831T>A)
c.782+3477T>A (n.782+3477T>A)
c.*112T>A (n.*112T>A)
c.*24T>A (n.*24T>A)
c.54-1014T>A
c.888T>A (p.Arg296=)
c.972T>A (p.Arg324=)
c.528T>A (p.Arg176=)
dbSNP
17g.7670705delCA497712617TP53c.1004del (p.Arg335LeufsTer10)
c.608del (p.Arg203LeufsTer10)
c.725del (p.Arg242LeufsTer10)
c.983del (p.Arg328LeufsTer10)
c.993+2830del (n.993+2830del)
c.782+3476del (n.782+3476del)
c.*111del (n.*111del)
c.*23del (n.*23del)
c.54-1015del
c.887del (p.Arg296LeufsTer10)
c.971del (p.Arg324LeufsTer10)
c.527del (p.Arg176LeufsTer10)
COSMIC COSMIC
17g.7670705C>ACA397832844TP53c.1004G>T (p.Arg335Leu)
c.608G>T (p.Arg203Leu)
c.725G>T (p.Arg242Leu)
c.983G>T (p.Arg328Leu)
c.993+2830G>T (n.993+2830G>T)
c.782+3476G>T (n.782+3476G>T)
c.*111G>T (n.*111G>T)
c.*23G>T (n.*23G>T)
c.54-1015G>T
c.887G>T (p.Arg296Leu)
c.971G>T (p.Arg324Leu)
c.527G>T (p.Arg176Leu)
dbSNP COSMIC COSMIC
17g.7670705C=CA2245943099TP53c.1004G= (p.Arg335=)
c.608G= (p.Arg203=)
c.725G= (p.Arg242=)
c.983G= (p.Arg328=)
c.993+2830G= (n.993+2830G=)
c.782+3476G= (n.782+3476G=)
c.*111G= (n.*111G=)
c.*23G= (n.*23G=)
c.54-1015G=
c.887G= (p.Arg296=)
c.971G= (p.Arg324=)
c.527G= (p.Arg176=)
17g.7670705C>GCA397832837TP53c.1004G>C (p.Arg335Pro)
c.608G>C (p.Arg203Pro)
c.725G>C (p.Arg242Pro)
c.983G>C (p.Arg328Pro)
c.993+2830G>C (n.993+2830G>C)
c.782+3476G>C (n.782+3476G>C)
c.*111G>C (n.*111G>C)
c.*23G>C (n.*23G>C)
c.54-1015G>C
c.887G>C (p.Arg296Pro)
c.971G>C (p.Arg324Pro)
c.527G>C (p.Arg176Pro)
ClinVar dbSNP
17g.7670705C>TCA000869TP53c.1004G>A (p.Arg335His)
c.608G>A (p.Arg203His)
c.725G>A (p.Arg242His)
c.983G>A (p.Arg328His)
c.993+2830G>A (n.993+2830G>A)
c.782+3476G>A (n.782+3476G>A)
c.*111G>A (n.*111G>A)
c.*23G>A (n.*23G>A)
c.54-1015G>A
c.887G>A (p.Arg296His)
c.971G>A (p.Arg324His)
c.527G>A (p.Arg176His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7670706_7670707delCA891842220TP53c.1003_1004del (p.Arg335Ter)
c.607_608del (p.Arg203Ter)
c.724_725del (p.Arg242Ter)
c.982_983del (p.Arg328Ter)
c.993+2829_993+2830del (n.993+2829_993+2830del)
c.782+3475_782+3476del (n.782+3475_782+3476del)
c.*110_*111del (n.*110_*111del)
c.*22_*23del (n.*22_*23del)
c.54-1016_54-1015del
c.886_887del (p.Arg296Ter)
c.970_971del (p.Arg324Ter)
c.526_527del (p.Arg176Ter)
17g.7670705_7670737delinsCGCCCACGGATCTGCAGCAACAGAGGAGGGGGACA2245943102TP53c.994-22_1004delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
c.598-22_608delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
c.715-22_725delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
c.973-22_983delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
c.993+2798_993+2830delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG (n.993+2798_993+2830delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG)
c.782+3444_782+3476delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG (n.782+3444_782+3476delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG)
c.*101-22_*111delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
c.*13-22_*23delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
c.54-1047_54-1015delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
c.877-22_887delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
c.961-22_971delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
c.517-22_527delinsTCCCCCTCCTCTGTTGCTGCAGATCCGTGGGCG
17g.7670705_7670706insTCA645587329TP53c.1003_1004insA (p.Arg335GlnfsTer2)
c.607_608insA (p.Arg203GlnfsTer2)
c.724_725insA (p.Arg242GlnfsTer2)
c.982_983insA (p.Arg328GlnfsTer2)
c.993+2829_993+2830insA (n.993+2829_993+2830insA)
c.782+3475_782+3476insA (n.782+3475_782+3476insA)
c.*110_*111insA (n.*110_*111insA)
c.*22_*23insA (n.*22_*23insA)
c.54-1016_54-1015insA
c.886_887insA (p.Arg296GlnfsTer2)
c.970_971insA (p.Arg324GlnfsTer2)
c.526_527insA (p.Arg176GlnfsTer2)
COSMIC COSMIC
17g.7670706G>ACA000009TP53c.1003C>T (p.Arg335Cys)
c.607C>T (p.Arg203Cys)
c.724C>T (p.Arg242Cys)
c.982C>T (p.Arg328Cys)
c.993+2829C>T (n.993+2829C>T)
c.782+3475C>T (n.782+3475C>T)
c.*110C>T (n.*110C>T)
c.*22C>T (n.*22C>T)
c.54-1016C>T
c.886C>T (p.Arg296Cys)
c.970C>T (p.Arg324Cys)
c.526C>T (p.Arg176Cys)
ClinVar dbSNP gnomAD v4
17g.7670706G>CCA397832857TP53c.1003C>G (p.Arg335Gly)
c.607C>G (p.Arg203Gly)
c.724C>G (p.Arg242Gly)
c.982C>G (p.Arg328Gly)
c.993+2829C>G (n.993+2829C>G)
c.782+3475C>G (n.782+3475C>G)
c.*110C>G (n.*110C>G)
c.*22C>G (n.*22C>G)
c.54-1016C>G
c.886C>G (p.Arg296Gly)
c.970C>G (p.Arg324Gly)
c.526C>G (p.Arg176Gly)
dbSNP
17g.7670706G=CA2245943127TP53c.1003C= (p.Arg335=)
c.607C= (p.Arg203=)
c.724C= (p.Arg242=)
c.982C= (p.Arg328=)
c.993+2829C= (n.993+2829C=)
c.782+3475C= (n.782+3475C=)
c.*110C= (n.*110C=)
c.*22C= (n.*22C=)
c.54-1016C=
c.886C= (p.Arg296=)
c.970C= (p.Arg324=)
c.526C= (p.Arg176=)
17g.7670706G>TCA397832858TP53c.1003C>A (p.Arg335Ser)
c.607C>A (p.Arg203Ser)
c.724C>A (p.Arg242Ser)
c.982C>A (p.Arg328Ser)
c.993+2829C>A (n.993+2829C>A)
c.782+3475C>A (n.782+3475C>A)
c.*110C>A (n.*110C>A)
c.*22C>A (n.*22C>A)
c.54-1016C>A
c.886C>A (p.Arg296Ser)
c.970C>A (p.Arg324Ser)
c.526C>A (p.Arg176Ser)
17g.7670708_7670719delCA891842222TP53c.994-2_1003del
c.598-2_607del
c.715-2_724del
c.973-2_982del
c.993+2818_993+2829del (n.993+2818_993+2829del)
c.782+3464_782+3475del (n.782+3464_782+3475del)
c.*101-2_*110del
c.*13-2_*22del
c.54-1027_54-1016del
c.877-2_886del
c.961-2_970del
c.517-2_526del
17g.7670707_7670738delCA913190574TP53c.994-22_1003del
c.598-22_607del
c.715-22_724del
c.973-22_982del
c.993+2798_993+2829del (n.993+2798_993+2829del)
c.782+3444_782+3475del (n.782+3444_782+3475del)
c.*101-22_*110del
c.*13-22_*22del
c.54-1047_54-1016del
c.877-22_886del
c.961-22_970del
c.517-22_526del
ClinVar dbSNP
17g.7670706_7670707insACA497712619TP53c.1002_1003insT (p.Arg335SerfsTer2)
c.606_607insT (p.Arg203SerfsTer2)
c.723_724insT (p.Arg242SerfsTer2)
c.981_982insT (p.Arg328SerfsTer2)
c.993+2828_993+2829insT (n.993+2828_993+2829insT)
c.782+3474_782+3475insT (n.782+3474_782+3475insT)
c.*109_*110insT (n.*109_*110insT)
c.*21_*22insT (n.*21_*22insT)
c.54-1017_54-1016insT
c.885_886insT (p.Arg296SerfsTer2)
c.969_970insT (p.Arg324SerfsTer2)
c.525_526insT (p.Arg176SerfsTer2)
17g.7670707C>ACA497712620TP53c.1002G>T (p.Gly334=)
c.606G>T (p.Gly202=)
c.723G>T (p.Gly241=)
c.981G>T (p.Gly327=)
c.993+2828G>T (n.993+2828G>T)
c.782+3474G>T (n.782+3474G>T)
c.*109G>T (n.*109G>T)
c.*21G>T (n.*21G>T)
c.54-1017G>T
c.885G>T (p.Gly295=)
c.969G>T (p.Gly323=)
c.525G>T (p.Gly175=)
dbSNP
17g.7670707C=CA2245943143TP53c.1002G= (p.Gly334=)
c.606G= (p.Gly202=)
c.723G= (p.Gly241=)
c.981G= (p.Gly327=)
c.993+2828G= (n.993+2828G=)
c.782+3474G= (n.782+3474G=)
c.*109G= (n.*109G=)
c.*21G= (n.*21G=)
c.54-1017G=
c.885G= (p.Gly295=)
c.969G= (p.Gly323=)
c.525G= (p.Gly175=)
17g.7670707C>GCA497712618TP53c.1002G>C (p.Gly334=)
c.606G>C (p.Gly202=)
c.723G>C (p.Gly241=)
c.981G>C (p.Gly327=)
c.993+2828G>C (n.993+2828G>C)
c.782+3474G>C (n.782+3474G>C)
c.*109G>C (n.*109G>C)
c.*21G>C (n.*21G>C)
c.54-1017G>C
c.885G>C (p.Gly295=)
c.969G>C (p.Gly323=)
c.525G>C (p.Gly175=)
17g.7670707C>TCA000008TP53c.1002G>A (p.Gly334=)
c.606G>A (p.Gly202=)
c.723G>A (p.Gly241=)
c.981G>A (p.Gly327=)
c.993+2828G>A (n.993+2828G>A)
c.782+3474G>A (n.782+3474G>A)
c.*109G>A (n.*109G>A)
c.*21G>A (n.*21G>A)
c.54-1017G>A
c.885G>A (p.Gly295=)
c.969G>A (p.Gly323=)
c.525G>A (p.Gly175=)
ClinVar dbSNP
17g.7670708C>ACA397832861TP53c.1001G>T (p.Gly334Val)
c.605G>T (p.Gly202Val)
c.722G>T (p.Gly241Val)
c.980G>T (p.Gly327Val)
c.993+2827G>T (n.993+2827G>T)
c.782+3473G>T (n.782+3473G>T)
c.*108G>T (n.*108G>T)
c.*20G>T (n.*20G>T)
c.54-1018G>T
c.884G>T (p.Gly295Val)
c.968G>T (p.Gly323Val)
c.524G>T (p.Gly175Val)
dbSNP COSMIC COSMIC
17g.7670708C=CA2245943153TP53c.1001G= (p.Gly334=)
c.605G= (p.Gly202=)
c.722G= (p.Gly241=)
c.980G= (p.Gly327=)
c.993+2827G= (n.993+2827G=)
c.782+3473G= (n.782+3473G=)
c.*108G= (n.*108G=)
c.*20G= (n.*20G=)
c.54-1018G=
c.884G= (p.Gly295=)
c.968G= (p.Gly323=)
c.524G= (p.Gly175=)
17g.7670708C>GCA397832868TP53c.1001G>C (p.Gly334Ala)
c.605G>C (p.Gly202Ala)
c.722G>C (p.Gly241Ala)
c.980G>C (p.Gly327Ala)
c.993+2827G>C (n.993+2827G>C)
c.782+3473G>C (n.782+3473G>C)
c.*108G>C (n.*108G>C)
c.*20G>C (n.*20G>C)
c.54-1018G>C
c.884G>C (p.Gly295Ala)
c.968G>C (p.Gly323Ala)
c.524G>C (p.Gly175Ala)
COSMIC COSMIC
17g.7670708C>TCA397832871TP53c.1001G>A (p.Gly334Glu)
c.605G>A (p.Gly202Glu)
c.722G>A (p.Gly241Glu)
c.980G>A (p.Gly327Glu)
c.993+2827G>A (n.993+2827G>A)
c.782+3473G>A (n.782+3473G>A)
c.*108G>A (n.*108G>A)
c.*20G>A (n.*20G>A)
c.54-1018G>A
c.884G>A (p.Gly295Glu)
c.968G>A (p.Gly323Glu)
c.524G>A (p.Gly175Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7670709C>ACA397832878TP53c.1000G>T (p.Gly334Trp)
c.604G>T (p.Gly202Trp)
c.721G>T (p.Gly241Trp)
c.979G>T (p.Gly327Trp)
c.993+2826G>T (n.993+2826G>T)
c.782+3472G>T (n.782+3472G>T)
c.*107G>T (n.*107G>T)
c.*19G>T (n.*19G>T)
c.54-1019G>T
c.883G>T (p.Gly295Trp)
c.967G>T (p.Gly323Trp)
c.523G>T (p.Gly175Trp)
ClinVar dbSNP COSMIC COSMIC
17g.7670709C=CA2245943162TP53c.1000G= (p.Gly334=)
c.604G= (p.Gly202=)
c.721G= (p.Gly241=)
c.979G= (p.Gly327=)
c.993+2826G= (n.993+2826G=)
c.782+3472G= (n.782+3472G=)
c.*107G= (n.*107G=)
c.*19G= (n.*19G=)
c.54-1019G=
c.883G= (p.Gly295=)
c.967G= (p.Gly323=)
c.523G= (p.Gly175=)
17g.7670709C>GCA000007TP53c.1000G>C (p.Gly334Arg)
c.604G>C (p.Gly202Arg)
c.721G>C (p.Gly241Arg)
c.979G>C (p.Gly327Arg)
c.993+2826G>C (n.993+2826G>C)
c.782+3472G>C (n.782+3472G>C)
c.*107G>C (n.*107G>C)
c.*19G>C (n.*19G>C)
c.54-1019G>C
c.883G>C (p.Gly295Arg)
c.967G>C (p.Gly323Arg)
c.523G>C (p.Gly175Arg)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17g.7670709C>TCA000006TP53c.1000G>A (p.Gly334Arg)
c.604G>A (p.Gly202Arg)
c.721G>A (p.Gly241Arg)
c.979G>A (p.Gly327Arg)
c.993+2826G>A (n.993+2826G>A)
c.782+3472G>A (n.782+3472G>A)
c.*107G>A (n.*107G>A)
c.*19G>A (n.*19G>A)
c.54-1019G>A
c.883G>A (p.Gly295Arg)
c.967G>A (p.Gly323Arg)
c.523G>A (p.Gly175Arg)
ClinVar dbSNP gnomAD v4
17g.7670710_7670711dupCA645587330TP53c.999_1000dup (p.Gly334ValfsTer12)
c.603_604dup (p.Gly202ValfsTer12)
c.720_721dup (p.Gly241ValfsTer12)
c.978_979dup (p.Gly327ValfsTer12)
c.993+2825_993+2826dup (n.993+2825_993+2826dup)
c.782+3471_782+3472dup (n.782+3471_782+3472dup)
c.*106_*107dup (n.*106_*107dup)
c.*18_*19dup (n.*18_*19dup)
c.54-1020_54-1019dup
c.882_883dup (p.Gly295ValfsTer12)
c.966_967dup (p.Gly323ValfsTer12)
c.522_523dup (p.Gly175ValfsTer12)
COSMIC COSMIC
17g.7670710A>CCA497712621TP53c.999T>G (p.Arg333=)
c.603T>G (p.Arg201=)
c.720T>G (p.Arg240=)
c.978T>G (p.Arg326=)
c.993+2825T>G (n.993+2825T>G)
c.782+3471T>G (n.782+3471T>G)
c.*106T>G (n.*106T>G)
c.*18T>G (n.*18T>G)
c.54-1020T>G
c.882T>G (p.Arg294=)
c.966T>G (p.Arg322=)
c.522T>G (p.Arg174=)
dbSNP
17g.7670710A>GCA497712622TP53c.999T>C (p.Arg333=)
c.603T>C (p.Arg201=)
c.720T>C (p.Arg240=)
c.978T>C (p.Arg326=)
c.993+2825T>C (n.993+2825T>C)
c.782+3471T>C (n.782+3471T>C)
c.*106T>C (n.*106T>C)
c.*18T>C (n.*18T>C)
c.54-1020T>C
c.882T>C (p.Arg294=)
c.966T>C (p.Arg322=)
c.522T>C (p.Arg174=)
17g.7670710A>TCA497712623TP53c.999T>A (p.Arg333=)
c.603T>A (p.Arg201=)
c.720T>A (p.Arg240=)
c.978T>A (p.Arg326=)
c.993+2825T>A (n.993+2825T>A)
c.782+3471T>A (n.782+3471T>A)
c.*106T>A (n.*106T>A)
c.*18T>A (n.*18T>A)
c.54-1020T>A
c.882T>A (p.Arg294=)
c.966T>A (p.Arg322=)
c.522T>A (p.Arg174=)
dbSNP
17g.7670711C>ACA397832914TP53c.998G>T (p.Arg333Leu)
c.602G>T (p.Arg201Leu)
c.719G>T (p.Arg240Leu)
c.977G>T (p.Arg326Leu)
c.993+2824G>T (n.993+2824G>T)
c.782+3470G>T (n.782+3470G>T)
c.*105G>T (n.*105G>T)
c.*17G>T (n.*17G>T)
c.54-1021G>T
c.881G>T (p.Arg294Leu)
c.965G>T (p.Arg322Leu)
c.521G>T (p.Arg174Leu)
dbSNP
17g.7670711C=CA2245943187TP53c.998G= (p.Arg333=)
c.602G= (p.Arg201=)
c.719G= (p.Arg240=)
c.977G= (p.Arg326=)
c.993+2824G= (n.993+2824G=)
c.782+3470G= (n.782+3470G=)
c.*105G= (n.*105G=)
c.*17G= (n.*17G=)
c.54-1021G=
c.881G= (p.Arg294=)
c.965G= (p.Arg322=)
c.521G= (p.Arg174=)
17g.7670711C>GCA397832915TP53c.998G>C (p.Arg333Pro)
c.602G>C (p.Arg201Pro)
c.719G>C (p.Arg240Pro)
c.977G>C (p.Arg326Pro)
c.993+2824G>C (n.993+2824G>C)
c.782+3470G>C (n.782+3470G>C)
c.*105G>C (n.*105G>C)
c.*17G>C (n.*17G>C)
c.54-1021G>C
c.881G>C (p.Arg294Pro)
c.965G>C (p.Arg322Pro)
c.521G>C (p.Arg174Pro)
dbSNP COSMIC COSMIC
17g.7670711C>TCA000533TP53c.998G>A (p.Arg333His)
c.602G>A (p.Arg201His)
c.719G>A (p.Arg240His)
c.977G>A (p.Arg326His)
c.993+2824G>A (n.993+2824G>A)
c.782+3470G>A (n.782+3470G>A)
c.*105G>A (n.*105G>A)
c.*17G>A (n.*17G>A)
c.54-1021G>A
c.881G>A (p.Arg294His)
c.965G>A (p.Arg322His)
c.521G>A (p.Arg174His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.7670711_7670713delinsCGGCA2245943181TP53c.996_998delinsCCG (p.Ile332=)
c.600_602delinsCCG (p.Ile200=)
c.717_719delinsCCG (p.Ile239=)
c.975_977delinsCCG (p.Ile325=)
c.993+2822_993+2824delinsCCG (n.993+2822_993+2824delinsCCG)
c.782+3468_782+3470delinsCCG (n.782+3468_782+3470delinsCCG)
c.*103_*105delinsCCG (n.*103_*105delinsCCG)
c.*15_*17delinsCCG (n.*15_*17delinsCCG)
c.54-1023_54-1021delinsCCG
c.879_881delinsCCG (p.Ile293=)
c.963_965delinsCCG (p.Ile321=)
c.519_521delinsCCG (p.Ile173=)
17g.7670712G>ACA000530TP53c.997C>T (p.Arg333Cys)
c.601C>T (p.Arg201Cys)
c.718C>T (p.Arg240Cys)
c.976C>T (p.Arg326Cys)
c.993+2823C>T (n.993+2823C>T)
c.782+3469C>T (n.782+3469C>T)
c.*104C>T (n.*104C>T)
c.*16C>T (n.*16C>T)
c.54-1022C>T
c.880C>T (p.Arg294Cys)
c.964C>T (p.Arg322Cys)
c.520C>T (p.Arg174Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.7670712G>CCA000888TP53c.997C>G (p.Arg333Gly)
c.601C>G (p.Arg201Gly)
c.718C>G (p.Arg240Gly)
c.976C>G (p.Arg326Gly)
c.993+2823C>G (n.993+2823C>G)
c.782+3469C>G (n.782+3469C>G)
c.*104C>G (n.*104C>G)
c.*16C>G (n.*16C>G)
c.54-1022C>G
c.880C>G (p.Arg294Gly)
c.964C>G (p.Arg322Gly)
c.520C>G (p.Arg174Gly)
dbSNP ExAC gnomAD v2
17g.7670712G=CA2245943203TP53c.997C= (p.Arg333=)
c.601C= (p.Arg201=)
c.718C= (p.Arg240=)
c.976C= (p.Arg326=)
c.993+2823C= (n.993+2823C=)
c.782+3469C= (n.782+3469C=)
c.*104C= (n.*104C=)
c.*16C= (n.*16C=)
c.54-1022C=
c.880C= (p.Arg294=)
c.964C= (p.Arg322=)
c.520C= (p.Arg174=)
17g.7670712G>TCA10590126TP53c.997C>A (p.Arg333Ser)
c.601C>A (p.Arg201Ser)
c.718C>A (p.Arg240Ser)
c.976C>A (p.Arg326Ser)
c.993+2823C>A (n.993+2823C>A)
c.782+3469C>A (n.782+3469C>A)
c.*104C>A (n.*104C>A)
c.*16C>A (n.*16C>A)
c.54-1022C>A
c.880C>A (p.Arg294Ser)
c.964C>A (p.Arg322Ser)
c.520C>A (p.Arg174Ser)
17g.7670712_7670713delCA913190575TP53c.996_997del (p.Ile332MetfsTer4)
c.600_601del (p.Ile200MetfsTer4)
c.717_718del (p.Ile239MetfsTer4)
c.975_976del (p.Ile325MetfsTer4)
c.993+2822_993+2823del (n.993+2822_993+2823del)
c.782+3468_782+3469del (n.782+3468_782+3469del)
c.*103_*104del (n.*103_*104del)
c.*15_*16del (n.*15_*16del)
c.54-1023_54-1022del
c.879_880del (p.Ile293MetfsTer4)
c.963_964del (p.Ile321MetfsTer4)
c.519_520del (p.Ile173MetfsTer4)
ClinVar dbSNP
17g.7670713dupCA645587331TP53c.997dup (p.Arg333ProfsTer4)
c.601dup (p.Arg201ProfsTer4)
c.718dup (p.Arg240ProfsTer4)
c.976dup (p.Arg326ProfsTer4)
c.993+2823dup (n.993+2823dup)
c.782+3469dup (n.782+3469dup)
c.*104dup (n.*104dup)
c.*16dup (n.*16dup)
c.54-1022dup
c.880dup (p.Arg294ProfsTer4)
c.964dup (p.Arg322ProfsTer4)
c.520dup (p.Arg174ProfsTer4)
COSMIC
17g.7670713delCA497712624TP53c.997del (p.Arg333ValfsTer12)
c.601del (p.Arg201ValfsTer12)
c.718del (p.Arg240ValfsTer12)
c.976del (p.Arg326ValfsTer12)
c.993+2823del (n.993+2823del)
c.782+3469del (n.782+3469del)
c.*104del (n.*104del)
c.*16del (n.*16del)
c.54-1022del
c.880del (p.Arg294ValfsTer12)
c.964del (p.Arg322ValfsTer12)
c.520del (p.Arg174ValfsTer12)
ClinVar COSMIC COSMIC
17g.7670713G>ACA497712625TP53c.996C>T (p.Ile332=)
c.600C>T (p.Ile200=)
c.717C>T (p.Ile239=)
c.975C>T (p.Ile325=)
c.993+2822C>T (n.993+2822C>T)
c.782+3468C>T (n.782+3468C>T)
c.*103C>T (n.*103C>T)
c.*15C>T (n.*15C>T)
c.54-1023C>T
c.879C>T (p.Ile293=)
c.963C>T (p.Ile321=)
c.519C>T (p.Ile173=)
ClinVar dbSNP COSMIC COSMIC
17g.7670713G>CCA397832931TP53c.996C>G (p.Ile332Met)
c.600C>G (p.Ile200Met)
c.717C>G (p.Ile239Met)
c.975C>G (p.Ile325Met)
c.993+2822C>G (n.993+2822C>G)
c.782+3468C>G (n.782+3468C>G)
c.*103C>G (n.*103C>G)
c.*15C>G (n.*15C>G)
c.54-1023C>G
c.879C>G (p.Ile293Met)
c.963C>G (p.Ile321Met)
c.519C>G (p.Ile173Met)
ClinVar dbSNP
17g.7670713G=CA2245943220TP53c.996C= (p.Ile332=)
c.600C= (p.Ile200=)
c.717C= (p.Ile239=)
c.975C= (p.Ile325=)
c.993+2822C= (n.993+2822C=)
c.782+3468C= (n.782+3468C=)
c.*103C= (n.*103C=)
c.*15C= (n.*15C=)
c.54-1023C=
c.879C= (p.Ile293=)
c.963C= (p.Ile321=)
c.519C= (p.Ile173=)
17g.7670713G>TCA497712626TP53c.996C>A (p.Ile332=)
c.600C>A (p.Ile200=)
c.717C>A (p.Ile239=)
c.975C>A (p.Ile325=)
c.993+2822C>A (n.993+2822C>A)
c.782+3468C>A (n.782+3468C>A)
c.*103C>A (n.*103C>A)
c.*15C>A (n.*15C>A)
c.54-1023C>A
c.879C>A (p.Ile293=)
c.963C>A (p.Ile321=)
c.519C>A (p.Ile173=)
dbSNP
17g.7670714A>CCA397832972TP53c.995T>G (p.Ile332Ser)
c.599T>G (p.Ile200Ser)
c.716T>G (p.Ile239Ser)
c.974T>G (p.Ile325Ser)
c.993+2821T>G (n.993+2821T>G)
c.782+3467T>G (n.782+3467T>G)
c.*102T>G (n.*102T>G)
c.*14T>G (n.*14T>G)
c.54-1024T>G
c.878T>G (p.Ile293Ser)
c.962T>G (p.Ile321Ser)
c.518T>G (p.Ile173Ser)
COSMIC COSMIC
17g.7670714A>GCA397832942TP53c.995T>C (p.Ile332Thr)
c.599T>C (p.Ile200Thr)
c.716T>C (p.Ile239Thr)
c.974T>C (p.Ile325Thr)
c.993+2821T>C (n.993+2821T>C)
c.782+3467T>C (n.782+3467T>C)
c.*102T>C (n.*102T>C)
c.*14T>C (n.*14T>C)
c.54-1024T>C
c.878T>C (p.Ile293Thr)
c.962T>C (p.Ile321Thr)
c.518T>C (p.Ile173Thr)
ClinVar
17g.7670714A>TCA397832951TP53c.995T>A (p.Ile332Asn)
c.599T>A (p.Ile200Asn)
c.716T>A (p.Ile239Asn)
c.974T>A (p.Ile325Asn)
c.993+2821T>A (n.993+2821T>A)
c.782+3467T>A (n.782+3467T>A)
c.*102T>A (n.*102T>A)
c.*14T>A (n.*14T>A)
c.54-1024T>A
c.878T>A (p.Ile293Asn)
c.962T>A (p.Ile321Asn)
c.518T>A (p.Ile173Asn)
ClinVar dbSNP
17g.7670715delCA497712627TP53c.994del (p.Ile332SerfsTer13)
c.598del (p.Ile200SerfsTer13)
c.715del (p.Ile239SerfsTer13)
c.973del (p.Ile325SerfsTer13)
c.993+2820del (n.993+2820del)
c.782+3466del (n.782+3466del)
c.*101del (n.*101del)
c.*13del (n.*13del)
c.54-1025del
c.877del (p.Ile293SerfsTer13)
c.961del (p.Ile321SerfsTer13)
c.517del (p.Ile173SerfsTer13)
COSMIC
17g.7670715T>ACA397832973TP53c.994A>T (p.Ile332Phe)
c.598A>T (p.Ile200Phe)
c.715A>T (p.Ile239Phe)
c.973A>T (p.Ile325Phe)
c.993+2820A>T (n.993+2820A>T)
c.782+3466A>T (n.782+3466A>T)
c.*101A>T (n.*101A>T)
c.*13A>T (n.*13A>T)
c.54-1025A>T
c.877A>T (p.Ile293Phe)
c.961A>T (p.Ile321Phe)
c.517A>T (p.Ile173Phe)
17g.7670715T>CCA397832975TP53c.994A>G (p.Ile332Val)
c.598A>G (p.Ile200Val)
c.715A>G (p.Ile239Val)
c.973A>G (p.Ile325Val)
c.993+2820A>G (n.993+2820A>G)
c.782+3466A>G (n.782+3466A>G)
c.*101A>G (n.*101A>G)
c.*13A>G (n.*13A>G)
c.54-1025A>G
c.877A>G (p.Ile293Val)
c.961A>G (p.Ile321Val)
c.517A>G (p.Ile173Val)
COSMIC
17g.7670715T>GCA397832978TP53c.994A>C (p.Ile332Leu)
c.598A>C (p.Ile200Leu)
c.715A>C (p.Ile239Leu)
c.973A>C (p.Ile325Leu)
c.993+2820A>C (n.993+2820A>C)
c.782+3466A>C (n.782+3466A>C)
c.*101A>C (n.*101A>C)
c.*13A>C (n.*13A>C)
c.54-1025A>C
c.877A>C (p.Ile293Leu)
c.961A>C (p.Ile321Leu)
c.517A>C (p.Ile173Leu)
17g.7670716C>ACA397832981TP53c.994-1G>T (n.994-1G>T)
c.598-1G>T (n.598-1G>T)
c.715-1G>T (n.715-1G>T)
c.973-1G>T (n.973-1G>T)
c.993+2819G>T (n.993+2819G>T)
c.782+3465G>T (n.782+3465G>T)
c.*101-1G>T (n.*101-1G>T)
c.*13-1G>T (n.*13-1G>T)
c.54-1026G>T
c.877-1G>T (n.877-1G>T)
c.961-1G>T (n.961-1G>T)
c.517-1G>T (n.517-1G>T)
ClinVar dbSNP COSMIC COSMIC
17g.7670716C=CA2245943257TP53c.994-1G= (n.994-1G=)
c.598-1G= (n.598-1G=)
c.715-1G= (n.715-1G=)
c.973-1G= (n.973-1G=)
c.993+2819G= (n.993+2819G=)
c.782+3465G= (n.782+3465G=)
c.*101-1G= (n.*101-1G=)
c.*13-1G= (n.*13-1G=)
c.54-1026G=
c.877-1G= (n.877-1G=)
c.961-1G= (n.961-1G=)
c.517-1G= (n.517-1G=)
17g.7670716C>GCA10580906TP53c.994-1G>C (n.994-1G>C)
c.598-1G>C (n.598-1G>C)
c.715-1G>C (n.715-1G>C)
c.973-1G>C (n.973-1G>C)
c.993+2819G>C (n.993+2819G>C)
c.782+3465G>C (n.782+3465G>C)
c.*101-1G>C (n.*101-1G>C)
c.*13-1G>C (n.*13-1G>C)
c.54-1026G>C
c.877-1G>C (n.877-1G>C)
c.961-1G>C (n.961-1G>C)
c.517-1G>C (n.517-1G>C)
ClinVar dbSNP COSMIC COSMIC
17g.7670716C>TCA000528TP53c.994-1G>A (n.994-1G>A)
c.598-1G>A (n.598-1G>A)
c.715-1G>A (n.715-1G>A)
c.973-1G>A (n.973-1G>A)
c.993+2819G>A (n.993+2819G>A)
c.782+3465G>A (n.782+3465G>A)
c.*101-1G>A (n.*101-1G>A)
c.*13-1G>A (n.*13-1G>A)
c.54-1026G>A
c.877-1G>A (n.877-1G>A)
c.961-1G>A (n.961-1G>A)
c.517-1G>A (n.517-1G>A)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.7670717T>ACA397832984TP53c.994-2A>T (n.994-2A>T)
c.598-2A>T (n.598-2A>T)
c.715-2A>T (n.715-2A>T)
c.973-2A>T (n.973-2A>T)
c.993+2818A>T (n.993+2818A>T)
c.782+3464A>T (n.782+3464A>T)
c.*101-2A>T (n.*101-2A>T)
c.*13-2A>T (n.*13-2A>T)
c.54-1027A>T
c.877-2A>T (n.877-2A>T)
c.961-2A>T (n.961-2A>T)
c.517-2A>T (n.517-2A>T)
ClinVar dbSNP COSMIC COSMIC
17g.7670717T>CCA287485766TP53c.994-2A>G (n.994-2A>G)
c.598-2A>G (n.598-2A>G)
c.715-2A>G (n.715-2A>G)
c.973-2A>G (n.973-2A>G)
c.993+2818A>G (n.993+2818A>G)
c.782+3464A>G (n.782+3464A>G)
c.*101-2A>G (n.*101-2A>G)
c.*13-2A>G (n.*13-2A>G)
c.54-1027A>G
c.877-2A>G (n.877-2A>G)
c.961-2A>G (n.961-2A>G)
c.517-2A>G (n.517-2A>G)
ClinVar dbSNP COSMIC COSMIC
17g.7670717T>GCA397832988TP53c.994-2A>C (n.994-2A>C)
c.598-2A>C (n.598-2A>C)
c.715-2A>C (n.715-2A>C)
c.973-2A>C (n.973-2A>C)
c.993+2818A>C (n.993+2818A>C)
c.782+3464A>C (n.782+3464A>C)
c.*101-2A>C (n.*101-2A>C)
c.*13-2A>C (n.*13-2A>C)
c.54-1027A>C
c.877-2A>C (n.877-2A>C)
c.961-2A>C (n.961-2A>C)
c.517-2A>C (n.517-2A>C)
ClinVar dbSNP COSMIC COSMIC
17g.7670717T=CA2245943262TP53c.994-2A= (n.994-2A=)
c.598-2A= (n.598-2A=)
c.715-2A= (n.715-2A=)
c.973-2A= (n.973-2A=)
c.993+2818A= (n.993+2818A=)
c.782+3464A= (n.782+3464A=)
c.*101-2A= (n.*101-2A=)
c.*13-2A= (n.*13-2A=)
c.54-1027A=
c.877-2A= (n.877-2A=)
c.961-2A= (n.961-2A=)
c.517-2A= (n.517-2A=)
17g.7670718delCA2573154616TP53c.994-3del (n.994-3del)
c.598-3del (n.598-3del)
c.715-3del (n.715-3del)
c.973-3del (n.973-3del)
c.993+2817del (n.993+2817del)
c.782+3463del (n.782+3463del)
c.*101-3del (n.*101-3del)
c.*13-3del (n.*13-3del)
c.54-1028del
c.877-3del (n.877-3del)
c.961-3del (n.961-3del)
c.517-3del (n.517-3del)
ClinVar dbSNP
17g.7670718G>ACA2586963901TP53c.994-3C>T (n.994-3C>T)
c.598-3C>T (n.598-3C>T)
c.715-3C>T (n.715-3C>T)
c.973-3C>T (n.973-3C>T)
c.993+2817C>T (n.993+2817C>T)
c.782+3463C>T (n.782+3463C>T)
c.*101-3C>T (n.*101-3C>T)
c.*13-3C>T (n.*13-3C>T)
c.54-1028C>T
c.877-3C>T (n.877-3C>T)
c.961-3C>T (n.961-3C>T)
c.517-3C>T (n.517-3C>T)
dbSNP
17g.7670718G>CCA645587332TP53c.994-3C>G (n.994-3C>G)
c.598-3C>G (n.598-3C>G)
c.715-3C>G (n.715-3C>G)
c.973-3C>G (n.973-3C>G)
c.993+2817C>G (n.993+2817C>G)
c.782+3463C>G (n.782+3463C>G)
c.*101-3C>G (n.*101-3C>G)
c.*13-3C>G (n.*13-3C>G)
c.54-1028C>G
c.877-3C>G (n.877-3C>G)
c.961-3C>G (n.961-3C>G)
c.517-3C>G (n.517-3C>G)
dbSNP COSMIC
17g.7670718G>TCA10575445TP53c.994-3C>A (n.994-3C>A)
c.598-3C>A (n.598-3C>A)
c.715-3C>A (n.715-3C>A)
c.973-3C>A (n.973-3C>A)
c.993+2817C>A (n.993+2817C>A)
c.782+3463C>A (n.782+3463C>A)
c.*101-3C>A (n.*101-3C>A)
c.*13-3C>A (n.*13-3C>A)
c.54-1028C>A
c.877-3C>A (n.877-3C>A)
c.961-3C>A (n.961-3C>A)
c.517-3C>A (n.517-3C>A)
gnomAD v4
17g.7670718_7670719insAAGGGTGAAATATTCTCCATCCA2733134753TP53c.994-4_994-3insGATGGAGAATATTTCACCCTT (n.994-4_994-3insGATGGAGAATATTTCACCCTT)
c.598-4_598-3insGATGGAGAATATTTCACCCTT (n.598-4_598-3insGATGGAGAATATTTCACCCTT)
c.715-4_715-3insGATGGAGAATATTTCACCCTT (n.715-4_715-3insGATGGAGAATATTTCACCCTT)
c.973-4_973-3insGATGGAGAATATTTCACCCTT (n.973-4_973-3insGATGGAGAATATTTCACCCTT)
c.993+2816_993+2817insGATGGAGAATATTTCACCCTT (n.993+2816_993+2817insGATGGAGAATATTTCACCCTT)
c.782+3462_782+3463insGATGGAGAATATTTCACCCTT (n.782+3462_782+3463insGATGGAGAATATTTCACCCTT)
c.*101-4_*101-3insGATGGAGAATATTTCACCCTT (n.*101-4_*101-3insGATGGAGAATATTTCACCCTT)
c.*13-4_*13-3insGATGGAGAATATTTCACCCTT (n.*13-4_*13-3insGATGGAGAATATTTCACCCTT)
c.54-1029_54-1028insGATGGAGAATATTTCACCCTT
c.877-4_877-3insGATGGAGAATATTTCACCCTT (n.877-4_877-3insGATGGAGAATATTTCACCCTT)
c.961-4_961-3insGATGGAGAATATTTCACCCTT (n.961-4_961-3insGATGGAGAATATTTCACCCTT)
c.517-4_517-3insGATGGAGAATATTTCACCCTT (n.517-4_517-3insGATGGAGAATATTTCACCCTT)
dbSNP
17g.7670719C>ACA2733134752TP53c.994-4G>T (n.994-4G>T)
c.598-4G>T (n.598-4G>T)
c.715-4G>T (n.715-4G>T)
c.973-4G>T (n.973-4G>T)
c.993+2816G>T (n.993+2816G>T)
c.782+3462G>T (n.782+3462G>T)
c.*101-4G>T (n.*101-4G>T)
c.*13-4G>T (n.*13-4G>T)
c.54-1029G>T
c.877-4G>T (n.877-4G>T)
c.961-4G>T (n.961-4G>T)
c.517-4G>T (n.517-4G>T)
dbSNP
17g.7670719C>TCA2733134751TP53c.994-4G>A (n.994-4G>A)
c.598-4G>A (n.598-4G>A)
c.715-4G>A (n.715-4G>A)
c.973-4G>A (n.973-4G>A)
c.993+2816G>A (n.993+2816G>A)
c.782+3462G>A (n.782+3462G>A)
c.*101-4G>A (n.*101-4G>A)
c.*13-4G>A (n.*13-4G>A)
c.54-1029G>A
c.877-4G>A (n.877-4G>A)
c.961-4G>A (n.961-4G>A)
c.517-4G>A (n.517-4G>A)
dbSNP
17g.7670720A=CA2245943276TP53c.994-5T= (n.994-5T=)
c.598-5T= (n.598-5T=)
c.715-5T= (n.715-5T=)
c.973-5T= (n.973-5T=)
c.993+2815T= (n.993+2815T=)
c.782+3461T= (n.782+3461T=)
c.*101-5T= (n.*101-5T=)
c.*13-5T= (n.*13-5T=)
c.54-1030T=
c.877-5T= (n.877-5T=)
c.961-5T= (n.961-5T=)
c.517-5T= (n.517-5T=)
17g.7670720A>CCA2825002628TP53c.994-5T>G (n.994-5T>G)
c.598-5T>G (n.598-5T>G)
c.715-5T>G (n.715-5T>G)
c.973-5T>G (n.973-5T>G)
c.993+2815T>G (n.993+2815T>G)
c.782+3461T>G (n.782+3461T>G)
c.*101-5T>G (n.*101-5T>G)
c.*13-5T>G (n.*13-5T>G)
c.54-1030T>G
c.877-5T>G (n.877-5T>G)
c.961-5T>G (n.961-5T>G)
c.517-5T>G (n.517-5T>G)
ClinVar
17g.7670720A>GCA000900TP53c.994-5T>C (n.994-5T>C)
c.598-5T>C (n.598-5T>C)
c.715-5T>C (n.715-5T>C)
c.973-5T>C (n.973-5T>C)
c.993+2815T>C (n.993+2815T>C)
c.782+3461T>C (n.782+3461T>C)
c.*101-5T>C (n.*101-5T>C)
c.*13-5T>C (n.*13-5T>C)
c.54-1030T>C
c.877-5T>C (n.877-5T>C)
c.961-5T>C (n.961-5T>C)
c.517-5T>C (n.517-5T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7670720_7670721insCCCA2573154618TP53c.994-6_994-5insGG (n.994-6_994-5insGG)
c.598-6_598-5insGG (n.598-6_598-5insGG)
c.715-6_715-5insGG (n.715-6_715-5insGG)
c.973-6_973-5insGG (n.973-6_973-5insGG)
c.993+2814_993+2815insGG (n.993+2814_993+2815insGG)
c.782+3460_782+3461insGG (n.782+3460_782+3461insGG)
c.*101-6_*101-5insGG (n.*101-6_*101-5insGG)
c.*13-6_*13-5insGG (n.*13-6_*13-5insGG)
c.54-1031_54-1030insGG
c.877-6_877-5insGG (n.877-6_877-5insGG)
c.961-6_961-5insGG (n.961-6_961-5insGG)
c.517-6_517-5insGG (n.517-6_517-5insGG)
ClinVar dbSNP
17g.7670721G>ACA2499224953TP53c.994-6C>T (n.994-6C>T)
c.598-6C>T (n.598-6C>T)
c.715-6C>T (n.715-6C>T)
c.973-6C>T (n.973-6C>T)
c.993+2814C>T (n.993+2814C>T)
c.782+3460C>T (n.782+3460C>T)
c.*101-6C>T (n.*101-6C>T)
c.*13-6C>T (n.*13-6C>T)
c.54-1031C>T
c.877-6C>T (n.877-6C>T)
c.961-6C>T (n.961-6C>T)
c.517-6C>T (n.517-6C>T)
ClinVar dbSNP
17g.7670721G>CCA2573154617TP53c.994-6C>G (n.994-6C>G)
c.598-6C>G (n.598-6C>G)
c.715-6C>G (n.715-6C>G)
c.973-6C>G (n.973-6C>G)
c.993+2814C>G (n.993+2814C>G)
c.782+3460C>G (n.782+3460C>G)
c.*101-6C>G (n.*101-6C>G)
c.*13-6C>G (n.*13-6C>G)
c.54-1031C>G
c.877-6C>G (n.877-6C>G)
c.961-6C>G (n.961-6C>G)
c.517-6C>G (n.517-6C>G)
ClinVar dbSNP
17g.7670721G=CA2245943290TP53c.994-6C= (n.994-6C=)
c.598-6C= (n.598-6C=)
c.715-6C= (n.715-6C=)
c.973-6C= (n.973-6C=)
c.993+2814C= (n.993+2814C=)
c.782+3460C= (n.782+3460C=)
c.*101-6C= (n.*101-6C=)
c.*13-6C= (n.*13-6C=)
c.54-1031C=
c.877-6C= (n.877-6C=)
c.961-6C= (n.961-6C=)
c.517-6C= (n.517-6C=)
17g.7670721G>TCA658656521TP53c.994-6C>A (n.994-6C>A)
c.598-6C>A (n.598-6C>A)
c.715-6C>A (n.715-6C>A)
c.973-6C>A (n.973-6C>A)
c.993+2814C>A (n.993+2814C>A)
c.782+3460C>A (n.782+3460C>A)
c.*101-6C>A (n.*101-6C>A)
c.*13-6C>A (n.*13-6C>A)
c.54-1031C>A
c.877-6C>A (n.877-6C>A)
c.961-6C>A (n.961-6C>A)
c.517-6C>A (n.517-6C>A)
ClinVar dbSNP gnomAD v4
17g.7670721_7670722insTGGTTTCTTCA2733135127TP53c.994-7_994-6insAAGAAACCA (n.994-7_994-6insAAGAAACCA)
c.598-7_598-6insAAGAAACCA (n.598-7_598-6insAAGAAACCA)
c.715-7_715-6insAAGAAACCA (n.715-7_715-6insAAGAAACCA)
c.973-7_973-6insAAGAAACCA (n.973-7_973-6insAAGAAACCA)
c.993+2813_993+2814insAAGAAACCA (n.993+2813_993+2814insAAGAAACCA)
c.782+3459_782+3460insAAGAAACCA (n.782+3459_782+3460insAAGAAACCA)
c.*101-7_*101-6insAAGAAACCA (n.*101-7_*101-6insAAGAAACCA)
c.*13-7_*13-6insAAGAAACCA (n.*13-7_*13-6insAAGAAACCA)
c.54-1032_54-1031insAAGAAACCA
c.877-7_877-6insAAGAAACCA (n.877-7_877-6insAAGAAACCA)
c.961-7_961-6insAAGAAACCA (n.961-7_961-6insAAGAAACCA)
c.517-7_517-6insAAGAAACCA (n.517-7_517-6insAAGAAACCA)
dbSNP
17g.7670722C>ACA2733135125TP53c.994-7G>T (n.994-7G>T)
c.598-7G>T (n.598-7G>T)
c.715-7G>T (n.715-7G>T)
c.973-7G>T (n.973-7G>T)
c.993+2813G>T (n.993+2813G>T)
c.782+3459G>T (n.782+3459G>T)
c.*101-7G>T (n.*101-7G>T)
c.*13-7G>T (n.*13-7G>T)
c.54-1032G>T
c.877-7G>T (n.877-7G>T)
c.961-7G>T (n.961-7G>T)
c.517-7G>T (n.517-7G>T)
dbSNP
17g.7670722C>GCA2733135107TP53c.994-7G>C (n.994-7G>C)
c.598-7G>C (n.598-7G>C)
c.715-7G>C (n.715-7G>C)
c.973-7G>C (n.973-7G>C)
c.993+2813G>C (n.993+2813G>C)
c.782+3459G>C (n.782+3459G>C)
c.*101-7G>C (n.*101-7G>C)
c.*13-7G>C (n.*13-7G>C)
c.54-1032G>C
c.877-7G>C (n.877-7G>C)
c.961-7G>C (n.961-7G>C)
c.517-7G>C (n.517-7G>C)
dbSNP
17g.7670722C>TCA2733134999TP53c.994-7G>A (n.994-7G>A)
c.598-7G>A (n.598-7G>A)
c.715-7G>A (n.715-7G>A)
c.973-7G>A (n.973-7G>A)
c.993+2813G>A (n.993+2813G>A)
c.782+3459G>A (n.782+3459G>A)
c.*101-7G>A (n.*101-7G>A)
c.*13-7G>A (n.*13-7G>A)
c.54-1032G>A
c.877-7G>A (n.877-7G>A)
c.961-7G>A (n.961-7G>A)
c.517-7G>A (n.517-7G>A)
dbSNP
17g.7670723A>CCA2499224954TP53c.994-8T>G (n.994-8T>G)
c.598-8T>G (n.598-8T>G)
c.715-8T>G (n.715-8T>G)
c.973-8T>G (n.973-8T>G)
c.993+2812T>G (n.993+2812T>G)
c.782+3458T>G (n.782+3458T>G)
c.*101-8T>G (n.*101-8T>G)
c.*13-8T>G (n.*13-8T>G)
c.54-1033T>G
c.877-8T>G (n.877-8T>G)
c.961-8T>G (n.961-8T>G)
c.517-8T>G (n.517-8T>G)
ClinVar dbSNP
17g.7670723A>GCA2733135135TP53c.994-8T>C (n.994-8T>C)
c.598-8T>C (n.598-8T>C)
c.715-8T>C (n.715-8T>C)
c.973-8T>C (n.973-8T>C)
c.993+2812T>C (n.993+2812T>C)
c.782+3458T>C (n.782+3458T>C)
c.*101-8T>C (n.*101-8T>C)
c.*13-8T>C (n.*13-8T>C)
c.54-1033T>C
c.877-8T>C (n.877-8T>C)
c.961-8T>C (n.961-8T>C)
c.517-8T>C (n.517-8T>C)
dbSNP
17g.7670723A>TCA645587333TP53c.994-8T>A (n.994-8T>A)
c.598-8T>A (n.598-8T>A)
c.715-8T>A (n.715-8T>A)
c.973-8T>A (n.973-8T>A)
c.993+2812T>A (n.993+2812T>A)
c.782+3458T>A (n.782+3458T>A)
c.*101-8T>A (n.*101-8T>A)
c.*13-8T>A (n.*13-8T>A)
c.54-1033T>A
c.877-8T>A (n.877-8T>A)
c.961-8T>A (n.961-8T>A)
c.517-8T>A (n.517-8T>A)
ClinVar COSMIC COSMIC
17g.7670724A>GCA2733135162TP53c.994-9T>C (n.994-9T>C)
c.598-9T>C (n.598-9T>C)
c.715-9T>C (n.715-9T>C)
c.973-9T>C (n.973-9T>C)
c.993+2811T>C (n.993+2811T>C)
c.782+3457T>C (n.782+3457T>C)
c.*101-9T>C (n.*101-9T>C)
c.*13-9T>C (n.*13-9T>C)
c.54-1034T>C
c.877-9T>C (n.877-9T>C)
c.961-9T>C (n.961-9T>C)
c.517-9T>C (n.517-9T>C)
dbSNP
17g.7670725C>ACA2733135209TP53c.994-10G>T (n.994-10G>T)
c.598-10G>T (n.598-10G>T)
c.715-10G>T (n.715-10G>T)
c.973-10G>T (n.973-10G>T)
c.993+2810G>T (n.993+2810G>T)
c.782+3456G>T (n.782+3456G>T)
c.*101-10G>T (n.*101-10G>T)
c.*13-10G>T (n.*13-10G>T)
c.54-1035G>T
c.877-10G>T (n.877-10G>T)
c.961-10G>T (n.961-10G>T)
c.517-10G>T (n.517-10G>T)
dbSNP
17g.7670725C>GCA2499224955TP53c.994-10G>C (n.994-10G>C)
c.598-10G>C (n.598-10G>C)
c.715-10G>C (n.715-10G>C)
c.973-10G>C (n.973-10G>C)
c.993+2810G>C (n.993+2810G>C)
c.782+3456G>C (n.782+3456G>C)
c.*101-10G>C (n.*101-10G>C)
c.*13-10G>C (n.*13-10G>C)
c.54-1035G>C
c.877-10G>C (n.877-10G>C)
c.961-10G>C (n.961-10G>C)
c.517-10G>C (n.517-10G>C)
ClinVar dbSNP
17g.7670725C>TCA2733135208TP53c.994-10G>A (n.994-10G>A)
c.598-10G>A (n.598-10G>A)
c.715-10G>A (n.715-10G>A)
c.973-10G>A (n.973-10G>A)
c.993+2810G>A (n.993+2810G>A)
c.782+3456G>A (n.782+3456G>A)
c.*101-10G>A (n.*101-10G>A)
c.*13-10G>A (n.*13-10G>A)
c.54-1035G>A
c.877-10G>A (n.877-10G>A)
c.961-10G>A (n.961-10G>A)
c.517-10G>A (n.517-10G>A)
dbSNP
17g.7670726_7670729delinsAGAGCA2245943297TP53c.994-14_994-11delinsCTCT (n.994-14_994-11delinsCTCT)
c.598-14_598-11delinsCTCT (n.598-14_598-11delinsCTCT)
c.715-14_715-11delinsCTCT (n.715-14_715-11delinsCTCT)
c.973-14_973-11delinsCTCT (n.973-14_973-11delinsCTCT)
c.993+2806_993+2809delinsCTCT (n.993+2806_993+2809delinsCTCT)
c.782+3452_782+3455delinsCTCT (n.782+3452_782+3455delinsCTCT)
c.*101-14_*101-11delinsCTCT (n.*101-14_*101-11delinsCTCT)
c.*13-14_*13-11delinsCTCT (n.*13-14_*13-11delinsCTCT)
c.54-1039_54-1036delinsCTCT
c.877-14_877-11delinsCTCT (n.877-14_877-11delinsCTCT)
c.961-14_961-11delinsCTCT (n.961-14_961-11delinsCTCT)
c.517-14_517-11delinsCTCT (n.517-14_517-11delinsCTCT)
17g.7670727G>ACA16607843TP53c.994-12C>T (n.994-12C>T)
c.598-12C>T (n.598-12C>T)
c.715-12C>T (n.715-12C>T)
c.973-12C>T (n.973-12C>T)
c.993+2808C>T (n.993+2808C>T)
c.782+3454C>T (n.782+3454C>T)
c.*101-12C>T (n.*101-12C>T)
c.*13-12C>T (n.*13-12C>T)
c.54-1037C>T
c.877-12C>T (n.877-12C>T)
c.961-12C>T (n.961-12C>T)
c.517-12C>T (n.517-12C>T)
ClinVar dbSNP
17g.7670727G>CCA2732943615TP53c.994-12C>G (n.994-12C>G)
c.598-12C>G (n.598-12C>G)
c.715-12C>G (n.715-12C>G)
c.973-12C>G (n.973-12C>G)
c.993+2808C>G (n.993+2808C>G)
c.782+3454C>G (n.782+3454C>G)
c.*101-12C>G (n.*101-12C>G)
c.*13-12C>G (n.*13-12C>G)
c.54-1037C>G
c.877-12C>G (n.877-12C>G)
c.961-12C>G (n.961-12C>G)
c.517-12C>G (n.517-12C>G)
dbSNP
17g.7670727G=CA2245943312TP53c.994-12C= (n.994-12C=)
c.598-12C= (n.598-12C=)
c.715-12C= (n.715-12C=)
c.973-12C= (n.973-12C=)
c.993+2808C= (n.993+2808C=)
c.782+3454C= (n.782+3454C=)
c.*101-12C= (n.*101-12C=)
c.*13-12C= (n.*13-12C=)
c.54-1037C=
c.877-12C= (n.877-12C=)
c.961-12C= (n.961-12C=)
c.517-12C= (n.517-12C=)
17g.7670727G>TCA2732943616TP53c.994-12C>A (n.994-12C>A)
c.598-12C>A (n.598-12C>A)
c.715-12C>A (n.715-12C>A)
c.973-12C>A (n.973-12C>A)
c.993+2808C>A (n.993+2808C>A)
c.782+3454C>A (n.782+3454C>A)
c.*101-12C>A (n.*101-12C>A)
c.*13-12C>A (n.*13-12C>A)
c.54-1037C>A
c.877-12C>A (n.877-12C>A)
c.961-12C>A (n.961-12C>A)
c.517-12C>A (n.517-12C>A)
dbSNP
17g.7670731_7670733delCA000907TP53c.994-14_994-12del (n.994-14_994-12del)
c.598-14_598-12del (n.598-14_598-12del)
c.715-14_715-12del (n.715-14_715-12del)
c.973-14_973-12del (n.973-14_973-12del)
c.993+2806_993+2808del (n.993+2806_993+2808del)
c.782+3452_782+3454del (n.782+3452_782+3454del)
c.*101-14_*101-12del (n.*101-14_*101-12del)
c.*13-14_*13-12del (n.*13-14_*13-12del)
c.54-1039_54-1037del
c.877-14_877-12del (n.877-14_877-12del)
c.961-14_961-12del (n.961-14_961-12del)
c.517-14_517-12del (n.517-14_517-12del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.7670728A>CCA2576230526TP53c.994-13T>G (n.994-13T>G)
c.598-13T>G (n.598-13T>G)
c.715-13T>G (n.715-13T>G)
c.973-13T>G (n.973-13T>G)
c.993+2807T>G (n.993+2807T>G)
c.782+3453T>G (n.782+3453T>G)
c.*101-13T>G (n.*101-13T>G)
c.*13-13T>G (n.*13-13T>G)
c.54-1038T>G
c.877-13T>G (n.877-13T>G)
c.961-13T>G (n.961-13T>G)
c.517-13T>G (n.517-13T>G)
ClinVar
17g.7670729G>ACA2733135287TP53c.994-14C>T (n.994-14C>T)
c.598-14C>T (n.598-14C>T)
c.715-14C>T (n.715-14C>T)
c.973-14C>T (n.973-14C>T)
c.993+2806C>T (n.993+2806C>T)
c.782+3452C>T (n.782+3452C>T)
c.*101-14C>T (n.*101-14C>T)
c.*13-14C>T (n.*13-14C>T)
c.54-1039C>T
c.877-14C>T (n.877-14C>T)
c.961-14C>T (n.961-14C>T)
c.517-14C>T (n.517-14C>T)
dbSNP
17g.7670729G>TCA2635872078TP53c.994-14C>A (n.994-14C>A)
c.598-14C>A (n.598-14C>A)
c.715-14C>A (n.715-14C>A)
c.973-14C>A (n.973-14C>A)
c.993+2806C>A (n.993+2806C>A)
c.782+3452C>A (n.782+3452C>A)
c.*101-14C>A (n.*101-14C>A)
c.*13-14C>A (n.*13-14C>A)
c.54-1039C>A
c.877-14C>A (n.877-14C>A)
c.961-14C>A (n.961-14C>A)
c.517-14C>A (n.517-14C>A)
gnomAD v4
17g.7670730G>ACA981207688TP53c.994-15C>T (n.994-15C>T)
c.598-15C>T (n.598-15C>T)
c.715-15C>T (n.715-15C>T)
c.973-15C>T (n.973-15C>T)
c.993+2805C>T (n.993+2805C>T)
c.782+3451C>T (n.782+3451C>T)
c.*101-15C>T (n.*101-15C>T)
c.*13-15C>T (n.*13-15C>T)
c.54-1040C>T
c.877-15C>T (n.877-15C>T)
c.961-15C>T (n.961-15C>T)
c.517-15C>T (n.517-15C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7670730G=CA2245943315TP53c.994-15C= (n.994-15C=)
c.598-15C= (n.598-15C=)
c.715-15C= (n.715-15C=)
c.973-15C= (n.973-15C=)
c.993+2805C= (n.993+2805C=)
c.782+3451C= (n.782+3451C=)
c.*101-15C= (n.*101-15C=)
c.*13-15C= (n.*13-15C=)
c.54-1040C=
c.877-15C= (n.877-15C=)
c.961-15C= (n.961-15C=)
c.517-15C= (n.517-15C=)
17g.7670730G>TCA2635872084TP53c.994-15C>A (n.994-15C>A)
c.598-15C>A (n.598-15C>A)
c.715-15C>A (n.715-15C>A)
c.973-15C>A (n.973-15C>A)
c.993+2805C>A (n.993+2805C>A)
c.782+3451C>A (n.782+3451C>A)
c.*101-15C>A (n.*101-15C>A)
c.*13-15C>A (n.*13-15C>A)
c.54-1040C>A
c.877-15C>A (n.877-15C>A)
c.961-15C>A (n.961-15C>A)
c.517-15C>A (n.517-15C>A)
gnomAD v4
17g.7670731A=CA2245943320TP53c.994-16T= (n.994-16T=)
c.598-16T= (n.598-16T=)
c.715-16T= (n.715-16T=)
c.973-16T= (n.973-16T=)
c.993+2804T= (n.993+2804T=)
c.782+3450T= (n.782+3450T=)
c.*101-16T= (n.*101-16T=)
c.*13-16T= (n.*13-16T=)
c.54-1041T=
c.877-16T= (n.877-16T=)
c.961-16T= (n.961-16T=)
c.517-16T= (n.517-16T=)
17g.7670731A>CCA2739265565TP53c.994-16T>G (n.994-16T>G)
c.598-16T>G (n.598-16T>G)
c.715-16T>G (n.715-16T>G)
c.973-16T>G (n.973-16T>G)
c.993+2804T>G (n.993+2804T>G)
c.782+3450T>G (n.782+3450T>G)
c.*101-16T>G (n.*101-16T>G)
c.*13-16T>G (n.*13-16T>G)
c.54-1041T>G
c.877-16T>G (n.877-16T>G)
c.961-16T>G (n.961-16T>G)
c.517-16T>G (n.517-16T>G)
ClinVar
17g.7670732G>ACA000527TP53c.994-17C>T (n.994-17C>T)
c.598-17C>T (n.598-17C>T)
c.715-17C>T (n.715-17C>T)
c.973-17C>T (n.973-17C>T)
c.993+2803C>T (n.993+2803C>T)
c.782+3449C>T (n.782+3449C>T)
c.*101-17C>T (n.*101-17C>T)
c.*13-17C>T (n.*13-17C>T)
c.54-1042C>T
c.877-17C>T (n.877-17C>T)
c.961-17C>T (n.961-17C>T)
c.517-17C>T (n.517-17C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7670732G>CCA2576230527TP53c.994-17C>G (n.994-17C>G)
c.598-17C>G (n.598-17C>G)
c.715-17C>G (n.715-17C>G)
c.973-17C>G (n.973-17C>G)
c.993+2803C>G (n.993+2803C>G)
c.782+3449C>G (n.782+3449C>G)
c.*101-17C>G (n.*101-17C>G)
c.*13-17C>G (n.*13-17C>G)
c.54-1042C>G
c.877-17C>G (n.877-17C>G)
c.961-17C>G (n.961-17C>G)
c.517-17C>G (n.517-17C>G)
ClinVar gnomAD v4
17g.7670732G=CA2245943328TP53c.994-17C= (n.994-17C=)
c.598-17C= (n.598-17C=)
c.715-17C= (n.715-17C=)
c.973-17C= (n.973-17C=)
c.993+2803C= (n.993+2803C=)
c.782+3449C= (n.782+3449C=)
c.*101-17C= (n.*101-17C=)
c.*13-17C= (n.*13-17C=)
c.54-1042C=
c.877-17C= (n.877-17C=)
c.961-17C= (n.961-17C=)
c.517-17C= (n.517-17C=)
17g.7670732G>TCA2573154619TP53c.994-17C>A (n.994-17C>A)
c.598-17C>A (n.598-17C>A)
c.715-17C>A (n.715-17C>A)
c.973-17C>A (n.973-17C>A)
c.993+2803C>A (n.993+2803C>A)
c.782+3449C>A (n.782+3449C>A)
c.*101-17C>A (n.*101-17C>A)
c.*13-17C>A (n.*13-17C>A)
c.54-1042C>A
c.877-17C>A (n.877-17C>A)
c.961-17C>A (n.961-17C>A)
c.517-17C>A (n.517-17C>A)
ClinVar dbSNP gnomAD v4
17g.7670736dupCA2245943327TP53c.994-17dup (n.994-17dup)
c.598-17dup (n.598-17dup)
c.715-17dup (n.715-17dup)
c.973-17dup (n.973-17dup)
c.993+2803dup (n.993+2803dup)
c.782+3449dup (n.782+3449dup)
c.*101-17dup (n.*101-17dup)
c.*13-17dup (n.*13-17dup)
c.54-1042dup
c.877-17dup (n.877-17dup)
c.961-17dup (n.961-17dup)
c.517-17dup (n.517-17dup)
dbSNP gnomAD v4
17g.7670733G>ACA2580094881TP53c.994-18C>T (n.994-18C>T)
c.598-18C>T (n.598-18C>T)
c.715-18C>T (n.715-18C>T)
c.973-18C>T (n.973-18C>T)
c.993+2802C>T (n.993+2802C>T)
c.782+3448C>T (n.782+3448C>T)
c.*101-18C>T (n.*101-18C>T)
c.*13-18C>T (n.*13-18C>T)
c.54-1043C>T
c.877-18C>T (n.877-18C>T)
c.961-18C>T (n.961-18C>T)
c.517-18C>T (n.517-18C>T)
ClinVar dbSNP gnomAD v4
17g.7670733G=CA2245943336TP53c.994-18C= (n.994-18C=)
c.598-18C= (n.598-18C=)
c.715-18C= (n.715-18C=)
c.973-18C= (n.973-18C=)
c.993+2802C= (n.993+2802C=)
c.782+3448C= (n.782+3448C=)
c.*101-18C= (n.*101-18C=)
c.*13-18C= (n.*13-18C=)
c.54-1043C=
c.877-18C= (n.877-18C=)
c.961-18C= (n.961-18C=)
c.517-18C= (n.517-18C=)
17g.7670733G>TCA287485771TP53c.994-18C>A (n.994-18C>A)
c.598-18C>A (n.598-18C>A)
c.715-18C>A (n.715-18C>A)
c.973-18C>A (n.973-18C>A)
c.993+2802C>A (n.993+2802C>A)
c.782+3448C>A (n.782+3448C>A)
c.*101-18C>A (n.*101-18C>A)
c.*13-18C>A (n.*13-18C>A)
c.54-1043C>A
c.877-18C>A (n.877-18C>A)
c.961-18C>A (n.961-18C>A)
c.517-18C>A (n.517-18C>A)
ClinVar dbSNP
17g.7670734G>ACA624725916TP53c.994-19C>T (n.994-19C>T)
c.598-19C>T (n.598-19C>T)
c.715-19C>T (n.715-19C>T)
c.973-19C>T (n.973-19C>T)
c.993+2801C>T (n.993+2801C>T)
c.782+3447C>T (n.782+3447C>T)
c.*101-19C>T (n.*101-19C>T)
c.*13-19C>T (n.*13-19C>T)
c.54-1044C>T
c.877-19C>T (n.877-19C>T)
c.961-19C>T (n.961-19C>T)
c.517-19C>T (n.517-19C>T)
dbSNP gnomAD v2 gnomAD v4
17g.7670734G=CA2245943342TP53c.994-19C= (n.994-19C=)
c.598-19C= (n.598-19C=)
c.715-19C= (n.715-19C=)
c.973-19C= (n.973-19C=)
c.993+2801C= (n.993+2801C=)
c.782+3447C= (n.782+3447C=)
c.*101-19C= (n.*101-19C=)
c.*13-19C= (n.*13-19C=)
c.54-1044C=
c.877-19C= (n.877-19C=)
c.961-19C= (n.961-19C=)
c.517-19C= (n.517-19C=)
17g.7670734G>TCA2635872108TP53c.994-19C>A (n.994-19C>A)
c.598-19C>A (n.598-19C>A)
c.715-19C>A (n.715-19C>A)
c.973-19C>A (n.973-19C>A)
c.993+2801C>A (n.993+2801C>A)
c.782+3447C>A (n.782+3447C>A)
c.*101-19C>A (n.*101-19C>A)
c.*13-19C>A (n.*13-19C>A)
c.54-1044C>A
c.877-19C>A (n.877-19C>A)
c.961-19C>A (n.961-19C>A)
c.517-19C>A (n.517-19C>A)
gnomAD v4
17g.7670735G>ACA2635872109TP53c.994-20C>T (n.994-20C>T)
c.598-20C>T (n.598-20C>T)
c.715-20C>T (n.715-20C>T)
c.973-20C>T (n.973-20C>T)
c.993+2800C>T (n.993+2800C>T)
c.782+3446C>T (n.782+3446C>T)
c.*101-20C>T (n.*101-20C>T)
c.*13-20C>T (n.*13-20C>T)
c.54-1045C>T
c.877-20C>T (n.877-20C>T)
c.961-20C>T (n.961-20C>T)
c.517-20C>T (n.517-20C>T)
dbSNP gnomAD v4
17g.7670735G>TCA2576230528TP53c.994-20C>A (n.994-20C>A)
c.598-20C>A (n.598-20C>A)
c.715-20C>A (n.715-20C>A)
c.973-20C>A (n.973-20C>A)
c.993+2800C>A (n.993+2800C>A)
c.782+3446C>A (n.782+3446C>A)
c.*101-20C>A (n.*101-20C>A)
c.*13-20C>A (n.*13-20C>A)
c.54-1045C>A
c.877-20C>A (n.877-20C>A)
c.961-20C>A (n.961-20C>A)
c.517-20C>A (n.517-20C>A)
17g.7670736G>ACA287485773TP53c.994-21C>T (n.994-21C>T)
c.598-21C>T (n.598-21C>T)
c.715-21C>T (n.715-21C>T)
c.973-21C>T (n.973-21C>T)
c.993+2799C>T (n.993+2799C>T)
c.782+3445C>T (n.782+3445C>T)
c.*101-21C>T (n.*101-21C>T)
c.*13-21C>T (n.*13-21C>T)
c.54-1046C>T
c.877-21C>T (n.877-21C>T)
c.961-21C>T (n.961-21C>T)
c.517-21C>T (n.517-21C>T)
dbSNP gnomAD v3 gnomAD v4
17g.7670736G=CA2245943348TP53c.994-21C= (n.994-21C=)
c.598-21C= (n.598-21C=)
c.715-21C= (n.715-21C=)
c.973-21C= (n.973-21C=)
c.993+2799C= (n.993+2799C=)
c.782+3445C= (n.782+3445C=)
c.*101-21C= (n.*101-21C=)
c.*13-21C= (n.*13-21C=)
c.54-1046C=
c.877-21C= (n.877-21C=)
c.961-21C= (n.961-21C=)
c.517-21C= (n.517-21C=)
17g.7670736G>TCA2635872111TP53c.994-21C>A (n.994-21C>A)
c.598-21C>A (n.598-21C>A)
c.715-21C>A (n.715-21C>A)
c.973-21C>A (n.973-21C>A)
c.993+2799C>A (n.993+2799C>A)
c.782+3445C>A (n.782+3445C>A)
c.*101-21C>A (n.*101-21C>A)
c.*13-21C>A (n.*13-21C>A)
c.54-1046C>A
c.877-21C>A (n.877-21C>A)
c.961-21C>A (n.961-21C>A)
c.517-21C>A (n.517-21C>A)
dbSNP gnomAD v4
17g.7670737A>GCA2635872114TP53c.994-22T>C (n.994-22T>C)
c.598-22T>C (n.598-22T>C)
c.715-22T>C (n.715-22T>C)
c.973-22T>C (n.973-22T>C)
c.993+2798T>C (n.993+2798T>C)
c.782+3444T>C (n.782+3444T>C)
c.*101-22T>C (n.*101-22T>C)
c.*13-22T>C (n.*13-22T>C)
c.54-1047T>C
c.877-22T>C (n.877-22T>C)
c.961-22T>C (n.961-22T>C)
c.517-22T>C (n.517-22T>C)
dbSNP gnomAD v4
17g.7670738G>ACA2733135309TP53c.994-23C>T (n.994-23C>T)
c.598-23C>T (n.598-23C>T)
c.715-23C>T (n.715-23C>T)
c.973-23C>T (n.973-23C>T)
c.993+2797C>T (n.993+2797C>T)
c.782+3443C>T (n.782+3443C>T)
c.*101-23C>T (n.*101-23C>T)
c.*13-23C>T (n.*13-23C>T)
c.54-1048C>T
c.877-23C>T (n.877-23C>T)
c.961-23C>T (n.961-23C>T)
c.517-23C>T (n.517-23C>T)
dbSNP
17g.7670738G>CCA2576230529TP53c.994-23C>G (n.994-23C>G)
c.598-23C>G (n.598-23C>G)
c.715-23C>G (n.715-23C>G)
c.973-23C>G (n.973-23C>G)
c.993+2797C>G (n.993+2797C>G)
c.782+3443C>G (n.782+3443C>G)
c.*101-23C>G (n.*101-23C>G)
c.*13-23C>G (n.*13-23C>G)
c.54-1048C>G
c.877-23C>G (n.877-23C>G)
c.961-23C>G (n.961-23C>G)
c.517-23C>G (n.517-23C>G)
17g.7670738G>TCA2635872115TP53c.994-23C>A (n.994-23C>A)
c.598-23C>A (n.598-23C>A)
c.715-23C>A (n.715-23C>A)
c.973-23C>A (n.973-23C>A)
c.993+2797C>A (n.993+2797C>A)
c.782+3443C>A (n.782+3443C>A)
c.*101-23C>A (n.*101-23C>A)
c.*13-23C>A (n.*13-23C>A)
c.54-1048C>A
c.877-23C>A (n.877-23C>A)
c.961-23C>A (n.961-23C>A)
c.517-23C>A (n.517-23C>A)
gnomAD v4
17g.7670738_7670742delinsGAAGTCA2245943355TP53c.994-27_994-23delinsACTTC (n.994-27_994-23delinsACTTC)
c.598-27_598-23delinsACTTC (n.598-27_598-23delinsACTTC)
c.715-27_715-23delinsACTTC (n.715-27_715-23delinsACTTC)
c.973-27_973-23delinsACTTC (n.973-27_973-23delinsACTTC)
c.993+2793_993+2797delinsACTTC (n.993+2793_993+2797delinsACTTC)
c.782+3439_782+3443delinsACTTC (n.782+3439_782+3443delinsACTTC)
c.*101-27_*101-23delinsACTTC (n.*101-27_*101-23delinsACTTC)
c.*13-27_*13-23delinsACTTC (n.*13-27_*13-23delinsACTTC)
c.54-1052_54-1048delinsACTTC
c.877-27_877-23delinsACTTC (n.877-27_877-23delinsACTTC)
c.961-27_961-23delinsACTTC (n.961-27_961-23delinsACTTC)
c.517-27_517-23delinsACTTC (n.517-27_517-23delinsACTTC)
17g.7670739A>GCA2635872116TP53c.994-24T>C (n.994-24T>C)
c.598-24T>C (n.598-24T>C)
c.715-24T>C (n.715-24T>C)
c.973-24T>C (n.973-24T>C)
c.993+2796T>C (n.993+2796T>C)
c.782+3442T>C (n.782+3442T>C)
c.*101-24T>C (n.*101-24T>C)
c.*13-24T>C (n.*13-24T>C)
c.54-1049T>C
c.877-24T>C (n.877-24T>C)
c.961-24T>C (n.961-24T>C)
c.517-24T>C (n.517-24T>C)
dbSNP gnomAD v4
17g.7670744_7670747delCA2245943356TP53c.994-27_994-24del (n.994-27_994-24del)
c.598-27_598-24del (n.598-27_598-24del)
c.715-27_715-24del (n.715-27_715-24del)
c.973-27_973-24del (n.973-27_973-24del)
c.993+2793_993+2796del (n.993+2793_993+2796del)
c.782+3439_782+3442del (n.782+3439_782+3442del)
c.*101-27_*101-24del (n.*101-27_*101-24del)
c.*13-27_*13-24del (n.*13-27_*13-24del)
c.54-1052_54-1049del
c.877-27_877-24del (n.877-27_877-24del)
c.961-27_961-24del (n.961-27_961-24del)
c.517-27_517-24del (n.517-27_517-24del)
dbSNP
17g.7670741G>ACA624725918TP53c.994-26C>T (n.994-26C>T)
c.598-26C>T (n.598-26C>T)
c.715-26C>T (n.715-26C>T)
c.973-26C>T (n.973-26C>T)
c.993+2794C>T (n.993+2794C>T)
c.782+3440C>T (n.782+3440C>T)
c.*101-26C>T (n.*101-26C>T)
c.*13-26C>T (n.*13-26C>T)
c.54-1051C>T
c.877-26C>T (n.877-26C>T)
c.961-26C>T (n.961-26C>T)
c.517-26C>T (n.517-26C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7670741G>CCA2635872118TP53c.994-26C>G (n.994-26C>G)
c.598-26C>G (n.598-26C>G)
c.715-26C>G (n.715-26C>G)
c.973-26C>G (n.973-26C>G)
c.993+2794C>G (n.993+2794C>G)
c.782+3440C>G (n.782+3440C>G)
c.*101-26C>G (n.*101-26C>G)
c.*13-26C>G (n.*13-26C>G)
c.54-1051C>G
c.877-26C>G (n.877-26C>G)
c.961-26C>G (n.961-26C>G)
c.517-26C>G (n.517-26C>G)
gnomAD v4
17g.7670741G=CA2245943357TP53c.994-26C= (n.994-26C=)
c.598-26C= (n.598-26C=)
c.715-26C= (n.715-26C=)
c.973-26C= (n.973-26C=)
c.993+2794C= (n.993+2794C=)
c.782+3440C= (n.782+3440C=)
c.*101-26C= (n.*101-26C=)
c.*13-26C= (n.*13-26C=)
c.54-1051C=
c.877-26C= (n.877-26C=)
c.961-26C= (n.961-26C=)
c.517-26C= (n.517-26C=)
17g.7670741G>TCA2635872119TP53c.994-26C>A (n.994-26C>A)
c.598-26C>A (n.598-26C>A)
c.715-26C>A (n.715-26C>A)
c.973-26C>A (n.973-26C>A)
c.993+2794C>A (n.993+2794C>A)
c.782+3440C>A (n.782+3440C>A)
c.*101-26C>A (n.*101-26C>A)
c.*13-26C>A (n.*13-26C>A)
c.54-1051C>A
c.877-26C>A (n.877-26C>A)
c.961-26C>A (n.961-26C>A)
c.517-26C>A (n.517-26C>A)
gnomAD v4
17g.7670742T>ACA2576230530TP53c.994-27A>T (n.994-27A>T)
c.598-27A>T (n.598-27A>T)
c.715-27A>T (n.715-27A>T)
c.973-27A>T (n.973-27A>T)
c.993+2793A>T (n.993+2793A>T)
c.782+3439A>T (n.782+3439A>T)
c.*101-27A>T (n.*101-27A>T)
c.*13-27A>T (n.*13-27A>T)
c.54-1052A>T
c.877-27A>T (n.877-27A>T)
c.961-27A>T (n.961-27A>T)
c.517-27A>T (n.517-27A>T)
17g.7670743A>GCA2733135334TP53c.994-28T>C (n.994-28T>C)
c.598-28T>C (n.598-28T>C)
c.715-28T>C (n.715-28T>C)
c.973-28T>C (n.973-28T>C)
c.993+2792T>C (n.993+2792T>C)
c.782+3438T>C (n.782+3438T>C)
c.*101-28T>C (n.*101-28T>C)
c.*13-28T>C (n.*13-28T>C)
c.54-1053T>C
c.877-28T>C (n.877-28T>C)
c.961-28T>C (n.961-28T>C)
c.517-28T>C (n.517-28T>C)
dbSNP
17g.7670744A=CA2245943359TP53c.994-29T= (n.994-29T=)
c.598-29T= (n.598-29T=)
c.715-29T= (n.715-29T=)
c.973-29T= (n.973-29T=)
c.993+2791T= (n.993+2791T=)
c.782+3437T= (n.782+3437T=)
c.*101-29T= (n.*101-29T=)
c.*13-29T= (n.*13-29T=)
c.54-1054T=
c.877-29T= (n.877-29T=)
c.961-29T= (n.961-29T=)
c.517-29T= (n.517-29T=)
17g.7670744A>GCA624725920TP53c.994-29T>C (n.994-29T>C)
c.598-29T>C (n.598-29T>C)
c.715-29T>C (n.715-29T>C)
c.973-29T>C (n.973-29T>C)
c.993+2791T>C (n.993+2791T>C)
c.782+3437T>C (n.782+3437T>C)
c.*101-29T>C (n.*101-29T>C)
c.*13-29T>C (n.*13-29T>C)
c.54-1054T>C
c.877-29T>C (n.877-29T>C)
c.961-29T>C (n.961-29T>C)
c.517-29T>C (n.517-29T>C)
dbSNP gnomAD v2 gnomAD v4
17g.7670745G>ACA624725921TP53c.994-30C>T (n.994-30C>T)
c.598-30C>T (n.598-30C>T)
c.715-30C>T (n.715-30C>T)
c.973-30C>T (n.973-30C>T)
c.993+2790C>T (n.993+2790C>T)
c.782+3436C>T (n.782+3436C>T)
c.*101-30C>T (n.*101-30C>T)
c.*13-30C>T (n.*13-30C>T)
c.54-1055C>T
c.877-30C>T (n.877-30C>T)
c.961-30C>T (n.961-30C>T)
c.517-30C>T (n.517-30C>T)
dbSNP gnomAD v2
17g.7670745G>CCA2732944964TP53c.994-30C>G (n.994-30C>G)
c.598-30C>G (n.598-30C>G)
c.715-30C>G (n.715-30C>G)
c.973-30C>G (n.973-30C>G)
c.993+2790C>G (n.993+2790C>G)
c.782+3436C>G (n.782+3436C>G)
c.*101-30C>G (n.*101-30C>G)
c.*13-30C>G (n.*13-30C>G)
c.54-1055C>G
c.877-30C>G (n.877-30C>G)
c.961-30C>G (n.961-30C>G)
c.517-30C>G (n.517-30C>G)
dbSNP
17g.7670745G=CA2245943365TP53c.994-30C= (n.994-30C=)
c.598-30C= (n.598-30C=)
c.715-30C= (n.715-30C=)
c.973-30C= (n.973-30C=)
c.993+2790C= (n.993+2790C=)
c.782+3436C= (n.782+3436C=)
c.*101-30C= (n.*101-30C=)
c.*13-30C= (n.*13-30C=)
c.54-1055C=
c.877-30C= (n.877-30C=)
c.961-30C= (n.961-30C=)
c.517-30C= (n.517-30C=)
17g.7670745G>TCA2576230531TP53c.994-30C>A (n.994-30C>A)
c.598-30C>A (n.598-30C>A)
c.715-30C>A (n.715-30C>A)
c.973-30C>A (n.973-30C>A)
c.993+2790C>A (n.993+2790C>A)
c.782+3436C>A (n.782+3436C>A)
c.*101-30C>A (n.*101-30C>A)
c.*13-30C>A (n.*13-30C>A)
c.54-1055C>A
c.877-30C>A (n.877-30C>A)
c.961-30C>A (n.961-30C>A)
c.517-30C>A (n.517-30C>A)
gnomAD v4
17g.7670746T>ACA2732957897TP53c.994-31A>T (n.994-31A>T)
c.598-31A>T (n.598-31A>T)
c.715-31A>T (n.715-31A>T)
c.973-31A>T (n.973-31A>T)
c.993+2789A>T (n.993+2789A>T)
c.782+3435A>T (n.782+3435A>T)
c.*101-31A>T (n.*101-31A>T)
c.*13-31A>T (n.*13-31A>T)
c.54-1056A>T
c.877-31A>T (n.877-31A>T)
c.961-31A>T (n.961-31A>T)
c.517-31A>T (n.517-31A>T)
dbSNP
17g.7670746T>CCA624725923TP53c.994-31A>G (n.994-31A>G)
c.598-31A>G (n.598-31A>G)
c.715-31A>G (n.715-31A>G)
c.973-31A>G (n.973-31A>G)
c.993+2789A>G (n.993+2789A>G)
c.782+3435A>G (n.782+3435A>G)
c.*101-31A>G (n.*101-31A>G)
c.*13-31A>G (n.*13-31A>G)
c.54-1056A>G
c.877-31A>G (n.877-31A>G)
c.961-31A>G (n.961-31A>G)
c.517-31A>G (n.517-31A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7670746T>GCA2732957898TP53c.994-31A>C (n.994-31A>C)
c.598-31A>C (n.598-31A>C)
c.715-31A>C (n.715-31A>C)
c.973-31A>C (n.973-31A>C)
c.993+2789A>C (n.993+2789A>C)
c.782+3435A>C (n.782+3435A>C)
c.*101-31A>C (n.*101-31A>C)
c.*13-31A>C (n.*13-31A>C)
c.54-1056A>C
c.877-31A>C (n.877-31A>C)
c.961-31A>C (n.961-31A>C)
c.517-31A>C (n.517-31A>C)
dbSNP
17g.7670746T=CA2245943367TP53c.994-31A= (n.994-31A=)
c.598-31A= (n.598-31A=)
c.715-31A= (n.715-31A=)
c.973-31A= (n.973-31A=)
c.993+2789A= (n.993+2789A=)
c.782+3435A= (n.782+3435A=)
c.*101-31A= (n.*101-31A=)
c.*13-31A= (n.*13-31A=)
c.54-1056A=
c.877-31A= (n.877-31A=)
c.961-31A= (n.961-31A=)
c.517-31A= (n.517-31A=)
17g.7670747A=CA2245943368TP53c.994-32T= (n.994-32T=)
c.598-32T= (n.598-32T=)
c.715-32T= (n.715-32T=)
c.973-32T= (n.973-32T=)
c.993+2788T= (n.993+2788T=)
c.782+3434T= (n.782+3434T=)
c.*101-32T= (n.*101-32T=)
c.*13-32T= (n.*13-32T=)
c.54-1057T=
c.877-32T= (n.877-32T=)
c.961-32T= (n.961-32T=)
c.517-32T= (n.517-32T=)
17g.7670747A>CCA2635872143TP53c.994-32T>G (n.994-32T>G)
c.598-32T>G (n.598-32T>G)
c.715-32T>G (n.715-32T>G)
c.973-32T>G (n.973-32T>G)
c.993+2788T>G (n.993+2788T>G)
c.782+3434T>G (n.782+3434T>G)
c.*101-32T>G (n.*101-32T>G)
c.*13-32T>G (n.*13-32T>G)
c.54-1057T>G
c.877-32T>G (n.877-32T>G)
c.961-32T>G (n.961-32T>G)
c.517-32T>G (n.517-32T>G)
gnomAD v4
17g.7670747A>GCA000919TP53c.994-32T>C (n.994-32T>C)
c.598-32T>C (n.598-32T>C)
c.715-32T>C (n.715-32T>C)
c.973-32T>C (n.973-32T>C)
c.993+2788T>C (n.993+2788T>C)
c.782+3434T>C (n.782+3434T>C)
c.*101-32T>C (n.*101-32T>C)
c.*13-32T>C (n.*13-32T>C)
c.54-1057T>C
c.877-32T>C (n.877-32T>C)
c.961-32T>C (n.961-32T>C)
c.517-32T>C (n.517-32T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7670749A=CA2245943371TP53c.994-34T= (n.994-34T=)
c.598-34T= (n.598-34T=)
c.715-34T= (n.715-34T=)
c.973-34T= (n.973-34T=)
c.993+2786T= (n.993+2786T=)
c.782+3432T= (n.782+3432T=)
c.*101-34T= (n.*101-34T=)
c.*13-34T= (n.*13-34T=)
c.54-1059T=
c.877-34T= (n.877-34T=)
c.961-34T= (n.961-34T=)
c.517-34T= (n.517-34T=)
17g.7670749A>CCA2576230532TP53c.994-34T>G (n.994-34T>G)
c.598-34T>G (n.598-34T>G)
c.715-34T>G (n.715-34T>G)
c.973-34T>G (n.973-34T>G)
c.993+2786T>G (n.993+2786T>G)
c.782+3432T>G (n.782+3432T>G)
c.*101-34T>G (n.*101-34T>G)
c.*13-34T>G (n.*13-34T>G)
c.54-1059T>G
c.877-34T>G (n.877-34T>G)
c.961-34T>G (n.961-34T>G)
c.517-34T>G (n.517-34T>G)
17g.7670749A>GCA2245943372TP53c.994-34T>C (n.994-34T>C)
c.598-34T>C (n.598-34T>C)
c.715-34T>C (n.715-34T>C)
c.973-34T>C (n.973-34T>C)
c.993+2786T>C (n.993+2786T>C)
c.782+3432T>C (n.782+3432T>C)
c.*101-34T>C (n.*101-34T>C)
c.*13-34T>C (n.*13-34T>C)
c.54-1059T>C
c.877-34T>C (n.877-34T>C)
c.961-34T>C (n.961-34T>C)
c.517-34T>C (n.517-34T>C)
dbSNP

Number of alleles fetched