Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
17 | g.7670588_7670595delinsGAAGGGGC | CA2245942166 | TP53 | c.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) | |
17 | g.7670589_7670595del | CA658798691 | TP53 | c.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 |
17 | g.7670593G>A | CA16607516 | TP53 | c.1100+16C>T (n.1100+16C>T) c.704+16C>T (n.704+16C>T) c.821+16C>T (n.821+16C>T) c.1079+16C>T (n.1079+16C>T) c.993+2942C>T (n.993+2942C>T) c.782+3588C>T (n.782+3588C>T) c.*207+16C>T (n.*207+16C>T) c.*119+16C>T (n.*119+16C>T) c.54-903C>T c.983+16C>T (n.983+16C>T) c.1067+16C>T (n.1067+16C>T) c.623+16C>T (n.623+16C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7670593G= | CA2245942177 | TP53 | c.1100+16C= (n.1100+16C=) c.704+16C= (n.704+16C=) c.821+16C= (n.821+16C=) c.1079+16C= (n.1079+16C=) c.993+2942C= (n.993+2942C=) c.782+3588C= (n.782+3588C=) c.*207+16C= (n.*207+16C=) c.*119+16C= (n.*119+16C=) c.54-903C= c.983+16C= (n.983+16C=) c.1067+16C= (n.1067+16C=) c.623+16C= (n.623+16C=) | |
17 | g.7670593G>T | CA2635879318 | TP53 | c.1100+16C>A (n.1100+16C>A) c.704+16C>A (n.704+16C>A) c.821+16C>A (n.821+16C>A) c.1079+16C>A (n.1079+16C>A) c.993+2942C>A (n.993+2942C>A) c.782+3588C>A (n.782+3588C>A) c.*207+16C>A (n.*207+16C>A) c.*119+16C>A (n.*119+16C>A) c.54-903C>A c.983+16C>A (n.983+16C>A) c.1067+16C>A (n.1067+16C>A) c.623+16C>A (n.623+16C>A) | gnomAD v4 |
17 | g.7670594G>A | CA658683976 | TP53 | c.1100+15C>T (n.1100+15C>T) c.704+15C>T (n.704+15C>T) c.821+15C>T (n.821+15C>T) c.1079+15C>T (n.1079+15C>T) c.993+2941C>T (n.993+2941C>T) c.782+3587C>T (n.782+3587C>T) c.*207+15C>T (n.*207+15C>T) c.*119+15C>T (n.*119+15C>T) c.54-904C>T c.983+15C>T (n.983+15C>T) c.1067+15C>T (n.1067+15C>T) c.623+15C>T (n.623+15C>T) | ClinVar dbSNP |
17 | g.7670594G>C | CA2732963319 | TP53 | c.1100+15C>G (n.1100+15C>G) c.704+15C>G (n.704+15C>G) c.821+15C>G (n.821+15C>G) c.1079+15C>G (n.1079+15C>G) c.993+2941C>G (n.993+2941C>G) c.782+3587C>G (n.782+3587C>G) c.*207+15C>G (n.*207+15C>G) c.*119+15C>G (n.*119+15C>G) c.54-904C>G c.983+15C>G (n.983+15C>G) c.1067+15C>G (n.1067+15C>G) c.623+15C>G (n.623+15C>G) | dbSNP |
17 | g.7670594G= | CA2245942186 | TP53 | c.1100+15C= (n.1100+15C=) c.704+15C= (n.704+15C=) c.821+15C= (n.821+15C=) c.1079+15C= (n.1079+15C=) c.993+2941C= (n.993+2941C=) c.782+3587C= (n.782+3587C=) c.*207+15C= (n.*207+15C=) c.*119+15C= (n.*119+15C=) c.54-904C= c.983+15C= (n.983+15C=) c.1067+15C= (n.1067+15C=) c.623+15C= (n.623+15C=) | |
17 | g.7670594G>T | CA2635879319 | TP53 | c.1100+15C>A (n.1100+15C>A) c.704+15C>A (n.704+15C>A) c.821+15C>A (n.821+15C>A) c.1079+15C>A (n.1079+15C>A) c.993+2941C>A (n.993+2941C>A) c.782+3587C>A (n.782+3587C>A) c.*207+15C>A (n.*207+15C>A) c.*119+15C>A (n.*119+15C>A) c.54-904C>A c.983+15C>A (n.983+15C>A) c.1067+15C>A (n.1067+15C>A) c.623+15C>A (n.623+15C>A) | gnomAD v4 |
17 | g.7670595C>A | CA2733131229 | TP53 | c.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 |
17 | g.7670595C>G | CA2733131260 | TP53 | c.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 |
17 | g.7670595C>T | CA2573154611 | TP53 | c.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 |
17 | g.7670598_7670611del | CA2838032356 | TP53 | c.1100+1_1100+14del c.704+1_704+14del c.821+1_821+14del c.1079+1_1079+14del c.993+2927_993+2940del (n.993+2927_993+2940del) c.782+3573_782+3586del (n.782+3573_782+3586del) c.*207+1_*207+14del c.*119+1_*119+14del c.54-918_54-905del c.983+1_983+14del c.1067+1_1067+14del c.623+1_623+14del | |
17 | g.7670596T>A | CA2732924067 | TP53 | c.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 |
17 | g.7670596T>C | CA000037 | TP53 | c.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 |
17 | g.7670596T>G | CA287485705 | TP53 | c.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 |
17 | g.7670596T= | CA2245942197 | TP53 | c.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=) | |
17 | g.7670597G>C | CA913188747 | TP53 | c.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 |
17 | g.7670597G= | CA2245942208 | TP53 | c.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=) | |
17 | g.7670597G>T | CA2576230503 | TP53 | c.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 |
17 | g.7670598A>G | CA2733131549 | TP53 | c.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 |
17 | g.7670598A>T | CA2733131686 | TP53 | c.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 |
17 | g.7670599G>A | CA624725863 | TP53 | c.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 |
17 | g.7670599G= | CA2245942220 | TP53 | c.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=) | |
17 | g.7670599G>T | CA000734 | TP53 | c.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 |
17 | g.7670600G>C | CA2732959707 | TP53 | c.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 |
17 | g.7670600G= | CA2245942233 | TP53 | c.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=) | |
17 | g.7670600G>T | CA624725866 | TP53 | c.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 |
17 | g.7670601T>A | CA2635871657 | TP53 | c.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 |
17 | g.7670601T>C | CA10583673 | TP53 | c.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 |
17 | g.7670601T>G | CA2732931738 | TP53 | c.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 |
17 | g.7670601T= | CA2245942236 | TP53 | c.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=) | |
17 | g.7670602C>A | CA497712378 | TP53 | c.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 |
17 | g.7670602C= | CA2245942246 | TP53 | c.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=) | |
17 | g.7670602C>G | CA2732930949 | TP53 | c.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 |
17 | g.7670602C>T | CA000741 | TP53 | c.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 |
17 | g.7670603A>T | CA2733131689 | TP53 | c.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 |
17 | g.7670604C>A | CA287485711 | TP53 | c.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 |
17 | g.7670604C= | CA2245942256 | TP53 | c.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=) | |
17 | g.7670604C>G | CA2573154612 | TP53 | c.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 |
17 | g.7670604C>T | CA915949511 | TP53 | c.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 |
17 | g.7670604_7670605delinsCT | CA2245942257 | TP53 | c.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) | |
17 | g.7670605del | CA16620608 | TP53 | c.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 |
17 | g.7670605T>A | CA2576230504 | TP53 | c.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 |
17 | g.7670605T>C | CA2733131695 | TP53 | c.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 |
17 | g.7670606C= | CA2245942268 | TP53 | c.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=) | |
17 | g.7670606C>G | CA16607517 | TP53 | c.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 |
17 | g.7670606C>T | CA2245942269 | TP53 | c.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 |
17 | g.7670607A>C | CA397831692 | TP53 | c.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 |
17 | g.7670607A>G | CA397831702 | TP53 | c.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 |
17 | g.7670607A>T | CA397831706 | TP53 | c.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 |
17 | g.7670608C>A | CA397831713 | TP53 | c.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 |
17 | g.7670608C>G | CA397831718 | TP53 | c.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 |
17 | g.7670608C>T | CA397831721 | TP53 | c.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 |
17 | g.7670609C>A | CA397831726 | TP53 | c.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 |
17 | g.7670609C= | CA2245942274 | TP53 | c.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=) | |
17 | g.7670609C>G | CA397831738 | TP53 | c.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 |
17 | g.7670609C>T | CA000747 | TP53 | c.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 |
17 | g.7670609_7670612del | CA645587289 | TP53 | c.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 |
17 | g.7670610del | CA497712407 | TP53 | c.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 |
17 | g.7670610T>A | CA397831743 | TP53 | c.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) | |
17 | g.7670610T>C | CA10580903 | TP53 | c.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 |
17 | g.7670610T>G | CA397831746 | TP53 | c.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=) | |
17 | g.7670610T= | CA2245942278 | TP53 | c.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=) | |
17 | g.7670611G>A | CA497712411 | TP53 | c.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 |
17 | g.7670611G>C | CA497712414 | TP53 | c.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 |
17 | g.7670611G>T | CA497712416 | TP53 | c.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=) | |
17 | g.7670612G>A | CA397831752 | TP53 | c.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 |
17 | g.7670612G>C | CA397831748 | TP53 | c.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 |
17 | g.7670612G= | CA2245942279 | TP53 | c.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=) | |
17 | g.7670612G>T | CA397831749 | TP53 | c.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 |
17 | g.7670613A= | CA2245942287 | TP53 | c.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=) | |
17 | g.7670613A>C | CA000036 | TP53 | c.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 |
17 | g.7670613A>G | CA397831755 | TP53 | c.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 |
17 | g.7670613A>T | CA397831757 | TP53 | c.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 |
17 | g.7670614G>A | CA497712428 | TP53 | c.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 |
17 | g.7670614G>C | CA397831759 | TP53 | c.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 |
17 | g.7670614G>T | CA397831760 | TP53 | c.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) | |
17 | g.7670615T>A | CA397831784 | TP53 | c.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 |
17 | g.7670615T>C | CA397831785 | TP53 | c.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) | |
17 | g.7670615T>G | CA397831787 | TP53 | c.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 |
17 | g.7670616_7670715del | CA645587290 | TP53 | c.995_1094del (p.Ile332ThrfsTer5) c.599_698del (p.Ile200ThrfsTer5) c.716_815del (p.Ile239ThrfsTer5) c.974_1073del (p.Ile325ThrfsTer5) c.993+2821_993+2920del (n.993+2821_993+2920del) c.782+3467_782+3566del (n.782+3467_782+3566del) c.*102_*201del (n.*102_*201del) c.*14_*113del (n.*14_*113del) c.54-1024_54-925del c.878_977del (p.Ile293ThrfsTer5) c.962_1061del (p.Ile321ThrfsTer5) c.518_617del (p.Ile173ThrfsTer5) c.878_977del (p.Ile293ThrfsTer23) | COSMIC |
17 | g.7670616G>A | CA000035 | TP53 | c.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 |
17 | g.7670616G>C | CA397831798 | TP53 | c.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 |
17 | g.7670616G= | CA2245942297 | TP53 | c.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=) | |
17 | g.7670616G>T | CA397831804 | TP53 | c.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) | |
17 | g.7670617A>C | CA497712442 | TP53 | c.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=) | |
17 | g.7670617A>G | CA497712438 | TP53 | c.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 |
17 | g.7670617A>T | CA497712437 | TP53 | c.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 |
17 | g.7670618G>A | CA397831830 | TP53 | c.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 |
17 | g.7670618G>C | CA397831811 | TP53 | c.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 |
17 | g.7670618G= | CA2245942304 | TP53 | c.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=) | |
17 | g.7670618G>T | CA397831807 | TP53 | c.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) | |
17 | g.7670619C>A | CA397831837 | TP53 | c.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 |
17 | g.7670619C= | CA2245942313 | TP53 | c.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=) | |
17 | g.7670619C>G | CA397831838 | TP53 | c.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 |
17 | g.7670619C>T | CA397831839 | TP53 | c.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 |
17 | g.7670620C>A | CA397831840 | TP53 | c.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 |
17 | g.7670620C= | CA2245942321 | TP53 | c.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=) | |
17 | g.7670620C>G | CA397831841 | TP53 | c.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 |
17 | g.7670620C>T | CA497712468 | TP53 | c.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 |
17 | g.7670621C>A | CA397831842 | TP53 | c.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) | |
17 | g.7670621C= | CA2245942327 | TP53 | c.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=) | |
17 | g.7670621C>G | CA397831843 | TP53 | c.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) | |
17 | g.7670621C>T | CA10580904 | TP53 | c.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 |
17 | g.7670621_7670622delinsAG | CA2831039393 | TP53 | c.1087_1088delinsCT (p.Arg363Leu) c.691_692delinsCT (p.Arg231Leu) c.808_809delinsCT (p.Arg270Leu) c.1066_1067delinsCT (p.Arg356Leu) c.993+2913_993+2914delinsCT (n.993+2913_993+2914delinsCT) c.782+3559_782+3560delinsCT (n.782+3559_782+3560delinsCT) c.*194_*195delinsCT (n.*194_*195delinsCT) c.*106_*107delinsCT (n.*106_*107delinsCT) c.54-932_54-931delinsCT c.970_971delinsCT (p.Arg324Leu) c.1054_1055delinsCT (p.Arg352Leu) c.610_611delinsCT (p.Arg204Leu) | |
17 | g.7670622T>A | CA397831848 | TP53 | c.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) | |
17 | g.7670622T>C | CA000033 | TP53 | c.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 |
17 | g.7670622T>G | CA497712474 | TP53 | c.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=) | |
17 | g.7670622T= | CA2245942349 | TP53 | c.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=) | |
17 | g.7670623G>A | CA497712479 | TP53 | c.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 |
17 | g.7670623G>C | CA397831854 | TP53 | c.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 |
17 | g.7670623G>T | CA397831855 | TP53 | c.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 |
17 | g.7670624C>A | CA000768 | TP53 | c.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 |
17 | g.7670624C= | CA2245942361 | TP53 | c.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=) | |
17 | g.7670624C>G | CA397831859 | TP53 | c.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) | |
17 | g.7670624C>T | CA397831856 | TP53 | c.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 |
17 | g.7670624dup | CA2838216223 | TP53 | c.1085dup (p.Ser362ArgfsTer20) c.689dup (p.Ser230ArgfsTer20) c.806dup (p.Ser269ArgfsTer20) c.1064dup (p.Ser355ArgfsTer20) c.993+2911dup (n.993+2911dup) c.782+3557dup (n.782+3557dup) c.*192dup (n.*192dup) c.*104dup (n.*104dup) c.54-934dup c.968dup (p.Ser323ArgfsTer20) c.1052dup (p.Ser351ArgfsTer20) c.608dup (p.Ser203ArgfsTer20) c.968dup (p.Ser323ArgfsTer25) | |
17 | g.7670625del | CA497712491 | TP53 | c.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 |
17 | g.7670625T>A | CA397831862 | TP53 | c.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 |
17 | g.7670625T>C | CA397831868 | TP53 | c.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 |
17 | g.7670625T>G | CA397831873 | TP53 | c.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) | |
17 | g.7670625T= | CA2245942387 | TP53 | c.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=) | |
17 | g.7670625_7670626delinsTC | CA2245942392 | TP53 | c.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=) | |
17 | g.7670626C>A | CA497712494 | TP53 | c.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 |
17 | g.7670626C= | CA2245942407 | TP53 | c.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=) | |
17 | g.7670626C>G | CA497712496 | TP53 | c.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 |
17 | g.7670626C>T | CA10587282 | TP53 | c.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 |
17 | g.7670631dup | CA2695224214 | TP53 | c.1083dup (p.Ser362GlufsTer20) c.687dup (p.Ser230GlufsTer20) c.804dup (p.Ser269GlufsTer20) c.1062dup (p.Ser355GlufsTer20) c.993+2909dup (n.993+2909dup) c.782+3555dup (n.782+3555dup) c.*190dup (n.*190dup) c.*102dup (n.*102dup) c.54-936dup c.966dup (p.Ser323GlufsTer20) c.1050dup (p.Ser351GlufsTer20) c.606dup (p.Ser203GlufsTer20) c.966dup (p.Ser323GlufsTer25) | |
17 | g.7670631del | CA645587291 | TP53 | c.1083del (p.Ser362AlafsTer8) c.687del (p.Ser230AlafsTer8) c.804del (p.Ser269AlafsTer8) c.1062del (p.Ser355AlafsTer8) c.993+2909del (n.993+2909del) c.782+3555del (n.782+3555del) c.*190del (n.*190del) c.*102del (n.*102del) c.54-936del c.966del (p.Ser323AlafsTer8) c.1050del (p.Ser351AlafsTer8) c.606del (p.Ser203AlafsTer8) c.966del (p.Ser323AlafsTer26) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.7670627C>A | CA397831885 | TP53 | c.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) | |
17 | g.7670627C= | CA2245942419 | TP53 | c.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=) | |
17 | g.7670627C>G | CA397831882 | TP53 | c.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) | |
17 | g.7670627C>T | CA000032 | TP53 | c.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 |
17 | g.7670628C>A | CA397831891 | TP53 | c.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) | |
17 | g.7670628C= | CA2245942423 | TP53 | c.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=) | |
17 | g.7670628C>G | CA397831894 | TP53 | c.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 |
17 | g.7670628C>T | CA397831897 | TP53 | c.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 |
17 | g.7670628_7670666del | CA645587292 | TP53 | c.1043_1081del (p.Leu348_Gly361delinsTrp) c.647_685del (p.Leu216_Gly229delinsTrp) c.764_802del (p.Leu255_Gly268delinsTrp) c.1022_1060del (p.Leu341_Gly354delinsTrp) c.993+2869_993+2907del (n.993+2869_993+2907del) c.782+3515_782+3553del (n.782+3515_782+3553del) c.*150_*188del (n.*150_*188del) c.*62_*100del (n.*62_*100del) c.54-976_54-938del c.926_964del (p.Leu309_Gly322delinsTrp) c.1010_1048del (p.Leu337_Gly350delinsTrp) c.566_604del (p.Leu189_Gly202delinsTrp) | COSMIC |
17 | g.7670629C>A | CA497712508 | TP53 | c.1080G>T (p.Gly360=) c.684G>T (p.Gly228=) c.801G>T (p.Gly267=) c.1059G>T (p.Gly353=) c.993+2906G>T (n.993+2906G>T) c.782+3552G>T (n.782+3552G>T) c.*187G>T (n.*187G>T) c.*99G>T (n.*99G>T) c.54-939G>T c.963G>T (p.Gly321=) c.1047G>T (p.Gly349=) c.603G>T (p.Gly201=) | ClinVar dbSNP |
17 | g.7670629C>G | CA497712509 | TP53 | c.1080G>C (p.Gly360=) c.684G>C (p.Gly228=) c.801G>C (p.Gly267=) c.1059G>C (p.Gly353=) c.993+2906G>C (n.993+2906G>C) c.782+3552G>C (n.782+3552G>C) c.*187G>C (n.*187G>C) c.*99G>C (n.*99G>C) c.54-939G>C c.963G>C (p.Gly321=) c.1047G>C (p.Gly349=) c.603G>C (p.Gly201=) | ClinVar dbSNP |
17 | g.7670629C>T | CA497712510 | TP53 | c.1080G>A (p.Gly360=) c.684G>A (p.Gly228=) c.801G>A (p.Gly267=) c.1059G>A (p.Gly353=) c.993+2906G>A (n.993+2906G>A) c.782+3552G>A (n.782+3552G>A) c.*187G>A (n.*187G>A) c.*99G>A (n.*99G>A) c.54-939G>A c.963G>A (p.Gly321=) c.1047G>A (p.Gly349=) c.603G>A (p.Gly201=) | ClinVar gnomAD v4 |
17 | g.7670630C>A | CA000030 | TP53 | c.1079G>T (p.Gly360Val) c.683G>T (p.Gly228Val) c.800G>T (p.Gly267Val) c.1058G>T (p.Gly353Val) c.993+2905G>T (n.993+2905G>T) c.782+3551G>T (n.782+3551G>T) c.*186G>T (n.*186G>T) c.*98G>T (n.*98G>T) c.54-940G>T c.962G>T (p.Gly321Val) c.1046G>T (p.Gly349Val) c.602G>T (p.Gly201Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670630C= | CA2245942440 | TP53 | c.1079G= (p.Gly360=) c.683G= (p.Gly228=) c.800G= (p.Gly267=) c.1058G= (p.Gly353=) c.993+2905G= (n.993+2905G=) c.782+3551G= (n.782+3551G=) c.*186G= (n.*186G=) c.*98G= (n.*98G=) c.54-940G= c.962G= (p.Gly321=) c.1046G= (p.Gly349=) c.602G= (p.Gly201=) | |
17 | g.7670630C>G | CA000029 | TP53 | c.1079G>C (p.Gly360Ala) c.683G>C (p.Gly228Ala) c.800G>C (p.Gly267Ala) c.1058G>C (p.Gly353Ala) c.993+2905G>C (n.993+2905G>C) c.782+3551G>C (n.782+3551G>C) c.*186G>C (n.*186G>C) c.*98G>C (n.*98G>C) c.54-940G>C c.962G>C (p.Gly321Ala) c.1046G>C (p.Gly349Ala) c.602G>C (p.Gly201Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670630C>T | CA10580905 | TP53 | c.1079G>A (p.Gly360Glu) c.683G>A (p.Gly228Glu) c.800G>A (p.Gly267Glu) c.1058G>A (p.Gly353Glu) c.993+2905G>A (n.993+2905G>A) c.782+3551G>A (n.782+3551G>A) c.*186G>A (n.*186G>A) c.*98G>A (n.*98G>A) c.54-940G>A c.962G>A (p.Gly321Glu) c.1046G>A (p.Gly349Glu) c.602G>A (p.Gly201Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7670631C>A | CA397831928 | TP53 | c.1078G>T (p.Gly360Trp) c.682G>T (p.Gly228Trp) c.799G>T (p.Gly267Trp) c.1057G>T (p.Gly353Trp) c.993+2904G>T (n.993+2904G>T) c.782+3550G>T (n.782+3550G>T) c.*185G>T (n.*185G>T) c.*97G>T (n.*97G>T) c.54-941G>T c.961G>T (p.Gly321Trp) c.1045G>T (p.Gly349Trp) c.601G>T (p.Gly201Trp) | ClinVar dbSNP |
17 | g.7670631C= | CA2245942456 | TP53 | c.1078G= (p.Gly360=) c.682G= (p.Gly228=) c.799G= (p.Gly267=) c.1057G= (p.Gly353=) c.993+2904G= (n.993+2904G=) c.782+3550G= (n.782+3550G=) c.*185G= (n.*185G=) c.*97G= (n.*97G=) c.54-941G= c.961G= (p.Gly321=) c.1045G= (p.Gly349=) c.601G= (p.Gly201=) | |
17 | g.7670631C>G | CA397831931 | TP53 | c.1078G>C (p.Gly360Arg) c.682G>C (p.Gly228Arg) c.799G>C (p.Gly267Arg) c.1057G>C (p.Gly353Arg) c.993+2904G>C (n.993+2904G>C) c.782+3550G>C (n.782+3550G>C) c.*185G>C (n.*185G>C) c.*97G>C (n.*97G>C) c.54-941G>C c.961G>C (p.Gly321Arg) c.1045G>C (p.Gly349Arg) c.601G>C (p.Gly201Arg) | ClinVar dbSNP |
17 | g.7670631C>T | CA000028 | TP53 | c.1078G>A (p.Gly360Arg) c.682G>A (p.Gly228Arg) c.799G>A (p.Gly267Arg) c.1057G>A (p.Gly353Arg) c.993+2904G>A (n.993+2904G>A) c.782+3550G>A (n.782+3550G>A) c.*185G>A (n.*185G>A) c.*97G>A (n.*97G>A) c.54-941G>A c.961G>A (p.Gly321Arg) c.1045G>A (p.Gly349Arg) c.601G>A (p.Gly201Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670631_7670632delinsCT | CA2245942462 | TP53 | c.1077_1078delinsAG (p.Pro359=) c.681_682delinsAG (p.Pro227=) c.798_799delinsAG (p.Pro266=) c.1056_1057delinsAG (p.Pro352=) c.993+2903_993+2904delinsAG (n.993+2903_993+2904delinsAG) c.782+3549_782+3550delinsAG (n.782+3549_782+3550delinsAG) c.*184_*185delinsAG (n.*184_*185delinsAG) c.*96_*97delinsAG (n.*96_*97delinsAG) c.54-942_54-941delinsAG c.960_961delinsAG (p.Pro320=) c.1044_1045delinsAG (p.Pro348=) c.600_601delinsAG (p.Pro200=) | |
17 | g.7670632del | CA658824695 | TP53 | c.1077del (p.Ser362AlafsTer8) c.681del (p.Ser230AlafsTer8) c.798del (p.Ser269AlafsTer8) c.1056del (p.Ser355AlafsTer8) c.993+2903del (n.993+2903del) c.782+3549del (n.782+3549del) c.*184del (n.*184del) c.*96del (n.*96del) c.54-942del c.960del (p.Ser323AlafsTer8) c.1044del (p.Ser351AlafsTer8) c.600del (p.Ser203AlafsTer8) c.960del (p.Ser323AlafsTer26) | ClinVar dbSNP |
17 | g.7670632T>A | CA497712511 | TP53 | c.1077A>T (p.Pro359=) c.681A>T (p.Pro227=) c.798A>T (p.Pro266=) c.1056A>T (p.Pro352=) c.993+2903A>T (n.993+2903A>T) c.782+3549A>T (n.782+3549A>T) c.*184A>T (n.*184A>T) c.*96A>T (n.*96A>T) c.54-942A>T c.960A>T (p.Pro320=) c.1044A>T (p.Pro348=) c.600A>T (p.Pro200=) | |
17 | g.7670632T>C | CA000783 | TP53 | c.1077A>G (p.Pro359=) c.681A>G (p.Pro227=) c.798A>G (p.Pro266=) c.1056A>G (p.Pro352=) c.993+2903A>G (n.993+2903A>G) c.782+3549A>G (n.782+3549A>G) c.*184A>G (n.*184A>G) c.*96A>G (n.*96A>G) c.54-942A>G c.960A>G (p.Pro320=) c.1044A>G (p.Pro348=) c.600A>G (p.Pro200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670632T>G | CA497712512 | TP53 | c.1077A>C (p.Pro359=) c.681A>C (p.Pro227=) c.798A>C (p.Pro266=) c.1056A>C (p.Pro352=) c.993+2903A>C (n.993+2903A>C) c.782+3549A>C (n.782+3549A>C) c.*184A>C (n.*184A>C) c.*96A>C (n.*96A>C) c.54-942A>C c.960A>C (p.Pro320=) c.1044A>C (p.Pro348=) c.600A>C (p.Pro200=) | ClinVar |
17 | g.7670632T= | CA2245942476 | TP53 | c.1077A= (p.Pro359=) c.681A= (p.Pro227=) c.798A= (p.Pro266=) c.1056A= (p.Pro352=) c.993+2903A= (n.993+2903A=) c.782+3549A= (n.782+3549A=) c.*184A= (n.*184A=) c.*96A= (n.*96A=) c.54-942A= c.960A= (p.Pro320=) c.1044A= (p.Pro348=) c.600A= (p.Pro200=) | |
17 | g.7670633G>A | CA397831943 | TP53 | c.1076C>T (p.Pro359Leu) c.680C>T (p.Pro227Leu) c.797C>T (p.Pro266Leu) c.1055C>T (p.Pro352Leu) c.993+2902C>T (n.993+2902C>T) c.782+3548C>T (n.782+3548C>T) c.*183C>T (n.*183C>T) c.*95C>T (n.*95C>T) c.54-943C>T c.959C>T (p.Pro320Leu) c.1043C>T (p.Pro348Leu) c.599C>T (p.Pro200Leu) | dbSNP gnomAD v2 |
17 | g.7670633G>C | CA397831936 | TP53 | c.1076C>G (p.Pro359Arg) c.680C>G (p.Pro227Arg) c.797C>G (p.Pro266Arg) c.1055C>G (p.Pro352Arg) c.993+2902C>G (n.993+2902C>G) c.782+3548C>G (n.782+3548C>G) c.*183C>G (n.*183C>G) c.*95C>G (n.*95C>G) c.54-943C>G c.959C>G (p.Pro320Arg) c.1043C>G (p.Pro348Arg) c.599C>G (p.Pro200Arg) | ClinVar dbSNP |
17 | g.7670633G= | CA2245942486 | TP53 | c.1076C= (p.Pro359=) c.680C= (p.Pro227=) c.797C= (p.Pro266=) c.1055C= (p.Pro352=) c.993+2902C= (n.993+2902C=) c.782+3548C= (n.782+3548C=) c.*183C= (n.*183C=) c.*95C= (n.*95C=) c.54-943C= c.959C= (p.Pro320=) c.1043C= (p.Pro348=) c.599C= (p.Pro200=) | |
17 | g.7670633G>T | CA397831947 | TP53 | c.1076C>A (p.Pro359Gln) c.680C>A (p.Pro227Gln) c.797C>A (p.Pro266Gln) c.1055C>A (p.Pro352Gln) c.993+2902C>A (n.993+2902C>A) c.782+3548C>A (n.782+3548C>A) c.*183C>A (n.*183C>A) c.*95C>A (n.*95C>A) c.54-943C>A c.959C>A (p.Pro320Gln) c.1043C>A (p.Pro348Gln) c.599C>A (p.Pro200Gln) | |
17 | g.7670634G>A | CA397831951 | TP53 | c.1075C>T (p.Pro359Ser) c.679C>T (p.Pro227Ser) c.796C>T (p.Pro266Ser) c.1054C>T (p.Pro352Ser) c.993+2901C>T (n.993+2901C>T) c.782+3547C>T (n.782+3547C>T) c.*182C>T (n.*182C>T) c.*94C>T (n.*94C>T) c.54-944C>T c.958C>T (p.Pro320Ser) c.1042C>T (p.Pro348Ser) c.598C>T (p.Pro200Ser) | dbSNP COSMIC |
17 | g.7670634G>C | CA397831962 | TP53 | c.1075C>G (p.Pro359Ala) c.679C>G (p.Pro227Ala) c.796C>G (p.Pro266Ala) c.1054C>G (p.Pro352Ala) c.993+2901C>G (n.993+2901C>G) c.782+3547C>G (n.782+3547C>G) c.*182C>G (n.*182C>G) c.*94C>G (n.*94C>G) c.54-944C>G c.958C>G (p.Pro320Ala) c.1042C>G (p.Pro348Ala) c.598C>G (p.Pro200Ala) | dbSNP |
17 | g.7670634G>T | CA397831971 | TP53 | c.1075C>A (p.Pro359Thr) c.679C>A (p.Pro227Thr) c.796C>A (p.Pro266Thr) c.1054C>A (p.Pro352Thr) c.993+2901C>A (n.993+2901C>A) c.782+3547C>A (n.782+3547C>A) c.*182C>A (n.*182C>A) c.*94C>A (n.*94C>A) c.54-944C>A c.958C>A (p.Pro320Thr) c.1042C>A (p.Pro348Thr) c.598C>A (p.Pro200Thr) | dbSNP |
17 | g.7670635C>A | CA397831980 | TP53 | c.1074G>T (p.Glu358Asp) c.678G>T (p.Glu226Asp) c.795G>T (p.Glu265Asp) c.1053G>T (p.Glu351Asp) c.993+2900G>T (n.993+2900G>T) c.782+3546G>T (n.782+3546G>T) c.*181G>T (n.*181G>T) c.*93G>T (n.*93G>T) c.54-945G>T c.957G>T (p.Glu319Asp) c.1041G>T (p.Glu347Asp) c.597G>T (p.Glu199Asp) | |
17 | g.7670635C>G | CA397831984 | TP53 | c.1074G>C (p.Glu358Asp) c.678G>C (p.Glu226Asp) c.795G>C (p.Glu265Asp) c.1053G>C (p.Glu351Asp) c.993+2900G>C (n.993+2900G>C) c.782+3546G>C (n.782+3546G>C) c.*181G>C (n.*181G>C) c.*93G>C (n.*93G>C) c.54-945G>C c.957G>C (p.Glu319Asp) c.1041G>C (p.Glu347Asp) c.597G>C (p.Glu199Asp) | dbSNP |
17 | g.7670635C>T | CA497712513 | TP53 | c.1074G>A (p.Glu358=) c.678G>A (p.Glu226=) c.795G>A (p.Glu265=) c.1053G>A (p.Glu351=) c.993+2900G>A (n.993+2900G>A) c.782+3546G>A (n.782+3546G>A) c.*181G>A (n.*181G>A) c.*93G>A (n.*93G>A) c.54-945G>A c.957G>A (p.Glu319=) c.1041G>A (p.Glu347=) c.597G>A (p.Glu199=) | |
17 | g.7670636T>A | CA000790 | TP53 | c.1073A>T (p.Glu358Val) c.677A>T (p.Glu226Val) c.794A>T (p.Glu265Val) c.1052A>T (p.Glu351Val) c.993+2899A>T (n.993+2899A>T) c.782+3545A>T (n.782+3545A>T) c.*180A>T (n.*180A>T) c.*92A>T (n.*92A>T) c.54-946A>T c.956A>T (p.Glu319Val) c.1040A>T (p.Glu347Val) c.596A>T (p.Glu199Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.7670636T>C | CA397831988 | TP53 | c.1073A>G (p.Glu358Gly) c.677A>G (p.Glu226Gly) c.794A>G (p.Glu265Gly) c.1052A>G (p.Glu351Gly) c.993+2899A>G (n.993+2899A>G) c.782+3545A>G (n.782+3545A>G) c.*180A>G (n.*180A>G) c.*92A>G (n.*92A>G) c.54-946A>G c.956A>G (p.Glu319Gly) c.1040A>G (p.Glu347Gly) c.596A>G (p.Glu199Gly) | |
17 | g.7670636T>G | CA397832002 | TP53 | c.1073A>C (p.Glu358Ala) c.677A>C (p.Glu226Ala) c.794A>C (p.Glu265Ala) c.1052A>C (p.Glu351Ala) c.993+2899A>C (n.993+2899A>C) c.782+3545A>C (n.782+3545A>C) c.*180A>C (n.*180A>C) c.*92A>C (n.*92A>C) c.54-946A>C c.956A>C (p.Glu319Ala) c.1040A>C (p.Glu347Ala) c.596A>C (p.Glu199Ala) | |
17 | g.7670636T= | CA2245942494 | TP53 | c.1073A= (p.Glu358=) c.677A= (p.Glu226=) c.794A= (p.Glu265=) c.1052A= (p.Glu351=) c.993+2899A= (n.993+2899A=) c.782+3545A= (n.782+3545A=) c.*180A= (n.*180A=) c.*92A= (n.*92A=) c.54-946A= c.956A= (p.Glu319=) c.1040A= (p.Glu347=) c.596A= (p.Glu199=) | |
17 | g.7670637C>A | CA397832009 | TP53 | c.1072G>T (p.Glu358Ter) c.676G>T (p.Glu226Ter) c.793G>T (p.Glu265Ter) c.1051G>T (p.Glu351Ter) c.993+2898G>T (n.993+2898G>T) c.782+3544G>T (n.782+3544G>T) c.*179G>T (n.*179G>T) c.*91G>T (n.*91G>T) c.54-947G>T c.955G>T (p.Glu319Ter) c.1039G>T (p.Glu347Ter) c.595G>T (p.Glu199Ter) | |
17 | g.7670637C= | CA2245942505 | TP53 | c.1072G= (p.Glu358=) c.676G= (p.Glu226=) c.793G= (p.Glu265=) c.1051G= (p.Glu351=) c.993+2898G= (n.993+2898G=) c.782+3544G= (n.782+3544G=) c.*179G= (n.*179G=) c.*91G= (n.*91G=) c.54-947G= c.955G= (p.Glu319=) c.1039G= (p.Glu347=) c.595G= (p.Glu199=) | |
17 | g.7670637C>G | CA397832022 | TP53 | c.1072G>C (p.Glu358Gln) c.676G>C (p.Glu226Gln) c.793G>C (p.Glu265Gln) c.1051G>C (p.Glu351Gln) c.993+2898G>C (n.993+2898G>C) c.782+3544G>C (n.782+3544G>C) c.*179G>C (n.*179G>C) c.*91G>C (n.*91G>C) c.54-947G>C c.955G>C (p.Glu319Gln) c.1039G>C (p.Glu347Gln) c.595G>C (p.Glu199Gln) | gnomAD v4 |
17 | g.7670637C>T | CA000027 | TP53 | c.1072G>A (p.Glu358Lys) c.676G>A (p.Glu226Lys) c.793G>A (p.Glu265Lys) c.1051G>A (p.Glu351Lys) c.993+2898G>A (n.993+2898G>A) c.782+3544G>A (n.782+3544G>A) c.*179G>A (n.*179G>A) c.*91G>A (n.*91G>A) c.54-947G>A c.955G>A (p.Glu319Lys) c.1039G>A (p.Glu347Lys) c.595G>A (p.Glu199Lys) | ClinVar dbSNP COSMIC |
17 | g.7670638dup | CA2840326738 | TP53 | c.1072dup (p.Glu358GlyfsTer24) c.676dup (p.Glu226GlyfsTer24) c.793dup (p.Glu265GlyfsTer24) c.1051dup (p.Glu351GlyfsTer24) c.993+2898dup (n.993+2898dup) c.782+3544dup (n.782+3544dup) c.*179dup (n.*179dup) c.*91dup (n.*91dup) c.54-947dup c.955dup (p.Glu319GlyfsTer24) c.1039dup (p.Glu347GlyfsTer24) c.595dup (p.Glu199GlyfsTer24) c.955dup (p.Glu319GlyfsTer29) | |
17 | g.7670638C>A | CA397832036 | TP53 | c.1071G>T (p.Lys357Asn) c.675G>T (p.Lys225Asn) c.792G>T (p.Lys264Asn) c.1050G>T (p.Lys350Asn) c.993+2897G>T (n.993+2897G>T) c.782+3543G>T (n.782+3543G>T) c.*178G>T (n.*178G>T) c.*90G>T (n.*90G>T) c.54-948G>T c.954G>T (p.Lys318Asn) c.1038G>T (p.Lys346Asn) c.594G>T (p.Lys198Asn) | dbSNP |
17 | g.7670638C>G | CA397832042 | TP53 | c.1071G>C (p.Lys357Asn) c.675G>C (p.Lys225Asn) c.792G>C (p.Lys264Asn) c.1050G>C (p.Lys350Asn) c.993+2897G>C (n.993+2897G>C) c.782+3543G>C (n.782+3543G>C) c.*178G>C (n.*178G>C) c.*90G>C (n.*90G>C) c.54-948G>C c.954G>C (p.Lys318Asn) c.1038G>C (p.Lys346Asn) c.594G>C (p.Lys198Asn) | dbSNP |
17 | g.7670638C>T | CA497712514 | TP53 | c.1071G>A (p.Lys357=) c.675G>A (p.Lys225=) c.792G>A (p.Lys264=) c.1050G>A (p.Lys350=) c.993+2897G>A (n.993+2897G>A) c.782+3543G>A (n.782+3543G>A) c.*178G>A (n.*178G>A) c.*90G>A (n.*90G>A) c.54-948G>A c.954G>A (p.Lys318=) c.1038G>A (p.Lys346=) c.594G>A (p.Lys198=) | dbSNP gnomAD v4 |
17 | g.7670639T>A | CA397832057 | TP53 | c.1070A>T (p.Lys357Met) c.674A>T (p.Lys225Met) c.791A>T (p.Lys264Met) c.1049A>T (p.Lys350Met) c.993+2896A>T (n.993+2896A>T) c.782+3542A>T (n.782+3542A>T) c.*177A>T (n.*177A>T) c.*89A>T (n.*89A>T) c.54-949A>T c.953A>T (p.Lys318Met) c.1037A>T (p.Lys346Met) c.593A>T (p.Lys198Met) | dbSNP |
17 | g.7670639T>C | CA000797 | TP53 | c.1070A>G (p.Lys357Arg) c.674A>G (p.Lys225Arg) c.791A>G (p.Lys264Arg) c.1049A>G (p.Lys350Arg) c.993+2896A>G (n.993+2896A>G) c.782+3542A>G (n.782+3542A>G) c.*177A>G (n.*177A>G) c.*89A>G (n.*89A>G) c.54-949A>G c.953A>G (p.Lys318Arg) c.1037A>G (p.Lys346Arg) c.593A>G (p.Lys198Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7670639T>G | CA397832054 | TP53 | c.1070A>C (p.Lys357Thr) c.674A>C (p.Lys225Thr) c.791A>C (p.Lys264Thr) c.1049A>C (p.Lys350Thr) c.993+2896A>C (n.993+2896A>C) c.782+3542A>C (n.782+3542A>C) c.*177A>C (n.*177A>C) c.*89A>C (n.*89A>C) c.54-949A>C c.953A>C (p.Lys318Thr) c.1037A>C (p.Lys346Thr) c.593A>C (p.Lys198Thr) | ClinVar |
17 | g.7670639T= | CA2245942515 | TP53 | c.1070A= (p.Lys357=) c.674A= (p.Lys225=) c.791A= (p.Lys264=) c.1049A= (p.Lys350=) c.993+2896A= (n.993+2896A=) c.782+3542A= (n.782+3542A=) c.*177A= (n.*177A=) c.*89A= (n.*89A=) c.54-949A= c.953A= (p.Lys318=) c.1037A= (p.Lys346=) c.593A= (p.Lys198=) | |
17 | g.7670642_7670677del | CA645587293 | TP53 | c.1035_1070del (p.Asn345_Gly356del) c.639_674del (p.Asn213_Gly224del) c.756_791del (p.Asn252_Gly263del) c.1014_1049del (p.Asn338_Gly349del) c.993+2861_993+2896del (n.993+2861_993+2896del) c.782+3507_782+3542del (n.782+3507_782+3542del) c.*142_*177del (n.*142_*177del) c.*54_*89del (n.*54_*89del) c.54-984_54-949del c.918_953del (p.Asn306_Gly317del) c.1002_1037del (p.Asn334_Gly345del) c.558_593del (p.Asn186_Gly197del) | COSMIC COSMIC |
17 | g.7670640T>A | CA397832076 | TP53 | c.1069A>T (p.Lys357Ter) c.673A>T (p.Lys225Ter) c.790A>T (p.Lys264Ter) c.1048A>T (p.Lys350Ter) c.993+2895A>T (n.993+2895A>T) c.782+3541A>T (n.782+3541A>T) c.*176A>T (n.*176A>T) c.*88A>T (n.*88A>T) c.54-950A>T c.952A>T (p.Lys318Ter) c.1036A>T (p.Lys346Ter) c.592A>T (p.Lys198Ter) | |
17 | g.7670640T>C | CA397832082 | TP53 | c.1069A>G (p.Lys357Glu) c.673A>G (p.Lys225Glu) c.790A>G (p.Lys264Glu) c.1048A>G (p.Lys350Glu) c.993+2895A>G (n.993+2895A>G) c.782+3541A>G (n.782+3541A>G) c.*176A>G (n.*176A>G) c.*88A>G (n.*88A>G) c.54-950A>G c.952A>G (p.Lys318Glu) c.1036A>G (p.Lys346Glu) c.592A>G (p.Lys198Glu) | ClinVar dbSNP |
17 | g.7670640T>G | CA397832092 | TP53 | c.1069A>C (p.Lys357Gln) c.673A>C (p.Lys225Gln) c.790A>C (p.Lys264Gln) c.1048A>C (p.Lys350Gln) c.993+2895A>C (n.993+2895A>C) c.782+3541A>C (n.782+3541A>C) c.*176A>C (n.*176A>C) c.*88A>C (n.*88A>C) c.54-950A>C c.952A>C (p.Lys318Gln) c.1036A>C (p.Lys346Gln) c.592A>C (p.Lys198Gln) | |
17 | g.7670640T= | CA2245942520 | TP53 | c.1069A= (p.Lys357=) c.673A= (p.Lys225=) c.790A= (p.Lys264=) c.1048A= (p.Lys350=) c.993+2895A= (n.993+2895A=) c.782+3541A= (n.782+3541A=) c.*176A= (n.*176A=) c.*88A= (n.*88A=) c.54-950A= c.952A= (p.Lys318=) c.1036A= (p.Lys346=) c.592A= (p.Lys198=) | |
17 | g.7670640_7670670delinsAAGGT | CA645587294 | TP53 | c.1039_1069delinsACCTT (p.Ala347ThrfsTer26) c.643_673delinsACCTT (p.Ala215ThrfsTer26) c.760_790delinsACCTT (p.Ala254ThrfsTer26) c.1018_1048delinsACCTT (p.Ala340ThrfsTer26) c.993+2865_993+2895delinsACCTT (n.993+2865_993+2895delinsACCTT) c.782+3511_782+3541delinsACCTT (n.782+3511_782+3541delinsACCTT) c.*146_*176delinsACCTT (n.*146_*176delinsACCTT) c.*58_*88delinsACCTT (n.*58_*88delinsACCTT) c.54-980_54-950delinsACCTT c.922_952delinsACCTT (p.Ala308ThrfsTer26) c.1006_1036delinsACCTT (p.Ala336ThrfsTer26) c.562_592delinsACCTT (p.Ala188ThrfsTer26) c.922_952delinsACCTT (p.Ala308ThrfsTer31) | COSMIC |
17 | g.7670641C>A | CA497712519 | TP53 | c.1068G>T (p.Gly356=) c.672G>T (p.Gly224=) c.789G>T (p.Gly263=) c.1047G>T (p.Gly349=) c.993+2894G>T (n.993+2894G>T) c.782+3540G>T (n.782+3540G>T) c.*175G>T (n.*175G>T) c.*87G>T (n.*87G>T) c.54-951G>T c.951G>T (p.Gly317=) c.1035G>T (p.Gly345=) c.591G>T (p.Gly197=) | |
17 | g.7670641C>G | CA497712520 | TP53 | c.1068G>C (p.Gly356=) c.672G>C (p.Gly224=) c.789G>C (p.Gly263=) c.1047G>C (p.Gly349=) c.993+2894G>C (n.993+2894G>C) c.782+3540G>C (n.782+3540G>C) c.*175G>C (n.*175G>C) c.*87G>C (n.*87G>C) c.54-951G>C c.951G>C (p.Gly317=) c.1035G>C (p.Gly345=) c.591G>C (p.Gly197=) | ClinVar dbSNP |
17 | g.7670641C>T | CA497712522 | TP53 | c.1068G>A (p.Gly356=) c.672G>A (p.Gly224=) c.789G>A (p.Gly263=) c.1047G>A (p.Gly349=) c.993+2894G>A (n.993+2894G>A) c.782+3540G>A (n.782+3540G>A) c.*175G>A (n.*175G>A) c.*87G>A (n.*87G>A) c.54-951G>A c.951G>A (p.Gly317=) c.1035G>A (p.Gly345=) c.591G>A (p.Gly197=) | dbSNP |
17 | g.7670643del | CA497712523 | TP53 | c.1068del (p.Lys357ArgfsTer13) c.672del (p.Lys225ArgfsTer13) c.789del (p.Lys264ArgfsTer13) c.1047del (p.Lys350ArgfsTer13) c.993+2894del (n.993+2894del) c.782+3540del (n.782+3540del) c.*175del (n.*175del) c.*87del (n.*87del) c.54-951del c.951del (p.Lys318ArgfsTer13) c.1035del (p.Lys346ArgfsTer13) c.591del (p.Lys198ArgfsTer13) c.951del (p.Lys318ArgfsTer?) | COSMIC |
17 | g.7670642C>A | CA397832097 | TP53 | c.1067G>T (p.Gly356Val) c.671G>T (p.Gly224Val) c.788G>T (p.Gly263Val) c.1046G>T (p.Gly349Val) c.993+2893G>T (n.993+2893G>T) c.782+3539G>T (n.782+3539G>T) c.*174G>T (n.*174G>T) c.*86G>T (n.*86G>T) c.54-952G>T c.950G>T (p.Gly317Val) c.1034G>T (p.Gly345Val) c.590G>T (p.Gly197Val) | dbSNP |
17 | g.7670642C>G | CA397832116 | TP53 | c.1067G>C (p.Gly356Ala) c.671G>C (p.Gly224Ala) c.788G>C (p.Gly263Ala) c.1046G>C (p.Gly349Ala) c.993+2893G>C (n.993+2893G>C) c.782+3539G>C (n.782+3539G>C) c.*174G>C (n.*174G>C) c.*86G>C (n.*86G>C) c.54-952G>C c.950G>C (p.Gly317Ala) c.1034G>C (p.Gly345Ala) c.590G>C (p.Gly197Ala) | ClinVar |
17 | g.7670642C>T | CA397832120 | TP53 | c.1067G>A (p.Gly356Glu) c.671G>A (p.Gly224Glu) c.788G>A (p.Gly263Glu) c.1046G>A (p.Gly349Glu) c.993+2893G>A (n.993+2893G>A) c.782+3539G>A (n.782+3539G>A) c.*174G>A (n.*174G>A) c.*86G>A (n.*86G>A) c.54-952G>A c.950G>A (p.Gly317Glu) c.1034G>A (p.Gly345Glu) c.590G>A (p.Gly197Glu) | dbSNP gnomAD v4 |
17 | g.7670643C>A | CA397832130 | TP53 | c.1066G>T (p.Gly356Trp) c.670G>T (p.Gly224Trp) c.787G>T (p.Gly263Trp) c.1045G>T (p.Gly349Trp) c.993+2892G>T (n.993+2892G>T) c.782+3538G>T (n.782+3538G>T) c.*173G>T (n.*173G>T) c.*85G>T (n.*85G>T) c.54-953G>T c.949G>T (p.Gly317Trp) c.1033G>T (p.Gly345Trp) c.589G>T (p.Gly197Trp) | ClinVar COSMIC |
17 | g.7670643C= | CA2245942536 | TP53 | c.1066G= (p.Gly356=) c.670G= (p.Gly224=) c.787G= (p.Gly263=) c.1045G= (p.Gly349=) c.993+2892G= (n.993+2892G=) c.782+3538G= (n.782+3538G=) c.*173G= (n.*173G=) c.*85G= (n.*85G=) c.54-953G= c.949G= (p.Gly317=) c.1033G= (p.Gly345=) c.589G= (p.Gly197=) | |
17 | g.7670643C>G | CA000803 | TP53 | c.1066G>C (p.Gly356Arg) c.670G>C (p.Gly224Arg) c.787G>C (p.Gly263Arg) c.1045G>C (p.Gly349Arg) c.993+2892G>C (n.993+2892G>C) c.782+3538G>C (n.782+3538G>C) c.*173G>C (n.*173G>C) c.*85G>C (n.*85G>C) c.54-953G>C c.949G>C (p.Gly317Arg) c.1033G>C (p.Gly345Arg) c.589G>C (p.Gly197Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670643C>T | CA287485729 | TP53 | c.1066G>A (p.Gly356Arg) c.670G>A (p.Gly224Arg) c.787G>A (p.Gly263Arg) c.1045G>A (p.Gly349Arg) c.993+2892G>A (n.993+2892G>A) c.782+3538G>A (n.782+3538G>A) c.*173G>A (n.*173G>A) c.*85G>A (n.*85G>A) c.54-953G>A c.949G>A (p.Gly317Arg) c.1033G>A (p.Gly345Arg) c.589G>A (p.Gly197Arg) | ClinVar dbSNP |
17 | g.7670644A= | CA2245942548 | TP53 | c.1065T= (p.Ala355=) c.669T= (p.Ala223=) c.786T= (p.Ala262=) c.1044T= (p.Ala348=) c.993+2891T= (n.993+2891T=) c.782+3537T= (n.782+3537T=) c.*172T= (n.*172T=) c.*84T= (n.*84T=) c.54-954T= c.948T= (p.Ala316=) c.1032T= (p.Ala344=) c.588T= (p.Ala196=) | |
17 | g.7670644A>C | CA497712525 | TP53 | c.1065T>G (p.Ala355=) c.669T>G (p.Ala223=) c.786T>G (p.Ala262=) c.1044T>G (p.Ala348=) c.993+2891T>G (n.993+2891T>G) c.782+3537T>G (n.782+3537T>G) c.*172T>G (n.*172T>G) c.*84T>G (n.*84T>G) c.54-954T>G c.948T>G (p.Ala316=) c.1032T>G (p.Ala344=) c.588T>G (p.Ala196=) | |
17 | g.7670644A>G | CA16607842 | TP53 | c.1065T>C (p.Ala355=) c.669T>C (p.Ala223=) c.786T>C (p.Ala262=) c.1044T>C (p.Ala348=) c.993+2891T>C (n.993+2891T>C) c.782+3537T>C (n.782+3537T>C) c.*172T>C (n.*172T>C) c.*84T>C (n.*84T>C) c.54-954T>C c.948T>C (p.Ala316=) c.1032T>C (p.Ala344=) c.588T>C (p.Ala196=) | ClinVar dbSNP |
17 | g.7670644A>T | CA497712526 | TP53 | c.1065T>A (p.Ala355=) c.669T>A (p.Ala223=) c.786T>A (p.Ala262=) c.1044T>A (p.Ala348=) c.993+2891T>A (n.993+2891T>A) c.782+3537T>A (n.782+3537T>A) c.*172T>A (n.*172T>A) c.*84T>A (n.*84T>A) c.54-954T>A c.948T>A (p.Ala316=) c.1032T>A (p.Ala344=) c.588T>A (p.Ala196=) | dbSNP |
17 | g.7670645G>A | CA397832139 | TP53 | c.1064C>T (p.Ala355Val) c.668C>T (p.Ala223Val) c.785C>T (p.Ala262Val) c.1043C>T (p.Ala348Val) c.993+2890C>T (n.993+2890C>T) c.782+3536C>T (n.782+3536C>T) c.*171C>T (n.*171C>T) c.*83C>T (n.*83C>T) c.54-955C>T c.947C>T (p.Ala316Val) c.1031C>T (p.Ala344Val) c.587C>T (p.Ala196Val) | ClinVar dbSNP gnomAD v4 |
17 | g.7670645G>C | CA397832140 | TP53 | c.1064C>G (p.Ala355Gly) c.668C>G (p.Ala223Gly) c.785C>G (p.Ala262Gly) c.1043C>G (p.Ala348Gly) c.993+2890C>G (n.993+2890C>G) c.782+3536C>G (n.782+3536C>G) c.*171C>G (n.*171C>G) c.*83C>G (n.*83C>G) c.54-955C>G c.947C>G (p.Ala316Gly) c.1031C>G (p.Ala344Gly) c.587C>G (p.Ala196Gly) | ClinVar dbSNP |
17 | g.7670645G= | CA2245942564 | TP53 | c.1064C= (p.Ala355=) c.668C= (p.Ala223=) c.785C= (p.Ala262=) c.1043C= (p.Ala348=) c.993+2890C= (n.993+2890C=) c.782+3536C= (n.782+3536C=) c.*171C= (n.*171C=) c.*83C= (n.*83C=) c.54-955C= c.947C= (p.Ala316=) c.1031C= (p.Ala344=) c.587C= (p.Ala196=) | |
17 | g.7670645G>T | CA397832142 | TP53 | c.1064C>A (p.Ala355Asp) c.668C>A (p.Ala223Asp) c.785C>A (p.Ala262Asp) c.1043C>A (p.Ala348Asp) c.993+2890C>A (n.993+2890C>A) c.782+3536C>A (n.782+3536C>A) c.*171C>A (n.*171C>A) c.*83C>A (n.*83C>A) c.54-955C>A c.947C>A (p.Ala316Asp) c.1031C>A (p.Ala344Asp) c.587C>A (p.Ala196Asp) | ClinVar |
17 | g.7670645_7670666delinsTGC | CA2695200372 | TP53 | c.1043_1064delinsGCA (p.Leu348CysfsTer16) c.647_668delinsGCA (p.Leu216CysfsTer16) c.764_785delinsGCA (p.Leu255CysfsTer16) c.1022_1043delinsGCA (p.Leu341CysfsTer16) c.993+2869_993+2890delinsGCA (n.993+2869_993+2890delinsGCA) c.782+3515_782+3536delinsGCA (n.782+3515_782+3536delinsGCA) c.*150_*171delinsGCA (n.*150_*171delinsGCA) c.*62_*83delinsGCA (n.*62_*83delinsGCA) c.54-976_54-955delinsGCA c.926_947delinsGCA (p.Leu309CysfsTer16) c.1010_1031delinsGCA (p.Leu337CysfsTer16) c.566_587delinsGCA (p.Leu189CysfsTer16) c.926_947delinsGCA (p.Leu309CysfsTer?) | ClinVar |
17 | g.7670646C>A | CA397832149 | TP53 | c.1063G>T (p.Ala355Ser) c.667G>T (p.Ala223Ser) c.784G>T (p.Ala262Ser) c.1042G>T (p.Ala348Ser) c.993+2889G>T (n.993+2889G>T) c.782+3535G>T (n.782+3535G>T) c.*170G>T (n.*170G>T) c.*82G>T (n.*82G>T) c.54-956G>T c.946G>T (p.Ala316Ser) c.1030G>T (p.Ala344Ser) c.586G>T (p.Ala196Ser) | ClinVar dbSNP |
17 | g.7670646C= | CA2245942577 | TP53 | c.1063G= (p.Ala355=) c.667G= (p.Ala223=) c.784G= (p.Ala262=) c.1042G= (p.Ala348=) c.993+2889G= (n.993+2889G=) c.782+3535G= (n.782+3535G=) c.*170G= (n.*170G=) c.*82G= (n.*82G=) c.54-956G= c.946G= (p.Ala316=) c.1030G= (p.Ala344=) c.586G= (p.Ala196=) | |
17 | g.7670646C>G | CA397832147 | TP53 | c.1063G>C (p.Ala355Pro) c.667G>C (p.Ala223Pro) c.784G>C (p.Ala262Pro) c.1042G>C (p.Ala348Pro) c.993+2889G>C (n.993+2889G>C) c.782+3535G>C (n.782+3535G>C) c.*170G>C (n.*170G>C) c.*82G>C (n.*82G>C) c.54-956G>C c.946G>C (p.Ala316Pro) c.1030G>C (p.Ala344Pro) c.586G>C (p.Ala196Pro) | dbSNP |
17 | g.7670646C>T | CA397832145 | TP53 | c.1063G>A (p.Ala355Thr) c.667G>A (p.Ala223Thr) c.784G>A (p.Ala262Thr) c.1042G>A (p.Ala348Thr) c.993+2889G>A (n.993+2889G>A) c.782+3535G>A (n.782+3535G>A) c.*170G>A (n.*170G>A) c.*82G>A (n.*82G>A) c.54-956G>A c.946G>A (p.Ala316Thr) c.1030G>A (p.Ala344Thr) c.586G>A (p.Ala196Thr) | ClinVar dbSNP gnomAD v2 |
17 | g.7670647C>A | CA397832171 | TP53 | c.1062G>T (p.Gln354His) c.666G>T (p.Gln222His) c.783G>T (p.Gln261His) c.1041G>T (p.Gln347His) c.993+2888G>T (n.993+2888G>T) c.782+3534G>T (n.782+3534G>T) c.*169G>T (n.*169G>T) c.*81G>T (n.*81G>T) c.54-957G>T c.945G>T (p.Gln315His) c.1029G>T (p.Gln343His) c.585G>T (p.Gln195His) | dbSNP COSMIC |
17 | g.7670647C= | CA2245942581 | TP53 | c.1062G= (p.Gln354=) c.666G= (p.Gln222=) c.783G= (p.Gln261=) c.1041G= (p.Gln347=) c.993+2888G= (n.993+2888G=) c.782+3534G= (n.782+3534G=) c.*169G= (n.*169G=) c.*81G= (n.*81G=) c.54-957G= c.945G= (p.Gln315=) c.1029G= (p.Gln343=) c.585G= (p.Gln195=) | |
17 | g.7670647C>G | CA397832162 | TP53 | c.1062G>C (p.Gln354His) c.666G>C (p.Gln222His) c.783G>C (p.Gln261His) c.1041G>C (p.Gln347His) c.993+2888G>C (n.993+2888G>C) c.782+3534G>C (n.782+3534G>C) c.*169G>C (n.*169G>C) c.*81G>C (n.*81G>C) c.54-957G>C c.945G>C (p.Gln315His) c.1029G>C (p.Gln343His) c.585G>C (p.Gln195His) | dbSNP |
17 | g.7670647C>T | CA497712531 | TP53 | c.1062G>A (p.Gln354=) c.666G>A (p.Gln222=) c.783G>A (p.Gln261=) c.1041G>A (p.Gln347=) c.993+2888G>A (n.993+2888G>A) c.782+3534G>A (n.782+3534G>A) c.*169G>A (n.*169G>A) c.*81G>A (n.*81G>A) c.54-957G>A c.945G>A (p.Gln315=) c.1029G>A (p.Gln343=) c.585G>A (p.Gln195=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7670648T>A | CA397832176 | TP53 | c.1061A>T (p.Gln354Leu) c.665A>T (p.Gln222Leu) c.782A>T (p.Gln261Leu) c.1040A>T (p.Gln347Leu) c.993+2887A>T (n.993+2887A>T) c.782+3533A>T (n.782+3533A>T) c.*168A>T (n.*168A>T) c.*80A>T (n.*80A>T) c.54-958A>T c.944A>T (p.Gln315Leu) c.1028A>T (p.Gln343Leu) c.584A>T (p.Gln195Leu) | ClinVar |
17 | g.7670648T>C | CA000810 | TP53 | c.1061A>G (p.Gln354Arg) c.665A>G (p.Gln222Arg) c.782A>G (p.Gln261Arg) c.1040A>G (p.Gln347Arg) c.993+2887A>G (n.993+2887A>G) c.782+3533A>G (n.782+3533A>G) c.*168A>G (n.*168A>G) c.*80A>G (n.*80A>G) c.54-958A>G c.944A>G (p.Gln315Arg) c.1028A>G (p.Gln343Arg) c.584A>G (p.Gln195Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.7670648T>G | CA397832177 | TP53 | c.1061A>C (p.Gln354Pro) c.665A>C (p.Gln222Pro) c.782A>C (p.Gln261Pro) c.1040A>C (p.Gln347Pro) c.993+2887A>C (n.993+2887A>C) c.782+3533A>C (n.782+3533A>C) c.*168A>C (n.*168A>C) c.*80A>C (n.*80A>C) c.54-958A>C c.944A>C (p.Gln315Pro) c.1028A>C (p.Gln343Pro) c.584A>C (p.Gln195Pro) | gnomAD v4 |
17 | g.7670648T= | CA2245942587 | TP53 | c.1061A= (p.Gln354=) c.665A= (p.Gln222=) c.782A= (p.Gln261=) c.1040A= (p.Gln347=) c.993+2887A= (n.993+2887A=) c.782+3533A= (n.782+3533A=) c.*168A= (n.*168A=) c.*80A= (n.*80A=) c.54-958A= c.944A= (p.Gln315=) c.1028A= (p.Gln343=) c.584A= (p.Gln195=) | |
17 | g.7670648_7670666del | CA645587295 | TP53 | c.1043_1061del (p.Leu348TrpfsTer16) c.647_665del (p.Leu216TrpfsTer16) c.764_782del (p.Leu255TrpfsTer16) c.1022_1040del (p.Leu341TrpfsTer16) c.993+2869_993+2887del (n.993+2869_993+2887del) c.782+3515_782+3533del (n.782+3515_782+3533del) c.*150_*168del (n.*150_*168del) c.*62_*80del (n.*62_*80del) c.54-976_54-958del c.926_944del (p.Leu309TrpfsTer16) c.1010_1028del (p.Leu337TrpfsTer16) c.566_584del (p.Leu189TrpfsTer16) c.926_944del (p.Leu309TrpfsTer?) | COSMIC |
17 | g.7670649G>A | CA397832178 | TP53 | c.1060C>T (p.Gln354Ter) c.664C>T (p.Gln222Ter) c.781C>T (p.Gln261Ter) c.1039C>T (p.Gln347Ter) c.993+2886C>T (n.993+2886C>T) c.782+3532C>T (n.782+3532C>T) c.*167C>T (n.*167C>T) c.*79C>T (n.*79C>T) c.54-959C>T c.943C>T (p.Gln315Ter) c.1027C>T (p.Gln343Ter) c.583C>T (p.Gln195Ter) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670649G>C | CA397832179 | TP53 | c.1060C>G (p.Gln354Glu) c.664C>G (p.Gln222Glu) c.781C>G (p.Gln261Glu) c.1039C>G (p.Gln347Glu) c.993+2886C>G (n.993+2886C>G) c.782+3532C>G (n.782+3532C>G) c.*167C>G (n.*167C>G) c.*79C>G (n.*79C>G) c.54-959C>G c.943C>G (p.Gln315Glu) c.1027C>G (p.Gln343Glu) c.583C>G (p.Gln195Glu) | ClinVar dbSNP |
17 | g.7670649G= | CA2245942608 | TP53 | c.1060C= (p.Gln354=) c.664C= (p.Gln222=) c.781C= (p.Gln261=) c.1039C= (p.Gln347=) c.993+2886C= (n.993+2886C=) c.782+3532C= (n.782+3532C=) c.*167C= (n.*167C=) c.*79C= (n.*79C=) c.54-959C= c.943C= (p.Gln315=) c.1027C= (p.Gln343=) c.583C= (p.Gln195=) | |
17 | g.7670649G>T | CA000816 | TP53 | c.1060C>A (p.Gln354Lys) c.664C>A (p.Gln222Lys) c.781C>A (p.Gln261Lys) c.1039C>A (p.Gln347Lys) c.993+2886C>A (n.993+2886C>A) c.782+3532C>A (n.782+3532C>A) c.*167C>A (n.*167C>A) c.*79C>A (n.*79C>A) c.54-959C>A c.943C>A (p.Gln315Lys) c.1027C>A (p.Gln343Lys) c.583C>A (p.Gln195Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.7670650G>A | CA497712535 | TP53 | c.1059C>T (p.Ala353=) c.663C>T (p.Ala221=) c.780C>T (p.Ala260=) c.1038C>T (p.Ala346=) c.993+2885C>T (n.993+2885C>T) c.782+3531C>T (n.782+3531C>T) c.*166C>T (n.*166C>T) c.*78C>T (n.*78C>T) c.54-960C>T c.942C>T (p.Ala314=) c.1026C>T (p.Ala342=) c.582C>T (p.Ala194=) | |
17 | g.7670650G>C | CA497712536 | TP53 | c.1059C>G (p.Ala353=) c.663C>G (p.Ala221=) c.780C>G (p.Ala260=) c.1038C>G (p.Ala346=) c.993+2885C>G (n.993+2885C>G) c.782+3531C>G (n.782+3531C>G) c.*166C>G (n.*166C>G) c.*78C>G (n.*78C>G) c.54-960C>G c.942C>G (p.Ala314=) c.1026C>G (p.Ala342=) c.582C>G (p.Ala194=) | dbSNP |
17 | g.7670650G>T | CA497712538 | TP53 | c.1059C>A (p.Ala353=) c.663C>A (p.Ala221=) c.780C>A (p.Ala260=) c.1038C>A (p.Ala346=) c.993+2885C>A (n.993+2885C>A) c.782+3531C>A (n.782+3531C>A) c.*166C>A (n.*166C>A) c.*78C>A (n.*78C>A) c.54-960C>A c.942C>A (p.Ala314=) c.1026C>A (p.Ala342=) c.582C>A (p.Ala194=) | ClinVar dbSNP |
17 | g.7670651_7670661del | CA645587296 | TP53 | c.1049_1059del (p.Leu350ProfsTer28) c.653_663del (p.Leu218ProfsTer28) c.770_780del (p.Leu257ProfsTer28) c.1028_1038del (p.Leu343ProfsTer28) c.993+2875_993+2885del (n.993+2875_993+2885del) c.782+3521_782+3531del (n.782+3521_782+3531del) c.*156_*166del (n.*156_*166del) c.*68_*78del (n.*68_*78del) c.54-970_54-960del c.932_942del (p.Leu311ProfsTer28) c.1016_1026del (p.Leu339ProfsTer28) c.572_582del (p.Leu191ProfsTer28) c.932_942del (p.Leu311ProfsTer?) | COSMIC |
17 | g.7670651G>A | CA397832186 | TP53 | c.1058C>T (p.Ala353Val) c.662C>T (p.Ala221Val) c.779C>T (p.Ala260Val) c.1037C>T (p.Ala346Val) c.993+2884C>T (n.993+2884C>T) c.782+3530C>T (n.782+3530C>T) c.*165C>T (n.*165C>T) c.*77C>T (n.*77C>T) c.54-961C>T c.941C>T (p.Ala314Val) c.1025C>T (p.Ala342Val) c.581C>T (p.Ala194Val) | dbSNP COSMIC COSMIC |
17 | g.7670651G>C | CA397832205 | TP53 | c.1058C>G (p.Ala353Gly) c.662C>G (p.Ala221Gly) c.779C>G (p.Ala260Gly) c.1037C>G (p.Ala346Gly) c.993+2884C>G (n.993+2884C>G) c.782+3530C>G (n.782+3530C>G) c.*165C>G (n.*165C>G) c.*77C>G (n.*77C>G) c.54-961C>G c.941C>G (p.Ala314Gly) c.1025C>G (p.Ala342Gly) c.581C>G (p.Ala194Gly) | dbSNP |
17 | g.7670651G>T | CA397832209 | TP53 | c.1058C>A (p.Ala353Asp) c.662C>A (p.Ala221Asp) c.779C>A (p.Ala260Asp) c.1037C>A (p.Ala346Asp) c.993+2884C>A (n.993+2884C>A) c.782+3530C>A (n.782+3530C>A) c.*165C>A (n.*165C>A) c.*77C>A (n.*77C>A) c.54-961C>A c.941C>A (p.Ala314Asp) c.1025C>A (p.Ala342Asp) c.581C>A (p.Ala194Asp) | dbSNP |
17 | g.7670652C>A | CA397832219 | TP53 | c.1057G>T (p.Ala353Ser) c.661G>T (p.Ala221Ser) c.778G>T (p.Ala260Ser) c.1036G>T (p.Ala346Ser) c.993+2883G>T (n.993+2883G>T) c.782+3529G>T (n.782+3529G>T) c.*164G>T (n.*164G>T) c.*76G>T (n.*76G>T) c.54-962G>T c.940G>T (p.Ala314Ser) c.1024G>T (p.Ala342Ser) c.580G>T (p.Ala194Ser) | ClinVar dbSNP |
17 | g.7670652C>G | CA397832220 | TP53 | c.1057G>C (p.Ala353Pro) c.661G>C (p.Ala221Pro) c.778G>C (p.Ala260Pro) c.1036G>C (p.Ala346Pro) c.993+2883G>C (n.993+2883G>C) c.782+3529G>C (n.782+3529G>C) c.*164G>C (n.*164G>C) c.*76G>C (n.*76G>C) c.54-962G>C c.940G>C (p.Ala314Pro) c.1024G>C (p.Ala342Pro) c.580G>C (p.Ala194Pro) | dbSNP |
17 | g.7670652C>T | CA397832221 | TP53 | c.1057G>A (p.Ala353Thr) c.661G>A (p.Ala221Thr) c.778G>A (p.Ala260Thr) c.1036G>A (p.Ala346Thr) c.993+2883G>A (n.993+2883G>A) c.782+3529G>A (n.782+3529G>A) c.*164G>A (n.*164G>A) c.*76G>A (n.*76G>A) c.54-962G>A c.940G>A (p.Ala314Thr) c.1024G>A (p.Ala342Thr) c.580G>A (p.Ala194Thr) | dbSNP COSMIC |
17 | g.7670653_7670671del | CA645587297 | TP53 | c.1039_1057del (p.Ala347ProfsTer17) c.643_661del (p.Ala215ProfsTer17) c.760_778del (p.Ala254ProfsTer17) c.1018_1036del (p.Ala340ProfsTer17) c.993+2865_993+2883del (n.993+2865_993+2883del) c.782+3511_782+3529del (n.782+3511_782+3529del) c.*146_*164del (n.*146_*164del) c.*58_*76del (n.*58_*76del) c.54-980_54-962del c.922_940del (p.Ala308ProfsTer17) c.1006_1024del (p.Ala336ProfsTer17) c.562_580del (p.Ala188ProfsTer17) c.922_940del (p.Ala308ProfsTer?) | COSMIC |
17 | g.7670653A>C | CA397832227 | TP53 | c.1056T>G (p.Asp352Glu) c.660T>G (p.Asp220Glu) c.777T>G (p.Asp259Glu) c.1035T>G (p.Asp345Glu) c.993+2882T>G (n.993+2882T>G) c.782+3528T>G (n.782+3528T>G) c.*163T>G (n.*163T>G) c.*75T>G (n.*75T>G) c.54-963T>G c.939T>G (p.Asp313Glu) c.1023T>G (p.Asp341Glu) c.579T>G (p.Asp193Glu) | ClinVar |
17 | g.7670653A>G | CA497712540 | TP53 | c.1056T>C (p.Asp352=) c.660T>C (p.Asp220=) c.777T>C (p.Asp259=) c.1035T>C (p.Asp345=) c.993+2882T>C (n.993+2882T>C) c.782+3528T>C (n.782+3528T>C) c.*163T>C (n.*163T>C) c.*75T>C (n.*75T>C) c.54-963T>C c.939T>C (p.Asp313=) c.1023T>C (p.Asp341=) c.579T>C (p.Asp193=) | |
17 | g.7670653A>T | CA397832224 | TP53 | c.1056T>A (p.Asp352Glu) c.660T>A (p.Asp220Glu) c.777T>A (p.Asp259Glu) c.1035T>A (p.Asp345Glu) c.993+2882T>A (n.993+2882T>A) c.782+3528T>A (n.782+3528T>A) c.*163T>A (n.*163T>A) c.*75T>A (n.*75T>A) c.54-963T>A c.939T>A (p.Asp313Glu) c.1023T>A (p.Asp341Glu) c.579T>A (p.Asp193Glu) | dbSNP |
17 | g.7670653_7670654delinsTG | CA10575448 | TP53 | c.1055_1056delinsCA (p.Asp352Ala) c.659_660delinsCA (p.Asp220Ala) c.776_777delinsCA (p.Asp259Ala) c.1034_1035delinsCA (p.Asp345Ala) c.993+2881_993+2882delinsCA (n.993+2881_993+2882delinsCA) c.782+3527_782+3528delinsCA (n.782+3527_782+3528delinsCA) c.*162_*163delinsCA (n.*162_*163delinsCA) c.*74_*75delinsCA (n.*74_*75delinsCA) c.54-964_54-963delinsCA c.938_939delinsCA (p.Asp313Ala) c.1022_1023delinsCA (p.Asp341Ala) c.578_579delinsCA (p.Asp193Ala) | |
17 | g.7670654T>A | CA397832231 | TP53 | c.1055A>T (p.Asp352Val) c.659A>T (p.Asp220Val) c.776A>T (p.Asp259Val) c.1034A>T (p.Asp345Val) c.993+2881A>T (n.993+2881A>T) c.782+3527A>T (n.782+3527A>T) c.*162A>T (n.*162A>T) c.*74A>T (n.*74A>T) c.54-964A>T c.938A>T (p.Asp313Val) c.1022A>T (p.Asp341Val) c.578A>T (p.Asp193Val) | |
17 | g.7670654T>C | CA397832234 | TP53 | c.1055A>G (p.Asp352Gly) c.659A>G (p.Asp220Gly) c.776A>G (p.Asp259Gly) c.1034A>G (p.Asp345Gly) c.993+2881A>G (n.993+2881A>G) c.782+3527A>G (n.782+3527A>G) c.*162A>G (n.*162A>G) c.*74A>G (n.*74A>G) c.54-964A>G c.938A>G (p.Asp313Gly) c.1022A>G (p.Asp341Gly) c.578A>G (p.Asp193Gly) | |
17 | g.7670654T>G | CA397832238 | TP53 | c.1055A>C (p.Asp352Ala) c.659A>C (p.Asp220Ala) c.776A>C (p.Asp259Ala) c.1034A>C (p.Asp345Ala) c.993+2881A>C (n.993+2881A>C) c.782+3527A>C (n.782+3527A>C) c.*162A>C (n.*162A>C) c.*74A>C (n.*74A>C) c.54-964A>C c.938A>C (p.Asp313Ala) c.1022A>C (p.Asp341Ala) c.578A>C (p.Asp193Ala) | |
17 | g.7670654_7670663del | CA2573154613 | TP53 | c.1046_1055del (p.Glu349ValfsTer18) c.650_659del (p.Glu217ValfsTer18) c.767_776del (p.Glu256ValfsTer18) c.1025_1034del (p.Glu342ValfsTer18) c.993+2872_993+2881del (n.993+2872_993+2881del) c.782+3518_782+3527del (n.782+3518_782+3527del) c.*153_*162del (n.*153_*162del) c.*65_*74del (n.*65_*74del) c.54-973_54-964del c.929_938del (p.Glu310ValfsTer18) c.1013_1022del (p.Glu338ValfsTer18) c.569_578del (p.Glu190ValfsTer18) c.929_938del (p.Glu310ValfsTer?) | ClinVar dbSNP |
17 | g.7670655C>A | CA397832246 | TP53 | c.1054G>T (p.Asp352Tyr) c.658G>T (p.Asp220Tyr) c.775G>T (p.Asp259Tyr) c.1033G>T (p.Asp345Tyr) c.993+2880G>T (n.993+2880G>T) c.782+3526G>T (n.782+3526G>T) c.*161G>T (n.*161G>T) c.*73G>T (n.*73G>T) c.54-965G>T c.937G>T (p.Asp313Tyr) c.1021G>T (p.Asp341Tyr) c.577G>T (p.Asp193Tyr) | ClinVar dbSNP gnomAD v4 |
17 | g.7670655C= | CA2245942622 | TP53 | c.1054G= (p.Asp352=) c.658G= (p.Asp220=) c.775G= (p.Asp259=) c.1033G= (p.Asp345=) c.993+2880G= (n.993+2880G=) c.782+3526G= (n.782+3526G=) c.*161G= (n.*161G=) c.*73G= (n.*73G=) c.54-965G= c.937G= (p.Asp313=) c.1021G= (p.Asp341=) c.577G= (p.Asp193=) | |
17 | g.7670655C>G | CA397832249 | TP53 | c.1054G>C (p.Asp352His) c.658G>C (p.Asp220His) c.775G>C (p.Asp259His) c.1033G>C (p.Asp345His) c.993+2880G>C (n.993+2880G>C) c.782+3526G>C (n.782+3526G>C) c.*161G>C (n.*161G>C) c.*73G>C (n.*73G>C) c.54-965G>C c.937G>C (p.Asp313His) c.1021G>C (p.Asp341His) c.577G>C (p.Asp193His) | ClinVar dbSNP |
17 | g.7670655C>T | CA397832256 | TP53 | c.1054G>A (p.Asp352Asn) c.658G>A (p.Asp220Asn) c.775G>A (p.Asp259Asn) c.1033G>A (p.Asp345Asn) c.993+2880G>A (n.993+2880G>A) c.782+3526G>A (n.782+3526G>A) c.*161G>A (n.*161G>A) c.*73G>A (n.*73G>A) c.54-965G>A c.937G>A (p.Asp313Asn) c.1021G>A (p.Asp341Asn) c.577G>A (p.Asp193Asn) | dbSNP |
17 | g.7670656del | CA2573154614 | TP53 | c.1054del (p.Asp352MetfsTer18) c.658del (p.Asp220MetfsTer18) c.775del (p.Asp259MetfsTer18) c.1033del (p.Asp345MetfsTer18) c.993+2880del (n.993+2880del) c.782+3526del (n.782+3526del) c.*161del (n.*161del) c.*73del (n.*73del) c.54-965del c.937del (p.Asp313MetfsTer18) c.1021del (p.Asp341MetfsTer18) c.577del (p.Asp193MetfsTer18) c.937del (p.Asp313MetfsTer?) | ClinVar dbSNP |
17 | g.7670655_7670667del | CA2733133570 | TP53 | c.1042_1054del (p.Leu348MetfsTer18) c.646_658del (p.Leu216MetfsTer18) c.763_775del (p.Leu255MetfsTer18) c.1021_1033del (p.Leu341MetfsTer18) c.993+2868_993+2880del (n.993+2868_993+2880del) c.782+3514_782+3526del (n.782+3514_782+3526del) c.*149_*161del (n.*149_*161del) c.*61_*73del (n.*61_*73del) c.54-977_54-965del c.925_937del (p.Leu309MetfsTer18) c.1009_1021del (p.Leu337MetfsTer18) c.565_577del (p.Leu189MetfsTer18) c.925_937del (p.Leu309MetfsTer?) | dbSNP |
17 | g.7670658_7670672del | CA2733133408 | TP53 | c.1040_1054del (p.Ala347_Lys351del) c.644_658del (p.Ala215_Lys219del) c.761_775del (p.Ala254_Lys258del) c.1019_1033del (p.Ala340_Lys344del) c.993+2866_993+2880del (n.993+2866_993+2880del) c.782+3512_782+3526del (n.782+3512_782+3526del) c.*147_*161del (n.*147_*161del) c.*59_*73del (n.*59_*73del) c.54-979_54-965del c.923_937del (p.Ala308_Lys312del) c.1007_1021del (p.Ala336_Lys340del) c.563_577del (p.Ala188_Lys192del) | dbSNP |
17 | g.7670656C>A | CA397832268 | TP53 | c.1053G>T (p.Lys351Asn) c.657G>T (p.Lys219Asn) c.774G>T (p.Lys258Asn) c.1032G>T (p.Lys344Asn) c.993+2879G>T (n.993+2879G>T) c.782+3525G>T (n.782+3525G>T) c.*160G>T (n.*160G>T) c.*72G>T (n.*72G>T) c.54-966G>T c.936G>T (p.Lys312Asn) c.1020G>T (p.Lys340Asn) c.576G>T (p.Lys192Asn) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670656C= | CA2245942636 | TP53 | c.1053G= (p.Lys351=) c.657G= (p.Lys219=) c.774G= (p.Lys258=) c.1032G= (p.Lys344=) c.993+2879G= (n.993+2879G=) c.782+3525G= (n.782+3525G=) c.*160G= (n.*160G=) c.*72G= (n.*72G=) c.54-966G= c.936G= (p.Lys312=) c.1020G= (p.Lys340=) c.576G= (p.Lys192=) | |
17 | g.7670656C>G | CA397832273 | TP53 | c.1053G>C (p.Lys351Asn) c.657G>C (p.Lys219Asn) c.774G>C (p.Lys258Asn) c.1032G>C (p.Lys344Asn) c.993+2879G>C (n.993+2879G>C) c.782+3525G>C (n.782+3525G>C) c.*160G>C (n.*160G>C) c.*72G>C (n.*72G>C) c.54-966G>C c.936G>C (p.Lys312Asn) c.1020G>C (p.Lys340Asn) c.576G>C (p.Lys192Asn) | |
17 | g.7670656C>T | CA497712543 | TP53 | c.1053G>A (p.Lys351=) c.657G>A (p.Lys219=) c.774G>A (p.Lys258=) c.1032G>A (p.Lys344=) c.993+2879G>A (n.993+2879G>A) c.782+3525G>A (n.782+3525G>A) c.*160G>A (n.*160G>A) c.*72G>A (n.*72G>A) c.54-966G>A c.936G>A (p.Lys312=) c.1020G>A (p.Lys340=) c.576G>A (p.Lys192=) | dbSNP |
17 | g.7670657T>A | CA397832276 | TP53 | c.1052A>T (p.Lys351Met) c.656A>T (p.Lys219Met) c.773A>T (p.Lys258Met) c.1031A>T (p.Lys344Met) c.993+2878A>T (n.993+2878A>T) c.782+3524A>T (n.782+3524A>T) c.*159A>T (n.*159A>T) c.*71A>T (n.*71A>T) c.54-967A>T c.935A>T (p.Lys312Met) c.1019A>T (p.Lys340Met) c.575A>T (p.Lys192Met) | dbSNP |
17 | g.7670657T>C | CA397832291 | TP53 | c.1052A>G (p.Lys351Arg) c.656A>G (p.Lys219Arg) c.773A>G (p.Lys258Arg) c.1031A>G (p.Lys344Arg) c.993+2878A>G (n.993+2878A>G) c.782+3524A>G (n.782+3524A>G) c.*159A>G (n.*159A>G) c.*71A>G (n.*71A>G) c.54-967A>G c.935A>G (p.Lys312Arg) c.1019A>G (p.Lys340Arg) c.575A>G (p.Lys192Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.7670657T>G | CA397832305 | TP53 | c.1052A>C (p.Lys351Thr) c.656A>C (p.Lys219Thr) c.773A>C (p.Lys258Thr) c.1031A>C (p.Lys344Thr) c.993+2878A>C (n.993+2878A>C) c.782+3524A>C (n.782+3524A>C) c.*159A>C (n.*159A>C) c.*71A>C (n.*71A>C) c.54-967A>C c.935A>C (p.Lys312Thr) c.1019A>C (p.Lys340Thr) c.575A>C (p.Lys192Thr) | |
17 | g.7670657T= | CA2245942648 | TP53 | c.1052A= (p.Lys351=) c.656A= (p.Lys219=) c.773A= (p.Lys258=) c.1031A= (p.Lys344=) c.993+2878A= (n.993+2878A=) c.782+3524A= (n.782+3524A=) c.*159A= (n.*159A=) c.*71A= (n.*71A=) c.54-967A= c.935A= (p.Lys312=) c.1019A= (p.Lys340=) c.575A= (p.Lys192=) | |
17 | g.7670658del | CA2499224950 | TP53 | c.1052del (p.Lys351ArgfsTer19) c.656del (p.Lys219ArgfsTer19) c.773del (p.Lys258ArgfsTer19) c.1031del (p.Lys344ArgfsTer19) c.993+2878del (n.993+2878del) c.782+3524del (n.782+3524del) c.*159del (n.*159del) c.*71del (n.*71del) c.54-967del c.935del (p.Lys312ArgfsTer19) c.1019del (p.Lys340ArgfsTer19) c.575del (p.Lys192ArgfsTer19) c.935del (p.Lys312ArgfsTer?) | ClinVar dbSNP |
17 | g.7670657_7670665delinsTTGAGTTCC | CA2245942644 | TP53 | c.1044_1052delinsGGAACTCAA (p.Leu348=) c.648_656delinsGGAACTCAA (p.Leu216=) c.765_773delinsGGAACTCAA (p.Leu255=) c.1023_1031delinsGGAACTCAA (p.Leu341=) c.993+2870_993+2878delinsGGAACTCAA (n.993+2870_993+2878delinsGGAACTCAA) c.782+3516_782+3524delinsGGAACTCAA (n.782+3516_782+3524delinsGGAACTCAA) c.*151_*159delinsGGAACTCAA (n.*151_*159delinsGGAACTCAA) c.*63_*71delinsGGAACTCAA (n.*63_*71delinsGGAACTCAA) c.54-975_54-967delinsGGAACTCAA c.927_935delinsGGAACTCAA (p.Leu309=) c.1011_1019delinsGGAACTCAA (p.Leu337=) c.567_575delinsGGAACTCAA (p.Leu189=) | |
17 | g.7670657_7670666delinsTTGAGTTCCA | CA2245942655 | TP53 | c.1043_1052delinsTGGAACTCAA (p.Leu348=) c.647_656delinsTGGAACTCAA (p.Leu216=) c.764_773delinsTGGAACTCAA (p.Leu255=) c.1022_1031delinsTGGAACTCAA (p.Leu341=) c.993+2869_993+2878delinsTGGAACTCAA (n.993+2869_993+2878delinsTGGAACTCAA) c.782+3515_782+3524delinsTGGAACTCAA (n.782+3515_782+3524delinsTGGAACTCAA) c.*150_*159delinsTGGAACTCAA (n.*150_*159delinsTGGAACTCAA) c.*62_*71delinsTGGAACTCAA (n.*62_*71delinsTGGAACTCAA) c.54-976_54-967delinsTGGAACTCAA c.926_935delinsTGGAACTCAA (p.Leu309=) c.1010_1019delinsTGGAACTCAA (p.Leu337=) c.566_575delinsTGGAACTCAA (p.Leu189=) | |
17 | g.7670658T>A | CA397832311 | TP53 | c.1051A>T (p.Lys351Ter) c.655A>T (p.Lys219Ter) c.772A>T (p.Lys258Ter) c.1030A>T (p.Lys344Ter) c.993+2877A>T (n.993+2877A>T) c.782+3523A>T (n.782+3523A>T) c.*158A>T (n.*158A>T) c.*70A>T (n.*70A>T) c.54-968A>T c.934A>T (p.Lys312Ter) c.1018A>T (p.Lys340Ter) c.574A>T (p.Lys192Ter) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670658T>C | CA000023 | TP53 | c.1051A>G (p.Lys351Glu) c.655A>G (p.Lys219Glu) c.772A>G (p.Lys258Glu) c.1030A>G (p.Lys344Glu) c.993+2877A>G (n.993+2877A>G) c.782+3523A>G (n.782+3523A>G) c.*158A>G (n.*158A>G) c.*70A>G (n.*70A>G) c.54-968A>G c.934A>G (p.Lys312Glu) c.1018A>G (p.Lys340Glu) c.574A>G (p.Lys192Glu) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670658T>G | CA397832315 | TP53 | c.1051A>C (p.Lys351Gln) c.655A>C (p.Lys219Gln) c.772A>C (p.Lys258Gln) c.1030A>C (p.Lys344Gln) c.993+2877A>C (n.993+2877A>C) c.782+3523A>C (n.782+3523A>C) c.*158A>C (n.*158A>C) c.*70A>C (n.*70A>C) c.54-968A>C c.934A>C (p.Lys312Gln) c.1018A>C (p.Lys340Gln) c.574A>C (p.Lys192Gln) | |
17 | g.7670658T= | CA2245942676 | TP53 | c.1051A= (p.Lys351=) c.655A= (p.Lys219=) c.772A= (p.Lys258=) c.1030A= (p.Lys344=) c.993+2877A= (n.993+2877A=) c.782+3523A= (n.782+3523A=) c.*158A= (n.*158A=) c.*70A= (n.*70A=) c.54-968A= c.934A= (p.Lys312=) c.1018A= (p.Lys340=) c.574A= (p.Lys192=) | |
17 | g.7670658_7670660delinsTGA | CA2245942677 | TP53 | c.1049_1051delinsTCA (p.Leu350=) c.653_655delinsTCA (p.Leu218=) c.770_772delinsTCA (p.Leu257=) c.1028_1030delinsTCA (p.Leu343=) c.993+2875_993+2877delinsTCA (n.993+2875_993+2877delinsTCA) c.782+3521_782+3523delinsTCA (n.782+3521_782+3523delinsTCA) c.*156_*158delinsTCA (n.*156_*158delinsTCA) c.*68_*70delinsTCA (n.*68_*70delinsTCA) c.54-970_54-968delinsTCA c.932_934delinsTCA (p.Leu311=) c.1016_1018delinsTCA (p.Leu339=) c.572_574delinsTCA (p.Leu191=) | |
17 | g.7670658_7670665del | CA16603358 | TP53 | c.1044_1051del (p.Glu349GlyfsTer?) c.648_655del (p.Glu217GlyfsTer?) c.765_772del (p.Glu256GlyfsTer?) c.1023_1030del (p.Glu342GlyfsTer?) c.993+2870_993+2877del (n.993+2870_993+2877del) c.782+3516_782+3523del (n.782+3516_782+3523del) c.*151_*158del (n.*151_*158del) c.*63_*70del (n.*63_*70del) c.54-975_54-968del c.927_934del (p.Glu310GlyfsTer?) c.1011_1018del (p.Glu338GlyfsTer?) c.567_574del (p.Glu190GlyfsTer?) | ClinVar dbSNP |
17 | g.7670658_7670666delinsC | CA891844038 | TP53 | c.1043_1051delinsG (p.Leu348Ter) c.647_655delinsG (p.Leu216Ter) c.764_772delinsG (p.Leu255Ter) c.1022_1030delinsG (p.Leu341Ter) c.993+2869_993+2877delinsG (n.993+2869_993+2877delinsG) c.782+3515_782+3523delinsG (n.782+3515_782+3523delinsG) c.*150_*158delinsG (n.*150_*158delinsG) c.*62_*70delinsG (n.*62_*70delinsG) c.54-976_54-968delinsG c.926_934delinsG (p.Leu309Ter) c.1010_1018delinsG (p.Leu337Ter) c.566_574delinsG (p.Leu189Ter) | ClinVar dbSNP |
17 | g.7670659del | CA497712546 | TP53 | c.1050del (p.Lys351ArgfsTer19) c.654del (p.Lys219ArgfsTer19) c.771del (p.Lys258ArgfsTer19) c.1029del (p.Lys344ArgfsTer19) c.993+2876del (n.993+2876del) c.782+3522del (n.782+3522del) c.*157del (n.*157del) c.*69del (n.*69del) c.54-969del c.933del (p.Lys312ArgfsTer19) c.1017del (p.Lys340ArgfsTer19) c.573del (p.Lys192ArgfsTer19) c.933del (p.Lys312ArgfsTer?) | COSMIC |
17 | g.7670659G>A | CA497712545 | TP53 | c.1050C>T (p.Leu350=) c.654C>T (p.Leu218=) c.771C>T (p.Leu257=) c.1029C>T (p.Leu343=) c.993+2876C>T (n.993+2876C>T) c.782+3522C>T (n.782+3522C>T) c.*157C>T (n.*157C>T) c.*69C>T (n.*69C>T) c.54-969C>T c.933C>T (p.Leu311=) c.1017C>T (p.Leu339=) c.573C>T (p.Leu191=) | ClinVar dbSNP |
17 | g.7670659G>C | CA497712547 | TP53 | c.1050C>G (p.Leu350=) c.654C>G (p.Leu218=) c.771C>G (p.Leu257=) c.1029C>G (p.Leu343=) c.993+2876C>G (n.993+2876C>G) c.782+3522C>G (n.782+3522C>G) c.*157C>G (n.*157C>G) c.*69C>G (n.*69C>G) c.54-969C>G c.933C>G (p.Leu311=) c.1017C>G (p.Leu339=) c.573C>G (p.Leu191=) | dbSNP COSMIC COSMIC |
17 | g.7670659G>T | CA497712548 | TP53 | c.1050C>A (p.Leu350=) c.654C>A (p.Leu218=) c.771C>A (p.Leu257=) c.1029C>A (p.Leu343=) c.993+2876C>A (n.993+2876C>A) c.782+3522C>A (n.782+3522C>A) c.*157C>A (n.*157C>A) c.*69C>A (n.*69C>A) c.54-969C>A c.933C>A (p.Leu311=) c.1017C>A (p.Leu339=) c.573C>A (p.Leu191=) | |
17 | g.7670660_7670661del | CA645369694 | TP53 | c.1049_1050del (p.Leu350GlnfsTer?) c.653_654del (p.Leu218GlnfsTer?) c.770_771del (p.Leu257GlnfsTer?) c.1028_1029del (p.Leu343GlnfsTer?) c.993+2875_993+2876del (n.993+2875_993+2876del) c.782+3521_782+3522del (n.782+3521_782+3522del) c.*156_*157del (n.*156_*157del) c.*68_*69del (n.*68_*69del) c.54-970_54-969del c.932_933del (p.Leu311GlnfsTer?) c.1016_1017del (p.Leu339GlnfsTer?) c.572_573del (p.Leu191GlnfsTer?) | ClinVar dbSNP |
17 | g.7670660A>C | CA397832335 | TP53 | c.1049T>G (p.Leu350Arg) c.653T>G (p.Leu218Arg) c.770T>G (p.Leu257Arg) c.1028T>G (p.Leu343Arg) c.993+2875T>G (n.993+2875T>G) c.782+3521T>G (n.782+3521T>G) c.*156T>G (n.*156T>G) c.*68T>G (n.*68T>G) c.54-970T>G c.932T>G (p.Leu311Arg) c.1016T>G (p.Leu339Arg) c.572T>G (p.Leu191Arg) | |
17 | g.7670660A>G | CA397832338 | TP53 | c.1049T>C (p.Leu350Pro) c.653T>C (p.Leu218Pro) c.770T>C (p.Leu257Pro) c.1028T>C (p.Leu343Pro) c.993+2875T>C (n.993+2875T>C) c.782+3521T>C (n.782+3521T>C) c.*156T>C (n.*156T>C) c.*68T>C (n.*68T>C) c.54-970T>C c.932T>C (p.Leu311Pro) c.1016T>C (p.Leu339Pro) c.572T>C (p.Leu191Pro) | ClinVar dbSNP |
17 | g.7670660A>T | CA397832322 | TP53 | c.1049T>A (p.Leu350His) c.653T>A (p.Leu218His) c.770T>A (p.Leu257His) c.1028T>A (p.Leu343His) c.993+2875T>A (n.993+2875T>A) c.782+3521T>A (n.782+3521T>A) c.*156T>A (n.*156T>A) c.*68T>A (n.*68T>A) c.54-970T>A c.932T>A (p.Leu311His) c.1016T>A (p.Leu339His) c.572T>A (p.Leu191His) | dbSNP |
17 | g.7670661G>A | CA397832343 | TP53 | c.1048C>T (p.Leu350Phe) c.652C>T (p.Leu218Phe) c.769C>T (p.Leu257Phe) c.1027C>T (p.Leu343Phe) c.993+2874C>T (n.993+2874C>T) c.782+3520C>T (n.782+3520C>T) c.*155C>T (n.*155C>T) c.*67C>T (n.*67C>T) c.54-971C>T c.931C>T (p.Leu311Phe) c.1015C>T (p.Leu339Phe) c.571C>T (p.Leu191Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.7670661G>C | CA000823 | TP53 | c.1048C>G (p.Leu350Val) c.652C>G (p.Leu218Val) c.769C>G (p.Leu257Val) c.1027C>G (p.Leu343Val) c.993+2874C>G (n.993+2874C>G) c.782+3520C>G (n.782+3520C>G) c.*155C>G (n.*155C>G) c.*67C>G (n.*67C>G) c.54-971C>G c.931C>G (p.Leu311Val) c.1015C>G (p.Leu339Val) c.571C>G (p.Leu191Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7670661G= | CA2245942705 | TP53 | c.1048C= (p.Leu350=) c.652C= (p.Leu218=) c.769C= (p.Leu257=) c.1027C= (p.Leu343=) c.993+2874C= (n.993+2874C=) c.782+3520C= (n.782+3520C=) c.*155C= (n.*155C=) c.*67C= (n.*67C=) c.54-971C= c.931C= (p.Leu311=) c.1015C= (p.Leu339=) c.571C= (p.Leu191=) | |
17 | g.7670661G>T | CA397832357 | TP53 | c.1048C>A (p.Leu350Ile) c.652C>A (p.Leu218Ile) c.769C>A (p.Leu257Ile) c.1027C>A (p.Leu343Ile) c.993+2874C>A (n.993+2874C>A) c.782+3520C>A (n.782+3520C>A) c.*155C>A (n.*155C>A) c.*67C>A (n.*67C>A) c.54-971C>A c.931C>A (p.Leu311Ile) c.1015C>A (p.Leu339Ile) c.571C>A (p.Leu191Ile) | dbSNP |
17 | g.7670662T>A | CA397832360 | TP53 | c.1047A>T (p.Glu349Asp) c.651A>T (p.Glu217Asp) c.768A>T (p.Glu256Asp) c.1026A>T (p.Glu342Asp) c.993+2873A>T (n.993+2873A>T) c.782+3519A>T (n.782+3519A>T) c.*154A>T (n.*154A>T) c.*66A>T (n.*66A>T) c.54-972A>T c.930A>T (p.Glu310Asp) c.1014A>T (p.Glu338Asp) c.570A>T (p.Glu190Asp) | dbSNP |
17 | g.7670662T>C | CA497712551 | TP53 | c.1047A>G (p.Glu349=) c.651A>G (p.Glu217=) c.768A>G (p.Glu256=) c.1026A>G (p.Glu342=) c.993+2873A>G (n.993+2873A>G) c.782+3519A>G (n.782+3519A>G) c.*154A>G (n.*154A>G) c.*66A>G (n.*66A>G) c.54-972A>G c.930A>G (p.Glu310=) c.1014A>G (p.Glu338=) c.570A>G (p.Glu190=) | |
17 | g.7670662T>G | CA397832362 | TP53 | c.1047A>C (p.Glu349Asp) c.651A>C (p.Glu217Asp) c.768A>C (p.Glu256Asp) c.1026A>C (p.Glu342Asp) c.993+2873A>C (n.993+2873A>C) c.782+3519A>C (n.782+3519A>C) c.*154A>C (n.*154A>C) c.*66A>C (n.*66A>C) c.54-972A>C c.930A>C (p.Glu310Asp) c.1014A>C (p.Glu338Asp) c.570A>C (p.Glu190Asp) | dbSNP |
17 | g.7670663T>A | CA397832367 | TP53 | c.1046A>T (p.Glu349Val) c.650A>T (p.Glu217Val) c.767A>T (p.Glu256Val) c.1025A>T (p.Glu342Val) c.993+2872A>T (n.993+2872A>T) c.782+3518A>T (n.782+3518A>T) c.*153A>T (n.*153A>T) c.*65A>T (n.*65A>T) c.54-973A>T c.929A>T (p.Glu310Val) c.1013A>T (p.Glu338Val) c.569A>T (p.Glu190Val) | |
17 | g.7670663T>C | CA397832369 | TP53 | c.1046A>G (p.Glu349Gly) c.650A>G (p.Glu217Gly) c.767A>G (p.Glu256Gly) c.1025A>G (p.Glu342Gly) c.993+2872A>G (n.993+2872A>G) c.782+3518A>G (n.782+3518A>G) c.*153A>G (n.*153A>G) c.*65A>G (n.*65A>G) c.54-973A>G c.929A>G (p.Glu310Gly) c.1013A>G (p.Glu338Gly) c.569A>G (p.Glu190Gly) | ClinVar |
17 | g.7670663T>G | CA397832373 | TP53 | c.1046A>C (p.Glu349Ala) c.650A>C (p.Glu217Ala) c.767A>C (p.Glu256Ala) c.1025A>C (p.Glu342Ala) c.993+2872A>C (n.993+2872A>C) c.782+3518A>C (n.782+3518A>C) c.*153A>C (n.*153A>C) c.*65A>C (n.*65A>C) c.54-973A>C c.929A>C (p.Glu310Ala) c.1013A>C (p.Glu338Ala) c.569A>C (p.Glu190Ala) | |
17 | g.7670664C>A | CA397832377 | TP53 | c.1045G>T (p.Glu349Ter) c.649G>T (p.Glu217Ter) c.766G>T (p.Glu256Ter) c.1024G>T (p.Glu342Ter) c.993+2871G>T (n.993+2871G>T) c.782+3517G>T (n.782+3517G>T) c.*152G>T (n.*152G>T) c.*64G>T (n.*64G>T) c.54-974G>T c.928G>T (p.Glu310Ter) c.1012G>T (p.Glu338Ter) c.568G>T (p.Glu190Ter) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670664C= | CA2245942730 | TP53 | c.1045G= (p.Glu349=) c.649G= (p.Glu217=) c.766G= (p.Glu256=) c.1024G= (p.Glu342=) c.993+2871G= (n.993+2871G=) c.782+3517G= (n.782+3517G=) c.*152G= (n.*152G=) c.*64G= (n.*64G=) c.54-974G= c.928G= (p.Glu310=) c.1012G= (p.Glu338=) c.568G= (p.Glu190=) | |
17 | g.7670664C>G | CA397832378 | TP53 | c.1045G>C (p.Glu349Gln) c.649G>C (p.Glu217Gln) c.766G>C (p.Glu256Gln) c.1024G>C (p.Glu342Gln) c.993+2871G>C (n.993+2871G>C) c.782+3517G>C (n.782+3517G>C) c.*152G>C (n.*152G>C) c.*64G>C (n.*64G>C) c.54-974G>C c.928G>C (p.Glu310Gln) c.1012G>C (p.Glu338Gln) c.568G>C (p.Glu190Gln) | ClinVar dbSNP gnomAD v4 |
17 | g.7670664C>T | CA397832380 | TP53 | c.1045G>A (p.Glu349Lys) c.649G>A (p.Glu217Lys) c.766G>A (p.Glu256Lys) c.1024G>A (p.Glu342Lys) c.993+2871G>A (n.993+2871G>A) c.782+3517G>A (n.782+3517G>A) c.*152G>A (n.*152G>A) c.*64G>A (n.*64G>A) c.54-974G>A c.928G>A (p.Glu310Lys) c.1012G>A (p.Glu338Lys) c.568G>A (p.Glu190Lys) | ClinVar dbSNP |
17 | g.7670665del | CA497712556 | TP53 | c.1045del (p.Glu349AsnfsTer21) c.649del (p.Glu217AsnfsTer21) c.766del (p.Glu256AsnfsTer21) c.1024del (p.Glu342AsnfsTer21) c.993+2871del (n.993+2871del) c.782+3517del (n.782+3517del) c.*152del (n.*152del) c.*64del (n.*64del) c.54-974del c.928del (p.Glu310AsnfsTer21) c.1012del (p.Glu338AsnfsTer21) c.568del (p.Glu190AsnfsTer21) c.928del (p.Glu310AsnfsTer?) | dbSNP COSMIC COSMIC |
17 | g.7670665C>A | CA397832382 | TP53 | c.1044G>T (p.Leu348Phe) c.648G>T (p.Leu216Phe) c.765G>T (p.Leu255Phe) c.1023G>T (p.Leu341Phe) c.993+2870G>T (n.993+2870G>T) c.782+3516G>T (n.782+3516G>T) c.*151G>T (n.*151G>T) c.*63G>T (n.*63G>T) c.54-975G>T c.927G>T (p.Leu309Phe) c.1011G>T (p.Leu337Phe) c.567G>T (p.Leu189Phe) | dbSNP COSMIC COSMIC |
17 | g.7670665C>G | CA397832388 | TP53 | c.1044G>C (p.Leu348Phe) c.648G>C (p.Leu216Phe) c.765G>C (p.Leu255Phe) c.1023G>C (p.Leu341Phe) c.993+2870G>C (n.993+2870G>C) c.782+3516G>C (n.782+3516G>C) c.*151G>C (n.*151G>C) c.*63G>C (n.*63G>C) c.54-975G>C c.927G>C (p.Leu309Phe) c.1011G>C (p.Leu337Phe) c.567G>C (p.Leu189Phe) | |
17 | g.7670665C>T | CA497712558 | TP53 | c.1044G>A (p.Leu348=) c.648G>A (p.Leu216=) c.765G>A (p.Leu255=) c.1023G>A (p.Leu341=) c.993+2870G>A (n.993+2870G>A) c.782+3516G>A (n.782+3516G>A) c.*151G>A (n.*151G>A) c.*63G>A (n.*63G>A) c.54-975G>A c.927G>A (p.Leu309=) c.1011G>A (p.Leu337=) c.567G>A (p.Leu189=) | ClinVar dbSNP |
17 | g.7670666A>C | CA397832394 | TP53 | c.1043T>G (p.Leu348Trp) c.647T>G (p.Leu216Trp) c.764T>G (p.Leu255Trp) c.1022T>G (p.Leu341Trp) c.993+2869T>G (n.993+2869T>G) c.782+3515T>G (n.782+3515T>G) c.*150T>G (n.*150T>G) c.*62T>G (n.*62T>G) c.54-976T>G c.926T>G (p.Leu309Trp) c.1010T>G (p.Leu337Trp) c.566T>G (p.Leu189Trp) | COSMIC COSMIC |
17 | g.7670666A>G | CA397832401 | TP53 | c.1043T>C (p.Leu348Ser) c.647T>C (p.Leu216Ser) c.764T>C (p.Leu255Ser) c.1022T>C (p.Leu341Ser) c.993+2869T>C (n.993+2869T>C) c.782+3515T>C (n.782+3515T>C) c.*150T>C (n.*150T>C) c.*62T>C (n.*62T>C) c.54-976T>C c.926T>C (p.Leu309Ser) c.1010T>C (p.Leu337Ser) c.566T>C (p.Leu189Ser) | ClinVar dbSNP |
17 | g.7670666A>T | CA397832404 | TP53 | c.1043T>A (p.Leu348Ter) c.647T>A (p.Leu216Ter) c.764T>A (p.Leu255Ter) c.1022T>A (p.Leu341Ter) c.993+2869T>A (n.993+2869T>A) c.782+3515T>A (n.782+3515T>A) c.*150T>A (n.*150T>A) c.*62T>A (n.*62T>A) c.54-976T>A c.926T>A (p.Leu309Ter) c.1010T>A (p.Leu337Ter) c.566T>A (p.Leu189Ter) | dbSNP COSMIC COSMIC |
17 | g.7670667del | CA2499224951 | TP53 | c.1043del (p.Leu348TrpfsTer22) c.647del (p.Leu216TrpfsTer22) c.764del (p.Leu255TrpfsTer22) c.1022del (p.Leu341TrpfsTer22) c.993+2869del (n.993+2869del) c.782+3515del (n.782+3515del) c.*150del (n.*150del) c.*62del (n.*62del) c.54-976del c.926del (p.Leu309TrpfsTer22) c.1010del (p.Leu337TrpfsTer22) c.566del (p.Leu189TrpfsTer22) c.926del (p.Leu309TrpfsTer?) | ClinVar dbSNP |
17 | g.7670667A= | CA2245942743 | TP53 | c.1042T= (p.Leu348=) c.646T= (p.Leu216=) c.763T= (p.Leu255=) c.1021T= (p.Leu341=) c.993+2868T= (n.993+2868T=) c.782+3514T= (n.782+3514T=) c.*149T= (n.*149T=) c.*61T= (n.*61T=) c.54-977T= c.925T= (p.Leu309=) c.1009T= (p.Leu337=) c.565T= (p.Leu189=) | |
17 | g.7670667A>C | CA16615934 | TP53 | c.1042T>G (p.Leu348Val) c.646T>G (p.Leu216Val) c.763T>G (p.Leu255Val) c.1021T>G (p.Leu341Val) c.993+2868T>G (n.993+2868T>G) c.782+3514T>G (n.782+3514T>G) c.*149T>G (n.*149T>G) c.*61T>G (n.*61T>G) c.54-977T>G c.925T>G (p.Leu309Val) c.1009T>G (p.Leu337Val) c.565T>G (p.Leu189Val) | ClinVar dbSNP |
17 | g.7670667A>G | CA497712561 | TP53 | c.1042T>C (p.Leu348=) c.646T>C (p.Leu216=) c.763T>C (p.Leu255=) c.1021T>C (p.Leu341=) c.993+2868T>C (n.993+2868T>C) c.782+3514T>C (n.782+3514T>C) c.*149T>C (n.*149T>C) c.*61T>C (n.*61T>C) c.54-977T>C c.925T>C (p.Leu309=) c.1009T>C (p.Leu337=) c.565T>C (p.Leu189=) | |
17 | g.7670667A>T | CA397832417 | TP53 | c.1042T>A (p.Leu348Met) c.646T>A (p.Leu216Met) c.763T>A (p.Leu255Met) c.1021T>A (p.Leu341Met) c.993+2868T>A (n.993+2868T>A) c.782+3514T>A (n.782+3514T>A) c.*149T>A (n.*149T>A) c.*61T>A (n.*61T>A) c.54-977T>A c.925T>A (p.Leu309Met) c.1009T>A (p.Leu337Met) c.565T>A (p.Leu189Met) | dbSNP |
17 | g.7670672_7670673insTAGGCCT | CA645587299 | TP53 | c.1042_1043insAAGGCCT (p.Leu348Ter) c.646_647insAAGGCCT (p.Leu216Ter) c.763_764insAAGGCCT (p.Leu255Ter) c.1021_1022insAAGGCCT (p.Leu341Ter) c.993+2868_993+2869insAAGGCCT (n.993+2868_993+2869insAAGGCCT) c.782+3514_782+3515insAAGGCCT (n.782+3514_782+3515insAAGGCCT) c.*149_*150insAAGGCCT (n.*149_*150insAAGGCCT) c.*61_*62insAAGGCCT (n.*61_*62insAAGGCCT) c.54-977_54-976insAAGGCCT c.925_926insAAGGCCT (p.Leu309Ter) c.1009_1010insAAGGCCT (p.Leu337Ter) c.565_566insAAGGCCT (p.Leu189Ter) | COSMIC |
17 | g.7670667_7670679del | CA645587298 | TP53 | c.1030_1042del (p.Leu344TrpfsTer22) c.634_646del (p.Leu212TrpfsTer22) c.751_763del (p.Leu251TrpfsTer22) c.1009_1021del (p.Leu337TrpfsTer22) c.993+2856_993+2868del (n.993+2856_993+2868del) c.782+3502_782+3514del (n.782+3502_782+3514del) c.*137_*149del (n.*137_*149del) c.*49_*61del (n.*49_*61del) c.54-989_54-977del c.913_925del (p.Leu305TrpfsTer22) c.997_1009del (p.Leu333TrpfsTer22) c.553_565del (p.Leu185TrpfsTer22) c.913_925del (p.Leu305TrpfsTer?) | COSMIC |
17 | g.7670668G>A | CA497712567 | TP53 | c.1041C>T (p.Ala347=) c.645C>T (p.Ala215=) c.762C>T (p.Ala254=) c.1020C>T (p.Ala340=) c.993+2867C>T (n.993+2867C>T) c.782+3513C>T (n.782+3513C>T) c.*148C>T (n.*148C>T) c.*60C>T (n.*60C>T) c.54-978C>T c.924C>T (p.Ala308=) c.1008C>T (p.Ala336=) c.564C>T (p.Ala188=) | ClinVar dbSNP gnomAD v2 |
17 | g.7670668G>C | CA497712566 | TP53 | c.1041C>G (p.Ala347=) c.645C>G (p.Ala215=) c.762C>G (p.Ala254=) c.1020C>G (p.Ala340=) c.993+2867C>G (n.993+2867C>G) c.782+3513C>G (n.782+3513C>G) c.*148C>G (n.*148C>G) c.*60C>G (n.*60C>G) c.54-978C>G c.924C>G (p.Ala308=) c.1008C>G (p.Ala336=) c.564C>G (p.Ala188=) | ClinVar dbSNP |
17 | g.7670668G= | CA2245942752 | TP53 | c.1041C= (p.Ala347=) c.645C= (p.Ala215=) c.762C= (p.Ala254=) c.1020C= (p.Ala340=) c.993+2867C= (n.993+2867C=) c.782+3513C= (n.782+3513C=) c.*148C= (n.*148C=) c.*60C= (n.*60C=) c.54-978C= c.924C= (p.Ala308=) c.1008C= (p.Ala336=) c.564C= (p.Ala188=) | |
17 | g.7670668G>T | CA497712568 | TP53 | c.1041C>A (p.Ala347=) c.645C>A (p.Ala215=) c.762C>A (p.Ala254=) c.1020C>A (p.Ala340=) c.993+2867C>A (n.993+2867C>A) c.782+3513C>A (n.782+3513C>A) c.*148C>A (n.*148C>A) c.*60C>A (n.*60C>A) c.54-978C>A c.924C>A (p.Ala308=) c.1008C>A (p.Ala336=) c.564C>A (p.Ala188=) | dbSNP |
17 | g.7670669del | CA497712564 | TP53 | c.1041del (p.Leu348TrpfsTer22) c.645del (p.Leu216TrpfsTer22) c.762del (p.Leu255TrpfsTer22) c.1020del (p.Leu341TrpfsTer22) c.993+2867del (n.993+2867del) c.782+3513del (n.782+3513del) c.*148del (n.*148del) c.*60del (n.*60del) c.54-978del c.924del (p.Leu309TrpfsTer22) c.1008del (p.Leu337TrpfsTer22) c.564del (p.Leu189TrpfsTer22) c.924del (p.Leu309TrpfsTer?) | COSMIC |
17 | g.7670669G>A | CA16620609 | TP53 | c.1040C>T (p.Ala347Val) c.644C>T (p.Ala215Val) c.761C>T (p.Ala254Val) c.1019C>T (p.Ala340Val) c.993+2866C>T (n.993+2866C>T) c.782+3512C>T (n.782+3512C>T) c.*147C>T (n.*147C>T) c.*59C>T (n.*59C>T) c.54-979C>T c.923C>T (p.Ala308Val) c.1007C>T (p.Ala336Val) c.563C>T (p.Ala188Val) | ClinVar dbSNP |
17 | g.7670669G>C | CA397832423 | TP53 | c.1040C>G (p.Ala347Gly) c.644C>G (p.Ala215Gly) c.761C>G (p.Ala254Gly) c.1019C>G (p.Ala340Gly) c.993+2866C>G (n.993+2866C>G) c.782+3512C>G (n.782+3512C>G) c.*147C>G (n.*147C>G) c.*59C>G (n.*59C>G) c.54-979C>G c.923C>G (p.Ala308Gly) c.1007C>G (p.Ala336Gly) c.563C>G (p.Ala188Gly) | ClinVar dbSNP COSMIC |
17 | g.7670669G= | CA2245942767 | TP53 | c.1040C= (p.Ala347=) c.644C= (p.Ala215=) c.761C= (p.Ala254=) c.1019C= (p.Ala340=) c.993+2866C= (n.993+2866C=) c.782+3512C= (n.782+3512C=) c.*147C= (n.*147C=) c.*59C= (n.*59C=) c.54-979C= c.923C= (p.Ala308=) c.1007C= (p.Ala336=) c.563C= (p.Ala188=) | |
17 | g.7670669G>T | CA000022 | TP53 | c.1040C>A (p.Ala347Asp) c.644C>A (p.Ala215Asp) c.761C>A (p.Ala254Asp) c.1019C>A (p.Ala340Asp) c.993+2866C>A (n.993+2866C>A) c.782+3512C>A (n.782+3512C>A) c.*147C>A (n.*147C>A) c.*59C>A (n.*59C>A) c.54-979C>A c.923C>A (p.Ala308Asp) c.1007C>A (p.Ala336Asp) c.563C>A (p.Ala188Asp) | ClinVar dbSNP |
17 | g.7670669_7670670delinsAA | CA2580094845 | TP53 | c.1039_1040delinsTT (p.Ala347Phe) c.643_644delinsTT (p.Ala215Phe) c.760_761delinsTT (p.Ala254Phe) c.1018_1019delinsTT (p.Ala340Phe) c.993+2865_993+2866delinsTT (n.993+2865_993+2866delinsTT) c.782+3511_782+3512delinsTT (n.782+3511_782+3512delinsTT) c.*146_*147delinsTT (n.*146_*147delinsTT) c.*58_*59delinsTT (n.*58_*59delinsTT) c.54-980_54-979delinsTT c.922_923delinsTT (p.Ala308Phe) c.1006_1007delinsTT (p.Ala336Phe) c.562_563delinsTT (p.Ala188Phe) | ClinVar |
17 | g.7670669_7670671del | CA2695224215 | TP53 | c.1038_1040del (p.Glu346_Ala347delinsAsp) c.642_644del (p.Glu214_Ala215delinsAsp) c.759_761del (p.Glu253_Ala254delinsAsp) c.1017_1019del (p.Glu339_Ala340delinsAsp) c.993+2864_993+2866del (n.993+2864_993+2866del) c.782+3510_782+3512del (n.782+3510_782+3512del) c.*145_*147del (n.*145_*147del) c.*57_*59del (n.*57_*59del) c.54-981_54-979del c.921_923del (p.Glu307_Ala308delinsAsp) c.1005_1007del (p.Glu335_Ala336delinsAsp) c.561_563del (p.Glu187_Ala188delinsAsp) | |
17 | g.7670671_7670680del | CA645587300 | TP53 | c.1031_1040del (p.Leu344ProfsTer23) c.635_644del (p.Leu212ProfsTer23) c.752_761del (p.Leu251ProfsTer23) c.1010_1019del (p.Leu337ProfsTer23) c.993+2857_993+2866del (n.993+2857_993+2866del) c.782+3503_782+3512del (n.782+3503_782+3512del) c.*138_*147del (n.*138_*147del) c.*50_*59del (n.*50_*59del) c.54-988_54-979del c.914_923del (p.Leu305ProfsTer23) c.998_1007del (p.Leu333ProfsTer23) c.554_563del (p.Leu185ProfsTer23) c.914_923del (p.Leu305ProfsTer?) | COSMIC COSMIC |
17 | g.7670670C>A | CA397832426 | TP53 | c.1039G>T (p.Ala347Ser) c.643G>T (p.Ala215Ser) c.760G>T (p.Ala254Ser) c.1018G>T (p.Ala340Ser) c.993+2865G>T (n.993+2865G>T) c.782+3511G>T (n.782+3511G>T) c.*146G>T (n.*146G>T) c.*58G>T (n.*58G>T) c.54-980G>T c.922G>T (p.Ala308Ser) c.1006G>T (p.Ala336Ser) c.562G>T (p.Ala188Ser) | ClinVar dbSNP |
17 | g.7670670C= | CA2245942772 | TP53 | c.1039G= (p.Ala347=) c.643G= (p.Ala215=) c.760G= (p.Ala254=) c.1018G= (p.Ala340=) c.993+2865G= (n.993+2865G=) c.782+3511G= (n.782+3511G=) c.*146G= (n.*146G=) c.*58G= (n.*58G=) c.54-980G= c.922G= (p.Ala308=) c.1006G= (p.Ala336=) c.562G= (p.Ala188=) | |
17 | g.7670670C>G | CA397832440 | TP53 | c.1039G>C (p.Ala347Pro) c.643G>C (p.Ala215Pro) c.760G>C (p.Ala254Pro) c.1018G>C (p.Ala340Pro) c.993+2865G>C (n.993+2865G>C) c.782+3511G>C (n.782+3511G>C) c.*146G>C (n.*146G>C) c.*58G>C (n.*58G>C) c.54-980G>C c.922G>C (p.Ala308Pro) c.1006G>C (p.Ala336Pro) c.562G>C (p.Ala188Pro) | dbSNP |
17 | g.7670670C>T | CA397832443 | TP53 | c.1039G>A (p.Ala347Thr) c.643G>A (p.Ala215Thr) c.760G>A (p.Ala254Thr) c.1018G>A (p.Ala340Thr) c.993+2865G>A (n.993+2865G>A) c.782+3511G>A (n.782+3511G>A) c.*146G>A (n.*146G>A) c.*58G>A (n.*58G>A) c.54-980G>A c.922G>A (p.Ala308Thr) c.1006G>A (p.Ala336Thr) c.562G>A (p.Ala188Thr) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670671del | CA1139768343 | TP53 | c.1039del (p.Ala347ProfsTer23) c.643del (p.Ala215ProfsTer23) c.760del (p.Ala254ProfsTer23) c.1018del (p.Ala340ProfsTer23) c.993+2865del (n.993+2865del) c.782+3511del (n.782+3511del) c.*146del (n.*146del) c.*58del (n.*58del) c.54-980del c.922del (p.Ala308ProfsTer23) c.1006del (p.Ala336ProfsTer23) c.562del (p.Ala188ProfsTer23) c.922del (p.Ala308ProfsTer?) | ClinVar |
17 | g.7670671C>A | CA397832446 | TP53 | c.1038G>T (p.Glu346Asp) c.642G>T (p.Glu214Asp) c.759G>T (p.Glu253Asp) c.1017G>T (p.Glu339Asp) c.993+2864G>T (n.993+2864G>T) c.782+3510G>T (n.782+3510G>T) c.*145G>T (n.*145G>T) c.*57G>T (n.*57G>T) c.54-981G>T c.921G>T (p.Glu307Asp) c.1005G>T (p.Glu335Asp) c.561G>T (p.Glu187Asp) | dbSNP |
17 | g.7670671C= | CA2245942783 | TP53 | c.1038G= (p.Glu346=) c.642G= (p.Glu214=) c.759G= (p.Glu253=) c.1017G= (p.Glu339=) c.993+2864G= (n.993+2864G=) c.782+3510G= (n.782+3510G=) c.*145G= (n.*145G=) c.*57G= (n.*57G=) c.54-981G= c.921G= (p.Glu307=) c.1005G= (p.Glu335=) c.561G= (p.Glu187=) | |
17 | g.7670671C>G | CA397832451 | TP53 | c.1038G>C (p.Glu346Asp) c.642G>C (p.Glu214Asp) c.759G>C (p.Glu253Asp) c.1017G>C (p.Glu339Asp) c.993+2864G>C (n.993+2864G>C) c.782+3510G>C (n.782+3510G>C) c.*145G>C (n.*145G>C) c.*57G>C (n.*57G>C) c.54-981G>C c.921G>C (p.Glu307Asp) c.1005G>C (p.Glu335Asp) c.561G>C (p.Glu187Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7670671C>T | CA497712572 | TP53 | c.1038G>A (p.Glu346=) c.642G>A (p.Glu214=) c.759G>A (p.Glu253=) c.1017G>A (p.Glu339=) c.993+2864G>A (n.993+2864G>A) c.782+3510G>A (n.782+3510G>A) c.*145G>A (n.*145G>A) c.*57G>A (n.*57G>A) c.54-981G>A c.921G>A (p.Glu307=) c.1005G>A (p.Glu335=) c.561G>A (p.Glu187=) | ClinVar dbSNP |
17 | g.7670672T>A | CA397832452 | TP53 | c.1037A>T (p.Glu346Val) c.641A>T (p.Glu214Val) c.758A>T (p.Glu253Val) c.1016A>T (p.Glu339Val) c.993+2863A>T (n.993+2863A>T) c.782+3509A>T (n.782+3509A>T) c.*144A>T (n.*144A>T) c.*56A>T (n.*56A>T) c.54-982A>T c.920A>T (p.Glu307Val) c.1004A>T (p.Glu335Val) c.560A>T (p.Glu187Val) | dbSNP |
17 | g.7670672T>C | CA397832453 | TP53 | c.1037A>G (p.Glu346Gly) c.641A>G (p.Glu214Gly) c.758A>G (p.Glu253Gly) c.1016A>G (p.Glu339Gly) c.993+2863A>G (n.993+2863A>G) c.782+3509A>G (n.782+3509A>G) c.*144A>G (n.*144A>G) c.*56A>G (n.*56A>G) c.54-982A>G c.920A>G (p.Glu307Gly) c.1004A>G (p.Glu335Gly) c.560A>G (p.Glu187Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.7670672T>G | CA397832454 | TP53 | c.1037A>C (p.Glu346Ala) c.641A>C (p.Glu214Ala) c.758A>C (p.Glu253Ala) c.1016A>C (p.Glu339Ala) c.993+2863A>C (n.993+2863A>C) c.782+3509A>C (n.782+3509A>C) c.*144A>C (n.*144A>C) c.*56A>C (n.*56A>C) c.54-982A>C c.920A>C (p.Glu307Ala) c.1004A>C (p.Glu335Ala) c.560A>C (p.Glu187Ala) | COSMIC |
17 | g.7670672_7670673delinsTC | CA2245942796 | TP53 | c.1036_1037delinsGA (p.Glu346=) c.640_641delinsGA (p.Glu214=) c.757_758delinsGA (p.Glu253=) c.1015_1016delinsGA (p.Glu339=) c.993+2862_993+2863delinsGA (n.993+2862_993+2863delinsGA) c.782+3508_782+3509delinsGA (n.782+3508_782+3509delinsGA) c.*143_*144delinsGA (n.*143_*144delinsGA) c.*55_*56delinsGA (n.*55_*56delinsGA) c.54-983_54-982delinsGA c.919_920delinsGA (p.Glu307=) c.1003_1004delinsGA (p.Glu335=) c.559_560delinsGA (p.Glu187=) | |
17 | g.7670673del | CA913190570 | TP53 | c.1036del (p.Glu346ArgfsTer24) c.640del (p.Glu214ArgfsTer24) c.757del (p.Glu253ArgfsTer24) c.1015del (p.Glu339ArgfsTer24) c.993+2862del (n.993+2862del) c.782+3508del (n.782+3508del) c.*143del (n.*143del) c.*55del (n.*55del) c.54-983del c.919del (p.Glu307ArgfsTer24) c.1003del (p.Glu335ArgfsTer24) c.559del (p.Glu187ArgfsTer24) c.919del (p.Glu307ArgfsTer?) | ClinVar dbSNP |
17 | g.7670673C>A | CA397832461 | TP53 | c.1036G>T (p.Glu346Ter) c.640G>T (p.Glu214Ter) c.757G>T (p.Glu253Ter) c.1015G>T (p.Glu339Ter) c.993+2862G>T (n.993+2862G>T) c.782+3508G>T (n.782+3508G>T) c.*143G>T (n.*143G>T) c.*55G>T (n.*55G>T) c.54-983G>T c.919G>T (p.Glu307Ter) c.1003G>T (p.Glu335Ter) c.559G>T (p.Glu187Ter) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670673C= | CA2245942812 | TP53 | c.1036G= (p.Glu346=) c.640G= (p.Glu214=) c.757G= (p.Glu253=) c.1015G= (p.Glu339=) c.993+2862G= (n.993+2862G=) c.782+3508G= (n.782+3508G=) c.*143G= (n.*143G=) c.*55G= (n.*55G=) c.54-983G= c.919G= (p.Glu307=) c.1003G= (p.Glu335=) c.559G= (p.Glu187=) | |
17 | g.7670673C>G | CA397832457 | TP53 | c.1036G>C (p.Glu346Gln) c.640G>C (p.Glu214Gln) c.757G>C (p.Glu253Gln) c.1015G>C (p.Glu339Gln) c.993+2862G>C (n.993+2862G>C) c.782+3508G>C (n.782+3508G>C) c.*143G>C (n.*143G>C) c.*55G>C (n.*55G>C) c.54-983G>C c.919G>C (p.Glu307Gln) c.1003G>C (p.Glu335Gln) c.559G>C (p.Glu187Gln) | dbSNP |
17 | g.7670673C>T | CA397832455 | TP53 | c.1036G>A (p.Glu346Lys) c.640G>A (p.Glu214Lys) c.757G>A (p.Glu253Lys) c.1015G>A (p.Glu339Lys) c.993+2862G>A (n.993+2862G>A) c.782+3508G>A (n.782+3508G>A) c.*143G>A (n.*143G>A) c.*55G>A (n.*55G>A) c.54-983G>A c.919G>A (p.Glu307Lys) c.1003G>A (p.Glu335Lys) c.559G>A (p.Glu187Lys) | ClinVar dbSNP gnomAD v4 |
17 | g.7670674A>C | CA397832471 | TP53 | c.1035T>G (p.Asn345Lys) c.639T>G (p.Asn213Lys) c.756T>G (p.Asn252Lys) c.1014T>G (p.Asn338Lys) c.993+2861T>G (n.993+2861T>G) c.782+3507T>G (n.782+3507T>G) c.*142T>G (n.*142T>G) c.*54T>G (n.*54T>G) c.54-984T>G c.918T>G (p.Asn306Lys) c.1002T>G (p.Asn334Lys) c.558T>G (p.Asn186Lys) | |
17 | g.7670674A>G | CA497712579 | TP53 | c.1035T>C (p.Asn345=) c.639T>C (p.Asn213=) c.756T>C (p.Asn252=) c.1014T>C (p.Asn338=) c.993+2861T>C (n.993+2861T>C) c.782+3507T>C (n.782+3507T>C) c.*142T>C (n.*142T>C) c.*54T>C (n.*54T>C) c.54-984T>C c.918T>C (p.Asn306=) c.1002T>C (p.Asn334=) c.558T>C (p.Asn186=) | gnomAD v4 |
17 | g.7670674A>T | CA397832473 | TP53 | c.1035T>A (p.Asn345Lys) c.639T>A (p.Asn213Lys) c.756T>A (p.Asn252Lys) c.1014T>A (p.Asn338Lys) c.993+2861T>A (n.993+2861T>A) c.782+3507T>A (n.782+3507T>A) c.*142T>A (n.*142T>A) c.*54T>A (n.*54T>A) c.54-984T>A c.918T>A (p.Asn306Lys) c.1002T>A (p.Asn334Lys) c.558T>A (p.Asn186Lys) | dbSNP |
17 | g.7670674_7670682delinsATTCAGCTC | CA2245942816 | TP53 | c.1027_1035delinsGAGCTGAAT (p.Glu343=) c.631_639delinsGAGCTGAAT (p.Glu211=) c.748_756delinsGAGCTGAAT (p.Glu250=) c.1006_1014delinsGAGCTGAAT (p.Glu336=) c.993+2853_993+2861delinsGAGCTGAAT (n.993+2853_993+2861delinsGAGCTGAAT) c.782+3499_782+3507delinsGAGCTGAAT (n.782+3499_782+3507delinsGAGCTGAAT) c.*134_*142delinsGAGCTGAAT (n.*134_*142delinsGAGCTGAAT) c.*46_*54delinsGAGCTGAAT (n.*46_*54delinsGAGCTGAAT) c.54-992_54-984delinsGAGCTGAAT c.910_918delinsGAGCTGAAT (p.Glu304=) c.994_1002delinsGAGCTGAAT (p.Glu332=) c.550_558delinsGAGCTGAAT (p.Glu184=) | |
17 | g.7670674_7670685del | CA645587301 | TP53 | c.1024_1035del (p.Arg342_Asn345del) c.628_639del (p.Arg210_Asn213del) c.745_756del (p.Arg249_Asn252del) c.1003_1014del (p.Arg335_Asn338del) c.993+2850_993+2861del (n.993+2850_993+2861del) c.782+3496_782+3507del (n.782+3496_782+3507del) c.*131_*142del (n.*131_*142del) c.*43_*54del (n.*43_*54del) c.54-995_54-984del c.907_918del (p.Arg303_Asn306del) c.991_1002del (p.Arg331_Asn334del) c.547_558del (p.Arg183_Asn186del) | COSMIC |
17 | g.7670675T>A | CA397832480 | TP53 | c.1034A>T (p.Asn345Ile) c.638A>T (p.Asn213Ile) c.755A>T (p.Asn252Ile) c.1013A>T (p.Asn338Ile) c.993+2860A>T (n.993+2860A>T) c.782+3506A>T (n.782+3506A>T) c.*141A>T (n.*141A>T) c.*53A>T (n.*53A>T) c.54-985A>T c.917A>T (p.Asn306Ile) c.1001A>T (p.Asn334Ile) c.557A>T (p.Asn186Ile) | COSMIC COSMIC |
17 | g.7670675T>C | CA397832487 | TP53 | c.1034A>G (p.Asn345Ser) c.638A>G (p.Asn213Ser) c.755A>G (p.Asn252Ser) c.1013A>G (p.Asn338Ser) c.993+2860A>G (n.993+2860A>G) c.782+3506A>G (n.782+3506A>G) c.*141A>G (n.*141A>G) c.*53A>G (n.*53A>G) c.54-985A>G c.917A>G (p.Asn306Ser) c.1001A>G (p.Asn334Ser) c.557A>G (p.Asn186Ser) | |
17 | g.7670675T>G | CA397832489 | TP53 | c.1034A>C (p.Asn345Thr) c.638A>C (p.Asn213Thr) c.755A>C (p.Asn252Thr) c.1013A>C (p.Asn338Thr) c.993+2860A>C (n.993+2860A>C) c.782+3506A>C (n.782+3506A>C) c.*141A>C (n.*141A>C) c.*53A>C (n.*53A>C) c.54-985A>C c.917A>C (p.Asn306Thr) c.1001A>C (p.Asn334Thr) c.557A>C (p.Asn186Thr) | |
17 | g.7670676del | CA497712584 | TP53 | c.1034del (p.Asn345MetfsTer25) c.638del (p.Asn213MetfsTer25) c.755del (p.Asn252MetfsTer25) c.1013del (p.Asn338MetfsTer25) c.993+2860del (n.993+2860del) c.782+3506del (n.782+3506del) c.*141del (n.*141del) c.*53del (n.*53del) c.54-985del c.917del (p.Asn306MetfsTer25) c.1001del (p.Asn334MetfsTer25) c.557del (p.Asn186MetfsTer25) c.917del (p.Asn306MetfsTer?) | COSMIC |
17 | g.7670676_7670683del | CA913190571 | TP53 | c.1027_1034del (p.Glu343Ter) c.631_638del (p.Glu211Ter) c.748_755del (p.Glu250Ter) c.1006_1013del (p.Glu336Ter) c.993+2853_993+2860del (n.993+2853_993+2860del) c.782+3499_782+3506del (n.782+3499_782+3506del) c.*134_*141del (n.*134_*141del) c.*46_*53del (n.*46_*53del) c.54-992_54-985del c.910_917del (p.Glu304Ter) c.994_1001del (p.Glu332Ter) c.550_557del (p.Glu184Ter) | ClinVar dbSNP |
17 | g.7670675_7670684dup | CA645587302 | TP53 | c.1025_1034dup (p.Asn345LysfsTer5) c.629_638dup (p.Asn213LysfsTer5) c.746_755dup (p.Asn252LysfsTer5) c.1004_1013dup (p.Asn338LysfsTer5) c.993+2851_993+2860dup (n.993+2851_993+2860dup) c.782+3497_782+3506dup (n.782+3497_782+3506dup) c.*132_*141dup (n.*132_*141dup) c.*44_*53dup (n.*44_*53dup) c.54-994_54-985dup c.908_917dup (p.Asn306LysfsTer5) c.992_1001dup (p.Asn334LysfsTer5) c.548_557dup (p.Asn186LysfsTer5) | COSMIC COSMIC |
17 | g.7670676T>A | CA397832491 | TP53 | c.1033A>T (p.Asn345Tyr) c.637A>T (p.Asn213Tyr) c.754A>T (p.Asn252Tyr) c.1012A>T (p.Asn338Tyr) c.993+2859A>T (n.993+2859A>T) c.782+3505A>T (n.782+3505A>T) c.*140A>T (n.*140A>T) c.*52A>T (n.*52A>T) c.54-986A>T c.916A>T (p.Asn306Tyr) c.1000A>T (p.Asn334Tyr) c.556A>T (p.Asn186Tyr) | dbSNP |
17 | g.7670676T>C | CA397832493 | TP53 | c.1033A>G (p.Asn345Asp) c.637A>G (p.Asn213Asp) c.754A>G (p.Asn252Asp) c.1012A>G (p.Asn338Asp) c.993+2859A>G (n.993+2859A>G) c.782+3505A>G (n.782+3505A>G) c.*140A>G (n.*140A>G) c.*52A>G (n.*52A>G) c.54-986A>G c.916A>G (p.Asn306Asp) c.1000A>G (p.Asn334Asp) c.556A>G (p.Asn186Asp) | COSMIC COSMIC |
17 | g.7670676T>G | CA397832498 | TP53 | c.1033A>C (p.Asn345His) c.637A>C (p.Asn213His) c.754A>C (p.Asn252His) c.1012A>C (p.Asn338His) c.993+2859A>C (n.993+2859A>C) c.782+3505A>C (n.782+3505A>C) c.*140A>C (n.*140A>C) c.*52A>C (n.*52A>C) c.54-986A>C c.916A>C (p.Asn306His) c.1000A>C (p.Asn334His) c.556A>C (p.Asn186His) | |
17 | g.7670676_7670677del | CA645587303 | TP53 | c.1032_1033del (p.Asn345Ter) c.636_637del (p.Asn213Ter) c.753_754del (p.Asn252Ter) c.1011_1012del (p.Asn338Ter) c.993+2858_993+2859del (n.993+2858_993+2859del) c.782+3504_782+3505del (n.782+3504_782+3505del) c.*139_*140del (n.*139_*140del) c.*51_*52del (n.*51_*52del) c.54-987_54-986del c.915_916del (p.Asn306Ter) c.999_1000del (p.Asn334Ter) c.555_556del (p.Asn186Ter) | COSMIC COSMIC |
17 | g.7670677del | CA497712589 | TP53 | c.1032del (p.Asn345MetfsTer25) c.636del (p.Asn213MetfsTer25) c.753del (p.Asn252MetfsTer25) c.1011del (p.Asn338MetfsTer25) c.993+2858del (n.993+2858del) c.782+3504del (n.782+3504del) c.*139del (n.*139del) c.*51del (n.*51del) c.54-987del c.915del (p.Asn306MetfsTer25) c.999del (p.Asn334MetfsTer25) c.555del (p.Asn186MetfsTer25) c.915del (p.Asn306MetfsTer?) | COSMIC |
17 | g.7670677C>A | CA497712588 | TP53 | c.1032G>T (p.Leu344=) c.636G>T (p.Leu212=) c.753G>T (p.Leu251=) c.1011G>T (p.Leu337=) c.993+2858G>T (n.993+2858G>T) c.782+3504G>T (n.782+3504G>T) c.*139G>T (n.*139G>T) c.*51G>T (n.*51G>T) c.54-987G>T c.915G>T (p.Leu305=) c.999G>T (p.Leu333=) c.555G>T (p.Leu185=) | |
17 | g.7670677C= | CA2245942835 | TP53 | c.1032G= (p.Leu344=) c.636G= (p.Leu212=) c.753G= (p.Leu251=) c.1011G= (p.Leu337=) c.993+2858G= (n.993+2858G=) c.782+3504G= (n.782+3504G=) c.*139G= (n.*139G=) c.*51G= (n.*51G=) c.54-987G= c.915G= (p.Leu305=) c.999G= (p.Leu333=) c.555G= (p.Leu185=) | |
17 | g.7670677C>G | CA000829 | TP53 | c.1032G>C (p.Leu344=) c.636G>C (p.Leu212=) c.753G>C (p.Leu251=) c.1011G>C (p.Leu337=) c.993+2858G>C (n.993+2858G>C) c.782+3504G>C (n.782+3504G>C) c.*139G>C (n.*139G>C) c.*51G>C (n.*51G>C) c.54-987G>C c.915G>C (p.Leu305=) c.999G>C (p.Leu333=) c.555G>C (p.Leu185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7670677C>T | CA350737 | TP53 | c.1032G>A (p.Leu344=) c.636G>A (p.Leu212=) c.753G>A (p.Leu251=) c.1011G>A (p.Leu337=) c.993+2858G>A (n.993+2858G>A) c.782+3504G>A (n.782+3504G>A) c.*139G>A (n.*139G>A) c.*51G>A (n.*51G>A) c.54-987G>A c.915G>A (p.Leu305=) c.999G>A (p.Leu333=) c.555G>A (p.Leu185=) | ClinVar dbSNP gnomAD v4 |
17 | g.7670678A= | CA2245942844 | TP53 | c.1031T= (p.Leu344=) c.635T= (p.Leu212=) c.752T= (p.Leu251=) c.1010T= (p.Leu337=) c.993+2857T= (n.993+2857T=) c.782+3503T= (n.782+3503T=) c.*138T= (n.*138T=) c.*50T= (n.*50T=) c.54-988T= c.914T= (p.Leu305=) c.998T= (p.Leu333=) c.554T= (p.Leu185=) | |
17 | g.7670678A>C | CA397832502 | TP53 | c.1031T>G (p.Leu344Arg) c.635T>G (p.Leu212Arg) c.752T>G (p.Leu251Arg) c.1010T>G (p.Leu337Arg) c.993+2857T>G (n.993+2857T>G) c.782+3503T>G (n.782+3503T>G) c.*138T>G (n.*138T>G) c.*50T>G (n.*50T>G) c.54-988T>G c.914T>G (p.Leu305Arg) c.998T>G (p.Leu333Arg) c.554T>G (p.Leu185Arg) | ClinVar COSMIC COSMIC |
17 | g.7670678A>G | CA000021 | TP53 | c.1031T>C (p.Leu344Pro) c.635T>C (p.Leu212Pro) c.752T>C (p.Leu251Pro) c.1010T>C (p.Leu337Pro) c.993+2857T>C (n.993+2857T>C) c.782+3503T>C (n.782+3503T>C) c.*138T>C (n.*138T>C) c.*50T>C (n.*50T>C) c.54-988T>C c.914T>C (p.Leu305Pro) c.998T>C (p.Leu333Pro) c.554T>C (p.Leu185Pro) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.7670678A>T | CA397832505 | TP53 | c.1031T>A (p.Leu344Gln) c.635T>A (p.Leu212Gln) c.752T>A (p.Leu251Gln) c.1010T>A (p.Leu337Gln) c.993+2857T>A (n.993+2857T>A) c.782+3503T>A (n.782+3503T>A) c.*138T>A (n.*138T>A) c.*50T>A (n.*50T>A) c.54-988T>A c.914T>A (p.Leu305Gln) c.998T>A (p.Leu333Gln) c.554T>A (p.Leu185Gln) | dbSNP |
17 | g.7670678_7670679insCT | CA645587304 | TP53 | c.1030_1031insAG (p.Leu344GlnfsTer2) c.634_635insAG (p.Leu212GlnfsTer2) c.751_752insAG (p.Leu251GlnfsTer2) c.1009_1010insAG (p.Leu337GlnfsTer2) c.993+2856_993+2857insAG (n.993+2856_993+2857insAG) c.782+3502_782+3503insAG (n.782+3502_782+3503insAG) c.*137_*138insAG (n.*137_*138insAG) c.*49_*50insAG (n.*49_*50insAG) c.54-989_54-988insAG c.913_914insAG (p.Leu305GlnfsTer2) c.997_998insAG (p.Leu333GlnfsTer2) c.553_554insAG (p.Leu185GlnfsTer2) | COSMIC COSMIC |
17 | g.7670679G>A | CA497712593 | TP53 | c.1030C>T (p.Leu344=) c.634C>T (p.Leu212=) c.751C>T (p.Leu251=) c.1009C>T (p.Leu337=) c.993+2856C>T (n.993+2856C>T) c.782+3502C>T (n.782+3502C>T) c.*137C>T (n.*137C>T) c.*49C>T (n.*49C>T) c.54-989C>T c.913C>T (p.Leu305=) c.997C>T (p.Leu333=) c.553C>T (p.Leu185=) | ClinVar dbSNP gnomAD v4 |
17 | g.7670679G>C | CA397832512 | TP53 | c.1030C>G (p.Leu344Val) c.634C>G (p.Leu212Val) c.751C>G (p.Leu251Val) c.1009C>G (p.Leu337Val) c.993+2856C>G (n.993+2856C>G) c.782+3502C>G (n.782+3502C>G) c.*137C>G (n.*137C>G) c.*49C>G (n.*49C>G) c.54-989C>G c.913C>G (p.Leu305Val) c.997C>G (p.Leu333Val) c.553C>G (p.Leu185Val) | ClinVar dbSNP gnomAD v4 |
17 | g.7670679G= | CA2245942854 | TP53 | c.1030C= (p.Leu344=) c.634C= (p.Leu212=) c.751C= (p.Leu251=) c.1009C= (p.Leu337=) c.993+2856C= (n.993+2856C=) c.782+3502C= (n.782+3502C=) c.*137C= (n.*137C=) c.*49C= (n.*49C=) c.54-989C= c.913C= (p.Leu305=) c.997C= (p.Leu333=) c.553C= (p.Leu185=) | |
17 | g.7670679G>T | CA397832507 | TP53 | c.1030C>A (p.Leu344Met) c.634C>A (p.Leu212Met) c.751C>A (p.Leu251Met) c.1009C>A (p.Leu337Met) c.993+2856C>A (n.993+2856C>A) c.782+3502C>A (n.782+3502C>A) c.*137C>A (n.*137C>A) c.*49C>A (n.*49C>A) c.54-989C>A c.913C>A (p.Leu305Met) c.997C>A (p.Leu333Met) c.553C>A (p.Leu185Met) | ClinVar |
17 | g.7670680C>A | CA397832518 | TP53 | c.1029G>T (p.Glu343Asp) c.633G>T (p.Glu211Asp) c.750G>T (p.Glu250Asp) c.1008G>T (p.Glu336Asp) c.993+2855G>T (n.993+2855G>T) c.782+3501G>T (n.782+3501G>T) c.*136G>T (n.*136G>T) c.*48G>T (n.*48G>T) c.54-990G>T c.912G>T (p.Glu304Asp) c.996G>T (p.Glu332Asp) c.552G>T (p.Glu184Asp) | |
17 | g.7670680C>G | CA397832519 | TP53 | c.1029G>C (p.Glu343Asp) c.633G>C (p.Glu211Asp) c.750G>C (p.Glu250Asp) c.1008G>C (p.Glu336Asp) c.993+2855G>C (n.993+2855G>C) c.782+3501G>C (n.782+3501G>C) c.*136G>C (n.*136G>C) c.*48G>C (n.*48G>C) c.54-990G>C c.912G>C (p.Glu304Asp) c.996G>C (p.Glu332Asp) c.552G>C (p.Glu184Asp) | ClinVar dbSNP |
17 | g.7670680C>T | CA497712597 | TP53 | c.1029G>A (p.Glu343=) c.633G>A (p.Glu211=) c.750G>A (p.Glu250=) c.1008G>A (p.Glu336=) c.993+2855G>A (n.993+2855G>A) c.782+3501G>A (n.782+3501G>A) c.*136G>A (n.*136G>A) c.*48G>A (n.*48G>A) c.54-990G>A c.912G>A (p.Glu304=) c.996G>A (p.Glu332=) c.552G>A (p.Glu184=) | |
17 | g.7670683_7670684del | CA645587305 | TP53 | c.1028_1029del (p.Glu343AlafsTer3) c.632_633del (p.Glu211AlafsTer3) c.749_750del (p.Glu250AlafsTer3) c.1007_1008del (p.Glu336AlafsTer3) c.993+2854_993+2855del (n.993+2854_993+2855del) c.782+3500_782+3501del (n.782+3500_782+3501del) c.*135_*136del (n.*135_*136del) c.*47_*48del (n.*47_*48del) c.54-991_54-990del c.911_912del (p.Glu304AlafsTer3) c.995_996del (p.Glu332AlafsTer3) c.551_552del (p.Glu184AlafsTer3) | COSMIC COSMIC COSMIC |
17 | g.7670680_7670690delinsCTCTCGGAACA | CA2245942865 | TP53 | c.1019_1029delinsTGTTCCGAGAG (p.Met340=) c.623_633delinsTGTTCCGAGAG (p.Met208=) c.740_750delinsTGTTCCGAGAG (p.Met247=) c.998_1008delinsTGTTCCGAGAG (p.Met333=) c.993+2845_993+2855delinsTGTTCCGAGAG (n.993+2845_993+2855delinsTGTTCCGAGAG) c.782+3491_782+3501delinsTGTTCCGAGAG (n.782+3491_782+3501delinsTGTTCCGAGAG) c.*126_*136delinsTGTTCCGAGAG (n.*126_*136delinsTGTTCCGAGAG) c.*38_*48delinsTGTTCCGAGAG (n.*38_*48delinsTGTTCCGAGAG) c.54-1000_54-990delinsTGTTCCGAGAG c.902_912delinsTGTTCCGAGAG (p.Met301=) c.986_996delinsTGTTCCGAGAG (p.Met329=) c.542_552delinsTGTTCCGAGAG (p.Met181=) | |
17 | g.7670681del | CA2580094851 | TP53 | c.1028del (p.Glu343GlyfsTer2) c.632del (p.Glu211GlyfsTer2) c.749del (p.Glu250GlyfsTer2) c.1007del (p.Glu336GlyfsTer2) c.993+2854del (n.993+2854del) c.782+3500del (n.782+3500del) c.*135del (n.*135del) c.*47del (n.*47del) c.54-991del c.911del (p.Glu304GlyfsTer2) c.995del (p.Glu332GlyfsTer2) c.551del (p.Glu184GlyfsTer2) | ClinVar dbSNP |
17 | g.7670681T>A | CA397832521 | TP53 | c.1028A>T (p.Glu343Val) c.632A>T (p.Glu211Val) c.749A>T (p.Glu250Val) c.1007A>T (p.Glu336Val) c.993+2854A>T (n.993+2854A>T) c.782+3500A>T (n.782+3500A>T) c.*135A>T (n.*135A>T) c.*47A>T (n.*47A>T) c.54-991A>T c.911A>T (p.Glu304Val) c.995A>T (p.Glu332Val) c.551A>T (p.Glu184Val) | dbSNP |
17 | g.7670681T>C | CA397832522 | TP53 | c.1028A>G (p.Glu343Gly) c.632A>G (p.Glu211Gly) c.749A>G (p.Glu250Gly) c.1007A>G (p.Glu336Gly) c.993+2854A>G (n.993+2854A>G) c.782+3500A>G (n.782+3500A>G) c.*135A>G (n.*135A>G) c.*47A>G (n.*47A>G) c.54-991A>G c.911A>G (p.Glu304Gly) c.995A>G (p.Glu332Gly) c.551A>G (p.Glu184Gly) | gnomAD v4 |
17 | g.7670681T>G | CA397832528 | TP53 | c.1028A>C (p.Glu343Ala) c.632A>C (p.Glu211Ala) c.749A>C (p.Glu250Ala) c.1007A>C (p.Glu336Ala) c.993+2854A>C (n.993+2854A>C) c.782+3500A>C (n.782+3500A>C) c.*135A>C (n.*135A>C) c.*47A>C (n.*47A>C) c.54-991A>C c.911A>C (p.Glu304Ala) c.995A>C (p.Glu332Ala) c.551A>C (p.Glu184Ala) | |
17 | g.7670686_7670695del | CA913188761 | TP53 | c.1019_1028del (p.Met340SerfsTer2) c.623_632del (p.Met208SerfsTer2) c.740_749del (p.Met247SerfsTer2) c.998_1007del (p.Met333SerfsTer2) c.993+2845_993+2854del (n.993+2845_993+2854del) c.782+3491_782+3500del (n.782+3491_782+3500del) c.*126_*135del (n.*126_*135del) c.*38_*47del (n.*38_*47del) c.54-1000_54-991del c.902_911del (p.Met301SerfsTer2) c.986_995del (p.Met329SerfsTer2) c.542_551del (p.Met181SerfsTer2) | ClinVar dbSNP |
17 | g.7670682C>A | CA397832533 | TP53 | c.1027G>T (p.Glu343Ter) c.631G>T (p.Glu211Ter) c.748G>T (p.Glu250Ter) c.1006G>T (p.Glu336Ter) c.993+2853G>T (n.993+2853G>T) c.782+3499G>T (n.782+3499G>T) c.*134G>T (n.*134G>T) c.*46G>T (n.*46G>T) c.54-992G>T c.910G>T (p.Glu304Ter) c.994G>T (p.Glu332Ter) c.550G>T (p.Glu184Ter) | dbSNP COSMIC COSMIC |
17 | g.7670682C= | CA2245942873 | TP53 | c.1027G= (p.Glu343=) c.631G= (p.Glu211=) c.748G= (p.Glu250=) c.1006G= (p.Glu336=) c.993+2853G= (n.993+2853G=) c.782+3499G= (n.782+3499G=) c.*134G= (n.*134G=) c.*46G= (n.*46G=) c.54-992G= c.910G= (p.Glu304=) c.994G= (p.Glu332=) c.550G= (p.Glu184=) | |
17 | g.7670682C>G | CA287485739 | TP53 | c.1027G>C (p.Glu343Gln) c.631G>C (p.Glu211Gln) c.748G>C (p.Glu250Gln) c.1006G>C (p.Glu336Gln) c.993+2853G>C (n.993+2853G>C) c.782+3499G>C (n.782+3499G>C) c.*134G>C (n.*134G>C) c.*46G>C (n.*46G>C) c.54-992G>C c.910G>C (p.Glu304Gln) c.994G>C (p.Glu332Gln) c.550G>C (p.Glu184Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7670682C>T | CA397832559 | TP53 | c.1027G>A (p.Glu343Lys) c.631G>A (p.Glu211Lys) c.748G>A (p.Glu250Lys) c.1006G>A (p.Glu336Lys) c.993+2853G>A (n.993+2853G>A) c.782+3499G>A (n.782+3499G>A) c.*134G>A (n.*134G>A) c.*46G>A (n.*46G>A) c.54-992G>A c.910G>A (p.Glu304Lys) c.994G>A (p.Glu332Lys) c.550G>A (p.Glu184Lys) | dbSNP |
17 | g.7670683T>A | CA497712601 | TP53 | c.1026A>T (p.Arg342=) c.630A>T (p.Arg210=) c.747A>T (p.Arg249=) c.1005A>T (p.Arg335=) c.993+2852A>T (n.993+2852A>T) c.782+3498A>T (n.782+3498A>T) c.*133A>T (n.*133A>T) c.*45A>T (n.*45A>T) c.54-993A>T c.909A>T (p.Arg303=) c.993A>T (p.Arg331=) c.549A>T (p.Arg183=) | dbSNP |
17 | g.7670683T>C | CA497712600 | TP53 | c.1026A>G (p.Arg342=) c.630A>G (p.Arg210=) c.747A>G (p.Arg249=) c.1005A>G (p.Arg335=) c.993+2852A>G (n.993+2852A>G) c.782+3498A>G (n.782+3498A>G) c.*133A>G (n.*133A>G) c.*45A>G (n.*45A>G) c.54-993A>G c.909A>G (p.Arg303=) c.993A>G (p.Arg331=) c.549A>G (p.Arg183=) | ClinVar dbSNP |
17 | g.7670683T>G | CA497712599 | TP53 | c.1026A>C (p.Arg342=) c.630A>C (p.Arg210=) c.747A>C (p.Arg249=) c.1005A>C (p.Arg335=) c.993+2852A>C (n.993+2852A>C) c.782+3498A>C (n.782+3498A>C) c.*133A>C (n.*133A>C) c.*45A>C (n.*45A>C) c.54-993A>C c.909A>C (p.Arg303=) c.993A>C (p.Arg331=) c.549A>C (p.Arg183=) | |
17 | g.7670683_7670687del | CA2838032357 | TP53 | c.1022_1026del (p.Phe341Ter) c.626_630del (p.Phe209Ter) c.743_747del (p.Phe248Ter) c.1001_1005del (p.Phe334Ter) c.993+2848_993+2852del (n.993+2848_993+2852del) c.782+3494_782+3498del (n.782+3494_782+3498del) c.*129_*133del (n.*129_*133del) c.*41_*45del (n.*41_*45del) c.54-997_54-993del c.905_909del (p.Phe302Ter) c.989_993del (p.Phe330Ter) c.545_549del (p.Phe182Ter) | |
17 | g.7670684del | CA497712603 | TP53 | c.1025del (p.Arg342GlnfsTer3) c.629del (p.Arg210GlnfsTer3) c.746del (p.Arg249GlnfsTer3) c.1004del (p.Arg335GlnfsTer3) c.993+2851del (n.993+2851del) c.782+3497del (n.782+3497del) c.*132del (n.*132del) c.*44del (n.*44del) c.54-994del c.908del (p.Arg303GlnfsTer3) c.992del (p.Arg331GlnfsTer3) c.548del (p.Arg183GlnfsTer3) | COSMIC |
17 | g.7670684C>A | CA397832566 | TP53 | c.1025G>T (p.Arg342Leu) c.629G>T (p.Arg210Leu) c.746G>T (p.Arg249Leu) c.1004G>T (p.Arg335Leu) c.993+2851G>T (n.993+2851G>T) c.782+3497G>T (n.782+3497G>T) c.*132G>T (n.*132G>T) c.*44G>T (n.*44G>T) c.54-994G>T c.908G>T (p.Arg303Leu) c.992G>T (p.Arg331Leu) c.548G>T (p.Arg183Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.7670684C= | CA2245942882 | TP53 | c.1025G= (p.Arg342=) c.629G= (p.Arg210=) c.746G= (p.Arg249=) c.1004G= (p.Arg335=) c.993+2851G= (n.993+2851G=) c.782+3497G= (n.782+3497G=) c.*132G= (n.*132G=) c.*44G= (n.*44G=) c.54-994G= c.908G= (p.Arg303=) c.992G= (p.Arg331=) c.548G= (p.Arg183=) | |
17 | g.7670684C>G | CA337802 | TP53 | c.1025G>C (p.Arg342Pro) c.629G>C (p.Arg210Pro) c.746G>C (p.Arg249Pro) c.1004G>C (p.Arg335Pro) c.993+2851G>C (n.993+2851G>C) c.782+3497G>C (n.782+3497G>C) c.*132G>C (n.*132G>C) c.*44G>C (n.*44G>C) c.54-994G>C c.908G>C (p.Arg303Pro) c.992G>C (p.Arg331Pro) c.548G>C (p.Arg183Pro) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670684C>T | CA000835 | TP53 | c.1025G>A (p.Arg342Gln) c.629G>A (p.Arg210Gln) c.746G>A (p.Arg249Gln) c.1004G>A (p.Arg335Gln) c.993+2851G>A (n.993+2851G>A) c.782+3497G>A (n.782+3497G>A) c.*132G>A (n.*132G>A) c.*44G>A (n.*44G>A) c.54-994G>A c.908G>A (p.Arg303Gln) c.992G>A (p.Arg331Gln) c.548G>A (p.Arg183Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.7670684_7670685del | CA2697559388 | TP53 | c.1024_1025del (p.Glu343AlafsTer3) c.628_629del (p.Glu211AlafsTer3) c.745_746del (p.Glu250AlafsTer3) c.1003_1004del (p.Glu336AlafsTer3) c.993+2850_993+2851del (n.993+2850_993+2851del) c.782+3496_782+3497del (n.782+3496_782+3497del) c.*131_*132del (n.*131_*132del) c.*43_*44del (n.*43_*44del) c.54-995_54-994del c.907_908del (p.Glu304AlafsTer3) c.991_992del (p.Glu332AlafsTer3) c.547_548del (p.Glu184AlafsTer3) | ClinVar |
17 | g.7670684_7670685delinsAA | CA915949512 | TP53 | c.1024_1025delinsTT (p.Arg342Leu) c.628_629delinsTT (p.Arg210Leu) c.745_746delinsTT (p.Arg249Leu) c.1003_1004delinsTT (p.Arg335Leu) c.993+2850_993+2851delinsTT (n.993+2850_993+2851delinsTT) c.782+3496_782+3497delinsTT (n.782+3496_782+3497delinsTT) c.*131_*132delinsTT (n.*131_*132delinsTT) c.*43_*44delinsTT (n.*43_*44delinsTT) c.54-995_54-994delinsTT c.907_908delinsTT (p.Arg303Leu) c.991_992delinsTT (p.Arg331Leu) c.547_548delinsTT (p.Arg183Leu) | ClinVar dbSNP |
17 | g.7670684_7670685delinsCG | CA2245942885 | TP53 | c.1024_1025delinsCG (p.Arg342=) c.628_629delinsCG (p.Arg210=) c.745_746delinsCG (p.Arg249=) c.1003_1004delinsCG (p.Arg335=) c.993+2850_993+2851delinsCG (n.993+2850_993+2851delinsCG) c.782+3496_782+3497delinsCG (n.782+3496_782+3497delinsCG) c.*131_*132delinsCG (n.*131_*132delinsCG) c.*43_*44delinsCG (n.*43_*44delinsCG) c.54-995_54-994delinsCG c.907_908delinsCG (p.Arg303=) c.991_992delinsCG (p.Arg331=) c.547_548delinsCG (p.Arg183=) | |
17 | g.7670684_7670686delinsCGG | CA2245942886 | TP53 | c.1023_1025delinsCCG (p.Phe341=) c.627_629delinsCCG (p.Phe209=) c.744_746delinsCCG (p.Phe248=) c.1002_1004delinsCCG (p.Phe334=) c.993+2849_993+2851delinsCCG (n.993+2849_993+2851delinsCCG) c.782+3495_782+3497delinsCCG (n.782+3495_782+3497delinsCCG) c.*130_*132delinsCCG (n.*130_*132delinsCCG) c.*42_*44delinsCCG (n.*42_*44delinsCCG) c.54-996_54-994delinsCCG c.906_908delinsCCG (p.Phe302=) c.990_992delinsCCG (p.Phe330=) c.546_548delinsCCG (p.Phe182=) | |
17 | g.7670685G>A | CA000019 | TP53 | c.1024C>T (p.Arg342Ter) c.628C>T (p.Arg210Ter) c.745C>T (p.Arg249Ter) c.1003C>T (p.Arg335Ter) c.993+2850C>T (n.993+2850C>T) c.782+3496C>T (n.782+3496C>T) c.*131C>T (n.*131C>T) c.*43C>T (n.*43C>T) c.54-995C>T c.907C>T (p.Arg303Ter) c.991C>T (p.Arg331Ter) c.547C>T (p.Arg183Ter) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670685G>C | CA397832599 | TP53 | c.1024C>G (p.Arg342Gly) c.628C>G (p.Arg210Gly) c.745C>G (p.Arg249Gly) c.1003C>G (p.Arg335Gly) c.993+2850C>G (n.993+2850C>G) c.782+3496C>G (n.782+3496C>G) c.*131C>G (n.*131C>G) c.*43C>G (n.*43C>G) c.54-995C>G c.907C>G (p.Arg303Gly) c.991C>G (p.Arg331Gly) c.547C>G (p.Arg183Gly) | ClinVar dbSNP |
17 | g.7670685G= | CA2245942905 | TP53 | c.1024C= (p.Arg342=) c.628C= (p.Arg210=) c.745C= (p.Arg249=) c.1003C= (p.Arg335=) c.993+2850C= (n.993+2850C=) c.782+3496C= (n.782+3496C=) c.*131C= (n.*131C=) c.*43C= (n.*43C=) c.54-995C= c.907C= (p.Arg303=) c.991C= (p.Arg331=) c.547C= (p.Arg183=) | |
17 | g.7670685G>T | CA497712604 | TP53 | c.1024C>A (p.Arg342=) c.628C>A (p.Arg210=) c.745C>A (p.Arg249=) c.1003C>A (p.Arg335=) c.993+2850C>A (n.993+2850C>A) c.782+3496C>A (n.782+3496C>A) c.*131C>A (n.*131C>A) c.*43C>A (n.*43C>A) c.54-995C>A c.907C>A (p.Arg303=) c.991C>A (p.Arg331=) c.547C>A (p.Arg183=) | dbSNP |
17 | g.7670685_7670686delinsA | CA919785603 | TP53 | c.1023_1024delinsT (p.Arg342GlufsTer3) c.627_628delinsT (p.Arg210GlufsTer3) c.744_745delinsT (p.Arg249GlufsTer3) c.1002_1003delinsT (p.Arg335GlufsTer3) c.993+2849_993+2850delinsT (n.993+2849_993+2850delinsT) c.782+3495_782+3496delinsT (n.782+3495_782+3496delinsT) c.*130_*131delinsT (n.*130_*131delinsT) c.*42_*43delinsT (n.*42_*43delinsT) c.54-996_54-995delinsT c.906_907delinsT (p.Arg303GlufsTer3) c.990_991delinsT (p.Arg331GlufsTer3) c.546_547delinsT (p.Arg183GlufsTer3) | dbSNP |
17 | g.7670685_7670686delinsAA | CA645587307 | TP53 | c.1023_1024delinsTT (p.Phe342Ter) c.627_628delinsTT (p.Phe210Ter) c.744_745delinsTT (p.Phe249Ter) c.1002_1003delinsTT (p.Phe335Ter) c.993+2849_993+2850delinsTT (n.993+2849_993+2850delinsTT) c.782+3495_782+3496delinsTT (n.782+3495_782+3496delinsTT) c.*130_*131delinsTT (n.*130_*131delinsTT) c.*42_*43delinsTT (n.*42_*43delinsTT) c.54-996_54-995delinsTT c.906_907delinsTT (p.Phe303Ter) c.990_991delinsTT (p.Phe331Ter) c.546_547delinsTT (p.Phe183Ter) | COSMIC COSMIC |
17 | g.7670686del | CA497712605 | TP53 | c.1024del (p.Arg342GlufsTer3) c.628del (p.Arg210GlufsTer3) c.745del (p.Arg249GlufsTer3) c.1003del (p.Arg335GlufsTer3) c.993+2850del (n.993+2850del) c.782+3496del (n.782+3496del) c.*131del (n.*131del) c.*43del (n.*43del) c.54-995del c.907del (p.Arg303GlufsTer3) c.991del (p.Arg331GlufsTer3) c.547del (p.Arg183GlufsTer3) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
17 | g.7670685_7670686insA | CA645587309 | TP53 | c.1023_1024insT (p.Arg342SerfsTer5) c.627_628insT (p.Arg210SerfsTer5) c.744_745insT (p.Arg249SerfsTer5) c.1002_1003insT (p.Arg335SerfsTer5) c.993+2849_993+2850insT (n.993+2849_993+2850insT) c.782+3495_782+3496insT (n.782+3495_782+3496insT) c.*130_*131insT (n.*130_*131insT) c.*42_*43insT (n.*42_*43insT) c.54-996_54-995insT c.906_907insT (p.Arg303SerfsTer5) c.990_991insT (p.Arg331SerfsTer5) c.546_547insT (p.Arg183SerfsTer5) | COSMIC |
17 | g.7670685_7670686insTTCAGCTCTC | CA645587310 | TP53 | c.1023_1024insGAGAGCTGAA (p.Arg342GlufsTer3) c.627_628insGAGAGCTGAA (p.Arg210GlufsTer3) c.744_745insGAGAGCTGAA (p.Arg249GlufsTer3) c.1002_1003insGAGAGCTGAA (p.Arg335GlufsTer3) c.993+2849_993+2850insGAGAGCTGAA (n.993+2849_993+2850insGAGAGCTGAA) c.782+3495_782+3496insGAGAGCTGAA (n.782+3495_782+3496insGAGAGCTGAA) c.*130_*131insGAGAGCTGAA (n.*130_*131insGAGAGCTGAA) c.*42_*43insGAGAGCTGAA (n.*42_*43insGAGAGCTGAA) c.54-996_54-995insGAGAGCTGAA c.906_907insGAGAGCTGAA (p.Arg303GlufsTer3) c.990_991insGAGAGCTGAA (p.Arg331GlufsTer3) c.546_547insGAGAGCTGAA (p.Arg183GlufsTer3) | COSMIC COSMIC |
17 | g.7670686G>A | CA349981 | TP53 | c.1023C>T (p.Phe341=) c.627C>T (p.Phe209=) c.744C>T (p.Phe248=) c.1002C>T (p.Phe334=) c.993+2849C>T (n.993+2849C>T) c.782+3495C>T (n.782+3495C>T) c.*130C>T (n.*130C>T) c.*42C>T (n.*42C>T) c.54-996C>T c.906C>T (p.Phe302=) c.990C>T (p.Phe330=) c.546C>T (p.Phe182=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7670686G>C | CA397832612 | TP53 | c.1023C>G (p.Phe341Leu) c.627C>G (p.Phe209Leu) c.744C>G (p.Phe248Leu) c.1002C>G (p.Phe334Leu) c.993+2849C>G (n.993+2849C>G) c.782+3495C>G (n.782+3495C>G) c.*130C>G (n.*130C>G) c.*42C>G (n.*42C>G) c.54-996C>G c.906C>G (p.Phe302Leu) c.990C>G (p.Phe330Leu) c.546C>G (p.Phe182Leu) | ClinVar dbSNP |
17 | g.7670686G= | CA2245942920 | TP53 | c.1023C= (p.Phe341=) c.627C= (p.Phe209=) c.744C= (p.Phe248=) c.1002C= (p.Phe334=) c.993+2849C= (n.993+2849C=) c.782+3495C= (n.782+3495C=) c.*130C= (n.*130C=) c.*42C= (n.*42C=) c.54-996C= c.906C= (p.Phe302=) c.990C= (p.Phe330=) c.546C= (p.Phe182=) | |
17 | g.7670686G>T | CA397832608 | TP53 | c.1023C>A (p.Phe341Leu) c.627C>A (p.Phe209Leu) c.744C>A (p.Phe248Leu) c.1002C>A (p.Phe334Leu) c.993+2849C>A (n.993+2849C>A) c.782+3495C>A (n.782+3495C>A) c.*130C>A (n.*130C>A) c.*42C>A (n.*42C>A) c.54-996C>A c.906C>A (p.Phe302Leu) c.990C>A (p.Phe330Leu) c.546C>A (p.Phe182Leu) | ClinVar dbSNP COSMIC |
17 | g.7670686_7670687del | CA645587308 | TP53 | c.1022_1023del (p.Phe341SerfsTer5) c.626_627del (p.Phe209SerfsTer5) c.743_744del (p.Phe248SerfsTer5) c.1001_1002del (p.Phe334SerfsTer5) c.993+2848_993+2849del (n.993+2848_993+2849del) c.782+3494_782+3495del (n.782+3494_782+3495del) c.*129_*130del (n.*129_*130del) c.*41_*42del (n.*41_*42del) c.54-997_54-996del c.905_906del (p.Phe302SerfsTer5) c.989_990del (p.Phe330SerfsTer5) c.545_546del (p.Phe182SerfsTer5) | COSMIC COSMIC |
17 | g.7670687A>C | CA397832615 | TP53 | c.1022T>G (p.Phe341Cys) c.626T>G (p.Phe209Cys) c.743T>G (p.Phe248Cys) c.1001T>G (p.Phe334Cys) c.993+2848T>G (n.993+2848T>G) c.782+3494T>G (n.782+3494T>G) c.*129T>G (n.*129T>G) c.*41T>G (n.*41T>G) c.54-997T>G c.905T>G (p.Phe302Cys) c.989T>G (p.Phe330Cys) c.545T>G (p.Phe182Cys) | COSMIC |
17 | g.7670687A>G | CA397832622 | TP53 | c.1022T>C (p.Phe341Ser) c.626T>C (p.Phe209Ser) c.743T>C (p.Phe248Ser) c.1001T>C (p.Phe334Ser) c.993+2848T>C (n.993+2848T>C) c.782+3494T>C (n.782+3494T>C) c.*129T>C (n.*129T>C) c.*41T>C (n.*41T>C) c.54-997T>C c.905T>C (p.Phe302Ser) c.989T>C (p.Phe330Ser) c.545T>C (p.Phe182Ser) | COSMIC COSMIC |
17 | g.7670687A>T | CA397832617 | TP53 | c.1022T>A (p.Phe341Tyr) c.626T>A (p.Phe209Tyr) c.743T>A (p.Phe248Tyr) c.1001T>A (p.Phe334Tyr) c.993+2848T>A (n.993+2848T>A) c.782+3494T>A (n.782+3494T>A) c.*129T>A (n.*129T>A) c.*41T>A (n.*41T>A) c.54-997T>A c.905T>A (p.Phe302Tyr) c.989T>A (p.Phe330Tyr) c.545T>A (p.Phe182Tyr) | dbSNP |
17 | g.7670687_7670688delinsAA | CA2245942926 | TP53 | c.1021_1022delinsTT (p.Phe341=) c.625_626delinsTT (p.Phe209=) c.742_743delinsTT (p.Phe248=) c.1000_1001delinsTT (p.Phe334=) c.993+2847_993+2848delinsTT (n.993+2847_993+2848delinsTT) c.782+3493_782+3494delinsTT (n.782+3493_782+3494delinsTT) c.*128_*129delinsTT (n.*128_*129delinsTT) c.*40_*41delinsTT (n.*40_*41delinsTT) c.54-998_54-997delinsTT c.904_905delinsTT (p.Phe302=) c.988_989delinsTT (p.Phe330=) c.544_545delinsTT (p.Phe182=) | |
17 | g.7670687_7670688delinsCT | CA2580094859 | TP53 | c.1021_1022delinsAG (p.Phe341Ser) c.625_626delinsAG (p.Phe209Ser) c.742_743delinsAG (p.Phe248Ser) c.1000_1001delinsAG (p.Phe334Ser) c.993+2847_993+2848delinsAG (n.993+2847_993+2848delinsAG) c.782+3493_782+3494delinsAG (n.782+3493_782+3494delinsAG) c.*128_*129delinsAG (n.*128_*129delinsAG) c.*40_*41delinsAG (n.*40_*41delinsAG) c.54-998_54-997delinsAG c.904_905delinsAG (p.Phe302Ser) c.988_989delinsAG (p.Phe330Ser) c.544_545delinsAG (p.Phe182Ser) | ClinVar |
17 | g.7670688del | CA497712606 | TP53 | c.1022del (p.Phe341SerfsTer4) c.626del (p.Phe209SerfsTer4) c.743del (p.Phe248SerfsTer4) c.1001del (p.Phe334SerfsTer4) c.993+2848del (n.993+2848del) c.782+3494del (n.782+3494del) c.*129del (n.*129del) c.*41del (n.*41del) c.54-997del c.905del (p.Phe302SerfsTer4) c.989del (p.Phe330SerfsTer4) c.545del (p.Phe182SerfsTer4) | ClinVar COSMIC |
17 | g.7670687_7670694del | CA645587311 | TP53 | c.1015_1022del (p.Glu339ProfsTer5) c.619_626del (p.Glu207ProfsTer5) c.736_743del (p.Glu246ProfsTer5) c.994_1001del (p.Glu332ProfsTer5) c.993+2841_993+2848del (n.993+2841_993+2848del) c.782+3487_782+3494del (n.782+3487_782+3494del) c.*122_*129del (n.*122_*129del) c.*34_*41del (n.*34_*41del) c.54-1004_54-997del c.898_905del (p.Glu300ProfsTer5) c.982_989del (p.Glu328ProfsTer5) c.538_545del (p.Glu180ProfsTer5) | COSMIC COSMIC |
17 | g.7670688A>C | CA397832624 | TP53 | c.1021T>G (p.Phe341Val) c.625T>G (p.Phe209Val) c.742T>G (p.Phe248Val) c.1000T>G (p.Phe334Val) c.993+2847T>G (n.993+2847T>G) c.782+3493T>G (n.782+3493T>G) c.*128T>G (n.*128T>G) c.*40T>G (n.*40T>G) c.54-998T>G c.904T>G (p.Phe302Val) c.988T>G (p.Phe330Val) c.544T>G (p.Phe182Val) | |
17 | g.7670688A>G | CA397832628 | TP53 | c.1021T>C (p.Phe341Leu) c.625T>C (p.Phe209Leu) c.742T>C (p.Phe248Leu) c.1000T>C (p.Phe334Leu) c.993+2847T>C (n.993+2847T>C) c.782+3493T>C (n.782+3493T>C) c.*128T>C (n.*128T>C) c.*40T>C (n.*40T>C) c.54-998T>C c.904T>C (p.Phe302Leu) c.988T>C (p.Phe330Leu) c.544T>C (p.Phe182Leu) | |
17 | g.7670688A>T | CA397832636 | TP53 | c.1021T>A (p.Phe341Ile) c.625T>A (p.Phe209Ile) c.742T>A (p.Phe248Ile) c.1000T>A (p.Phe334Ile) c.993+2847T>A (n.993+2847T>A) c.782+3493T>A (n.782+3493T>A) c.*128T>A (n.*128T>A) c.*40T>A (n.*40T>A) c.54-998T>A c.904T>A (p.Phe302Ile) c.988T>A (p.Phe330Ile) c.544T>A (p.Phe182Ile) | ClinVar dbSNP |
17 | g.7670688delinsTTC | CA1139665113 | TP53 | c.1021delinsGAA (p.Phe341GlufsTer5) c.625delinsGAA (p.Phe209GlufsTer5) c.742delinsGAA (p.Phe248GlufsTer5) c.1000delinsGAA (p.Phe334GlufsTer5) c.993+2847delinsGAA (n.993+2847delinsGAA) c.782+3493delinsGAA (n.782+3493delinsGAA) c.*128delinsGAA (n.*128delinsGAA) c.*40delinsGAA (n.*40delinsGAA) c.54-998delinsGAA c.904delinsGAA (p.Phe302GlufsTer5) c.988delinsGAA (p.Phe330GlufsTer5) c.544delinsGAA (p.Phe182GlufsTer5) | ClinVar dbSNP |
17 | g.7670688_7670694dup | CA645587313 | TP53 | c.1015_1021dup (p.Phe341Ter) c.619_625dup (p.Phe209Ter) c.736_742dup (p.Phe248Ter) c.994_1000dup (p.Phe334Ter) c.993+2841_993+2847dup (n.993+2841_993+2847dup) c.782+3487_782+3493dup (n.782+3487_782+3493dup) c.*122_*128dup (n.*122_*128dup) c.*34_*40dup (n.*34_*40dup) c.54-1004_54-998dup c.898_904dup (p.Phe302Ter) c.982_988dup (p.Phe330Ter) c.538_544dup (p.Phe182Ter) | COSMIC COSMIC |
17 | g.7670689C>A | CA397832641 | TP53 | c.1020G>T (p.Met340Ile) c.624G>T (p.Met208Ile) c.741G>T (p.Met247Ile) c.999G>T (p.Met333Ile) c.993+2846G>T (n.993+2846G>T) c.782+3492G>T (n.782+3492G>T) c.*127G>T (n.*127G>T) c.*39G>T (n.*39G>T) c.54-999G>T c.903G>T (p.Met301Ile) c.987G>T (p.Met329Ile) c.543G>T (p.Met181Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7670689C= | CA2245942934 | TP53 | c.1020G= (p.Met340=) c.624G= (p.Met208=) c.741G= (p.Met247=) c.999G= (p.Met333=) c.993+2846G= (n.993+2846G=) c.782+3492G= (n.782+3492G=) c.*127G= (n.*127G=) c.*39G= (n.*39G=) c.54-999G= c.903G= (p.Met301=) c.987G= (p.Met329=) c.543G= (p.Met181=) | |
17 | g.7670689C>G | CA397832643 | TP53 | c.1020G>C (p.Met340Ile) c.624G>C (p.Met208Ile) c.741G>C (p.Met247Ile) c.999G>C (p.Met333Ile) c.993+2846G>C (n.993+2846G>C) c.782+3492G>C (n.782+3492G>C) c.*127G>C (n.*127G>C) c.*39G>C (n.*39G>C) c.54-999G>C c.903G>C (p.Met301Ile) c.987G>C (p.Met329Ile) c.543G>C (p.Met181Ile) | dbSNP |
17 | g.7670689C>T | CA397832656 | TP53 | c.1020G>A (p.Met340Ile) c.624G>A (p.Met208Ile) c.741G>A (p.Met247Ile) c.999G>A (p.Met333Ile) c.993+2846G>A (n.993+2846G>A) c.782+3492G>A (n.782+3492G>A) c.*127G>A (n.*127G>A) c.*39G>A (n.*39G>A) c.54-999G>A c.903G>A (p.Met301Ile) c.987G>A (p.Met329Ile) c.543G>A (p.Met181Ile) | ClinVar dbSNP COSMIC |
17 | g.7670689_7670709del | CA645587314 | TP53 | c.1000_1020del (p.Gly334_Met340del) c.604_624del (p.Gly202_Met208del) c.721_741del (p.Gly241_Met247del) c.979_999del (p.Gly327_Met333del) c.993+2826_993+2846del (n.993+2826_993+2846del) c.782+3472_782+3492del (n.782+3472_782+3492del) c.*107_*127del (n.*107_*127del) c.*19_*39del (n.*19_*39del) c.54-1019_54-999del c.883_903del (p.Gly295_Met301del) c.967_987del (p.Gly323_Met329del) c.523_543del (p.Gly175_Met181del) | COSMIC COSMIC |
17 | g.7670690A= | CA2245942943 | TP53 | c.1019T= (p.Met340=) c.623T= (p.Met208=) c.740T= (p.Met247=) c.998T= (p.Met333=) c.993+2845T= (n.993+2845T=) c.782+3491T= (n.782+3491T=) c.*126T= (n.*126T=) c.*38T= (n.*38T=) c.54-1000T= c.902T= (p.Met301=) c.986T= (p.Met329=) c.542T= (p.Met181=) | |
17 | g.7670690A>C | CA397832661 | TP53 | c.1019T>G (p.Met340Arg) c.623T>G (p.Met208Arg) c.740T>G (p.Met247Arg) c.998T>G (p.Met333Arg) c.993+2845T>G (n.993+2845T>G) c.782+3491T>G (n.782+3491T>G) c.*126T>G (n.*126T>G) c.*38T>G (n.*38T>G) c.54-1000T>G c.902T>G (p.Met301Arg) c.986T>G (p.Met329Arg) c.542T>G (p.Met181Arg) | |
17 | g.7670690A>G | CA397832662 | TP53 | c.1019T>C (p.Met340Thr) c.623T>C (p.Met208Thr) c.740T>C (p.Met247Thr) c.998T>C (p.Met333Thr) c.993+2845T>C (n.993+2845T>C) c.782+3491T>C (n.782+3491T>C) c.*126T>C (n.*126T>C) c.*38T>C (n.*38T>C) c.54-1000T>C c.902T>C (p.Met301Thr) c.986T>C (p.Met329Thr) c.542T>C (p.Met181Thr) | |
17 | g.7670690A>T | CA397832663 | TP53 | c.1019T>A (p.Met340Lys) c.623T>A (p.Met208Lys) c.740T>A (p.Met247Lys) c.998T>A (p.Met333Lys) c.993+2845T>A (n.993+2845T>A) c.782+3491T>A (n.782+3491T>A) c.*126T>A (n.*126T>A) c.*38T>A (n.*38T>A) c.54-1000T>A c.902T>A (p.Met301Lys) c.986T>A (p.Met329Lys) c.542T>A (p.Met181Lys) | ClinVar dbSNP |
17 | g.7670690_7670691delinsAT | CA2245942945 | TP53 | c.1018_1019delinsAT (p.Met340=) c.622_623delinsAT (p.Met208=) c.739_740delinsAT (p.Met247=) c.997_998delinsAT (p.Met333=) c.993+2844_993+2845delinsAT (n.993+2844_993+2845delinsAT) c.782+3490_782+3491delinsAT (n.782+3490_782+3491delinsAT) c.*125_*126delinsAT (n.*125_*126delinsAT) c.*37_*38delinsAT (n.*37_*38delinsAT) c.54-1001_54-1000delinsAT c.901_902delinsAT (p.Met301=) c.985_986delinsAT (p.Met329=) c.541_542delinsAT (p.Met181=) | |
17 | g.7670691del | CA645369695 | TP53 | c.1018del (p.Met340CysfsTer5) c.622del (p.Met208CysfsTer5) c.739del (p.Met247CysfsTer5) c.997del (p.Met333CysfsTer5) c.993+2844del (n.993+2844del) c.782+3490del (n.782+3490del) c.*125del (n.*125del) c.*37del (n.*37del) c.54-1001del c.901del (p.Met301CysfsTer5) c.985del (p.Met329CysfsTer5) c.541del (p.Met181CysfsTer5) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7670691T>A | CA397832664 | TP53 | c.1018A>T (p.Met340Leu) c.622A>T (p.Met208Leu) c.739A>T (p.Met247Leu) c.997A>T (p.Met333Leu) c.993+2844A>T (n.993+2844A>T) c.782+3490A>T (n.782+3490A>T) c.*125A>T (n.*125A>T) c.*37A>T (n.*37A>T) c.54-1001A>T c.901A>T (p.Met301Leu) c.985A>T (p.Met329Leu) c.541A>T (p.Met181Leu) | dbSNP |
17 | g.7670691T>C | CA397832665 | TP53 | c.1018A>G (p.Met340Val) c.622A>G (p.Met208Val) c.739A>G (p.Met247Val) c.997A>G (p.Met333Val) c.993+2844A>G (n.993+2844A>G) c.782+3490A>G (n.782+3490A>G) c.*125A>G (n.*125A>G) c.*37A>G (n.*37A>G) c.54-1001A>G c.901A>G (p.Met301Val) c.985A>G (p.Met329Val) c.541A>G (p.Met181Val) | dbSNP COSMIC |
17 | g.7670691T>G | CA397832666 | TP53 | c.1018A>C (p.Met340Leu) c.622A>C (p.Met208Leu) c.739A>C (p.Met247Leu) c.997A>C (p.Met333Leu) c.993+2844A>C (n.993+2844A>C) c.782+3490A>C (n.782+3490A>C) c.*125A>C (n.*125A>C) c.*37A>C (n.*37A>C) c.54-1001A>C c.901A>C (p.Met301Leu) c.985A>C (p.Met329Leu) c.541A>C (p.Met181Leu) | |
17 | g.7670691_7670693del | CA645587315 | TP53 | c.1016_1018del (p.Glu339_Met340delinsVal) c.620_622del (p.Glu207_Met208delinsVal) c.737_739del (p.Glu246_Met247delinsVal) c.995_997del (p.Glu332_Met333delinsVal) c.993+2842_993+2844del (n.993+2842_993+2844del) c.782+3488_782+3490del (n.782+3488_782+3490del) c.*123_*125del (n.*123_*125del) c.*35_*37del (n.*35_*37del) c.54-1003_54-1001del c.899_901del (p.Glu300_Met301delinsVal) c.983_985del (p.Glu328_Met329delinsVal) c.539_541del (p.Glu180_Met181delinsVal) | COSMIC |
17 | g.7670691_7670695dup | CA645587317 | TP53 | c.1014_1018dup (p.Met340ThrfsTer7) c.618_622dup (p.Met208ThrfsTer7) c.735_739dup (p.Met247ThrfsTer7) c.993_997dup (p.Met333ThrfsTer7) c.993+2840_993+2844dup (n.993+2840_993+2844dup) c.782+3486_782+3490dup (n.782+3486_782+3490dup) c.*121_*125dup (n.*121_*125dup) c.*33_*37dup (n.*33_*37dup) c.54-1005_54-1001dup c.897_901dup (p.Met301ThrfsTer7) c.981_985dup (p.Met329ThrfsTer7) c.537_541dup (p.Met181ThrfsTer7) | COSMIC |
17 | g.7670691_7670699del | CA645587316 | TP53 | c.1010_1018del (p.Arg337_Met340delinsLeu) c.614_622del (p.Arg205_Met208delinsLeu) c.731_739del (p.Arg244_Met247delinsLeu) c.989_997del (p.Arg330_Met333delinsLeu) c.993+2836_993+2844del (n.993+2836_993+2844del) c.782+3482_782+3490del (n.782+3482_782+3490del) c.*117_*125del (n.*117_*125del) c.*29_*37del (n.*29_*37del) c.54-1009_54-1001del c.893_901del (p.Arg298_Met301delinsLeu) c.977_985del (p.Arg326_Met329delinsLeu) c.533_541del (p.Arg178_Met181delinsLeu) | COSMIC COSMIC |
17 | g.7670692del | CA645587318 | TP53 | c.1017del (p.Met340CysfsTer5) c.621del (p.Met208CysfsTer5) c.738del (p.Met247CysfsTer5) c.996del (p.Met333CysfsTer5) c.993+2843del (n.993+2843del) c.782+3489del (n.782+3489del) c.*124del (n.*124del) c.*36del (n.*36del) c.54-1002del c.900del (p.Met301CysfsTer5) c.984del (p.Met329CysfsTer5) c.540del (p.Met181CysfsTer5) | COSMIC COSMIC |
17 | g.7670692C>A | CA397832670 | TP53 | c.1017G>T (p.Glu339Asp) c.621G>T (p.Glu207Asp) c.738G>T (p.Glu246Asp) c.996G>T (p.Glu332Asp) c.993+2843G>T (n.993+2843G>T) c.782+3489G>T (n.782+3489G>T) c.*124G>T (n.*124G>T) c.*36G>T (n.*36G>T) c.54-1002G>T c.900G>T (p.Glu300Asp) c.984G>T (p.Glu328Asp) c.540G>T (p.Glu180Asp) | |
17 | g.7670692C>G | CA397832668 | TP53 | c.1017G>C (p.Glu339Asp) c.621G>C (p.Glu207Asp) c.738G>C (p.Glu246Asp) c.996G>C (p.Glu332Asp) c.993+2843G>C (n.993+2843G>C) c.782+3489G>C (n.782+3489G>C) c.*124G>C (n.*124G>C) c.*36G>C (n.*36G>C) c.54-1002G>C c.900G>C (p.Glu300Asp) c.984G>C (p.Glu328Asp) c.540G>C (p.Glu180Asp) | dbSNP |
17 | g.7670692C>T | CA497712607 | TP53 | c.1017G>A (p.Glu339=) c.621G>A (p.Glu207=) c.738G>A (p.Glu246=) c.996G>A (p.Glu332=) c.993+2843G>A (n.993+2843G>A) c.782+3489G>A (n.782+3489G>A) c.*124G>A (n.*124G>A) c.*36G>A (n.*36G>A) c.54-1002G>A c.900G>A (p.Glu300=) c.984G>A (p.Glu328=) c.540G>A (p.Glu180=) | gnomAD v4 |
17 | g.7670692dup | CA645587319 | TP53 | c.1017dup (p.Met340AspfsTer7) c.621dup (p.Met208AspfsTer7) c.738dup (p.Met247AspfsTer7) c.996dup (p.Met333AspfsTer7) c.993+2843dup (n.993+2843dup) c.782+3489dup (n.782+3489dup) c.*124dup (n.*124dup) c.*36dup (n.*36dup) c.54-1002dup c.900dup (p.Met301AspfsTer7) c.984dup (p.Met329AspfsTer7) c.540dup (p.Met181AspfsTer7) | COSMIC COSMIC |
17 | g.7670692_7670695del | CA645587320 | TP53 | c.1014_1017del (p.Phe338LeufsTer6) c.618_621del (p.Phe206LeufsTer6) c.735_738del (p.Phe245LeufsTer6) c.993_996del (p.Phe331LeufsTer6) c.993+2840_993+2843del (n.993+2840_993+2843del) c.782+3486_782+3489del (n.782+3486_782+3489del) c.*121_*124del (n.*121_*124del) c.*33_*36del (n.*33_*36del) c.54-1005_54-1002del c.897_900del (p.Phe299LeufsTer6) c.981_984del (p.Phe327LeufsTer6) c.537_540del (p.Phe179LeufsTer6) | COSMIC |
17 | g.7670693T>A | CA397832671 | TP53 | c.1016A>T (p.Glu339Val) c.620A>T (p.Glu207Val) c.737A>T (p.Glu246Val) c.995A>T (p.Glu332Val) c.993+2842A>T (n.993+2842A>T) c.782+3488A>T (n.782+3488A>T) c.*123A>T (n.*123A>T) c.*35A>T (n.*35A>T) c.54-1003A>T c.899A>T (p.Glu300Val) c.983A>T (p.Glu328Val) c.539A>T (p.Glu180Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7670693T>C | CA397832675 | TP53 | c.1016A>G (p.Glu339Gly) c.620A>G (p.Glu207Gly) c.737A>G (p.Glu246Gly) c.995A>G (p.Glu332Gly) c.993+2842A>G (n.993+2842A>G) c.782+3488A>G (n.782+3488A>G) c.*123A>G (n.*123A>G) c.*35A>G (n.*35A>G) c.54-1003A>G c.899A>G (p.Glu300Gly) c.983A>G (p.Glu328Gly) c.539A>G (p.Glu180Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.7670693T>G | CA397832681 | TP53 | c.1016A>C (p.Glu339Ala) c.620A>C (p.Glu207Ala) c.737A>C (p.Glu246Ala) c.995A>C (p.Glu332Ala) c.993+2842A>C (n.993+2842A>C) c.782+3488A>C (n.782+3488A>C) c.*123A>C (n.*123A>C) c.*35A>C (n.*35A>C) c.54-1003A>C c.899A>C (p.Glu300Ala) c.983A>C (p.Glu328Ala) c.539A>C (p.Glu180Ala) | |
17 | g.7670693T= | CA2245942959 | TP53 | c.1016A= (p.Glu339=) c.620A= (p.Glu207=) c.737A= (p.Glu246=) c.995A= (p.Glu332=) c.993+2842A= (n.993+2842A=) c.782+3488A= (n.782+3488A=) c.*123A= (n.*123A=) c.*35A= (n.*35A=) c.54-1003A= c.899A= (p.Glu300=) c.983A= (p.Glu328=) c.539A= (p.Glu180=) | |
17 | g.7670693_7670695del | CA645587321 | TP53 | c.1014_1016del (p.Phe338_Glu339delinsLeu) c.618_620del (p.Phe206_Glu207delinsLeu) c.735_737del (p.Phe245_Glu246delinsLeu) c.993_995del (p.Phe331_Glu332delinsLeu) c.993+2840_993+2842del (n.993+2840_993+2842del) c.782+3486_782+3488del (n.782+3486_782+3488del) c.*121_*123del (n.*121_*123del) c.*33_*35del (n.*33_*35del) c.54-1005_54-1003del c.897_899del (p.Phe299_Glu300delinsLeu) c.981_983del (p.Phe327_Glu328delinsLeu) c.537_539del (p.Phe179_Glu180delinsLeu) | COSMIC |