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.7670631dup | CA2695224214 | TP53 | c.1083dup (p.Ser362GlufsTer20) c.687dup (p.Ser230GlufsTer20) c.804dup (p.Ser269GlufsTer20) c.1062dup (p.Ser355GlufsTer20) c.993+2909dup (n.993+2909dup) c.782+3555dup (n.782+3555dup) c.*190dup (n.*190dup) c.*102dup (n.*102dup) c.54-936dup c.966dup (p.Ser323GlufsTer20) c.1050dup (p.Ser351GlufsTer20) c.606dup (p.Ser203GlufsTer20) c.966dup (p.Ser323GlufsTer25) | |
17 | g.7670631del | CA645587291 | TP53 | c.1083del (p.Ser362AlafsTer8) c.687del (p.Ser230AlafsTer8) c.804del (p.Ser269AlafsTer8) c.1062del (p.Ser355AlafsTer8) c.993+2909del (n.993+2909del) c.782+3555del (n.782+3555del) c.*190del (n.*190del) c.*102del (n.*102del) c.54-936del c.966del (p.Ser323AlafsTer8) c.1050del (p.Ser351AlafsTer8) c.606del (p.Ser203AlafsTer8) c.966del (p.Ser323AlafsTer26) | ClinVar dbSNP gnomAD v4 COSMIC 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.7670629C>A | CA497712508 | TP53 | c.1080G>T (p.Gly360=) c.684G>T (p.Gly228=) c.801G>T (p.Gly267=) c.1059G>T (p.Gly353=) c.993+2906G>T (n.993+2906G>T) c.782+3552G>T (n.782+3552G>T) c.*187G>T (n.*187G>T) c.*99G>T (n.*99G>T) c.54-939G>T c.963G>T (p.Gly321=) c.1047G>T (p.Gly349=) c.603G>T (p.Gly201=) | ClinVar dbSNP |
17 | g.7670629C>G | CA497712509 | TP53 | c.1080G>C (p.Gly360=) c.684G>C (p.Gly228=) c.801G>C (p.Gly267=) c.1059G>C (p.Gly353=) c.993+2906G>C (n.993+2906G>C) c.782+3552G>C (n.782+3552G>C) c.*187G>C (n.*187G>C) c.*99G>C (n.*99G>C) c.54-939G>C c.963G>C (p.Gly321=) c.1047G>C (p.Gly349=) c.603G>C (p.Gly201=) | ClinVar dbSNP |
17 | g.7670629C>T | CA497712510 | TP53 | c.1080G>A (p.Gly360=) c.684G>A (p.Gly228=) c.801G>A (p.Gly267=) c.1059G>A (p.Gly353=) c.993+2906G>A (n.993+2906G>A) c.782+3552G>A (n.782+3552G>A) c.*187G>A (n.*187G>A) c.*99G>A (n.*99G>A) c.54-939G>A c.963G>A (p.Gly321=) c.1047G>A (p.Gly349=) c.603G>A (p.Gly201=) | ClinVar gnomAD v4 |
17 | g.7670630C>A | CA000030 | TP53 | c.1079G>T (p.Gly360Val) c.683G>T (p.Gly228Val) c.800G>T (p.Gly267Val) c.1058G>T (p.Gly353Val) c.993+2905G>T (n.993+2905G>T) c.782+3551G>T (n.782+3551G>T) c.*186G>T (n.*186G>T) c.*98G>T (n.*98G>T) c.54-940G>T c.962G>T (p.Gly321Val) c.1046G>T (p.Gly349Val) c.602G>T (p.Gly201Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670630C= | CA2245942440 | TP53 | c.1079G= (p.Gly360=) c.683G= (p.Gly228=) c.800G= (p.Gly267=) c.1058G= (p.Gly353=) c.993+2905G= (n.993+2905G=) c.782+3551G= (n.782+3551G=) c.*186G= (n.*186G=) c.*98G= (n.*98G=) c.54-940G= c.962G= (p.Gly321=) c.1046G= (p.Gly349=) c.602G= (p.Gly201=) | |
17 | g.7670630C>G | CA000029 | TP53 | c.1079G>C (p.Gly360Ala) c.683G>C (p.Gly228Ala) c.800G>C (p.Gly267Ala) c.1058G>C (p.Gly353Ala) c.993+2905G>C (n.993+2905G>C) c.782+3551G>C (n.782+3551G>C) c.*186G>C (n.*186G>C) c.*98G>C (n.*98G>C) c.54-940G>C c.962G>C (p.Gly321Ala) c.1046G>C (p.Gly349Ala) c.602G>C (p.Gly201Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670630C>T | CA10580905 | TP53 | c.1079G>A (p.Gly360Glu) c.683G>A (p.Gly228Glu) c.800G>A (p.Gly267Glu) c.1058G>A (p.Gly353Glu) c.993+2905G>A (n.993+2905G>A) c.782+3551G>A (n.782+3551G>A) c.*186G>A (n.*186G>A) c.*98G>A (n.*98G>A) c.54-940G>A c.962G>A (p.Gly321Glu) c.1046G>A (p.Gly349Glu) c.602G>A (p.Gly201Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7670631C>A | CA397831928 | TP53 | c.1078G>T (p.Gly360Trp) c.682G>T (p.Gly228Trp) c.799G>T (p.Gly267Trp) c.1057G>T (p.Gly353Trp) c.993+2904G>T (n.993+2904G>T) c.782+3550G>T (n.782+3550G>T) c.*185G>T (n.*185G>T) c.*97G>T (n.*97G>T) c.54-941G>T c.961G>T (p.Gly321Trp) c.1045G>T (p.Gly349Trp) c.601G>T (p.Gly201Trp) | ClinVar dbSNP |
17 | g.7670631C= | CA2245942456 | TP53 | c.1078G= (p.Gly360=) c.682G= (p.Gly228=) c.799G= (p.Gly267=) c.1057G= (p.Gly353=) c.993+2904G= (n.993+2904G=) c.782+3550G= (n.782+3550G=) c.*185G= (n.*185G=) c.*97G= (n.*97G=) c.54-941G= c.961G= (p.Gly321=) c.1045G= (p.Gly349=) c.601G= (p.Gly201=) | |
17 | g.7670631C>G | CA397831931 | TP53 | c.1078G>C (p.Gly360Arg) c.682G>C (p.Gly228Arg) c.799G>C (p.Gly267Arg) c.1057G>C (p.Gly353Arg) c.993+2904G>C (n.993+2904G>C) c.782+3550G>C (n.782+3550G>C) c.*185G>C (n.*185G>C) c.*97G>C (n.*97G>C) c.54-941G>C c.961G>C (p.Gly321Arg) c.1045G>C (p.Gly349Arg) c.601G>C (p.Gly201Arg) | ClinVar dbSNP |
17 | g.7670631C>T | CA000028 | TP53 | c.1078G>A (p.Gly360Arg) c.682G>A (p.Gly228Arg) c.799G>A (p.Gly267Arg) c.1057G>A (p.Gly353Arg) c.993+2904G>A (n.993+2904G>A) c.782+3550G>A (n.782+3550G>A) c.*185G>A (n.*185G>A) c.*97G>A (n.*97G>A) c.54-941G>A c.961G>A (p.Gly321Arg) c.1045G>A (p.Gly349Arg) c.601G>A (p.Gly201Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670631_7670632delinsCT | CA2245942462 | TP53 | c.1077_1078delinsAG (p.Pro359=) c.681_682delinsAG (p.Pro227=) c.798_799delinsAG (p.Pro266=) c.1056_1057delinsAG (p.Pro352=) c.993+2903_993+2904delinsAG (n.993+2903_993+2904delinsAG) c.782+3549_782+3550delinsAG (n.782+3549_782+3550delinsAG) c.*184_*185delinsAG (n.*184_*185delinsAG) c.*96_*97delinsAG (n.*96_*97delinsAG) c.54-942_54-941delinsAG c.960_961delinsAG (p.Pro320=) c.1044_1045delinsAG (p.Pro348=) c.600_601delinsAG (p.Pro200=) | |
17 | g.7670632del | CA658824695 | TP53 | c.1077del (p.Ser362AlafsTer8) c.681del (p.Ser230AlafsTer8) c.798del (p.Ser269AlafsTer8) c.1056del (p.Ser355AlafsTer8) c.993+2903del (n.993+2903del) c.782+3549del (n.782+3549del) c.*184del (n.*184del) c.*96del (n.*96del) c.54-942del c.960del (p.Ser323AlafsTer8) c.1044del (p.Ser351AlafsTer8) c.600del (p.Ser203AlafsTer8) c.960del (p.Ser323AlafsTer26) | ClinVar dbSNP |
17 | g.7670632T>A | CA497712511 | TP53 | c.1077A>T (p.Pro359=) c.681A>T (p.Pro227=) c.798A>T (p.Pro266=) c.1056A>T (p.Pro352=) c.993+2903A>T (n.993+2903A>T) c.782+3549A>T (n.782+3549A>T) c.*184A>T (n.*184A>T) c.*96A>T (n.*96A>T) c.54-942A>T c.960A>T (p.Pro320=) c.1044A>T (p.Pro348=) c.600A>T (p.Pro200=) | |
17 | g.7670632T>C | CA000783 | TP53 | c.1077A>G (p.Pro359=) c.681A>G (p.Pro227=) c.798A>G (p.Pro266=) c.1056A>G (p.Pro352=) c.993+2903A>G (n.993+2903A>G) c.782+3549A>G (n.782+3549A>G) c.*184A>G (n.*184A>G) c.*96A>G (n.*96A>G) c.54-942A>G c.960A>G (p.Pro320=) c.1044A>G (p.Pro348=) c.600A>G (p.Pro200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670632T>G | CA497712512 | TP53 | c.1077A>C (p.Pro359=) c.681A>C (p.Pro227=) c.798A>C (p.Pro266=) c.1056A>C (p.Pro352=) c.993+2903A>C (n.993+2903A>C) c.782+3549A>C (n.782+3549A>C) c.*184A>C (n.*184A>C) c.*96A>C (n.*96A>C) c.54-942A>C c.960A>C (p.Pro320=) c.1044A>C (p.Pro348=) c.600A>C (p.Pro200=) | ClinVar |
17 | g.7670632T= | CA2245942476 | TP53 | c.1077A= (p.Pro359=) c.681A= (p.Pro227=) c.798A= (p.Pro266=) c.1056A= (p.Pro352=) c.993+2903A= (n.993+2903A=) c.782+3549A= (n.782+3549A=) c.*184A= (n.*184A=) c.*96A= (n.*96A=) c.54-942A= c.960A= (p.Pro320=) c.1044A= (p.Pro348=) c.600A= (p.Pro200=) | |
17 | g.7670633G>A | CA397831943 | TP53 | c.1076C>T (p.Pro359Leu) c.680C>T (p.Pro227Leu) c.797C>T (p.Pro266Leu) c.1055C>T (p.Pro352Leu) c.993+2902C>T (n.993+2902C>T) c.782+3548C>T (n.782+3548C>T) c.*183C>T (n.*183C>T) c.*95C>T (n.*95C>T) c.54-943C>T c.959C>T (p.Pro320Leu) c.1043C>T (p.Pro348Leu) c.599C>T (p.Pro200Leu) | dbSNP gnomAD v2 |
17 | g.7670633G>C | CA397831936 | TP53 | c.1076C>G (p.Pro359Arg) c.680C>G (p.Pro227Arg) c.797C>G (p.Pro266Arg) c.1055C>G (p.Pro352Arg) c.993+2902C>G (n.993+2902C>G) c.782+3548C>G (n.782+3548C>G) c.*183C>G (n.*183C>G) c.*95C>G (n.*95C>G) c.54-943C>G c.959C>G (p.Pro320Arg) c.1043C>G (p.Pro348Arg) c.599C>G (p.Pro200Arg) | ClinVar dbSNP |
17 | g.7670633G= | CA2245942486 | TP53 | c.1076C= (p.Pro359=) c.680C= (p.Pro227=) c.797C= (p.Pro266=) c.1055C= (p.Pro352=) c.993+2902C= (n.993+2902C=) c.782+3548C= (n.782+3548C=) c.*183C= (n.*183C=) c.*95C= (n.*95C=) c.54-943C= c.959C= (p.Pro320=) c.1043C= (p.Pro348=) c.599C= (p.Pro200=) | |
17 | g.7670633G>T | CA397831947 | TP53 | c.1076C>A (p.Pro359Gln) c.680C>A (p.Pro227Gln) c.797C>A (p.Pro266Gln) c.1055C>A (p.Pro352Gln) c.993+2902C>A (n.993+2902C>A) c.782+3548C>A (n.782+3548C>A) c.*183C>A (n.*183C>A) c.*95C>A (n.*95C>A) c.54-943C>A c.959C>A (p.Pro320Gln) c.1043C>A (p.Pro348Gln) c.599C>A (p.Pro200Gln) | |
17 | g.7670634G>A | CA397831951 | TP53 | c.1075C>T (p.Pro359Ser) c.679C>T (p.Pro227Ser) c.796C>T (p.Pro266Ser) c.1054C>T (p.Pro352Ser) c.993+2901C>T (n.993+2901C>T) c.782+3547C>T (n.782+3547C>T) c.*182C>T (n.*182C>T) c.*94C>T (n.*94C>T) c.54-944C>T c.958C>T (p.Pro320Ser) c.1042C>T (p.Pro348Ser) c.598C>T (p.Pro200Ser) | dbSNP COSMIC |
17 | g.7670634G>C | CA397831962 | TP53 | c.1075C>G (p.Pro359Ala) c.679C>G (p.Pro227Ala) c.796C>G (p.Pro266Ala) c.1054C>G (p.Pro352Ala) c.993+2901C>G (n.993+2901C>G) c.782+3547C>G (n.782+3547C>G) c.*182C>G (n.*182C>G) c.*94C>G (n.*94C>G) c.54-944C>G c.958C>G (p.Pro320Ala) c.1042C>G (p.Pro348Ala) c.598C>G (p.Pro200Ala) | dbSNP |
17 | g.7670634G>T | CA397831971 | TP53 | c.1075C>A (p.Pro359Thr) c.679C>A (p.Pro227Thr) c.796C>A (p.Pro266Thr) c.1054C>A (p.Pro352Thr) c.993+2901C>A (n.993+2901C>A) c.782+3547C>A (n.782+3547C>A) c.*182C>A (n.*182C>A) c.*94C>A (n.*94C>A) c.54-944C>A c.958C>A (p.Pro320Thr) c.1042C>A (p.Pro348Thr) c.598C>A (p.Pro200Thr) | dbSNP |
17 | g.7670635C>A | CA397831980 | TP53 | c.1074G>T (p.Glu358Asp) c.678G>T (p.Glu226Asp) c.795G>T (p.Glu265Asp) c.1053G>T (p.Glu351Asp) c.993+2900G>T (n.993+2900G>T) c.782+3546G>T (n.782+3546G>T) c.*181G>T (n.*181G>T) c.*93G>T (n.*93G>T) c.54-945G>T c.957G>T (p.Glu319Asp) c.1041G>T (p.Glu347Asp) c.597G>T (p.Glu199Asp) | |
17 | g.7670635C>G | CA397831984 | TP53 | c.1074G>C (p.Glu358Asp) c.678G>C (p.Glu226Asp) c.795G>C (p.Glu265Asp) c.1053G>C (p.Glu351Asp) c.993+2900G>C (n.993+2900G>C) c.782+3546G>C (n.782+3546G>C) c.*181G>C (n.*181G>C) c.*93G>C (n.*93G>C) c.54-945G>C c.957G>C (p.Glu319Asp) c.1041G>C (p.Glu347Asp) c.597G>C (p.Glu199Asp) | dbSNP |
17 | g.7670635C>T | CA497712513 | TP53 | c.1074G>A (p.Glu358=) c.678G>A (p.Glu226=) c.795G>A (p.Glu265=) c.1053G>A (p.Glu351=) c.993+2900G>A (n.993+2900G>A) c.782+3546G>A (n.782+3546G>A) c.*181G>A (n.*181G>A) c.*93G>A (n.*93G>A) c.54-945G>A c.957G>A (p.Glu319=) c.1041G>A (p.Glu347=) c.597G>A (p.Glu199=) | |
17 | g.7670636T>A | CA000790 | TP53 | c.1073A>T (p.Glu358Val) c.677A>T (p.Glu226Val) c.794A>T (p.Glu265Val) c.1052A>T (p.Glu351Val) c.993+2899A>T (n.993+2899A>T) c.782+3545A>T (n.782+3545A>T) c.*180A>T (n.*180A>T) c.*92A>T (n.*92A>T) c.54-946A>T c.956A>T (p.Glu319Val) c.1040A>T (p.Glu347Val) c.596A>T (p.Glu199Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.7670636T>C | CA397831988 | TP53 | c.1073A>G (p.Glu358Gly) c.677A>G (p.Glu226Gly) c.794A>G (p.Glu265Gly) c.1052A>G (p.Glu351Gly) c.993+2899A>G (n.993+2899A>G) c.782+3545A>G (n.782+3545A>G) c.*180A>G (n.*180A>G) c.*92A>G (n.*92A>G) c.54-946A>G c.956A>G (p.Glu319Gly) c.1040A>G (p.Glu347Gly) c.596A>G (p.Glu199Gly) | |
17 | g.7670636T>G | CA397832002 | TP53 | c.1073A>C (p.Glu358Ala) c.677A>C (p.Glu226Ala) c.794A>C (p.Glu265Ala) c.1052A>C (p.Glu351Ala) c.993+2899A>C (n.993+2899A>C) c.782+3545A>C (n.782+3545A>C) c.*180A>C (n.*180A>C) c.*92A>C (n.*92A>C) c.54-946A>C c.956A>C (p.Glu319Ala) c.1040A>C (p.Glu347Ala) c.596A>C (p.Glu199Ala) | |
17 | g.7670636T= | CA2245942494 | TP53 | c.1073A= (p.Glu358=) c.677A= (p.Glu226=) c.794A= (p.Glu265=) c.1052A= (p.Glu351=) c.993+2899A= (n.993+2899A=) c.782+3545A= (n.782+3545A=) c.*180A= (n.*180A=) c.*92A= (n.*92A=) c.54-946A= c.956A= (p.Glu319=) c.1040A= (p.Glu347=) c.596A= (p.Glu199=) | |
17 | g.7670637C>A | CA397832009 | TP53 | c.1072G>T (p.Glu358Ter) c.676G>T (p.Glu226Ter) c.793G>T (p.Glu265Ter) c.1051G>T (p.Glu351Ter) c.993+2898G>T (n.993+2898G>T) c.782+3544G>T (n.782+3544G>T) c.*179G>T (n.*179G>T) c.*91G>T (n.*91G>T) c.54-947G>T c.955G>T (p.Glu319Ter) c.1039G>T (p.Glu347Ter) c.595G>T (p.Glu199Ter) | |
17 | g.7670637C= | CA2245942505 | TP53 | c.1072G= (p.Glu358=) c.676G= (p.Glu226=) c.793G= (p.Glu265=) c.1051G= (p.Glu351=) c.993+2898G= (n.993+2898G=) c.782+3544G= (n.782+3544G=) c.*179G= (n.*179G=) c.*91G= (n.*91G=) c.54-947G= c.955G= (p.Glu319=) c.1039G= (p.Glu347=) c.595G= (p.Glu199=) | |
17 | g.7670637C>G | CA397832022 | TP53 | c.1072G>C (p.Glu358Gln) c.676G>C (p.Glu226Gln) c.793G>C (p.Glu265Gln) c.1051G>C (p.Glu351Gln) c.993+2898G>C (n.993+2898G>C) c.782+3544G>C (n.782+3544G>C) c.*179G>C (n.*179G>C) c.*91G>C (n.*91G>C) c.54-947G>C c.955G>C (p.Glu319Gln) c.1039G>C (p.Glu347Gln) c.595G>C (p.Glu199Gln) | gnomAD v4 |
17 | g.7670637C>T | CA000027 | TP53 | c.1072G>A (p.Glu358Lys) c.676G>A (p.Glu226Lys) c.793G>A (p.Glu265Lys) c.1051G>A (p.Glu351Lys) c.993+2898G>A (n.993+2898G>A) c.782+3544G>A (n.782+3544G>A) c.*179G>A (n.*179G>A) c.*91G>A (n.*91G>A) c.54-947G>A c.955G>A (p.Glu319Lys) c.1039G>A (p.Glu347Lys) c.595G>A (p.Glu199Lys) | ClinVar dbSNP COSMIC |
17 | g.7670638dup | CA2840326738 | TP53 | c.1072dup (p.Glu358GlyfsTer24) c.676dup (p.Glu226GlyfsTer24) c.793dup (p.Glu265GlyfsTer24) c.1051dup (p.Glu351GlyfsTer24) c.993+2898dup (n.993+2898dup) c.782+3544dup (n.782+3544dup) c.*179dup (n.*179dup) c.*91dup (n.*91dup) c.54-947dup c.955dup (p.Glu319GlyfsTer24) c.1039dup (p.Glu347GlyfsTer24) c.595dup (p.Glu199GlyfsTer24) c.955dup (p.Glu319GlyfsTer29) | |
17 | g.7670638C>A | CA397832036 | TP53 | c.1071G>T (p.Lys357Asn) c.675G>T (p.Lys225Asn) c.792G>T (p.Lys264Asn) c.1050G>T (p.Lys350Asn) c.993+2897G>T (n.993+2897G>T) c.782+3543G>T (n.782+3543G>T) c.*178G>T (n.*178G>T) c.*90G>T (n.*90G>T) c.54-948G>T c.954G>T (p.Lys318Asn) c.1038G>T (p.Lys346Asn) c.594G>T (p.Lys198Asn) | dbSNP |
17 | g.7670638C>G | CA397832042 | TP53 | c.1071G>C (p.Lys357Asn) c.675G>C (p.Lys225Asn) c.792G>C (p.Lys264Asn) c.1050G>C (p.Lys350Asn) c.993+2897G>C (n.993+2897G>C) c.782+3543G>C (n.782+3543G>C) c.*178G>C (n.*178G>C) c.*90G>C (n.*90G>C) c.54-948G>C c.954G>C (p.Lys318Asn) c.1038G>C (p.Lys346Asn) c.594G>C (p.Lys198Asn) | dbSNP |
17 | g.7670638C>T | CA497712514 | TP53 | c.1071G>A (p.Lys357=) c.675G>A (p.Lys225=) c.792G>A (p.Lys264=) c.1050G>A (p.Lys350=) c.993+2897G>A (n.993+2897G>A) c.782+3543G>A (n.782+3543G>A) c.*178G>A (n.*178G>A) c.*90G>A (n.*90G>A) c.54-948G>A c.954G>A (p.Lys318=) c.1038G>A (p.Lys346=) c.594G>A (p.Lys198=) | dbSNP gnomAD v4 |
17 | g.7670639T>A | CA397832057 | TP53 | c.1070A>T (p.Lys357Met) c.674A>T (p.Lys225Met) c.791A>T (p.Lys264Met) c.1049A>T (p.Lys350Met) c.993+2896A>T (n.993+2896A>T) c.782+3542A>T (n.782+3542A>T) c.*177A>T (n.*177A>T) c.*89A>T (n.*89A>T) c.54-949A>T c.953A>T (p.Lys318Met) c.1037A>T (p.Lys346Met) c.593A>T (p.Lys198Met) | dbSNP |
17 | g.7670639T>C | CA000797 | TP53 | c.1070A>G (p.Lys357Arg) c.674A>G (p.Lys225Arg) c.791A>G (p.Lys264Arg) c.1049A>G (p.Lys350Arg) c.993+2896A>G (n.993+2896A>G) c.782+3542A>G (n.782+3542A>G) c.*177A>G (n.*177A>G) c.*89A>G (n.*89A>G) c.54-949A>G c.953A>G (p.Lys318Arg) c.1037A>G (p.Lys346Arg) c.593A>G (p.Lys198Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7670639T>G | CA397832054 | TP53 | c.1070A>C (p.Lys357Thr) c.674A>C (p.Lys225Thr) c.791A>C (p.Lys264Thr) c.1049A>C (p.Lys350Thr) c.993+2896A>C (n.993+2896A>C) c.782+3542A>C (n.782+3542A>C) c.*177A>C (n.*177A>C) c.*89A>C (n.*89A>C) c.54-949A>C c.953A>C (p.Lys318Thr) c.1037A>C (p.Lys346Thr) c.593A>C (p.Lys198Thr) | ClinVar |
17 | g.7670639T= | CA2245942515 | TP53 | c.1070A= (p.Lys357=) c.674A= (p.Lys225=) c.791A= (p.Lys264=) c.1049A= (p.Lys350=) c.993+2896A= (n.993+2896A=) c.782+3542A= (n.782+3542A=) c.*177A= (n.*177A=) c.*89A= (n.*89A=) c.54-949A= c.953A= (p.Lys318=) c.1037A= (p.Lys346=) c.593A= (p.Lys198=) | |
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.7670640T>A | CA397832076 | TP53 | c.1069A>T (p.Lys357Ter) c.673A>T (p.Lys225Ter) c.790A>T (p.Lys264Ter) c.1048A>T (p.Lys350Ter) c.993+2895A>T (n.993+2895A>T) c.782+3541A>T (n.782+3541A>T) c.*176A>T (n.*176A>T) c.*88A>T (n.*88A>T) c.54-950A>T c.952A>T (p.Lys318Ter) c.1036A>T (p.Lys346Ter) c.592A>T (p.Lys198Ter) | |
17 | g.7670640T>C | CA397832082 | TP53 | c.1069A>G (p.Lys357Glu) c.673A>G (p.Lys225Glu) c.790A>G (p.Lys264Glu) c.1048A>G (p.Lys350Glu) c.993+2895A>G (n.993+2895A>G) c.782+3541A>G (n.782+3541A>G) c.*176A>G (n.*176A>G) c.*88A>G (n.*88A>G) c.54-950A>G c.952A>G (p.Lys318Glu) c.1036A>G (p.Lys346Glu) c.592A>G (p.Lys198Glu) | ClinVar dbSNP |
17 | g.7670640T>G | CA397832092 | TP53 | c.1069A>C (p.Lys357Gln) c.673A>C (p.Lys225Gln) c.790A>C (p.Lys264Gln) c.1048A>C (p.Lys350Gln) c.993+2895A>C (n.993+2895A>C) c.782+3541A>C (n.782+3541A>C) c.*176A>C (n.*176A>C) c.*88A>C (n.*88A>C) c.54-950A>C c.952A>C (p.Lys318Gln) c.1036A>C (p.Lys346Gln) c.592A>C (p.Lys198Gln) | |
17 | g.7670640T= | CA2245942520 | TP53 | c.1069A= (p.Lys357=) c.673A= (p.Lys225=) c.790A= (p.Lys264=) c.1048A= (p.Lys350=) c.993+2895A= (n.993+2895A=) c.782+3541A= (n.782+3541A=) c.*176A= (n.*176A=) c.*88A= (n.*88A=) c.54-950A= c.952A= (p.Lys318=) c.1036A= (p.Lys346=) c.592A= (p.Lys198=) | |
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.7670641C>A | CA497712519 | TP53 | c.1068G>T (p.Gly356=) c.672G>T (p.Gly224=) c.789G>T (p.Gly263=) c.1047G>T (p.Gly349=) c.993+2894G>T (n.993+2894G>T) c.782+3540G>T (n.782+3540G>T) c.*175G>T (n.*175G>T) c.*87G>T (n.*87G>T) c.54-951G>T c.951G>T (p.Gly317=) c.1035G>T (p.Gly345=) c.591G>T (p.Gly197=) | |
17 | g.7670641C>G | CA497712520 | TP53 | c.1068G>C (p.Gly356=) c.672G>C (p.Gly224=) c.789G>C (p.Gly263=) c.1047G>C (p.Gly349=) c.993+2894G>C (n.993+2894G>C) c.782+3540G>C (n.782+3540G>C) c.*175G>C (n.*175G>C) c.*87G>C (n.*87G>C) c.54-951G>C c.951G>C (p.Gly317=) c.1035G>C (p.Gly345=) c.591G>C (p.Gly197=) | ClinVar dbSNP |
17 | g.7670641C>T | CA497712522 | TP53 | c.1068G>A (p.Gly356=) c.672G>A (p.Gly224=) c.789G>A (p.Gly263=) c.1047G>A (p.Gly349=) c.993+2894G>A (n.993+2894G>A) c.782+3540G>A (n.782+3540G>A) c.*175G>A (n.*175G>A) c.*87G>A (n.*87G>A) c.54-951G>A c.951G>A (p.Gly317=) c.1035G>A (p.Gly345=) c.591G>A (p.Gly197=) | dbSNP |
17 | g.7670643del | CA497712523 | TP53 | c.1068del (p.Lys357ArgfsTer13) c.672del (p.Lys225ArgfsTer13) c.789del (p.Lys264ArgfsTer13) c.1047del (p.Lys350ArgfsTer13) c.993+2894del (n.993+2894del) c.782+3540del (n.782+3540del) c.*175del (n.*175del) c.*87del (n.*87del) c.54-951del c.951del (p.Lys318ArgfsTer13) c.1035del (p.Lys346ArgfsTer13) c.591del (p.Lys198ArgfsTer13) c.951del (p.Lys318ArgfsTer?) | COSMIC |
17 | g.7670642C>A | CA397832097 | TP53 | c.1067G>T (p.Gly356Val) c.671G>T (p.Gly224Val) c.788G>T (p.Gly263Val) c.1046G>T (p.Gly349Val) c.993+2893G>T (n.993+2893G>T) c.782+3539G>T (n.782+3539G>T) c.*174G>T (n.*174G>T) c.*86G>T (n.*86G>T) c.54-952G>T c.950G>T (p.Gly317Val) c.1034G>T (p.Gly345Val) c.590G>T (p.Gly197Val) | dbSNP |
17 | g.7670642C>G | CA397832116 | TP53 | c.1067G>C (p.Gly356Ala) c.671G>C (p.Gly224Ala) c.788G>C (p.Gly263Ala) c.1046G>C (p.Gly349Ala) c.993+2893G>C (n.993+2893G>C) c.782+3539G>C (n.782+3539G>C) c.*174G>C (n.*174G>C) c.*86G>C (n.*86G>C) c.54-952G>C c.950G>C (p.Gly317Ala) c.1034G>C (p.Gly345Ala) c.590G>C (p.Gly197Ala) | ClinVar |
17 | g.7670642C>T | CA397832120 | TP53 | c.1067G>A (p.Gly356Glu) c.671G>A (p.Gly224Glu) c.788G>A (p.Gly263Glu) c.1046G>A (p.Gly349Glu) c.993+2893G>A (n.993+2893G>A) c.782+3539G>A (n.782+3539G>A) c.*174G>A (n.*174G>A) c.*86G>A (n.*86G>A) c.54-952G>A c.950G>A (p.Gly317Glu) c.1034G>A (p.Gly345Glu) c.590G>A (p.Gly197Glu) | dbSNP gnomAD v4 |
17 | g.7670643C>A | CA397832130 | TP53 | c.1066G>T (p.Gly356Trp) c.670G>T (p.Gly224Trp) c.787G>T (p.Gly263Trp) c.1045G>T (p.Gly349Trp) c.993+2892G>T (n.993+2892G>T) c.782+3538G>T (n.782+3538G>T) c.*173G>T (n.*173G>T) c.*85G>T (n.*85G>T) c.54-953G>T c.949G>T (p.Gly317Trp) c.1033G>T (p.Gly345Trp) c.589G>T (p.Gly197Trp) | ClinVar COSMIC |
17 | g.7670643C= | CA2245942536 | TP53 | c.1066G= (p.Gly356=) c.670G= (p.Gly224=) c.787G= (p.Gly263=) c.1045G= (p.Gly349=) c.993+2892G= (n.993+2892G=) c.782+3538G= (n.782+3538G=) c.*173G= (n.*173G=) c.*85G= (n.*85G=) c.54-953G= c.949G= (p.Gly317=) c.1033G= (p.Gly345=) c.589G= (p.Gly197=) | |
17 | g.7670643C>G | CA000803 | TP53 | c.1066G>C (p.Gly356Arg) c.670G>C (p.Gly224Arg) c.787G>C (p.Gly263Arg) c.1045G>C (p.Gly349Arg) c.993+2892G>C (n.993+2892G>C) c.782+3538G>C (n.782+3538G>C) c.*173G>C (n.*173G>C) c.*85G>C (n.*85G>C) c.54-953G>C c.949G>C (p.Gly317Arg) c.1033G>C (p.Gly345Arg) c.589G>C (p.Gly197Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670643C>T | CA287485729 | TP53 | c.1066G>A (p.Gly356Arg) c.670G>A (p.Gly224Arg) c.787G>A (p.Gly263Arg) c.1045G>A (p.Gly349Arg) c.993+2892G>A (n.993+2892G>A) c.782+3538G>A (n.782+3538G>A) c.*173G>A (n.*173G>A) c.*85G>A (n.*85G>A) c.54-953G>A c.949G>A (p.Gly317Arg) c.1033G>A (p.Gly345Arg) c.589G>A (p.Gly197Arg) | ClinVar dbSNP |
17 | g.7670644A= | CA2245942548 | TP53 | c.1065T= (p.Ala355=) c.669T= (p.Ala223=) c.786T= (p.Ala262=) c.1044T= (p.Ala348=) c.993+2891T= (n.993+2891T=) c.782+3537T= (n.782+3537T=) c.*172T= (n.*172T=) c.*84T= (n.*84T=) c.54-954T= c.948T= (p.Ala316=) c.1032T= (p.Ala344=) c.588T= (p.Ala196=) | |
17 | g.7670644A>C | CA497712525 | TP53 | c.1065T>G (p.Ala355=) c.669T>G (p.Ala223=) c.786T>G (p.Ala262=) c.1044T>G (p.Ala348=) c.993+2891T>G (n.993+2891T>G) c.782+3537T>G (n.782+3537T>G) c.*172T>G (n.*172T>G) c.*84T>G (n.*84T>G) c.54-954T>G c.948T>G (p.Ala316=) c.1032T>G (p.Ala344=) c.588T>G (p.Ala196=) | |
17 | g.7670644A>G | CA16607842 | TP53 | c.1065T>C (p.Ala355=) c.669T>C (p.Ala223=) c.786T>C (p.Ala262=) c.1044T>C (p.Ala348=) c.993+2891T>C (n.993+2891T>C) c.782+3537T>C (n.782+3537T>C) c.*172T>C (n.*172T>C) c.*84T>C (n.*84T>C) c.54-954T>C c.948T>C (p.Ala316=) c.1032T>C (p.Ala344=) c.588T>C (p.Ala196=) | ClinVar dbSNP |
17 | g.7670644A>T | CA497712526 | TP53 | c.1065T>A (p.Ala355=) c.669T>A (p.Ala223=) c.786T>A (p.Ala262=) c.1044T>A (p.Ala348=) c.993+2891T>A (n.993+2891T>A) c.782+3537T>A (n.782+3537T>A) c.*172T>A (n.*172T>A) c.*84T>A (n.*84T>A) c.54-954T>A c.948T>A (p.Ala316=) c.1032T>A (p.Ala344=) c.588T>A (p.Ala196=) | dbSNP |
17 | g.7670645G>A | CA397832139 | TP53 | c.1064C>T (p.Ala355Val) c.668C>T (p.Ala223Val) c.785C>T (p.Ala262Val) c.1043C>T (p.Ala348Val) c.993+2890C>T (n.993+2890C>T) c.782+3536C>T (n.782+3536C>T) c.*171C>T (n.*171C>T) c.*83C>T (n.*83C>T) c.54-955C>T c.947C>T (p.Ala316Val) c.1031C>T (p.Ala344Val) c.587C>T (p.Ala196Val) | ClinVar dbSNP gnomAD v4 |
17 | g.7670645G>C | CA397832140 | TP53 | c.1064C>G (p.Ala355Gly) c.668C>G (p.Ala223Gly) c.785C>G (p.Ala262Gly) c.1043C>G (p.Ala348Gly) c.993+2890C>G (n.993+2890C>G) c.782+3536C>G (n.782+3536C>G) c.*171C>G (n.*171C>G) c.*83C>G (n.*83C>G) c.54-955C>G c.947C>G (p.Ala316Gly) c.1031C>G (p.Ala344Gly) c.587C>G (p.Ala196Gly) | ClinVar dbSNP |
17 | g.7670645G= | CA2245942564 | TP53 | c.1064C= (p.Ala355=) c.668C= (p.Ala223=) c.785C= (p.Ala262=) c.1043C= (p.Ala348=) c.993+2890C= (n.993+2890C=) c.782+3536C= (n.782+3536C=) c.*171C= (n.*171C=) c.*83C= (n.*83C=) c.54-955C= c.947C= (p.Ala316=) c.1031C= (p.Ala344=) c.587C= (p.Ala196=) | |
17 | g.7670645G>T | CA397832142 | TP53 | c.1064C>A (p.Ala355Asp) c.668C>A (p.Ala223Asp) c.785C>A (p.Ala262Asp) c.1043C>A (p.Ala348Asp) c.993+2890C>A (n.993+2890C>A) c.782+3536C>A (n.782+3536C>A) c.*171C>A (n.*171C>A) c.*83C>A (n.*83C>A) c.54-955C>A c.947C>A (p.Ala316Asp) c.1031C>A (p.Ala344Asp) c.587C>A (p.Ala196Asp) | ClinVar |
17 | g.7670645_7670666delinsTGC | CA2695200372 | TP53 | c.1043_1064delinsGCA (p.Leu348CysfsTer16) c.647_668delinsGCA (p.Leu216CysfsTer16) c.764_785delinsGCA (p.Leu255CysfsTer16) c.1022_1043delinsGCA (p.Leu341CysfsTer16) c.993+2869_993+2890delinsGCA (n.993+2869_993+2890delinsGCA) c.782+3515_782+3536delinsGCA (n.782+3515_782+3536delinsGCA) c.*150_*171delinsGCA (n.*150_*171delinsGCA) c.*62_*83delinsGCA (n.*62_*83delinsGCA) c.54-976_54-955delinsGCA c.926_947delinsGCA (p.Leu309CysfsTer16) c.1010_1031delinsGCA (p.Leu337CysfsTer16) c.566_587delinsGCA (p.Leu189CysfsTer16) c.926_947delinsGCA (p.Leu309CysfsTer?) | ClinVar |
17 | g.7670646C>A | CA397832149 | TP53 | c.1063G>T (p.Ala355Ser) c.667G>T (p.Ala223Ser) c.784G>T (p.Ala262Ser) c.1042G>T (p.Ala348Ser) c.993+2889G>T (n.993+2889G>T) c.782+3535G>T (n.782+3535G>T) c.*170G>T (n.*170G>T) c.*82G>T (n.*82G>T) c.54-956G>T c.946G>T (p.Ala316Ser) c.1030G>T (p.Ala344Ser) c.586G>T (p.Ala196Ser) | ClinVar dbSNP |
17 | g.7670646C= | CA2245942577 | TP53 | c.1063G= (p.Ala355=) c.667G= (p.Ala223=) c.784G= (p.Ala262=) c.1042G= (p.Ala348=) c.993+2889G= (n.993+2889G=) c.782+3535G= (n.782+3535G=) c.*170G= (n.*170G=) c.*82G= (n.*82G=) c.54-956G= c.946G= (p.Ala316=) c.1030G= (p.Ala344=) c.586G= (p.Ala196=) | |
17 | g.7670646C>G | CA397832147 | TP53 | c.1063G>C (p.Ala355Pro) c.667G>C (p.Ala223Pro) c.784G>C (p.Ala262Pro) c.1042G>C (p.Ala348Pro) c.993+2889G>C (n.993+2889G>C) c.782+3535G>C (n.782+3535G>C) c.*170G>C (n.*170G>C) c.*82G>C (n.*82G>C) c.54-956G>C c.946G>C (p.Ala316Pro) c.1030G>C (p.Ala344Pro) c.586G>C (p.Ala196Pro) | dbSNP |
17 | g.7670646C>T | CA397832145 | TP53 | c.1063G>A (p.Ala355Thr) c.667G>A (p.Ala223Thr) c.784G>A (p.Ala262Thr) c.1042G>A (p.Ala348Thr) c.993+2889G>A (n.993+2889G>A) c.782+3535G>A (n.782+3535G>A) c.*170G>A (n.*170G>A) c.*82G>A (n.*82G>A) c.54-956G>A c.946G>A (p.Ala316Thr) c.1030G>A (p.Ala344Thr) c.586G>A (p.Ala196Thr) | ClinVar dbSNP gnomAD v2 |
17 | g.7670647C>A | CA397832171 | TP53 | c.1062G>T (p.Gln354His) c.666G>T (p.Gln222His) c.783G>T (p.Gln261His) c.1041G>T (p.Gln347His) c.993+2888G>T (n.993+2888G>T) c.782+3534G>T (n.782+3534G>T) c.*169G>T (n.*169G>T) c.*81G>T (n.*81G>T) c.54-957G>T c.945G>T (p.Gln315His) c.1029G>T (p.Gln343His) c.585G>T (p.Gln195His) | dbSNP COSMIC |
17 | g.7670647C= | CA2245942581 | TP53 | c.1062G= (p.Gln354=) c.666G= (p.Gln222=) c.783G= (p.Gln261=) c.1041G= (p.Gln347=) c.993+2888G= (n.993+2888G=) c.782+3534G= (n.782+3534G=) c.*169G= (n.*169G=) c.*81G= (n.*81G=) c.54-957G= c.945G= (p.Gln315=) c.1029G= (p.Gln343=) c.585G= (p.Gln195=) | |
17 | g.7670647C>G | CA397832162 | TP53 | c.1062G>C (p.Gln354His) c.666G>C (p.Gln222His) c.783G>C (p.Gln261His) c.1041G>C (p.Gln347His) c.993+2888G>C (n.993+2888G>C) c.782+3534G>C (n.782+3534G>C) c.*169G>C (n.*169G>C) c.*81G>C (n.*81G>C) c.54-957G>C c.945G>C (p.Gln315His) c.1029G>C (p.Gln343His) c.585G>C (p.Gln195His) | dbSNP |
17 | g.7670647C>T | CA497712531 | TP53 | c.1062G>A (p.Gln354=) c.666G>A (p.Gln222=) c.783G>A (p.Gln261=) c.1041G>A (p.Gln347=) c.993+2888G>A (n.993+2888G>A) c.782+3534G>A (n.782+3534G>A) c.*169G>A (n.*169G>A) c.*81G>A (n.*81G>A) c.54-957G>A c.945G>A (p.Gln315=) c.1029G>A (p.Gln343=) c.585G>A (p.Gln195=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7670648T>A | CA397832176 | TP53 | c.1061A>T (p.Gln354Leu) c.665A>T (p.Gln222Leu) c.782A>T (p.Gln261Leu) c.1040A>T (p.Gln347Leu) c.993+2887A>T (n.993+2887A>T) c.782+3533A>T (n.782+3533A>T) c.*168A>T (n.*168A>T) c.*80A>T (n.*80A>T) c.54-958A>T c.944A>T (p.Gln315Leu) c.1028A>T (p.Gln343Leu) c.584A>T (p.Gln195Leu) | ClinVar |
17 | g.7670648T>C | CA000810 | TP53 | c.1061A>G (p.Gln354Arg) c.665A>G (p.Gln222Arg) c.782A>G (p.Gln261Arg) c.1040A>G (p.Gln347Arg) c.993+2887A>G (n.993+2887A>G) c.782+3533A>G (n.782+3533A>G) c.*168A>G (n.*168A>G) c.*80A>G (n.*80A>G) c.54-958A>G c.944A>G (p.Gln315Arg) c.1028A>G (p.Gln343Arg) c.584A>G (p.Gln195Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.7670648T>G | CA397832177 | TP53 | c.1061A>C (p.Gln354Pro) c.665A>C (p.Gln222Pro) c.782A>C (p.Gln261Pro) c.1040A>C (p.Gln347Pro) c.993+2887A>C (n.993+2887A>C) c.782+3533A>C (n.782+3533A>C) c.*168A>C (n.*168A>C) c.*80A>C (n.*80A>C) c.54-958A>C c.944A>C (p.Gln315Pro) c.1028A>C (p.Gln343Pro) c.584A>C (p.Gln195Pro) | gnomAD v4 |
17 | g.7670648T= | CA2245942587 | TP53 | c.1061A= (p.Gln354=) c.665A= (p.Gln222=) c.782A= (p.Gln261=) c.1040A= (p.Gln347=) c.993+2887A= (n.993+2887A=) c.782+3533A= (n.782+3533A=) c.*168A= (n.*168A=) c.*80A= (n.*80A=) c.54-958A= c.944A= (p.Gln315=) c.1028A= (p.Gln343=) c.584A= (p.Gln195=) | |
17 | g.7670648_7670666del | CA645587295 | TP53 | c.1043_1061del (p.Leu348TrpfsTer16) c.647_665del (p.Leu216TrpfsTer16) c.764_782del (p.Leu255TrpfsTer16) c.1022_1040del (p.Leu341TrpfsTer16) c.993+2869_993+2887del (n.993+2869_993+2887del) c.782+3515_782+3533del (n.782+3515_782+3533del) c.*150_*168del (n.*150_*168del) c.*62_*80del (n.*62_*80del) c.54-976_54-958del c.926_944del (p.Leu309TrpfsTer16) c.1010_1028del (p.Leu337TrpfsTer16) c.566_584del (p.Leu189TrpfsTer16) c.926_944del (p.Leu309TrpfsTer?) | COSMIC |
17 | g.7670649G>A | CA397832178 | TP53 | c.1060C>T (p.Gln354Ter) c.664C>T (p.Gln222Ter) c.781C>T (p.Gln261Ter) c.1039C>T (p.Gln347Ter) c.993+2886C>T (n.993+2886C>T) c.782+3532C>T (n.782+3532C>T) c.*167C>T (n.*167C>T) c.*79C>T (n.*79C>T) c.54-959C>T c.943C>T (p.Gln315Ter) c.1027C>T (p.Gln343Ter) c.583C>T (p.Gln195Ter) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670649G>C | CA397832179 | TP53 | c.1060C>G (p.Gln354Glu) c.664C>G (p.Gln222Glu) c.781C>G (p.Gln261Glu) c.1039C>G (p.Gln347Glu) c.993+2886C>G (n.993+2886C>G) c.782+3532C>G (n.782+3532C>G) c.*167C>G (n.*167C>G) c.*79C>G (n.*79C>G) c.54-959C>G c.943C>G (p.Gln315Glu) c.1027C>G (p.Gln343Glu) c.583C>G (p.Gln195Glu) | ClinVar dbSNP |
17 | g.7670649G= | CA2245942608 | TP53 | c.1060C= (p.Gln354=) c.664C= (p.Gln222=) c.781C= (p.Gln261=) c.1039C= (p.Gln347=) c.993+2886C= (n.993+2886C=) c.782+3532C= (n.782+3532C=) c.*167C= (n.*167C=) c.*79C= (n.*79C=) c.54-959C= c.943C= (p.Gln315=) c.1027C= (p.Gln343=) c.583C= (p.Gln195=) | |
17 | g.7670649G>T | CA000816 | TP53 | c.1060C>A (p.Gln354Lys) c.664C>A (p.Gln222Lys) c.781C>A (p.Gln261Lys) c.1039C>A (p.Gln347Lys) c.993+2886C>A (n.993+2886C>A) c.782+3532C>A (n.782+3532C>A) c.*167C>A (n.*167C>A) c.*79C>A (n.*79C>A) c.54-959C>A c.943C>A (p.Gln315Lys) c.1027C>A (p.Gln343Lys) c.583C>A (p.Gln195Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.7670650G>A | CA497712535 | TP53 | c.1059C>T (p.Ala353=) c.663C>T (p.Ala221=) c.780C>T (p.Ala260=) c.1038C>T (p.Ala346=) c.993+2885C>T (n.993+2885C>T) c.782+3531C>T (n.782+3531C>T) c.*166C>T (n.*166C>T) c.*78C>T (n.*78C>T) c.54-960C>T c.942C>T (p.Ala314=) c.1026C>T (p.Ala342=) c.582C>T (p.Ala194=) | |
17 | g.7670650G>C | CA497712536 | TP53 | c.1059C>G (p.Ala353=) c.663C>G (p.Ala221=) c.780C>G (p.Ala260=) c.1038C>G (p.Ala346=) c.993+2885C>G (n.993+2885C>G) c.782+3531C>G (n.782+3531C>G) c.*166C>G (n.*166C>G) c.*78C>G (n.*78C>G) c.54-960C>G c.942C>G (p.Ala314=) c.1026C>G (p.Ala342=) c.582C>G (p.Ala194=) | dbSNP |
17 | g.7670650G>T | CA497712538 | TP53 | c.1059C>A (p.Ala353=) c.663C>A (p.Ala221=) c.780C>A (p.Ala260=) c.1038C>A (p.Ala346=) c.993+2885C>A (n.993+2885C>A) c.782+3531C>A (n.782+3531C>A) c.*166C>A (n.*166C>A) c.*78C>A (n.*78C>A) c.54-960C>A c.942C>A (p.Ala314=) c.1026C>A (p.Ala342=) c.582C>A (p.Ala194=) | ClinVar dbSNP |
17 | g.7670651_7670661del | CA645587296 | TP53 | c.1049_1059del (p.Leu350ProfsTer28) c.653_663del (p.Leu218ProfsTer28) c.770_780del (p.Leu257ProfsTer28) c.1028_1038del (p.Leu343ProfsTer28) c.993+2875_993+2885del (n.993+2875_993+2885del) c.782+3521_782+3531del (n.782+3521_782+3531del) c.*156_*166del (n.*156_*166del) c.*68_*78del (n.*68_*78del) c.54-970_54-960del c.932_942del (p.Leu311ProfsTer28) c.1016_1026del (p.Leu339ProfsTer28) c.572_582del (p.Leu191ProfsTer28) c.932_942del (p.Leu311ProfsTer?) | COSMIC |
17 | g.7670651G>A | CA397832186 | TP53 | c.1058C>T (p.Ala353Val) c.662C>T (p.Ala221Val) c.779C>T (p.Ala260Val) c.1037C>T (p.Ala346Val) c.993+2884C>T (n.993+2884C>T) c.782+3530C>T (n.782+3530C>T) c.*165C>T (n.*165C>T) c.*77C>T (n.*77C>T) c.54-961C>T c.941C>T (p.Ala314Val) c.1025C>T (p.Ala342Val) c.581C>T (p.Ala194Val) | dbSNP COSMIC COSMIC |
17 | g.7670651G>C | CA397832205 | TP53 | c.1058C>G (p.Ala353Gly) c.662C>G (p.Ala221Gly) c.779C>G (p.Ala260Gly) c.1037C>G (p.Ala346Gly) c.993+2884C>G (n.993+2884C>G) c.782+3530C>G (n.782+3530C>G) c.*165C>G (n.*165C>G) c.*77C>G (n.*77C>G) c.54-961C>G c.941C>G (p.Ala314Gly) c.1025C>G (p.Ala342Gly) c.581C>G (p.Ala194Gly) | dbSNP |
17 | g.7670651G>T | CA397832209 | TP53 | c.1058C>A (p.Ala353Asp) c.662C>A (p.Ala221Asp) c.779C>A (p.Ala260Asp) c.1037C>A (p.Ala346Asp) c.993+2884C>A (n.993+2884C>A) c.782+3530C>A (n.782+3530C>A) c.*165C>A (n.*165C>A) c.*77C>A (n.*77C>A) c.54-961C>A c.941C>A (p.Ala314Asp) c.1025C>A (p.Ala342Asp) c.581C>A (p.Ala194Asp) | dbSNP |
17 | g.7670652C>A | CA397832219 | TP53 | c.1057G>T (p.Ala353Ser) c.661G>T (p.Ala221Ser) c.778G>T (p.Ala260Ser) c.1036G>T (p.Ala346Ser) c.993+2883G>T (n.993+2883G>T) c.782+3529G>T (n.782+3529G>T) c.*164G>T (n.*164G>T) c.*76G>T (n.*76G>T) c.54-962G>T c.940G>T (p.Ala314Ser) c.1024G>T (p.Ala342Ser) c.580G>T (p.Ala194Ser) | ClinVar dbSNP |
17 | g.7670652C>G | CA397832220 | TP53 | c.1057G>C (p.Ala353Pro) c.661G>C (p.Ala221Pro) c.778G>C (p.Ala260Pro) c.1036G>C (p.Ala346Pro) c.993+2883G>C (n.993+2883G>C) c.782+3529G>C (n.782+3529G>C) c.*164G>C (n.*164G>C) c.*76G>C (n.*76G>C) c.54-962G>C c.940G>C (p.Ala314Pro) c.1024G>C (p.Ala342Pro) c.580G>C (p.Ala194Pro) | dbSNP |
17 | g.7670652C>T | CA397832221 | TP53 | c.1057G>A (p.Ala353Thr) c.661G>A (p.Ala221Thr) c.778G>A (p.Ala260Thr) c.1036G>A (p.Ala346Thr) c.993+2883G>A (n.993+2883G>A) c.782+3529G>A (n.782+3529G>A) c.*164G>A (n.*164G>A) c.*76G>A (n.*76G>A) c.54-962G>A c.940G>A (p.Ala314Thr) c.1024G>A (p.Ala342Thr) c.580G>A (p.Ala194Thr) | dbSNP COSMIC |
17 | g.7670653_7670671del | CA645587297 | TP53 | c.1039_1057del (p.Ala347ProfsTer17) c.643_661del (p.Ala215ProfsTer17) c.760_778del (p.Ala254ProfsTer17) c.1018_1036del (p.Ala340ProfsTer17) c.993+2865_993+2883del (n.993+2865_993+2883del) c.782+3511_782+3529del (n.782+3511_782+3529del) c.*146_*164del (n.*146_*164del) c.*58_*76del (n.*58_*76del) c.54-980_54-962del c.922_940del (p.Ala308ProfsTer17) c.1006_1024del (p.Ala336ProfsTer17) c.562_580del (p.Ala188ProfsTer17) c.922_940del (p.Ala308ProfsTer?) | COSMIC |
17 | g.7670653A>C | CA397832227 | TP53 | c.1056T>G (p.Asp352Glu) c.660T>G (p.Asp220Glu) c.777T>G (p.Asp259Glu) c.1035T>G (p.Asp345Glu) c.993+2882T>G (n.993+2882T>G) c.782+3528T>G (n.782+3528T>G) c.*163T>G (n.*163T>G) c.*75T>G (n.*75T>G) c.54-963T>G c.939T>G (p.Asp313Glu) c.1023T>G (p.Asp341Glu) c.579T>G (p.Asp193Glu) | ClinVar |
17 | g.7670653A>G | CA497712540 | TP53 | c.1056T>C (p.Asp352=) c.660T>C (p.Asp220=) c.777T>C (p.Asp259=) c.1035T>C (p.Asp345=) c.993+2882T>C (n.993+2882T>C) c.782+3528T>C (n.782+3528T>C) c.*163T>C (n.*163T>C) c.*75T>C (n.*75T>C) c.54-963T>C c.939T>C (p.Asp313=) c.1023T>C (p.Asp341=) c.579T>C (p.Asp193=) | |
17 | g.7670653A>T | CA397832224 | TP53 | c.1056T>A (p.Asp352Glu) c.660T>A (p.Asp220Glu) c.777T>A (p.Asp259Glu) c.1035T>A (p.Asp345Glu) c.993+2882T>A (n.993+2882T>A) c.782+3528T>A (n.782+3528T>A) c.*163T>A (n.*163T>A) c.*75T>A (n.*75T>A) c.54-963T>A c.939T>A (p.Asp313Glu) c.1023T>A (p.Asp341Glu) c.579T>A (p.Asp193Glu) | dbSNP |
17 | g.7670653_7670654delinsTG | CA10575448 | TP53 | c.1055_1056delinsCA (p.Asp352Ala) c.659_660delinsCA (p.Asp220Ala) c.776_777delinsCA (p.Asp259Ala) c.1034_1035delinsCA (p.Asp345Ala) c.993+2881_993+2882delinsCA (n.993+2881_993+2882delinsCA) c.782+3527_782+3528delinsCA (n.782+3527_782+3528delinsCA) c.*162_*163delinsCA (n.*162_*163delinsCA) c.*74_*75delinsCA (n.*74_*75delinsCA) c.54-964_54-963delinsCA c.938_939delinsCA (p.Asp313Ala) c.1022_1023delinsCA (p.Asp341Ala) c.578_579delinsCA (p.Asp193Ala) | |
17 | g.7670654T>A | CA397832231 | TP53 | c.1055A>T (p.Asp352Val) c.659A>T (p.Asp220Val) c.776A>T (p.Asp259Val) c.1034A>T (p.Asp345Val) c.993+2881A>T (n.993+2881A>T) c.782+3527A>T (n.782+3527A>T) c.*162A>T (n.*162A>T) c.*74A>T (n.*74A>T) c.54-964A>T c.938A>T (p.Asp313Val) c.1022A>T (p.Asp341Val) c.578A>T (p.Asp193Val) | |
17 | g.7670654T>C | CA397832234 | TP53 | c.1055A>G (p.Asp352Gly) c.659A>G (p.Asp220Gly) c.776A>G (p.Asp259Gly) c.1034A>G (p.Asp345Gly) c.993+2881A>G (n.993+2881A>G) c.782+3527A>G (n.782+3527A>G) c.*162A>G (n.*162A>G) c.*74A>G (n.*74A>G) c.54-964A>G c.938A>G (p.Asp313Gly) c.1022A>G (p.Asp341Gly) c.578A>G (p.Asp193Gly) | |
17 | g.7670654T>G | CA397832238 | TP53 | c.1055A>C (p.Asp352Ala) c.659A>C (p.Asp220Ala) c.776A>C (p.Asp259Ala) c.1034A>C (p.Asp345Ala) c.993+2881A>C (n.993+2881A>C) c.782+3527A>C (n.782+3527A>C) c.*162A>C (n.*162A>C) c.*74A>C (n.*74A>C) c.54-964A>C c.938A>C (p.Asp313Ala) c.1022A>C (p.Asp341Ala) c.578A>C (p.Asp193Ala) | |
17 | g.7670654_7670663del | CA2573154613 | TP53 | c.1046_1055del (p.Glu349ValfsTer18) c.650_659del (p.Glu217ValfsTer18) c.767_776del (p.Glu256ValfsTer18) c.1025_1034del (p.Glu342ValfsTer18) c.993+2872_993+2881del (n.993+2872_993+2881del) c.782+3518_782+3527del (n.782+3518_782+3527del) c.*153_*162del (n.*153_*162del) c.*65_*74del (n.*65_*74del) c.54-973_54-964del c.929_938del (p.Glu310ValfsTer18) c.1013_1022del (p.Glu338ValfsTer18) c.569_578del (p.Glu190ValfsTer18) c.929_938del (p.Glu310ValfsTer?) | ClinVar dbSNP |
17 | g.7670655C>A | CA397832246 | TP53 | c.1054G>T (p.Asp352Tyr) c.658G>T (p.Asp220Tyr) c.775G>T (p.Asp259Tyr) c.1033G>T (p.Asp345Tyr) c.993+2880G>T (n.993+2880G>T) c.782+3526G>T (n.782+3526G>T) c.*161G>T (n.*161G>T) c.*73G>T (n.*73G>T) c.54-965G>T c.937G>T (p.Asp313Tyr) c.1021G>T (p.Asp341Tyr) c.577G>T (p.Asp193Tyr) | ClinVar dbSNP gnomAD v4 |
17 | g.7670655C= | CA2245942622 | TP53 | c.1054G= (p.Asp352=) c.658G= (p.Asp220=) c.775G= (p.Asp259=) c.1033G= (p.Asp345=) c.993+2880G= (n.993+2880G=) c.782+3526G= (n.782+3526G=) c.*161G= (n.*161G=) c.*73G= (n.*73G=) c.54-965G= c.937G= (p.Asp313=) c.1021G= (p.Asp341=) c.577G= (p.Asp193=) | |
17 | g.7670655C>G | CA397832249 | TP53 | c.1054G>C (p.Asp352His) c.658G>C (p.Asp220His) c.775G>C (p.Asp259His) c.1033G>C (p.Asp345His) c.993+2880G>C (n.993+2880G>C) c.782+3526G>C (n.782+3526G>C) c.*161G>C (n.*161G>C) c.*73G>C (n.*73G>C) c.54-965G>C c.937G>C (p.Asp313His) c.1021G>C (p.Asp341His) c.577G>C (p.Asp193His) | ClinVar dbSNP |
17 | g.7670655C>T | CA397832256 | TP53 | c.1054G>A (p.Asp352Asn) c.658G>A (p.Asp220Asn) c.775G>A (p.Asp259Asn) c.1033G>A (p.Asp345Asn) c.993+2880G>A (n.993+2880G>A) c.782+3526G>A (n.782+3526G>A) c.*161G>A (n.*161G>A) c.*73G>A (n.*73G>A) c.54-965G>A c.937G>A (p.Asp313Asn) c.1021G>A (p.Asp341Asn) c.577G>A (p.Asp193Asn) | dbSNP |
17 | g.7670656del | CA2573154614 | TP53 | c.1054del (p.Asp352MetfsTer18) c.658del (p.Asp220MetfsTer18) c.775del (p.Asp259MetfsTer18) c.1033del (p.Asp345MetfsTer18) c.993+2880del (n.993+2880del) c.782+3526del (n.782+3526del) c.*161del (n.*161del) c.*73del (n.*73del) c.54-965del c.937del (p.Asp313MetfsTer18) c.1021del (p.Asp341MetfsTer18) c.577del (p.Asp193MetfsTer18) c.937del (p.Asp313MetfsTer?) | ClinVar dbSNP |
17 | g.7670655_7670667del | CA2733133570 | TP53 | c.1042_1054del (p.Leu348MetfsTer18) c.646_658del (p.Leu216MetfsTer18) c.763_775del (p.Leu255MetfsTer18) c.1021_1033del (p.Leu341MetfsTer18) c.993+2868_993+2880del (n.993+2868_993+2880del) c.782+3514_782+3526del (n.782+3514_782+3526del) c.*149_*161del (n.*149_*161del) c.*61_*73del (n.*61_*73del) c.54-977_54-965del c.925_937del (p.Leu309MetfsTer18) c.1009_1021del (p.Leu337MetfsTer18) c.565_577del (p.Leu189MetfsTer18) c.925_937del (p.Leu309MetfsTer?) | dbSNP |
17 | g.7670658_7670672del | CA2733133408 | TP53 | c.1040_1054del (p.Ala347_Lys351del) c.644_658del (p.Ala215_Lys219del) c.761_775del (p.Ala254_Lys258del) c.1019_1033del (p.Ala340_Lys344del) c.993+2866_993+2880del (n.993+2866_993+2880del) c.782+3512_782+3526del (n.782+3512_782+3526del) c.*147_*161del (n.*147_*161del) c.*59_*73del (n.*59_*73del) c.54-979_54-965del c.923_937del (p.Ala308_Lys312del) c.1007_1021del (p.Ala336_Lys340del) c.563_577del (p.Ala188_Lys192del) | dbSNP |
17 | g.7670656C>A | CA397832268 | TP53 | c.1053G>T (p.Lys351Asn) c.657G>T (p.Lys219Asn) c.774G>T (p.Lys258Asn) c.1032G>T (p.Lys344Asn) c.993+2879G>T (n.993+2879G>T) c.782+3525G>T (n.782+3525G>T) c.*160G>T (n.*160G>T) c.*72G>T (n.*72G>T) c.54-966G>T c.936G>T (p.Lys312Asn) c.1020G>T (p.Lys340Asn) c.576G>T (p.Lys192Asn) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670656C= | CA2245942636 | TP53 | c.1053G= (p.Lys351=) c.657G= (p.Lys219=) c.774G= (p.Lys258=) c.1032G= (p.Lys344=) c.993+2879G= (n.993+2879G=) c.782+3525G= (n.782+3525G=) c.*160G= (n.*160G=) c.*72G= (n.*72G=) c.54-966G= c.936G= (p.Lys312=) c.1020G= (p.Lys340=) c.576G= (p.Lys192=) | |
17 | g.7670656C>G | CA397832273 | TP53 | c.1053G>C (p.Lys351Asn) c.657G>C (p.Lys219Asn) c.774G>C (p.Lys258Asn) c.1032G>C (p.Lys344Asn) c.993+2879G>C (n.993+2879G>C) c.782+3525G>C (n.782+3525G>C) c.*160G>C (n.*160G>C) c.*72G>C (n.*72G>C) c.54-966G>C c.936G>C (p.Lys312Asn) c.1020G>C (p.Lys340Asn) c.576G>C (p.Lys192Asn) | |
17 | g.7670656C>T | CA497712543 | TP53 | c.1053G>A (p.Lys351=) c.657G>A (p.Lys219=) c.774G>A (p.Lys258=) c.1032G>A (p.Lys344=) c.993+2879G>A (n.993+2879G>A) c.782+3525G>A (n.782+3525G>A) c.*160G>A (n.*160G>A) c.*72G>A (n.*72G>A) c.54-966G>A c.936G>A (p.Lys312=) c.1020G>A (p.Lys340=) c.576G>A (p.Lys192=) | dbSNP |
17 | g.7670657T>A | CA397832276 | TP53 | c.1052A>T (p.Lys351Met) c.656A>T (p.Lys219Met) c.773A>T (p.Lys258Met) c.1031A>T (p.Lys344Met) c.993+2878A>T (n.993+2878A>T) c.782+3524A>T (n.782+3524A>T) c.*159A>T (n.*159A>T) c.*71A>T (n.*71A>T) c.54-967A>T c.935A>T (p.Lys312Met) c.1019A>T (p.Lys340Met) c.575A>T (p.Lys192Met) | dbSNP |
17 | g.7670657T>C | CA397832291 | TP53 | c.1052A>G (p.Lys351Arg) c.656A>G (p.Lys219Arg) c.773A>G (p.Lys258Arg) c.1031A>G (p.Lys344Arg) c.993+2878A>G (n.993+2878A>G) c.782+3524A>G (n.782+3524A>G) c.*159A>G (n.*159A>G) c.*71A>G (n.*71A>G) c.54-967A>G c.935A>G (p.Lys312Arg) c.1019A>G (p.Lys340Arg) c.575A>G (p.Lys192Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.7670657T>G | CA397832305 | TP53 | c.1052A>C (p.Lys351Thr) c.656A>C (p.Lys219Thr) c.773A>C (p.Lys258Thr) c.1031A>C (p.Lys344Thr) c.993+2878A>C (n.993+2878A>C) c.782+3524A>C (n.782+3524A>C) c.*159A>C (n.*159A>C) c.*71A>C (n.*71A>C) c.54-967A>C c.935A>C (p.Lys312Thr) c.1019A>C (p.Lys340Thr) c.575A>C (p.Lys192Thr) | |
17 | g.7670657T= | CA2245942648 | TP53 | c.1052A= (p.Lys351=) c.656A= (p.Lys219=) c.773A= (p.Lys258=) c.1031A= (p.Lys344=) c.993+2878A= (n.993+2878A=) c.782+3524A= (n.782+3524A=) c.*159A= (n.*159A=) c.*71A= (n.*71A=) c.54-967A= c.935A= (p.Lys312=) c.1019A= (p.Lys340=) c.575A= (p.Lys192=) | |
17 | g.7670658del | CA2499224950 | TP53 | c.1052del (p.Lys351ArgfsTer19) c.656del (p.Lys219ArgfsTer19) c.773del (p.Lys258ArgfsTer19) c.1031del (p.Lys344ArgfsTer19) c.993+2878del (n.993+2878del) c.782+3524del (n.782+3524del) c.*159del (n.*159del) c.*71del (n.*71del) c.54-967del c.935del (p.Lys312ArgfsTer19) c.1019del (p.Lys340ArgfsTer19) c.575del (p.Lys192ArgfsTer19) c.935del (p.Lys312ArgfsTer?) | ClinVar dbSNP |
17 | g.7670657_7670665delinsTTGAGTTCC | CA2245942644 | TP53 | c.1044_1052delinsGGAACTCAA (p.Leu348=) c.648_656delinsGGAACTCAA (p.Leu216=) c.765_773delinsGGAACTCAA (p.Leu255=) c.1023_1031delinsGGAACTCAA (p.Leu341=) c.993+2870_993+2878delinsGGAACTCAA (n.993+2870_993+2878delinsGGAACTCAA) c.782+3516_782+3524delinsGGAACTCAA (n.782+3516_782+3524delinsGGAACTCAA) c.*151_*159delinsGGAACTCAA (n.*151_*159delinsGGAACTCAA) c.*63_*71delinsGGAACTCAA (n.*63_*71delinsGGAACTCAA) c.54-975_54-967delinsGGAACTCAA c.927_935delinsGGAACTCAA (p.Leu309=) c.1011_1019delinsGGAACTCAA (p.Leu337=) c.567_575delinsGGAACTCAA (p.Leu189=) | |
17 | g.7670657_7670666delinsTTGAGTTCCA | CA2245942655 | TP53 | c.1043_1052delinsTGGAACTCAA (p.Leu348=) c.647_656delinsTGGAACTCAA (p.Leu216=) c.764_773delinsTGGAACTCAA (p.Leu255=) c.1022_1031delinsTGGAACTCAA (p.Leu341=) c.993+2869_993+2878delinsTGGAACTCAA (n.993+2869_993+2878delinsTGGAACTCAA) c.782+3515_782+3524delinsTGGAACTCAA (n.782+3515_782+3524delinsTGGAACTCAA) c.*150_*159delinsTGGAACTCAA (n.*150_*159delinsTGGAACTCAA) c.*62_*71delinsTGGAACTCAA (n.*62_*71delinsTGGAACTCAA) c.54-976_54-967delinsTGGAACTCAA c.926_935delinsTGGAACTCAA (p.Leu309=) c.1010_1019delinsTGGAACTCAA (p.Leu337=) c.566_575delinsTGGAACTCAA (p.Leu189=) | |
17 | g.7670658T>A | CA397832311 | TP53 | c.1051A>T (p.Lys351Ter) c.655A>T (p.Lys219Ter) c.772A>T (p.Lys258Ter) c.1030A>T (p.Lys344Ter) c.993+2877A>T (n.993+2877A>T) c.782+3523A>T (n.782+3523A>T) c.*158A>T (n.*158A>T) c.*70A>T (n.*70A>T) c.54-968A>T c.934A>T (p.Lys312Ter) c.1018A>T (p.Lys340Ter) c.574A>T (p.Lys192Ter) | ClinVar dbSNP COSMIC COSMIC |
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=) | ClinVar 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 |
17 | g.7670666A>G | CA397832401 | TP53 | c.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 |
17 | g.7670666A>T | CA397832404 | TP53 | c.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 |
17 | g.7670667del | CA2499224951 | TP53 | c.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 |
17 | g.7670667A= | CA2245942743 | TP53 | c.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=) | |
17 | g.7670667A>C | CA16615934 | TP53 | c.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 |
17 | g.7670667A>G | CA497712561 | TP53 | c.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=) | |
17 | g.7670667A>T | CA397832417 | TP53 | c.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 |
17 | g.7670672_7670673insTAGGCCT | CA645587299 | TP53 | c.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 |
17 | g.7670667_7670679del | CA645587298 | TP53 | c.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 |
17 | g.7670668G>A | CA497712567 | TP53 | c.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 |
17 | g.7670668G>C | CA497712566 | TP53 | c.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 |
17 | g.7670668G= | CA2245942752 | TP53 | c.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=) | |
17 | g.7670668G>T | CA497712568 | TP53 | c.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 |
17 | g.7670669del | CA497712564 | TP53 | c.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 |
17 | g.7670669G>A | CA16620609 | TP53 | c.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 |
17 | g.7670669G>C | CA397832423 | TP53 | c.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 |
17 | g.7670669G= | CA2245942767 | TP53 | c.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=) | |
17 | g.7670669G>T | CA000022 | TP53 | c.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 |
17 | g.7670669_7670670delinsAA | CA2580094845 | TP53 | c.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 |
17 | g.7670669_7670671del | CA2695224215 | TP53 | c.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) | |
17 | g.7670671_7670680del | CA645587300 | TP53 | c.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 |
17 | g.7670670C>A | CA397832426 | TP53 | c.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 |
17 | g.7670670C= | CA2245942772 | TP53 | c.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=) | |
17 | g.7670670C>G | CA397832440 | TP53 | c.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 |
17 | g.7670670C>T | CA397832443 | TP53 | c.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 |
17 | g.7670671del | CA1139768343 | TP53 | c.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 |
17 | g.7670671C>A | CA397832446 | TP53 | c.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 |
17 | g.7670671C= | CA2245942783 | TP53 | c.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=) | |
17 | g.7670671C>G | CA397832451 | TP53 | c.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 |
17 | g.7670671C>T | CA497712572 | TP53 | c.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 |
17 | g.7670672T>A | CA397832452 | TP53 | c.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 |
17 | g.7670672T>C | CA397832453 | TP53 | c.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 |
17 | g.7670672T>G | CA397832454 | TP53 | c.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 |
17 | g.7670672_7670673delinsTC | CA2245942796 | TP53 | c.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=) | |
17 | g.7670673del | CA913190570 | TP53 | c.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 |
17 | g.7670673C>A | CA397832461 | TP53 | c.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 |
17 | g.7670673C= | CA2245942812 | TP53 | c.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=) | |
17 | g.7670673C>G | CA397832457 | TP53 | c.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 |
17 | g.7670673C>T | CA397832455 | TP53 | c.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 |
17 | g.7670674A>C | CA397832471 | TP53 | c.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) | |
17 | g.7670674A>G | CA497712579 | TP53 | c.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 |
17 | g.7670674A>T | CA397832473 | TP53 | c.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 |
17 | g.7670674_7670682delinsATTCAGCTC | CA2245942816 | TP53 | c.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=) | |
17 | g.7670674_7670685del | CA645587301 | TP53 | c.1024_1035del (p.Arg342_Asn345del) c.628_639del (p.Arg210_Asn213del) c.745_756del (p.Arg249_Asn252del) c.1003_1014del (p.Arg335_Asn338del) c.993+2850_993+2861del (n.993+2850_993+2861del) c.782+3496_782+3507del (n.782+3496_782+3507del) c.*131_*142del (n.*131_*142del) c.*43_*54del (n.*43_*54del) c.54-995_54-984del c.907_918del (p.Arg303_Asn306del) c.991_1002del (p.Arg331_Asn334del) c.547_558del (p.Arg183_Asn186del) | COSMIC |
17 | g.7670675T>A | CA397832480 | TP53 | c.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 |
17 | g.7670675T>C | CA397832487 | TP53 | c.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) | |
17 | g.7670675T>G | CA397832489 | TP53 | c.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) | |
17 | g.7670676del | CA497712584 | TP53 | c.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 |
17 | g.7670676_7670683del | CA913190571 | TP53 | c.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 |
17 | g.7670675_7670684dup | CA645587302 | TP53 | c.1025_1034dup (p.Asn345LysfsTer5) c.629_638dup (p.Asn213LysfsTer5) c.746_755dup (p.Asn252LysfsTer5) c.1004_1013dup (p.Asn338LysfsTer5) c.993+2851_993+2860dup (n.993+2851_993+2860dup) c.782+3497_782+3506dup (n.782+3497_782+3506dup) c.*132_*141dup (n.*132_*141dup) c.*44_*53dup (n.*44_*53dup) c.54-994_54-985dup c.908_917dup (p.Asn306LysfsTer5) c.992_1001dup (p.Asn334LysfsTer5) c.548_557dup (p.Asn186LysfsTer5) | COSMIC COSMIC |
17 | g.7670676T>A | CA397832491 | TP53 | c.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 |
17 | g.7670676T>C | CA397832493 | TP53 | c.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 |
17 | g.7670676T>G | CA397832498 | TP53 | c.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) | |
17 | g.7670676_7670677del | CA645587303 | TP53 | c.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 |
17 | g.7670677del | CA497712589 | TP53 | c.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 |
17 | g.7670677C>A | CA497712588 | TP53 | c.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=) | |
17 | g.7670677C= | CA2245942835 | TP53 | c.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=) | |
17 | g.7670677C>G | CA000829 | TP53 | c.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 |
17 | g.7670677C>T | CA350737 | TP53 | c.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 |
17 | g.7670678A= | CA2245942844 | TP53 | c.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=) | |
17 | g.7670678A>C | CA397832502 | TP53 | c.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 |
17 | g.7670678A>G | CA000021 | TP53 | c.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 |
17 | g.7670678A>T | CA397832505 | TP53 | c.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 |
17 | g.7670678_7670679insCT | CA645587304 | TP53 | c.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 |
17 | g.7670679G>A | CA497712593 | TP53 | c.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 |
17 | g.7670679G>C | CA397832512 | TP53 | c.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 |
17 | g.7670679G= | CA2245942854 | TP53 | c.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=) | |
17 | g.7670679G>T | CA397832507 | TP53 | c.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 |
17 | g.7670680C>A | CA397832518 | TP53 | c.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) | |
17 | g.7670680C>G | CA397832519 | TP53 | c.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 |
17 | g.7670680C>T | CA497712597 | TP53 | c.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=) | |
17 | g.7670683_7670684del | CA645587305 | TP53 | c.1028_1029del (p.Glu343AlafsTer3) c.632_633del (p.Glu211AlafsTer3) c.749_750del (p.Glu250AlafsTer3) c.1007_1008del (p.Glu336AlafsTer3) c.993+2854_993+2855del (n.993+2854_993+2855del) c.782+3500_782+3501del (n.782+3500_782+3501del) c.*135_*136del (n.*135_*136del) c.*47_*48del (n.*47_*48del) c.54-991_54-990del c.911_912del (p.Glu304AlafsTer3) c.995_996del (p.Glu332AlafsTer3) c.551_552del (p.Glu184AlafsTer3) | COSMIC COSMIC COSMIC |
17 | g.7670680_7670690delinsCTCTCGGAACA | CA2245942865 | TP53 | c.1019_1029delinsTGTTCCGAGAG (p.Met340=) c.623_633delinsTGTTCCGAGAG (p.Met208=) c.740_750delinsTGTTCCGAGAG (p.Met247=) c.998_1008delinsTGTTCCGAGAG (p.Met333=) c.993+2845_993+2855delinsTGTTCCGAGAG (n.993+2845_993+2855delinsTGTTCCGAGAG) c.782+3491_782+3501delinsTGTTCCGAGAG (n.782+3491_782+3501delinsTGTTCCGAGAG) c.*126_*136delinsTGTTCCGAGAG (n.*126_*136delinsTGTTCCGAGAG) c.*38_*48delinsTGTTCCGAGAG (n.*38_*48delinsTGTTCCGAGAG) c.54-1000_54-990delinsTGTTCCGAGAG c.902_912delinsTGTTCCGAGAG (p.Met301=) c.986_996delinsTGTTCCGAGAG (p.Met329=) c.542_552delinsTGTTCCGAGAG (p.Met181=) | |
17 | g.7670681del | CA2580094851 | TP53 | c.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 |
17 | g.7670681T>A | CA397832521 | TP53 | c.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 |
17 | g.7670681T>C | CA397832522 | TP53 | c.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 |
17 | g.7670681T>G | CA397832528 | TP53 | c.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) | |
17 | g.7670686_7670695del | CA913188761 | TP53 | c.1019_1028del (p.Met340SerfsTer2) c.623_632del (p.Met208SerfsTer2) c.740_749del (p.Met247SerfsTer2) c.998_1007del (p.Met333SerfsTer2) c.993+2845_993+2854del (n.993+2845_993+2854del) c.782+3491_782+3500del (n.782+3491_782+3500del) c.*126_*135del (n.*126_*135del) c.*38_*47del (n.*38_*47del) c.54-1000_54-991del c.902_911del (p.Met301SerfsTer2) c.986_995del (p.Met329SerfsTer2) c.542_551del (p.Met181SerfsTer2) | ClinVar dbSNP |
17 | g.7670682C>A | CA397832533 | TP53 | c.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 |
17 | g.7670682C= | CA2245942873 | TP53 | c.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=) | |
17 | g.7670682C>G | CA287485739 | TP53 | c.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 |
17 | g.7670682C>T | CA397832559 | TP53 | c.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 |
17 | g.7670683T>A | CA497712601 | TP53 | c.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 |
17 | g.7670683T>C | CA497712600 | TP53 | c.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 |
17 | g.7670683T>G | CA497712599 | TP53 | c.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=) | |
17 | g.7670683_7670687del | CA2838032357 | TP53 | c.1022_1026del (p.Phe341Ter) c.626_630del (p.Phe209Ter) c.743_747del (p.Phe248Ter) c.1001_1005del (p.Phe334Ter) c.993+2848_993+2852del (n.993+2848_993+2852del) c.782+3494_782+3498del (n.782+3494_782+3498del) c.*129_*133del (n.*129_*133del) c.*41_*45del (n.*41_*45del) c.54-997_54-993del c.905_909del (p.Phe302Ter) c.989_993del (p.Phe330Ter) c.545_549del (p.Phe182Ter) | |
17 | g.7670684del | CA497712603 | TP53 | c.1025del (p.Arg342GlnfsTer3) c.629del (p.Arg210GlnfsTer3) c.746del (p.Arg249GlnfsTer3) c.1004del (p.Arg335GlnfsTer3) c.993+2851del (n.993+2851del) c.782+3497del (n.782+3497del) c.*132del (n.*132del) c.*44del (n.*44del) c.54-994del c.908del (p.Arg303GlnfsTer3) c.992del (p.Arg331GlnfsTer3) c.548del (p.Arg183GlnfsTer3) | COSMIC |
17 | g.7670684C>A | CA397832566 | TP53 | c.1025G>T (p.Arg342Leu) c.629G>T (p.Arg210Leu) c.746G>T (p.Arg249Leu) c.1004G>T (p.Arg335Leu) c.993+2851G>T (n.993+2851G>T) c.782+3497G>T (n.782+3497G>T) c.*132G>T (n.*132G>T) c.*44G>T (n.*44G>T) c.54-994G>T c.908G>T (p.Arg303Leu) c.992G>T (p.Arg331Leu) c.548G>T (p.Arg183Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.7670684C= | CA2245942882 | TP53 | c.1025G= (p.Arg342=) c.629G= (p.Arg210=) c.746G= (p.Arg249=) c.1004G= (p.Arg335=) c.993+2851G= (n.993+2851G=) c.782+3497G= (n.782+3497G=) c.*132G= (n.*132G=) c.*44G= (n.*44G=) c.54-994G= c.908G= (p.Arg303=) c.992G= (p.Arg331=) c.548G= (p.Arg183=) | |
17 | g.7670684C>G | CA337802 | TP53 | c.1025G>C (p.Arg342Pro) c.629G>C (p.Arg210Pro) c.746G>C (p.Arg249Pro) c.1004G>C (p.Arg335Pro) c.993+2851G>C (n.993+2851G>C) c.782+3497G>C (n.782+3497G>C) c.*132G>C (n.*132G>C) c.*44G>C (n.*44G>C) c.54-994G>C c.908G>C (p.Arg303Pro) c.992G>C (p.Arg331Pro) c.548G>C (p.Arg183Pro) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670684C>T | CA000835 | TP53 | c.1025G>A (p.Arg342Gln) c.629G>A (p.Arg210Gln) c.746G>A (p.Arg249Gln) c.1004G>A (p.Arg335Gln) c.993+2851G>A (n.993+2851G>A) c.782+3497G>A (n.782+3497G>A) c.*132G>A (n.*132G>A) c.*44G>A (n.*44G>A) c.54-994G>A c.908G>A (p.Arg303Gln) c.992G>A (p.Arg331Gln) c.548G>A (p.Arg183Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.7670684_7670685del | CA2697559388 | TP53 | c.1024_1025del (p.Glu343AlafsTer3) c.628_629del (p.Glu211AlafsTer3) c.745_746del (p.Glu250AlafsTer3) c.1003_1004del (p.Glu336AlafsTer3) c.993+2850_993+2851del (n.993+2850_993+2851del) c.782+3496_782+3497del (n.782+3496_782+3497del) c.*131_*132del (n.*131_*132del) c.*43_*44del (n.*43_*44del) c.54-995_54-994del c.907_908del (p.Glu304AlafsTer3) c.991_992del (p.Glu332AlafsTer3) c.547_548del (p.Glu184AlafsTer3) | ClinVar |
17 | g.7670684_7670685delinsAA | CA915949512 | TP53 | c.1024_1025delinsTT (p.Arg342Leu) c.628_629delinsTT (p.Arg210Leu) c.745_746delinsTT (p.Arg249Leu) c.1003_1004delinsTT (p.Arg335Leu) c.993+2850_993+2851delinsTT (n.993+2850_993+2851delinsTT) c.782+3496_782+3497delinsTT (n.782+3496_782+3497delinsTT) c.*131_*132delinsTT (n.*131_*132delinsTT) c.*43_*44delinsTT (n.*43_*44delinsTT) c.54-995_54-994delinsTT c.907_908delinsTT (p.Arg303Leu) c.991_992delinsTT (p.Arg331Leu) c.547_548delinsTT (p.Arg183Leu) | ClinVar dbSNP |
17 | g.7670684_7670685delinsCG | CA2245942885 | TP53 | c.1024_1025delinsCG (p.Arg342=) c.628_629delinsCG (p.Arg210=) c.745_746delinsCG (p.Arg249=) c.1003_1004delinsCG (p.Arg335=) c.993+2850_993+2851delinsCG (n.993+2850_993+2851delinsCG) c.782+3496_782+3497delinsCG (n.782+3496_782+3497delinsCG) c.*131_*132delinsCG (n.*131_*132delinsCG) c.*43_*44delinsCG (n.*43_*44delinsCG) c.54-995_54-994delinsCG c.907_908delinsCG (p.Arg303=) c.991_992delinsCG (p.Arg331=) c.547_548delinsCG (p.Arg183=) | |
17 | g.7670684_7670686delinsCGG | CA2245942886 | TP53 | c.1023_1025delinsCCG (p.Phe341=) c.627_629delinsCCG (p.Phe209=) c.744_746delinsCCG (p.Phe248=) c.1002_1004delinsCCG (p.Phe334=) c.993+2849_993+2851delinsCCG (n.993+2849_993+2851delinsCCG) c.782+3495_782+3497delinsCCG (n.782+3495_782+3497delinsCCG) c.*130_*132delinsCCG (n.*130_*132delinsCCG) c.*42_*44delinsCCG (n.*42_*44delinsCCG) c.54-996_54-994delinsCCG c.906_908delinsCCG (p.Phe302=) c.990_992delinsCCG (p.Phe330=) c.546_548delinsCCG (p.Phe182=) | |
17 | g.7670685G>A | CA000019 | TP53 | c.1024C>T (p.Arg342Ter) c.628C>T (p.Arg210Ter) c.745C>T (p.Arg249Ter) c.1003C>T (p.Arg335Ter) c.993+2850C>T (n.993+2850C>T) c.782+3496C>T (n.782+3496C>T) c.*131C>T (n.*131C>T) c.*43C>T (n.*43C>T) c.54-995C>T c.907C>T (p.Arg303Ter) c.991C>T (p.Arg331Ter) c.547C>T (p.Arg183Ter) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670685G>C | CA397832599 | TP53 | c.1024C>G (p.Arg342Gly) c.628C>G (p.Arg210Gly) c.745C>G (p.Arg249Gly) c.1003C>G (p.Arg335Gly) c.993+2850C>G (n.993+2850C>G) c.782+3496C>G (n.782+3496C>G) c.*131C>G (n.*131C>G) c.*43C>G (n.*43C>G) c.54-995C>G c.907C>G (p.Arg303Gly) c.991C>G (p.Arg331Gly) c.547C>G (p.Arg183Gly) | ClinVar dbSNP |
17 | g.7670685G= | CA2245942905 | TP53 | c.1024C= (p.Arg342=) c.628C= (p.Arg210=) c.745C= (p.Arg249=) c.1003C= (p.Arg335=) c.993+2850C= (n.993+2850C=) c.782+3496C= (n.782+3496C=) c.*131C= (n.*131C=) c.*43C= (n.*43C=) c.54-995C= c.907C= (p.Arg303=) c.991C= (p.Arg331=) c.547C= (p.Arg183=) | |
17 | g.7670685G>T | CA497712604 | TP53 | c.1024C>A (p.Arg342=) c.628C>A (p.Arg210=) c.745C>A (p.Arg249=) c.1003C>A (p.Arg335=) c.993+2850C>A (n.993+2850C>A) c.782+3496C>A (n.782+3496C>A) c.*131C>A (n.*131C>A) c.*43C>A (n.*43C>A) c.54-995C>A c.907C>A (p.Arg303=) c.991C>A (p.Arg331=) c.547C>A (p.Arg183=) | dbSNP |
17 | g.7670685_7670686delinsA | CA919785603 | TP53 | c.1023_1024delinsT (p.Arg342GlufsTer3) c.627_628delinsT (p.Arg210GlufsTer3) c.744_745delinsT (p.Arg249GlufsTer3) c.1002_1003delinsT (p.Arg335GlufsTer3) c.993+2849_993+2850delinsT (n.993+2849_993+2850delinsT) c.782+3495_782+3496delinsT (n.782+3495_782+3496delinsT) c.*130_*131delinsT (n.*130_*131delinsT) c.*42_*43delinsT (n.*42_*43delinsT) c.54-996_54-995delinsT c.906_907delinsT (p.Arg303GlufsTer3) c.990_991delinsT (p.Arg331GlufsTer3) c.546_547delinsT (p.Arg183GlufsTer3) | dbSNP |
17 | g.7670685_7670686delinsAA | CA645587307 | TP53 | c.1023_1024delinsTT (p.Phe342Ter) c.627_628delinsTT (p.Phe210Ter) c.744_745delinsTT (p.Phe249Ter) c.1002_1003delinsTT (p.Phe335Ter) c.993+2849_993+2850delinsTT (n.993+2849_993+2850delinsTT) c.782+3495_782+3496delinsTT (n.782+3495_782+3496delinsTT) c.*130_*131delinsTT (n.*130_*131delinsTT) c.*42_*43delinsTT (n.*42_*43delinsTT) c.54-996_54-995delinsTT c.906_907delinsTT (p.Phe303Ter) c.990_991delinsTT (p.Phe331Ter) c.546_547delinsTT (p.Phe183Ter) | COSMIC COSMIC |
17 | g.7670686del | CA497712605 | TP53 | c.1024del (p.Arg342GlufsTer3) c.628del (p.Arg210GlufsTer3) c.745del (p.Arg249GlufsTer3) c.1003del (p.Arg335GlufsTer3) c.993+2850del (n.993+2850del) c.782+3496del (n.782+3496del) c.*131del (n.*131del) c.*43del (n.*43del) c.54-995del c.907del (p.Arg303GlufsTer3) c.991del (p.Arg331GlufsTer3) c.547del (p.Arg183GlufsTer3) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
17 | g.7670685_7670686insA | CA645587309 | TP53 | c.1023_1024insT (p.Arg342SerfsTer5) c.627_628insT (p.Arg210SerfsTer5) c.744_745insT (p.Arg249SerfsTer5) c.1002_1003insT (p.Arg335SerfsTer5) c.993+2849_993+2850insT (n.993+2849_993+2850insT) c.782+3495_782+3496insT (n.782+3495_782+3496insT) c.*130_*131insT (n.*130_*131insT) c.*42_*43insT (n.*42_*43insT) c.54-996_54-995insT c.906_907insT (p.Arg303SerfsTer5) c.990_991insT (p.Arg331SerfsTer5) c.546_547insT (p.Arg183SerfsTer5) | COSMIC |
17 | g.7670685_7670686insTTCAGCTCTC | CA645587310 | TP53 | c.1023_1024insGAGAGCTGAA (p.Arg342GlufsTer3) c.627_628insGAGAGCTGAA (p.Arg210GlufsTer3) c.744_745insGAGAGCTGAA (p.Arg249GlufsTer3) c.1002_1003insGAGAGCTGAA (p.Arg335GlufsTer3) c.993+2849_993+2850insGAGAGCTGAA (n.993+2849_993+2850insGAGAGCTGAA) c.782+3495_782+3496insGAGAGCTGAA (n.782+3495_782+3496insGAGAGCTGAA) c.*130_*131insGAGAGCTGAA (n.*130_*131insGAGAGCTGAA) c.*42_*43insGAGAGCTGAA (n.*42_*43insGAGAGCTGAA) c.54-996_54-995insGAGAGCTGAA c.906_907insGAGAGCTGAA (p.Arg303GlufsTer3) c.990_991insGAGAGCTGAA (p.Arg331GlufsTer3) c.546_547insGAGAGCTGAA (p.Arg183GlufsTer3) | COSMIC COSMIC |
17 | g.7670686G>A | CA349981 | TP53 | c.1023C>T (p.Phe341=) c.627C>T (p.Phe209=) c.744C>T (p.Phe248=) c.1002C>T (p.Phe334=) c.993+2849C>T (n.993+2849C>T) c.782+3495C>T (n.782+3495C>T) c.*130C>T (n.*130C>T) c.*42C>T (n.*42C>T) c.54-996C>T c.906C>T (p.Phe302=) c.990C>T (p.Phe330=) c.546C>T (p.Phe182=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7670686G>C | CA397832612 | TP53 | c.1023C>G (p.Phe341Leu) c.627C>G (p.Phe209Leu) c.744C>G (p.Phe248Leu) c.1002C>G (p.Phe334Leu) c.993+2849C>G (n.993+2849C>G) c.782+3495C>G (n.782+3495C>G) c.*130C>G (n.*130C>G) c.*42C>G (n.*42C>G) c.54-996C>G c.906C>G (p.Phe302Leu) c.990C>G (p.Phe330Leu) c.546C>G (p.Phe182Leu) | ClinVar dbSNP |
17 | g.7670686G= | CA2245942920 | TP53 | c.1023C= (p.Phe341=) c.627C= (p.Phe209=) c.744C= (p.Phe248=) c.1002C= (p.Phe334=) c.993+2849C= (n.993+2849C=) c.782+3495C= (n.782+3495C=) c.*130C= (n.*130C=) c.*42C= (n.*42C=) c.54-996C= c.906C= (p.Phe302=) c.990C= (p.Phe330=) c.546C= (p.Phe182=) | |
17 | g.7670686G>T | CA397832608 | TP53 | c.1023C>A (p.Phe341Leu) c.627C>A (p.Phe209Leu) c.744C>A (p.Phe248Leu) c.1002C>A (p.Phe334Leu) c.993+2849C>A (n.993+2849C>A) c.782+3495C>A (n.782+3495C>A) c.*130C>A (n.*130C>A) c.*42C>A (n.*42C>A) c.54-996C>A c.906C>A (p.Phe302Leu) c.990C>A (p.Phe330Leu) c.546C>A (p.Phe182Leu) | ClinVar dbSNP COSMIC |
17 | g.7670686_7670687del | CA645587308 | TP53 | c.1022_1023del (p.Phe341SerfsTer5) c.626_627del (p.Phe209SerfsTer5) c.743_744del (p.Phe248SerfsTer5) c.1001_1002del (p.Phe334SerfsTer5) c.993+2848_993+2849del (n.993+2848_993+2849del) c.782+3494_782+3495del (n.782+3494_782+3495del) c.*129_*130del (n.*129_*130del) c.*41_*42del (n.*41_*42del) c.54-997_54-996del c.905_906del (p.Phe302SerfsTer5) c.989_990del (p.Phe330SerfsTer5) c.545_546del (p.Phe182SerfsTer5) | COSMIC COSMIC |
17 | g.7670687A>C | CA397832615 | TP53 | c.1022T>G (p.Phe341Cys) c.626T>G (p.Phe209Cys) c.743T>G (p.Phe248Cys) c.1001T>G (p.Phe334Cys) c.993+2848T>G (n.993+2848T>G) c.782+3494T>G (n.782+3494T>G) c.*129T>G (n.*129T>G) c.*41T>G (n.*41T>G) c.54-997T>G c.905T>G (p.Phe302Cys) c.989T>G (p.Phe330Cys) c.545T>G (p.Phe182Cys) | COSMIC |
17 | g.7670687A>G | CA397832622 | TP53 | c.1022T>C (p.Phe341Ser) c.626T>C (p.Phe209Ser) c.743T>C (p.Phe248Ser) c.1001T>C (p.Phe334Ser) c.993+2848T>C (n.993+2848T>C) c.782+3494T>C (n.782+3494T>C) c.*129T>C (n.*129T>C) c.*41T>C (n.*41T>C) c.54-997T>C c.905T>C (p.Phe302Ser) c.989T>C (p.Phe330Ser) c.545T>C (p.Phe182Ser) | COSMIC COSMIC |
17 | g.7670687A>T | CA397832617 | TP53 | c.1022T>A (p.Phe341Tyr) c.626T>A (p.Phe209Tyr) c.743T>A (p.Phe248Tyr) c.1001T>A (p.Phe334Tyr) c.993+2848T>A (n.993+2848T>A) c.782+3494T>A (n.782+3494T>A) c.*129T>A (n.*129T>A) c.*41T>A (n.*41T>A) c.54-997T>A c.905T>A (p.Phe302Tyr) c.989T>A (p.Phe330Tyr) c.545T>A (p.Phe182Tyr) | dbSNP |
17 | g.7670687_7670688delinsAA | CA2245942926 | TP53 | c.1021_1022delinsTT (p.Phe341=) c.625_626delinsTT (p.Phe209=) c.742_743delinsTT (p.Phe248=) c.1000_1001delinsTT (p.Phe334=) c.993+2847_993+2848delinsTT (n.993+2847_993+2848delinsTT) c.782+3493_782+3494delinsTT (n.782+3493_782+3494delinsTT) c.*128_*129delinsTT (n.*128_*129delinsTT) c.*40_*41delinsTT (n.*40_*41delinsTT) c.54-998_54-997delinsTT c.904_905delinsTT (p.Phe302=) c.988_989delinsTT (p.Phe330=) c.544_545delinsTT (p.Phe182=) | |
17 | g.7670687_7670688delinsCT | CA2580094859 | TP53 | c.1021_1022delinsAG (p.Phe341Ser) c.625_626delinsAG (p.Phe209Ser) c.742_743delinsAG (p.Phe248Ser) c.1000_1001delinsAG (p.Phe334Ser) c.993+2847_993+2848delinsAG (n.993+2847_993+2848delinsAG) c.782+3493_782+3494delinsAG (n.782+3493_782+3494delinsAG) c.*128_*129delinsAG (n.*128_*129delinsAG) c.*40_*41delinsAG (n.*40_*41delinsAG) c.54-998_54-997delinsAG c.904_905delinsAG (p.Phe302Ser) c.988_989delinsAG (p.Phe330Ser) c.544_545delinsAG (p.Phe182Ser) | ClinVar |
17 | g.7670688del | CA497712606 | TP53 | c.1022del (p.Phe341SerfsTer4) c.626del (p.Phe209SerfsTer4) c.743del (p.Phe248SerfsTer4) c.1001del (p.Phe334SerfsTer4) c.993+2848del (n.993+2848del) c.782+3494del (n.782+3494del) c.*129del (n.*129del) c.*41del (n.*41del) c.54-997del c.905del (p.Phe302SerfsTer4) c.989del (p.Phe330SerfsTer4) c.545del (p.Phe182SerfsTer4) | ClinVar COSMIC |
17 | g.7670687_7670694del | CA645587311 | TP53 | c.1015_1022del (p.Glu339ProfsTer5) c.619_626del (p.Glu207ProfsTer5) c.736_743del (p.Glu246ProfsTer5) c.994_1001del (p.Glu332ProfsTer5) c.993+2841_993+2848del (n.993+2841_993+2848del) c.782+3487_782+3494del (n.782+3487_782+3494del) c.*122_*129del (n.*122_*129del) c.*34_*41del (n.*34_*41del) c.54-1004_54-997del c.898_905del (p.Glu300ProfsTer5) c.982_989del (p.Glu328ProfsTer5) c.538_545del (p.Glu180ProfsTer5) | COSMIC COSMIC |
17 | g.7670688A>C | CA397832624 | TP53 | c.1021T>G (p.Phe341Val) c.625T>G (p.Phe209Val) c.742T>G (p.Phe248Val) c.1000T>G (p.Phe334Val) c.993+2847T>G (n.993+2847T>G) c.782+3493T>G (n.782+3493T>G) c.*128T>G (n.*128T>G) c.*40T>G (n.*40T>G) c.54-998T>G c.904T>G (p.Phe302Val) c.988T>G (p.Phe330Val) c.544T>G (p.Phe182Val) | |
17 | g.7670688A>G | CA397832628 | TP53 | c.1021T>C (p.Phe341Leu) c.625T>C (p.Phe209Leu) c.742T>C (p.Phe248Leu) c.1000T>C (p.Phe334Leu) c.993+2847T>C (n.993+2847T>C) c.782+3493T>C (n.782+3493T>C) c.*128T>C (n.*128T>C) c.*40T>C (n.*40T>C) c.54-998T>C c.904T>C (p.Phe302Leu) c.988T>C (p.Phe330Leu) c.544T>C (p.Phe182Leu) | |
17 | g.7670688A>T | CA397832636 | TP53 | c.1021T>A (p.Phe341Ile) c.625T>A (p.Phe209Ile) c.742T>A (p.Phe248Ile) c.1000T>A (p.Phe334Ile) c.993+2847T>A (n.993+2847T>A) c.782+3493T>A (n.782+3493T>A) c.*128T>A (n.*128T>A) c.*40T>A (n.*40T>A) c.54-998T>A c.904T>A (p.Phe302Ile) c.988T>A (p.Phe330Ile) c.544T>A (p.Phe182Ile) | ClinVar dbSNP |
17 | g.7670688delinsTTC | CA1139665113 | TP53 | c.1021delinsGAA (p.Phe341GlufsTer5) c.625delinsGAA (p.Phe209GlufsTer5) c.742delinsGAA (p.Phe248GlufsTer5) c.1000delinsGAA (p.Phe334GlufsTer5) c.993+2847delinsGAA (n.993+2847delinsGAA) c.782+3493delinsGAA (n.782+3493delinsGAA) c.*128delinsGAA (n.*128delinsGAA) c.*40delinsGAA (n.*40delinsGAA) c.54-998delinsGAA c.904delinsGAA (p.Phe302GlufsTer5) c.988delinsGAA (p.Phe330GlufsTer5) c.544delinsGAA (p.Phe182GlufsTer5) | ClinVar dbSNP |
17 | g.7670688_7670694dup | CA645587313 | TP53 | c.1015_1021dup (p.Phe341Ter) c.619_625dup (p.Phe209Ter) c.736_742dup (p.Phe248Ter) c.994_1000dup (p.Phe334Ter) c.993+2841_993+2847dup (n.993+2841_993+2847dup) c.782+3487_782+3493dup (n.782+3487_782+3493dup) c.*122_*128dup (n.*122_*128dup) c.*34_*40dup (n.*34_*40dup) c.54-1004_54-998dup c.898_904dup (p.Phe302Ter) c.982_988dup (p.Phe330Ter) c.538_544dup (p.Phe182Ter) | COSMIC COSMIC |
17 | g.7670689C>A | CA397832641 | TP53 | c.1020G>T (p.Met340Ile) c.624G>T (p.Met208Ile) c.741G>T (p.Met247Ile) c.999G>T (p.Met333Ile) c.993+2846G>T (n.993+2846G>T) c.782+3492G>T (n.782+3492G>T) c.*127G>T (n.*127G>T) c.*39G>T (n.*39G>T) c.54-999G>T c.903G>T (p.Met301Ile) c.987G>T (p.Met329Ile) c.543G>T (p.Met181Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7670689C= | CA2245942934 | TP53 | c.1020G= (p.Met340=) c.624G= (p.Met208=) c.741G= (p.Met247=) c.999G= (p.Met333=) c.993+2846G= (n.993+2846G=) c.782+3492G= (n.782+3492G=) c.*127G= (n.*127G=) c.*39G= (n.*39G=) c.54-999G= c.903G= (p.Met301=) c.987G= (p.Met329=) c.543G= (p.Met181=) | |
17 | g.7670689C>G | CA397832643 | TP53 | c.1020G>C (p.Met340Ile) c.624G>C (p.Met208Ile) c.741G>C (p.Met247Ile) c.999G>C (p.Met333Ile) c.993+2846G>C (n.993+2846G>C) c.782+3492G>C (n.782+3492G>C) c.*127G>C (n.*127G>C) c.*39G>C (n.*39G>C) c.54-999G>C c.903G>C (p.Met301Ile) c.987G>C (p.Met329Ile) c.543G>C (p.Met181Ile) | dbSNP |
17 | g.7670689C>T | CA397832656 | TP53 | c.1020G>A (p.Met340Ile) c.624G>A (p.Met208Ile) c.741G>A (p.Met247Ile) c.999G>A (p.Met333Ile) c.993+2846G>A (n.993+2846G>A) c.782+3492G>A (n.782+3492G>A) c.*127G>A (n.*127G>A) c.*39G>A (n.*39G>A) c.54-999G>A c.903G>A (p.Met301Ile) c.987G>A (p.Met329Ile) c.543G>A (p.Met181Ile) | ClinVar dbSNP COSMIC |
17 | g.7670689_7670709del | CA645587314 | TP53 | c.1000_1020del (p.Gly334_Met340del) c.604_624del (p.Gly202_Met208del) c.721_741del (p.Gly241_Met247del) c.979_999del (p.Gly327_Met333del) c.993+2826_993+2846del (n.993+2826_993+2846del) c.782+3472_782+3492del (n.782+3472_782+3492del) c.*107_*127del (n.*107_*127del) c.*19_*39del (n.*19_*39del) c.54-1019_54-999del c.883_903del (p.Gly295_Met301del) c.967_987del (p.Gly323_Met329del) c.523_543del (p.Gly175_Met181del) | COSMIC COSMIC |
17 | g.7670690A= | CA2245942943 | TP53 | c.1019T= (p.Met340=) c.623T= (p.Met208=) c.740T= (p.Met247=) c.998T= (p.Met333=) c.993+2845T= (n.993+2845T=) c.782+3491T= (n.782+3491T=) c.*126T= (n.*126T=) c.*38T= (n.*38T=) c.54-1000T= c.902T= (p.Met301=) c.986T= (p.Met329=) c.542T= (p.Met181=) | |
17 | g.7670690A>C | CA397832661 | TP53 | c.1019T>G (p.Met340Arg) c.623T>G (p.Met208Arg) c.740T>G (p.Met247Arg) c.998T>G (p.Met333Arg) c.993+2845T>G (n.993+2845T>G) c.782+3491T>G (n.782+3491T>G) c.*126T>G (n.*126T>G) c.*38T>G (n.*38T>G) c.54-1000T>G c.902T>G (p.Met301Arg) c.986T>G (p.Met329Arg) c.542T>G (p.Met181Arg) | |
17 | g.7670690A>G | CA397832662 | TP53 | c.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) | |
17 | g.7670690A>T | CA397832663 | TP53 | c.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 |
17 | g.7670690_7670691delinsAT | CA2245942945 | TP53 | c.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=) | |
17 | g.7670691del | CA645369695 | TP53 | c.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 |
17 | g.7670691T>A | CA397832664 | TP53 | c.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 |
17 | g.7670691T>C | CA397832665 | TP53 | c.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 |
17 | g.7670691T>G | CA397832666 | TP53 | c.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) | |
17 | g.7670691_7670693del | CA645587315 | TP53 | c.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 |
17 | g.7670691_7670695dup | CA645587317 | TP53 | c.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 |
17 | g.7670691_7670699del | CA645587316 | TP53 | c.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 |
17 | g.7670692del | CA645587318 | TP53 | c.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 |
17 | g.7670692C>A | CA397832670 | TP53 | c.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) | |
17 | g.7670692C>G | CA397832668 | TP53 | c.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 |
17 | g.7670692C>T | CA497712607 | TP53 | c.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 |
17 | g.7670692dup | CA645587319 | TP53 | c.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 |
17 | g.7670692_7670695del | CA645587320 | TP53 | c.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 |
17 | g.7670693T>A | CA397832671 | TP53 | c.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 |
17 | g.7670693T>C | CA397832675 | TP53 | c.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 |
17 | g.7670693T>G | CA397832681 | TP53 | c.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) | |
17 | g.7670693T= | CA2245942959 | TP53 | c.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=) | |
17 | g.7670693_7670695del | CA645587321 | TP53 | c.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 |
17 | g.7670694del | CA645587322 | TP53 | c.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 |
17 | g.7670694C>A | CA397832685 | TP53 | c.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 |
17 | g.7670694C= | CA2245942975 | TP53 | c.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=) | |
17 | g.7670694C>G | CA000018 | TP53 | c.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 |
17 | g.7670694C>T | CA000017 | TP53 | c.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 |
17 | g.7670694_7670695insA | CA913190572 | TP53 | c.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 |
17 | g.7670695del | CA497712608 | TP53 | c.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 |
17 | g.7670695G>A | CA000016 | TP53 | c.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 |
17 | g.7670695G>C | CA000848 | TP53 | c.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 |
17 | g.7670695G= | CA2245943006 | TP53 | c.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=) | |
17 | g.7670695G>T | CA397832711 | TP53 | c.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) | |
17 | g.7670695dup | CA2499224952 | TP53 | c.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 |
17 | g.7670696A= | CA2245943025 | TP53 | c.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=) | |
17 | g.7670696A>C | CA397832713 | TP53 | c.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 |
17 | g.7670696A>G | CA16620610 | TP53 | c.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 |
17 | g.7670696A>T | CA397832733 | TP53 | c.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 |
17 | g.7670697A>C | CA397832736 | TP53 | c.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) | |
17 | g.7670697A>G | CA397832735 | TP53 | c.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 |
17 | g.7670697A>T | CA397832734 | TP53 | c.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 |
17 | g.7670697_7670699delinsAGC | CA2245943031 | TP53 | c.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=) | |
17 | g.7670698G>A | CA497712609 | TP53 | c.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 |
17 | g.7670698G>C | CA497712610 | TP53 | c.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 |
17 | g.7670698G= | CA2245943043 | TP53 | c.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=) | |
17 | g.7670698G>T | CA497712611 | TP53 | c.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=) | |
17 | g.7670700_7670701del | CA645369696 | TP53 | c.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 |
17 | g.7670699C>A | CA000015 | TP53 | c.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 |
17 | g.7670699C= | CA2245943066 | TP53 | c.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=) | |
17 | g.7670699C>G | CA000014 | TP53 | c.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 |
17 | g.7670699C>T | CA000013 | TP53 | c.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 |
17 | g.7670702_7670707del | CA2580094866 | TP53 | c.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 |
17 | g.7670700del | CA497712612 | TP53 | c.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 |
17 | g.7670700G>A | CA000010 | TP53 | c.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 |
17 | g.7670700G>C | CA10583674 | TP53 | c.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 |
17 | g.7670700G= | CA2245943077 | TP53 | c.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=) | |
17 | g.7670700G>T | CA397832787 | TP53 | c.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 |
17 | g.7670700_7670706del | CA645587325 | TP53 | c.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 |
17 | g.7670701C>A | CA397832789 | TP53 | c.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) | |
17 | g.7670701C= | CA2245943090 | TP53 | c.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=) | |
17 | g.7670701C>G | CA397832794 | TP53 | c.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 |
17 | g.7670701C>T | CA497712613 | TP53 | c.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 |
17 | g.7670701_7670702insCACGCC | CA645587326 | TP53 | c.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 |
17 | g.7670702_7670703dup | CA2697559390 | TP53 | c.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 |
17 | g.7670702T>A | CA397832795 | TP53 | c.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 |
17 | g.7670702T>C | CA397832796 | TP53 | c.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 |
17 | g.7670702T>G | CA397832797 | TP53 | c.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 |
17 | g.7670703del | CA645587328 | TP53 | c.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 |
17 | g.7670703C>A | CA397832798 | TP53 | c.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 |
17 | g.7670703C>G | CA397832800 | TP53 | c.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 |
17 | g.7670703C>T | CA397832812 | TP53 | c.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 |
17 | g.7670704_7670705del | CA645587327 | TP53 | c.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 |
17 | g.7670707_7670712dup | CA2695224216 | TP53 | c.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) | |
17 | g.7670707_7670712del | CA2580094867 | TP53 | c.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 |
17 | g.7670704A>C | CA497712614 | TP53 | c.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 |
17 | g.7670704A>G | CA497712615 | TP53 | c.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=) | |
17 | g.7670704A>T | CA497712616 | TP53 | c.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 |
17 | g.7670705del | CA497712617 | TP53 | c.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 |
17 | g.7670705C>A | CA397832844 | TP53 | c.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 |
17 | g.7670705C= | CA2245943099 | TP53 | c.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=) | |
17 | g.7670705C>G | CA397832837 | TP53 | c.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 |
17 | g.7670705C>T | CA000869 | TP53 | c.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 |
17 | g.7670706_7670707del | CA891842220 | TP53 | c.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) | |
17 | g.7670705_7670737delinsCGCCCACGGATCTGCAGCAACAGAGGAGGGGGA | CA2245943102 | TP53 | c.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 | |
17 | g.7670705_7670706insT | CA645587329 | TP53 | c.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 |
17 | g.7670706G>A | CA000009 | TP53 | c.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 |
17 | g.7670706G>C | CA397832857 | TP53 | c.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 |
17 | g.7670706G= | CA2245943127 | TP53 | c.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=) | |
17 | g.7670706G>T | CA397832858 | TP53 | c.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) | |
17 | g.7670708_7670719del | CA891842222 | TP53 | c.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 | |
17 | g.7670707_7670738del | CA913190574 | TP53 | c.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 |
17 | g.7670706_7670707insA | CA497712619 | TP53 | c.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) | |
17 | g.7670707C>A | CA497712620 | TP53 | c.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 |
17 | g.7670707C= | CA2245943143 | TP53 | c.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=) | |
17 | g.7670707C>G | CA497712618 | TP53 | c.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=) | |
17 | g.7670707C>T | CA000008 | TP53 | c.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 |
17 | g.7670709del | CA2838032358 | TP53 | c.1002del (p.Arg335ValfsTer10) c.606del (p.Arg203ValfsTer10) c.723del (p.Arg242ValfsTer10) c.981del (p.Arg328ValfsTer10) c.993+2828del (n.993+2828del) c.782+3474del (n.782+3474del) c.*109del (n.*109del) c.*21del (n.*21del) c.54-1017del c.885del (p.Arg296ValfsTer10) c.969del (p.Arg324ValfsTer10) c.525del (p.Arg176ValfsTer10) | |
17 | g.7670708C>A | CA397832861 | TP53 | c.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 |
17 | g.7670708C= | CA2245943153 | TP53 | c.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=) | |
17 | g.7670708C>G | CA397832868 | TP53 | c.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 |
17 | g.7670708C>T | CA397832871 | TP53 | c.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 |
17 | g.7670709C>A | CA397832878 | TP53 | c.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 |
17 | g.7670709C= | CA2245943162 | TP53 | c.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=) | |
17 | g.7670709C>G | CA000007 | TP53 | c.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 |
17 | g.7670709C>T | CA000006 | TP53 | c.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 |
17 | g.7670710_7670711dup | CA645587330 | TP53 | c.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 |
17 | g.7670710A>C | CA497712621 | TP53 | c.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 |
17 | g.7670710A>G | CA497712622 | TP53 | c.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=) | |
17 | g.7670710A>T | CA497712623 | TP53 | c.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 |
17 | g.7670711C>A | CA397832914 | TP53 | c.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 |
17 | g.7670711C= | CA2245943187 | TP53 | c.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=) | |
17 | g.7670711C>G | CA397832915 | TP53 | c.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 |
17 | g.7670711C>T | CA000533 | TP53 | c.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 |
17 | g.7670711_7670713delinsCGG | CA2245943181 | TP53 | c.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=) | |
17 | g.7670712G>A | CA000530 | TP53 | c.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 |
17 | g.7670712G>C | CA000888 | TP53 | c.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 |
17 | g.7670712G= | CA2245943203 | TP53 | c.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=) | |
17 | g.7670712G>T | CA10590126 | TP53 | c.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) | |
17 | g.7670712_7670713del | CA913190575 | TP53 | c.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 |
17 | g.7670713dup | CA645587331 | TP53 | c.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 |
17 | g.7670713del | CA497712624 | TP53 | c.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 |
17 | g.7670713G>A | CA497712625 | TP53 | c.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 |
17 | g.7670713G>C | CA397832931 | TP53 | c.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 |
17 | g.7670713G= | CA2245943220 | TP53 | c.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=) | |
17 | g.7670713G>T | CA497712626 | TP53 | c.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 |
17 | g.7670714A>C | CA397832972 | TP53 | c.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 |
17 | g.7670714A>G | CA397832942 | TP53 | c.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 |
17 | g.7670714A>T | CA397832951 | TP53 | c.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 |
17 | g.7670715del | CA497712627 | TP53 | c.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 |
17 | g.7670715T>A | CA397832973 | TP53 | c.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) | |
17 | g.7670715T>C | CA397832975 | TP53 | c.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 |
17 | g.7670715T>G | CA397832978 | TP53 | c.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) | |
17 | g.7670715dup | CA2840326739 | TP53 | c.994dup (p.Ile332AsnfsTer5) c.598dup (p.Ile200AsnfsTer5) c.715dup (p.Ile239AsnfsTer5) c.973dup (p.Ile325AsnfsTer5) c.993+2820dup (n.993+2820dup) c.782+3466dup (n.782+3466dup) c.*101dup (n.*101dup) c.*13dup (n.*13dup) c.54-1025dup c.877dup (p.Ile293AsnfsTer5) c.961dup (p.Ile321AsnfsTer5) c.517dup (p.Ile173AsnfsTer5) | |
17 | g.7670716C>A | CA397832981 | TP53 | c.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 |
17 | g.7670716C= | CA2245943257 | TP53 | c.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=) | |
17 | g.7670716C>G | CA10580906 | TP53 | c.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 |
17 | g.7670716C>T | CA000528 | TP53 | c.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 |
17 | g.7670717T>A | CA397832984 | TP53 | c.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 |
17 | g.7670717T>C | CA287485766 | TP53 | c.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 |
17 | g.7670717T>G | CA397832988 | TP53 | c.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 |
17 | g.7670717T= | CA2245943262 | TP53 | c.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=) | |
17 | g.7670718del | CA2573154616 | TP53 | c.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 |
17 | g.7670718G>A | CA2586963901 | TP53 | c.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 |
17 | g.7670718G>C | CA645587332 | TP53 | c.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 |
17 | g.7670718G>T | CA10575445 | TP53 | c.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 |
17 | g.7670718_7670719insAAGGGTGAAATATTCTCCATC | CA2733134753 | TP53 | c.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 |
17 | g.7670719C>A | CA2733134752 | TP53 | c.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 |
17 | g.7670719C>T | CA2733134751 | TP53 | c.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 |
17 | g.7670720A= | CA2245943276 | TP53 | c.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=) | |
17 | g.7670720A>C | CA2825002628 | TP53 | c.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 |
17 | g.7670720A>G | CA000900 | TP53 | c.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 |
17 | g.7670720_7670721insCC | CA2573154618 | TP53 | c.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 |
17 | g.7670721G>A | CA2499224953 | TP53 | c.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 |
17 | g.7670721G>C | CA2573154617 | TP53 | c.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 |
17 | g.7670721G= | CA2245943290 | TP53 | c.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=) | |
17 | g.7670721G>T | CA658656521 | TP53 | c.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 |
17 | g.7670721_7670722insTGGTTTCTT | CA2733135127 | TP53 | c.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 |
17 | g.7670722C>A | CA2733135125 | TP53 | c.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 |
17 | g.7670722C>G | CA2733135107 | TP53 | c.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 |
17 | g.7670722C>T | CA2733134999 | TP53 | c.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 |
17 | g.7670723A>C | CA2499224954 | TP53 | c.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 |
17 | g.7670723A>G | CA2733135135 | TP53 | c.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 |
17 | g.7670723A>T | CA645587333 | TP53 | c.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 |
17 | g.7670724A>G | CA2733135162 | TP53 | c.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 |
17 | g.7670725C>A | CA2733135209 | TP53 | c.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 |
17 | g.7670725C>G | CA2499224955 | TP53 | c.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 |
17 | g.7670725C>T | CA2733135208 | TP53 | c.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 |
17 | g.7670726_7670729delinsAGAG | CA2245943297 | TP53 | c.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) | |
17 | g.7670727G>A | CA16607843 | TP53 | c.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 |
17 | g.7670727G>C | CA2732943615 | TP53 | c.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 |
17 | g.7670727G= | CA2245943312 | TP53 | c.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=) | |
17 | g.7670727G>T | CA2732943616 | TP53 | c.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 |
17 | g.7670727dup | CA2839074795 | TP53 | c.994-12dup (n.994-12dup) c.598-12dup (n.598-12dup) c.715-12dup (n.715-12dup) c.973-12dup (n.973-12dup) c.993+2808dup (n.993+2808dup) c.782+3454dup (n.782+3454dup) c.*101-12dup (n.*101-12dup) c.*13-12dup (n.*13-12dup) c.54-1037dup c.877-12dup (n.877-12dup) c.961-12dup (n.961-12dup) c.517-12dup (n.517-12dup) | |
17 | g.7670731_7670733del | CA000907 | TP53 | c.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 |
17 | g.7670728A>C | CA2576230526 | TP53 | c.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 |
17 | g.7670729G>A | CA2733135287 | TP53 | c.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 |
17 | g.7670729G>T | CA2635872078 | TP53 | c.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 |