Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.7669589_7676614delCA2499224945TP53c.-19_*21del
c.-21-1377_*21del
c.-19_*310del
c.-19_*222del
c.-253_*21del
c.-136_*222del
c.-136_*21del
c.-136_*310del
c.-136_983+1021del
ClinVar
17g.7669609_7676594delCA2581463470TP53c.1_1182del
c.-21-1358_786del
c.1_903del
c.1_1161del
c.1_994-3365del
c.1_782+4572del
c.1_*289del
c.1_*201del
c.-234_1065del
c.-117_*201del
c.1_1149del
c.-117_1065del
c.-117_*289del
c.-117_983+1000del
17g.7670588_7670595delinsGAAGGGGCCA2245942166TP53c.1100+14_1100+21delinsGCCCCTTC (n.1100+14_1100+21delinsGCCCCTTC)
c.704+14_704+21delinsGCCCCTTC (n.704+14_704+21delinsGCCCCTTC)
c.821+14_821+21delinsGCCCCTTC (n.821+14_821+21delinsGCCCCTTC)
c.1079+14_1079+21delinsGCCCCTTC (n.1079+14_1079+21delinsGCCCCTTC)
c.993+2940_993+2947delinsGCCCCTTC (n.993+2940_993+2947delinsGCCCCTTC)
c.782+3586_782+3593delinsGCCCCTTC (n.782+3586_782+3593delinsGCCCCTTC)
c.*207+14_*207+21delinsGCCCCTTC (n.*207+14_*207+21delinsGCCCCTTC)
c.*119+14_*119+21delinsGCCCCTTC (n.*119+14_*119+21delinsGCCCCTTC)
c.54-905_54-898delinsGCCCCTTC
c.983+14_983+21delinsGCCCCTTC (n.983+14_983+21delinsGCCCCTTC)
c.1067+14_1067+21delinsGCCCCTTC (n.1067+14_1067+21delinsGCCCCTTC)
c.623+14_623+21delinsGCCCCTTC (n.623+14_623+21delinsGCCCCTTC)
17g.7670589_7670595delCA658798691TP53c.1100+14_1100+20del (n.1100+14_1100+20del)
c.704+14_704+20del (n.704+14_704+20del)
c.821+14_821+20del (n.821+14_821+20del)
c.1079+14_1079+20del (n.1079+14_1079+20del)
c.993+2940_993+2946del (n.993+2940_993+2946del)
c.782+3586_782+3592del (n.782+3586_782+3592del)
c.*207+14_*207+20del (n.*207+14_*207+20del)
c.*119+14_*119+20del (n.*119+14_*119+20del)
c.54-905_54-899del
c.983+14_983+20del (n.983+14_983+20del)
c.1067+14_1067+20del (n.1067+14_1067+20del)
c.623+14_623+20del (n.623+14_623+20del)
ClinVar dbSNP
17g.7670595C>ACA2733131229TP53c.1100+14G>T (n.1100+14G>T)
c.704+14G>T (n.704+14G>T)
c.821+14G>T (n.821+14G>T)
c.1079+14G>T (n.1079+14G>T)
c.993+2940G>T (n.993+2940G>T)
c.782+3586G>T (n.782+3586G>T)
c.*207+14G>T (n.*207+14G>T)
c.*119+14G>T (n.*119+14G>T)
c.54-905G>T
c.983+14G>T (n.983+14G>T)
c.1067+14G>T (n.1067+14G>T)
c.623+14G>T (n.623+14G>T)
dbSNP
17g.7670595C>GCA2733131260TP53c.1100+14G>C (n.1100+14G>C)
c.704+14G>C (n.704+14G>C)
c.821+14G>C (n.821+14G>C)
c.1079+14G>C (n.1079+14G>C)
c.993+2940G>C (n.993+2940G>C)
c.782+3586G>C (n.782+3586G>C)
c.*207+14G>C (n.*207+14G>C)
c.*119+14G>C (n.*119+14G>C)
c.54-905G>C
c.983+14G>C (n.983+14G>C)
c.1067+14G>C (n.1067+14G>C)
c.623+14G>C (n.623+14G>C)
dbSNP
17g.7670595C>TCA2573154611TP53c.1100+14G>A (n.1100+14G>A)
c.704+14G>A (n.704+14G>A)
c.821+14G>A (n.821+14G>A)
c.1079+14G>A (n.1079+14G>A)
c.993+2940G>A (n.993+2940G>A)
c.782+3586G>A (n.782+3586G>A)
c.*207+14G>A (n.*207+14G>A)
c.*119+14G>A (n.*119+14G>A)
c.54-905G>A
c.983+14G>A (n.983+14G>A)
c.1067+14G>A (n.1067+14G>A)
c.623+14G>A (n.623+14G>A)
ClinVar dbSNP gnomAD v4
17g.7670596T>ACA2732924067TP53c.1100+13A>T (n.1100+13A>T)
c.704+13A>T (n.704+13A>T)
c.821+13A>T (n.821+13A>T)
c.1079+13A>T (n.1079+13A>T)
c.993+2939A>T (n.993+2939A>T)
c.782+3585A>T (n.782+3585A>T)
c.*207+13A>T (n.*207+13A>T)
c.*119+13A>T (n.*119+13A>T)
c.54-906A>T
c.983+13A>T (n.983+13A>T)
c.1067+13A>T (n.1067+13A>T)
c.623+13A>T (n.623+13A>T)
dbSNP
17g.7670596T>CCA000037TP53c.1100+13A>G (n.1100+13A>G)
c.704+13A>G (n.704+13A>G)
c.821+13A>G (n.821+13A>G)
c.1079+13A>G (n.1079+13A>G)
c.993+2939A>G (n.993+2939A>G)
c.782+3585A>G (n.782+3585A>G)
c.*207+13A>G (n.*207+13A>G)
c.*119+13A>G (n.*119+13A>G)
c.54-906A>G
c.983+13A>G (n.983+13A>G)
c.1067+13A>G (n.1067+13A>G)
c.623+13A>G (n.623+13A>G)
ClinVar dbSNP gnomAD v4
17g.7670596T>GCA287485705TP53c.1100+13A>C (n.1100+13A>C)
c.704+13A>C (n.704+13A>C)
c.821+13A>C (n.821+13A>C)
c.1079+13A>C (n.1079+13A>C)
c.993+2939A>C (n.993+2939A>C)
c.782+3585A>C (n.782+3585A>C)
c.*207+13A>C (n.*207+13A>C)
c.*119+13A>C (n.*119+13A>C)
c.54-906A>C
c.983+13A>C (n.983+13A>C)
c.1067+13A>C (n.1067+13A>C)
c.623+13A>C (n.623+13A>C)
dbSNP
17g.7670596T=CA2245942197TP53c.1100+13A= (n.1100+13A=)
c.704+13A= (n.704+13A=)
c.821+13A= (n.821+13A=)
c.1079+13A= (n.1079+13A=)
c.993+2939A= (n.993+2939A=)
c.782+3585A= (n.782+3585A=)
c.*207+13A= (n.*207+13A=)
c.*119+13A= (n.*119+13A=)
c.54-906A=
c.983+13A= (n.983+13A=)
c.1067+13A= (n.1067+13A=)
c.623+13A= (n.623+13A=)
17g.7670597G>CCA913188747TP53c.1100+12C>G (n.1100+12C>G)
c.704+12C>G (n.704+12C>G)
c.821+12C>G (n.821+12C>G)
c.1079+12C>G (n.1079+12C>G)
c.993+2938C>G (n.993+2938C>G)
c.782+3584C>G (n.782+3584C>G)
c.*207+12C>G (n.*207+12C>G)
c.*119+12C>G (n.*119+12C>G)
c.54-907C>G
c.983+12C>G (n.983+12C>G)
c.1067+12C>G (n.1067+12C>G)
c.623+12C>G (n.623+12C>G)
ClinVar dbSNP
17g.7670597G=CA2245942208TP53c.1100+12C= (n.1100+12C=)
c.704+12C= (n.704+12C=)
c.821+12C= (n.821+12C=)
c.1079+12C= (n.1079+12C=)
c.993+2938C= (n.993+2938C=)
c.782+3584C= (n.782+3584C=)
c.*207+12C= (n.*207+12C=)
c.*119+12C= (n.*119+12C=)
c.54-907C=
c.983+12C= (n.983+12C=)
c.1067+12C= (n.1067+12C=)
c.623+12C= (n.623+12C=)
17g.7670597G>TCA2576230503TP53c.1100+12C>A (n.1100+12C>A)
c.704+12C>A (n.704+12C>A)
c.821+12C>A (n.821+12C>A)
c.1079+12C>A (n.1079+12C>A)
c.993+2938C>A (n.993+2938C>A)
c.782+3584C>A (n.782+3584C>A)
c.*207+12C>A (n.*207+12C>A)
c.*119+12C>A (n.*119+12C>A)
c.54-907C>A
c.983+12C>A (n.983+12C>A)
c.1067+12C>A (n.1067+12C>A)
c.623+12C>A (n.623+12C>A)
gnomAD v4
17g.7670598A>GCA2733131549TP53c.1100+11T>C (n.1100+11T>C)
c.704+11T>C (n.704+11T>C)
c.821+11T>C (n.821+11T>C)
c.1079+11T>C (n.1079+11T>C)
c.993+2937T>C (n.993+2937T>C)
c.782+3583T>C (n.782+3583T>C)
c.*207+11T>C (n.*207+11T>C)
c.*119+11T>C (n.*119+11T>C)
c.54-908T>C
c.983+11T>C (n.983+11T>C)
c.1067+11T>C (n.1067+11T>C)
c.623+11T>C (n.623+11T>C)
dbSNP
17g.7670598A>TCA2733131686TP53c.1100+11T>A (n.1100+11T>A)
c.704+11T>A (n.704+11T>A)
c.821+11T>A (n.821+11T>A)
c.1079+11T>A (n.1079+11T>A)
c.993+2937T>A (n.993+2937T>A)
c.782+3583T>A (n.782+3583T>A)
c.*207+11T>A (n.*207+11T>A)
c.*119+11T>A (n.*119+11T>A)
c.54-908T>A
c.983+11T>A (n.983+11T>A)
c.1067+11T>A (n.1067+11T>A)
c.623+11T>A (n.623+11T>A)
dbSNP
17g.7670599G>ACA624725863TP53c.1100+10C>T (n.1100+10C>T)
c.704+10C>T (n.704+10C>T)
c.821+10C>T (n.821+10C>T)
c.1079+10C>T (n.1079+10C>T)
c.993+2936C>T (n.993+2936C>T)
c.782+3582C>T (n.782+3582C>T)
c.*207+10C>T (n.*207+10C>T)
c.*119+10C>T (n.*119+10C>T)
c.54-909C>T
c.983+10C>T (n.983+10C>T)
c.1067+10C>T (n.1067+10C>T)
c.623+10C>T (n.623+10C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7670599G=CA2245942220TP53c.1100+10C= (n.1100+10C=)
c.704+10C= (n.704+10C=)
c.821+10C= (n.821+10C=)
c.1079+10C= (n.1079+10C=)
c.993+2936C= (n.993+2936C=)
c.782+3582C= (n.782+3582C=)
c.*207+10C= (n.*207+10C=)
c.*119+10C= (n.*119+10C=)
c.54-909C=
c.983+10C= (n.983+10C=)
c.1067+10C= (n.1067+10C=)
c.623+10C= (n.623+10C=)
17g.7670599G>TCA000734TP53c.1100+10C>A (n.1100+10C>A)
c.704+10C>A (n.704+10C>A)
c.821+10C>A (n.821+10C>A)
c.1079+10C>A (n.1079+10C>A)
c.993+2936C>A (n.993+2936C>A)
c.782+3582C>A (n.782+3582C>A)
c.*207+10C>A (n.*207+10C>A)
c.*119+10C>A (n.*119+10C>A)
c.54-909C>A
c.983+10C>A (n.983+10C>A)
c.1067+10C>A (n.1067+10C>A)
c.623+10C>A (n.623+10C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.7670600G>CCA2732959707TP53c.1100+9C>G (n.1100+9C>G)
c.704+9C>G (n.704+9C>G)
c.821+9C>G (n.821+9C>G)
c.1079+9C>G (n.1079+9C>G)
c.993+2935C>G (n.993+2935C>G)
c.782+3581C>G (n.782+3581C>G)
c.*207+9C>G (n.*207+9C>G)
c.*119+9C>G (n.*119+9C>G)
c.54-910C>G
c.983+9C>G (n.983+9C>G)
c.1067+9C>G (n.1067+9C>G)
c.623+9C>G (n.623+9C>G)
dbSNP
17g.7670600G=CA2245942233TP53c.1100+9C= (n.1100+9C=)
c.704+9C= (n.704+9C=)
c.821+9C= (n.821+9C=)
c.1079+9C= (n.1079+9C=)
c.993+2935C= (n.993+2935C=)
c.782+3581C= (n.782+3581C=)
c.*207+9C= (n.*207+9C=)
c.*119+9C= (n.*119+9C=)
c.54-910C=
c.983+9C= (n.983+9C=)
c.1067+9C= (n.1067+9C=)
c.623+9C= (n.623+9C=)
17g.7670600G>TCA624725866TP53c.1100+9C>A (n.1100+9C>A)
c.704+9C>A (n.704+9C>A)
c.821+9C>A (n.821+9C>A)
c.1079+9C>A (n.1079+9C>A)
c.993+2935C>A (n.993+2935C>A)
c.782+3581C>A (n.782+3581C>A)
c.*207+9C>A (n.*207+9C>A)
c.*119+9C>A (n.*119+9C>A)
c.54-910C>A
c.983+9C>A (n.983+9C>A)
c.1067+9C>A (n.1067+9C>A)
c.623+9C>A (n.623+9C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.7670601T>ACA2635871657TP53c.1100+8A>T (n.1100+8A>T)
c.704+8A>T (n.704+8A>T)
c.821+8A>T (n.821+8A>T)
c.1079+8A>T (n.1079+8A>T)
c.993+2934A>T (n.993+2934A>T)
c.782+3580A>T (n.782+3580A>T)
c.*207+8A>T (n.*207+8A>T)
c.*119+8A>T (n.*119+8A>T)
c.54-911A>T
c.983+8A>T (n.983+8A>T)
c.1067+8A>T (n.1067+8A>T)
c.623+8A>T (n.623+8A>T)
dbSNP gnomAD v4
17g.7670601T>CCA10583673TP53c.1100+8A>G (n.1100+8A>G)
c.704+8A>G (n.704+8A>G)
c.821+8A>G (n.821+8A>G)
c.1079+8A>G (n.1079+8A>G)
c.993+2934A>G (n.993+2934A>G)
c.782+3580A>G (n.782+3580A>G)
c.*207+8A>G (n.*207+8A>G)
c.*119+8A>G (n.*119+8A>G)
c.54-911A>G
c.983+8A>G (n.983+8A>G)
c.1067+8A>G (n.1067+8A>G)
c.623+8A>G (n.623+8A>G)
ClinVar dbSNP gnomAD v4
17g.7670601T>GCA2732931738TP53c.1100+8A>C (n.1100+8A>C)
c.704+8A>C (n.704+8A>C)
c.821+8A>C (n.821+8A>C)
c.1079+8A>C (n.1079+8A>C)
c.993+2934A>C (n.993+2934A>C)
c.782+3580A>C (n.782+3580A>C)
c.*207+8A>C (n.*207+8A>C)
c.*119+8A>C (n.*119+8A>C)
c.54-911A>C
c.983+8A>C (n.983+8A>C)
c.1067+8A>C (n.1067+8A>C)
c.623+8A>C (n.623+8A>C)
dbSNP
17g.7670601T=CA2245942236TP53c.1100+8A= (n.1100+8A=)
c.704+8A= (n.704+8A=)
c.821+8A= (n.821+8A=)
c.1079+8A= (n.1079+8A=)
c.993+2934A= (n.993+2934A=)
c.782+3580A= (n.782+3580A=)
c.*207+8A= (n.*207+8A=)
c.*119+8A= (n.*119+8A=)
c.54-911A=
c.983+8A= (n.983+8A=)
c.1067+8A= (n.1067+8A=)
c.623+8A= (n.623+8A=)
17g.7670602C>ACA497712378TP53c.1100+7G>T (n.1100+7G>T)
c.704+7G>T (n.704+7G>T)
c.821+7G>T (n.821+7G>T)
c.1079+7G>T (n.1079+7G>T)
c.993+2933G>T (n.993+2933G>T)
c.782+3579G>T (n.782+3579G>T)
c.*207+7G>T (n.*207+7G>T)
c.*119+7G>T (n.*119+7G>T)
c.54-912G>T
c.983+7G>T (n.983+7G>T)
c.1067+7G>T (n.1067+7G>T)
c.623+7G>T (n.623+7G>T)
dbSNP COSMIC
17g.7670602C=CA2245942246TP53c.1100+7G= (n.1100+7G=)
c.704+7G= (n.704+7G=)
c.821+7G= (n.821+7G=)
c.1079+7G= (n.1079+7G=)
c.993+2933G= (n.993+2933G=)
c.782+3579G= (n.782+3579G=)
c.*207+7G= (n.*207+7G=)
c.*119+7G= (n.*119+7G=)
c.54-912G=
c.983+7G= (n.983+7G=)
c.1067+7G= (n.1067+7G=)
c.623+7G= (n.623+7G=)
17g.7670602C>GCA2732930949TP53c.1100+7G>C (n.1100+7G>C)
c.704+7G>C (n.704+7G>C)
c.821+7G>C (n.821+7G>C)
c.1079+7G>C (n.1079+7G>C)
c.993+2933G>C (n.993+2933G>C)
c.782+3579G>C (n.782+3579G>C)
c.*207+7G>C (n.*207+7G>C)
c.*119+7G>C (n.*119+7G>C)
c.54-912G>C
c.983+7G>C (n.983+7G>C)
c.1067+7G>C (n.1067+7G>C)
c.623+7G>C (n.623+7G>C)
dbSNP
17g.7670602C>TCA000741TP53c.1100+7G>A (n.1100+7G>A)
c.704+7G>A (n.704+7G>A)
c.821+7G>A (n.821+7G>A)
c.1079+7G>A (n.1079+7G>A)
c.993+2933G>A (n.993+2933G>A)
c.782+3579G>A (n.782+3579G>A)
c.*207+7G>A (n.*207+7G>A)
c.*119+7G>A (n.*119+7G>A)
c.54-912G>A
c.983+7G>A (n.983+7G>A)
c.1067+7G>A (n.1067+7G>A)
c.623+7G>A (n.623+7G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.7670603A>TCA2733131689TP53c.1100+6T>A (n.1100+6T>A)
c.704+6T>A (n.704+6T>A)
c.821+6T>A (n.821+6T>A)
c.1079+6T>A (n.1079+6T>A)
c.993+2932T>A (n.993+2932T>A)
c.782+3578T>A (n.782+3578T>A)
c.*207+6T>A (n.*207+6T>A)
c.*119+6T>A (n.*119+6T>A)
c.54-913T>A
c.983+6T>A (n.983+6T>A)
c.1067+6T>A (n.1067+6T>A)
c.623+6T>A (n.623+6T>A)
dbSNP
17g.7670604C>ACA287485711TP53c.1100+5G>T (n.1100+5G>T)
c.704+5G>T (n.704+5G>T)
c.821+5G>T (n.821+5G>T)
c.1079+5G>T (n.1079+5G>T)
c.993+2931G>T (n.993+2931G>T)
c.782+3577G>T (n.782+3577G>T)
c.*207+5G>T (n.*207+5G>T)
c.*119+5G>T (n.*119+5G>T)
c.54-914G>T
c.983+5G>T (n.983+5G>T)
c.1067+5G>T (n.1067+5G>T)
c.623+5G>T (n.623+5G>T)
dbSNP
17g.7670604C=CA2245942256TP53c.1100+5G= (n.1100+5G=)
c.704+5G= (n.704+5G=)
c.821+5G= (n.821+5G=)
c.1079+5G= (n.1079+5G=)
c.993+2931G= (n.993+2931G=)
c.782+3577G= (n.782+3577G=)
c.*207+5G= (n.*207+5G=)
c.*119+5G= (n.*119+5G=)
c.54-914G=
c.983+5G= (n.983+5G=)
c.1067+5G= (n.1067+5G=)
c.623+5G= (n.623+5G=)
17g.7670604C>GCA2573154612TP53c.1100+5G>C (n.1100+5G>C)
c.704+5G>C (n.704+5G>C)
c.821+5G>C (n.821+5G>C)
c.1079+5G>C (n.1079+5G>C)
c.993+2931G>C (n.993+2931G>C)
c.782+3577G>C (n.782+3577G>C)
c.*207+5G>C (n.*207+5G>C)
c.*119+5G>C (n.*119+5G>C)
c.54-914G>C
c.983+5G>C (n.983+5G>C)
c.1067+5G>C (n.1067+5G>C)
c.623+5G>C (n.623+5G>C)
ClinVar dbSNP
17g.7670604C>TCA915949511TP53c.1100+5G>A (n.1100+5G>A)
c.704+5G>A (n.704+5G>A)
c.821+5G>A (n.821+5G>A)
c.1079+5G>A (n.1079+5G>A)
c.993+2931G>A (n.993+2931G>A)
c.782+3577G>A (n.782+3577G>A)
c.*207+5G>A (n.*207+5G>A)
c.*119+5G>A (n.*119+5G>A)
c.54-914G>A
c.983+5G>A (n.983+5G>A)
c.1067+5G>A (n.1067+5G>A)
c.623+5G>A (n.623+5G>A)
ClinVar dbSNP
17g.7670604_7670605delinsCTCA2245942257TP53c.1100+4_1100+5delinsAG (n.1100+4_1100+5delinsAG)
c.704+4_704+5delinsAG (n.704+4_704+5delinsAG)
c.821+4_821+5delinsAG (n.821+4_821+5delinsAG)
c.1079+4_1079+5delinsAG (n.1079+4_1079+5delinsAG)
c.993+2930_993+2931delinsAG (n.993+2930_993+2931delinsAG)
c.782+3576_782+3577delinsAG (n.782+3576_782+3577delinsAG)
c.*207+4_*207+5delinsAG (n.*207+4_*207+5delinsAG)
c.*119+4_*119+5delinsAG (n.*119+4_*119+5delinsAG)
c.54-915_54-914delinsAG
c.983+4_983+5delinsAG (n.983+4_983+5delinsAG)
c.1067+4_1067+5delinsAG (n.1067+4_1067+5delinsAG)
c.623+4_623+5delinsAG (n.623+4_623+5delinsAG)
17g.7670605delCA16620608TP53c.1100+4del (n.1100+4del)
c.704+4del (n.704+4del)
c.821+4del (n.821+4del)
c.1079+4del (n.1079+4del)
c.993+2930del (n.993+2930del)
c.782+3576del (n.782+3576del)
c.*207+4del (n.*207+4del)
c.*119+4del (n.*119+4del)
c.54-915del
c.983+4del (n.983+4del)
c.1067+4del (n.1067+4del)
c.623+4del (n.623+4del)
ClinVar dbSNP
17g.7670605T>ACA2576230504TP53c.1100+4A>T (n.1100+4A>T)
c.704+4A>T (n.704+4A>T)
c.821+4A>T (n.821+4A>T)
c.1079+4A>T (n.1079+4A>T)
c.993+2930A>T (n.993+2930A>T)
c.782+3576A>T (n.782+3576A>T)
c.*207+4A>T (n.*207+4A>T)
c.*119+4A>T (n.*119+4A>T)
c.54-915A>T
c.983+4A>T (n.983+4A>T)
c.1067+4A>T (n.1067+4A>T)
c.623+4A>T (n.623+4A>T)
ClinVar dbSNP
17g.7670605T>CCA2733131695TP53c.1100+4A>G (n.1100+4A>G)
c.704+4A>G (n.704+4A>G)
c.821+4A>G (n.821+4A>G)
c.1079+4A>G (n.1079+4A>G)
c.993+2930A>G (n.993+2930A>G)
c.782+3576A>G (n.782+3576A>G)
c.*207+4A>G (n.*207+4A>G)
c.*119+4A>G (n.*119+4A>G)
c.54-915A>G
c.983+4A>G (n.983+4A>G)
c.1067+4A>G (n.1067+4A>G)
c.623+4A>G (n.623+4A>G)
dbSNP
17g.7670606C=CA2245942268TP53c.1100+3G= (n.1100+3G=)
c.704+3G= (n.704+3G=)
c.821+3G= (n.821+3G=)
c.1079+3G= (n.1079+3G=)
c.993+2929G= (n.993+2929G=)
c.782+3575G= (n.782+3575G=)
c.*207+3G= (n.*207+3G=)
c.*119+3G= (n.*119+3G=)
c.54-916G=
c.983+3G= (n.983+3G=)
c.1067+3G= (n.1067+3G=)
c.623+3G= (n.623+3G=)
17g.7670606C>GCA16607517TP53c.1100+3G>C (n.1100+3G>C)
c.704+3G>C (n.704+3G>C)
c.821+3G>C (n.821+3G>C)
c.1079+3G>C (n.1079+3G>C)
c.993+2929G>C (n.993+2929G>C)
c.782+3575G>C (n.782+3575G>C)
c.*207+3G>C (n.*207+3G>C)
c.*119+3G>C (n.*119+3G>C)
c.54-916G>C
c.983+3G>C (n.983+3G>C)
c.1067+3G>C (n.1067+3G>C)
c.623+3G>C (n.623+3G>C)
ClinVar dbSNP
17g.7670606C>TCA2245942269TP53c.1100+3G>A (n.1100+3G>A)
c.704+3G>A (n.704+3G>A)
c.821+3G>A (n.821+3G>A)
c.1079+3G>A (n.1079+3G>A)
c.993+2929G>A (n.993+2929G>A)
c.782+3575G>A (n.782+3575G>A)
c.*207+3G>A (n.*207+3G>A)
c.*119+3G>A (n.*119+3G>A)
c.54-916G>A
c.983+3G>A (n.983+3G>A)
c.1067+3G>A (n.1067+3G>A)
c.623+3G>A (n.623+3G>A)
ClinVar dbSNP gnomAD v4
17g.7670607A>CCA397831692TP53c.1100+2T>G (n.1100+2T>G)
c.704+2T>G (n.704+2T>G)
c.821+2T>G (n.821+2T>G)
c.1079+2T>G (n.1079+2T>G)
c.993+2928T>G (n.993+2928T>G)
c.782+3574T>G (n.782+3574T>G)
c.*207+2T>G (n.*207+2T>G)
c.*119+2T>G (n.*119+2T>G)
c.54-917T>G
c.983+2T>G (n.983+2T>G)
c.1067+2T>G (n.1067+2T>G)
c.623+2T>G (n.623+2T>G)
dbSNP
17g.7670607A>GCA397831702TP53c.1100+2T>C (n.1100+2T>C)
c.704+2T>C (n.704+2T>C)
c.821+2T>C (n.821+2T>C)
c.1079+2T>C (n.1079+2T>C)
c.993+2928T>C (n.993+2928T>C)
c.782+3574T>C (n.782+3574T>C)
c.*207+2T>C (n.*207+2T>C)
c.*119+2T>C (n.*119+2T>C)
c.54-917T>C
c.983+2T>C (n.983+2T>C)
c.1067+2T>C (n.1067+2T>C)
c.623+2T>C (n.623+2T>C)
ClinVar
17g.7670607A>TCA397831706TP53c.1100+2T>A (n.1100+2T>A)
c.704+2T>A (n.704+2T>A)
c.821+2T>A (n.821+2T>A)
c.1079+2T>A (n.1079+2T>A)
c.993+2928T>A (n.993+2928T>A)
c.782+3574T>A (n.782+3574T>A)
c.*207+2T>A (n.*207+2T>A)
c.*119+2T>A (n.*119+2T>A)
c.54-917T>A
c.983+2T>A (n.983+2T>A)
c.1067+2T>A (n.1067+2T>A)
c.623+2T>A (n.623+2T>A)
ClinVar dbSNP
17g.7670608C>ACA397831713TP53c.1100+1G>T (n.1100+1G>T)
c.704+1G>T (n.704+1G>T)
c.821+1G>T (n.821+1G>T)
c.1079+1G>T (n.1079+1G>T)
c.993+2927G>T (n.993+2927G>T)
c.782+3573G>T (n.782+3573G>T)
c.*207+1G>T (n.*207+1G>T)
c.*119+1G>T (n.*119+1G>T)
c.54-918G>T
c.983+1G>T (n.983+1G>T)
c.1067+1G>T (n.1067+1G>T)
c.623+1G>T (n.623+1G>T)
ClinVar
17g.7670608C>GCA397831718TP53c.1100+1G>C (n.1100+1G>C)
c.704+1G>C (n.704+1G>C)
c.821+1G>C (n.821+1G>C)
c.1079+1G>C (n.1079+1G>C)
c.993+2927G>C (n.993+2927G>C)
c.782+3573G>C (n.782+3573G>C)
c.*207+1G>C (n.*207+1G>C)
c.*119+1G>C (n.*119+1G>C)
c.54-918G>C
c.983+1G>C (n.983+1G>C)
c.1067+1G>C (n.1067+1G>C)
c.623+1G>C (n.623+1G>C)
dbSNP
17g.7670608C>TCA397831721TP53c.1100+1G>A (n.1100+1G>A)
c.704+1G>A (n.704+1G>A)
c.821+1G>A (n.821+1G>A)
c.1079+1G>A (n.1079+1G>A)
c.993+2927G>A (n.993+2927G>A)
c.782+3573G>A (n.782+3573G>A)
c.*207+1G>A (n.*207+1G>A)
c.*119+1G>A (n.*119+1G>A)
c.54-918G>A
c.983+1G>A (n.983+1G>A)
c.1067+1G>A (n.1067+1G>A)
c.623+1G>A (n.623+1G>A)
dbSNP COSMIC
17g.7670609C>ACA397831726TP53c.1100G>T (p.Ser367Ile)
c.704G>T (p.Ser235Ile)
c.821G>T (p.Ser274Ile)
c.1079G>T (p.Ser360Ile)
c.993+2926G>T (n.993+2926G>T)
c.782+3572G>T (n.782+3572G>T)
c.*207G>T (n.*207G>T)
c.*119G>T (n.*119G>T)
c.54-919G>T
c.983G>T (p.Ser328Ile)
c.1067G>T (p.Ser356Ile)
c.623G>T (p.Ser208Ile)
c.983G>T (p.Arg328Met)
dbSNP gnomAD v4
17g.7670609C=CA2245942274TP53c.1100G= (p.Ser367=)
c.704G= (p.Ser235=)
c.821G= (p.Ser274=)
c.1079G= (p.Ser360=)
c.993+2926G= (n.993+2926G=)
c.782+3572G= (n.782+3572G=)
c.*207G= (n.*207G=)
c.*119G= (n.*119G=)
c.54-919G=
c.983G= (p.Ser328=)
c.1067G= (p.Ser356=)
c.623G= (p.Ser208=)
c.983G= (p.Arg328=)
17g.7670609C>GCA397831738TP53c.1100G>C (p.Ser367Thr)
c.704G>C (p.Ser235Thr)
c.821G>C (p.Ser274Thr)
c.1079G>C (p.Ser360Thr)
c.993+2926G>C (n.993+2926G>C)
c.782+3572G>C (n.782+3572G>C)
c.*207G>C (n.*207G>C)
c.*119G>C (n.*119G>C)
c.54-919G>C
c.983G>C (p.Ser328Thr)
c.1067G>C (p.Ser356Thr)
c.623G>C (p.Ser208Thr)
c.983G>C (p.Arg328Thr)
ClinVar dbSNP
17g.7670609C>TCA000747TP53c.1100G>A (p.Ser367Asn)
c.704G>A (p.Ser235Asn)
c.821G>A (p.Ser274Asn)
c.1079G>A (p.Ser360Asn)
c.993+2926G>A (n.993+2926G>A)
c.782+3572G>A (n.782+3572G>A)
c.*207G>A (n.*207G>A)
c.*119G>A (n.*119G>A)
c.54-919G>A
c.983G>A (p.Ser328Asn)
c.1067G>A (p.Ser356Asn)
c.623G>A (p.Ser208Asn)
c.983G>A (p.Arg328Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.7670609_7670612delCA645587289TP53c.1097_1100del (p.Ser367ThrfsTer2)
c.701_704del (p.Ser235ThrfsTer2)
c.818_821del (p.Ser274ThrfsTer2)
c.1076_1079del (p.Ser360ThrfsTer2)
c.993+2923_993+2926del (n.993+2923_993+2926del)
c.782+3569_782+3572del (n.782+3569_782+3572del)
c.*204_*207del (n.*204_*207del)
c.*116_*119del (n.*116_*119del)
c.54-922_54-919del
c.980_983del (p.Ser328ThrfsTer2)
c.1064_1067del (p.Ser356ThrfsTer2)
c.620_623del (p.Ser208ThrfsTer2)
c.980_983del (p.Ser327TrpfsTer21)
COSMIC
17g.7670610delCA497712407TP53c.1099del (p.Ser367AlafsTer3)
c.703del (p.Ser235AlafsTer3)
c.820del (p.Ser274AlafsTer3)
c.1078del (p.Ser360AlafsTer3)
c.993+2925del (n.993+2925del)
c.782+3571del (n.782+3571del)
c.*206del (n.*206del)
c.*118del (n.*118del)
c.54-920del
c.982del (p.Ser328AlafsTer3)
c.1066del (p.Ser356AlafsTer3)
c.622del (p.Ser208AlafsTer3)
c.982del (p.Arg328GlyfsTer21)
COSMIC
17g.7670610T>ACA397831743TP53c.1099A>T (p.Ser367Cys)
c.703A>T (p.Ser235Cys)
c.820A>T (p.Ser274Cys)
c.1078A>T (p.Ser360Cys)
c.993+2925A>T (n.993+2925A>T)
c.782+3571A>T (n.782+3571A>T)
c.*206A>T (n.*206A>T)
c.*118A>T (n.*118A>T)
c.54-920A>T
c.982A>T (p.Ser328Cys)
c.1066A>T (p.Ser356Cys)
c.622A>T (p.Ser208Cys)
c.982A>T (p.Arg328Trp)
17g.7670610T>CCA10580903TP53c.1099A>G (p.Ser367Gly)
c.703A>G (p.Ser235Gly)
c.820A>G (p.Ser274Gly)
c.1078A>G (p.Ser360Gly)
c.993+2925A>G (n.993+2925A>G)
c.782+3571A>G (n.782+3571A>G)
c.*206A>G (n.*206A>G)
c.*118A>G (n.*118A>G)
c.54-920A>G
c.982A>G (p.Ser328Gly)
c.1066A>G (p.Ser356Gly)
c.622A>G (p.Ser208Gly)
c.982A>G (p.Arg328Gly)
ClinVar dbSNP
17g.7670610T>GCA397831746TP53c.1099A>C (p.Ser367Arg)
c.703A>C (p.Ser235Arg)
c.820A>C (p.Ser274Arg)
c.1078A>C (p.Ser360Arg)
c.993+2925A>C (n.993+2925A>C)
c.782+3571A>C (n.782+3571A>C)
c.*206A>C (n.*206A>C)
c.*118A>C (n.*118A>C)
c.54-920A>C
c.982A>C (p.Ser328Arg)
c.1066A>C (p.Ser356Arg)
c.622A>C (p.Ser208Arg)
c.982A>C (p.Arg328=)
17g.7670610T=CA2245942278TP53c.1099A= (p.Ser367=)
c.703A= (p.Ser235=)
c.820A= (p.Ser274=)
c.1078A= (p.Ser360=)
c.993+2925A= (n.993+2925A=)
c.782+3571A= (n.782+3571A=)
c.*206A= (n.*206A=)
c.*118A= (n.*118A=)
c.54-920A=
c.982A= (p.Ser328=)
c.1066A= (p.Ser356=)
c.622A= (p.Ser208=)
c.982A= (p.Arg328=)
17g.7670611G>ACA497712411TP53c.1098C>T (p.Ser366=)
c.702C>T (p.Ser234=)
c.819C>T (p.Ser273=)
c.1077C>T (p.Ser359=)
c.993+2924C>T (n.993+2924C>T)
c.782+3570C>T (n.782+3570C>T)
c.*205C>T (n.*205C>T)
c.*117C>T (n.*117C>T)
c.54-921C>T
c.981C>T (p.Ser327=)
c.1065C>T (p.Ser355=)
c.621C>T (p.Ser207=)
dbSNP
17g.7670611G>CCA497712414TP53c.1098C>G (p.Ser366=)
c.702C>G (p.Ser234=)
c.819C>G (p.Ser273=)
c.1077C>G (p.Ser359=)
c.993+2924C>G (n.993+2924C>G)
c.782+3570C>G (n.782+3570C>G)
c.*205C>G (n.*205C>G)
c.*117C>G (n.*117C>G)
c.54-921C>G
c.981C>G (p.Ser327=)
c.1065C>G (p.Ser355=)
c.621C>G (p.Ser207=)
dbSNP
17g.7670611G>TCA497712416TP53c.1098C>A (p.Ser366=)
c.702C>A (p.Ser234=)
c.819C>A (p.Ser273=)
c.1077C>A (p.Ser359=)
c.993+2924C>A (n.993+2924C>A)
c.782+3570C>A (n.782+3570C>A)
c.*205C>A (n.*205C>A)
c.*117C>A (n.*117C>A)
c.54-921C>A
c.981C>A (p.Ser327=)
c.1065C>A (p.Ser355=)
c.621C>A (p.Ser207=)
17g.7670612G>ACA397831752TP53c.1097C>T (p.Ser366Phe)
c.701C>T (p.Ser234Phe)
c.818C>T (p.Ser273Phe)
c.1076C>T (p.Ser359Phe)
c.993+2923C>T (n.993+2923C>T)
c.782+3569C>T (n.782+3569C>T)
c.*204C>T (n.*204C>T)
c.*116C>T (n.*116C>T)
c.54-922C>T
c.980C>T (p.Ser327Phe)
c.1064C>T (p.Ser355Phe)
c.620C>T (p.Ser207Phe)
ClinVar
17g.7670612G>CCA397831748TP53c.1097C>G (p.Ser366Cys)
c.701C>G (p.Ser234Cys)
c.818C>G (p.Ser273Cys)
c.1076C>G (p.Ser359Cys)
c.993+2923C>G (n.993+2923C>G)
c.782+3569C>G (n.782+3569C>G)
c.*204C>G (n.*204C>G)
c.*116C>G (n.*116C>G)
c.54-922C>G
c.980C>G (p.Ser327Cys)
c.1064C>G (p.Ser355Cys)
c.620C>G (p.Ser207Cys)
ClinVar dbSNP gnomAD v4
17g.7670612G=CA2245942279TP53c.1097C= (p.Ser366=)
c.701C= (p.Ser234=)
c.818C= (p.Ser273=)
c.1076C= (p.Ser359=)
c.993+2923C= (n.993+2923C=)
c.782+3569C= (n.782+3569C=)
c.*204C= (n.*204C=)
c.*116C= (n.*116C=)
c.54-922C=
c.980C= (p.Ser327=)
c.1064C= (p.Ser355=)
c.620C= (p.Ser207=)
17g.7670612G>TCA397831749TP53c.1097C>A (p.Ser366Tyr)
c.701C>A (p.Ser234Tyr)
c.818C>A (p.Ser273Tyr)
c.1076C>A (p.Ser359Tyr)
c.993+2923C>A (n.993+2923C>A)
c.782+3569C>A (n.782+3569C>A)
c.*204C>A (n.*204C>A)
c.*116C>A (n.*116C>A)
c.54-922C>A
c.980C>A (p.Ser327Tyr)
c.1064C>A (p.Ser355Tyr)
c.620C>A (p.Ser207Tyr)
ClinVar
17g.7670613A=CA2245942287TP53c.1096T= (p.Ser366=)
c.700T= (p.Ser234=)
c.817T= (p.Ser273=)
c.1075T= (p.Ser359=)
c.993+2922T= (n.993+2922T=)
c.782+3568T= (n.782+3568T=)
c.*203T= (n.*203T=)
c.*115T= (n.*115T=)
c.54-923T=
c.979T= (p.Ser327=)
c.1063T= (p.Ser355=)
c.619T= (p.Ser207=)
17g.7670613A>CCA000036TP53c.1096T>G (p.Ser366Ala)
c.700T>G (p.Ser234Ala)
c.817T>G (p.Ser273Ala)
c.1075T>G (p.Ser359Ala)
c.993+2922T>G (n.993+2922T>G)
c.782+3568T>G (n.782+3568T>G)
c.*203T>G (n.*203T>G)
c.*115T>G (n.*115T>G)
c.54-923T>G
c.979T>G (p.Ser327Ala)
c.1063T>G (p.Ser355Ala)
c.619T>G (p.Ser207Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.7670613A>GCA397831755TP53c.1096T>C (p.Ser366Pro)
c.700T>C (p.Ser234Pro)
c.817T>C (p.Ser273Pro)
c.1075T>C (p.Ser359Pro)
c.993+2922T>C (n.993+2922T>C)
c.782+3568T>C (n.782+3568T>C)
c.*203T>C (n.*203T>C)
c.*115T>C (n.*115T>C)
c.54-923T>C
c.979T>C (p.Ser327Pro)
c.1063T>C (p.Ser355Pro)
c.619T>C (p.Ser207Pro)
ClinVar dbSNP
17g.7670613A>TCA397831757TP53c.1096T>A (p.Ser366Thr)
c.700T>A (p.Ser234Thr)
c.817T>A (p.Ser273Thr)
c.1075T>A (p.Ser359Thr)
c.993+2922T>A (n.993+2922T>A)
c.782+3568T>A (n.782+3568T>A)
c.*203T>A (n.*203T>A)
c.*115T>A (n.*115T>A)
c.54-923T>A
c.979T>A (p.Ser327Thr)
c.1063T>A (p.Ser355Thr)
c.619T>A (p.Ser207Thr)
ClinVar dbSNP
17g.7670614G>ACA497712428TP53c.1095C>T (p.His365=)
c.699C>T (p.His233=)
c.816C>T (p.His272=)
c.1074C>T (p.His358=)
c.993+2921C>T (n.993+2921C>T)
c.782+3567C>T (n.782+3567C>T)
c.*202C>T (n.*202C>T)
c.*114C>T (n.*114C>T)
c.54-924C>T
c.978C>T (p.His326=)
c.1062C>T (p.His354=)
c.618C>T (p.His206=)
ClinVar dbSNP
17g.7670614G>CCA397831759TP53c.1095C>G (p.His365Gln)
c.699C>G (p.His233Gln)
c.816C>G (p.His272Gln)
c.1074C>G (p.His358Gln)
c.993+2921C>G (n.993+2921C>G)
c.782+3567C>G (n.782+3567C>G)
c.*202C>G (n.*202C>G)
c.*114C>G (n.*114C>G)
c.54-924C>G
c.978C>G (p.His326Gln)
c.1062C>G (p.His354Gln)
c.618C>G (p.His206Gln)
dbSNP
17g.7670614G>TCA397831760TP53c.1095C>A (p.His365Gln)
c.699C>A (p.His233Gln)
c.816C>A (p.His272Gln)
c.1074C>A (p.His358Gln)
c.993+2921C>A (n.993+2921C>A)
c.782+3567C>A (n.782+3567C>A)
c.*202C>A (n.*202C>A)
c.*114C>A (n.*114C>A)
c.54-924C>A
c.978C>A (p.His326Gln)
c.1062C>A (p.His354Gln)
c.618C>A (p.His206Gln)
17g.7670615T>ACA397831784TP53c.1094A>T (p.His365Leu)
c.698A>T (p.His233Leu)
c.815A>T (p.His272Leu)
c.1073A>T (p.His358Leu)
c.993+2920A>T (n.993+2920A>T)
c.782+3566A>T (n.782+3566A>T)
c.*201A>T (n.*201A>T)
c.*113A>T (n.*113A>T)
c.54-925A>T
c.977A>T (p.His326Leu)
c.1061A>T (p.His354Leu)
c.617A>T (p.His206Leu)
dbSNP
17g.7670615T>CCA397831785TP53c.1094A>G (p.His365Arg)
c.698A>G (p.His233Arg)
c.815A>G (p.His272Arg)
c.1073A>G (p.His358Arg)
c.993+2920A>G (n.993+2920A>G)
c.782+3566A>G (n.782+3566A>G)
c.*201A>G (n.*201A>G)
c.*113A>G (n.*113A>G)
c.54-925A>G
c.977A>G (p.His326Arg)
c.1061A>G (p.His354Arg)
c.617A>G (p.His206Arg)
17g.7670615T>GCA397831787TP53c.1094A>C (p.His365Pro)
c.698A>C (p.His233Pro)
c.815A>C (p.His272Pro)
c.1073A>C (p.His358Pro)
c.993+2920A>C (n.993+2920A>C)
c.782+3566A>C (n.782+3566A>C)
c.*201A>C (n.*201A>C)
c.*113A>C (n.*113A>C)
c.54-925A>C
c.977A>C (p.His326Pro)
c.1061A>C (p.His354Pro)
c.617A>C (p.His206Pro)
ClinVar
17g.7670616_7670715delCA645587290TP53c.995_1094del (p.Ile332ThrfsTer5)
c.599_698del (p.Ile200ThrfsTer5)
c.716_815del (p.Ile239ThrfsTer5)
c.974_1073del (p.Ile325ThrfsTer5)
c.993+2821_993+2920del (n.993+2821_993+2920del)
c.782+3467_782+3566del (n.782+3467_782+3566del)
c.*102_*201del (n.*102_*201del)
c.*14_*113del (n.*14_*113del)
c.54-1024_54-925del
c.878_977del (p.Ile293ThrfsTer5)
c.962_1061del (p.Ile321ThrfsTer5)
c.518_617del (p.Ile173ThrfsTer5)
c.878_977del (p.Ile293ThrfsTer23)
COSMIC
17g.7670616G>ACA000035TP53c.1093C>T (p.His365Tyr)
c.697C>T (p.His233Tyr)
c.814C>T (p.His272Tyr)
c.1072C>T (p.His358Tyr)
c.993+2919C>T (n.993+2919C>T)
c.782+3565C>T (n.782+3565C>T)
c.*200C>T (n.*200C>T)
c.*112C>T (n.*112C>T)
c.54-926C>T
c.976C>T (p.His326Tyr)
c.1060C>T (p.His354Tyr)
c.616C>T (p.His206Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.7670616G>CCA397831798TP53c.1093C>G (p.His365Asp)
c.697C>G (p.His233Asp)
c.814C>G (p.His272Asp)
c.1072C>G (p.His358Asp)
c.993+2919C>G (n.993+2919C>G)
c.782+3565C>G (n.782+3565C>G)
c.*200C>G (n.*200C>G)
c.*112C>G (n.*112C>G)
c.54-926C>G
c.976C>G (p.His326Asp)
c.1060C>G (p.His354Asp)
c.616C>G (p.His206Asp)
dbSNP
17g.7670616G=CA2245942297TP53c.1093C= (p.His365=)
c.697C= (p.His233=)
c.814C= (p.His272=)
c.1072C= (p.His358=)
c.993+2919C= (n.993+2919C=)
c.782+3565C= (n.782+3565C=)
c.*200C= (n.*200C=)
c.*112C= (n.*112C=)
c.54-926C=
c.976C= (p.His326=)
c.1060C= (p.His354=)
c.616C= (p.His206=)
17g.7670616G>TCA397831804TP53c.1093C>A (p.His365Asn)
c.697C>A (p.His233Asn)
c.814C>A (p.His272Asn)
c.1072C>A (p.His358Asn)
c.993+2919C>A (n.993+2919C>A)
c.782+3565C>A (n.782+3565C>A)
c.*200C>A (n.*200C>A)
c.*112C>A (n.*112C>A)
c.54-926C>A
c.976C>A (p.His326Asn)
c.1060C>A (p.His354Asn)
c.616C>A (p.His206Asn)
17g.7670617A>CCA497712442TP53c.1092T>G (p.Ala364=)
c.696T>G (p.Ala232=)
c.813T>G (p.Ala271=)
c.1071T>G (p.Ala357=)
c.993+2918T>G (n.993+2918T>G)
c.782+3564T>G (n.782+3564T>G)
c.*199T>G (n.*199T>G)
c.*111T>G (n.*111T>G)
c.54-927T>G
c.975T>G (p.Ala325=)
c.1059T>G (p.Ala353=)
c.615T>G (p.Ala205=)
17g.7670617A>GCA497712438TP53c.1092T>C (p.Ala364=)
c.696T>C (p.Ala232=)
c.813T>C (p.Ala271=)
c.1071T>C (p.Ala357=)
c.993+2918T>C (n.993+2918T>C)
c.782+3564T>C (n.782+3564T>C)
c.*199T>C (n.*199T>C)
c.*111T>C (n.*111T>C)
c.54-927T>C
c.975T>C (p.Ala325=)
c.1059T>C (p.Ala353=)
c.615T>C (p.Ala205=)
COSMIC COSMIC
17g.7670617A>TCA497712437TP53c.1092T>A (p.Ala364=)
c.696T>A (p.Ala232=)
c.813T>A (p.Ala271=)
c.1071T>A (p.Ala357=)
c.993+2918T>A (n.993+2918T>A)
c.782+3564T>A (n.782+3564T>A)
c.*199T>A (n.*199T>A)
c.*111T>A (n.*111T>A)
c.54-927T>A
c.975T>A (p.Ala325=)
c.1059T>A (p.Ala353=)
c.615T>A (p.Ala205=)
dbSNP
17g.7670618G>ACA397831830TP53c.1091C>T (p.Ala364Val)
c.695C>T (p.Ala232Val)
c.812C>T (p.Ala271Val)
c.1070C>T (p.Ala357Val)
c.993+2917C>T (n.993+2917C>T)
c.782+3563C>T (n.782+3563C>T)
c.*198C>T (n.*198C>T)
c.*110C>T (n.*110C>T)
c.54-928C>T
c.974C>T (p.Ala325Val)
c.1058C>T (p.Ala353Val)
c.614C>T (p.Ala205Val)
ClinVar dbSNP gnomAD v4
17g.7670618G>CCA397831811TP53c.1091C>G (p.Ala364Gly)
c.695C>G (p.Ala232Gly)
c.812C>G (p.Ala271Gly)
c.1070C>G (p.Ala357Gly)
c.993+2917C>G (n.993+2917C>G)
c.782+3563C>G (n.782+3563C>G)
c.*198C>G (n.*198C>G)
c.*110C>G (n.*110C>G)
c.54-928C>G
c.974C>G (p.Ala325Gly)
c.1058C>G (p.Ala353Gly)
c.614C>G (p.Ala205Gly)
dbSNP
17g.7670618G=CA2245942304TP53c.1091C= (p.Ala364=)
c.695C= (p.Ala232=)
c.812C= (p.Ala271=)
c.1070C= (p.Ala357=)
c.993+2917C= (n.993+2917C=)
c.782+3563C= (n.782+3563C=)
c.*198C= (n.*198C=)
c.*110C= (n.*110C=)
c.54-928C=
c.974C= (p.Ala325=)
c.1058C= (p.Ala353=)
c.614C= (p.Ala205=)
17g.7670618G>TCA397831807TP53c.1091C>A (p.Ala364Asp)
c.695C>A (p.Ala232Asp)
c.812C>A (p.Ala271Asp)
c.1070C>A (p.Ala357Asp)
c.993+2917C>A (n.993+2917C>A)
c.782+3563C>A (n.782+3563C>A)
c.*198C>A (n.*198C>A)
c.*110C>A (n.*110C>A)
c.54-928C>A
c.974C>A (p.Ala325Asp)
c.1058C>A (p.Ala353Asp)
c.614C>A (p.Ala205Asp)
17g.7670619C>ACA397831837TP53c.1090G>T (p.Ala364Ser)
c.694G>T (p.Ala232Ser)
c.811G>T (p.Ala271Ser)
c.1069G>T (p.Ala357Ser)
c.993+2916G>T (n.993+2916G>T)
c.782+3562G>T (n.782+3562G>T)
c.*197G>T (n.*197G>T)
c.*109G>T (n.*109G>T)
c.54-929G>T
c.973G>T (p.Ala325Ser)
c.1057G>T (p.Ala353Ser)
c.613G>T (p.Ala205Ser)
ClinVar dbSNP
17g.7670619C=CA2245942313TP53c.1090G= (p.Ala364=)
c.694G= (p.Ala232=)
c.811G= (p.Ala271=)
c.1069G= (p.Ala357=)
c.993+2916G= (n.993+2916G=)
c.782+3562G= (n.782+3562G=)
c.*197G= (n.*197G=)
c.*109G= (n.*109G=)
c.54-929G=
c.973G= (p.Ala325=)
c.1057G= (p.Ala353=)
c.613G= (p.Ala205=)
17g.7670619C>GCA397831838TP53c.1090G>C (p.Ala364Pro)
c.694G>C (p.Ala232Pro)
c.811G>C (p.Ala271Pro)
c.1069G>C (p.Ala357Pro)
c.993+2916G>C (n.993+2916G>C)
c.782+3562G>C (n.782+3562G>C)
c.*197G>C (n.*197G>C)
c.*109G>C (n.*109G>C)
c.54-929G>C
c.973G>C (p.Ala325Pro)
c.1057G>C (p.Ala353Pro)
c.613G>C (p.Ala205Pro)
dbSNP
17g.7670619C>TCA397831839TP53c.1090G>A (p.Ala364Thr)
c.694G>A (p.Ala232Thr)
c.811G>A (p.Ala271Thr)
c.1069G>A (p.Ala357Thr)
c.993+2916G>A (n.993+2916G>A)
c.782+3562G>A (n.782+3562G>A)
c.*197G>A (n.*197G>A)
c.*109G>A (n.*109G>A)
c.54-929G>A
c.973G>A (p.Ala325Thr)
c.1057G>A (p.Ala353Thr)
c.613G>A (p.Ala205Thr)
ClinVar dbSNP gnomAD v4 COSMIC
17g.7670620C>ACA397831840TP53c.1089G>T (p.Arg363Ser)
c.693G>T (p.Arg231Ser)
c.810G>T (p.Arg270Ser)
c.1068G>T (p.Arg356Ser)
c.993+2915G>T (n.993+2915G>T)
c.782+3561G>T (n.782+3561G>T)
c.*196G>T (n.*196G>T)
c.*108G>T (n.*108G>T)
c.54-930G>T
c.972G>T (p.Arg324Ser)
c.1056G>T (p.Arg352Ser)
c.612G>T (p.Arg204Ser)
ClinVar dbSNP
17g.7670620C=CA2245942321TP53c.1089G= (p.Arg363=)
c.693G= (p.Arg231=)
c.810G= (p.Arg270=)
c.1068G= (p.Arg356=)
c.993+2915G= (n.993+2915G=)
c.782+3561G= (n.782+3561G=)
c.*196G= (n.*196G=)
c.*108G= (n.*108G=)
c.54-930G=
c.972G= (p.Arg324=)
c.1056G= (p.Arg352=)
c.612G= (p.Arg204=)
17g.7670620C>GCA397831841TP53c.1089G>C (p.Arg363Ser)
c.693G>C (p.Arg231Ser)
c.810G>C (p.Arg270Ser)
c.1068G>C (p.Arg356Ser)
c.993+2915G>C (n.993+2915G>C)
c.782+3561G>C (n.782+3561G>C)
c.*196G>C (n.*196G>C)
c.*108G>C (n.*108G>C)
c.54-930G>C
c.972G>C (p.Arg324Ser)
c.1056G>C (p.Arg352Ser)
c.612G>C (p.Arg204Ser)
dbSNP
17g.7670620C>TCA497712468TP53c.1089G>A (p.Arg363=)
c.693G>A (p.Arg231=)
c.810G>A (p.Arg270=)
c.1068G>A (p.Arg356=)
c.993+2915G>A (n.993+2915G>A)
c.782+3561G>A (n.782+3561G>A)
c.*196G>A (n.*196G>A)
c.*108G>A (n.*108G>A)
c.54-930G>A
c.972G>A (p.Arg324=)
c.1056G>A (p.Arg352=)
c.612G>A (p.Arg204=)
ClinVar dbSNP
17g.7670621C>ACA397831842TP53c.1088G>T (p.Arg363Met)
c.692G>T (p.Arg231Met)
c.809G>T (p.Arg270Met)
c.1067G>T (p.Arg356Met)
c.993+2914G>T (n.993+2914G>T)
c.782+3560G>T (n.782+3560G>T)
c.*195G>T (n.*195G>T)
c.*107G>T (n.*107G>T)
c.54-931G>T
c.971G>T (p.Arg324Met)
c.1055G>T (p.Arg352Met)
c.611G>T (p.Arg204Met)
17g.7670621C=CA2245942327TP53c.1088G= (p.Arg363=)
c.692G= (p.Arg231=)
c.809G= (p.Arg270=)
c.1067G= (p.Arg356=)
c.993+2914G= (n.993+2914G=)
c.782+3560G= (n.782+3560G=)
c.*195G= (n.*195G=)
c.*107G= (n.*107G=)
c.54-931G=
c.971G= (p.Arg324=)
c.1055G= (p.Arg352=)
c.611G= (p.Arg204=)
17g.7670621C>GCA397831843TP53c.1088G>C (p.Arg363Thr)
c.692G>C (p.Arg231Thr)
c.809G>C (p.Arg270Thr)
c.1067G>C (p.Arg356Thr)
c.993+2914G>C (n.993+2914G>C)
c.782+3560G>C (n.782+3560G>C)
c.*195G>C (n.*195G>C)
c.*107G>C (n.*107G>C)
c.54-931G>C
c.971G>C (p.Arg324Thr)
c.1055G>C (p.Arg352Thr)
c.611G>C (p.Arg204Thr)
17g.7670621C>TCA10580904TP53c.1088G>A (p.Arg363Lys)
c.692G>A (p.Arg231Lys)
c.809G>A (p.Arg270Lys)
c.1067G>A (p.Arg356Lys)
c.993+2914G>A (n.993+2914G>A)
c.782+3560G>A (n.782+3560G>A)
c.*195G>A (n.*195G>A)
c.*107G>A (n.*107G>A)
c.54-931G>A
c.971G>A (p.Arg324Lys)
c.1055G>A (p.Arg352Lys)
c.611G>A (p.Arg204Lys)
ClinVar dbSNP gnomAD v4
17g.7670622T>ACA397831848TP53c.1087A>T (p.Arg363Trp)
c.691A>T (p.Arg231Trp)
c.808A>T (p.Arg270Trp)
c.1066A>T (p.Arg356Trp)
c.993+2913A>T (n.993+2913A>T)
c.782+3559A>T (n.782+3559A>T)
c.*194A>T (n.*194A>T)
c.*106A>T (n.*106A>T)
c.54-932A>T
c.970A>T (p.Arg324Trp)
c.1054A>T (p.Arg352Trp)
c.610A>T (p.Arg204Trp)
17g.7670622T>CCA000033TP53c.1087A>G (p.Arg363Gly)
c.691A>G (p.Arg231Gly)
c.808A>G (p.Arg270Gly)
c.1066A>G (p.Arg356Gly)
c.993+2913A>G (n.993+2913A>G)
c.782+3559A>G (n.782+3559A>G)
c.*194A>G (n.*194A>G)
c.*106A>G (n.*106A>G)
c.54-932A>G
c.970A>G (p.Arg324Gly)
c.1054A>G (p.Arg352Gly)
c.610A>G (p.Arg204Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.7670622T>GCA497712474TP53c.1087A>C (p.Arg363=)
c.691A>C (p.Arg231=)
c.808A>C (p.Arg270=)
c.1066A>C (p.Arg356=)
c.993+2913A>C (n.993+2913A>C)
c.782+3559A>C (n.782+3559A>C)
c.*194A>C (n.*194A>C)
c.*106A>C (n.*106A>C)
c.54-932A>C
c.970A>C (p.Arg324=)
c.1054A>C (p.Arg352=)
c.610A>C (p.Arg204=)
17g.7670622T=CA2245942349TP53c.1087A= (p.Arg363=)
c.691A= (p.Arg231=)
c.808A= (p.Arg270=)
c.1066A= (p.Arg356=)
c.993+2913A= (n.993+2913A=)
c.782+3559A= (n.782+3559A=)
c.*194A= (n.*194A=)
c.*106A= (n.*106A=)
c.54-932A=
c.970A= (p.Arg324=)
c.1054A= (p.Arg352=)
c.610A= (p.Arg204=)
17g.7670623G>ACA497712479TP53c.1086C>T (p.Ser362=)
c.690C>T (p.Ser230=)
c.807C>T (p.Ser269=)
c.1065C>T (p.Ser355=)
c.993+2912C>T (n.993+2912C>T)
c.782+3558C>T (n.782+3558C>T)
c.*193C>T (n.*193C>T)
c.*105C>T (n.*105C>T)
c.54-933C>T
c.969C>T (p.Ser323=)
c.1053C>T (p.Ser351=)
c.609C>T (p.Ser203=)
dbSNP
17g.7670623G>CCA397831854TP53c.1086C>G (p.Ser362Arg)
c.690C>G (p.Ser230Arg)
c.807C>G (p.Ser269Arg)
c.1065C>G (p.Ser355Arg)
c.993+2912C>G (n.993+2912C>G)
c.782+3558C>G (n.782+3558C>G)
c.*193C>G (n.*193C>G)
c.*105C>G (n.*105C>G)
c.54-933C>G
c.969C>G (p.Ser323Arg)
c.1053C>G (p.Ser351Arg)
c.609C>G (p.Ser203Arg)
dbSNP
17g.7670623G>TCA397831855TP53c.1086C>A (p.Ser362Arg)
c.690C>A (p.Ser230Arg)
c.807C>A (p.Ser269Arg)
c.1065C>A (p.Ser355Arg)
c.993+2912C>A (n.993+2912C>A)
c.782+3558C>A (n.782+3558C>A)
c.*193C>A (n.*193C>A)
c.*105C>A (n.*105C>A)
c.54-933C>A
c.969C>A (p.Ser323Arg)
c.1053C>A (p.Ser351Arg)
c.609C>A (p.Ser203Arg)
ClinVar
17g.7670624C>ACA000768TP53c.1085G>T (p.Ser362Ile)
c.689G>T (p.Ser230Ile)
c.806G>T (p.Ser269Ile)
c.1064G>T (p.Ser355Ile)
c.993+2911G>T (n.993+2911G>T)
c.782+3557G>T (n.782+3557G>T)
c.*192G>T (n.*192G>T)
c.*104G>T (n.*104G>T)
c.54-934G>T
c.968G>T (p.Ser323Ile)
c.1052G>T (p.Ser351Ile)
c.608G>T (p.Ser203Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7670624C=CA2245942361TP53c.1085G= (p.Ser362=)
c.689G= (p.Ser230=)
c.806G= (p.Ser269=)
c.1064G= (p.Ser355=)
c.993+2911G= (n.993+2911G=)
c.782+3557G= (n.782+3557G=)
c.*192G= (n.*192G=)
c.*104G= (n.*104G=)
c.54-934G=
c.968G= (p.Ser323=)
c.1052G= (p.Ser351=)
c.608G= (p.Ser203=)
17g.7670624C>GCA397831859TP53c.1085G>C (p.Ser362Thr)
c.689G>C (p.Ser230Thr)
c.806G>C (p.Ser269Thr)
c.1064G>C (p.Ser355Thr)
c.993+2911G>C (n.993+2911G>C)
c.782+3557G>C (n.782+3557G>C)
c.*192G>C (n.*192G>C)
c.*104G>C (n.*104G>C)
c.54-934G>C
c.968G>C (p.Ser323Thr)
c.1052G>C (p.Ser351Thr)
c.608G>C (p.Ser203Thr)
17g.7670624C>TCA397831856TP53c.1085G>A (p.Ser362Asn)
c.689G>A (p.Ser230Asn)
c.806G>A (p.Ser269Asn)
c.1064G>A (p.Ser355Asn)
c.993+2911G>A (n.993+2911G>A)
c.782+3557G>A (n.782+3557G>A)
c.*192G>A (n.*192G>A)
c.*104G>A (n.*104G>A)
c.54-934G>A
c.968G>A (p.Ser323Asn)
c.1052G>A (p.Ser351Asn)
c.608G>A (p.Ser203Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.7670625delCA497712491TP53c.1084del (p.Ser362AlafsTer8)
c.688del (p.Ser230AlafsTer8)
c.805del (p.Ser269AlafsTer8)
c.1063del (p.Ser355AlafsTer8)
c.993+2910del (n.993+2910del)
c.782+3556del (n.782+3556del)
c.*191del (n.*191del)
c.*103del (n.*103del)
c.54-935del
c.967del (p.Ser323AlafsTer8)
c.1051del (p.Ser351AlafsTer8)
c.607del (p.Ser203AlafsTer8)
c.967del (p.Ser323AlafsTer26)
COSMIC
17g.7670625T>ACA397831862TP53c.1084A>T (p.Ser362Cys)
c.688A>T (p.Ser230Cys)
c.805A>T (p.Ser269Cys)
c.1063A>T (p.Ser355Cys)
c.993+2910A>T (n.993+2910A>T)
c.782+3556A>T (n.782+3556A>T)
c.*191A>T (n.*191A>T)
c.*103A>T (n.*103A>T)
c.54-935A>T
c.967A>T (p.Ser323Cys)
c.1051A>T (p.Ser351Cys)
c.607A>T (p.Ser203Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.7670625T>CCA397831868TP53c.1084A>G (p.Ser362Gly)
c.688A>G (p.Ser230Gly)
c.805A>G (p.Ser269Gly)
c.1063A>G (p.Ser355Gly)
c.993+2910A>G (n.993+2910A>G)
c.782+3556A>G (n.782+3556A>G)
c.*191A>G (n.*191A>G)
c.*103A>G (n.*103A>G)
c.54-935A>G
c.967A>G (p.Ser323Gly)
c.1051A>G (p.Ser351Gly)
c.607A>G (p.Ser203Gly)
ClinVar dbSNP
17g.7670625T>GCA397831873TP53c.1084A>C (p.Ser362Arg)
c.688A>C (p.Ser230Arg)
c.805A>C (p.Ser269Arg)
c.1063A>C (p.Ser355Arg)
c.993+2910A>C (n.993+2910A>C)
c.782+3556A>C (n.782+3556A>C)
c.*191A>C (n.*191A>C)
c.*103A>C (n.*103A>C)
c.54-935A>C
c.967A>C (p.Ser323Arg)
c.1051A>C (p.Ser351Arg)
c.607A>C (p.Ser203Arg)
17g.7670625T=CA2245942387TP53c.1084A= (p.Ser362=)
c.688A= (p.Ser230=)
c.805A= (p.Ser269=)
c.1063A= (p.Ser355=)
c.993+2910A= (n.993+2910A=)
c.782+3556A= (n.782+3556A=)
c.*191A= (n.*191A=)
c.*103A= (n.*103A=)
c.54-935A=
c.967A= (p.Ser323=)
c.1051A= (p.Ser351=)
c.607A= (p.Ser203=)
17g.7670625_7670626delinsTCCA2245942392TP53c.1083_1084delinsGA (p.Gly361=)
c.687_688delinsGA (p.Gly229=)
c.804_805delinsGA (p.Gly268=)
c.1062_1063delinsGA (p.Gly354=)
c.993+2909_993+2910delinsGA (n.993+2909_993+2910delinsGA)
c.782+3555_782+3556delinsGA (n.782+3555_782+3556delinsGA)
c.*190_*191delinsGA (n.*190_*191delinsGA)
c.*102_*103delinsGA (n.*102_*103delinsGA)
c.54-936_54-935delinsGA
c.966_967delinsGA (p.Gly322=)
c.1050_1051delinsGA (p.Gly350=)
c.606_607delinsGA (p.Gly202=)
17g.7670626C>ACA497712494TP53c.1083G>T (p.Gly361=)
c.687G>T (p.Gly229=)
c.804G>T (p.Gly268=)
c.1062G>T (p.Gly354=)
c.993+2909G>T (n.993+2909G>T)
c.782+3555G>T (n.782+3555G>T)
c.*190G>T (n.*190G>T)
c.*102G>T (n.*102G>T)
c.54-936G>T
c.966G>T (p.Gly322=)
c.1050G>T (p.Gly350=)
c.606G>T (p.Gly202=)
ClinVar gnomAD v4 COSMIC COSMIC
17g.7670626C=CA2245942407TP53c.1083G= (p.Gly361=)
c.687G= (p.Gly229=)
c.804G= (p.Gly268=)
c.1062G= (p.Gly354=)
c.993+2909G= (n.993+2909G=)
c.782+3555G= (n.782+3555G=)
c.*190G= (n.*190G=)
c.*102G= (n.*102G=)
c.54-936G=
c.966G= (p.Gly322=)
c.1050G= (p.Gly350=)
c.606G= (p.Gly202=)
17g.7670626C>GCA497712496TP53c.1083G>C (p.Gly361=)
c.687G>C (p.Gly229=)
c.804G>C (p.Gly268=)
c.1062G>C (p.Gly354=)
c.993+2909G>C (n.993+2909G>C)
c.782+3555G>C (n.782+3555G>C)
c.*190G>C (n.*190G>C)
c.*102G>C (n.*102G>C)
c.54-936G>C
c.966G>C (p.Gly322=)
c.1050G>C (p.Gly350=)
c.606G>C (p.Gly202=)
dbSNP gnomAD v4
17g.7670626C>TCA10587282TP53c.1083G>A (p.Gly361=)
c.687G>A (p.Gly229=)
c.804G>A (p.Gly268=)
c.1062G>A (p.Gly354=)
c.993+2909G>A (n.993+2909G>A)
c.782+3555G>A (n.782+3555G>A)
c.*190G>A (n.*190G>A)
c.*102G>A (n.*102G>A)
c.54-936G>A
c.966G>A (p.Gly322=)
c.1050G>A (p.Gly350=)
c.606G>A (p.Gly202=)
ClinVar dbSNP gnomAD v4
17g.7670631dupCA2695224214TP53c.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)
17g.7670631delCA645587291TP53c.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
17g.7670627C>ACA397831885TP53c.1082G>T (p.Gly361Val)
c.686G>T (p.Gly229Val)
c.803G>T (p.Gly268Val)
c.1061G>T (p.Gly354Val)
c.993+2908G>T (n.993+2908G>T)
c.782+3554G>T (n.782+3554G>T)
c.*189G>T (n.*189G>T)
c.*101G>T (n.*101G>T)
c.54-937G>T
c.965G>T (p.Gly322Val)
c.1049G>T (p.Gly350Val)
c.605G>T (p.Gly202Val)
17g.7670627C=CA2245942419TP53c.1082G= (p.Gly361=)
c.686G= (p.Gly229=)
c.803G= (p.Gly268=)
c.1061G= (p.Gly354=)
c.993+2908G= (n.993+2908G=)
c.782+3554G= (n.782+3554G=)
c.*189G= (n.*189G=)
c.*101G= (n.*101G=)
c.54-937G=
c.965G= (p.Gly322=)
c.1049G= (p.Gly350=)
c.605G= (p.Gly202=)
17g.7670627C>GCA397831882TP53c.1082G>C (p.Gly361Ala)
c.686G>C (p.Gly229Ala)
c.803G>C (p.Gly268Ala)
c.1061G>C (p.Gly354Ala)
c.993+2908G>C (n.993+2908G>C)
c.782+3554G>C (n.782+3554G>C)
c.*189G>C (n.*189G>C)
c.*101G>C (n.*101G>C)
c.54-937G>C
c.965G>C (p.Gly322Ala)
c.1049G>C (p.Gly350Ala)
c.605G>C (p.Gly202Ala)
17g.7670627C>TCA000032TP53c.1082G>A (p.Gly361Glu)
c.686G>A (p.Gly229Glu)
c.803G>A (p.Gly268Glu)
c.1061G>A (p.Gly354Glu)
c.993+2908G>A (n.993+2908G>A)
c.782+3554G>A (n.782+3554G>A)
c.*189G>A (n.*189G>A)
c.*101G>A (n.*101G>A)
c.54-937G>A
c.965G>A (p.Gly322Glu)
c.1049G>A (p.Gly350Glu)
c.605G>A (p.Gly202Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.7670628C>ACA397831891TP53c.1081G>T (p.Gly361Trp)
c.685G>T (p.Gly229Trp)
c.802G>T (p.Gly268Trp)
c.1060G>T (p.Gly354Trp)
c.993+2907G>T (n.993+2907G>T)
c.782+3553G>T (n.782+3553G>T)
c.*188G>T (n.*188G>T)
c.*100G>T (n.*100G>T)
c.54-938G>T
c.964G>T (p.Gly322Trp)
c.1048G>T (p.Gly350Trp)
c.604G>T (p.Gly202Trp)
17g.7670628C=CA2245942423TP53c.1081G= (p.Gly361=)
c.685G= (p.Gly229=)
c.802G= (p.Gly268=)
c.1060G= (p.Gly354=)
c.993+2907G= (n.993+2907G=)
c.782+3553G= (n.782+3553G=)
c.*188G= (n.*188G=)
c.*100G= (n.*100G=)
c.54-938G=
c.964G= (p.Gly322=)
c.1048G= (p.Gly350=)
c.604G= (p.Gly202=)
17g.7670628C>GCA397831894TP53c.1081G>C (p.Gly361Arg)
c.685G>C (p.Gly229Arg)
c.802G>C (p.Gly268Arg)
c.1060G>C (p.Gly354Arg)
c.993+2907G>C (n.993+2907G>C)
c.782+3553G>C (n.782+3553G>C)
c.*188G>C (n.*188G>C)
c.*100G>C (n.*100G>C)
c.54-938G>C
c.964G>C (p.Gly322Arg)
c.1048G>C (p.Gly350Arg)
c.604G>C (p.Gly202Arg)
ClinVar dbSNP
17g.7670628C>TCA397831897TP53c.1081G>A (p.Gly361Arg)
c.685G>A (p.Gly229Arg)
c.802G>A (p.Gly268Arg)
c.1060G>A (p.Gly354Arg)
c.993+2907G>A (n.993+2907G>A)
c.782+3553G>A (n.782+3553G>A)
c.*188G>A (n.*188G>A)
c.*100G>A (n.*100G>A)
c.54-938G>A
c.964G>A (p.Gly322Arg)
c.1048G>A (p.Gly350Arg)
c.604G>A (p.Gly202Arg)
ClinVar dbSNP gnomAD v4 COSMIC
17g.7670628_7670666delCA645587292TP53c.1043_1081del (p.Leu348_Gly361delinsTrp)
c.647_685del (p.Leu216_Gly229delinsTrp)
c.764_802del (p.Leu255_Gly268delinsTrp)
c.1022_1060del (p.Leu341_Gly354delinsTrp)
c.993+2869_993+2907del (n.993+2869_993+2907del)
c.782+3515_782+3553del (n.782+3515_782+3553del)
c.*150_*188del (n.*150_*188del)
c.*62_*100del (n.*62_*100del)
c.54-976_54-938del
c.926_964del (p.Leu309_Gly322delinsTrp)
c.1010_1048del (p.Leu337_Gly350delinsTrp)
c.566_604del (p.Leu189_Gly202delinsTrp)
COSMIC
17g.7670629C>ACA497712508TP53c.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
17g.7670629C>GCA497712509TP53c.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
17g.7670629C>TCA497712510TP53c.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
17g.7670630C>ACA000030TP53c.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
17g.7670630C=CA2245942440TP53c.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=)
17g.7670630C>GCA000029TP53c.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
17g.7670630C>TCA10580905TP53c.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
17g.7670631C>ACA397831928TP53c.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
17g.7670631C=CA2245942456TP53c.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=)
17g.7670631C>GCA397831931TP53c.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
17g.7670631C>TCA000028TP53c.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
17g.7670631_7670632delinsCTCA2245942462TP53c.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=)
17g.7670632delCA658824695TP53c.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
17g.7670632T>ACA497712511TP53c.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=)
17g.7670632T>CCA000783TP53c.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
17g.7670632T>GCA497712512TP53c.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
17g.7670632T=CA2245942476TP53c.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=)
17g.7670633G>ACA397831943TP53c.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
17g.7670633G>CCA397831936TP53c.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
17g.7670633G=CA2245942486TP53c.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=)
17g.7670633G>TCA397831947TP53c.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)
17g.7670634G>ACA397831951TP53c.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
17g.7670634G>CCA397831962TP53c.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
17g.7670634G>TCA397831971TP53c.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
17g.7670635C>ACA397831980TP53c.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)
17g.7670635C>GCA397831984TP53c.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
17g.7670635C>TCA497712513TP53c.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=)
17g.7670636T>ACA000790TP53c.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
17g.7670636T>CCA397831988TP53c.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)
17g.7670636T>GCA397832002TP53c.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)
17g.7670636T=CA2245942494TP53c.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=)
17g.7670637C>ACA397832009TP53c.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)
17g.7670637C=CA2245942505TP53c.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=)
17g.7670637C>GCA397832022TP53c.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
17g.7670637C>TCA000027TP53c.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
17g.7670638C>ACA397832036TP53c.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
17g.7670638C>GCA397832042TP53c.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
17g.7670638C>TCA497712514TP53c.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
17g.7670639T>ACA397832057TP53c.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
17g.7670639T>CCA000797TP53c.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
17g.7670639T>GCA397832054TP53c.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
17g.7670639T=CA2245942515TP53c.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=)
17g.7670642_7670677delCA645587293TP53c.1035_1070del (p.Asn345_Gly356del)
c.639_674del (p.Asn213_Gly224del)
c.756_791del (p.Asn252_Gly263del)
c.1014_1049del (p.Asn338_Gly349del)
c.993+2861_993+2896del (n.993+2861_993+2896del)
c.782+3507_782+3542del (n.782+3507_782+3542del)
c.*142_*177del (n.*142_*177del)
c.*54_*89del (n.*54_*89del)
c.54-984_54-949del
c.918_953del (p.Asn306_Gly317del)
c.1002_1037del (p.Asn334_Gly345del)
c.558_593del (p.Asn186_Gly197del)
COSMIC COSMIC
17g.7670640T>ACA397832076TP53c.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)
17g.7670640T>CCA397832082TP53c.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
17g.7670640T>GCA397832092TP53c.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)
17g.7670640T=CA2245942520TP53c.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=)
17g.7670640_7670670delinsAAGGTCA645587294TP53c.1039_1069delinsACCTT (p.Ala347ThrfsTer26)
c.643_673delinsACCTT (p.Ala215ThrfsTer26)
c.760_790delinsACCTT (p.Ala254ThrfsTer26)
c.1018_1048delinsACCTT (p.Ala340ThrfsTer26)
c.993+2865_993+2895delinsACCTT (n.993+2865_993+2895delinsACCTT)
c.782+3511_782+3541delinsACCTT (n.782+3511_782+3541delinsACCTT)
c.*146_*176delinsACCTT (n.*146_*176delinsACCTT)
c.*58_*88delinsACCTT (n.*58_*88delinsACCTT)
c.54-980_54-950delinsACCTT
c.922_952delinsACCTT (p.Ala308ThrfsTer26)
c.1006_1036delinsACCTT (p.Ala336ThrfsTer26)
c.562_592delinsACCTT (p.Ala188ThrfsTer26)
c.922_952delinsACCTT (p.Ala308ThrfsTer31)
COSMIC
17g.7670641C>ACA497712519TP53c.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=)
17g.7670641C>GCA497712520TP53c.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
17g.7670641C>TCA497712522TP53c.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
17g.7670643delCA497712523TP53c.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
17g.7670642C>ACA397832097TP53c.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
17g.7670642C>GCA397832116TP53c.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
17g.7670642C>TCA397832120TP53c.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
17g.7670643C>ACA397832130TP53c.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
17g.7670643C=CA2245942536TP53c.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=)
17g.7670643C>GCA000803TP53c.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
17g.7670643C>TCA287485729TP53c.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
17g.7670644A=CA2245942548TP53c.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=)
17g.7670644A>CCA497712525TP53c.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=)
17g.7670644A>GCA16607842TP53c.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
17g.7670644A>TCA497712526TP53c.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
17g.7670645G>ACA397832139TP53c.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
17g.7670645G>CCA397832140TP53c.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
17g.7670645G=CA2245942564TP53c.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=)
17g.7670645G>TCA397832142TP53c.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
17g.7670645_7670666delinsTGCCA2695200372TP53c.1043_1064delinsGCA (p.Leu348CysfsTer16)
c.647_668delinsGCA (p.Leu216CysfsTer16)
c.764_785delinsGCA (p.Leu255CysfsTer16)
c.1022_1043delinsGCA (p.Leu341CysfsTer16)
c.993+2869_993+2890delinsGCA (n.993+2869_993+2890delinsGCA)
c.782+3515_782+3536delinsGCA (n.782+3515_782+3536delinsGCA)
c.*150_*171delinsGCA (n.*150_*171delinsGCA)
c.*62_*83delinsGCA (n.*62_*83delinsGCA)
c.54-976_54-955delinsGCA
c.926_947delinsGCA (p.Leu309CysfsTer16)
c.1010_1031delinsGCA (p.Leu337CysfsTer16)
c.566_587delinsGCA (p.Leu189CysfsTer16)
c.926_947delinsGCA (p.Leu309CysfsTer?)
ClinVar
17g.7670646C>ACA397832149TP53c.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
17g.7670646C=CA2245942577TP53c.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=)
17g.7670646C>GCA397832147TP53c.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
17g.7670646C>TCA397832145TP53c.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
17g.7670647C>ACA397832171TP53c.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
17g.7670647C=CA2245942581TP53c.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=)
17g.7670647C>GCA397832162TP53c.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
17g.7670647C>TCA497712531TP53c.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
17g.7670648T>ACA397832176TP53c.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
17g.7670648T>CCA000810TP53c.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
17g.7670648T>GCA397832177TP53c.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
17g.7670648T=CA2245942587TP53c.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=)
17g.7670648_7670666delCA645587295TP53c.1043_1061del (p.Leu348TrpfsTer16)
c.647_665del (p.Leu216TrpfsTer16)
c.764_782del (p.Leu255TrpfsTer16)
c.1022_1040del (p.Leu341TrpfsTer16)
c.993+2869_993+2887del (n.993+2869_993+2887del)
c.782+3515_782+3533del (n.782+3515_782+3533del)
c.*150_*168del (n.*150_*168del)
c.*62_*80del (n.*62_*80del)
c.54-976_54-958del
c.926_944del (p.Leu309TrpfsTer16)
c.1010_1028del (p.Leu337TrpfsTer16)
c.566_584del (p.Leu189TrpfsTer16)
c.926_944del (p.Leu309TrpfsTer?)
COSMIC
17g.7670649G>ACA397832178TP53c.1060C>T (p.Gln354Ter)
c.664C>T (p.Gln222Ter)
c.781C>T (p.Gln261Ter)
c.1039C>T (p.Gln347Ter)
c.993+2886C>T (n.993+2886C>T)
c.782+3532C>T (n.782+3532C>T)
c.*167C>T (n.*167C>T)
c.*79C>T (n.*79C>T)
c.54-959C>T
c.943C>T (p.Gln315Ter)
c.1027C>T (p.Gln343Ter)
c.583C>T (p.Gln195Ter)
ClinVar dbSNP COSMIC COSMIC
17g.7670649G>CCA397832179TP53c.1060C>G (p.Gln354Glu)
c.664C>G (p.Gln222Glu)
c.781C>G (p.Gln261Glu)
c.1039C>G (p.Gln347Glu)
c.993+2886C>G (n.993+2886C>G)
c.782+3532C>G (n.782+3532C>G)
c.*167C>G (n.*167C>G)
c.*79C>G (n.*79C>G)
c.54-959C>G
c.943C>G (p.Gln315Glu)
c.1027C>G (p.Gln343Glu)
c.583C>G (p.Gln195Glu)
ClinVar dbSNP
17g.7670649G=CA2245942608TP53c.1060C= (p.Gln354=)
c.664C= (p.Gln222=)
c.781C= (p.Gln261=)
c.1039C= (p.Gln347=)
c.993+2886C= (n.993+2886C=)
c.782+3532C= (n.782+3532C=)
c.*167C= (n.*167C=)
c.*79C= (n.*79C=)
c.54-959C=
c.943C= (p.Gln315=)
c.1027C= (p.Gln343=)
c.583C= (p.Gln195=)
17g.7670649G>TCA000816TP53c.1060C>A (p.Gln354Lys)
c.664C>A (p.Gln222Lys)
c.781C>A (p.Gln261Lys)
c.1039C>A (p.Gln347Lys)
c.993+2886C>A (n.993+2886C>A)
c.782+3532C>A (n.782+3532C>A)
c.*167C>A (n.*167C>A)
c.*79C>A (n.*79C>A)
c.54-959C>A
c.943C>A (p.Gln315Lys)
c.1027C>A (p.Gln343Lys)
c.583C>A (p.Gln195Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.7670650G>ACA497712535TP53c.1059C>T (p.Ala353=)
c.663C>T (p.Ala221=)
c.780C>T (p.Ala260=)
c.1038C>T (p.Ala346=)
c.993+2885C>T (n.993+2885C>T)
c.782+3531C>T (n.782+3531C>T)
c.*166C>T (n.*166C>T)
c.*78C>T (n.*78C>T)
c.54-960C>T
c.942C>T (p.Ala314=)
c.1026C>T (p.Ala342=)
c.582C>T (p.Ala194=)
17g.7670650G>CCA497712536TP53c.1059C>G (p.Ala353=)
c.663C>G (p.Ala221=)
c.780C>G (p.Ala260=)
c.1038C>G (p.Ala346=)
c.993+2885C>G (n.993+2885C>G)
c.782+3531C>G (n.782+3531C>G)
c.*166C>G (n.*166C>G)
c.*78C>G (n.*78C>G)
c.54-960C>G
c.942C>G (p.Ala314=)
c.1026C>G (p.Ala342=)
c.582C>G (p.Ala194=)
dbSNP
17g.7670650G>TCA497712538TP53c.1059C>A (p.Ala353=)
c.663C>A (p.Ala221=)
c.780C>A (p.Ala260=)
c.1038C>A (p.Ala346=)
c.993+2885C>A (n.993+2885C>A)
c.782+3531C>A (n.782+3531C>A)
c.*166C>A (n.*166C>A)
c.*78C>A (n.*78C>A)
c.54-960C>A
c.942C>A (p.Ala314=)
c.1026C>A (p.Ala342=)
c.582C>A (p.Ala194=)
ClinVar dbSNP
17g.7670651_7670661delCA645587296TP53c.1049_1059del (p.Leu350ProfsTer28)
c.653_663del (p.Leu218ProfsTer28)
c.770_780del (p.Leu257ProfsTer28)
c.1028_1038del (p.Leu343ProfsTer28)
c.993+2875_993+2885del (n.993+2875_993+2885del)
c.782+3521_782+3531del (n.782+3521_782+3531del)
c.*156_*166del (n.*156_*166del)
c.*68_*78del (n.*68_*78del)
c.54-970_54-960del
c.932_942del (p.Leu311ProfsTer28)
c.1016_1026del (p.Leu339ProfsTer28)
c.572_582del (p.Leu191ProfsTer28)
c.932_942del (p.Leu311ProfsTer?)
COSMIC
17g.7670651G>ACA397832186TP53c.1058C>T (p.Ala353Val)
c.662C>T (p.Ala221Val)
c.779C>T (p.Ala260Val)
c.1037C>T (p.Ala346Val)
c.993+2884C>T (n.993+2884C>T)
c.782+3530C>T (n.782+3530C>T)
c.*165C>T (n.*165C>T)
c.*77C>T (n.*77C>T)
c.54-961C>T
c.941C>T (p.Ala314Val)
c.1025C>T (p.Ala342Val)
c.581C>T (p.Ala194Val)
dbSNP COSMIC COSMIC
17g.7670651G>CCA397832205TP53c.1058C>G (p.Ala353Gly)
c.662C>G (p.Ala221Gly)
c.779C>G (p.Ala260Gly)
c.1037C>G (p.Ala346Gly)
c.993+2884C>G (n.993+2884C>G)
c.782+3530C>G (n.782+3530C>G)
c.*165C>G (n.*165C>G)
c.*77C>G (n.*77C>G)
c.54-961C>G
c.941C>G (p.Ala314Gly)
c.1025C>G (p.Ala342Gly)
c.581C>G (p.Ala194Gly)
dbSNP
17g.7670651G>TCA397832209TP53c.1058C>A (p.Ala353Asp)
c.662C>A (p.Ala221Asp)
c.779C>A (p.Ala260Asp)
c.1037C>A (p.Ala346Asp)
c.993+2884C>A (n.993+2884C>A)
c.782+3530C>A (n.782+3530C>A)
c.*165C>A (n.*165C>A)
c.*77C>A (n.*77C>A)
c.54-961C>A
c.941C>A (p.Ala314Asp)
c.1025C>A (p.Ala342Asp)
c.581C>A (p.Ala194Asp)
dbSNP
17g.7670652C>ACA397832219TP53c.1057G>T (p.Ala353Ser)
c.661G>T (p.Ala221Ser)
c.778G>T (p.Ala260Ser)
c.1036G>T (p.Ala346Ser)
c.993+2883G>T (n.993+2883G>T)
c.782+3529G>T (n.782+3529G>T)
c.*164G>T (n.*164G>T)
c.*76G>T (n.*76G>T)
c.54-962G>T
c.940G>T (p.Ala314Ser)
c.1024G>T (p.Ala342Ser)
c.580G>T (p.Ala194Ser)
ClinVar dbSNP
17g.7670652C>GCA397832220TP53c.1057G>C (p.Ala353Pro)
c.661G>C (p.Ala221Pro)
c.778G>C (p.Ala260Pro)
c.1036G>C (p.Ala346Pro)
c.993+2883G>C (n.993+2883G>C)
c.782+3529G>C (n.782+3529G>C)
c.*164G>C (n.*164G>C)
c.*76G>C (n.*76G>C)
c.54-962G>C
c.940G>C (p.Ala314Pro)
c.1024G>C (p.Ala342Pro)
c.580G>C (p.Ala194Pro)
dbSNP
17g.7670652C>TCA397832221TP53c.1057G>A (p.Ala353Thr)
c.661G>A (p.Ala221Thr)
c.778G>A (p.Ala260Thr)
c.1036G>A (p.Ala346Thr)
c.993+2883G>A (n.993+2883G>A)
c.782+3529G>A (n.782+3529G>A)
c.*164G>A (n.*164G>A)
c.*76G>A (n.*76G>A)
c.54-962G>A
c.940G>A (p.Ala314Thr)
c.1024G>A (p.Ala342Thr)
c.580G>A (p.Ala194Thr)
dbSNP COSMIC
17g.7670653_7670671delCA645587297TP53c.1039_1057del (p.Ala347ProfsTer17)
c.643_661del (p.Ala215ProfsTer17)
c.760_778del (p.Ala254ProfsTer17)
c.1018_1036del (p.Ala340ProfsTer17)
c.993+2865_993+2883del (n.993+2865_993+2883del)
c.782+3511_782+3529del (n.782+3511_782+3529del)
c.*146_*164del (n.*146_*164del)
c.*58_*76del (n.*58_*76del)
c.54-980_54-962del
c.922_940del (p.Ala308ProfsTer17)
c.1006_1024del (p.Ala336ProfsTer17)
c.562_580del (p.Ala188ProfsTer17)
c.922_940del (p.Ala308ProfsTer?)
COSMIC
17g.7670653A>CCA397832227TP53c.1056T>G (p.Asp352Glu)
c.660T>G (p.Asp220Glu)
c.777T>G (p.Asp259Glu)
c.1035T>G (p.Asp345Glu)
c.993+2882T>G (n.993+2882T>G)
c.782+3528T>G (n.782+3528T>G)
c.*163T>G (n.*163T>G)
c.*75T>G (n.*75T>G)
c.54-963T>G
c.939T>G (p.Asp313Glu)
c.1023T>G (p.Asp341Glu)
c.579T>G (p.Asp193Glu)
ClinVar
17g.7670653A>GCA497712540TP53c.1056T>C (p.Asp352=)
c.660T>C (p.Asp220=)
c.777T>C (p.Asp259=)
c.1035T>C (p.Asp345=)
c.993+2882T>C (n.993+2882T>C)
c.782+3528T>C (n.782+3528T>C)
c.*163T>C (n.*163T>C)
c.*75T>C (n.*75T>C)
c.54-963T>C
c.939T>C (p.Asp313=)
c.1023T>C (p.Asp341=)
c.579T>C (p.Asp193=)
17g.7670653A>TCA397832224TP53c.1056T>A (p.Asp352Glu)
c.660T>A (p.Asp220Glu)
c.777T>A (p.Asp259Glu)
c.1035T>A (p.Asp345Glu)
c.993+2882T>A (n.993+2882T>A)
c.782+3528T>A (n.782+3528T>A)
c.*163T>A (n.*163T>A)
c.*75T>A (n.*75T>A)
c.54-963T>A
c.939T>A (p.Asp313Glu)
c.1023T>A (p.Asp341Glu)
c.579T>A (p.Asp193Glu)
dbSNP
17g.7670653_7670654delinsTGCA10575448TP53c.1055_1056delinsCA (p.Asp352Ala)
c.659_660delinsCA (p.Asp220Ala)
c.776_777delinsCA (p.Asp259Ala)
c.1034_1035delinsCA (p.Asp345Ala)
c.993+2881_993+2882delinsCA (n.993+2881_993+2882delinsCA)
c.782+3527_782+3528delinsCA (n.782+3527_782+3528delinsCA)
c.*162_*163delinsCA (n.*162_*163delinsCA)
c.*74_*75delinsCA (n.*74_*75delinsCA)
c.54-964_54-963delinsCA
c.938_939delinsCA (p.Asp313Ala)
c.1022_1023delinsCA (p.Asp341Ala)
c.578_579delinsCA (p.Asp193Ala)
17g.7670654T>ACA397832231TP53c.1055A>T (p.Asp352Val)
c.659A>T (p.Asp220Val)
c.776A>T (p.Asp259Val)
c.1034A>T (p.Asp345Val)
c.993+2881A>T (n.993+2881A>T)
c.782+3527A>T (n.782+3527A>T)
c.*162A>T (n.*162A>T)
c.*74A>T (n.*74A>T)
c.54-964A>T
c.938A>T (p.Asp313Val)
c.1022A>T (p.Asp341Val)
c.578A>T (p.Asp193Val)
17g.7670654T>CCA397832234TP53c.1055A>G (p.Asp352Gly)
c.659A>G (p.Asp220Gly)
c.776A>G (p.Asp259Gly)
c.1034A>G (p.Asp345Gly)
c.993+2881A>G (n.993+2881A>G)
c.782+3527A>G (n.782+3527A>G)
c.*162A>G (n.*162A>G)
c.*74A>G (n.*74A>G)
c.54-964A>G
c.938A>G (p.Asp313Gly)
c.1022A>G (p.Asp341Gly)
c.578A>G (p.Asp193Gly)
17g.7670654T>GCA397832238TP53c.1055A>C (p.Asp352Ala)
c.659A>C (p.Asp220Ala)
c.776A>C (p.Asp259Ala)
c.1034A>C (p.Asp345Ala)
c.993+2881A>C (n.993+2881A>C)
c.782+3527A>C (n.782+3527A>C)
c.*162A>C (n.*162A>C)
c.*74A>C (n.*74A>C)
c.54-964A>C
c.938A>C (p.Asp313Ala)
c.1022A>C (p.Asp341Ala)
c.578A>C (p.Asp193Ala)
17g.7670654_7670663delCA2573154613TP53c.1046_1055del (p.Glu349ValfsTer18)
c.650_659del (p.Glu217ValfsTer18)
c.767_776del (p.Glu256ValfsTer18)
c.1025_1034del (p.Glu342ValfsTer18)
c.993+2872_993+2881del (n.993+2872_993+2881del)
c.782+3518_782+3527del (n.782+3518_782+3527del)
c.*153_*162del (n.*153_*162del)
c.*65_*74del (n.*65_*74del)
c.54-973_54-964del
c.929_938del (p.Glu310ValfsTer18)
c.1013_1022del (p.Glu338ValfsTer18)
c.569_578del (p.Glu190ValfsTer18)
c.929_938del (p.Glu310ValfsTer?)
ClinVar dbSNP
17g.7670655C>ACA397832246TP53c.1054G>T (p.Asp352Tyr)
c.658G>T (p.Asp220Tyr)
c.775G>T (p.Asp259Tyr)
c.1033G>T (p.Asp345Tyr)
c.993+2880G>T (n.993+2880G>T)
c.782+3526G>T (n.782+3526G>T)
c.*161G>T (n.*161G>T)
c.*73G>T (n.*73G>T)
c.54-965G>T
c.937G>T (p.Asp313Tyr)
c.1021G>T (p.Asp341Tyr)
c.577G>T (p.Asp193Tyr)
ClinVar dbSNP gnomAD v4
17g.7670655C=CA2245942622TP53c.1054G= (p.Asp352=)
c.658G= (p.Asp220=)
c.775G= (p.Asp259=)
c.1033G= (p.Asp345=)
c.993+2880G= (n.993+2880G=)
c.782+3526G= (n.782+3526G=)
c.*161G= (n.*161G=)
c.*73G= (n.*73G=)
c.54-965G=
c.937G= (p.Asp313=)
c.1021G= (p.Asp341=)
c.577G= (p.Asp193=)
17g.7670655C>GCA397832249TP53c.1054G>C (p.Asp352His)
c.658G>C (p.Asp220His)
c.775G>C (p.Asp259His)
c.1033G>C (p.Asp345His)
c.993+2880G>C (n.993+2880G>C)
c.782+3526G>C (n.782+3526G>C)
c.*161G>C (n.*161G>C)
c.*73G>C (n.*73G>C)
c.54-965G>C
c.937G>C (p.Asp313His)
c.1021G>C (p.Asp341His)
c.577G>C (p.Asp193His)
ClinVar dbSNP
17g.7670655C>TCA397832256TP53c.1054G>A (p.Asp352Asn)
c.658G>A (p.Asp220Asn)
c.775G>A (p.Asp259Asn)
c.1033G>A (p.Asp345Asn)
c.993+2880G>A (n.993+2880G>A)
c.782+3526G>A (n.782+3526G>A)
c.*161G>A (n.*161G>A)
c.*73G>A (n.*73G>A)
c.54-965G>A
c.937G>A (p.Asp313Asn)
c.1021G>A (p.Asp341Asn)
c.577G>A (p.Asp193Asn)
dbSNP
17g.7670656delCA2573154614TP53c.1054del (p.Asp352MetfsTer18)
c.658del (p.Asp220MetfsTer18)
c.775del (p.Asp259MetfsTer18)
c.1033del (p.Asp345MetfsTer18)
c.993+2880del (n.993+2880del)
c.782+3526del (n.782+3526del)
c.*161del (n.*161del)
c.*73del (n.*73del)
c.54-965del
c.937del (p.Asp313MetfsTer18)
c.1021del (p.Asp341MetfsTer18)
c.577del (p.Asp193MetfsTer18)
c.937del (p.Asp313MetfsTer?)
ClinVar dbSNP
17g.7670655_7670667delCA2733133570TP53c.1042_1054del (p.Leu348MetfsTer18)
c.646_658del (p.Leu216MetfsTer18)
c.763_775del (p.Leu255MetfsTer18)
c.1021_1033del (p.Leu341MetfsTer18)
c.993+2868_993+2880del (n.993+2868_993+2880del)
c.782+3514_782+3526del (n.782+3514_782+3526del)
c.*149_*161del (n.*149_*161del)
c.*61_*73del (n.*61_*73del)
c.54-977_54-965del
c.925_937del (p.Leu309MetfsTer18)
c.1009_1021del (p.Leu337MetfsTer18)
c.565_577del (p.Leu189MetfsTer18)
c.925_937del (p.Leu309MetfsTer?)
dbSNP
17g.7670658_7670672delCA2733133408TP53c.1040_1054del (p.Ala347_Lys351del)
c.644_658del (p.Ala215_Lys219del)
c.761_775del (p.Ala254_Lys258del)
c.1019_1033del (p.Ala340_Lys344del)
c.993+2866_993+2880del (n.993+2866_993+2880del)
c.782+3512_782+3526del (n.782+3512_782+3526del)
c.*147_*161del (n.*147_*161del)
c.*59_*73del (n.*59_*73del)
c.54-979_54-965del
c.923_937del (p.Ala308_Lys312del)
c.1007_1021del (p.Ala336_Lys340del)
c.563_577del (p.Ala188_Lys192del)
dbSNP
17g.7670656C>ACA397832268TP53c.1053G>T (p.Lys351Asn)
c.657G>T (p.Lys219Asn)
c.774G>T (p.Lys258Asn)
c.1032G>T (p.Lys344Asn)
c.993+2879G>T (n.993+2879G>T)
c.782+3525G>T (n.782+3525G>T)
c.*160G>T (n.*160G>T)
c.*72G>T (n.*72G>T)
c.54-966G>T
c.936G>T (p.Lys312Asn)
c.1020G>T (p.Lys340Asn)
c.576G>T (p.Lys192Asn)
ClinVar dbSNP COSMIC COSMIC
17g.7670656C=CA2245942636TP53c.1053G= (p.Lys351=)
c.657G= (p.Lys219=)
c.774G= (p.Lys258=)
c.1032G= (p.Lys344=)
c.993+2879G= (n.993+2879G=)
c.782+3525G= (n.782+3525G=)
c.*160G= (n.*160G=)
c.*72G= (n.*72G=)
c.54-966G=
c.936G= (p.Lys312=)
c.1020G= (p.Lys340=)
c.576G= (p.Lys192=)
17g.7670656C>GCA397832273TP53c.1053G>C (p.Lys351Asn)
c.657G>C (p.Lys219Asn)
c.774G>C (p.Lys258Asn)
c.1032G>C (p.Lys344Asn)
c.993+2879G>C (n.993+2879G>C)
c.782+3525G>C (n.782+3525G>C)
c.*160G>C (n.*160G>C)
c.*72G>C (n.*72G>C)
c.54-966G>C
c.936G>C (p.Lys312Asn)
c.1020G>C (p.Lys340Asn)
c.576G>C (p.Lys192Asn)
17g.7670656C>TCA497712543TP53c.1053G>A (p.Lys351=)
c.657G>A (p.Lys219=)
c.774G>A (p.Lys258=)
c.1032G>A (p.Lys344=)
c.993+2879G>A (n.993+2879G>A)
c.782+3525G>A (n.782+3525G>A)
c.*160G>A (n.*160G>A)
c.*72G>A (n.*72G>A)
c.54-966G>A
c.936G>A (p.Lys312=)
c.1020G>A (p.Lys340=)
c.576G>A (p.Lys192=)
dbSNP
17g.7670657T>ACA397832276TP53c.1052A>T (p.Lys351Met)
c.656A>T (p.Lys219Met)
c.773A>T (p.Lys258Met)
c.1031A>T (p.Lys344Met)
c.993+2878A>T (n.993+2878A>T)
c.782+3524A>T (n.782+3524A>T)
c.*159A>T (n.*159A>T)
c.*71A>T (n.*71A>T)
c.54-967A>T
c.935A>T (p.Lys312Met)
c.1019A>T (p.Lys340Met)
c.575A>T (p.Lys192Met)
dbSNP
17g.7670657T>CCA397832291TP53c.1052A>G (p.Lys351Arg)
c.656A>G (p.Lys219Arg)
c.773A>G (p.Lys258Arg)
c.1031A>G (p.Lys344Arg)
c.993+2878A>G (n.993+2878A>G)
c.782+3524A>G (n.782+3524A>G)
c.*159A>G (n.*159A>G)
c.*71A>G (n.*71A>G)
c.54-967A>G
c.935A>G (p.Lys312Arg)
c.1019A>G (p.Lys340Arg)
c.575A>G (p.Lys192Arg)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.7670657T>GCA397832305TP53c.1052A>C (p.Lys351Thr)
c.656A>C (p.Lys219Thr)
c.773A>C (p.Lys258Thr)
c.1031A>C (p.Lys344Thr)
c.993+2878A>C (n.993+2878A>C)
c.782+3524A>C (n.782+3524A>C)
c.*159A>C (n.*159A>C)
c.*71A>C (n.*71A>C)
c.54-967A>C
c.935A>C (p.Lys312Thr)
c.1019A>C (p.Lys340Thr)
c.575A>C (p.Lys192Thr)
17g.7670657T=CA2245942648TP53c.1052A= (p.Lys351=)
c.656A= (p.Lys219=)
c.773A= (p.Lys258=)
c.1031A= (p.Lys344=)
c.993+2878A= (n.993+2878A=)
c.782+3524A= (n.782+3524A=)
c.*159A= (n.*159A=)
c.*71A= (n.*71A=)
c.54-967A=
c.935A= (p.Lys312=)
c.1019A= (p.Lys340=)
c.575A= (p.Lys192=)
17g.7670658delCA2499224950TP53c.1052del (p.Lys351ArgfsTer19)
c.656del (p.Lys219ArgfsTer19)
c.773del (p.Lys258ArgfsTer19)
c.1031del (p.Lys344ArgfsTer19)
c.993+2878del (n.993+2878del)
c.782+3524del (n.782+3524del)
c.*159del (n.*159del)
c.*71del (n.*71del)
c.54-967del
c.935del (p.Lys312ArgfsTer19)
c.1019del (p.Lys340ArgfsTer19)
c.575del (p.Lys192ArgfsTer19)
c.935del (p.Lys312ArgfsTer?)
ClinVar dbSNP
17g.7670657_7670665delinsTTGAGTTCCCA2245942644TP53c.1044_1052delinsGGAACTCAA (p.Leu348=)
c.648_656delinsGGAACTCAA (p.Leu216=)
c.765_773delinsGGAACTCAA (p.Leu255=)
c.1023_1031delinsGGAACTCAA (p.Leu341=)
c.993+2870_993+2878delinsGGAACTCAA (n.993+2870_993+2878delinsGGAACTCAA)
c.782+3516_782+3524delinsGGAACTCAA (n.782+3516_782+3524delinsGGAACTCAA)
c.*151_*159delinsGGAACTCAA (n.*151_*159delinsGGAACTCAA)
c.*63_*71delinsGGAACTCAA (n.*63_*71delinsGGAACTCAA)
c.54-975_54-967delinsGGAACTCAA
c.927_935delinsGGAACTCAA (p.Leu309=)
c.1011_1019delinsGGAACTCAA (p.Leu337=)
c.567_575delinsGGAACTCAA (p.Leu189=)
17g.7670657_7670666delinsTTGAGTTCCACA2245942655TP53c.1043_1052delinsTGGAACTCAA (p.Leu348=)
c.647_656delinsTGGAACTCAA (p.Leu216=)
c.764_773delinsTGGAACTCAA (p.Leu255=)
c.1022_1031delinsTGGAACTCAA (p.Leu341=)
c.993+2869_993+2878delinsTGGAACTCAA (n.993+2869_993+2878delinsTGGAACTCAA)
c.782+3515_782+3524delinsTGGAACTCAA (n.782+3515_782+3524delinsTGGAACTCAA)
c.*150_*159delinsTGGAACTCAA (n.*150_*159delinsTGGAACTCAA)
c.*62_*71delinsTGGAACTCAA (n.*62_*71delinsTGGAACTCAA)
c.54-976_54-967delinsTGGAACTCAA
c.926_935delinsTGGAACTCAA (p.Leu309=)
c.1010_1019delinsTGGAACTCAA (p.Leu337=)
c.566_575delinsTGGAACTCAA (p.Leu189=)
17g.7670658T>ACA397832311TP53c.1051A>T (p.Lys351Ter)
c.655A>T (p.Lys219Ter)
c.772A>T (p.Lys258Ter)
c.1030A>T (p.Lys344Ter)
c.993+2877A>T (n.993+2877A>T)
c.782+3523A>T (n.782+3523A>T)
c.*158A>T (n.*158A>T)
c.*70A>T (n.*70A>T)
c.54-968A>T
c.934A>T (p.Lys312Ter)
c.1018A>T (p.Lys340Ter)
c.574A>T (p.Lys192Ter)
ClinVar dbSNP COSMIC COSMIC
17g.7670658T>CCA000023TP53c.1051A>G (p.Lys351Glu)
c.655A>G (p.Lys219Glu)
c.772A>G (p.Lys258Glu)
c.1030A>G (p.Lys344Glu)
c.993+2877A>G (n.993+2877A>G)
c.782+3523A>G (n.782+3523A>G)
c.*158A>G (n.*158A>G)
c.*70A>G (n.*70A>G)
c.54-968A>G
c.934A>G (p.Lys312Glu)
c.1018A>G (p.Lys340Glu)
c.574A>G (p.Lys192Glu)
ClinVar dbSNP COSMIC COSMIC
17g.7670658T>GCA397832315TP53c.1051A>C (p.Lys351Gln)
c.655A>C (p.Lys219Gln)
c.772A>C (p.Lys258Gln)
c.1030A>C (p.Lys344Gln)
c.993+2877A>C (n.993+2877A>C)
c.782+3523A>C (n.782+3523A>C)
c.*158A>C (n.*158A>C)
c.*70A>C (n.*70A>C)
c.54-968A>C
c.934A>C (p.Lys312Gln)
c.1018A>C (p.Lys340Gln)
c.574A>C (p.Lys192Gln)
17g.7670658T=CA2245942676TP53c.1051A= (p.Lys351=)
c.655A= (p.Lys219=)
c.772A= (p.Lys258=)
c.1030A= (p.Lys344=)
c.993+2877A= (n.993+2877A=)
c.782+3523A= (n.782+3523A=)
c.*158A= (n.*158A=)
c.*70A= (n.*70A=)
c.54-968A=
c.934A= (p.Lys312=)
c.1018A= (p.Lys340=)
c.574A= (p.Lys192=)
17g.7670658_7670660delinsTGACA2245942677TP53c.1049_1051delinsTCA (p.Leu350=)
c.653_655delinsTCA (p.Leu218=)
c.770_772delinsTCA (p.Leu257=)
c.1028_1030delinsTCA (p.Leu343=)
c.993+2875_993+2877delinsTCA (n.993+2875_993+2877delinsTCA)
c.782+3521_782+3523delinsTCA (n.782+3521_782+3523delinsTCA)
c.*156_*158delinsTCA (n.*156_*158delinsTCA)
c.*68_*70delinsTCA (n.*68_*70delinsTCA)
c.54-970_54-968delinsTCA
c.932_934delinsTCA (p.Leu311=)
c.1016_1018delinsTCA (p.Leu339=)
c.572_574delinsTCA (p.Leu191=)
17g.7670658_7670665delCA16603358TP53c.1044_1051del (p.Glu349GlyfsTer?)
c.648_655del (p.Glu217GlyfsTer?)
c.765_772del (p.Glu256GlyfsTer?)
c.1023_1030del (p.Glu342GlyfsTer?)
c.993+2870_993+2877del (n.993+2870_993+2877del)
c.782+3516_782+3523del (n.782+3516_782+3523del)
c.*151_*158del (n.*151_*158del)
c.*63_*70del (n.*63_*70del)
c.54-975_54-968del
c.927_934del (p.Glu310GlyfsTer?)
c.1011_1018del (p.Glu338GlyfsTer?)
c.567_574del (p.Glu190GlyfsTer?)
ClinVar dbSNP
17g.7670658_7670666delinsCCA891844038TP53c.1043_1051delinsG (p.Leu348Ter)
c.647_655delinsG (p.Leu216Ter)
c.764_772delinsG (p.Leu255Ter)
c.1022_1030delinsG (p.Leu341Ter)
c.993+2869_993+2877delinsG (n.993+2869_993+2877delinsG)
c.782+3515_782+3523delinsG (n.782+3515_782+3523delinsG)
c.*150_*158delinsG (n.*150_*158delinsG)
c.*62_*70delinsG (n.*62_*70delinsG)
c.54-976_54-968delinsG
c.926_934delinsG (p.Leu309Ter)
c.1010_1018delinsG (p.Leu337Ter)
c.566_574delinsG (p.Leu189Ter)
ClinVar dbSNP
17g.7670659delCA497712546TP53c.1050del (p.Lys351ArgfsTer19)
c.654del (p.Lys219ArgfsTer19)
c.771del (p.Lys258ArgfsTer19)
c.1029del (p.Lys344ArgfsTer19)
c.993+2876del (n.993+2876del)
c.782+3522del (n.782+3522del)
c.*157del (n.*157del)
c.*69del (n.*69del)
c.54-969del
c.933del (p.Lys312ArgfsTer19)
c.1017del (p.Lys340ArgfsTer19)
c.573del (p.Lys192ArgfsTer19)
c.933del (p.Lys312ArgfsTer?)
COSMIC
17g.7670659G>ACA497712545TP53c.1050C>T (p.Leu350=)
c.654C>T (p.Leu218=)
c.771C>T (p.Leu257=)
c.1029C>T (p.Leu343=)
c.993+2876C>T (n.993+2876C>T)
c.782+3522C>T (n.782+3522C>T)
c.*157C>T (n.*157C>T)
c.*69C>T (n.*69C>T)
c.54-969C>T
c.933C>T (p.Leu311=)
c.1017C>T (p.Leu339=)
c.573C>T (p.Leu191=)
ClinVar dbSNP
17g.7670659G>CCA497712547TP53c.1050C>G (p.Leu350=)
c.654C>G (p.Leu218=)
c.771C>G (p.Leu257=)
c.1029C>G (p.Leu343=)
c.993+2876C>G (n.993+2876C>G)
c.782+3522C>G (n.782+3522C>G)
c.*157C>G (n.*157C>G)
c.*69C>G (n.*69C>G)
c.54-969C>G
c.933C>G (p.Leu311=)
c.1017C>G (p.Leu339=)
c.573C>G (p.Leu191=)
dbSNP COSMIC COSMIC
17g.7670659G>TCA497712548TP53c.1050C>A (p.Leu350=)
c.654C>A (p.Leu218=)
c.771C>A (p.Leu257=)
c.1029C>A (p.Leu343=)
c.993+2876C>A (n.993+2876C>A)
c.782+3522C>A (n.782+3522C>A)
c.*157C>A (n.*157C>A)
c.*69C>A (n.*69C>A)
c.54-969C>A
c.933C>A (p.Leu311=)
c.1017C>A (p.Leu339=)
c.573C>A (p.Leu191=)
17g.7670660_7670661delCA645369694TP53c.1049_1050del (p.Leu350GlnfsTer?)
c.653_654del (p.Leu218GlnfsTer?)
c.770_771del (p.Leu257GlnfsTer?)
c.1028_1029del (p.Leu343GlnfsTer?)
c.993+2875_993+2876del (n.993+2875_993+2876del)
c.782+3521_782+3522del (n.782+3521_782+3522del)
c.*156_*157del (n.*156_*157del)
c.*68_*69del (n.*68_*69del)
c.54-970_54-969del
c.932_933del (p.Leu311GlnfsTer?)
c.1016_1017del (p.Leu339GlnfsTer?)
c.572_573del (p.Leu191GlnfsTer?)
ClinVar dbSNP
17g.7670660A>CCA397832335TP53c.1049T>G (p.Leu350Arg)
c.653T>G (p.Leu218Arg)
c.770T>G (p.Leu257Arg)
c.1028T>G (p.Leu343Arg)
c.993+2875T>G (n.993+2875T>G)
c.782+3521T>G (n.782+3521T>G)
c.*156T>G (n.*156T>G)
c.*68T>G (n.*68T>G)
c.54-970T>G
c.932T>G (p.Leu311Arg)
c.1016T>G (p.Leu339Arg)
c.572T>G (p.Leu191Arg)
17g.7670660A>GCA397832338TP53c.1049T>C (p.Leu350Pro)
c.653T>C (p.Leu218Pro)
c.770T>C (p.Leu257Pro)
c.1028T>C (p.Leu343Pro)
c.993+2875T>C (n.993+2875T>C)
c.782+3521T>C (n.782+3521T>C)
c.*156T>C (n.*156T>C)
c.*68T>C (n.*68T>C)
c.54-970T>C
c.932T>C (p.Leu311Pro)
c.1016T>C (p.Leu339Pro)
c.572T>C (p.Leu191Pro)
ClinVar dbSNP
17g.7670660A>TCA397832322TP53c.1049T>A (p.Leu350His)
c.653T>A (p.Leu218His)
c.770T>A (p.Leu257His)
c.1028T>A (p.Leu343His)
c.993+2875T>A (n.993+2875T>A)
c.782+3521T>A (n.782+3521T>A)
c.*156T>A (n.*156T>A)
c.*68T>A (n.*68T>A)
c.54-970T>A
c.932T>A (p.Leu311His)
c.1016T>A (p.Leu339His)
c.572T>A (p.Leu191His)
dbSNP
17g.7670661G>ACA397832343TP53c.1048C>T (p.Leu350Phe)
c.652C>T (p.Leu218Phe)
c.769C>T (p.Leu257Phe)
c.1027C>T (p.Leu343Phe)
c.993+2874C>T (n.993+2874C>T)
c.782+3520C>T (n.782+3520C>T)
c.*155C>T (n.*155C>T)
c.*67C>T (n.*67C>T)
c.54-971C>T
c.931C>T (p.Leu311Phe)
c.1015C>T (p.Leu339Phe)
c.571C>T (p.Leu191Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.7670661G>CCA000823TP53c.1048C>G (p.Leu350Val)
c.652C>G (p.Leu218Val)
c.769C>G (p.Leu257Val)
c.1027C>G (p.Leu343Val)
c.993+2874C>G (n.993+2874C>G)
c.782+3520C>G (n.782+3520C>G)
c.*155C>G (n.*155C>G)
c.*67C>G (n.*67C>G)
c.54-971C>G
c.931C>G (p.Leu311Val)
c.1015C>G (p.Leu339Val)
c.571C>G (p.Leu191Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.7670661G=CA2245942705TP53c.1048C= (p.Leu350=)
c.652C= (p.Leu218=)
c.769C= (p.Leu257=)
c.1027C= (p.Leu343=)
c.993+2874C= (n.993+2874C=)
c.782+3520C= (n.782+3520C=)
c.*155C= (n.*155C=)
c.*67C= (n.*67C=)
c.54-971C=
c.931C= (p.Leu311=)
c.1015C= (p.Leu339=)
c.571C= (p.Leu191=)
17g.7670661G>TCA397832357TP53c.1048C>A (p.Leu350Ile)
c.652C>A (p.Leu218Ile)
c.769C>A (p.Leu257Ile)
c.1027C>A (p.Leu343Ile)
c.993+2874C>A (n.993+2874C>A)
c.782+3520C>A (n.782+3520C>A)
c.*155C>A (n.*155C>A)
c.*67C>A (n.*67C>A)
c.54-971C>A
c.931C>A (p.Leu311Ile)
c.1015C>A (p.Leu339Ile)
c.571C>A (p.Leu191Ile)
dbSNP
17g.7670662T>ACA397832360TP53c.1047A>T (p.Glu349Asp)
c.651A>T (p.Glu217Asp)
c.768A>T (p.Glu256Asp)
c.1026A>T (p.Glu342Asp)
c.993+2873A>T (n.993+2873A>T)
c.782+3519A>T (n.782+3519A>T)
c.*154A>T (n.*154A>T)
c.*66A>T (n.*66A>T)
c.54-972A>T
c.930A>T (p.Glu310Asp)
c.1014A>T (p.Glu338Asp)
c.570A>T (p.Glu190Asp)
dbSNP
17g.7670662T>CCA497712551TP53c.1047A>G (p.Glu349=)
c.651A>G (p.Glu217=)
c.768A>G (p.Glu256=)
c.1026A>G (p.Glu342=)
c.993+2873A>G (n.993+2873A>G)
c.782+3519A>G (n.782+3519A>G)
c.*154A>G (n.*154A>G)
c.*66A>G (n.*66A>G)
c.54-972A>G
c.930A>G (p.Glu310=)
c.1014A>G (p.Glu338=)
c.570A>G (p.Glu190=)
17g.7670662T>GCA397832362TP53c.1047A>C (p.Glu349Asp)
c.651A>C (p.Glu217Asp)
c.768A>C (p.Glu256Asp)
c.1026A>C (p.Glu342Asp)
c.993+2873A>C (n.993+2873A>C)
c.782+3519A>C (n.782+3519A>C)
c.*154A>C (n.*154A>C)
c.*66A>C (n.*66A>C)
c.54-972A>C
c.930A>C (p.Glu310Asp)
c.1014A>C (p.Glu338Asp)
c.570A>C (p.Glu190Asp)
dbSNP
17g.7670663T>ACA397832367TP53c.1046A>T (p.Glu349Val)
c.650A>T (p.Glu217Val)
c.767A>T (p.Glu256Val)
c.1025A>T (p.Glu342Val)
c.993+2872A>T (n.993+2872A>T)
c.782+3518A>T (n.782+3518A>T)
c.*153A>T (n.*153A>T)
c.*65A>T (n.*65A>T)
c.54-973A>T
c.929A>T (p.Glu310Val)
c.1013A>T (p.Glu338Val)
c.569A>T (p.Glu190Val)
17g.7670663T>CCA397832369TP53c.1046A>G (p.Glu349Gly)
c.650A>G (p.Glu217Gly)
c.767A>G (p.Glu256Gly)
c.1025A>G (p.Glu342Gly)
c.993+2872A>G (n.993+2872A>G)
c.782+3518A>G (n.782+3518A>G)
c.*153A>G (n.*153A>G)
c.*65A>G (n.*65A>G)
c.54-973A>G
c.929A>G (p.Glu310Gly)
c.1013A>G (p.Glu338Gly)
c.569A>G (p.Glu190Gly)
ClinVar
17g.7670663T>GCA397832373TP53c.1046A>C (p.Glu349Ala)
c.650A>C (p.Glu217Ala)
c.767A>C (p.Glu256Ala)
c.1025A>C (p.Glu342Ala)
c.993+2872A>C (n.993+2872A>C)
c.782+3518A>C (n.782+3518A>C)
c.*153A>C (n.*153A>C)
c.*65A>C (n.*65A>C)
c.54-973A>C
c.929A>C (p.Glu310Ala)
c.1013A>C (p.Glu338Ala)
c.569A>C (p.Glu190Ala)
17g.7670664C>ACA397832377TP53c.1045G>T (p.Glu349Ter)
c.649G>T (p.Glu217Ter)
c.766G>T (p.Glu256Ter)
c.1024G>T (p.Glu342Ter)
c.993+2871G>T (n.993+2871G>T)
c.782+3517G>T (n.782+3517G>T)
c.*152G>T (n.*152G>T)
c.*64G>T (n.*64G>T)
c.54-974G>T
c.928G>T (p.Glu310Ter)
c.1012G>T (p.Glu338Ter)
c.568G>T (p.Glu190Ter)
ClinVar dbSNP COSMIC COSMIC
17g.7670664C=CA2245942730TP53c.1045G= (p.Glu349=)
c.649G= (p.Glu217=)
c.766G= (p.Glu256=)
c.1024G= (p.Glu342=)
c.993+2871G= (n.993+2871G=)
c.782+3517G= (n.782+3517G=)
c.*152G= (n.*152G=)
c.*64G= (n.*64G=)
c.54-974G=
c.928G= (p.Glu310=)
c.1012G= (p.Glu338=)
c.568G= (p.Glu190=)
17g.7670664C>GCA397832378TP53c.1045G>C (p.Glu349Gln)
c.649G>C (p.Glu217Gln)
c.766G>C (p.Glu256Gln)
c.1024G>C (p.Glu342Gln)
c.993+2871G>C (n.993+2871G>C)
c.782+3517G>C (n.782+3517G>C)
c.*152G>C (n.*152G>C)
c.*64G>C (n.*64G>C)
c.54-974G>C
c.928G>C (p.Glu310Gln)
c.1012G>C (p.Glu338Gln)
c.568G>C (p.Glu190Gln)
ClinVar dbSNP gnomAD v4
17g.7670664C>TCA397832380TP53c.1045G>A (p.Glu349Lys)
c.649G>A (p.Glu217Lys)
c.766G>A (p.Glu256Lys)
c.1024G>A (p.Glu342Lys)
c.993+2871G>A (n.993+2871G>A)
c.782+3517G>A (n.782+3517G>A)
c.*152G>A (n.*152G>A)
c.*64G>A (n.*64G>A)
c.54-974G>A
c.928G>A (p.Glu310Lys)
c.1012G>A (p.Glu338Lys)
c.568G>A (p.Glu190Lys)
ClinVar dbSNP
17g.7670665delCA497712556TP53c.1045del (p.Glu349AsnfsTer21)
c.649del (p.Glu217AsnfsTer21)
c.766del (p.Glu256AsnfsTer21)
c.1024del (p.Glu342AsnfsTer21)
c.993+2871del (n.993+2871del)
c.782+3517del (n.782+3517del)
c.*152del (n.*152del)
c.*64del (n.*64del)
c.54-974del
c.928del (p.Glu310AsnfsTer21)
c.1012del (p.Glu338AsnfsTer21)
c.568del (p.Glu190AsnfsTer21)
c.928del (p.Glu310AsnfsTer?)
dbSNP COSMIC COSMIC
17g.7670665C>ACA397832382TP53c.1044G>T (p.Leu348Phe)
c.648G>T (p.Leu216Phe)
c.765G>T (p.Leu255Phe)
c.1023G>T (p.Leu341Phe)
c.993+2870G>T (n.993+2870G>T)
c.782+3516G>T (n.782+3516G>T)
c.*151G>T (n.*151G>T)
c.*63G>T (n.*63G>T)
c.54-975G>T
c.927G>T (p.Leu309Phe)
c.1011G>T (p.Leu337Phe)
c.567G>T (p.Leu189Phe)
dbSNP COSMIC COSMIC
17g.7670665C>GCA397832388TP53c.1044G>C (p.Leu348Phe)
c.648G>C (p.Leu216Phe)
c.765G>C (p.Leu255Phe)
c.1023G>C (p.Leu341Phe)
c.993+2870G>C (n.993+2870G>C)
c.782+3516G>C (n.782+3516G>C)
c.*151G>C (n.*151G>C)
c.*63G>C (n.*63G>C)
c.54-975G>C
c.927G>C (p.Leu309Phe)
c.1011G>C (p.Leu337Phe)
c.567G>C (p.Leu189Phe)
17g.7670665C>TCA497712558TP53c.1044G>A (p.Leu348=)
c.648G>A (p.Leu216=)
c.765G>A (p.Leu255=)
c.1023G>A (p.Leu341=)
c.993+2870G>A (n.993+2870G>A)
c.782+3516G>A (n.782+3516G>A)
c.*151G>A (n.*151G>A)
c.*63G>A (n.*63G>A)
c.54-975G>A
c.927G>A (p.Leu309=)
c.1011G>A (p.Leu337=)
c.567G>A (p.Leu189=)
ClinVar dbSNP
17g.7670666A>CCA397832394TP53c.1043T>G (p.Leu348Trp)
c.647T>G (p.Leu216Trp)
c.764T>G (p.Leu255Trp)
c.1022T>G (p.Leu341Trp)
c.993+2869T>G (n.993+2869T>G)
c.782+3515T>G (n.782+3515T>G)
c.*150T>G (n.*150T>G)
c.*62T>G (n.*62T>G)
c.54-976T>G
c.926T>G (p.Leu309Trp)
c.1010T>G (p.Leu337Trp)
c.566T>G (p.Leu189Trp)
COSMIC COSMIC
17g.7670666A>GCA397832401TP53c.1043T>C (p.Leu348Ser)
c.647T>C (p.Leu216Ser)
c.764T>C (p.Leu255Ser)
c.1022T>C (p.Leu341Ser)
c.993+2869T>C (n.993+2869T>C)
c.782+3515T>C (n.782+3515T>C)
c.*150T>C (n.*150T>C)
c.*62T>C (n.*62T>C)
c.54-976T>C
c.926T>C (p.Leu309Ser)
c.1010T>C (p.Leu337Ser)
c.566T>C (p.Leu189Ser)
ClinVar dbSNP
17g.7670666A>TCA397832404TP53c.1043T>A (p.Leu348Ter)
c.647T>A (p.Leu216Ter)
c.764T>A (p.Leu255Ter)
c.1022T>A (p.Leu341Ter)
c.993+2869T>A (n.993+2869T>A)
c.782+3515T>A (n.782+3515T>A)
c.*150T>A (n.*150T>A)
c.*62T>A (n.*62T>A)
c.54-976T>A
c.926T>A (p.Leu309Ter)
c.1010T>A (p.Leu337Ter)
c.566T>A (p.Leu189Ter)
dbSNP COSMIC COSMIC
17g.7670667delCA2499224951TP53c.1043del (p.Leu348TrpfsTer22)
c.647del (p.Leu216TrpfsTer22)
c.764del (p.Leu255TrpfsTer22)
c.1022del (p.Leu341TrpfsTer22)
c.993+2869del (n.993+2869del)
c.782+3515del (n.782+3515del)
c.*150del (n.*150del)
c.*62del (n.*62del)
c.54-976del
c.926del (p.Leu309TrpfsTer22)
c.1010del (p.Leu337TrpfsTer22)
c.566del (p.Leu189TrpfsTer22)
c.926del (p.Leu309TrpfsTer?)
ClinVar dbSNP
17g.7670667A=CA2245942743TP53c.1042T= (p.Leu348=)
c.646T= (p.Leu216=)
c.763T= (p.Leu255=)
c.1021T= (p.Leu341=)
c.993+2868T= (n.993+2868T=)
c.782+3514T= (n.782+3514T=)
c.*149T= (n.*149T=)
c.*61T= (n.*61T=)
c.54-977T=
c.925T= (p.Leu309=)
c.1009T= (p.Leu337=)
c.565T= (p.Leu189=)
17g.7670667A>CCA16615934TP53c.1042T>G (p.Leu348Val)
c.646T>G (p.Leu216Val)
c.763T>G (p.Leu255Val)
c.1021T>G (p.Leu341Val)
c.993+2868T>G (n.993+2868T>G)
c.782+3514T>G (n.782+3514T>G)
c.*149T>G (n.*149T>G)
c.*61T>G (n.*61T>G)
c.54-977T>G
c.925T>G (p.Leu309Val)
c.1009T>G (p.Leu337Val)
c.565T>G (p.Leu189Val)
ClinVar dbSNP
17g.7670667A>GCA497712561TP53c.1042T>C (p.Leu348=)
c.646T>C (p.Leu216=)
c.763T>C (p.Leu255=)
c.1021T>C (p.Leu341=)
c.993+2868T>C (n.993+2868T>C)
c.782+3514T>C (n.782+3514T>C)
c.*149T>C (n.*149T>C)
c.*61T>C (n.*61T>C)
c.54-977T>C
c.925T>C (p.Leu309=)
c.1009T>C (p.Leu337=)
c.565T>C (p.Leu189=)
17g.7670667A>TCA397832417TP53c.1042T>A (p.Leu348Met)
c.646T>A (p.Leu216Met)
c.763T>A (p.Leu255Met)
c.1021T>A (p.Leu341Met)
c.993+2868T>A (n.993+2868T>A)
c.782+3514T>A (n.782+3514T>A)
c.*149T>A (n.*149T>A)
c.*61T>A (n.*61T>A)
c.54-977T>A
c.925T>A (p.Leu309Met)
c.1009T>A (p.Leu337Met)
c.565T>A (p.Leu189Met)
dbSNP
17g.7670672_7670673insTAGGCCTCA645587299TP53c.1042_1043insAAGGCCT (p.Leu348Ter)
c.646_647insAAGGCCT (p.Leu216Ter)
c.763_764insAAGGCCT (p.Leu255Ter)
c.1021_1022insAAGGCCT (p.Leu341Ter)
c.993+2868_993+2869insAAGGCCT (n.993+2868_993+2869insAAGGCCT)
c.782+3514_782+3515insAAGGCCT (n.782+3514_782+3515insAAGGCCT)
c.*149_*150insAAGGCCT (n.*149_*150insAAGGCCT)
c.*61_*62insAAGGCCT (n.*61_*62insAAGGCCT)
c.54-977_54-976insAAGGCCT
c.925_926insAAGGCCT (p.Leu309Ter)
c.1009_1010insAAGGCCT (p.Leu337Ter)
c.565_566insAAGGCCT (p.Leu189Ter)
COSMIC
17g.7670667_7670679delCA645587298TP53c.1030_1042del (p.Leu344TrpfsTer22)
c.634_646del (p.Leu212TrpfsTer22)
c.751_763del (p.Leu251TrpfsTer22)
c.1009_1021del (p.Leu337TrpfsTer22)
c.993+2856_993+2868del (n.993+2856_993+2868del)
c.782+3502_782+3514del (n.782+3502_782+3514del)
c.*137_*149del (n.*137_*149del)
c.*49_*61del (n.*49_*61del)
c.54-989_54-977del
c.913_925del (p.Leu305TrpfsTer22)
c.997_1009del (p.Leu333TrpfsTer22)
c.553_565del (p.Leu185TrpfsTer22)
c.913_925del (p.Leu305TrpfsTer?)
COSMIC
17g.7670668G>ACA497712567TP53c.1041C>T (p.Ala347=)
c.645C>T (p.Ala215=)
c.762C>T (p.Ala254=)
c.1020C>T (p.Ala340=)
c.993+2867C>T (n.993+2867C>T)
c.782+3513C>T (n.782+3513C>T)
c.*148C>T (n.*148C>T)
c.*60C>T (n.*60C>T)
c.54-978C>T
c.924C>T (p.Ala308=)
c.1008C>T (p.Ala336=)
c.564C>T (p.Ala188=)
ClinVar dbSNP gnomAD v2
17g.7670668G>CCA497712566TP53c.1041C>G (p.Ala347=)
c.645C>G (p.Ala215=)
c.762C>G (p.Ala254=)
c.1020C>G (p.Ala340=)
c.993+2867C>G (n.993+2867C>G)
c.782+3513C>G (n.782+3513C>G)
c.*148C>G (n.*148C>G)
c.*60C>G (n.*60C>G)
c.54-978C>G
c.924C>G (p.Ala308=)
c.1008C>G (p.Ala336=)
c.564C>G (p.Ala188=)
ClinVar dbSNP
17g.7670668G=CA2245942752TP53c.1041C= (p.Ala347=)
c.645C= (p.Ala215=)
c.762C= (p.Ala254=)
c.1020C= (p.Ala340=)
c.993+2867C= (n.993+2867C=)
c.782+3513C= (n.782+3513C=)
c.*148C= (n.*148C=)
c.*60C= (n.*60C=)
c.54-978C=
c.924C= (p.Ala308=)
c.1008C= (p.Ala336=)
c.564C= (p.Ala188=)
17g.7670668G>TCA497712568TP53c.1041C>A (p.Ala347=)
c.645C>A (p.Ala215=)
c.762C>A (p.Ala254=)
c.1020C>A (p.Ala340=)
c.993+2867C>A (n.993+2867C>A)
c.782+3513C>A (n.782+3513C>A)
c.*148C>A (n.*148C>A)
c.*60C>A (n.*60C>A)
c.54-978C>A
c.924C>A (p.Ala308=)
c.1008C>A (p.Ala336=)
c.564C>A (p.Ala188=)
dbSNP
17g.7670669delCA497712564TP53c.1041del (p.Leu348TrpfsTer22)
c.645del (p.Leu216TrpfsTer22)
c.762del (p.Leu255TrpfsTer22)
c.1020del (p.Leu341TrpfsTer22)
c.993+2867del (n.993+2867del)
c.782+3513del (n.782+3513del)
c.*148del (n.*148del)
c.*60del (n.*60del)
c.54-978del
c.924del (p.Leu309TrpfsTer22)
c.1008del (p.Leu337TrpfsTer22)
c.564del (p.Leu189TrpfsTer22)
c.924del (p.Leu309TrpfsTer?)
COSMIC
17g.7670669G>ACA16620609TP53c.1040C>T (p.Ala347Val)
c.644C>T (p.Ala215Val)
c.761C>T (p.Ala254Val)
c.1019C>T (p.Ala340Val)
c.993+2866C>T (n.993+2866C>T)
c.782+3512C>T (n.782+3512C>T)
c.*147C>T (n.*147C>T)
c.*59C>T (n.*59C>T)
c.54-979C>T
c.923C>T (p.Ala308Val)
c.1007C>T (p.Ala336Val)
c.563C>T (p.Ala188Val)
ClinVar dbSNP
17g.7670669G>CCA397832423TP53c.1040C>G (p.Ala347Gly)
c.644C>G (p.Ala215Gly)
c.761C>G (p.Ala254Gly)
c.1019C>G (p.Ala340Gly)
c.993+2866C>G (n.993+2866C>G)
c.782+3512C>G (n.782+3512C>G)
c.*147C>G (n.*147C>G)
c.*59C>G (n.*59C>G)
c.54-979C>G
c.923C>G (p.Ala308Gly)
c.1007C>G (p.Ala336Gly)
c.563C>G (p.Ala188Gly)
ClinVar dbSNP COSMIC
17g.7670669G=CA2245942767TP53c.1040C= (p.Ala347=)
c.644C= (p.Ala215=)
c.761C= (p.Ala254=)
c.1019C= (p.Ala340=)
c.993+2866C= (n.993+2866C=)
c.782+3512C= (n.782+3512C=)
c.*147C= (n.*147C=)
c.*59C= (n.*59C=)
c.54-979C=
c.923C= (p.Ala308=)
c.1007C= (p.Ala336=)
c.563C= (p.Ala188=)
17g.7670669G>TCA000022TP53c.1040C>A (p.Ala347Asp)
c.644C>A (p.Ala215Asp)
c.761C>A (p.Ala254Asp)
c.1019C>A (p.Ala340Asp)
c.993+2866C>A (n.993+2866C>A)
c.782+3512C>A (n.782+3512C>A)
c.*147C>A (n.*147C>A)
c.*59C>A (n.*59C>A)
c.54-979C>A
c.923C>A (p.Ala308Asp)
c.1007C>A (p.Ala336Asp)
c.563C>A (p.Ala188Asp)
ClinVar dbSNP
17g.7670669_7670670delinsAACA2580094845TP53c.1039_1040delinsTT (p.Ala347Phe)
c.643_644delinsTT (p.Ala215Phe)
c.760_761delinsTT (p.Ala254Phe)
c.1018_1019delinsTT (p.Ala340Phe)
c.993+2865_993+2866delinsTT (n.993+2865_993+2866delinsTT)
c.782+3511_782+3512delinsTT (n.782+3511_782+3512delinsTT)
c.*146_*147delinsTT (n.*146_*147delinsTT)
c.*58_*59delinsTT (n.*58_*59delinsTT)
c.54-980_54-979delinsTT
c.922_923delinsTT (p.Ala308Phe)
c.1006_1007delinsTT (p.Ala336Phe)
c.562_563delinsTT (p.Ala188Phe)
ClinVar
17g.7670669_7670671delCA2695224215TP53c.1038_1040del (p.Glu346_Ala347delinsAsp)
c.642_644del (p.Glu214_Ala215delinsAsp)
c.759_761del (p.Glu253_Ala254delinsAsp)
c.1017_1019del (p.Glu339_Ala340delinsAsp)
c.993+2864_993+2866del (n.993+2864_993+2866del)
c.782+3510_782+3512del (n.782+3510_782+3512del)
c.*145_*147del (n.*145_*147del)
c.*57_*59del (n.*57_*59del)
c.54-981_54-979del
c.921_923del (p.Glu307_Ala308delinsAsp)
c.1005_1007del (p.Glu335_Ala336delinsAsp)
c.561_563del (p.Glu187_Ala188delinsAsp)
17g.7670671_7670680delCA645587300TP53c.1031_1040del (p.Leu344ProfsTer23)
c.635_644del (p.Leu212ProfsTer23)
c.752_761del (p.Leu251ProfsTer23)
c.1010_1019del (p.Leu337ProfsTer23)
c.993+2857_993+2866del (n.993+2857_993+2866del)
c.782+3503_782+3512del (n.782+3503_782+3512del)
c.*138_*147del (n.*138_*147del)
c.*50_*59del (n.*50_*59del)
c.54-988_54-979del
c.914_923del (p.Leu305ProfsTer23)
c.998_1007del (p.Leu333ProfsTer23)
c.554_563del (p.Leu185ProfsTer23)
c.914_923del (p.Leu305ProfsTer?)
COSMIC COSMIC
17g.7670670C>ACA397832426TP53c.1039G>T (p.Ala347Ser)
c.643G>T (p.Ala215Ser)
c.760G>T (p.Ala254Ser)
c.1018G>T (p.Ala340Ser)
c.993+2865G>T (n.993+2865G>T)
c.782+3511G>T (n.782+3511G>T)
c.*146G>T (n.*146G>T)
c.*58G>T (n.*58G>T)
c.54-980G>T
c.922G>T (p.Ala308Ser)
c.1006G>T (p.Ala336Ser)
c.562G>T (p.Ala188Ser)
ClinVar dbSNP
17g.7670670C=CA2245942772TP53c.1039G= (p.Ala347=)
c.643G= (p.Ala215=)
c.760G= (p.Ala254=)
c.1018G= (p.Ala340=)
c.993+2865G= (n.993+2865G=)
c.782+3511G= (n.782+3511G=)
c.*146G= (n.*146G=)
c.*58G= (n.*58G=)
c.54-980G=
c.922G= (p.Ala308=)
c.1006G= (p.Ala336=)
c.562G= (p.Ala188=)
17g.7670670C>GCA397832440TP53c.1039G>C (p.Ala347Pro)
c.643G>C (p.Ala215Pro)
c.760G>C (p.Ala254Pro)
c.1018G>C (p.Ala340Pro)
c.993+2865G>C (n.993+2865G>C)
c.782+3511G>C (n.782+3511G>C)
c.*146G>C (n.*146G>C)
c.*58G>C (n.*58G>C)
c.54-980G>C
c.922G>C (p.Ala308Pro)
c.1006G>C (p.Ala336Pro)
c.562G>C (p.Ala188Pro)
dbSNP
17g.7670670C>TCA397832443TP53c.1039G>A (p.Ala347Thr)
c.643G>A (p.Ala215Thr)
c.760G>A (p.Ala254Thr)
c.1018G>A (p.Ala340Thr)
c.993+2865G>A (n.993+2865G>A)
c.782+3511G>A (n.782+3511G>A)
c.*146G>A (n.*146G>A)
c.*58G>A (n.*58G>A)
c.54-980G>A
c.922G>A (p.Ala308Thr)
c.1006G>A (p.Ala336Thr)
c.562G>A (p.Ala188Thr)
ClinVar dbSNP COSMIC COSMIC
17g.7670671delCA1139768343TP53c.1039del (p.Ala347ProfsTer23)
c.643del (p.Ala215ProfsTer23)
c.760del (p.Ala254ProfsTer23)
c.1018del (p.Ala340ProfsTer23)
c.993+2865del (n.993+2865del)
c.782+3511del (n.782+3511del)
c.*146del (n.*146del)
c.*58del (n.*58del)
c.54-980del
c.922del (p.Ala308ProfsTer23)
c.1006del (p.Ala336ProfsTer23)
c.562del (p.Ala188ProfsTer23)
c.922del (p.Ala308ProfsTer?)
ClinVar
17g.7670671C>ACA397832446TP53c.1038G>T (p.Glu346Asp)
c.642G>T (p.Glu214Asp)
c.759G>T (p.Glu253Asp)
c.1017G>T (p.Glu339Asp)
c.993+2864G>T (n.993+2864G>T)
c.782+3510G>T (n.782+3510G>T)
c.*145G>T (n.*145G>T)
c.*57G>T (n.*57G>T)
c.54-981G>T
c.921G>T (p.Glu307Asp)
c.1005G>T (p.Glu335Asp)
c.561G>T (p.Glu187Asp)
dbSNP
17g.7670671C=CA2245942783TP53c.1038G= (p.Glu346=)
c.642G= (p.Glu214=)
c.759G= (p.Glu253=)
c.1017G= (p.Glu339=)
c.993+2864G= (n.993+2864G=)
c.782+3510G= (n.782+3510G=)
c.*145G= (n.*145G=)
c.*57G= (n.*57G=)
c.54-981G=
c.921G= (p.Glu307=)
c.1005G= (p.Glu335=)
c.561G= (p.Glu187=)
17g.7670671C>GCA397832451TP53c.1038G>C (p.Glu346Asp)
c.642G>C (p.Glu214Asp)
c.759G>C (p.Glu253Asp)
c.1017G>C (p.Glu339Asp)
c.993+2864G>C (n.993+2864G>C)
c.782+3510G>C (n.782+3510G>C)
c.*145G>C (n.*145G>C)
c.*57G>C (n.*57G>C)
c.54-981G>C
c.921G>C (p.Glu307Asp)
c.1005G>C (p.Glu335Asp)
c.561G>C (p.Glu187Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7670671C>TCA497712572TP53c.1038G>A (p.Glu346=)
c.642G>A (p.Glu214=)
c.759G>A (p.Glu253=)
c.1017G>A (p.Glu339=)
c.993+2864G>A (n.993+2864G>A)
c.782+3510G>A (n.782+3510G>A)
c.*145G>A (n.*145G>A)
c.*57G>A (n.*57G>A)
c.54-981G>A
c.921G>A (p.Glu307=)
c.1005G>A (p.Glu335=)
c.561G>A (p.Glu187=)
ClinVar dbSNP
17g.7670672T>ACA397832452TP53c.1037A>T (p.Glu346Val)
c.641A>T (p.Glu214Val)
c.758A>T (p.Glu253Val)
c.1016A>T (p.Glu339Val)
c.993+2863A>T (n.993+2863A>T)
c.782+3509A>T (n.782+3509A>T)
c.*144A>T (n.*144A>T)
c.*56A>T (n.*56A>T)
c.54-982A>T
c.920A>T (p.Glu307Val)
c.1004A>T (p.Glu335Val)
c.560A>T (p.Glu187Val)
dbSNP
17g.7670672T>CCA397832453TP53c.1037A>G (p.Glu346Gly)
c.641A>G (p.Glu214Gly)
c.758A>G (p.Glu253Gly)
c.1016A>G (p.Glu339Gly)
c.993+2863A>G (n.993+2863A>G)
c.782+3509A>G (n.782+3509A>G)
c.*144A>G (n.*144A>G)
c.*56A>G (n.*56A>G)
c.54-982A>G
c.920A>G (p.Glu307Gly)
c.1004A>G (p.Glu335Gly)
c.560A>G (p.Glu187Gly)
ClinVar dbSNP gnomAD v4
17g.7670672T>GCA397832454TP53c.1037A>C (p.Glu346Ala)
c.641A>C (p.Glu214Ala)
c.758A>C (p.Glu253Ala)
c.1016A>C (p.Glu339Ala)
c.993+2863A>C (n.993+2863A>C)
c.782+3509A>C (n.782+3509A>C)
c.*144A>C (n.*144A>C)
c.*56A>C (n.*56A>C)
c.54-982A>C
c.920A>C (p.Glu307Ala)
c.1004A>C (p.Glu335Ala)
c.560A>C (p.Glu187Ala)
COSMIC
17g.7670672_7670673delinsTCCA2245942796TP53c.1036_1037delinsGA (p.Glu346=)
c.640_641delinsGA (p.Glu214=)
c.757_758delinsGA (p.Glu253=)
c.1015_1016delinsGA (p.Glu339=)
c.993+2862_993+2863delinsGA (n.993+2862_993+2863delinsGA)
c.782+3508_782+3509delinsGA (n.782+3508_782+3509delinsGA)
c.*143_*144delinsGA (n.*143_*144delinsGA)
c.*55_*56delinsGA (n.*55_*56delinsGA)
c.54-983_54-982delinsGA
c.919_920delinsGA (p.Glu307=)
c.1003_1004delinsGA (p.Glu335=)
c.559_560delinsGA (p.Glu187=)
17g.7670673delCA913190570TP53c.1036del (p.Glu346ArgfsTer24)
c.640del (p.Glu214ArgfsTer24)
c.757del (p.Glu253ArgfsTer24)
c.1015del (p.Glu339ArgfsTer24)
c.993+2862del (n.993+2862del)
c.782+3508del (n.782+3508del)
c.*143del (n.*143del)
c.*55del (n.*55del)
c.54-983del
c.919del (p.Glu307ArgfsTer24)
c.1003del (p.Glu335ArgfsTer24)
c.559del (p.Glu187ArgfsTer24)
c.919del (p.Glu307ArgfsTer?)
ClinVar dbSNP
17g.7670673C>ACA397832461TP53c.1036G>T (p.Glu346Ter)
c.640G>T (p.Glu214Ter)
c.757G>T (p.Glu253Ter)
c.1015G>T (p.Glu339Ter)
c.993+2862G>T (n.993+2862G>T)
c.782+3508G>T (n.782+3508G>T)
c.*143G>T (n.*143G>T)
c.*55G>T (n.*55G>T)
c.54-983G>T
c.919G>T (p.Glu307Ter)
c.1003G>T (p.Glu335Ter)
c.559G>T (p.Glu187Ter)
ClinVar dbSNP COSMIC COSMIC
17g.7670673C=CA2245942812TP53c.1036G= (p.Glu346=)
c.640G= (p.Glu214=)
c.757G= (p.Glu253=)
c.1015G= (p.Glu339=)
c.993+2862G= (n.993+2862G=)
c.782+3508G= (n.782+3508G=)
c.*143G= (n.*143G=)
c.*55G= (n.*55G=)
c.54-983G=
c.919G= (p.Glu307=)
c.1003G= (p.Glu335=)
c.559G= (p.Glu187=)
17g.7670673C>GCA397832457TP53c.1036G>C (p.Glu346Gln)
c.640G>C (p.Glu214Gln)
c.757G>C (p.Glu253Gln)
c.1015G>C (p.Glu339Gln)
c.993+2862G>C (n.993+2862G>C)
c.782+3508G>C (n.782+3508G>C)
c.*143G>C (n.*143G>C)
c.*55G>C (n.*55G>C)
c.54-983G>C
c.919G>C (p.Glu307Gln)
c.1003G>C (p.Glu335Gln)
c.559G>C (p.Glu187Gln)
dbSNP
17g.7670673C>TCA397832455TP53c.1036G>A (p.Glu346Lys)
c.640G>A (p.Glu214Lys)
c.757G>A (p.Glu253Lys)
c.1015G>A (p.Glu339Lys)
c.993+2862G>A (n.993+2862G>A)
c.782+3508G>A (n.782+3508G>A)
c.*143G>A (n.*143G>A)
c.*55G>A (n.*55G>A)
c.54-983G>A
c.919G>A (p.Glu307Lys)
c.1003G>A (p.Glu335Lys)
c.559G>A (p.Glu187Lys)
ClinVar dbSNP gnomAD v4
17g.7670674A>CCA397832471TP53c.1035T>G (p.Asn345Lys)
c.639T>G (p.Asn213Lys)
c.756T>G (p.Asn252Lys)
c.1014T>G (p.Asn338Lys)
c.993+2861T>G (n.993+2861T>G)
c.782+3507T>G (n.782+3507T>G)
c.*142T>G (n.*142T>G)
c.*54T>G (n.*54T>G)
c.54-984T>G
c.918T>G (p.Asn306Lys)
c.1002T>G (p.Asn334Lys)
c.558T>G (p.Asn186Lys)
17g.7670674A>GCA497712579TP53c.1035T>C (p.Asn345=)
c.639T>C (p.Asn213=)
c.756T>C (p.Asn252=)
c.1014T>C (p.Asn338=)
c.993+2861T>C (n.993+2861T>C)
c.782+3507T>C (n.782+3507T>C)
c.*142T>C (n.*142T>C)
c.*54T>C (n.*54T>C)
c.54-984T>C
c.918T>C (p.Asn306=)
c.1002T>C (p.Asn334=)
c.558T>C (p.Asn186=)
gnomAD v4
17g.7670674A>TCA397832473TP53c.1035T>A (p.Asn345Lys)
c.639T>A (p.Asn213Lys)
c.756T>A (p.Asn252Lys)
c.1014T>A (p.Asn338Lys)
c.993+2861T>A (n.993+2861T>A)
c.782+3507T>A (n.782+3507T>A)
c.*142T>A (n.*142T>A)
c.*54T>A (n.*54T>A)
c.54-984T>A
c.918T>A (p.Asn306Lys)
c.1002T>A (p.Asn334Lys)
c.558T>A (p.Asn186Lys)
dbSNP
17g.7670674_7670682delinsATTCAGCTCCA2245942816TP53c.1027_1035delinsGAGCTGAAT (p.Glu343=)
c.631_639delinsGAGCTGAAT (p.Glu211=)
c.748_756delinsGAGCTGAAT (p.Glu250=)
c.1006_1014delinsGAGCTGAAT (p.Glu336=)
c.993+2853_993+2861delinsGAGCTGAAT (n.993+2853_993+2861delinsGAGCTGAAT)
c.782+3499_782+3507delinsGAGCTGAAT (n.782+3499_782+3507delinsGAGCTGAAT)
c.*134_*142delinsGAGCTGAAT (n.*134_*142delinsGAGCTGAAT)
c.*46_*54delinsGAGCTGAAT (n.*46_*54delinsGAGCTGAAT)
c.54-992_54-984delinsGAGCTGAAT
c.910_918delinsGAGCTGAAT (p.Glu304=)
c.994_1002delinsGAGCTGAAT (p.Glu332=)
c.550_558delinsGAGCTGAAT (p.Glu184=)
17g.7670674_7670685delCA645587301TP53c.1024_1035del (p.Arg342_Asn345del)
c.628_639del (p.Arg210_Asn213del)
c.745_756del (p.Arg249_Asn252del)
c.1003_1014del (p.Arg335_Asn338del)
c.993+2850_993+2861del (n.993+2850_993+2861del)
c.782+3496_782+3507del (n.782+3496_782+3507del)
c.*131_*142del (n.*131_*142del)
c.*43_*54del (n.*43_*54del)
c.54-995_54-984del
c.907_918del (p.Arg303_Asn306del)
c.991_1002del (p.Arg331_Asn334del)
c.547_558del (p.Arg183_Asn186del)
COSMIC
17g.7670675T>ACA397832480TP53c.1034A>T (p.Asn345Ile)
c.638A>T (p.Asn213Ile)
c.755A>T (p.Asn252Ile)
c.1013A>T (p.Asn338Ile)
c.993+2860A>T (n.993+2860A>T)
c.782+3506A>T (n.782+3506A>T)
c.*141A>T (n.*141A>T)
c.*53A>T (n.*53A>T)
c.54-985A>T
c.917A>T (p.Asn306Ile)
c.1001A>T (p.Asn334Ile)
c.557A>T (p.Asn186Ile)
COSMIC COSMIC
17g.7670675T>CCA397832487TP53c.1034A>G (p.Asn345Ser)
c.638A>G (p.Asn213Ser)
c.755A>G (p.Asn252Ser)
c.1013A>G (p.Asn338Ser)
c.993+2860A>G (n.993+2860A>G)
c.782+3506A>G (n.782+3506A>G)
c.*141A>G (n.*141A>G)
c.*53A>G (n.*53A>G)
c.54-985A>G
c.917A>G (p.Asn306Ser)
c.1001A>G (p.Asn334Ser)
c.557A>G (p.Asn186Ser)
17g.7670675T>GCA397832489TP53c.1034A>C (p.Asn345Thr)
c.638A>C (p.Asn213Thr)
c.755A>C (p.Asn252Thr)
c.1013A>C (p.Asn338Thr)
c.993+2860A>C (n.993+2860A>C)
c.782+3506A>C (n.782+3506A>C)
c.*141A>C (n.*141A>C)
c.*53A>C (n.*53A>C)
c.54-985A>C
c.917A>C (p.Asn306Thr)
c.1001A>C (p.Asn334Thr)
c.557A>C (p.Asn186Thr)
17g.7670676delCA497712584TP53c.1034del (p.Asn345MetfsTer25)
c.638del (p.Asn213MetfsTer25)
c.755del (p.Asn252MetfsTer25)
c.1013del (p.Asn338MetfsTer25)
c.993+2860del (n.993+2860del)
c.782+3506del (n.782+3506del)
c.*141del (n.*141del)
c.*53del (n.*53del)
c.54-985del
c.917del (p.Asn306MetfsTer25)
c.1001del (p.Asn334MetfsTer25)
c.557del (p.Asn186MetfsTer25)
c.917del (p.Asn306MetfsTer?)
COSMIC
17g.7670676_7670683delCA913190571TP53c.1027_1034del (p.Glu343Ter)
c.631_638del (p.Glu211Ter)
c.748_755del (p.Glu250Ter)
c.1006_1013del (p.Glu336Ter)
c.993+2853_993+2860del (n.993+2853_993+2860del)
c.782+3499_782+3506del (n.782+3499_782+3506del)
c.*134_*141del (n.*134_*141del)
c.*46_*53del (n.*46_*53del)
c.54-992_54-985del
c.910_917del (p.Glu304Ter)
c.994_1001del (p.Glu332Ter)
c.550_557del (p.Glu184Ter)
ClinVar dbSNP
17g.7670675_7670684dupCA645587302TP53c.1025_1034dup (p.Asn345LysfsTer5)
c.629_638dup (p.Asn213LysfsTer5)
c.746_755dup (p.Asn252LysfsTer5)
c.1004_1013dup (p.Asn338LysfsTer5)
c.993+2851_993+2860dup (n.993+2851_993+2860dup)
c.782+3497_782+3506dup (n.782+3497_782+3506dup)
c.*132_*141dup (n.*132_*141dup)
c.*44_*53dup (n.*44_*53dup)
c.54-994_54-985dup
c.908_917dup (p.Asn306LysfsTer5)
c.992_1001dup (p.Asn334LysfsTer5)
c.548_557dup (p.Asn186LysfsTer5)
COSMIC COSMIC
17g.7670676T>ACA397832491TP53c.1033A>T (p.Asn345Tyr)
c.637A>T (p.Asn213Tyr)
c.754A>T (p.Asn252Tyr)
c.1012A>T (p.Asn338Tyr)
c.993+2859A>T (n.993+2859A>T)
c.782+3505A>T (n.782+3505A>T)
c.*140A>T (n.*140A>T)
c.*52A>T (n.*52A>T)
c.54-986A>T
c.916A>T (p.Asn306Tyr)
c.1000A>T (p.Asn334Tyr)
c.556A>T (p.Asn186Tyr)
dbSNP
17g.7670676T>CCA397832493TP53c.1033A>G (p.Asn345Asp)
c.637A>G (p.Asn213Asp)
c.754A>G (p.Asn252Asp)
c.1012A>G (p.Asn338Asp)
c.993+2859A>G (n.993+2859A>G)
c.782+3505A>G (n.782+3505A>G)
c.*140A>G (n.*140A>G)
c.*52A>G (n.*52A>G)
c.54-986A>G
c.916A>G (p.Asn306Asp)
c.1000A>G (p.Asn334Asp)
c.556A>G (p.Asn186Asp)
COSMIC COSMIC
17g.7670676T>GCA397832498TP53c.1033A>C (p.Asn345His)
c.637A>C (p.Asn213His)
c.754A>C (p.Asn252His)
c.1012A>C (p.Asn338His)
c.993+2859A>C (n.993+2859A>C)
c.782+3505A>C (n.782+3505A>C)
c.*140A>C (n.*140A>C)
c.*52A>C (n.*52A>C)
c.54-986A>C
c.916A>C (p.Asn306His)
c.1000A>C (p.Asn334His)
c.556A>C (p.Asn186His)
17g.7670676_7670677delCA645587303TP53c.1032_1033del (p.Asn345Ter)
c.636_637del (p.Asn213Ter)
c.753_754del (p.Asn252Ter)
c.1011_1012del (p.Asn338Ter)
c.993+2858_993+2859del (n.993+2858_993+2859del)
c.782+3504_782+3505del (n.782+3504_782+3505del)
c.*139_*140del (n.*139_*140del)
c.*51_*52del (n.*51_*52del)
c.54-987_54-986del
c.915_916del (p.Asn306Ter)
c.999_1000del (p.Asn334Ter)
c.555_556del (p.Asn186Ter)
COSMIC COSMIC
17g.7670677delCA497712589TP53c.1032del (p.Asn345MetfsTer25)
c.636del (p.Asn213MetfsTer25)
c.753del (p.Asn252MetfsTer25)
c.1011del (p.Asn338MetfsTer25)
c.993+2858del (n.993+2858del)
c.782+3504del (n.782+3504del)
c.*139del (n.*139del)
c.*51del (n.*51del)
c.54-987del
c.915del (p.Asn306MetfsTer25)
c.999del (p.Asn334MetfsTer25)
c.555del (p.Asn186MetfsTer25)
c.915del (p.Asn306MetfsTer?)
COSMIC
17g.7670677C>ACA497712588TP53c.1032G>T (p.Leu344=)
c.636G>T (p.Leu212=)
c.753G>T (p.Leu251=)
c.1011G>T (p.Leu337=)
c.993+2858G>T (n.993+2858G>T)
c.782+3504G>T (n.782+3504G>T)
c.*139G>T (n.*139G>T)
c.*51G>T (n.*51G>T)
c.54-987G>T
c.915G>T (p.Leu305=)
c.999G>T (p.Leu333=)
c.555G>T (p.Leu185=)
17g.7670677C=CA2245942835TP53c.1032G= (p.Leu344=)
c.636G= (p.Leu212=)
c.753G= (p.Leu251=)
c.1011G= (p.Leu337=)
c.993+2858G= (n.993+2858G=)
c.782+3504G= (n.782+3504G=)
c.*139G= (n.*139G=)
c.*51G= (n.*51G=)
c.54-987G=
c.915G= (p.Leu305=)
c.999G= (p.Leu333=)
c.555G= (p.Leu185=)
17g.7670677C>GCA000829TP53c.1032G>C (p.Leu344=)
c.636G>C (p.Leu212=)
c.753G>C (p.Leu251=)
c.1011G>C (p.Leu337=)
c.993+2858G>C (n.993+2858G>C)
c.782+3504G>C (n.782+3504G>C)
c.*139G>C (n.*139G>C)
c.*51G>C (n.*51G>C)
c.54-987G>C
c.915G>C (p.Leu305=)
c.999G>C (p.Leu333=)
c.555G>C (p.Leu185=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.7670677C>TCA350737TP53c.1032G>A (p.Leu344=)
c.636G>A (p.Leu212=)
c.753G>A (p.Leu251=)
c.1011G>A (p.Leu337=)
c.993+2858G>A (n.993+2858G>A)
c.782+3504G>A (n.782+3504G>A)
c.*139G>A (n.*139G>A)
c.*51G>A (n.*51G>A)
c.54-987G>A
c.915G>A (p.Leu305=)
c.999G>A (p.Leu333=)
c.555G>A (p.Leu185=)
ClinVar dbSNP gnomAD v4
17g.7670678A=CA2245942844TP53c.1031T= (p.Leu344=)
c.635T= (p.Leu212=)
c.752T= (p.Leu251=)
c.1010T= (p.Leu337=)
c.993+2857T= (n.993+2857T=)
c.782+3503T= (n.782+3503T=)
c.*138T= (n.*138T=)
c.*50T= (n.*50T=)
c.54-988T=
c.914T= (p.Leu305=)
c.998T= (p.Leu333=)
c.554T= (p.Leu185=)
17g.7670678A>CCA397832502TP53c.1031T>G (p.Leu344Arg)
c.635T>G (p.Leu212Arg)
c.752T>G (p.Leu251Arg)
c.1010T>G (p.Leu337Arg)
c.993+2857T>G (n.993+2857T>G)
c.782+3503T>G (n.782+3503T>G)
c.*138T>G (n.*138T>G)
c.*50T>G (n.*50T>G)
c.54-988T>G
c.914T>G (p.Leu305Arg)
c.998T>G (p.Leu333Arg)
c.554T>G (p.Leu185Arg)
ClinVar COSMIC COSMIC
17g.7670678A>GCA000021TP53c.1031T>C (p.Leu344Pro)
c.635T>C (p.Leu212Pro)
c.752T>C (p.Leu251Pro)
c.1010T>C (p.Leu337Pro)
c.993+2857T>C (n.993+2857T>C)
c.782+3503T>C (n.782+3503T>C)
c.*138T>C (n.*138T>C)
c.*50T>C (n.*50T>C)
c.54-988T>C
c.914T>C (p.Leu305Pro)
c.998T>C (p.Leu333Pro)
c.554T>C (p.Leu185Pro)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.7670678A>TCA397832505TP53c.1031T>A (p.Leu344Gln)
c.635T>A (p.Leu212Gln)
c.752T>A (p.Leu251Gln)
c.1010T>A (p.Leu337Gln)
c.993+2857T>A (n.993+2857T>A)
c.782+3503T>A (n.782+3503T>A)
c.*138T>A (n.*138T>A)
c.*50T>A (n.*50T>A)
c.54-988T>A
c.914T>A (p.Leu305Gln)
c.998T>A (p.Leu333Gln)
c.554T>A (p.Leu185Gln)
dbSNP
17g.7670678_7670679insCTCA645587304TP53c.1030_1031insAG (p.Leu344GlnfsTer2)
c.634_635insAG (p.Leu212GlnfsTer2)
c.751_752insAG (p.Leu251GlnfsTer2)
c.1009_1010insAG (p.Leu337GlnfsTer2)
c.993+2856_993+2857insAG (n.993+2856_993+2857insAG)
c.782+3502_782+3503insAG (n.782+3502_782+3503insAG)
c.*137_*138insAG (n.*137_*138insAG)
c.*49_*50insAG (n.*49_*50insAG)
c.54-989_54-988insAG
c.913_914insAG (p.Leu305GlnfsTer2)
c.997_998insAG (p.Leu333GlnfsTer2)
c.553_554insAG (p.Leu185GlnfsTer2)
COSMIC COSMIC
17g.7670679G>ACA497712593TP53c.1030C>T (p.Leu344=)
c.634C>T (p.Leu212=)
c.751C>T (p.Leu251=)
c.1009C>T (p.Leu337=)
c.993+2856C>T (n.993+2856C>T)
c.782+3502C>T (n.782+3502C>T)
c.*137C>T (n.*137C>T)
c.*49C>T (n.*49C>T)
c.54-989C>T
c.913C>T (p.Leu305=)
c.997C>T (p.Leu333=)
c.553C>T (p.Leu185=)
ClinVar dbSNP gnomAD v4
17g.7670679G>CCA397832512TP53c.1030C>G (p.Leu344Val)
c.634C>G (p.Leu212Val)
c.751C>G (p.Leu251Val)
c.1009C>G (p.Leu337Val)
c.993+2856C>G (n.993+2856C>G)
c.782+3502C>G (n.782+3502C>G)
c.*137C>G (n.*137C>G)
c.*49C>G (n.*49C>G)
c.54-989C>G
c.913C>G (p.Leu305Val)
c.997C>G (p.Leu333Val)
c.553C>G (p.Leu185Val)
ClinVar dbSNP gnomAD v4
17g.7670679G=CA2245942854TP53c.1030C= (p.Leu344=)
c.634C= (p.Leu212=)
c.751C= (p.Leu251=)
c.1009C= (p.Leu337=)
c.993+2856C= (n.993+2856C=)
c.782+3502C= (n.782+3502C=)
c.*137C= (n.*137C=)
c.*49C= (n.*49C=)
c.54-989C=
c.913C= (p.Leu305=)
c.997C= (p.Leu333=)
c.553C= (p.Leu185=)
17g.7670679G>TCA397832507TP53c.1030C>A (p.Leu344Met)
c.634C>A (p.Leu212Met)
c.751C>A (p.Leu251Met)
c.1009C>A (p.Leu337Met)
c.993+2856C>A (n.993+2856C>A)
c.782+3502C>A (n.782+3502C>A)
c.*137C>A (n.*137C>A)
c.*49C>A (n.*49C>A)
c.54-989C>A
c.913C>A (p.Leu305Met)
c.997C>A (p.Leu333Met)
c.553C>A (p.Leu185Met)
ClinVar
17g.7670680C>ACA397832518TP53c.1029G>T (p.Glu343Asp)
c.633G>T (p.Glu211Asp)
c.750G>T (p.Glu250Asp)
c.1008G>T (p.Glu336Asp)
c.993+2855G>T (n.993+2855G>T)
c.782+3501G>T (n.782+3501G>T)
c.*136G>T (n.*136G>T)
c.*48G>T (n.*48G>T)
c.54-990G>T
c.912G>T (p.Glu304Asp)
c.996G>T (p.Glu332Asp)
c.552G>T (p.Glu184Asp)
17g.7670680C>GCA397832519TP53c.1029G>C (p.Glu343Asp)
c.633G>C (p.Glu211Asp)
c.750G>C (p.Glu250Asp)
c.1008G>C (p.Glu336Asp)
c.993+2855G>C (n.993+2855G>C)
c.782+3501G>C (n.782+3501G>C)
c.*136G>C (n.*136G>C)
c.*48G>C (n.*48G>C)
c.54-990G>C
c.912G>C (p.Glu304Asp)
c.996G>C (p.Glu332Asp)
c.552G>C (p.Glu184Asp)
ClinVar dbSNP
17g.7670680C>TCA497712597TP53c.1029G>A (p.Glu343=)
c.633G>A (p.Glu211=)
c.750G>A (p.Glu250=)
c.1008G>A (p.Glu336=)
c.993+2855G>A (n.993+2855G>A)
c.782+3501G>A (n.782+3501G>A)
c.*136G>A (n.*136G>A)
c.*48G>A (n.*48G>A)
c.54-990G>A
c.912G>A (p.Glu304=)
c.996G>A (p.Glu332=)
c.552G>A (p.Glu184=)
17g.7670683_7670684delCA645587305TP53c.1028_1029del (p.Glu343AlafsTer3)
c.632_633del (p.Glu211AlafsTer3)
c.749_750del (p.Glu250AlafsTer3)
c.1007_1008del (p.Glu336AlafsTer3)
c.993+2854_993+2855del (n.993+2854_993+2855del)
c.782+3500_782+3501del (n.782+3500_782+3501del)
c.*135_*136del (n.*135_*136del)
c.*47_*48del (n.*47_*48del)
c.54-991_54-990del
c.911_912del (p.Glu304AlafsTer3)
c.995_996del (p.Glu332AlafsTer3)
c.551_552del (p.Glu184AlafsTer3)
COSMIC COSMIC COSMIC
17g.7670680_7670690delinsCTCTCGGAACACA2245942865TP53c.1019_1029delinsTGTTCCGAGAG (p.Met340=)
c.623_633delinsTGTTCCGAGAG (p.Met208=)
c.740_750delinsTGTTCCGAGAG (p.Met247=)
c.998_1008delinsTGTTCCGAGAG (p.Met333=)
c.993+2845_993+2855delinsTGTTCCGAGAG (n.993+2845_993+2855delinsTGTTCCGAGAG)
c.782+3491_782+3501delinsTGTTCCGAGAG (n.782+3491_782+3501delinsTGTTCCGAGAG)
c.*126_*136delinsTGTTCCGAGAG (n.*126_*136delinsTGTTCCGAGAG)
c.*38_*48delinsTGTTCCGAGAG (n.*38_*48delinsTGTTCCGAGAG)
c.54-1000_54-990delinsTGTTCCGAGAG
c.902_912delinsTGTTCCGAGAG (p.Met301=)
c.986_996delinsTGTTCCGAGAG (p.Met329=)
c.542_552delinsTGTTCCGAGAG (p.Met181=)
17g.7670681delCA2580094851TP53c.1028del (p.Glu343GlyfsTer2)
c.632del (p.Glu211GlyfsTer2)
c.749del (p.Glu250GlyfsTer2)
c.1007del (p.Glu336GlyfsTer2)
c.993+2854del (n.993+2854del)
c.782+3500del (n.782+3500del)
c.*135del (n.*135del)
c.*47del (n.*47del)
c.54-991del
c.911del (p.Glu304GlyfsTer2)
c.995del (p.Glu332GlyfsTer2)
c.551del (p.Glu184GlyfsTer2)
ClinVar dbSNP
17g.7670681T>ACA397832521TP53c.1028A>T (p.Glu343Val)
c.632A>T (p.Glu211Val)
c.749A>T (p.Glu250Val)
c.1007A>T (p.Glu336Val)
c.993+2854A>T (n.993+2854A>T)
c.782+3500A>T (n.782+3500A>T)
c.*135A>T (n.*135A>T)
c.*47A>T (n.*47A>T)
c.54-991A>T
c.911A>T (p.Glu304Val)
c.995A>T (p.Glu332Val)
c.551A>T (p.Glu184Val)
dbSNP
17g.7670681T>CCA397832522TP53c.1028A>G (p.Glu343Gly)
c.632A>G (p.Glu211Gly)
c.749A>G (p.Glu250Gly)
c.1007A>G (p.Glu336Gly)
c.993+2854A>G (n.993+2854A>G)
c.782+3500A>G (n.782+3500A>G)
c.*135A>G (n.*135A>G)
c.*47A>G (n.*47A>G)
c.54-991A>G
c.911A>G (p.Glu304Gly)
c.995A>G (p.Glu332Gly)
c.551A>G (p.Glu184Gly)
gnomAD v4
17g.7670681T>GCA397832528TP53c.1028A>C (p.Glu343Ala)
c.632A>C (p.Glu211Ala)
c.749A>C (p.Glu250Ala)
c.1007A>C (p.Glu336Ala)
c.993+2854A>C (n.993+2854A>C)
c.782+3500A>C (n.782+3500A>C)
c.*135A>C (n.*135A>C)
c.*47A>C (n.*47A>C)
c.54-991A>C
c.911A>C (p.Glu304Ala)
c.995A>C (p.Glu332Ala)
c.551A>C (p.Glu184Ala)
17g.7670686_7670695delCA913188761TP53c.1019_1028del (p.Met340SerfsTer2)
c.623_632del (p.Met208SerfsTer2)
c.740_749del (p.Met247SerfsTer2)
c.998_1007del (p.Met333SerfsTer2)
c.993+2845_993+2854del (n.993+2845_993+2854del)
c.782+3491_782+3500del (n.782+3491_782+3500del)
c.*126_*135del (n.*126_*135del)
c.*38_*47del (n.*38_*47del)
c.54-1000_54-991del
c.902_911del (p.Met301SerfsTer2)
c.986_995del (p.Met329SerfsTer2)
c.542_551del (p.Met181SerfsTer2)
ClinVar dbSNP
17g.7670682C>ACA397832533TP53c.1027G>T (p.Glu343Ter)
c.631G>T (p.Glu211Ter)
c.748G>T (p.Glu250Ter)
c.1006G>T (p.Glu336Ter)
c.993+2853G>T (n.993+2853G>T)
c.782+3499G>T (n.782+3499G>T)
c.*134G>T (n.*134G>T)
c.*46G>T (n.*46G>T)
c.54-992G>T
c.910G>T (p.Glu304Ter)
c.994G>T (p.Glu332Ter)
c.550G>T (p.Glu184Ter)
dbSNP COSMIC COSMIC
17g.7670682C=CA2245942873TP53c.1027G= (p.Glu343=)
c.631G= (p.Glu211=)
c.748G= (p.Glu250=)
c.1006G= (p.Glu336=)
c.993+2853G= (n.993+2853G=)
c.782+3499G= (n.782+3499G=)
c.*134G= (n.*134G=)
c.*46G= (n.*46G=)
c.54-992G=
c.910G= (p.Glu304=)
c.994G= (p.Glu332=)
c.550G= (p.Glu184=)
17g.7670682C>GCA287485739TP53c.1027G>C (p.Glu343Gln)
c.631G>C (p.Glu211Gln)
c.748G>C (p.Glu250Gln)
c.1006G>C (p.Glu336Gln)
c.993+2853G>C (n.993+2853G>C)
c.782+3499G>C (n.782+3499G>C)
c.*134G>C (n.*134G>C)
c.*46G>C (n.*46G>C)
c.54-992G>C
c.910G>C (p.Glu304Gln)
c.994G>C (p.Glu332Gln)
c.550G>C (p.Glu184Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7670682C>TCA397832559TP53c.1027G>A (p.Glu343Lys)
c.631G>A (p.Glu211Lys)
c.748G>A (p.Glu250Lys)
c.1006G>A (p.Glu336Lys)
c.993+2853G>A (n.993+2853G>A)
c.782+3499G>A (n.782+3499G>A)
c.*134G>A (n.*134G>A)
c.*46G>A (n.*46G>A)
c.54-992G>A
c.910G>A (p.Glu304Lys)
c.994G>A (p.Glu332Lys)
c.550G>A (p.Glu184Lys)
dbSNP
17g.7670683T>ACA497712601TP53c.1026A>T (p.Arg342=)
c.630A>T (p.Arg210=)
c.747A>T (p.Arg249=)
c.1005A>T (p.Arg335=)
c.993+2852A>T (n.993+2852A>T)
c.782+3498A>T (n.782+3498A>T)
c.*133A>T (n.*133A>T)
c.*45A>T (n.*45A>T)
c.54-993A>T
c.909A>T (p.Arg303=)
c.993A>T (p.Arg331=)
c.549A>T (p.Arg183=)
dbSNP
17g.7670683T>CCA497712600TP53c.1026A>G (p.Arg342=)
c.630A>G (p.Arg210=)
c.747A>G (p.Arg249=)
c.1005A>G (p.Arg335=)
c.993+2852A>G (n.993+2852A>G)
c.782+3498A>G (n.782+3498A>G)
c.*133A>G (n.*133A>G)
c.*45A>G (n.*45A>G)
c.54-993A>G
c.909A>G (p.Arg303=)
c.993A>G (p.Arg331=)
c.549A>G (p.Arg183=)
ClinVar dbSNP
17g.7670683T>GCA497712599TP53c.1026A>C (p.Arg342=)
c.630A>C (p.Arg210=)
c.747A>C (p.Arg249=)
c.1005A>C (p.Arg335=)
c.993+2852A>C (n.993+2852A>C)
c.782+3498A>C (n.782+3498A>C)
c.*133A>C (n.*133A>C)
c.*45A>C (n.*45A>C)
c.54-993A>C
c.909A>C (p.Arg303=)
c.993A>C (p.Arg331=)
c.549A>C (p.Arg183=)
17g.7670684delCA497712603TP53c.1025del (p.Arg342GlnfsTer3)
c.629del (p.Arg210GlnfsTer3)
c.746del (p.Arg249GlnfsTer3)
c.1004del (p.Arg335GlnfsTer3)
c.993+2851del (n.993+2851del)
c.782+3497del (n.782+3497del)
c.*132del (n.*132del)
c.*44del (n.*44del)
c.54-994del
c.908del (p.Arg303GlnfsTer3)
c.992del (p.Arg331GlnfsTer3)
c.548del (p.Arg183GlnfsTer3)
COSMIC
17g.7670684C>ACA397832566TP53c.1025G>T (p.Arg342Leu)
c.629G>T (p.Arg210Leu)
c.746G>T (p.Arg249Leu)
c.1004G>T (p.Arg335Leu)
c.993+2851G>T (n.993+2851G>T)
c.782+3497G>T (n.782+3497G>T)
c.*132G>T (n.*132G>T)
c.*44G>T (n.*44G>T)
c.54-994G>T
c.908G>T (p.Arg303Leu)
c.992G>T (p.Arg331Leu)
c.548G>T (p.Arg183Leu)
ClinVar dbSNP gnomAD v4
17g.7670684C=CA2245942882TP53c.1025G= (p.Arg342=)
c.629G= (p.Arg210=)
c.746G= (p.Arg249=)
c.1004G= (p.Arg335=)
c.993+2851G= (n.993+2851G=)
c.782+3497G= (n.782+3497G=)
c.*132G= (n.*132G=)
c.*44G= (n.*44G=)
c.54-994G=
c.908G= (p.Arg303=)
c.992G= (p.Arg331=)
c.548G= (p.Arg183=)
17g.7670684C>GCA337802TP53c.1025G>C (p.Arg342Pro)
c.629G>C (p.Arg210Pro)
c.746G>C (p.Arg249Pro)
c.1004G>C (p.Arg335Pro)
c.993+2851G>C (n.993+2851G>C)
c.782+3497G>C (n.782+3497G>C)
c.*132G>C (n.*132G>C)
c.*44G>C (n.*44G>C)
c.54-994G>C
c.908G>C (p.Arg303Pro)
c.992G>C (p.Arg331Pro)
c.548G>C (p.Arg183Pro)
ClinVar dbSNP COSMIC COSMIC
17g.7670684C>TCA000835TP53c.1025G>A (p.Arg342Gln)
c.629G>A (p.Arg210Gln)
c.746G>A (p.Arg249Gln)
c.1004G>A (p.Arg335Gln)
c.993+2851G>A (n.993+2851G>A)
c.782+3497G>A (n.782+3497G>A)
c.*132G>A (n.*132G>A)
c.*44G>A (n.*44G>A)
c.54-994G>A
c.908G>A (p.Arg303Gln)
c.992G>A (p.Arg331Gln)
c.548G>A (p.Arg183Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.7670684_7670685delCA2697559388TP53c.1024_1025del (p.Glu343AlafsTer3)
c.628_629del (p.Glu211AlafsTer3)
c.745_746del (p.Glu250AlafsTer3)
c.1003_1004del (p.Glu336AlafsTer3)
c.993+2850_993+2851del (n.993+2850_993+2851del)
c.782+3496_782+3497del (n.782+3496_782+3497del)
c.*131_*132del (n.*131_*132del)
c.*43_*44del (n.*43_*44del)
c.54-995_54-994del
c.907_908del (p.Glu304AlafsTer3)
c.991_992del (p.Glu332AlafsTer3)
c.547_548del (p.Glu184AlafsTer3)
ClinVar
17g.7670684_7670685delinsAACA915949512TP53c.1024_1025delinsTT (p.Arg342Leu)
c.628_629delinsTT (p.Arg210Leu)
c.745_746delinsTT (p.Arg249Leu)
c.1003_1004delinsTT (p.Arg335Leu)
c.993+2850_993+2851delinsTT (n.993+2850_993+2851delinsTT)
c.782+3496_782+3497delinsTT (n.782+3496_782+3497delinsTT)
c.*131_*132delinsTT (n.*131_*132delinsTT)
c.*43_*44delinsTT (n.*43_*44delinsTT)
c.54-995_54-994delinsTT
c.907_908delinsTT (p.Arg303Leu)
c.991_992delinsTT (p.Arg331Leu)
c.547_548delinsTT (p.Arg183Leu)
ClinVar dbSNP
17g.7670684_7670685delinsCGCA2245942885TP53c.1024_1025delinsCG (p.Arg342=)
c.628_629delinsCG (p.Arg210=)
c.745_746delinsCG (p.Arg249=)
c.1003_1004delinsCG (p.Arg335=)
c.993+2850_993+2851delinsCG (n.993+2850_993+2851delinsCG)
c.782+3496_782+3497delinsCG (n.782+3496_782+3497delinsCG)
c.*131_*132delinsCG (n.*131_*132delinsCG)
c.*43_*44delinsCG (n.*43_*44delinsCG)
c.54-995_54-994delinsCG
c.907_908delinsCG (p.Arg303=)
c.991_992delinsCG (p.Arg331=)
c.547_548delinsCG (p.Arg183=)
17g.7670684_7670686delinsCGGCA2245942886TP53c.1023_1025delinsCCG (p.Phe341=)
c.627_629delinsCCG (p.Phe209=)
c.744_746delinsCCG (p.Phe248=)
c.1002_1004delinsCCG (p.Phe334=)
c.993+2849_993+2851delinsCCG (n.993+2849_993+2851delinsCCG)
c.782+3495_782+3497delinsCCG (n.782+3495_782+3497delinsCCG)
c.*130_*132delinsCCG (n.*130_*132delinsCCG)
c.*42_*44delinsCCG (n.*42_*44delinsCCG)
c.54-996_54-994delinsCCG
c.906_908delinsCCG (p.Phe302=)
c.990_992delinsCCG (p.Phe330=)
c.546_548delinsCCG (p.Phe182=)
17g.7670685G>ACA000019TP53c.1024C>T (p.Arg342Ter)
c.628C>T (p.Arg210Ter)
c.745C>T (p.Arg249Ter)
c.1003C>T (p.Arg335Ter)
c.993+2850C>T (n.993+2850C>T)
c.782+3496C>T (n.782+3496C>T)
c.*131C>T (n.*131C>T)
c.*43C>T (n.*43C>T)
c.54-995C>T
c.907C>T (p.Arg303Ter)
c.991C>T (p.Arg331Ter)
c.547C>T (p.Arg183Ter)
ClinVar dbSNP COSMIC COSMIC
17g.7670685G>CCA397832599TP53c.1024C>G (p.Arg342Gly)
c.628C>G (p.Arg210Gly)
c.745C>G (p.Arg249Gly)
c.1003C>G (p.Arg335Gly)
c.993+2850C>G (n.993+2850C>G)
c.782+3496C>G (n.782+3496C>G)
c.*131C>G (n.*131C>G)
c.*43C>G (n.*43C>G)
c.54-995C>G
c.907C>G (p.Arg303Gly)
c.991C>G (p.Arg331Gly)
c.547C>G (p.Arg183Gly)
ClinVar dbSNP
17g.7670685G=CA2245942905TP53c.1024C= (p.Arg342=)
c.628C= (p.Arg210=)
c.745C= (p.Arg249=)
c.1003C= (p.Arg335=)
c.993+2850C= (n.993+2850C=)
c.782+3496C= (n.782+3496C=)
c.*131C= (n.*131C=)
c.*43C= (n.*43C=)
c.54-995C=
c.907C= (p.Arg303=)
c.991C= (p.Arg331=)
c.547C= (p.Arg183=)
17g.7670685G>TCA497712604TP53c.1024C>A (p.Arg342=)
c.628C>A (p.Arg210=)
c.745C>A (p.Arg249=)
c.1003C>A (p.Arg335=)
c.993+2850C>A (n.993+2850C>A)
c.782+3496C>A (n.782+3496C>A)
c.*131C>A (n.*131C>A)
c.*43C>A (n.*43C>A)
c.54-995C>A
c.907C>A (p.Arg303=)
c.991C>A (p.Arg331=)
c.547C>A (p.Arg183=)
dbSNP
17g.7670685_7670686delinsACA919785603TP53c.1023_1024delinsT (p.Arg342GlufsTer3)
c.627_628delinsT (p.Arg210GlufsTer3)
c.744_745delinsT (p.Arg249GlufsTer3)
c.1002_1003delinsT (p.Arg335GlufsTer3)
c.993+2849_993+2850delinsT (n.993+2849_993+2850delinsT)
c.782+3495_782+3496delinsT (n.782+3495_782+3496delinsT)
c.*130_*131delinsT (n.*130_*131delinsT)
c.*42_*43delinsT (n.*42_*43delinsT)
c.54-996_54-995delinsT
c.906_907delinsT (p.Arg303GlufsTer3)
c.990_991delinsT (p.Arg331GlufsTer3)
c.546_547delinsT (p.Arg183GlufsTer3)
dbSNP
17g.7670685_7670686delinsAACA645587307TP53c.1023_1024delinsTT (p.Phe342Ter)
c.627_628delinsTT (p.Phe210Ter)
c.744_745delinsTT (p.Phe249Ter)
c.1002_1003delinsTT (p.Phe335Ter)
c.993+2849_993+2850delinsTT (n.993+2849_993+2850delinsTT)
c.782+3495_782+3496delinsTT (n.782+3495_782+3496delinsTT)
c.*130_*131delinsTT (n.*130_*131delinsTT)
c.*42_*43delinsTT (n.*42_*43delinsTT)
c.54-996_54-995delinsTT
c.906_907delinsTT (p.Phe303Ter)
c.990_991delinsTT (p.Phe331Ter)
c.546_547delinsTT (p.Phe183Ter)
COSMIC COSMIC
17g.7670686delCA497712605TP53c.1024del (p.Arg342GlufsTer3)
c.628del (p.Arg210GlufsTer3)
c.745del (p.Arg249GlufsTer3)
c.1003del (p.Arg335GlufsTer3)
c.993+2850del (n.993+2850del)
c.782+3496del (n.782+3496del)
c.*131del (n.*131del)
c.*43del (n.*43del)
c.54-995del
c.907del (p.Arg303GlufsTer3)
c.991del (p.Arg331GlufsTer3)
c.547del (p.Arg183GlufsTer3)
ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
17g.7670685_7670686insACA645587309TP53c.1023_1024insT (p.Arg342SerfsTer5)
c.627_628insT (p.Arg210SerfsTer5)
c.744_745insT (p.Arg249SerfsTer5)
c.1002_1003insT (p.Arg335SerfsTer5)
c.993+2849_993+2850insT (n.993+2849_993+2850insT)
c.782+3495_782+3496insT (n.782+3495_782+3496insT)
c.*130_*131insT (n.*130_*131insT)
c.*42_*43insT (n.*42_*43insT)
c.54-996_54-995insT
c.906_907insT (p.Arg303SerfsTer5)
c.990_991insT (p.Arg331SerfsTer5)
c.546_547insT (p.Arg183SerfsTer5)
COSMIC
17g.7670685_7670686insTTCAGCTCTCCA645587310TP53c.1023_1024insGAGAGCTGAA (p.Arg342GlufsTer3)
c.627_628insGAGAGCTGAA (p.Arg210GlufsTer3)
c.744_745insGAGAGCTGAA (p.Arg249GlufsTer3)
c.1002_1003insGAGAGCTGAA (p.Arg335GlufsTer3)
c.993+2849_993+2850insGAGAGCTGAA (n.993+2849_993+2850insGAGAGCTGAA)
c.782+3495_782+3496insGAGAGCTGAA (n.782+3495_782+3496insGAGAGCTGAA)
c.*130_*131insGAGAGCTGAA (n.*130_*131insGAGAGCTGAA)
c.*42_*43insGAGAGCTGAA (n.*42_*43insGAGAGCTGAA)
c.54-996_54-995insGAGAGCTGAA
c.906_907insGAGAGCTGAA (p.Arg303GlufsTer3)
c.990_991insGAGAGCTGAA (p.Arg331GlufsTer3)
c.546_547insGAGAGCTGAA (p.Arg183GlufsTer3)
COSMIC COSMIC
17g.7670686G>ACA349981TP53c.1023C>T (p.Phe341=)
c.627C>T (p.Phe209=)
c.744C>T (p.Phe248=)
c.1002C>T (p.Phe334=)
c.993+2849C>T (n.993+2849C>T)
c.782+3495C>T (n.782+3495C>T)
c.*130C>T (n.*130C>T)
c.*42C>T (n.*42C>T)
c.54-996C>T
c.906C>T (p.Phe302=)
c.990C>T (p.Phe330=)
c.546C>T (p.Phe182=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7670686G>CCA397832612TP53c.1023C>G (p.Phe341Leu)
c.627C>G (p.Phe209Leu)
c.744C>G (p.Phe248Leu)
c.1002C>G (p.Phe334Leu)
c.993+2849C>G (n.993+2849C>G)
c.782+3495C>G (n.782+3495C>G)
c.*130C>G (n.*130C>G)
c.*42C>G (n.*42C>G)
c.54-996C>G
c.906C>G (p.Phe302Leu)
c.990C>G (p.Phe330Leu)
c.546C>G (p.Phe182Leu)
ClinVar dbSNP
17g.7670686G=CA2245942920TP53c.1023C= (p.Phe341=)
c.627C= (p.Phe209=)
c.744C= (p.Phe248=)
c.1002C= (p.Phe334=)
c.993+2849C= (n.993+2849C=)
c.782+3495C= (n.782+3495C=)
c.*130C= (n.*130C=)
c.*42C= (n.*42C=)
c.54-996C=
c.906C= (p.Phe302=)
c.990C= (p.Phe330=)
c.546C= (p.Phe182=)
17g.7670686G>TCA397832608TP53c.1023C>A (p.Phe341Leu)
c.627C>A (p.Phe209Leu)
c.744C>A (p.Phe248Leu)
c.1002C>A (p.Phe334Leu)
c.993+2849C>A (n.993+2849C>A)
c.782+3495C>A (n.782+3495C>A)
c.*130C>A (n.*130C>A)
c.*42C>A (n.*42C>A)
c.54-996C>A
c.906C>A (p.Phe302Leu)
c.990C>A (p.Phe330Leu)
c.546C>A (p.Phe182Leu)
ClinVar dbSNP COSMIC
17g.7670686_7670687delCA645587308TP53c.1022_1023del (p.Phe341SerfsTer5)
c.626_627del (p.Phe209SerfsTer5)
c.743_744del (p.Phe248SerfsTer5)
c.1001_1002del (p.Phe334SerfsTer5)
c.993+2848_993+2849del (n.993+2848_993+2849del)
c.782+3494_782+3495del (n.782+3494_782+3495del)
c.*129_*130del (n.*129_*130del)
c.*41_*42del (n.*41_*42del)
c.54-997_54-996del
c.905_906del (p.Phe302SerfsTer5)
c.989_990del (p.Phe330SerfsTer5)
c.545_546del (p.Phe182SerfsTer5)
COSMIC COSMIC
17g.7670687A>CCA397832615TP53c.1022T>G (p.Phe341Cys)
c.626T>G (p.Phe209Cys)
c.743T>G (p.Phe248Cys)
c.1001T>G (p.Phe334Cys)
c.993+2848T>G (n.993+2848T>G)
c.782+3494T>G (n.782+3494T>G)
c.*129T>G (n.*129T>G)
c.*41T>G (n.*41T>G)
c.54-997T>G
c.905T>G (p.Phe302Cys)
c.989T>G (p.Phe330Cys)
c.545T>G (p.Phe182Cys)
COSMIC
17g.7670687A>GCA397832622TP53c.1022T>C (p.Phe341Ser)
c.626T>C (p.Phe209Ser)
c.743T>C (p.Phe248Ser)
c.1001T>C (p.Phe334Ser)
c.993+2848T>C (n.993+2848T>C)
c.782+3494T>C (n.782+3494T>C)
c.*129T>C (n.*129T>C)
c.*41T>C (n.*41T>C)
c.54-997T>C
c.905T>C (p.Phe302Ser)
c.989T>C (p.Phe330Ser)
c.545T>C (p.Phe182Ser)
COSMIC COSMIC
17g.7670687A>TCA397832617TP53c.1022T>A (p.Phe341Tyr)
c.626T>A (p.Phe209Tyr)
c.743T>A (p.Phe248Tyr)
c.1001T>A (p.Phe334Tyr)
c.993+2848T>A (n.993+2848T>A)
c.782+3494T>A (n.782+3494T>A)
c.*129T>A (n.*129T>A)
c.*41T>A (n.*41T>A)
c.54-997T>A
c.905T>A (p.Phe302Tyr)
c.989T>A (p.Phe330Tyr)
c.545T>A (p.Phe182Tyr)
dbSNP
17g.7670687_7670688delinsAACA2245942926TP53c.1021_1022delinsTT (p.Phe341=)
c.625_626delinsTT (p.Phe209=)
c.742_743delinsTT (p.Phe248=)
c.1000_1001delinsTT (p.Phe334=)
c.993+2847_993+2848delinsTT (n.993+2847_993+2848delinsTT)
c.782+3493_782+3494delinsTT (n.782+3493_782+3494delinsTT)
c.*128_*129delinsTT (n.*128_*129delinsTT)
c.*40_*41delinsTT (n.*40_*41delinsTT)
c.54-998_54-997delinsTT
c.904_905delinsTT (p.Phe302=)
c.988_989delinsTT (p.Phe330=)
c.544_545delinsTT (p.Phe182=)
17g.7670687_7670688delinsCTCA2580094859TP53c.1021_1022delinsAG (p.Phe341Ser)
c.625_626delinsAG (p.Phe209Ser)
c.742_743delinsAG (p.Phe248Ser)
c.1000_1001delinsAG (p.Phe334Ser)
c.993+2847_993+2848delinsAG (n.993+2847_993+2848delinsAG)
c.782+3493_782+3494delinsAG (n.782+3493_782+3494delinsAG)
c.*128_*129delinsAG (n.*128_*129delinsAG)
c.*40_*41delinsAG (n.*40_*41delinsAG)
c.54-998_54-997delinsAG
c.904_905delinsAG (p.Phe302Ser)
c.988_989delinsAG (p.Phe330Ser)
c.544_545delinsAG (p.Phe182Ser)
ClinVar
17g.7670688delCA497712606TP53c.1022del (p.Phe341SerfsTer4)
c.626del (p.Phe209SerfsTer4)
c.743del (p.Phe248SerfsTer4)
c.1001del (p.Phe334SerfsTer4)
c.993+2848del (n.993+2848del)
c.782+3494del (n.782+3494del)
c.*129del (n.*129del)
c.*41del (n.*41del)
c.54-997del
c.905del (p.Phe302SerfsTer4)
c.989del (p.Phe330SerfsTer4)
c.545del (p.Phe182SerfsTer4)
ClinVar COSMIC
17g.7670687_7670694delCA645587311TP53c.1015_1022del (p.Glu339ProfsTer5)
c.619_626del (p.Glu207ProfsTer5)
c.736_743del (p.Glu246ProfsTer5)
c.994_1001del (p.Glu332ProfsTer5)
c.993+2841_993+2848del (n.993+2841_993+2848del)
c.782+3487_782+3494del (n.782+3487_782+3494del)
c.*122_*129del (n.*122_*129del)
c.*34_*41del (n.*34_*41del)
c.54-1004_54-997del
c.898_905del (p.Glu300ProfsTer5)
c.982_989del (p.Glu328ProfsTer5)
c.538_545del (p.Glu180ProfsTer5)
COSMIC COSMIC
17g.7670688A>CCA397832624TP53c.1021T>G (p.Phe341Val)
c.625T>G (p.Phe209Val)
c.742T>G (p.Phe248Val)
c.1000T>G (p.Phe334Val)
c.993+2847T>G (n.993+2847T>G)
c.782+3493T>G (n.782+3493T>G)
c.*128T>G (n.*128T>G)
c.*40T>G (n.*40T>G)
c.54-998T>G
c.904T>G (p.Phe302Val)
c.988T>G (p.Phe330Val)
c.544T>G (p.Phe182Val)
17g.7670688A>GCA397832628TP53c.1021T>C (p.Phe341Leu)
c.625T>C (p.Phe209Leu)
c.742T>C (p.Phe248Leu)
c.1000T>C (p.Phe334Leu)
c.993+2847T>C (n.993+2847T>C)
c.782+3493T>C (n.782+3493T>C)
c.*128T>C (n.*128T>C)
c.*40T>C (n.*40T>C)
c.54-998T>C
c.904T>C (p.Phe302Leu)
c.988T>C (p.Phe330Leu)
c.544T>C (p.Phe182Leu)
17g.7670688A>TCA397832636TP53c.1021T>A (p.Phe341Ile)
c.625T>A (p.Phe209Ile)
c.742T>A (p.Phe248Ile)
c.1000T>A (p.Phe334Ile)
c.993+2847T>A (n.993+2847T>A)
c.782+3493T>A (n.782+3493T>A)
c.*128T>A (n.*128T>A)
c.*40T>A (n.*40T>A)
c.54-998T>A
c.904T>A (p.Phe302Ile)
c.988T>A (p.Phe330Ile)
c.544T>A (p.Phe182Ile)
ClinVar dbSNP
17g.7670688delinsTTCCA1139665113TP53c.1021delinsGAA (p.Phe341GlufsTer5)
c.625delinsGAA (p.Phe209GlufsTer5)
c.742delinsGAA (p.Phe248GlufsTer5)
c.1000delinsGAA (p.Phe334GlufsTer5)
c.993+2847delinsGAA (n.993+2847delinsGAA)
c.782+3493delinsGAA (n.782+3493delinsGAA)
c.*128delinsGAA (n.*128delinsGAA)
c.*40delinsGAA (n.*40delinsGAA)
c.54-998delinsGAA
c.904delinsGAA (p.Phe302GlufsTer5)
c.988delinsGAA (p.Phe330GlufsTer5)
c.544delinsGAA (p.Phe182GlufsTer5)
ClinVar dbSNP
17g.7670688_7670694dupCA645587313TP53c.1015_1021dup (p.Phe341Ter)
c.619_625dup (p.Phe209Ter)
c.736_742dup (p.Phe248Ter)
c.994_1000dup (p.Phe334Ter)
c.993+2841_993+2847dup (n.993+2841_993+2847dup)
c.782+3487_782+3493dup (n.782+3487_782+3493dup)
c.*122_*128dup (n.*122_*128dup)
c.*34_*40dup (n.*34_*40dup)
c.54-1004_54-998dup
c.898_904dup (p.Phe302Ter)
c.982_988dup (p.Phe330Ter)
c.538_544dup (p.Phe182Ter)
COSMIC COSMIC
17g.7670689C>ACA397832641TP53c.1020G>T (p.Met340Ile)
c.624G>T (p.Met208Ile)
c.741G>T (p.Met247Ile)
c.999G>T (p.Met333Ile)
c.993+2846G>T (n.993+2846G>T)
c.782+3492G>T (n.782+3492G>T)
c.*127G>T (n.*127G>T)
c.*39G>T (n.*39G>T)
c.54-999G>T
c.903G>T (p.Met301Ile)
c.987G>T (p.Met329Ile)
c.543G>T (p.Met181Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.7670689C=CA2245942934TP53c.1020G= (p.Met340=)
c.624G= (p.Met208=)
c.741G= (p.Met247=)
c.999G= (p.Met333=)
c.993+2846G= (n.993+2846G=)
c.782+3492G= (n.782+3492G=)
c.*127G= (n.*127G=)
c.*39G= (n.*39G=)
c.54-999G=
c.903G= (p.Met301=)
c.987G= (p.Met329=)
c.543G= (p.Met181=)
17g.7670689C>GCA397832643TP53c.1020G>C (p.Met340Ile)
c.624G>C (p.Met208Ile)
c.741G>C (p.Met247Ile)
c.999G>C (p.Met333Ile)
c.993+2846G>C (n.993+2846G>C)
c.782+3492G>C (n.782+3492G>C)
c.*127G>C (n.*127G>C)
c.*39G>C (n.*39G>C)
c.54-999G>C
c.903G>C (p.Met301Ile)
c.987G>C (p.Met329Ile)
c.543G>C (p.Met181Ile)
dbSNP
17g.7670689C>TCA397832656TP53c.1020G>A (p.Met340Ile)
c.624G>A (p.Met208Ile)
c.741G>A (p.Met247Ile)
c.999G>A (p.Met333Ile)
c.993+2846G>A (n.993+2846G>A)
c.782+3492G>A (n.782+3492G>A)
c.*127G>A (n.*127G>A)
c.*39G>A (n.*39G>A)
c.54-999G>A
c.903G>A (p.Met301Ile)
c.987G>A (p.Met329Ile)
c.543G>A (p.Met181Ile)
ClinVar dbSNP COSMIC
17g.7670689_7670709delCA645587314TP53c.1000_1020del (p.Gly334_Met340del)
c.604_624del (p.Gly202_Met208del)
c.721_741del (p.Gly241_Met247del)
c.979_999del (p.Gly327_Met333del)
c.993+2826_993+2846del (n.993+2826_993+2846del)
c.782+3472_782+3492del (n.782+3472_782+3492del)
c.*107_*127del (n.*107_*127del)
c.*19_*39del (n.*19_*39del)
c.54-1019_54-999del
c.883_903del (p.Gly295_Met301del)
c.967_987del (p.Gly323_Met329del)
c.523_543del (p.Gly175_Met181del)
COSMIC COSMIC
17g.7670690A=CA2245942943TP53c.1019T= (p.Met340=)
c.623T= (p.Met208=)
c.740T= (p.Met247=)
c.998T= (p.Met333=)
c.993+2845T= (n.993+2845T=)
c.782+3491T= (n.782+3491T=)
c.*126T= (n.*126T=)
c.*38T= (n.*38T=)
c.54-1000T=
c.902T= (p.Met301=)
c.986T= (p.Met329=)
c.542T= (p.Met181=)
17g.7670690A>CCA397832661TP53c.1019T>G (p.Met340Arg)
c.623T>G (p.Met208Arg)
c.740T>G (p.Met247Arg)
c.998T>G (p.Met333Arg)
c.993+2845T>G (n.993+2845T>G)
c.782+3491T>G (n.782+3491T>G)
c.*126T>G (n.*126T>G)
c.*38T>G (n.*38T>G)
c.54-1000T>G
c.902T>G (p.Met301Arg)
c.986T>G (p.Met329Arg)
c.542T>G (p.Met181Arg)
17g.7670690A>GCA397832662TP53c.1019T>C (p.Met340Thr)
c.623T>C (p.Met208Thr)
c.740T>C (p.Met247Thr)
c.998T>C (p.Met333Thr)
c.993+2845T>C (n.993+2845T>C)
c.782+3491T>C (n.782+3491T>C)
c.*126T>C (n.*126T>C)
c.*38T>C (n.*38T>C)
c.54-1000T>C
c.902T>C (p.Met301Thr)
c.986T>C (p.Met329Thr)
c.542T>C (p.Met181Thr)
17g.7670690A>TCA397832663TP53c.1019T>A (p.Met340Lys)
c.623T>A (p.Met208Lys)
c.740T>A (p.Met247Lys)
c.998T>A (p.Met333Lys)
c.993+2845T>A (n.993+2845T>A)
c.782+3491T>A (n.782+3491T>A)
c.*126T>A (n.*126T>A)
c.*38T>A (n.*38T>A)
c.54-1000T>A
c.902T>A (p.Met301Lys)
c.986T>A (p.Met329Lys)
c.542T>A (p.Met181Lys)
ClinVar dbSNP
17g.7670690_7670691delinsATCA2245942945TP53c.1018_1019delinsAT (p.Met340=)
c.622_623delinsAT (p.Met208=)
c.739_740delinsAT (p.Met247=)
c.997_998delinsAT (p.Met333=)
c.993+2844_993+2845delinsAT (n.993+2844_993+2845delinsAT)
c.782+3490_782+3491delinsAT (n.782+3490_782+3491delinsAT)
c.*125_*126delinsAT (n.*125_*126delinsAT)
c.*37_*38delinsAT (n.*37_*38delinsAT)
c.54-1001_54-1000delinsAT
c.901_902delinsAT (p.Met301=)
c.985_986delinsAT (p.Met329=)
c.541_542delinsAT (p.Met181=)
17g.7670691delCA645369695TP53c.1018del (p.Met340CysfsTer5)
c.622del (p.Met208CysfsTer5)
c.739del (p.Met247CysfsTer5)
c.997del (p.Met333CysfsTer5)
c.993+2844del (n.993+2844del)
c.782+3490del (n.782+3490del)
c.*125del (n.*125del)
c.*37del (n.*37del)
c.54-1001del
c.901del (p.Met301CysfsTer5)
c.985del (p.Met329CysfsTer5)
c.541del (p.Met181CysfsTer5)
ClinVar dbSNP COSMIC COSMIC
17g.7670691T>ACA397832664TP53c.1018A>T (p.Met340Leu)
c.622A>T (p.Met208Leu)
c.739A>T (p.Met247Leu)
c.997A>T (p.Met333Leu)
c.993+2844A>T (n.993+2844A>T)
c.782+3490A>T (n.782+3490A>T)
c.*125A>T (n.*125A>T)
c.*37A>T (n.*37A>T)
c.54-1001A>T
c.901A>T (p.Met301Leu)
c.985A>T (p.Met329Leu)
c.541A>T (p.Met181Leu)
dbSNP
17g.7670691T>CCA397832665TP53c.1018A>G (p.Met340Val)
c.622A>G (p.Met208Val)
c.739A>G (p.Met247Val)
c.997A>G (p.Met333Val)
c.993+2844A>G (n.993+2844A>G)
c.782+3490A>G (n.782+3490A>G)
c.*125A>G (n.*125A>G)
c.*37A>G (n.*37A>G)
c.54-1001A>G
c.901A>G (p.Met301Val)
c.985A>G (p.Met329Val)
c.541A>G (p.Met181Val)
dbSNP COSMIC
17g.7670691T>GCA397832666TP53c.1018A>C (p.Met340Leu)
c.622A>C (p.Met208Leu)
c.739A>C (p.Met247Leu)
c.997A>C (p.Met333Leu)
c.993+2844A>C (n.993+2844A>C)
c.782+3490A>C (n.782+3490A>C)
c.*125A>C (n.*125A>C)
c.*37A>C (n.*37A>C)
c.54-1001A>C
c.901A>C (p.Met301Leu)
c.985A>C (p.Met329Leu)
c.541A>C (p.Met181Leu)
17g.7670691_7670693delCA645587315TP53c.1016_1018del (p.Glu339_Met340delinsVal)
c.620_622del (p.Glu207_Met208delinsVal)
c.737_739del (p.Glu246_Met247delinsVal)
c.995_997del (p.Glu332_Met333delinsVal)
c.993+2842_993+2844del (n.993+2842_993+2844del)
c.782+3488_782+3490del (n.782+3488_782+3490del)
c.*123_*125del (n.*123_*125del)
c.*35_*37del (n.*35_*37del)
c.54-1003_54-1001del
c.899_901del (p.Glu300_Met301delinsVal)
c.983_985del (p.Glu328_Met329delinsVal)
c.539_541del (p.Glu180_Met181delinsVal)
COSMIC
17g.7670691_7670695dupCA645587317TP53c.1014_1018dup (p.Met340ThrfsTer7)
c.618_622dup (p.Met208ThrfsTer7)
c.735_739dup (p.Met247ThrfsTer7)
c.993_997dup (p.Met333ThrfsTer7)
c.993+2840_993+2844dup (n.993+2840_993+2844dup)
c.782+3486_782+3490dup (n.782+3486_782+3490dup)
c.*121_*125dup (n.*121_*125dup)
c.*33_*37dup (n.*33_*37dup)
c.54-1005_54-1001dup
c.897_901dup (p.Met301ThrfsTer7)
c.981_985dup (p.Met329ThrfsTer7)
c.537_541dup (p.Met181ThrfsTer7)
COSMIC
17g.7670691_7670699delCA645587316TP53c.1010_1018del (p.Arg337_Met340delinsLeu)
c.614_622del (p.Arg205_Met208delinsLeu)
c.731_739del (p.Arg244_Met247delinsLeu)
c.989_997del (p.Arg330_Met333delinsLeu)
c.993+2836_993+2844del (n.993+2836_993+2844del)
c.782+3482_782+3490del (n.782+3482_782+3490del)
c.*117_*125del (n.*117_*125del)
c.*29_*37del (n.*29_*37del)
c.54-1009_54-1001del
c.893_901del (p.Arg298_Met301delinsLeu)
c.977_985del (p.Arg326_Met329delinsLeu)
c.533_541del (p.Arg178_Met181delinsLeu)
COSMIC COSMIC
17g.7670692delCA645587318TP53c.1017del (p.Met340CysfsTer5)
c.621del (p.Met208CysfsTer5)
c.738del (p.Met247CysfsTer5)
c.996del (p.Met333CysfsTer5)
c.993+2843del (n.993+2843del)
c.782+3489del (n.782+3489del)
c.*124del (n.*124del)
c.*36del (n.*36del)
c.54-1002del
c.900del (p.Met301CysfsTer5)
c.984del (p.Met329CysfsTer5)
c.540del (p.Met181CysfsTer5)
COSMIC COSMIC
17g.7670692C>ACA397832670TP53c.1017G>T (p.Glu339Asp)
c.621G>T (p.Glu207Asp)
c.738G>T (p.Glu246Asp)
c.996G>T (p.Glu332Asp)
c.993+2843G>T (n.993+2843G>T)
c.782+3489G>T (n.782+3489G>T)
c.*124G>T (n.*124G>T)
c.*36G>T (n.*36G>T)
c.54-1002G>T
c.900G>T (p.Glu300Asp)
c.984G>T (p.Glu328Asp)
c.540G>T (p.Glu180Asp)
17g.7670692C>GCA397832668TP53c.1017G>C (p.Glu339Asp)
c.621G>C (p.Glu207Asp)
c.738G>C (p.Glu246Asp)
c.996G>C (p.Glu332Asp)
c.993+2843G>C (n.993+2843G>C)
c.782+3489G>C (n.782+3489G>C)
c.*124G>C (n.*124G>C)
c.*36G>C (n.*36G>C)
c.54-1002G>C
c.900G>C (p.Glu300Asp)
c.984G>C (p.Glu328Asp)
c.540G>C (p.Glu180Asp)
dbSNP
17g.7670692C>TCA497712607TP53c.1017G>A (p.Glu339=)
c.621G>A (p.Glu207=)
c.738G>A (p.Glu246=)
c.996G>A (p.Glu332=)
c.993+2843G>A (n.993+2843G>A)
c.782+3489G>A (n.782+3489G>A)
c.*124G>A (n.*124G>A)
c.*36G>A (n.*36G>A)
c.54-1002G>A
c.900G>A (p.Glu300=)
c.984G>A (p.Glu328=)
c.540G>A (p.Glu180=)
gnomAD v4
17g.7670692dupCA645587319TP53c.1017dup (p.Met340AspfsTer7)
c.621dup (p.Met208AspfsTer7)
c.738dup (p.Met247AspfsTer7)
c.996dup (p.Met333AspfsTer7)
c.993+2843dup (n.993+2843dup)
c.782+3489dup (n.782+3489dup)
c.*124dup (n.*124dup)
c.*36dup (n.*36dup)
c.54-1002dup
c.900dup (p.Met301AspfsTer7)
c.984dup (p.Met329AspfsTer7)
c.540dup (p.Met181AspfsTer7)
COSMIC COSMIC
17g.7670692_7670695delCA645587320TP53c.1014_1017del (p.Phe338LeufsTer6)
c.618_621del (p.Phe206LeufsTer6)
c.735_738del (p.Phe245LeufsTer6)
c.993_996del (p.Phe331LeufsTer6)
c.993+2840_993+2843del (n.993+2840_993+2843del)
c.782+3486_782+3489del (n.782+3486_782+3489del)
c.*121_*124del (n.*121_*124del)
c.*33_*36del (n.*33_*36del)
c.54-1005_54-1002del
c.897_900del (p.Phe299LeufsTer6)
c.981_984del (p.Phe327LeufsTer6)
c.537_540del (p.Phe179LeufsTer6)
COSMIC
17g.7670693T>ACA397832671TP53c.1016A>T (p.Glu339Val)
c.620A>T (p.Glu207Val)
c.737A>T (p.Glu246Val)
c.995A>T (p.Glu332Val)
c.993+2842A>T (n.993+2842A>T)
c.782+3488A>T (n.782+3488A>T)
c.*123A>T (n.*123A>T)
c.*35A>T (n.*35A>T)
c.54-1003A>T
c.899A>T (p.Glu300Val)
c.983A>T (p.Glu328Val)
c.539A>T (p.Glu180Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.7670693T>CCA397832675TP53c.1016A>G (p.Glu339Gly)
c.620A>G (p.Glu207Gly)
c.737A>G (p.Glu246Gly)
c.995A>G (p.Glu332Gly)
c.993+2842A>G (n.993+2842A>G)
c.782+3488A>G (n.782+3488A>G)
c.*123A>G (n.*123A>G)
c.*35A>G (n.*35A>G)
c.54-1003A>G
c.899A>G (p.Glu300Gly)
c.983A>G (p.Glu328Gly)
c.539A>G (p.Glu180Gly)
ClinVar dbSNP gnomAD v4
17g.7670693T>GCA397832681TP53c.1016A>C (p.Glu339Ala)
c.620A>C (p.Glu207Ala)
c.737A>C (p.Glu246Ala)
c.995A>C (p.Glu332Ala)
c.993+2842A>C (n.993+2842A>C)
c.782+3488A>C (n.782+3488A>C)
c.*123A>C (n.*123A>C)
c.*35A>C (n.*35A>C)
c.54-1003A>C
c.899A>C (p.Glu300Ala)
c.983A>C (p.Glu328Ala)
c.539A>C (p.Glu180Ala)
17g.7670693T=CA2245942959TP53c.1016A= (p.Glu339=)
c.620A= (p.Glu207=)
c.737A= (p.Glu246=)
c.995A= (p.Glu332=)
c.993+2842A= (n.993+2842A=)
c.782+3488A= (n.782+3488A=)
c.*123A= (n.*123A=)
c.*35A= (n.*35A=)
c.54-1003A=
c.899A= (p.Glu300=)
c.983A= (p.Glu328=)
c.539A= (p.Glu180=)
17g.7670693_7670695delCA645587321TP53c.1014_1016del (p.Phe338_Glu339delinsLeu)
c.618_620del (p.Phe206_Glu207delinsLeu)
c.735_737del (p.Phe245_Glu246delinsLeu)
c.993_995del (p.Phe331_Glu332delinsLeu)
c.993+2840_993+2842del (n.993+2840_993+2842del)
c.782+3486_782+3488del (n.782+3486_782+3488del)
c.*121_*123del (n.*121_*123del)
c.*33_*35del (n.*33_*35del)
c.54-1005_54-1003del
c.897_899del (p.Phe299_Glu300delinsLeu)
c.981_983del (p.Phe327_Glu328delinsLeu)
c.537_539del (p.Phe179_Glu180delinsLeu)
COSMIC
17g.7670694delCA645587322TP53c.1015del (p.Glu339ArgfsTer6)
c.619del (p.Glu207ArgfsTer6)
c.736del (p.Glu246ArgfsTer6)
c.994del (p.Glu332ArgfsTer6)
c.993+2841del (n.993+2841del)
c.782+3487del (n.782+3487del)
c.*122del (n.*122del)
c.*34del (n.*34del)
c.54-1004del
c.898del (p.Glu300ArgfsTer6)
c.982del (p.Glu328ArgfsTer6)
c.538del (p.Glu180ArgfsTer6)
COSMIC COSMIC
17g.7670694C>ACA397832685TP53c.1015G>T (p.Glu339Ter)
c.619G>T (p.Glu207Ter)
c.736G>T (p.Glu246Ter)
c.994G>T (p.Glu332Ter)
c.993+2841G>T (n.993+2841G>T)
c.782+3487G>T (n.782+3487G>T)
c.*122G>T (n.*122G>T)
c.*34G>T (n.*34G>T)
c.54-1004G>T
c.898G>T (p.Glu300Ter)
c.982G>T (p.Glu328Ter)
c.538G>T (p.Glu180Ter)
ClinVar dbSNP COSMIC COSMIC
17g.7670694C=CA2245942975TP53c.1015G= (p.Glu339=)
c.619G= (p.Glu207=)
c.736G= (p.Glu246=)
c.994G= (p.Glu332=)
c.993+2841G= (n.993+2841G=)
c.782+3487G= (n.782+3487G=)
c.*122G= (n.*122G=)
c.*34G= (n.*34G=)
c.54-1004G=
c.898G= (p.Glu300=)
c.982G= (p.Glu328=)
c.538G= (p.Glu180=)
17g.7670694C>GCA000018TP53c.1015G>C (p.Glu339Gln)
c.619G>C (p.Glu207Gln)
c.736G>C (p.Glu246Gln)
c.994G>C (p.Glu332Gln)
c.993+2841G>C (n.993+2841G>C)
c.782+3487G>C (n.782+3487G>C)
c.*122G>C (n.*122G>C)
c.*34G>C (n.*34G>C)
c.54-1004G>C
c.898G>C (p.Glu300Gln)
c.982G>C (p.Glu328Gln)
c.538G>C (p.Glu180Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.7670694C>TCA000017TP53c.1015G>A (p.Glu339Lys)
c.619G>A (p.Glu207Lys)
c.736G>A (p.Glu246Lys)
c.994G>A (p.Glu332Lys)
c.993+2841G>A (n.993+2841G>A)
c.782+3487G>A (n.782+3487G>A)
c.*122G>A (n.*122G>A)
c.*34G>A (n.*34G>A)
c.54-1004G>A
c.898G>A (p.Glu300Lys)
c.982G>A (p.Glu328Lys)
c.538G>A (p.Glu180Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.7670694_7670695insACA913190572TP53c.1014_1015insT (p.Glu339Ter)
c.618_619insT (p.Glu207Ter)
c.735_736insT (p.Glu246Ter)
c.993_994insT (p.Glu332Ter)
c.993+2840_993+2841insT (n.993+2840_993+2841insT)
c.782+3486_782+3487insT (n.782+3486_782+3487insT)
c.*121_*122insT (n.*121_*122insT)
c.*33_*34insT (n.*33_*34insT)
c.54-1005_54-1004insT
c.897_898insT (p.Glu300Ter)
c.981_982insT (p.Glu328Ter)
c.537_538insT (p.Glu180Ter)
ClinVar dbSNP
17g.7670695delCA497712608TP53c.1014del (p.Phe338LeufsTer7)
c.618del (p.Phe206LeufsTer7)
c.735del (p.Phe245LeufsTer7)
c.993del (p.Phe331LeufsTer7)
c.993+2840del (n.993+2840del)
c.782+3486del (n.782+3486del)
c.*121del (n.*121del)
c.*33del (n.*33del)
c.54-1005del
c.897del (p.Phe299LeufsTer7)
c.981del (p.Phe327LeufsTer7)
c.537del (p.Phe179LeufsTer7)
COSMIC
17g.7670695G>ACA000016TP53c.1014C>T (p.Phe338=)
c.618C>T (p.Phe206=)
c.735C>T (p.Phe245=)
c.993C>T (p.Phe331=)
c.993+2840C>T (n.993+2840C>T)
c.782+3486C>T (n.782+3486C>T)
c.*121C>T (n.*121C>T)
c.*33C>T (n.*33C>T)
c.54-1005C>T
c.897C>T (p.Phe299=)
c.981C>T (p.Phe327=)
c.537C>T (p.Phe179=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.7670695G>CCA000848TP53c.1014C>G (p.Phe338Leu)
c.618C>G (p.Phe206Leu)
c.735C>G (p.Phe245Leu)
c.993C>G (p.Phe331Leu)
c.993+2840C>G (n.993+2840C>G)
c.782+3486C>G (n.782+3486C>G)
c.*121C>G (n.*121C>G)
c.*33C>G (n.*33C>G)
c.54-1005C>G
c.897C>G (p.Phe299Leu)
c.981C>G (p.Phe327Leu)
c.537C>G (p.Phe179Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.7670695G=CA2245943006TP53c.1014C= (p.Phe338=)
c.618C= (p.Phe206=)
c.735C= (p.Phe245=)
c.993C= (p.Phe331=)
c.993+2840C= (n.993+2840C=)
c.782+3486C= (n.782+3486C=)
c.*121C= (n.*121C=)
c.*33C= (n.*33C=)
c.54-1005C=
c.897C= (p.Phe299=)
c.981C= (p.Phe327=)
c.537C= (p.Phe179=)
17g.7670695G>TCA397832711TP53c.1014C>A (p.Phe338Leu)
c.618C>A (p.Phe206Leu)
c.735C>A (p.Phe245Leu)
c.993C>A (p.Phe331Leu)
c.993+2840C>A (n.993+2840C>A)
c.782+3486C>A (n.782+3486C>A)
c.*121C>A (n.*121C>A)
c.*33C>A (n.*33C>A)
c.54-1005C>A
c.897C>A (p.Phe299Leu)
c.981C>A (p.Phe327Leu)
c.537C>A (p.Phe179Leu)
17g.7670695dupCA2499224952TP53c.1014dup (p.Glu339ArgfsTer8)
c.618dup (p.Glu207ArgfsTer8)
c.735dup (p.Glu246ArgfsTer8)
c.993dup (p.Glu332ArgfsTer8)
c.993+2840dup (n.993+2840dup)
c.782+3486dup (n.782+3486dup)
c.*121dup (n.*121dup)
c.*33dup (n.*33dup)
c.54-1005dup
c.897dup (p.Glu300ArgfsTer8)
c.981dup (p.Glu328ArgfsTer8)
c.537dup (p.Glu180ArgfsTer8)
ClinVar dbSNP

Number of alleles fetched