| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
| 17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
| 17 | g.7670616_7670715del | CA645587290 | TP53 | c.995_1094del (p.Ile332ThrfsTer5) c.599_698del (p.Ile200ThrfsTer5) c.716_815del (p.Ile239ThrfsTer5) c.974_1073del (p.Ile325ThrfsTer5) c.993+2821_993+2920del (n.993+2821_993+2920del) c.782+3467_782+3566del (n.782+3467_782+3566del) c.*102_*201del (n.*102_*201del) c.*14_*113del (n.*14_*113del) c.54-1024_54-925del c.878_977del (p.Ile293ThrfsTer5) c.962_1061del (p.Ile321ThrfsTer5) c.518_617del (p.Ile173ThrfsTer5) c.878_977del (p.Ile293ThrfsTer23) | COSMIC |
| 17 | g.7670628_7670666del | CA645587292 | TP53 | c.1043_1081del (p.Leu348_Gly361delinsTrp) c.647_685del (p.Leu216_Gly229delinsTrp) c.764_802del (p.Leu255_Gly268delinsTrp) c.1022_1060del (p.Leu341_Gly354delinsTrp) c.993+2869_993+2907del (n.993+2869_993+2907del) c.782+3515_782+3553del (n.782+3515_782+3553del) c.*150_*188del (n.*150_*188del) c.*62_*100del (n.*62_*100del) c.54-976_54-938del c.926_964del (p.Leu309_Gly322delinsTrp) c.1010_1048del (p.Leu337_Gly350delinsTrp) c.566_604del (p.Leu189_Gly202delinsTrp) | COSMIC |
| 17 | g.7670642_7670677del | CA645587293 | TP53 | c.1035_1070del (p.Asn345_Gly356del) c.639_674del (p.Asn213_Gly224del) c.756_791del (p.Asn252_Gly263del) c.1014_1049del (p.Asn338_Gly349del) c.993+2861_993+2896del (n.993+2861_993+2896del) c.782+3507_782+3542del (n.782+3507_782+3542del) c.*142_*177del (n.*142_*177del) c.*54_*89del (n.*54_*89del) c.54-984_54-949del c.918_953del (p.Asn306_Gly317del) c.1002_1037del (p.Asn334_Gly345del) c.558_593del (p.Asn186_Gly197del) | COSMIC COSMIC |
| 17 | g.7670640_7670670delinsAAGGT | CA645587294 | TP53 | c.1039_1069delinsACCTT (p.Ala347ThrfsTer26) c.643_673delinsACCTT (p.Ala215ThrfsTer26) c.760_790delinsACCTT (p.Ala254ThrfsTer26) c.1018_1048delinsACCTT (p.Ala340ThrfsTer26) c.993+2865_993+2895delinsACCTT (n.993+2865_993+2895delinsACCTT) c.782+3511_782+3541delinsACCTT (n.782+3511_782+3541delinsACCTT) c.*146_*176delinsACCTT (n.*146_*176delinsACCTT) c.*58_*88delinsACCTT (n.*58_*88delinsACCTT) c.54-980_54-950delinsACCTT c.922_952delinsACCTT (p.Ala308ThrfsTer26) c.1006_1036delinsACCTT (p.Ala336ThrfsTer26) c.562_592delinsACCTT (p.Ala188ThrfsTer26) c.922_952delinsACCTT (p.Ala308ThrfsTer31) | COSMIC |
| 17 | g.7670645_7670666delinsTGC | CA2695200372 | TP53 | c.1043_1064delinsGCA (p.Leu348CysfsTer16) c.647_668delinsGCA (p.Leu216CysfsTer16) c.764_785delinsGCA (p.Leu255CysfsTer16) c.1022_1043delinsGCA (p.Leu341CysfsTer16) c.993+2869_993+2890delinsGCA (n.993+2869_993+2890delinsGCA) c.782+3515_782+3536delinsGCA (n.782+3515_782+3536delinsGCA) c.*150_*171delinsGCA (n.*150_*171delinsGCA) c.*62_*83delinsGCA (n.*62_*83delinsGCA) c.54-976_54-955delinsGCA c.926_947delinsGCA (p.Leu309CysfsTer16) c.1010_1031delinsGCA (p.Leu337CysfsTer16) c.566_587delinsGCA (p.Leu189CysfsTer16) c.926_947delinsGCA (p.Leu309CysfsTer?) | |
| 17 | g.7670648_7670666del | CA645587295 | TP53 | c.1043_1061del (p.Leu348TrpfsTer16) c.647_665del (p.Leu216TrpfsTer16) c.764_782del (p.Leu255TrpfsTer16) c.1022_1040del (p.Leu341TrpfsTer16) c.993+2869_993+2887del (n.993+2869_993+2887del) c.782+3515_782+3533del (n.782+3515_782+3533del) c.*150_*168del (n.*150_*168del) c.*62_*80del (n.*62_*80del) c.54-976_54-958del c.926_944del (p.Leu309TrpfsTer16) c.1010_1028del (p.Leu337TrpfsTer16) c.566_584del (p.Leu189TrpfsTer16) c.926_944del (p.Leu309TrpfsTer?) | COSMIC |
| 17 | g.7670651_7670661del | CA645587296 | TP53 | c.1049_1059del (p.Leu350ProfsTer28) c.653_663del (p.Leu218ProfsTer28) c.770_780del (p.Leu257ProfsTer28) c.1028_1038del (p.Leu343ProfsTer28) c.993+2875_993+2885del (n.993+2875_993+2885del) c.782+3521_782+3531del (n.782+3521_782+3531del) c.*156_*166del (n.*156_*166del) c.*68_*78del (n.*68_*78del) c.54-970_54-960del c.932_942del (p.Leu311ProfsTer28) c.1016_1026del (p.Leu339ProfsTer28) c.572_582del (p.Leu191ProfsTer28) c.932_942del (p.Leu311ProfsTer?) | COSMIC |
| 17 | g.7670653_7670671del | CA645587297 | TP53 | c.1039_1057del (p.Ala347ProfsTer17) c.643_661del (p.Ala215ProfsTer17) c.760_778del (p.Ala254ProfsTer17) c.1018_1036del (p.Ala340ProfsTer17) c.993+2865_993+2883del (n.993+2865_993+2883del) c.782+3511_782+3529del (n.782+3511_782+3529del) c.*146_*164del (n.*146_*164del) c.*58_*76del (n.*58_*76del) c.54-980_54-962del c.922_940del (p.Ala308ProfsTer17) c.1006_1024del (p.Ala336ProfsTer17) c.562_580del (p.Ala188ProfsTer17) c.922_940del (p.Ala308ProfsTer?) | COSMIC |
| 17 | g.7670654_7670663del | CA2573154613 | TP53 | c.1046_1055del (p.Glu349ValfsTer18) c.650_659del (p.Glu217ValfsTer18) c.767_776del (p.Glu256ValfsTer18) c.1025_1034del (p.Glu342ValfsTer18) c.993+2872_993+2881del (n.993+2872_993+2881del) c.782+3518_782+3527del (n.782+3518_782+3527del) c.*153_*162del (n.*153_*162del) c.*65_*74del (n.*65_*74del) c.54-973_54-964del c.929_938del (p.Glu310ValfsTer18) c.1013_1022del (p.Glu338ValfsTer18) c.569_578del (p.Glu190ValfsTer18) c.929_938del (p.Glu310ValfsTer?) | ClinVar dbSNP |
| 17 | g.7670655_7670667del | CA2733133570 | TP53 | c.1042_1054del (p.Leu348MetfsTer18) c.646_658del (p.Leu216MetfsTer18) c.763_775del (p.Leu255MetfsTer18) c.1021_1033del (p.Leu341MetfsTer18) c.993+2868_993+2880del (n.993+2868_993+2880del) c.782+3514_782+3526del (n.782+3514_782+3526del) c.*149_*161del (n.*149_*161del) c.*61_*73del (n.*61_*73del) c.54-977_54-965del c.925_937del (p.Leu309MetfsTer18) c.1009_1021del (p.Leu337MetfsTer18) c.565_577del (p.Leu189MetfsTer18) c.925_937del (p.Leu309MetfsTer?) | dbSNP |
| 17 | g.7670658_7670672del | CA2733133408 | TP53 | c.1040_1054del (p.Ala347_Lys351del) c.644_658del (p.Ala215_Lys219del) c.761_775del (p.Ala254_Lys258del) c.1019_1033del (p.Ala340_Lys344del) c.993+2866_993+2880del (n.993+2866_993+2880del) c.782+3512_782+3526del (n.782+3512_782+3526del) c.*147_*161del (n.*147_*161del) c.*59_*73del (n.*59_*73del) c.54-979_54-965del c.923_937del (p.Ala308_Lys312del) c.1007_1021del (p.Ala336_Lys340del) c.563_577del (p.Ala188_Lys192del) | dbSNP |
| 17 | g.7670658del | CA2499224950 | TP53 | c.1052del (p.Lys351ArgfsTer19) c.656del (p.Lys219ArgfsTer19) c.773del (p.Lys258ArgfsTer19) c.1031del (p.Lys344ArgfsTer19) c.993+2878del (n.993+2878del) c.782+3524del (n.782+3524del) c.*159del (n.*159del) c.*71del (n.*71del) c.54-967del c.935del (p.Lys312ArgfsTer19) c.1019del (p.Lys340ArgfsTer19) c.575del (p.Lys192ArgfsTer19) c.935del (p.Lys312ArgfsTer?) | ClinVar dbSNP |
| 17 | g.7670657_7670665delinsTTGAGTTCC | CA2245942644 | TP53 | c.1044_1052delinsGGAACTCAA (p.Leu348=) c.648_656delinsGGAACTCAA (p.Leu216=) c.765_773delinsGGAACTCAA (p.Leu255=) c.1023_1031delinsGGAACTCAA (p.Leu341=) c.993+2870_993+2878delinsGGAACTCAA (n.993+2870_993+2878delinsGGAACTCAA) c.782+3516_782+3524delinsGGAACTCAA (n.782+3516_782+3524delinsGGAACTCAA) c.*151_*159delinsGGAACTCAA (n.*151_*159delinsGGAACTCAA) c.*63_*71delinsGGAACTCAA (n.*63_*71delinsGGAACTCAA) c.54-975_54-967delinsGGAACTCAA c.927_935delinsGGAACTCAA (p.Leu309=) c.1011_1019delinsGGAACTCAA (p.Leu337=) c.567_575delinsGGAACTCAA (p.Leu189=) | |
| 17 | g.7670657_7670666delinsTTGAGTTCCA | CA2245942655 | TP53 | c.1043_1052delinsTGGAACTCAA (p.Leu348=) c.647_656delinsTGGAACTCAA (p.Leu216=) c.764_773delinsTGGAACTCAA (p.Leu255=) c.1022_1031delinsTGGAACTCAA (p.Leu341=) c.993+2869_993+2878delinsTGGAACTCAA (n.993+2869_993+2878delinsTGGAACTCAA) c.782+3515_782+3524delinsTGGAACTCAA (n.782+3515_782+3524delinsTGGAACTCAA) c.*150_*159delinsTGGAACTCAA (n.*150_*159delinsTGGAACTCAA) c.*62_*71delinsTGGAACTCAA (n.*62_*71delinsTGGAACTCAA) c.54-976_54-967delinsTGGAACTCAA c.926_935delinsTGGAACTCAA (p.Leu309=) c.1010_1019delinsTGGAACTCAA (p.Leu337=) c.566_575delinsTGGAACTCAA (p.Leu189=) | |
| 17 | g.7670658T>A | CA397832311 | TP53 | c.1051A>T (p.Lys351Ter) c.655A>T (p.Lys219Ter) c.772A>T (p.Lys258Ter) c.1030A>T (p.Lys344Ter) c.993+2877A>T (n.993+2877A>T) c.782+3523A>T (n.782+3523A>T) c.*158A>T (n.*158A>T) c.*70A>T (n.*70A>T) c.54-968A>T c.934A>T (p.Lys312Ter) c.1018A>T (p.Lys340Ter) c.574A>T (p.Lys192Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7670658T>C | CA000023 | TP53 | c.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 |
| 17 | g.7670658T>G | CA397832315 | TP53 | c.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) | |
| 17 | g.7670658T= | CA2245942676 | TP53 | c.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=) | |
| 17 | g.7670658_7670660delinsTGA | CA2245942677 | TP53 | c.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=) | |
| 17 | g.7670658_7670665del | CA16603358 | TP53 | c.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 |
| 17 | g.7670658_7670666delinsC | CA891844038 | TP53 | c.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 |
| 17 | g.7670659del | CA497712546 | TP53 | c.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 |
| 17 | g.7670659G>A | CA497712545 | TP53 | c.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 |
| 17 | g.7670659G>C | CA497712547 | TP53 | c.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 |
| 17 | g.7670659G>T | CA497712548 | TP53 | c.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=) | |
| 17 | g.7670660_7670661del | CA645369694 | TP53 | c.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 |
| 17 | g.7670660A>C | CA397832335 | TP53 | c.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) | |
| 17 | g.7670660A>G | CA397832338 | TP53 | c.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 |
| 17 | g.7670660A>T | CA397832322 | TP53 | c.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 |
| 17 | g.7670661G>A | CA397832343 | TP53 | c.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 |
| 17 | g.7670661G>C | CA000823 | TP53 | c.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 |
| 17 | g.7670661G= | CA2245942705 | TP53 | c.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=) | |
| 17 | g.7670661G>T | CA397832357 | TP53 | c.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 |
| 17 | g.7670662T>A | CA397832360 | TP53 | c.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 |
| 17 | g.7670662T>C | CA497712551 | TP53 | c.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=) | |
| 17 | g.7670662T>G | CA397832362 | TP53 | c.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 |
| 17 | g.7670663T>A | CA397832367 | TP53 | c.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) | |
| 17 | g.7670663T>C | CA397832369 | TP53 | c.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 |
| 17 | g.7670663T>G | CA397832373 | TP53 | c.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) | |
| 17 | g.7670664C>A | CA397832377 | TP53 | c.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 |
| 17 | g.7670664C= | CA2245942730 | TP53 | c.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=) | |
| 17 | g.7670664C>G | CA397832378 | TP53 | c.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 |
| 17 | g.7670664C>T | CA397832380 | TP53 | c.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 |
| 17 | g.7670665del | CA497712556 | TP53 | c.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 |
| 17 | g.7670665C>A | CA397832382 | TP53 | c.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 |
| 17 | g.7670665C>G | CA397832388 | TP53 | c.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) | |
| 17 | g.7670665C>T | CA497712558 | TP53 | c.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=) | dbSNP |
| 17 | g.7670666A>C | CA397832394 | TP53 | c.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 |