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.7669597_7669599del | CA2635879081 | TP53 | c.*13_*15del (n.*13_*15del) c.994-3352_994-3350del (n.994-3352_994-3350del) c.782+4585_782+4587del (n.782+4585_782+4587del) c.*302_*304del (n.*302_*304del) c.*214_*216del (n.*214_*216del) c.148_150del c.983+1013_983+1015del (n.983+1013_983+1015del) | gnomAD v4 |
17 | g.7669595A>G | CA2733124287 | TP53 | c.*14T>C (n.*14T>C) c.994-3351T>C (n.994-3351T>C) c.782+4586T>C (n.782+4586T>C) c.*303T>C (n.*303T>C) c.*215T>C (n.*215T>C) c.149T>C c.983+1014T>C (n.983+1014T>C) | dbSNP |
17 | g.7669596G>A | CA16607514 | TP53 | c.*13C>T (n.*13C>T) c.994-3352C>T (n.994-3352C>T) c.782+4585C>T (n.782+4585C>T) c.*302C>T (n.*302C>T) c.*214C>T (n.*214C>T) c.148C>T c.983+1013C>T (n.983+1013C>T) | ClinVar dbSNP |
17 | g.7669596G>C | CA2732943612 | TP53 | c.*13C>G (n.*13C>G) c.994-3352C>G (n.994-3352C>G) c.782+4585C>G (n.782+4585C>G) c.*302C>G (n.*302C>G) c.*214C>G (n.*214C>G) c.148C>G c.983+1013C>G (n.983+1013C>G) | dbSNP |
17 | g.7669596G= | CA2245940390 | TP53 | c.*13C= (n.*13C=) c.994-3352C= (n.994-3352C=) c.782+4585C= (n.782+4585C=) c.*302C= (n.*302C=) c.*214C= (n.*214C=) c.148C= c.983+1013C= (n.983+1013C=) | |
17 | g.7669597A>G | CA2635879082 | TP53 | c.*12T>C (n.*12T>C) c.994-3353T>C (n.994-3353T>C) c.782+4584T>C (n.782+4584T>C) c.*301T>C (n.*301T>C) c.*213T>C (n.*213T>C) c.147T>C c.983+1012T>C (n.983+1012T>C) | gnomAD v4 |
17 | g.7669597A>T | CA2733124289 | TP53 | c.*12T>A (n.*12T>A) c.994-3353T>A (n.994-3353T>A) c.782+4584T>A (n.782+4584T>A) c.*301T>A (n.*301T>A) c.*213T>A (n.*213T>A) c.147T>A c.983+1012T>A (n.983+1012T>A) | dbSNP |
17 | g.7669598A>T | CA2733124300 | TP53 | c.*11T>A (n.*11T>A) c.994-3354T>A (n.994-3354T>A) c.782+4583T>A (n.782+4583T>A) c.*300T>A (n.*300T>A) c.*212T>A (n.*212T>A) c.146T>A c.983+1011T>A (n.983+1011T>A) | dbSNP |
17 | g.7669599G>A | CA2733124306 | TP53 | c.*10C>T (n.*10C>T) c.994-3355C>T (n.994-3355C>T) c.782+4582C>T (n.782+4582C>T) c.*299C>T (n.*299C>T) c.*211C>T (n.*211C>T) c.145C>T c.983+1010C>T (n.983+1010C>T) | dbSNP |
17 | g.7669599G>C | CA2733124303 | TP53 | c.*10C>G (n.*10C>G) c.994-3355C>G (n.994-3355C>G) c.782+4582C>G (n.782+4582C>G) c.*299C>G (n.*299C>G) c.*211C>G (n.*211C>G) c.145C>G c.983+1010C>G (n.983+1010C>G) | dbSNP |
17 | g.7669599G= | CA2245940394 | TP53 | c.*10C= (n.*10C=) c.994-3355C= (n.994-3355C=) c.782+4582C= (n.782+4582C=) c.*299C= (n.*299C=) c.*211C= (n.*211C=) c.145C= c.983+1010C= (n.983+1010C=) | |
17 | g.7669600T>G | CA000666 | TP53 | c.*9A>C (n.*9A>C) c.994-3356A>C (n.994-3356A>C) c.782+4581A>C (n.782+4581A>C) c.*298A>C (n.*298A>C) c.*210A>C (n.*210A>C) c.144A>C c.983+1009A>C (n.983+1009A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7669600T= | CA2245940400 | TP53 | c.*9A= (n.*9A=) c.994-3356A= (n.994-3356A=) c.782+4581A= (n.782+4581A=) c.*298A= (n.*298A=) c.*210A= (n.*210A=) c.144A= c.983+1009A= (n.983+1009A=) | |
17 | g.7669600_7669603dup | CA624725478 | TP53 | c.*6_*9dup (n.*6_*9dup) c.994-3359_994-3356dup (n.994-3359_994-3356dup) c.782+4578_782+4581dup (n.782+4578_782+4581dup) c.*295_*298dup (n.*295_*298dup) c.*207_*210dup (n.*207_*210dup) c.141_144dup c.983+1006_983+1009dup (n.983+1006_983+1009dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7669601G>A | CA2576230448 | TP53 | c.*8C>T (n.*8C>T) c.994-3357C>T (n.994-3357C>T) c.782+4580C>T (n.782+4580C>T) c.*297C>T (n.*297C>T) c.*209C>T (n.*209C>T) c.143C>T c.983+1008C>T (n.983+1008C>T) | gnomAD v4 |
17 | g.7669601G>T | CA2733124642 | TP53 | c.*8C>A (n.*8C>A) c.994-3357C>A (n.994-3357C>A) c.782+4580C>A (n.782+4580C>A) c.*297C>A (n.*297C>A) c.*209C>A (n.*209C>A) c.143C>A c.983+1008C>A (n.983+1008C>A) | dbSNP |
17 | g.7669602G>A | CA2733124645 | TP53 | c.*7C>T (n.*7C>T) c.994-3358C>T (n.994-3358C>T) c.782+4579C>T (n.782+4579C>T) c.*296C>T (n.*296C>T) c.*208C>T (n.*208C>T) c.142C>T c.983+1007C>T (n.983+1007C>T) | dbSNP |
17 | g.7669602G>C | CA2733124643 | TP53 | c.*7C>G (n.*7C>G) c.994-3358C>G (n.994-3358C>G) c.782+4579C>G (n.782+4579C>G) c.*296C>G (n.*296C>G) c.*208C>G (n.*208C>G) c.142C>G c.983+1007C>G (n.983+1007C>G) | dbSNP |
17 | g.7669602G>T | CA2733124644 | TP53 | c.*7C>A (n.*7C>A) c.994-3358C>A (n.994-3358C>A) c.782+4579C>A (n.782+4579C>A) c.*296C>A (n.*296C>A) c.*208C>A (n.*208C>A) c.142C>A c.983+1007C>A (n.983+1007C>A) | dbSNP |
17 | g.7669603A= | CA2245940406 | TP53 | c.*6T= (n.*6T=) c.994-3359T= (n.994-3359T=) c.782+4578T= (n.782+4578T=) c.*295T= (n.*295T=) c.*207T= (n.*207T=) c.141T= c.983+1006T= (n.983+1006T=) | |
17 | g.7669603A>G | CA000668 | TP53 | c.*6T>C (n.*6T>C) c.994-3359T>C (n.994-3359T>C) c.782+4578T>C (n.782+4578T>C) c.*295T>C (n.*295T>C) c.*207T>C (n.*207T>C) c.141T>C c.983+1006T>C (n.983+1006T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7669603A>T | CA000667 | TP53 | c.*6T>A (n.*6T>A) c.994-3359T>A (n.994-3359T>A) c.782+4578T>A (n.782+4578T>A) c.*295T>A (n.*295T>A) c.*207T>A (n.*207T>A) c.141T>A c.983+1006T>A (n.983+1006T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669604G>A | CA656753383 | TP53 | c.*5C>T (n.*5C>T) c.994-3360C>T (n.994-3360C>T) c.782+4577C>T (n.782+4577C>T) c.*294C>T (n.*294C>T) c.*206C>T (n.*206C>T) c.140C>T c.983+1005C>T (n.983+1005C>T) | dbSNP COSMIC |
17 | g.7669604G= | CA2245940409 | TP53 | c.*5C= (n.*5C=) c.994-3360C= (n.994-3360C=) c.782+4577C= (n.782+4577C=) c.*294C= (n.*294C=) c.*206C= (n.*206C=) c.140C= c.983+1005C= (n.983+1005C=) | |
17 | g.7669605A>G | CA2733124646 | TP53 | c.*4T>C (n.*4T>C) c.994-3361T>C (n.994-3361T>C) c.782+4576T>C (n.782+4576T>C) c.*293T>C (n.*293T>C) c.*205T>C (n.*205T>C) c.139T>C c.983+1004T>C (n.983+1004T>C) | dbSNP |
17 | g.7669605A>T | CA2733124647 | TP53 | c.*4T>A (n.*4T>A) c.994-3361T>A (n.994-3361T>A) c.782+4576T>A (n.782+4576T>A) c.*293T>A (n.*293T>A) c.*205T>A (n.*205T>A) c.139T>A c.983+1004T>A (n.983+1004T>A) | dbSNP |
17 | g.7669606A>G | CA2808381468 | TP53 | c.*3T>C (n.*3T>C) c.994-3362T>C (n.994-3362T>C) c.782+4575T>C (n.782+4575T>C) c.*292T>C (n.*292T>C) c.*204T>C (n.*204T>C) c.138T>C c.983+1003T>C (n.983+1003T>C) | |
17 | g.7669607T>A | CA2733124657 | TP53 | c.*2A>T (n.*2A>T) c.994-3363A>T (n.994-3363A>T) c.782+4574A>T (n.782+4574A>T) c.*291A>T (n.*291A>T) c.*203A>T (n.*203A>T) c.137A>T c.983+1002A>T (n.983+1002A>T) | dbSNP |
17 | g.7669607T>G | CA2733124655 | TP53 | c.*2A>C (n.*2A>C) c.994-3363A>C (n.994-3363A>C) c.782+4574A>C (n.782+4574A>C) c.*291A>C (n.*291A>C) c.*203A>C (n.*203A>C) c.137A>C c.983+1002A>C (n.983+1002A>C) | dbSNP |
17 | g.7669608G>A | CA2245940415 | TP53 | c.*1C>T (n.*1C>T) c.994-3364C>T (n.994-3364C>T) c.782+4573C>T (n.782+4573C>T) c.*290C>T (n.*290C>T) c.*202C>T (n.*202C>T) c.136C>T c.983+1001C>T (n.983+1001C>T) | dbSNP gnomAD v4 |
17 | g.7669608G>C | CA2732985887 | TP53 | c.*1C>G (n.*1C>G) c.994-3364C>G (n.994-3364C>G) c.782+4573C>G (n.782+4573C>G) c.*290C>G (n.*290C>G) c.*202C>G (n.*202C>G) c.136C>G c.983+1001C>G (n.983+1001C>G) | dbSNP |
17 | g.7669608G= | CA2245940414 | TP53 | c.*1C= (n.*1C=) c.994-3364C= (n.994-3364C=) c.782+4573C= (n.782+4573C=) c.*290C= (n.*290C=) c.*202C= (n.*202C=) c.136C= c.983+1001C= (n.983+1001C=) | |
17 | g.7669608_7669622delinsT | CA2695202450 | TP53 | c.1169_*1delinsA (n.[c.1169_*1delinsA;Pro390GlnfsTer?]) c.773_*1delinsA (n.[c.773_*1delinsA;Pro258GlnfsTer?]) c.890_*1delinsA (n.[c.890_*1delinsA;Pro297GlnfsTer?]) c.1148_*1delinsA (n.[c.1148_*1delinsA;Pro383GlnfsTer?]) c.994-3378_994-3364delinsA (n.994-3378_994-3364delinsA) c.782+4559_782+4573delinsA (n.782+4559_782+4573delinsA) c.*276_*290delinsA (n.*276_*290delinsA) c.*188_*202delinsA (n.*188_*202delinsA) c.122_136delinsA c.1052_*1delinsA (n.[c.1052_*1delinsA;Pro351GlnfsTer?]) c.692_*1delinsA (n.[c.692_*1delinsA;Pro231GlnfsTer?]) c.983+987_983+1001delinsA (n.983+987_983+1001delinsA) | |
17 | g.7669609_7669690del | CA2581463482 | TP53 | c.1102_*1del (n.[c.1102_*1del;His368IlefsTer27]) c.706_*1del (n.[c.706_*1del;His236IlefsTer27]) c.823_*1del (n.[c.823_*1del;His275IlefsTer27]) c.1081_*1del (n.[c.1081_*1del;His361IlefsTer27]) c.994-3445_994-3364del (n.994-3445_994-3364del) c.782+4492_782+4573del (n.782+4492_782+4573del) c.*209_*290del (n.*209_*290del) c.*121_*202del (n.*121_*202del) c.55_136del c.985_*1del (n.[c.985_*1del;His329IlefsTer27]) c.625_*1del (n.[c.625_*1del;His209IlefsTer27]) c.983+920_983+1001del (n.983+920_983+1001del) | |
17 | g.7669609T>A | CA397829908 | TP53 | c.1182A>T (p.Ter394Cys) c.786A>T (p.Ter262Cys) c.903A>T (p.Ter301Cys) c.1161A>T (p.Ter387Cys) c.994-3365A>T (n.994-3365A>T) c.782+4572A>T (n.782+4572A>T) c.*289A>T (n.*289A>T) c.*201A>T (n.*201A>T) c.135A>T c.1065A>T (p.Ter355Cys) c.1149A>T (p.Ter383Cys) c.705A>T (p.Ter235Cys) c.983+1000A>T (n.983+1000A>T) | ClinVar dbSNP gnomAD v4 |
17 | g.7669609T>C | CA397829910 | TP53 | c.1182A>G (p.Ter394Trp) c.786A>G (p.Ter262Trp) c.903A>G (p.Ter301Trp) c.1161A>G (p.Ter387Trp) c.994-3365A>G (n.994-3365A>G) c.782+4572A>G (n.782+4572A>G) c.*289A>G (n.*289A>G) c.*201A>G (n.*201A>G) c.135A>G c.1065A>G (p.Ter355Trp) c.1149A>G (p.Ter383Trp) c.705A>G (p.Ter235Trp) c.983+1000A>G (n.983+1000A>G) | ClinVar |
17 | g.7669609T>G | CA397829913 | TP53 | c.1182A>C (p.Ter394Cys) c.786A>C (p.Ter262Cys) c.903A>C (p.Ter301Cys) c.1161A>C (p.Ter387Cys) c.994-3365A>C (n.994-3365A>C) c.782+4572A>C (n.782+4572A>C) c.*289A>C (n.*289A>C) c.*201A>C (n.*201A>C) c.135A>C c.1065A>C (p.Ter355Cys) c.1149A>C (p.Ter383Cys) c.705A>C (p.Ter235Cys) c.983+1000A>C (n.983+1000A>C) | dbSNP |
17 | g.7669609T= | CA2245940426 | TP53 | c.1182A= (p.Ter394=) c.786A= (p.Ter262=) c.903A= (p.Ter301=) c.1161A= (p.Ter387=) c.994-3365A= (n.994-3365A=) c.782+4572A= (n.782+4572A=) c.*289A= (n.*289A=) c.*201A= (n.*201A=) c.135A= c.1065A= (p.Ter355=) c.1149A= (p.Ter383=) c.705A= (p.Ter235=) c.983+1000A= (n.983+1000A=) | |
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.7669610C>A | CA397829921 | TP53 | c.1181G>T (p.Ter394Leu) c.785G>T (p.Ter262Leu) c.902G>T (p.Ter301Leu) c.1160G>T (p.Ter387Leu) c.994-3366G>T (n.994-3366G>T) c.782+4571G>T (n.782+4571G>T) c.*288G>T (n.*288G>T) c.*200G>T (n.*200G>T) c.134G>T c.1064G>T (p.Ter355Leu) c.1148G>T (p.Ter383Leu) c.704G>T (p.Ter235Leu) c.983+999G>T (n.983+999G>T) | dbSNP |
17 | g.7669610C>G | CA397829924 | TP53 | c.1181G>C (p.Ter394Ser) c.785G>C (p.Ter262Ser) c.902G>C (p.Ter301Ser) c.1160G>C (p.Ter387Ser) c.994-3366G>C (n.994-3366G>C) c.782+4571G>C (n.782+4571G>C) c.*288G>C (n.*288G>C) c.*200G>C (n.*200G>C) c.134G>C c.1064G>C (p.Ter355Ser) c.1148G>C (p.Ter383Ser) c.704G>C (p.Ter235Ser) c.983+999G>C (n.983+999G>C) | dbSNP |
17 | g.7669610C>T | CA497711106 | TP53 | c.1181G>A (p.Ter394=) c.785G>A (p.Ter262=) c.902G>A (p.Ter301=) c.1160G>A (p.Ter387=) c.994-3366G>A (n.994-3366G>A) c.782+4571G>A (n.782+4571G>A) c.*288G>A (n.*288G>A) c.*200G>A (n.*200G>A) c.134G>A c.1064G>A (p.Ter355=) c.1148G>A (p.Ter383=) c.704G>A (p.Ter235=) c.983+999G>A (n.983+999G>A) | dbSNP |
17 | g.7669611_7669681dup | CA2573154464 | TP53 | c.1111_1181dup (p.Ter394CysextTer52) c.715_785dup (p.Ter262CysextTer52) c.832_902dup (p.Ter301CysextTer52) c.1090_1160dup (p.Ter387CysextTer52) c.994-3436_994-3366dup (n.994-3436_994-3366dup) c.782+4501_782+4571dup (n.782+4501_782+4571dup) c.*218_*288dup (n.*218_*288dup) c.*130_*200dup (n.*130_*200dup) c.64_134dup c.994_1064dup (p.Ter355CysextTer52) c.1078_1148dup (p.Ter383CysextTer?) c.634_704dup (p.Ter235CysextTer52) c.983+929_983+999dup (n.983+929_983+999dup) | ClinVar dbSNP |
17 | g.7669611A= | CA2245940439 | TP53 | c.1180T= (p.Ter394=) c.784T= (p.Ter262=) c.901T= (p.Ter301=) c.1159T= (p.Ter387=) c.994-3367T= (n.994-3367T=) c.782+4570T= (n.782+4570T=) c.*287T= (n.*287T=) c.*199T= (n.*199T=) c.133T= c.1063T= (p.Ter355=) c.1147T= (p.Ter383=) c.703T= (p.Ter235=) c.983+998T= (n.983+998T=) | |
17 | g.7669611A>C | CA397829928 | TP53 | c.1180T>G (p.Ter394Gly) c.784T>G (p.Ter262Gly) c.901T>G (p.Ter301Gly) c.1159T>G (p.Ter387Gly) c.994-3367T>G (n.994-3367T>G) c.782+4570T>G (n.782+4570T>G) c.*287T>G (n.*287T>G) c.*199T>G (n.*199T>G) c.133T>G c.1063T>G (p.Ter355Gly) c.1147T>G (p.Ter383Gly) c.703T>G (p.Ter235Gly) c.983+998T>G (n.983+998T>G) | ClinVar dbSNP |
17 | g.7669611A>G | CA397829929 | TP53 | c.1180T>C (p.Ter394Arg) c.784T>C (p.Ter262Arg) c.901T>C (p.Ter301Arg) c.1159T>C (p.Ter387Arg) c.994-3367T>C (n.994-3367T>C) c.782+4570T>C (n.782+4570T>C) c.*287T>C (n.*287T>C) c.*199T>C (n.*199T>C) c.133T>C c.1063T>C (p.Ter355Arg) c.1147T>C (p.Ter383Arg) c.703T>C (p.Ter235Arg) c.983+998T>C (n.983+998T>C) | ClinVar dbSNP |
17 | g.7669611A>T | CA397829931 | TP53 | c.1180T>A (p.Ter394Arg) c.784T>A (p.Ter262Arg) c.901T>A (p.Ter301Arg) c.1159T>A (p.Ter387Arg) c.994-3367T>A (n.994-3367T>A) c.782+4570T>A (n.782+4570T>A) c.*287T>A (n.*287T>A) c.*199T>A (n.*199T>A) c.133T>A c.1063T>A (p.Ter355Arg) c.1147T>A (p.Ter383Arg) c.703T>A (p.Ter235Arg) c.983+998T>A (n.983+998T>A) | ClinVar dbSNP |
17 | g.7669612G>A | CA497711112 | TP53 | c.1179C>T (p.Asp393=) c.783C>T (p.Asp261=) c.900C>T (p.Asp300=) c.1158C>T (p.Asp386=) c.994-3368C>T (n.994-3368C>T) c.782+4569C>T (n.782+4569C>T) c.*286C>T (n.*286C>T) c.*198C>T (n.*198C>T) c.132C>T c.1062C>T (p.Asp354=) c.1146C>T (p.Asp382=) c.702C>T (p.Asp234=) c.983+997C>T (n.983+997C>T) | ClinVar dbSNP |
17 | g.7669612G>C | CA397829932 | TP53 | c.1179C>G (p.Asp393Glu) c.783C>G (p.Asp261Glu) c.900C>G (p.Asp300Glu) c.1158C>G (p.Asp386Glu) c.994-3368C>G (n.994-3368C>G) c.782+4569C>G (n.782+4569C>G) c.*286C>G (n.*286C>G) c.*198C>G (n.*198C>G) c.132C>G c.1062C>G (p.Asp354Glu) c.1146C>G (p.Asp382Glu) c.702C>G (p.Asp234Glu) c.983+997C>G (n.983+997C>G) | ClinVar dbSNP |
17 | g.7669612G= | CA2245940451 | TP53 | c.1179C= (p.Asp393=) c.783C= (p.Asp261=) c.900C= (p.Asp300=) c.1158C= (p.Asp386=) c.994-3368C= (n.994-3368C=) c.782+4569C= (n.782+4569C=) c.*286C= (n.*286C=) c.*198C= (n.*198C=) c.132C= c.1062C= (p.Asp354=) c.1146C= (p.Asp382=) c.702C= (p.Asp234=) c.983+997C= (n.983+997C=) | |
17 | g.7669612G>T | CA397829937 | TP53 | c.1179C>A (p.Asp393Glu) c.783C>A (p.Asp261Glu) c.900C>A (p.Asp300Glu) c.1158C>A (p.Asp386Glu) c.994-3368C>A (n.994-3368C>A) c.782+4569C>A (n.782+4569C>A) c.*286C>A (n.*286C>A) c.*198C>A (n.*198C>A) c.132C>A c.1062C>A (p.Asp354Glu) c.1146C>A (p.Asp382Glu) c.702C>A (p.Asp234Glu) c.983+997C>A (n.983+997C>A) | |
17 | g.7669612dup | CA645369640 | TP53 | c.1179dup (p.Ter394LeuextTer?) c.783dup (p.Ter262LeuextTer?) c.900dup (p.Ter301LeuextTer?) c.1158dup (p.Ter387LeuextTer?) c.994-3368dup (n.994-3368dup) c.782+4569dup (n.782+4569dup) c.*286dup (n.*286dup) c.*198dup (n.*198dup) c.132dup c.1062dup (p.Ter355LeuextTer?) c.1146dup (p.Ter383LeuextTer?) c.702dup (p.Ter235LeuextTer?) c.983+997dup (n.983+997dup) | ClinVar dbSNP |
17 | g.7669613_7669616del | CA645587284 | TP53 | c.1176_1179del (p.Ter394IleextTer27) c.780_783del (p.Ter262IleextTer27) c.897_900del (p.Ter301IleextTer27) c.1155_1158del (p.Ter387IleextTer27) c.994-3371_994-3368del (n.994-3371_994-3368del) c.782+4566_782+4569del (n.782+4566_782+4569del) c.*283_*286del (n.*283_*286del) c.*195_*198del (n.*195_*198del) c.129_132del c.1059_1062del (p.Ter355IleextTer27) c.1143_1146del (p.Ser381=) c.699_702del (p.Ter235IleextTer27) c.983+994_983+997del (n.983+994_983+997del) | COSMIC |
17 | g.7669613T>A | CA397829951 | TP53 | c.1178A>T (p.Asp393Val) c.782A>T (p.Asp261Val) c.899A>T (p.Asp300Val) c.1157A>T (p.Asp386Val) c.994-3369A>T (n.994-3369A>T) c.782+4568A>T (n.782+4568A>T) c.*285A>T (n.*285A>T) c.*197A>T (n.*197A>T) c.131A>T c.1061A>T (p.Asp354Val) c.1145A>T (p.Asp382Val) c.701A>T (p.Asp234Val) c.983+996A>T (n.983+996A>T) | dbSNP gnomAD v4 |
17 | g.7669613T>C | CA397829952 | TP53 | c.1178A>G (p.Asp393Gly) c.782A>G (p.Asp261Gly) c.899A>G (p.Asp300Gly) c.1157A>G (p.Asp386Gly) c.994-3369A>G (n.994-3369A>G) c.782+4568A>G (n.782+4568A>G) c.*285A>G (n.*285A>G) c.*197A>G (n.*197A>G) c.131A>G c.1061A>G (p.Asp354Gly) c.1145A>G (p.Asp382Gly) c.701A>G (p.Asp234Gly) c.983+996A>G (n.983+996A>G) | |
17 | g.7669613T>G | CA397829953 | TP53 | c.1178A>C (p.Asp393Ala) c.782A>C (p.Asp261Ala) c.899A>C (p.Asp300Ala) c.1157A>C (p.Asp386Ala) c.994-3369A>C (n.994-3369A>C) c.782+4568A>C (n.782+4568A>C) c.*285A>C (n.*285A>C) c.*197A>C (n.*197A>C) c.131A>C c.1061A>C (p.Asp354Ala) c.1145A>C (p.Asp382Ala) c.701A>C (p.Asp234Ala) c.983+996A>C (n.983+996A>C) | |
17 | g.7669613_7669614delinsTC | CA2245940455 | TP53 | c.1177_1178delinsGA (p.Asp393=) c.781_782delinsGA (p.Asp261=) c.898_899delinsGA (p.Asp300=) c.1156_1157delinsGA (p.Asp386=) c.994-3370_994-3369delinsGA (n.994-3370_994-3369delinsGA) c.782+4567_782+4568delinsGA (n.782+4567_782+4568delinsGA) c.*284_*285delinsGA (n.*284_*285delinsGA) c.*196_*197delinsGA (n.*196_*197delinsGA) c.130_131delinsGA c.1060_1061delinsGA (p.Asp354=) c.1144_1145delinsGA (p.Asp382=) c.700_701delinsGA (p.Asp234=) c.983+995_983+996delinsGA (n.983+995_983+996delinsGA) | |
17 | g.7669614del | CA658656516 | TP53 | c.1177del (p.Asp393ThrfsTer29) c.781del (p.Asp261ThrfsTer29) c.898del (p.Asp300ThrfsTer29) c.1156del (p.Asp386ThrfsTer29) c.994-3370del (n.994-3370del) c.782+4567del (n.782+4567del) c.*284del (n.*284del) c.*196del (n.*196del) c.130del c.1060del (p.Asp354ThrfsTer29) c.1144del (p.Asp382ThrfsTer?) c.700del (p.Asp234ThrfsTer29) c.983+995del (n.983+995del) | ClinVar dbSNP |
17 | g.7669614C>A | CA397829955 | TP53 | c.1177G>T (p.Asp393Tyr) c.781G>T (p.Asp261Tyr) c.898G>T (p.Asp300Tyr) c.1156G>T (p.Asp386Tyr) c.994-3370G>T (n.994-3370G>T) c.782+4567G>T (n.782+4567G>T) c.*284G>T (n.*284G>T) c.*196G>T (n.*196G>T) c.130G>T c.1060G>T (p.Asp354Tyr) c.1144G>T (p.Asp382Tyr) c.700G>T (p.Asp234Tyr) c.983+995G>T (n.983+995G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7669614C= | CA2245940466 | TP53 | c.1177G= (p.Asp393=) c.781G= (p.Asp261=) c.898G= (p.Asp300=) c.1156G= (p.Asp386=) c.994-3370G= (n.994-3370G=) c.782+4567G= (n.782+4567G=) c.*284G= (n.*284G=) c.*196G= (n.*196G=) c.130G= c.1060G= (p.Asp354=) c.1144G= (p.Asp382=) c.700G= (p.Asp234=) c.983+995G= (n.983+995G=) | |
17 | g.7669614C>G | CA397829956 | TP53 | c.1177G>C (p.Asp393His) c.781G>C (p.Asp261His) c.898G>C (p.Asp300His) c.1156G>C (p.Asp386His) c.994-3370G>C (n.994-3370G>C) c.782+4567G>C (n.782+4567G>C) c.*284G>C (n.*284G>C) c.*196G>C (n.*196G>C) c.130G>C c.1060G>C (p.Asp354His) c.1144G>C (p.Asp382His) c.700G>C (p.Asp234His) c.983+995G>C (n.983+995G>C) | ClinVar dbSNP gnomAD v4 |
17 | g.7669614C>T | CA397829958 | TP53 | c.1177G>A (p.Asp393Asn) c.781G>A (p.Asp261Asn) c.898G>A (p.Asp300Asn) c.1156G>A (p.Asp386Asn) c.994-3370G>A (n.994-3370G>A) c.782+4567G>A (n.782+4567G>A) c.*284G>A (n.*284G>A) c.*196G>A (n.*196G>A) c.130G>A c.1060G>A (p.Asp354Asn) c.1144G>A (p.Asp382Asn) c.700G>A (p.Asp234Asn) c.983+995G>A (n.983+995G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.7669615T>A | CA497711130 | TP53 | c.1176A>T (p.Ser392=) c.780A>T (p.Ser260=) c.897A>T (p.Ser299=) c.1155A>T (p.Ser385=) c.994-3371A>T (n.994-3371A>T) c.782+4566A>T (n.782+4566A>T) c.*283A>T (n.*283A>T) c.*195A>T (n.*195A>T) c.129A>T c.1059A>T (p.Ser353=) c.1143A>T (p.Ser381=) c.699A>T (p.Ser233=) c.983+994A>T (n.983+994A>T) | |
17 | g.7669615T>C | CA497711132 | TP53 | c.1176A>G (p.Ser392=) c.780A>G (p.Ser260=) c.897A>G (p.Ser299=) c.1155A>G (p.Ser385=) c.994-3371A>G (n.994-3371A>G) c.782+4566A>G (n.782+4566A>G) c.*283A>G (n.*283A>G) c.*195A>G (n.*195A>G) c.129A>G c.1059A>G (p.Ser353=) c.1143A>G (p.Ser381=) c.699A>G (p.Ser233=) c.983+994A>G (n.983+994A>G) | |
17 | g.7669615T>G | CA497711134 | TP53 | c.1176A>C (p.Ser392=) c.780A>C (p.Ser260=) c.897A>C (p.Ser299=) c.1155A>C (p.Ser385=) c.994-3371A>C (n.994-3371A>C) c.782+4566A>C (n.782+4566A>C) c.*283A>C (n.*283A>C) c.*195A>C (n.*195A>C) c.129A>C c.1059A>C (p.Ser353=) c.1143A>C (p.Ser381=) c.699A>C (p.Ser233=) c.983+994A>C (n.983+994A>C) | |
17 | g.7669615_7669616insTCTT | CA2580094799 | TP53 | c.1176_1177insAGAA (p.Asp393ArgfsTer?) c.780_781insAGAA (p.Asp261ArgfsTer?) c.897_898insAGAA (p.Asp300ArgfsTer?) c.1155_1156insAGAA (p.Asp386ArgfsTer?) c.994-3371_994-3370insAGAA (n.994-3371_994-3370insAGAA) c.782+4566_782+4567insAGAA (n.782+4566_782+4567insAGAA) c.*283_*284insAGAA (n.*283_*284insAGAA) c.*195_*196insAGAA (n.*195_*196insAGAA) c.129_130insAGAA c.1059_1060insAGAA (p.Asp354ArgfsTer?) c.1143_1144insAGAA (p.Asp382ArgfsTer?) c.699_700insAGAA (p.Asp234ArgfsTer?) c.983+994_983+995insAGAA (n.983+994_983+995insAGAA) | ClinVar |
17 | g.7669615dup | CA645587285 | TP53 | c.1176dup (p.Asp393ArgfsTer?) c.780dup (p.Asp261ArgfsTer?) c.897dup (p.Asp300ArgfsTer?) c.1155dup (p.Asp386ArgfsTer?) c.994-3371dup (n.994-3371dup) c.782+4566dup (n.782+4566dup) c.*283dup (n.*283dup) c.*195dup (n.*195dup) c.129dup c.1059dup (p.Asp354ArgfsTer?) c.1143dup (p.Asp382ArgfsTer?) c.699dup (p.Asp234ArgfsTer?) c.983+994dup (n.983+994dup) | ClinVar COSMIC |
17 | g.7669615_7669616insA | CA497711149 | TP53 | c.1175_1176insT (p.Asp393ArgfsTer?) c.779_780insT (p.Asp261ArgfsTer?) c.896_897insT (p.Asp300ArgfsTer?) c.1154_1155insT (p.Asp386ArgfsTer?) c.994-3372_994-3371insT (n.994-3372_994-3371insT) c.782+4565_782+4566insT (n.782+4565_782+4566insT) c.*282_*283insT (n.*282_*283insT) c.*194_*195insT (n.*194_*195insT) c.128_129insT c.1058_1059insT (p.Asp354ArgfsTer?) c.1142_1143insT (p.Asp382ArgfsTer?) c.698_699insT (p.Asp234ArgfsTer?) c.983+993_983+994insT (n.983+993_983+994insT) | |
17 | g.7669616G>A | CA397829980 | TP53 | c.1175C>T (p.Ser392Leu) c.779C>T (p.Ser260Leu) c.896C>T (p.Ser299Leu) c.1154C>T (p.Ser385Leu) c.994-3372C>T (n.994-3372C>T) c.782+4565C>T (n.782+4565C>T) c.*282C>T (n.*282C>T) c.*194C>T (n.*194C>T) c.128C>T c.1058C>T (p.Ser353Leu) c.1142C>T (p.Ser381Leu) c.698C>T (p.Ser233Leu) c.983+993C>T (n.983+993C>T) | dbSNP gnomAD v4 COSMIC |
17 | g.7669616G>C | CA397829963 | TP53 | c.1175C>G (p.Ser392Ter) c.779C>G (p.Ser260Ter) c.896C>G (p.Ser299Ter) c.1154C>G (p.Ser385Ter) c.994-3372C>G (n.994-3372C>G) c.782+4565C>G (n.782+4565C>G) c.*282C>G (n.*282C>G) c.*194C>G (n.*194C>G) c.128C>G c.1058C>G (p.Ser353Ter) c.1142C>G (p.Ser381Ter) c.698C>G (p.Ser233Ter) c.983+993C>G (n.983+993C>G) | dbSNP |
17 | g.7669616G= | CA2245940480 | TP53 | c.1175C= (p.Ser392=) c.779C= (p.Ser260=) c.896C= (p.Ser299=) c.1154C= (p.Ser385=) c.994-3372C= (n.994-3372C=) c.782+4565C= (n.782+4565C=) c.*282C= (n.*282C=) c.*194C= (n.*194C=) c.128C= c.1058C= (p.Ser353=) c.1142C= (p.Ser381=) c.698C= (p.Ser233=) c.983+993C= (n.983+993C=) | |
17 | g.7669616G>T | CA000669 | TP53 | c.1175C>A (p.Ser392Ter) c.779C>A (p.Ser260Ter) c.896C>A (p.Ser299Ter) c.1154C>A (p.Ser385Ter) c.994-3372C>A (n.994-3372C>A) c.782+4565C>A (n.782+4565C>A) c.*282C>A (n.*282C>A) c.*194C>A (n.*194C>A) c.128C>A c.1058C>A (p.Ser353Ter) c.1142C>A (p.Ser381Ter) c.698C>A (p.Ser233Ter) c.983+993C>A (n.983+993C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7669617A>C | CA397829988 | TP53 | c.1174T>G (p.Ser392Ala) c.778T>G (p.Ser260Ala) c.895T>G (p.Ser299Ala) c.1153T>G (p.Ser385Ala) c.994-3373T>G (n.994-3373T>G) c.782+4564T>G (n.782+4564T>G) c.*281T>G (n.*281T>G) c.*193T>G (n.*193T>G) c.127T>G c.1057T>G (p.Ser353Ala) c.1141T>G (p.Ser381Ala) c.697T>G (p.Ser233Ala) c.983+992T>G (n.983+992T>G) | |
17 | g.7669617A>G | CA397829995 | TP53 | c.1174T>C (p.Ser392Pro) c.778T>C (p.Ser260Pro) c.895T>C (p.Ser299Pro) c.1153T>C (p.Ser385Pro) c.994-3373T>C (n.994-3373T>C) c.782+4564T>C (n.782+4564T>C) c.*281T>C (n.*281T>C) c.*193T>C (n.*193T>C) c.127T>C c.1057T>C (p.Ser353Pro) c.1141T>C (p.Ser381Pro) c.697T>C (p.Ser233Pro) c.983+992T>C (n.983+992T>C) | ClinVar dbSNP |
17 | g.7669617A>T | CA397830000 | TP53 | c.1174T>A (p.Ser392Thr) c.778T>A (p.Ser260Thr) c.895T>A (p.Ser299Thr) c.1153T>A (p.Ser385Thr) c.994-3373T>A (n.994-3373T>A) c.782+4564T>A (n.782+4564T>A) c.*281T>A (n.*281T>A) c.*193T>A (n.*193T>A) c.127T>A c.1057T>A (p.Ser353Thr) c.1141T>A (p.Ser381Thr) c.697T>A (p.Ser233Thr) c.983+992T>A (n.983+992T>A) | dbSNP |
17 | g.7669619_7669622del | CA2695224213 | TP53 | c.1171_1174del (p.Asp391GlnfsTer30) c.775_778del (p.Asp259GlnfsTer30) c.892_895del (p.Asp298GlnfsTer30) c.1150_1153del (p.Asp384GlnfsTer30) c.994-3376_994-3373del (n.994-3376_994-3373del) c.782+4561_782+4564del (n.782+4561_782+4564del) c.*278_*281del (n.*278_*281del) c.*190_*193del (n.*190_*193del) c.124_127del c.1054_1057del (p.Asp352GlnfsTer30) c.1138_1141del (p.Asp380GlnfsTer?) c.694_697del (p.Asp232GlnfsTer30) c.983+989_983+992del (n.983+989_983+992del) | |
17 | g.7669618G>A | CA497711153 | TP53 | c.1173C>T (p.Asp391=) c.777C>T (p.Asp259=) c.894C>T (p.Asp298=) c.1152C>T (p.Asp384=) c.994-3374C>T (n.994-3374C>T) c.782+4563C>T (n.782+4563C>T) c.*280C>T (n.*280C>T) c.*192C>T (n.*192C>T) c.126C>T c.1056C>T (p.Asp352=) c.1140C>T (p.Asp380=) c.696C>T (p.Asp232=) c.983+991C>T (n.983+991C>T) | ClinVar dbSNP |
17 | g.7669618G>C | CA397830032 | TP53 | c.1173C>G (p.Asp391Glu) c.777C>G (p.Asp259Glu) c.894C>G (p.Asp298Glu) c.1152C>G (p.Asp384Glu) c.994-3374C>G (n.994-3374C>G) c.782+4563C>G (n.782+4563C>G) c.*280C>G (n.*280C>G) c.*192C>G (n.*192C>G) c.126C>G c.1056C>G (p.Asp352Glu) c.1140C>G (p.Asp380Glu) c.696C>G (p.Asp232Glu) c.983+991C>G (n.983+991C>G) | ClinVar dbSNP |
17 | g.7669618G= | CA2245940490 | TP53 | c.1173C= (p.Asp391=) c.777C= (p.Asp259=) c.894C= (p.Asp298=) c.1152C= (p.Asp384=) c.994-3374C= (n.994-3374C=) c.782+4563C= (n.782+4563C=) c.*280C= (n.*280C=) c.*192C= (n.*192C=) c.126C= c.1056C= (p.Asp352=) c.1140C= (p.Asp380=) c.696C= (p.Asp232=) c.983+991C= (n.983+991C=) | |
17 | g.7669618G>T | CA397830036 | TP53 | c.1173C>A (p.Asp391Glu) c.777C>A (p.Asp259Glu) c.894C>A (p.Asp298Glu) c.1152C>A (p.Asp384Glu) c.994-3374C>A (n.994-3374C>A) c.782+4563C>A (n.782+4563C>A) c.*280C>A (n.*280C>A) c.*192C>A (n.*192C>A) c.126C>A c.1056C>A (p.Asp352Glu) c.1140C>A (p.Asp380Glu) c.696C>A (p.Asp232Glu) c.983+991C>A (n.983+991C>A) | dbSNP |
17 | g.7669619T>A | CA397830069 | TP53 | c.1172A>T (p.Asp391Val) c.776A>T (p.Asp259Val) c.893A>T (p.Asp298Val) c.1151A>T (p.Asp384Val) c.994-3375A>T (n.994-3375A>T) c.782+4562A>T (n.782+4562A>T) c.*279A>T (n.*279A>T) c.*191A>T (n.*191A>T) c.125A>T c.1055A>T (p.Asp352Val) c.1139A>T (p.Asp380Val) c.695A>T (p.Asp232Val) c.983+990A>T (n.983+990A>T) | dbSNP |
17 | g.7669619T>C | CA397830063 | TP53 | c.1172A>G (p.Asp391Gly) c.776A>G (p.Asp259Gly) c.893A>G (p.Asp298Gly) c.1151A>G (p.Asp384Gly) c.994-3375A>G (n.994-3375A>G) c.782+4562A>G (n.782+4562A>G) c.*279A>G (n.*279A>G) c.*191A>G (n.*191A>G) c.125A>G c.1055A>G (p.Asp352Gly) c.1139A>G (p.Asp380Gly) c.695A>G (p.Asp232Gly) c.983+990A>G (n.983+990A>G) | |
17 | g.7669619T>G | CA397830064 | TP53 | c.1172A>C (p.Asp391Ala) c.776A>C (p.Asp259Ala) c.893A>C (p.Asp298Ala) c.1151A>C (p.Asp384Ala) c.994-3375A>C (n.994-3375A>C) c.782+4562A>C (n.782+4562A>C) c.*279A>C (n.*279A>C) c.*191A>C (n.*191A>C) c.125A>C c.1055A>C (p.Asp352Ala) c.1139A>C (p.Asp380Ala) c.695A>C (p.Asp232Ala) c.983+990A>C (n.983+990A>C) | dbSNP |
17 | g.7669620del | CA2573154465 | TP53 | c.1171del (p.Asp391ThrfsTer?) c.775del (p.Asp259ThrfsTer?) c.892del (p.Asp298ThrfsTer?) c.1150del (p.Asp384ThrfsTer?) c.994-3376del (n.994-3376del) c.782+4561del (n.782+4561del) c.*278del (n.*278del) c.*190del (n.*190del) c.124del c.1054del (p.Asp352ThrfsTer?) c.1138del (p.Asp380ThrfsTer?) c.694del (p.Asp232ThrfsTer?) c.983+989del (n.983+989del) | ClinVar dbSNP |
17 | g.7669620C>A | CA397830071 | TP53 | c.1171G>T (p.Asp391Tyr) c.775G>T (p.Asp259Tyr) c.892G>T (p.Asp298Tyr) c.1150G>T (p.Asp384Tyr) c.994-3376G>T (n.994-3376G>T) c.782+4561G>T (n.782+4561G>T) c.*278G>T (n.*278G>T) c.*190G>T (n.*190G>T) c.124G>T c.1054G>T (p.Asp352Tyr) c.1138G>T (p.Asp380Tyr) c.694G>T (p.Asp232Tyr) c.983+989G>T (n.983+989G>T) | COSMIC COSMIC |
17 | g.7669620C>G | CA397830077 | TP53 | c.1171G>C (p.Asp391His) c.775G>C (p.Asp259His) c.892G>C (p.Asp298His) c.1150G>C (p.Asp384His) c.994-3376G>C (n.994-3376G>C) c.782+4561G>C (n.782+4561G>C) c.*278G>C (n.*278G>C) c.*190G>C (n.*190G>C) c.124G>C c.1054G>C (p.Asp352His) c.1138G>C (p.Asp380His) c.694G>C (p.Asp232His) c.983+989G>C (n.983+989G>C) | dbSNP |
17 | g.7669620C>T | CA397830082 | TP53 | c.1171G>A (p.Asp391Asn) c.775G>A (p.Asp259Asn) c.892G>A (p.Asp298Asn) c.1150G>A (p.Asp384Asn) c.994-3376G>A (n.994-3376G>A) c.782+4561G>A (n.782+4561G>A) c.*278G>A (n.*278G>A) c.*190G>A (n.*190G>A) c.124G>A c.1054G>A (p.Asp352Asn) c.1138G>A (p.Asp380Asn) c.694G>A (p.Asp232Asn) c.983+989G>A (n.983+989G>A) | dbSNP COSMIC COSMIC |
17 | g.7669621A>C | CA497711180 | TP53 | c.1170T>G (p.Pro390=) c.774T>G (p.Pro258=) c.891T>G (p.Pro297=) c.1149T>G (p.Pro383=) c.994-3377T>G (n.994-3377T>G) c.782+4560T>G (n.782+4560T>G) c.*277T>G (n.*277T>G) c.*189T>G (n.*189T>G) c.123T>G c.1053T>G (p.Pro351=) c.1137T>G (p.Pro379=) c.693T>G (p.Pro231=) c.983+988T>G (n.983+988T>G) | ClinVar |
17 | g.7669621A>G | CA497711186 | TP53 | c.1170T>C (p.Pro390=) c.774T>C (p.Pro258=) c.891T>C (p.Pro297=) c.1149T>C (p.Pro383=) c.994-3377T>C (n.994-3377T>C) c.782+4560T>C (n.782+4560T>C) c.*277T>C (n.*277T>C) c.*189T>C (n.*189T>C) c.123T>C c.1053T>C (p.Pro351=) c.1137T>C (p.Pro379=) c.693T>C (p.Pro231=) c.983+988T>C (n.983+988T>C) | dbSNP |
17 | g.7669621A>T | CA497711181 | TP53 | c.1170T>A (p.Pro390=) c.774T>A (p.Pro258=) c.891T>A (p.Pro297=) c.1149T>A (p.Pro383=) c.994-3377T>A (n.994-3377T>A) c.782+4560T>A (n.782+4560T>A) c.*277T>A (n.*277T>A) c.*189T>A (n.*189T>A) c.123T>A c.1053T>A (p.Pro351=) c.1137T>A (p.Pro379=) c.693T>A (p.Pro231=) c.983+988T>A (n.983+988T>A) | dbSNP gnomAD v4 |
17 | g.7669622G>A | CA397830087 | TP53 | c.1169C>T (p.Pro390Leu) c.773C>T (p.Pro258Leu) c.890C>T (p.Pro297Leu) c.1148C>T (p.Pro383Leu) c.994-3378C>T (n.994-3378C>T) c.782+4559C>T (n.782+4559C>T) c.*276C>T (n.*276C>T) c.*188C>T (n.*188C>T) c.122C>T c.1052C>T (p.Pro351Leu) c.1136C>T (p.Pro379Leu) c.692C>T (p.Pro231Leu) c.983+987C>T (n.983+987C>T) | dbSNP gnomAD v4 |
17 | g.7669622G>C | CA397830092 | TP53 | c.1169C>G (p.Pro390Arg) c.773C>G (p.Pro258Arg) c.890C>G (p.Pro297Arg) c.1148C>G (p.Pro383Arg) c.994-3378C>G (n.994-3378C>G) c.782+4559C>G (n.782+4559C>G) c.*276C>G (n.*276C>G) c.*188C>G (n.*188C>G) c.122C>G c.1052C>G (p.Pro351Arg) c.1136C>G (p.Pro379Arg) c.692C>G (p.Pro231Arg) c.983+987C>G (n.983+987C>G) | dbSNP |
17 | g.7669622G>T | CA397830093 | TP53 | c.1169C>A (p.Pro390His) c.773C>A (p.Pro258His) c.890C>A (p.Pro297His) c.1148C>A (p.Pro383His) c.994-3378C>A (n.994-3378C>A) c.782+4559C>A (n.782+4559C>A) c.*276C>A (n.*276C>A) c.*188C>A (n.*188C>A) c.122C>A c.1052C>A (p.Pro351His) c.1136C>A (p.Pro379His) c.692C>A (p.Pro231His) c.983+987C>A (n.983+987C>A) | |
17 | g.7669623G>A | CA397830095 | TP53 | c.1168C>T (p.Pro390Ser) c.772C>T (p.Pro258Ser) c.889C>T (p.Pro297Ser) c.1147C>T (p.Pro383Ser) c.994-3379C>T (n.994-3379C>T) c.782+4558C>T (n.782+4558C>T) c.*275C>T (n.*275C>T) c.*187C>T (n.*187C>T) c.121C>T c.1051C>T (p.Pro351Ser) c.1135C>T (p.Pro379Ser) c.691C>T (p.Pro231Ser) c.983+986C>T (n.983+986C>T) | |
17 | g.7669623G>C | CA397830099 | TP53 | c.1168C>G (p.Pro390Ala) c.772C>G (p.Pro258Ala) c.889C>G (p.Pro297Ala) c.1147C>G (p.Pro383Ala) c.994-3379C>G (n.994-3379C>G) c.782+4558C>G (n.782+4558C>G) c.*275C>G (n.*275C>G) c.*187C>G (n.*187C>G) c.121C>G c.1051C>G (p.Pro351Ala) c.1135C>G (p.Pro379Ala) c.691C>G (p.Pro231Ala) c.983+986C>G (n.983+986C>G) | dbSNP |
17 | g.7669623G= | CA2245940505 | TP53 | c.1168C= (p.Pro390=) c.772C= (p.Pro258=) c.889C= (p.Pro297=) c.1147C= (p.Pro383=) c.994-3379C= (n.994-3379C=) c.782+4558C= (n.782+4558C=) c.*275C= (n.*275C=) c.*187C= (n.*187C=) c.121C= c.1051C= (p.Pro351=) c.1135C= (p.Pro379=) c.691C= (p.Pro231=) c.983+986C= (n.983+986C=) | |
17 | g.7669623G>T | CA397830121 | TP53 | c.1168C>A (p.Pro390Thr) c.772C>A (p.Pro258Thr) c.889C>A (p.Pro297Thr) c.1147C>A (p.Pro383Thr) c.994-3379C>A (n.994-3379C>A) c.782+4558C>A (n.782+4558C>A) c.*275C>A (n.*275C>A) c.*187C>A (n.*187C>A) c.121C>A c.1051C>A (p.Pro351Thr) c.1135C>A (p.Pro379Thr) c.691C>A (p.Pro231Thr) c.983+986C>A (n.983+986C>A) | ClinVar dbSNP |
17 | g.7669623_7669624delinsGC | CA2245940509 | TP53 | c.1167_1168delinsGC (p.Gly389=) c.771_772delinsGC (p.Gly257=) c.888_889delinsGC (p.Gly296=) c.1146_1147delinsGC (p.Gly382=) c.994-3380_994-3379delinsGC (n.994-3380_994-3379delinsGC) c.782+4557_782+4558delinsGC (n.782+4557_782+4558delinsGC) c.*274_*275delinsGC (n.*274_*275delinsGC) c.*186_*187delinsGC (n.*186_*187delinsGC) c.120_121delinsGC c.1050_1051delinsGC (p.Gly350=) c.1134_1135delinsGC (p.Gly378=) c.690_691delinsGC (p.Gly230=) c.983+985_983+986delinsGC (n.983+985_983+986delinsGC) | |
17 | g.7669624C>A | CA497711205 | TP53 | c.1167G>T (p.Gly389=) c.771G>T (p.Gly257=) c.888G>T (p.Gly296=) c.1146G>T (p.Gly382=) c.994-3380G>T (n.994-3380G>T) c.782+4557G>T (n.782+4557G>T) c.*274G>T (n.*274G>T) c.*186G>T (n.*186G>T) c.120G>T c.1050G>T (p.Gly350=) c.1134G>T (p.Gly378=) c.690G>T (p.Gly230=) c.983+985G>T (n.983+985G>T) | ClinVar dbSNP |
17 | g.7669624C= | CA2245940519 | TP53 | c.1167G= (p.Gly389=) c.771G= (p.Gly257=) c.888G= (p.Gly296=) c.1146G= (p.Gly382=) c.994-3380G= (n.994-3380G=) c.782+4557G= (n.782+4557G=) c.*274G= (n.*274G=) c.*186G= (n.*186G=) c.120G= c.1050G= (p.Gly350=) c.1134G= (p.Gly378=) c.690G= (p.Gly230=) c.983+985G= (n.983+985G=) | |
17 | g.7669624C>G | CA497711207 | TP53 | c.1167G>C (p.Gly389=) c.771G>C (p.Gly257=) c.888G>C (p.Gly296=) c.1146G>C (p.Gly382=) c.994-3380G>C (n.994-3380G>C) c.782+4557G>C (n.782+4557G>C) c.*274G>C (n.*274G>C) c.*186G>C (n.*186G>C) c.120G>C c.1050G>C (p.Gly350=) c.1134G>C (p.Gly378=) c.690G>C (p.Gly230=) c.983+985G>C (n.983+985G>C) | dbSNP |
17 | g.7669624C>T | CA497711209 | TP53 | c.1167G>A (p.Gly389=) c.771G>A (p.Gly257=) c.888G>A (p.Gly296=) c.1146G>A (p.Gly382=) c.994-3380G>A (n.994-3380G>A) c.782+4557G>A (n.782+4557G>A) c.*274G>A (n.*274G>A) c.*186G>A (n.*186G>A) c.120G>A c.1050G>A (p.Gly350=) c.1134G>A (p.Gly378=) c.690G>A (p.Gly230=) c.983+985G>A (n.983+985G>A) | dbSNP |
17 | g.7669626del | CA000670 | TP53 | c.1167del (p.Pro390LeufsTer?) c.771del (p.Pro258LeufsTer?) c.888del (p.Pro297LeufsTer?) c.1146del (p.Pro383LeufsTer?) c.994-3380del (n.994-3380del) c.782+4557del (n.782+4557del) c.*274del (n.*274del) c.*186del (n.*186del) c.120del c.1050del (p.Pro351LeufsTer?) c.1134del (p.Pro379LeufsTer?) c.690del (p.Pro231LeufsTer?) c.983+985del (n.983+985del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7669625C>A | CA397830124 | TP53 | c.1166G>T (p.Gly389Val) c.770G>T (p.Gly257Val) c.887G>T (p.Gly296Val) c.1145G>T (p.Gly382Val) c.994-3381G>T (n.994-3381G>T) c.782+4556G>T (n.782+4556G>T) c.*273G>T (n.*273G>T) c.*185G>T (n.*185G>T) c.119G>T c.1049G>T (p.Gly350Val) c.1133G>T (p.Gly378Val) c.689G>T (p.Gly230Val) c.983+984G>T (n.983+984G>T) | dbSNP COSMIC COSMIC |
17 | g.7669625C>G | CA397830130 | TP53 | c.1166G>C (p.Gly389Ala) c.770G>C (p.Gly257Ala) c.887G>C (p.Gly296Ala) c.1145G>C (p.Gly382Ala) c.994-3381G>C (n.994-3381G>C) c.782+4556G>C (n.782+4556G>C) c.*273G>C (n.*273G>C) c.*185G>C (n.*185G>C) c.119G>C c.1049G>C (p.Gly350Ala) c.1133G>C (p.Gly378Ala) c.689G>C (p.Gly230Ala) c.983+984G>C (n.983+984G>C) | dbSNP |
17 | g.7669625C>T | CA397830146 | TP53 | c.1166G>A (p.Gly389Glu) c.770G>A (p.Gly257Glu) c.887G>A (p.Gly296Glu) c.1145G>A (p.Gly382Glu) c.994-3381G>A (n.994-3381G>A) c.782+4556G>A (n.782+4556G>A) c.*273G>A (n.*273G>A) c.*185G>A (n.*185G>A) c.119G>A c.1049G>A (p.Gly350Glu) c.1133G>A (p.Gly378Glu) c.689G>A (p.Gly230Glu) c.983+984G>A (n.983+984G>A) | dbSNP |
17 | g.7669626C>A | CA000048 | TP53 | c.1165G>T (p.Gly389Trp) c.769G>T (p.Gly257Trp) c.886G>T (p.Gly296Trp) c.1144G>T (p.Gly382Trp) c.994-3382G>T (n.994-3382G>T) c.782+4555G>T (n.782+4555G>T) c.*272G>T (n.*272G>T) c.*184G>T (n.*184G>T) c.118G>T c.1048G>T (p.Gly350Trp) c.1132G>T (p.Gly378Trp) c.688G>T (p.Gly230Trp) c.983+983G>T (n.983+983G>T) | ClinVar dbSNP |
17 | g.7669626C= | CA2245940529 | TP53 | c.1165G= (p.Gly389=) c.769G= (p.Gly257=) c.886G= (p.Gly296=) c.1144G= (p.Gly382=) c.994-3382G= (n.994-3382G=) c.782+4555G= (n.782+4555G=) c.*272G= (n.*272G=) c.*184G= (n.*184G=) c.118G= c.1048G= (p.Gly350=) c.1132G= (p.Gly378=) c.688G= (p.Gly230=) c.983+983G= (n.983+983G=) | |
17 | g.7669626C>G | CA397830168 | TP53 | c.1165G>C (p.Gly389Arg) c.769G>C (p.Gly257Arg) c.886G>C (p.Gly296Arg) c.1144G>C (p.Gly382Arg) c.994-3382G>C (n.994-3382G>C) c.782+4555G>C (n.782+4555G>C) c.*272G>C (n.*272G>C) c.*184G>C (n.*184G>C) c.118G>C c.1048G>C (p.Gly350Arg) c.1132G>C (p.Gly378Arg) c.688G>C (p.Gly230Arg) c.983+983G>C (n.983+983G>C) | dbSNP |
17 | g.7669626C>T | CA397830162 | TP53 | c.1165G>A (p.Gly389Arg) c.769G>A (p.Gly257Arg) c.886G>A (p.Gly296Arg) c.1144G>A (p.Gly382Arg) c.994-3382G>A (n.994-3382G>A) c.782+4555G>A (n.782+4555G>A) c.*272G>A (n.*272G>A) c.*184G>A (n.*184G>A) c.118G>A c.1048G>A (p.Gly350Arg) c.1132G>A (p.Gly378Arg) c.688G>A (p.Gly230Arg) c.983+983G>A (n.983+983G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669627T>A | CA397830173 | TP53 | c.1164A>T (p.Glu388Asp) c.768A>T (p.Glu256Asp) c.885A>T (p.Glu295Asp) c.1143A>T (p.Glu381Asp) c.994-3383A>T (n.994-3383A>T) c.782+4554A>T (n.782+4554A>T) c.*271A>T (n.*271A>T) c.*183A>T (n.*183A>T) c.117A>T c.1047A>T (p.Glu349Asp) c.1131A>T (p.Glu377Asp) c.687A>T (p.Glu229Asp) c.983+982A>T (n.983+982A>T) | ClinVar dbSNP |
17 | g.7669627T>C | CA497711233 | TP53 | c.1164A>G (p.Glu388=) c.768A>G (p.Glu256=) c.885A>G (p.Glu295=) c.1143A>G (p.Glu381=) c.994-3383A>G (n.994-3383A>G) c.782+4554A>G (n.782+4554A>G) c.*271A>G (n.*271A>G) c.*183A>G (n.*183A>G) c.117A>G c.1047A>G (p.Glu349=) c.1131A>G (p.Glu377=) c.687A>G (p.Glu229=) c.983+982A>G (n.983+982A>G) | dbSNP |
17 | g.7669627T>G | CA397830190 | TP53 | c.1164A>C (p.Glu388Asp) c.768A>C (p.Glu256Asp) c.885A>C (p.Glu295Asp) c.1143A>C (p.Glu381Asp) c.994-3383A>C (n.994-3383A>C) c.782+4554A>C (n.782+4554A>C) c.*271A>C (n.*271A>C) c.*183A>C (n.*183A>C) c.117A>C c.1047A>C (p.Glu349Asp) c.1131A>C (p.Glu377Asp) c.687A>C (p.Glu229Asp) c.983+982A>C (n.983+982A>C) | dbSNP gnomAD v4 |
17 | g.7669627T= | CA2245940544 | TP53 | c.1164A= (p.Glu388=) c.768A= (p.Glu256=) c.885A= (p.Glu295=) c.1143A= (p.Glu381=) c.994-3383A= (n.994-3383A=) c.782+4554A= (n.782+4554A=) c.*271A= (n.*271A=) c.*183A= (n.*183A=) c.117A= c.1047A= (p.Glu349=) c.1131A= (p.Glu377=) c.687A= (p.Glu229=) c.983+982A= (n.983+982A=) | |
17 | g.7669628T>A | CA397830199 | TP53 | c.1163A>T (p.Glu388Val) c.767A>T (p.Glu256Val) c.884A>T (p.Glu295Val) c.1142A>T (p.Glu381Val) c.994-3384A>T (n.994-3384A>T) c.782+4553A>T (n.782+4553A>T) c.*270A>T (n.*270A>T) c.*182A>T (n.*182A>T) c.116A>T c.1046A>T (p.Glu349Val) c.1130A>T (p.Glu377Val) c.686A>T (p.Glu229Val) c.983+981A>T (n.983+981A>T) | dbSNP |
17 | g.7669628T>C | CA397830210 | TP53 | c.1163A>G (p.Glu388Gly) c.767A>G (p.Glu256Gly) c.884A>G (p.Glu295Gly) c.1142A>G (p.Glu381Gly) c.994-3384A>G (n.994-3384A>G) c.782+4553A>G (n.782+4553A>G) c.*270A>G (n.*270A>G) c.*182A>G (n.*182A>G) c.116A>G c.1046A>G (p.Glu349Gly) c.1130A>G (p.Glu377Gly) c.686A>G (p.Glu229Gly) c.983+981A>G (n.983+981A>G) | dbSNP |
17 | g.7669628T>G | CA000047 | TP53 | c.1163A>C (p.Glu388Ala) c.767A>C (p.Glu256Ala) c.884A>C (p.Glu295Ala) c.1142A>C (p.Glu381Ala) c.994-3384A>C (n.994-3384A>C) c.782+4553A>C (n.782+4553A>C) c.*270A>C (n.*270A>C) c.*182A>C (n.*182A>C) c.116A>C c.1046A>C (p.Glu349Ala) c.1130A>C (p.Glu377Ala) c.686A>C (p.Glu229Ala) c.983+981A>C (n.983+981A>C) | ClinVar dbSNP gnomAD v4 |
17 | g.7669628T= | CA2245940551 | TP53 | c.1163A= (p.Glu388=) c.767A= (p.Glu256=) c.884A= (p.Glu295=) c.1142A= (p.Glu381=) c.994-3384A= (n.994-3384A=) c.782+4553A= (n.782+4553A=) c.*270A= (n.*270A=) c.*182A= (n.*182A=) c.116A= c.1046A= (p.Glu349=) c.1130A= (p.Glu377=) c.686A= (p.Glu229=) c.983+981A= (n.983+981A=) | |
17 | g.7669629C>A | CA397830218 | TP53 | c.1162G>T (p.Glu388Ter) c.766G>T (p.Glu256Ter) c.883G>T (p.Glu295Ter) c.1141G>T (p.Glu381Ter) c.994-3385G>T (n.994-3385G>T) c.782+4552G>T (n.782+4552G>T) c.*269G>T (n.*269G>T) c.*181G>T (n.*181G>T) c.115G>T c.1045G>T (p.Glu349Ter) c.1129G>T (p.Glu377Ter) c.685G>T (p.Glu229Ter) c.983+980G>T (n.983+980G>T) | |
17 | g.7669629C>G | CA397830223 | TP53 | c.1162G>C (p.Glu388Gln) c.766G>C (p.Glu256Gln) c.883G>C (p.Glu295Gln) c.1141G>C (p.Glu381Gln) c.994-3385G>C (n.994-3385G>C) c.782+4552G>C (n.782+4552G>C) c.*269G>C (n.*269G>C) c.*181G>C (n.*181G>C) c.115G>C c.1045G>C (p.Glu349Gln) c.1129G>C (p.Glu377Gln) c.685G>C (p.Glu229Gln) c.983+980G>C (n.983+980G>C) | ClinVar dbSNP |
17 | g.7669629C>T | CA397830224 | TP53 | c.1162G>A (p.Glu388Lys) c.766G>A (p.Glu256Lys) c.883G>A (p.Glu295Lys) c.1141G>A (p.Glu381Lys) c.994-3385G>A (n.994-3385G>A) c.782+4552G>A (n.782+4552G>A) c.*269G>A (n.*269G>A) c.*181G>A (n.*181G>A) c.115G>A c.1045G>A (p.Glu349Lys) c.1129G>A (p.Glu377Lys) c.685G>A (p.Glu229Lys) c.983+980G>A (n.983+980G>A) | dbSNP |
17 | g.7669630T>A | CA497711254 | TP53 | c.1161A>T (p.Thr387=) c.765A>T (p.Thr255=) c.882A>T (p.Thr294=) c.1140A>T (p.Thr380=) c.994-3386A>T (n.994-3386A>T) c.782+4551A>T (n.782+4551A>T) c.*268A>T (n.*268A>T) c.*180A>T (n.*180A>T) c.114A>T c.1044A>T (p.Thr348=) c.1128A>T (p.Thr376=) c.684A>T (p.Thr228=) c.983+979A>T (n.983+979A>T) | dbSNP |
17 | g.7669630T>C | CA497711256 | TP53 | c.1161A>G (p.Thr387=) c.765A>G (p.Thr255=) c.882A>G (p.Thr294=) c.1140A>G (p.Thr380=) c.994-3386A>G (n.994-3386A>G) c.782+4551A>G (n.782+4551A>G) c.*268A>G (n.*268A>G) c.*180A>G (n.*180A>G) c.114A>G c.1044A>G (p.Thr348=) c.1128A>G (p.Thr376=) c.684A>G (p.Thr228=) c.983+979A>G (n.983+979A>G) | ClinVar dbSNP |
17 | g.7669630T>G | CA497711251 | TP53 | c.1161A>C (p.Thr387=) c.765A>C (p.Thr255=) c.882A>C (p.Thr294=) c.1140A>C (p.Thr380=) c.994-3386A>C (n.994-3386A>C) c.782+4551A>C (n.782+4551A>C) c.*268A>C (n.*268A>C) c.*180A>C (n.*180A>C) c.114A>C c.1044A>C (p.Thr348=) c.1128A>C (p.Thr376=) c.684A>C (p.Thr228=) c.983+979A>C (n.983+979A>C) | |
17 | g.7669630T= | CA2245940558 | TP53 | c.1161A= (p.Thr387=) c.765A= (p.Thr255=) c.882A= (p.Thr294=) c.1140A= (p.Thr380=) c.994-3386A= (n.994-3386A=) c.782+4551A= (n.782+4551A=) c.*268A= (n.*268A=) c.*180A= (n.*180A=) c.114A= c.1044A= (p.Thr348=) c.1128A= (p.Thr376=) c.684A= (p.Thr228=) c.983+979A= (n.983+979A=) | |
17 | g.7669630_7669631delinsTG | CA2245940561 | TP53 | c.1160_1161delinsCA (p.Thr387=) c.764_765delinsCA (p.Thr255=) c.881_882delinsCA (p.Thr294=) c.1139_1140delinsCA (p.Thr380=) c.994-3387_994-3386delinsCA (n.994-3387_994-3386delinsCA) c.782+4550_782+4551delinsCA (n.782+4550_782+4551delinsCA) c.*267_*268delinsCA (n.*267_*268delinsCA) c.*179_*180delinsCA (n.*179_*180delinsCA) c.113_114delinsCA c.1043_1044delinsCA (p.Thr348=) c.1127_1128delinsCA (p.Thr376=) c.683_684delinsCA (p.Thr228=) c.983+978_983+979delinsCA (n.983+978_983+979delinsCA) | |
17 | g.7669631del | CA915949508 | TP53 | c.1160del (p.Thr387LysfsTer?) c.764del (p.Thr255LysfsTer?) c.881del (p.Thr294LysfsTer?) c.1139del (p.Thr380LysfsTer?) c.994-3387del (n.994-3387del) c.782+4550del (n.782+4550del) c.*267del (n.*267del) c.*179del (n.*179del) c.113del c.1043del (p.Thr348LysfsTer?) c.1127del (p.Thr376LysfsTer?) c.683del (p.Thr228LysfsTer?) c.983+978del (n.983+978del) | ClinVar dbSNP |
17 | g.7669631G>A | CA397830225 | TP53 | c.1160C>T (p.Thr387Ile) c.764C>T (p.Thr255Ile) c.881C>T (p.Thr294Ile) c.1139C>T (p.Thr380Ile) c.994-3387C>T (n.994-3387C>T) c.782+4550C>T (n.782+4550C>T) c.*267C>T (n.*267C>T) c.*179C>T (n.*179C>T) c.113C>T c.1043C>T (p.Thr348Ile) c.1127C>T (p.Thr376Ile) c.683C>T (p.Thr228Ile) c.983+978C>T (n.983+978C>T) | dbSNP |
17 | g.7669631G>C | CA287485465 | TP53 | c.1160C>G (p.Thr387Arg) c.764C>G (p.Thr255Arg) c.881C>G (p.Thr294Arg) c.1139C>G (p.Thr380Arg) c.994-3387C>G (n.994-3387C>G) c.782+4550C>G (n.782+4550C>G) c.*267C>G (n.*267C>G) c.*179C>G (n.*179C>G) c.113C>G c.1043C>G (p.Thr348Arg) c.1127C>G (p.Thr376Arg) c.683C>G (p.Thr228Arg) c.983+978C>G (n.983+978C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7669631G= | CA2245940572 | TP53 | c.1160C= (p.Thr387=) c.764C= (p.Thr255=) c.881C= (p.Thr294=) c.1139C= (p.Thr380=) c.994-3387C= (n.994-3387C=) c.782+4550C= (n.782+4550C=) c.*267C= (n.*267C=) c.*179C= (n.*179C=) c.113C= c.1043C= (p.Thr348=) c.1127C= (p.Thr376=) c.683C= (p.Thr228=) c.983+978C= (n.983+978C=) | |
17 | g.7669631G>T | CA397830226 | TP53 | c.1160C>A (p.Thr387Lys) c.764C>A (p.Thr255Lys) c.881C>A (p.Thr294Lys) c.1139C>A (p.Thr380Lys) c.994-3387C>A (n.994-3387C>A) c.782+4550C>A (n.782+4550C>A) c.*267C>A (n.*267C>A) c.*179C>A (n.*179C>A) c.113C>A c.1043C>A (p.Thr348Lys) c.1127C>A (p.Thr376Lys) c.683C>A (p.Thr228Lys) c.983+978C>A (n.983+978C>A) | |
17 | g.7669632T>A | CA397830228 | TP53 | c.1159A>T (p.Thr387Ser) c.763A>T (p.Thr255Ser) c.880A>T (p.Thr294Ser) c.1138A>T (p.Thr380Ser) c.994-3388A>T (n.994-3388A>T) c.782+4549A>T (n.782+4549A>T) c.*266A>T (n.*266A>T) c.*178A>T (n.*178A>T) c.112A>T c.1042A>T (p.Thr348Ser) c.1126A>T (p.Thr376Ser) c.682A>T (p.Thr228Ser) c.983+977A>T (n.983+977A>T) | dbSNP |
17 | g.7669632T>C | CA397830233 | TP53 | c.1159A>G (p.Thr387Ala) c.763A>G (p.Thr255Ala) c.880A>G (p.Thr294Ala) c.1138A>G (p.Thr380Ala) c.994-3388A>G (n.994-3388A>G) c.782+4549A>G (n.782+4549A>G) c.*266A>G (n.*266A>G) c.*178A>G (n.*178A>G) c.112A>G c.1042A>G (p.Thr348Ala) c.1126A>G (p.Thr376Ala) c.682A>G (p.Thr228Ala) c.983+977A>G (n.983+977A>G) | |
17 | g.7669632T>G | CA397830234 | TP53 | c.1159A>C (p.Thr387Pro) c.763A>C (p.Thr255Pro) c.880A>C (p.Thr294Pro) c.1138A>C (p.Thr380Pro) c.994-3388A>C (n.994-3388A>C) c.782+4549A>C (n.782+4549A>C) c.*266A>C (n.*266A>C) c.*178A>C (n.*178A>C) c.112A>C c.1042A>C (p.Thr348Pro) c.1126A>C (p.Thr376Pro) c.682A>C (p.Thr228Pro) c.983+977A>C (n.983+977A>C) | ClinVar dbSNP |
17 | g.7669633C>A | CA397830235 | TP53 | c.1158G>T (p.Lys386Asn) c.762G>T (p.Lys254Asn) c.879G>T (p.Lys293Asn) c.1137G>T (p.Lys379Asn) c.994-3389G>T (n.994-3389G>T) c.782+4548G>T (n.782+4548G>T) c.*265G>T (n.*265G>T) c.*177G>T (n.*177G>T) c.111G>T c.1041G>T (p.Lys347Asn) c.1125G>T (p.Lys375Asn) c.681G>T (p.Lys227Asn) c.983+976G>T (n.983+976G>T) | dbSNP |
17 | g.7669633C>G | CA397830236 | TP53 | c.1158G>C (p.Lys386Asn) c.762G>C (p.Lys254Asn) c.879G>C (p.Lys293Asn) c.1137G>C (p.Lys379Asn) c.994-3389G>C (n.994-3389G>C) c.782+4548G>C (n.782+4548G>C) c.*265G>C (n.*265G>C) c.*177G>C (n.*177G>C) c.111G>C c.1041G>C (p.Lys347Asn) c.1125G>C (p.Lys375Asn) c.681G>C (p.Lys227Asn) c.983+976G>C (n.983+976G>C) | dbSNP COSMIC COSMIC |
17 | g.7669633C>T | CA497711277 | TP53 | c.1158G>A (p.Lys386=) c.762G>A (p.Lys254=) c.879G>A (p.Lys293=) c.1137G>A (p.Lys379=) c.994-3389G>A (n.994-3389G>A) c.782+4548G>A (n.782+4548G>A) c.*265G>A (n.*265G>A) c.*177G>A (n.*177G>A) c.111G>A c.1041G>A (p.Lys347=) c.1125G>A (p.Lys375=) c.681G>A (p.Lys227=) c.983+976G>A (n.983+976G>A) | ClinVar dbSNP |
17 | g.7669634T>A | CA397830252 | TP53 | c.1157A>T (p.Lys386Met) c.761A>T (p.Lys254Met) c.878A>T (p.Lys293Met) c.1136A>T (p.Lys379Met) c.994-3390A>T (n.994-3390A>T) c.782+4547A>T (n.782+4547A>T) c.*264A>T (n.*264A>T) c.*176A>T (n.*176A>T) c.110A>T c.1040A>T (p.Lys347Met) c.1124A>T (p.Lys375Met) c.680A>T (p.Lys227Met) c.983+975A>T (n.983+975A>T) | dbSNP |
17 | g.7669634T>C | CA397830255 | TP53 | c.1157A>G (p.Lys386Arg) c.761A>G (p.Lys254Arg) c.878A>G (p.Lys293Arg) c.1136A>G (p.Lys379Arg) c.994-3390A>G (n.994-3390A>G) c.782+4547A>G (n.782+4547A>G) c.*264A>G (n.*264A>G) c.*176A>G (n.*176A>G) c.110A>G c.1040A>G (p.Lys347Arg) c.1124A>G (p.Lys375Arg) c.680A>G (p.Lys227Arg) c.983+975A>G (n.983+975A>G) | ClinVar dbSNP |
17 | g.7669634T>G | CA397830264 | TP53 | c.1157A>C (p.Lys386Thr) c.761A>C (p.Lys254Thr) c.878A>C (p.Lys293Thr) c.1136A>C (p.Lys379Thr) c.994-3390A>C (n.994-3390A>C) c.782+4547A>C (n.782+4547A>C) c.*264A>C (n.*264A>C) c.*176A>C (n.*176A>C) c.110A>C c.1040A>C (p.Lys347Thr) c.1124A>C (p.Lys375Thr) c.680A>C (p.Lys227Thr) c.983+975A>C (n.983+975A>C) | |
17 | g.7669634T= | CA2245940589 | TP53 | c.1157A= (p.Lys386=) c.761A= (p.Lys254=) c.878A= (p.Lys293=) c.1136A= (p.Lys379=) c.994-3390A= (n.994-3390A=) c.782+4547A= (n.782+4547A=) c.*264A= (n.*264A=) c.*176A= (n.*176A=) c.110A= c.1040A= (p.Lys347=) c.1124A= (p.Lys375=) c.680A= (p.Lys227=) c.983+975A= (n.983+975A=) | |
17 | g.7669635T>A | CA397830269 | TP53 | c.1156A>T (p.Lys386Ter) c.760A>T (p.Lys254Ter) c.877A>T (p.Lys293Ter) c.1135A>T (p.Lys379Ter) c.994-3391A>T (n.994-3391A>T) c.782+4546A>T (n.782+4546A>T) c.*263A>T (n.*263A>T) c.*175A>T (n.*175A>T) c.109A>T c.1039A>T (p.Lys347Ter) c.1123A>T (p.Lys375Ter) c.679A>T (p.Lys227Ter) c.983+974A>T (n.983+974A>T) | |
17 | g.7669635T>C | CA397830271 | TP53 | c.1156A>G (p.Lys386Glu) c.760A>G (p.Lys254Glu) c.877A>G (p.Lys293Glu) c.1135A>G (p.Lys379Glu) c.994-3391A>G (n.994-3391A>G) c.782+4546A>G (n.782+4546A>G) c.*263A>G (n.*263A>G) c.*175A>G (n.*175A>G) c.109A>G c.1039A>G (p.Lys347Glu) c.1123A>G (p.Lys375Glu) c.679A>G (p.Lys227Glu) c.983+974A>G (n.983+974A>G) | gnomAD v4 |
17 | g.7669635T>G | CA397830275 | TP53 | c.1156A>C (p.Lys386Gln) c.760A>C (p.Lys254Gln) c.877A>C (p.Lys293Gln) c.1135A>C (p.Lys379Gln) c.994-3391A>C (n.994-3391A>C) c.782+4546A>C (n.782+4546A>C) c.*263A>C (n.*263A>C) c.*175A>C (n.*175A>C) c.109A>C c.1039A>C (p.Lys347Gln) c.1123A>C (p.Lys375Gln) c.679A>C (p.Lys227Gln) c.983+974A>C (n.983+974A>C) | |
17 | g.7669636G>A | CA497711296 | TP53 | c.1155C>T (p.Phe385=) c.759C>T (p.Phe253=) c.876C>T (p.Phe292=) c.1134C>T (p.Phe378=) c.994-3392C>T (n.994-3392C>T) c.782+4545C>T (n.782+4545C>T) c.*262C>T (n.*262C>T) c.*174C>T (n.*174C>T) c.108C>T c.1038C>T (p.Phe346=) c.1122C>T (p.Phe374=) c.678C>T (p.Phe226=) c.983+973C>T (n.983+973C>T) | ClinVar |
17 | g.7669636G>C | CA397830291 | TP53 | c.1155C>G (p.Phe385Leu) c.759C>G (p.Phe253Leu) c.876C>G (p.Phe292Leu) c.1134C>G (p.Phe378Leu) c.994-3392C>G (n.994-3392C>G) c.782+4545C>G (n.782+4545C>G) c.*262C>G (n.*262C>G) c.*174C>G (n.*174C>G) c.108C>G c.1038C>G (p.Phe346Leu) c.1122C>G (p.Phe374Leu) c.678C>G (p.Phe226Leu) c.983+973C>G (n.983+973C>G) | dbSNP |
17 | g.7669636G>T | CA397830295 | TP53 | c.1155C>A (p.Phe385Leu) c.759C>A (p.Phe253Leu) c.876C>A (p.Phe292Leu) c.1134C>A (p.Phe378Leu) c.994-3392C>A (n.994-3392C>A) c.782+4545C>A (n.782+4545C>A) c.*262C>A (n.*262C>A) c.*174C>A (n.*174C>A) c.108C>A c.1038C>A (p.Phe346Leu) c.1122C>A (p.Phe374Leu) c.678C>A (p.Phe226Leu) c.983+973C>A (n.983+973C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.7669637A>C | CA397830300 | TP53 | c.1154T>G (p.Phe385Cys) c.758T>G (p.Phe253Cys) c.875T>G (p.Phe292Cys) c.1133T>G (p.Phe378Cys) c.994-3393T>G (n.994-3393T>G) c.782+4544T>G (n.782+4544T>G) c.*261T>G (n.*261T>G) c.*173T>G (n.*173T>G) c.107T>G c.1037T>G (p.Phe346Cys) c.1121T>G (p.Phe374Cys) c.677T>G (p.Phe226Cys) c.983+972T>G (n.983+972T>G) | |
17 | g.7669637A>G | CA397830305 | TP53 | c.1154T>C (p.Phe385Ser) c.758T>C (p.Phe253Ser) c.875T>C (p.Phe292Ser) c.1133T>C (p.Phe378Ser) c.994-3393T>C (n.994-3393T>C) c.782+4544T>C (n.782+4544T>C) c.*261T>C (n.*261T>C) c.*173T>C (n.*173T>C) c.107T>C c.1037T>C (p.Phe346Ser) c.1121T>C (p.Phe374Ser) c.677T>C (p.Phe226Ser) c.983+972T>C (n.983+972T>C) | |
17 | g.7669637A>T | CA397830307 | TP53 | c.1154T>A (p.Phe385Tyr) c.758T>A (p.Phe253Tyr) c.875T>A (p.Phe292Tyr) c.1133T>A (p.Phe378Tyr) c.994-3393T>A (n.994-3393T>A) c.782+4544T>A (n.782+4544T>A) c.*261T>A (n.*261T>A) c.*173T>A (n.*173T>A) c.107T>A c.1037T>A (p.Phe346Tyr) c.1121T>A (p.Phe374Tyr) c.677T>A (p.Phe226Tyr) c.983+972T>A (n.983+972T>A) | dbSNP |
17 | g.7669638del | CA645587286 | TP53 | c.1154del (p.Phe385SerfsTer?) c.758del (p.Phe253SerfsTer?) c.875del (p.Phe292SerfsTer?) c.1133del (p.Phe378SerfsTer?) c.994-3393del (n.994-3393del) c.782+4544del (n.782+4544del) c.*261del (n.*261del) c.*173del (n.*173del) c.107del c.1037del (p.Phe346SerfsTer?) c.1121del (p.Phe374SerfsTer?) c.677del (p.Phe226SerfsTer?) c.983+972del (n.983+972del) | gnomAD v4 COSMIC |
17 | g.7669637_7669640delinsAACA | CA2245940591 | TP53 | c.1151_1154delinsTGTT (p.Met384=) c.755_758delinsTGTT (p.Met252=) c.872_875delinsTGTT (p.Met291=) c.1130_1133delinsTGTT (p.Met377=) c.994-3396_994-3393delinsTGTT (n.994-3396_994-3393delinsTGTT) c.782+4541_782+4544delinsTGTT (n.782+4541_782+4544delinsTGTT) c.*258_*261delinsTGTT (n.*258_*261delinsTGTT) c.*170_*173delinsTGTT (n.*170_*173delinsTGTT) c.104_107delinsTGTT c.1034_1037delinsTGTT (p.Met345=) c.1118_1121delinsTGTT (p.Met373=) c.674_677delinsTGTT (p.Met225=) c.983+969_983+972delinsTGTT (n.983+969_983+972delinsTGTT) | |
17 | g.7669638A= | CA2245940601 | TP53 | c.1153T= (p.Phe385=) c.757T= (p.Phe253=) c.874T= (p.Phe292=) c.1132T= (p.Phe378=) c.994-3394T= (n.994-3394T=) c.782+4543T= (n.782+4543T=) c.*260T= (n.*260T=) c.*172T= (n.*172T=) c.106T= c.1036T= (p.Phe346=) c.1120T= (p.Phe374=) c.676T= (p.Phe226=) c.983+971T= (n.983+971T=) | |
17 | g.7669638A>C | CA397830314 | TP53 | c.1153T>G (p.Phe385Val) c.757T>G (p.Phe253Val) c.874T>G (p.Phe292Val) c.1132T>G (p.Phe378Val) c.994-3394T>G (n.994-3394T>G) c.782+4543T>G (n.782+4543T>G) c.*260T>G (n.*260T>G) c.*172T>G (n.*172T>G) c.106T>G c.1036T>G (p.Phe346Val) c.1120T>G (p.Phe374Val) c.676T>G (p.Phe226Val) c.983+971T>G (n.983+971T>G) | dbSNP |
17 | g.7669638A>G | CA397830329 | TP53 | c.1153T>C (p.Phe385Leu) c.757T>C (p.Phe253Leu) c.874T>C (p.Phe292Leu) c.1132T>C (p.Phe378Leu) c.994-3394T>C (n.994-3394T>C) c.782+4543T>C (n.782+4543T>C) c.*260T>C (n.*260T>C) c.*172T>C (n.*172T>C) c.106T>C c.1036T>C (p.Phe346Leu) c.1120T>C (p.Phe374Leu) c.676T>C (p.Phe226Leu) c.983+971T>C (n.983+971T>C) | ClinVar dbSNP |
17 | g.7669638A>T | CA397830319 | TP53 | c.1153T>A (p.Phe385Ile) c.757T>A (p.Phe253Ile) c.874T>A (p.Phe292Ile) c.1132T>A (p.Phe378Ile) c.994-3394T>A (n.994-3394T>A) c.782+4543T>A (n.782+4543T>A) c.*260T>A (n.*260T>A) c.*172T>A (n.*172T>A) c.106T>A c.1036T>A (p.Phe346Ile) c.1120T>A (p.Phe374Ile) c.676T>A (p.Phe226Ile) c.983+971T>A (n.983+971T>A) | dbSNP |
17 | g.7669638_7669640delinsC | CA16620607 | TP53 | c.1151_1153delinsG (p.Met384SerfsTer7) c.755_757delinsG (p.Met252SerfsTer7) c.872_874delinsG (p.Met291SerfsTer7) c.1130_1132delinsG (p.Met377SerfsTer7) c.994-3396_994-3394delinsG (n.994-3396_994-3394delinsG) c.782+4541_782+4543delinsG (n.782+4541_782+4543delinsG) c.*258_*260delinsG (n.*258_*260delinsG) c.*170_*172delinsG (n.*170_*172delinsG) c.104_106delinsG c.1034_1036delinsG (p.Met345SerfsTer7) c.1118_1120delinsG (p.Met373SerfsTer7) c.674_676delinsG (p.Met225SerfsTer7) c.983+969_983+971delinsG (n.983+969_983+971delinsG) | ClinVar dbSNP |
17 | g.7669639C>A | CA397830332 | TP53 | c.1152G>T (p.Met384Ile) c.756G>T (p.Met252Ile) c.873G>T (p.Met291Ile) c.1131G>T (p.Met377Ile) c.994-3395G>T (n.994-3395G>T) c.782+4542G>T (n.782+4542G>T) c.*259G>T (n.*259G>T) c.*171G>T (n.*171G>T) c.105G>T c.1035G>T (p.Met345Ile) c.1119G>T (p.Met373Ile) c.675G>T (p.Met225Ile) c.983+970G>T (n.983+970G>T) | |
17 | g.7669639C= | CA2245940611 | TP53 | c.1152G= (p.Met384=) c.756G= (p.Met252=) c.873G= (p.Met291=) c.1131G= (p.Met377=) c.994-3395G= (n.994-3395G=) c.782+4542G= (n.782+4542G=) c.*259G= (n.*259G=) c.*171G= (n.*171G=) c.105G= c.1035G= (p.Met345=) c.1119G= (p.Met373=) c.675G= (p.Met225=) c.983+970G= (n.983+970G=) | |
17 | g.7669639C>G | CA397830334 | TP53 | c.1152G>C (p.Met384Ile) c.756G>C (p.Met252Ile) c.873G>C (p.Met291Ile) c.1131G>C (p.Met377Ile) c.994-3395G>C (n.994-3395G>C) c.782+4542G>C (n.782+4542G>C) c.*259G>C (n.*259G>C) c.*171G>C (n.*171G>C) c.105G>C c.1035G>C (p.Met345Ile) c.1119G>C (p.Met373Ile) c.675G>C (p.Met225Ile) c.983+970G>C (n.983+970G>C) | dbSNP |
17 | g.7669639C>T | CA397830333 | TP53 | c.1152G>A (p.Met384Ile) c.756G>A (p.Met252Ile) c.873G>A (p.Met291Ile) c.1131G>A (p.Met377Ile) c.994-3395G>A (n.994-3395G>A) c.782+4542G>A (n.782+4542G>A) c.*259G>A (n.*259G>A) c.*171G>A (n.*171G>A) c.105G>A c.1035G>A (p.Met345Ile) c.1119G>A (p.Met373Ile) c.675G>A (p.Met225Ile) c.983+970G>A (n.983+970G>A) | ClinVar dbSNP |
17 | g.7669640A= | CA2245940631 | TP53 | c.1151T= (p.Met384=) c.755T= (p.Met252=) c.872T= (p.Met291=) c.1130T= (p.Met377=) c.994-3396T= (n.994-3396T=) c.782+4541T= (n.782+4541T=) c.*258T= (n.*258T=) c.*170T= (n.*170T=) c.104T= c.1034T= (p.Met345=) c.1118T= (p.Met373=) c.674T= (p.Met225=) c.983+969T= (n.983+969T=) | |
17 | g.7669640A>C | CA397830335 | TP53 | c.1151T>G (p.Met384Arg) c.755T>G (p.Met252Arg) c.872T>G (p.Met291Arg) c.1130T>G (p.Met377Arg) c.994-3396T>G (n.994-3396T>G) c.782+4541T>G (n.782+4541T>G) c.*258T>G (n.*258T>G) c.*170T>G (n.*170T>G) c.104T>G c.1034T>G (p.Met345Arg) c.1118T>G (p.Met373Arg) c.674T>G (p.Met225Arg) c.983+969T>G (n.983+969T>G) | ClinVar dbSNP gnomAD v4 |
17 | g.7669640A>G | CA16615930 | TP53 | c.1151T>C (p.Met384Thr) c.755T>C (p.Met252Thr) c.872T>C (p.Met291Thr) c.1130T>C (p.Met377Thr) c.994-3396T>C (n.994-3396T>C) c.782+4541T>C (n.782+4541T>C) c.*258T>C (n.*258T>C) c.*170T>C (n.*170T>C) c.104T>C c.1034T>C (p.Met345Thr) c.1118T>C (p.Met373Thr) c.674T>C (p.Met225Thr) c.983+969T>C (n.983+969T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669640A>T | CA397830340 | TP53 | c.1151T>A (p.Met384Lys) c.755T>A (p.Met252Lys) c.872T>A (p.Met291Lys) c.1130T>A (p.Met377Lys) c.994-3396T>A (n.994-3396T>A) c.782+4541T>A (n.782+4541T>A) c.*258T>A (n.*258T>A) c.*170T>A (n.*170T>A) c.104T>A c.1034T>A (p.Met345Lys) c.1118T>A (p.Met373Lys) c.674T>A (p.Met225Lys) c.983+969T>A (n.983+969T>A) | dbSNP |
17 | g.7669641T>A | CA397830342 | TP53 | c.1150A>T (p.Met384Leu) c.754A>T (p.Met252Leu) c.871A>T (p.Met291Leu) c.1129A>T (p.Met377Leu) c.994-3397A>T (n.994-3397A>T) c.782+4540A>T (n.782+4540A>T) c.*257A>T (n.*257A>T) c.*169A>T (n.*169A>T) c.103A>T c.1033A>T (p.Met345Leu) c.1117A>T (p.Met373Leu) c.673A>T (p.Met225Leu) c.983+968A>T (n.983+968A>T) | ClinVar dbSNP |
17 | g.7669641T>C | CA000046 | TP53 | c.1150A>G (p.Met384Val) c.754A>G (p.Met252Val) c.871A>G (p.Met291Val) c.1129A>G (p.Met377Val) c.994-3397A>G (n.994-3397A>G) c.782+4540A>G (n.782+4540A>G) c.*257A>G (n.*257A>G) c.*169A>G (n.*169A>G) c.103A>G c.1033A>G (p.Met345Val) c.1117A>G (p.Met373Val) c.673A>G (p.Met225Val) c.983+968A>G (n.983+968A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7669641T>G | CA397830345 | TP53 | c.1150A>C (p.Met384Leu) c.754A>C (p.Met252Leu) c.871A>C (p.Met291Leu) c.1129A>C (p.Met377Leu) c.994-3397A>C (n.994-3397A>C) c.782+4540A>C (n.782+4540A>C) c.*257A>C (n.*257A>C) c.*169A>C (n.*169A>C) c.103A>C c.1033A>C (p.Met345Leu) c.1117A>C (p.Met373Leu) c.673A>C (p.Met225Leu) c.983+968A>C (n.983+968A>C) | gnomAD v4 |
17 | g.7669641T= | CA2245940637 | TP53 | c.1150A= (p.Met384=) c.754A= (p.Met252=) c.871A= (p.Met291=) c.1129A= (p.Met377=) c.994-3397A= (n.994-3397A=) c.782+4540A= (n.782+4540A=) c.*257A= (n.*257A=) c.*169A= (n.*169A=) c.103A= c.1033A= (p.Met345=) c.1117A= (p.Met373=) c.673A= (p.Met225=) c.983+968A= (n.983+968A=) | |
17 | g.7669642_7669648del | CA981207258 | TP53 | c.1144_1150del (p.Lys382CysfsTer?) c.748_754del (p.Lys250CysfsTer?) c.865_871del (p.Lys289CysfsTer?) c.1123_1129del (p.Lys375CysfsTer?) c.994-3403_994-3397del (n.994-3403_994-3397del) c.782+4534_782+4540del (n.782+4534_782+4540del) c.*251_*257del (n.*251_*257del) c.*163_*169del (n.*163_*169del) c.97_103del c.1027_1033del (p.Lys343CysfsTer?) c.1111_1117del (p.Lys371CysfsTer?) c.667_673del (p.Lys223CysfsTer?) c.983+962_983+968del (n.983+962_983+968del) | gnomAD v3 gnomAD v4 |
17 | g.7669642G>A | CA000045 | TP53 | c.1149C>T (p.Leu383=) c.753C>T (p.Leu251=) c.870C>T (p.Leu290=) c.1128C>T (p.Leu376=) c.994-3398C>T (n.994-3398C>T) c.782+4539C>T (n.782+4539C>T) c.*256C>T (n.*256C>T) c.*168C>T (n.*168C>T) c.102C>T c.1032C>T (p.Leu344=) c.1116C>T (p.Leu372=) c.672C>T (p.Leu224=) c.983+967C>T (n.983+967C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669642G>C | CA497711331 | TP53 | c.1149C>G (p.Leu383=) c.753C>G (p.Leu251=) c.870C>G (p.Leu290=) c.1128C>G (p.Leu376=) c.994-3398C>G (n.994-3398C>G) c.782+4539C>G (n.782+4539C>G) c.*256C>G (n.*256C>G) c.*168C>G (n.*168C>G) c.102C>G c.1032C>G (p.Leu344=) c.1116C>G (p.Leu372=) c.672C>G (p.Leu224=) c.983+967C>G (n.983+967C>G) | dbSNP |
17 | g.7669642G= | CA2245940653 | TP53 | c.1149C= (p.Leu383=) c.753C= (p.Leu251=) c.870C= (p.Leu290=) c.1128C= (p.Leu376=) c.994-3398C= (n.994-3398C=) c.782+4539C= (n.782+4539C=) c.*256C= (n.*256C=) c.*168C= (n.*168C=) c.102C= c.1032C= (p.Leu344=) c.1116C= (p.Leu372=) c.672C= (p.Leu224=) c.983+967C= (n.983+967C=) | |
17 | g.7669642G>T | CA497711335 | TP53 | c.1149C>A (p.Leu383=) c.753C>A (p.Leu251=) c.870C>A (p.Leu290=) c.1128C>A (p.Leu376=) c.994-3398C>A (n.994-3398C>A) c.782+4539C>A (n.782+4539C>A) c.*256C>A (n.*256C>A) c.*168C>A (n.*168C>A) c.102C>A c.1032C>A (p.Leu344=) c.1116C>A (p.Leu372=) c.672C>A (p.Leu224=) c.983+967C>A (n.983+967C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669643_7669644del | CA2580094805 | TP53 | c.1148_1149del (p.Leu383HisfsTer8) c.752_753del (p.Leu251HisfsTer8) c.869_870del (p.Leu290HisfsTer8) c.1127_1128del (p.Leu376HisfsTer8) c.994-3399_994-3398del (n.994-3399_994-3398del) c.782+4538_782+4539del (n.782+4538_782+4539del) c.*255_*256del (n.*255_*256del) c.*167_*168del (n.*167_*168del) c.101_102del c.1031_1032del (p.Leu344HisfsTer8) c.1115_1116del (p.Leu372HisfsTer8) c.671_672del (p.Leu224HisfsTer8) c.983+966_983+967del (n.983+966_983+967del) | ClinVar |
17 | g.7669643A= | CA2245940658 | TP53 | c.1148T= (p.Leu383=) c.752T= (p.Leu251=) c.869T= (p.Leu290=) c.1127T= (p.Leu376=) c.994-3399T= (n.994-3399T=) c.782+4538T= (n.782+4538T=) c.*255T= (n.*255T=) c.*167T= (n.*167T=) c.101T= c.1031T= (p.Leu344=) c.1115T= (p.Leu372=) c.671T= (p.Leu224=) c.983+966T= (n.983+966T=) | |
17 | g.7669643A>C | CA397830362 | TP53 | c.1148T>G (p.Leu383Arg) c.752T>G (p.Leu251Arg) c.869T>G (p.Leu290Arg) c.1127T>G (p.Leu376Arg) c.994-3399T>G (n.994-3399T>G) c.782+4538T>G (n.782+4538T>G) c.*255T>G (n.*255T>G) c.*167T>G (n.*167T>G) c.101T>G c.1031T>G (p.Leu344Arg) c.1115T>G (p.Leu372Arg) c.671T>G (p.Leu224Arg) c.983+966T>G (n.983+966T>G) | |
17 | g.7669643A>G | CA397830350 | TP53 | c.1148T>C (p.Leu383Pro) c.752T>C (p.Leu251Pro) c.869T>C (p.Leu290Pro) c.1127T>C (p.Leu376Pro) c.994-3399T>C (n.994-3399T>C) c.782+4538T>C (n.782+4538T>C) c.*255T>C (n.*255T>C) c.*167T>C (n.*167T>C) c.101T>C c.1031T>C (p.Leu344Pro) c.1115T>C (p.Leu372Pro) c.671T>C (p.Leu224Pro) c.983+966T>C (n.983+966T>C) | dbSNP |
17 | g.7669643A>T | CA397830357 | TP53 | c.1148T>A (p.Leu383His) c.752T>A (p.Leu251His) c.869T>A (p.Leu290His) c.1127T>A (p.Leu376His) c.994-3399T>A (n.994-3399T>A) c.782+4538T>A (n.782+4538T>A) c.*255T>A (n.*255T>A) c.*167T>A (n.*167T>A) c.101T>A c.1031T>A (p.Leu344His) c.1115T>A (p.Leu372His) c.671T>A (p.Leu224His) c.983+966T>A (n.983+966T>A) | dbSNP |
17 | g.7669644G>A | CA287485469 | TP53 | c.1147C>T (p.Leu383Phe) c.751C>T (p.Leu251Phe) c.868C>T (p.Leu290Phe) c.1126C>T (p.Leu376Phe) c.994-3400C>T (n.994-3400C>T) c.782+4537C>T (n.782+4537C>T) c.*254C>T (n.*254C>T) c.*166C>T (n.*166C>T) c.100C>T c.1030C>T (p.Leu344Phe) c.1114C>T (p.Leu372Phe) c.670C>T (p.Leu224Phe) c.983+965C>T (n.983+965C>T) | ClinVar dbSNP COSMIC |
17 | g.7669644G>C | CA397830374 | TP53 | c.1147C>G (p.Leu383Val) c.751C>G (p.Leu251Val) c.868C>G (p.Leu290Val) c.1126C>G (p.Leu376Val) c.994-3400C>G (n.994-3400C>G) c.782+4537C>G (n.782+4537C>G) c.*254C>G (n.*254C>G) c.*166C>G (n.*166C>G) c.100C>G c.1030C>G (p.Leu344Val) c.1114C>G (p.Leu372Val) c.670C>G (p.Leu224Val) c.983+965C>G (n.983+965C>G) | |
17 | g.7669644G= | CA2245940663 | TP53 | c.1147C= (p.Leu383=) c.751C= (p.Leu251=) c.868C= (p.Leu290=) c.1126C= (p.Leu376=) c.994-3400C= (n.994-3400C=) c.782+4537C= (n.782+4537C=) c.*254C= (n.*254C=) c.*166C= (n.*166C=) c.100C= c.1030C= (p.Leu344=) c.1114C= (p.Leu372=) c.670C= (p.Leu224=) c.983+965C= (n.983+965C=) | |
17 | g.7669644G>T | CA397830378 | TP53 | c.1147C>A (p.Leu383Ile) c.751C>A (p.Leu251Ile) c.868C>A (p.Leu290Ile) c.1126C>A (p.Leu376Ile) c.994-3400C>A (n.994-3400C>A) c.782+4537C>A (n.782+4537C>A) c.*254C>A (n.*254C>A) c.*166C>A (n.*166C>A) c.100C>A c.1030C>A (p.Leu344Ile) c.1114C>A (p.Leu372Ile) c.670C>A (p.Leu224Ile) c.983+965C>A (n.983+965C>A) | |
17 | g.7669644_7669645delinsGT | CA2245940671 | TP53 | c.1146_1147delinsAC (p.Lys382=) c.750_751delinsAC (p.Lys250=) c.867_868delinsAC (p.Lys289=) c.1125_1126delinsAC (p.Lys375=) c.994-3401_994-3400delinsAC (n.994-3401_994-3400delinsAC) c.782+4536_782+4537delinsAC (n.782+4536_782+4537delinsAC) c.*253_*254delinsAC (n.*253_*254delinsAC) c.*165_*166delinsAC (n.*165_*166delinsAC) c.99_100delinsAC c.1029_1030delinsAC (p.Lys343=) c.1113_1114delinsAC (p.Lys371=) c.669_670delinsAC (p.Lys223=) c.983+964_983+965delinsAC (n.983+964_983+965delinsAC) | |
17 | g.7669645T>A | CA397830393 | TP53 | c.1146A>T (p.Lys382Asn) c.750A>T (p.Lys250Asn) c.867A>T (p.Lys289Asn) c.1125A>T (p.Lys375Asn) c.994-3401A>T (n.994-3401A>T) c.782+4536A>T (n.782+4536A>T) c.*253A>T (n.*253A>T) c.*165A>T (n.*165A>T) c.99A>T c.1029A>T (p.Lys343Asn) c.1113A>T (p.Lys371Asn) c.669A>T (p.Lys223Asn) c.983+964A>T (n.983+964A>T) | dbSNP gnomAD v4 |
17 | g.7669645T>C | CA497711360 | TP53 | c.1146A>G (p.Lys382=) c.750A>G (p.Lys250=) c.867A>G (p.Lys289=) c.1125A>G (p.Lys375=) c.994-3401A>G (n.994-3401A>G) c.782+4536A>G (n.782+4536A>G) c.*253A>G (n.*253A>G) c.*165A>G (n.*165A>G) c.99A>G c.1029A>G (p.Lys343=) c.1113A>G (p.Lys371=) c.669A>G (p.Lys223=) c.983+964A>G (n.983+964A>G) | ClinVar dbSNP gnomAD v4 |
17 | g.7669645T>G | CA397830395 | TP53 | c.1146A>C (p.Lys382Asn) c.750A>C (p.Lys250Asn) c.867A>C (p.Lys289Asn) c.1125A>C (p.Lys375Asn) c.994-3401A>C (n.994-3401A>C) c.782+4536A>C (n.782+4536A>C) c.*253A>C (n.*253A>C) c.*165A>C (n.*165A>C) c.99A>C c.1029A>C (p.Lys343Asn) c.1113A>C (p.Lys371Asn) c.669A>C (p.Lys223Asn) c.983+964A>C (n.983+964A>C) | dbSNP |
17 | g.7669645T= | CA2245940680 | TP53 | c.1146A= (p.Lys382=) c.750A= (p.Lys250=) c.867A= (p.Lys289=) c.1125A= (p.Lys375=) c.994-3401A= (n.994-3401A=) c.782+4536A= (n.782+4536A=) c.*253A= (n.*253A=) c.*165A= (n.*165A=) c.99A= c.1029A= (p.Lys343=) c.1113A= (p.Lys371=) c.669A= (p.Lys223=) c.983+964A= (n.983+964A=) | |
17 | g.7669645_7669646delinsA | CA2740130142 | TP53 | c.1145_1146delinsT (p.Lys382IlefsTer?) c.749_750delinsT (p.Lys250IlefsTer?) c.866_867delinsT (p.Lys289IlefsTer?) c.1124_1125delinsT (p.Lys375IlefsTer?) c.994-3402_994-3401delinsT (n.994-3402_994-3401delinsT) c.782+4535_782+4536delinsT (n.782+4535_782+4536delinsT) c.*252_*253delinsT (n.*252_*253delinsT) c.*164_*165delinsT (n.*164_*165delinsT) c.98_99delinsT c.1028_1029delinsT (p.Lys343IlefsTer?) c.1112_1113delinsT (p.Lys371IlefsTer?) c.668_669delinsT (p.Lys223IlefsTer?) c.983+963_983+964delinsT (n.983+963_983+964delinsT) | |
17 | g.7669650dup | CA2635879089 | TP53 | c.1146dup (p.Leu383ThrfsTer9) c.750dup (p.Leu251ThrfsTer9) c.867dup (p.Leu290ThrfsTer9) c.1125dup (p.Leu376ThrfsTer9) c.994-3401dup (n.994-3401dup) c.782+4536dup (n.782+4536dup) c.*253dup (n.*253dup) c.*165dup (n.*165dup) c.99dup c.1029dup (p.Leu344ThrfsTer9) c.1113dup (p.Leu372ThrfsTer9) c.669dup (p.Leu224ThrfsTer9) c.983+964dup (n.983+964dup) | ClinVar gnomAD v4 |
17 | g.7669650del | CA497711354 | TP53 | c.1146del (p.Lys382AsnfsTer?) c.750del (p.Lys250AsnfsTer?) c.867del (p.Lys289AsnfsTer?) c.1125del (p.Lys375AsnfsTer?) c.994-3401del (n.994-3401del) c.782+4536del (n.782+4536del) c.*253del (n.*253del) c.*165del (n.*165del) c.99del c.1029del (p.Lys343AsnfsTer?) c.1113del (p.Lys371AsnfsTer?) c.669del (p.Lys223AsnfsTer?) c.983+964del (n.983+964del) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
17 | g.7669646T>A | CA397830408 | TP53 | c.1145A>T (p.Lys382Ile) c.749A>T (p.Lys250Ile) c.866A>T (p.Lys289Ile) c.1124A>T (p.Lys375Ile) c.994-3402A>T (n.994-3402A>T) c.782+4535A>T (n.782+4535A>T) c.*252A>T (n.*252A>T) c.*164A>T (n.*164A>T) c.98A>T c.1028A>T (p.Lys343Ile) c.1112A>T (p.Lys371Ile) c.668A>T (p.Lys223Ile) c.983+963A>T (n.983+963A>T) | ClinVar gnomAD v4 |
17 | g.7669646T>C | CA397830396 | TP53 | c.1145A>G (p.Lys382Arg) c.749A>G (p.Lys250Arg) c.866A>G (p.Lys289Arg) c.1124A>G (p.Lys375Arg) c.994-3402A>G (n.994-3402A>G) c.782+4535A>G (n.782+4535A>G) c.*252A>G (n.*252A>G) c.*164A>G (n.*164A>G) c.98A>G c.1028A>G (p.Lys343Arg) c.1112A>G (p.Lys371Arg) c.668A>G (p.Lys223Arg) c.983+963A>G (n.983+963A>G) | |
17 | g.7669646T>G | CA397830397 | TP53 | c.1145A>C (p.Lys382Thr) c.749A>C (p.Lys250Thr) c.866A>C (p.Lys289Thr) c.1124A>C (p.Lys375Thr) c.994-3402A>C (n.994-3402A>C) c.782+4535A>C (n.782+4535A>C) c.*252A>C (n.*252A>C) c.*164A>C (n.*164A>C) c.98A>C c.1028A>C (p.Lys343Thr) c.1112A>C (p.Lys371Thr) c.668A>C (p.Lys223Thr) c.983+963A>C (n.983+963A>C) | ClinVar dbSNP |
17 | g.7669646T= | CA2245940684 | TP53 | c.1145A= (p.Lys382=) c.749A= (p.Lys250=) c.866A= (p.Lys289=) c.1124A= (p.Lys375=) c.994-3402A= (n.994-3402A=) c.782+4535A= (n.782+4535A=) c.*252A= (n.*252A=) c.*164A= (n.*164A=) c.98A= c.1028A= (p.Lys343=) c.1112A= (p.Lys371=) c.668A= (p.Lys223=) c.983+963A= (n.983+963A=) | |
17 | g.7669647T>A | CA397830409 | TP53 | c.1144A>T (p.Lys382Ter) c.748A>T (p.Lys250Ter) c.865A>T (p.Lys289Ter) c.1123A>T (p.Lys375Ter) c.994-3403A>T (n.994-3403A>T) c.782+4534A>T (n.782+4534A>T) c.*251A>T (n.*251A>T) c.*163A>T (n.*163A>T) c.97A>T c.1027A>T (p.Lys343Ter) c.1111A>T (p.Lys371Ter) c.667A>T (p.Lys223Ter) c.983+962A>T (n.983+962A>T) | |
17 | g.7669647T>C | CA397830410 | TP53 | c.1144A>G (p.Lys382Glu) c.748A>G (p.Lys250Glu) c.865A>G (p.Lys289Glu) c.1123A>G (p.Lys375Glu) c.994-3403A>G (n.994-3403A>G) c.782+4534A>G (n.782+4534A>G) c.*251A>G (n.*251A>G) c.*163A>G (n.*163A>G) c.97A>G c.1027A>G (p.Lys343Glu) c.1111A>G (p.Lys371Glu) c.667A>G (p.Lys223Glu) c.983+962A>G (n.983+962A>G) | |
17 | g.7669647T>G | CA397830411 | TP53 | c.1144A>C (p.Lys382Gln) c.748A>C (p.Lys250Gln) c.865A>C (p.Lys289Gln) c.1123A>C (p.Lys375Gln) c.994-3403A>C (n.994-3403A>C) c.782+4534A>C (n.782+4534A>C) c.*251A>C (n.*251A>C) c.*163A>C (n.*163A>C) c.97A>C c.1027A>C (p.Lys343Gln) c.1111A>C (p.Lys371Gln) c.667A>C (p.Lys223Gln) c.983+962A>C (n.983+962A>C) | gnomAD v4 |
17 | g.7669648T>A | CA397830414 | TP53 | c.1143A>T (p.Lys381Asn) c.747A>T (p.Lys249Asn) c.864A>T (p.Lys288Asn) c.1122A>T (p.Lys374Asn) c.994-3404A>T (n.994-3404A>T) c.782+4533A>T (n.782+4533A>T) c.*250A>T (n.*250A>T) c.*162A>T (n.*162A>T) c.96A>T c.1026A>T (p.Lys342Asn) c.1110A>T (p.Lys370Asn) c.666A>T (p.Lys222Asn) c.983+961A>T (n.983+961A>T) | COSMIC COSMIC |
17 | g.7669648T>C | CA497711381 | TP53 | c.1143A>G (p.Lys381=) c.747A>G (p.Lys249=) c.864A>G (p.Lys288=) c.1122A>G (p.Lys374=) c.994-3404A>G (n.994-3404A>G) c.782+4533A>G (n.782+4533A>G) c.*250A>G (n.*250A>G) c.*162A>G (n.*162A>G) c.96A>G c.1026A>G (p.Lys342=) c.1110A>G (p.Lys370=) c.666A>G (p.Lys222=) c.983+961A>G (n.983+961A>G) | |
17 | g.7669648T>G | CA397830422 | TP53 | c.1143A>C (p.Lys381Asn) c.747A>C (p.Lys249Asn) c.864A>C (p.Lys288Asn) c.1122A>C (p.Lys374Asn) c.994-3404A>C (n.994-3404A>C) c.782+4533A>C (n.782+4533A>C) c.*250A>C (n.*250A>C) c.*162A>C (n.*162A>C) c.96A>C c.1026A>C (p.Lys342Asn) c.1110A>C (p.Lys370Asn) c.666A>C (p.Lys222Asn) c.983+961A>C (n.983+961A>C) | |
17 | g.7669649T>A | CA397830435 | TP53 | c.1142A>T (p.Lys381Ile) c.746A>T (p.Lys249Ile) c.863A>T (p.Lys288Ile) c.1121A>T (p.Lys374Ile) c.994-3405A>T (n.994-3405A>T) c.782+4532A>T (n.782+4532A>T) c.*249A>T (n.*249A>T) c.*161A>T (n.*161A>T) c.95A>T c.1025A>T (p.Lys342Ile) c.1109A>T (p.Lys370Ile) c.665A>T (p.Lys222Ile) c.983+960A>T (n.983+960A>T) | dbSNP |
17 | g.7669649T>C | CA397830461 | TP53 | c.1142A>G (p.Lys381Arg) c.746A>G (p.Lys249Arg) c.863A>G (p.Lys288Arg) c.1121A>G (p.Lys374Arg) c.994-3405A>G (n.994-3405A>G) c.782+4532A>G (n.782+4532A>G) c.*249A>G (n.*249A>G) c.*161A>G (n.*161A>G) c.95A>G c.1025A>G (p.Lys342Arg) c.1109A>G (p.Lys370Arg) c.665A>G (p.Lys222Arg) c.983+960A>G (n.983+960A>G) | dbSNP |
17 | g.7669649T>G | CA397830470 | TP53 | c.1142A>C (p.Lys381Thr) c.746A>C (p.Lys249Thr) c.863A>C (p.Lys288Thr) c.1121A>C (p.Lys374Thr) c.994-3405A>C (n.994-3405A>C) c.782+4532A>C (n.782+4532A>C) c.*249A>C (n.*249A>C) c.*161A>C (n.*161A>C) c.95A>C c.1025A>C (p.Lys342Thr) c.1109A>C (p.Lys370Thr) c.665A>C (p.Lys222Thr) c.983+960A>C (n.983+960A>C) | |
17 | g.7669650T>A | CA397830497 | TP53 | c.1141A>T (p.Lys381Ter) c.745A>T (p.Lys249Ter) c.862A>T (p.Lys288Ter) c.1120A>T (p.Lys374Ter) c.994-3406A>T (n.994-3406A>T) c.782+4531A>T (n.782+4531A>T) c.*248A>T (n.*248A>T) c.*160A>T (n.*160A>T) c.94A>T c.1024A>T (p.Lys342Ter) c.1108A>T (p.Lys370Ter) c.664A>T (p.Lys222Ter) c.983+959A>T (n.983+959A>T) | |
17 | g.7669650T>C | CA397830503 | TP53 | c.1141A>G (p.Lys381Glu) c.745A>G (p.Lys249Glu) c.862A>G (p.Lys288Glu) c.1120A>G (p.Lys374Glu) c.994-3406A>G (n.994-3406A>G) c.782+4531A>G (n.782+4531A>G) c.*248A>G (n.*248A>G) c.*160A>G (n.*160A>G) c.94A>G c.1024A>G (p.Lys342Glu) c.1108A>G (p.Lys370Glu) c.664A>G (p.Lys222Glu) c.983+959A>G (n.983+959A>G) | ClinVar dbSNP |
17 | g.7669650T>G | CA397830505 | TP53 | c.1141A>C (p.Lys381Gln) c.745A>C (p.Lys249Gln) c.862A>C (p.Lys288Gln) c.1120A>C (p.Lys374Gln) c.994-3406A>C (n.994-3406A>C) c.782+4531A>C (n.782+4531A>C) c.*248A>C (n.*248A>C) c.*160A>C (n.*160A>C) c.94A>C c.1024A>C (p.Lys342Gln) c.1108A>C (p.Lys370Gln) c.664A>C (p.Lys222Gln) c.983+959A>C (n.983+959A>C) | |
17 | g.7669650T= | CA2245940690 | TP53 | c.1141A= (p.Lys381=) c.745A= (p.Lys249=) c.862A= (p.Lys288=) c.1120A= (p.Lys374=) c.994-3406A= (n.994-3406A=) c.782+4531A= (n.782+4531A=) c.*248A= (n.*248A=) c.*160A= (n.*160A=) c.94A= c.1024A= (p.Lys342=) c.1108A= (p.Lys370=) c.664A= (p.Lys222=) c.983+959A= (n.983+959A=) | |
17 | g.7669650_7669651delinsTA | CA2245940692 | TP53 | c.1140_1141delinsTA (p.His380=) c.744_745delinsTA (p.His248=) c.861_862delinsTA (p.His287=) c.1119_1120delinsTA (p.His373=) c.994-3407_994-3406delinsTA (n.994-3407_994-3406delinsTA) c.782+4530_782+4531delinsTA (n.782+4530_782+4531delinsTA) c.*247_*248delinsTA (n.*247_*248delinsTA) c.*159_*160delinsTA (n.*159_*160delinsTA) c.93_94delinsTA c.1023_1024delinsTA (p.His341=) c.1107_1108delinsTA (p.His369=) c.663_664delinsTA (p.His221=) c.983+958_983+959delinsTA (n.983+958_983+959delinsTA) | |
17 | g.7669651del | CA658656517 | TP53 | c.1140del (p.His380GlnfsTer?) c.744del (p.His248GlnfsTer?) c.861del (p.His287GlnfsTer?) c.1119del (p.His373GlnfsTer?) c.994-3407del (n.994-3407del) c.782+4530del (n.782+4530del) c.*247del (n.*247del) c.*159del (n.*159del) c.93del c.1023del (p.His341GlnfsTer?) c.1107del (p.His369GlnfsTer?) c.663del (p.His221GlnfsTer?) c.983+958del (n.983+958del) | ClinVar dbSNP |
17 | g.7669651A>C | CA397830526 | TP53 | c.1140T>G (p.His380Gln) c.744T>G (p.His248Gln) c.861T>G (p.His287Gln) c.1119T>G (p.His373Gln) c.994-3407T>G (n.994-3407T>G) c.782+4530T>G (n.782+4530T>G) c.*247T>G (n.*247T>G) c.*159T>G (n.*159T>G) c.93T>G c.1023T>G (p.His341Gln) c.1107T>G (p.His369Gln) c.663T>G (p.His221Gln) c.983+958T>G (n.983+958T>G) | |
17 | g.7669651A>G | CA497711395 | TP53 | c.1140T>C (p.His380=) c.744T>C (p.His248=) c.861T>C (p.His287=) c.1119T>C (p.His373=) c.994-3407T>C (n.994-3407T>C) c.782+4530T>C (n.782+4530T>C) c.*247T>C (n.*247T>C) c.*159T>C (n.*159T>C) c.93T>C c.1023T>C (p.His341=) c.1107T>C (p.His369=) c.663T>C (p.His221=) c.983+958T>C (n.983+958T>C) | dbSNP COSMIC |
17 | g.7669651A>T | CA397830530 | TP53 | c.1140T>A (p.His380Gln) c.744T>A (p.His248Gln) c.861T>A (p.His287Gln) c.1119T>A (p.His373Gln) c.994-3407T>A (n.994-3407T>A) c.782+4530T>A (n.782+4530T>A) c.*247T>A (n.*247T>A) c.*159T>A (n.*159T>A) c.93T>A c.1023T>A (p.His341Gln) c.1107T>A (p.His369Gln) c.663T>A (p.His221Gln) c.983+958T>A (n.983+958T>A) | dbSNP |
17 | g.7669651dup | CA913190568 | TP53 | c.1140dup (p.Lys381Ter) c.744dup (p.Lys249Ter) c.861dup (p.Lys288Ter) c.1119dup (p.Lys374Ter) c.994-3407dup (n.994-3407dup) c.782+4530dup (n.782+4530dup) c.*247dup (n.*247dup) c.*159dup (n.*159dup) c.93dup c.1023dup (p.Lys342Ter) c.1107dup (p.Lys370Ter) c.663dup (p.Lys222Ter) c.983+958dup (n.983+958dup) | ClinVar dbSNP |
17 | g.7669651_7669652delinsAT | CA2245940707 | TP53 | c.1139_1140delinsAT (p.His380=) c.743_744delinsAT (p.His248=) c.860_861delinsAT (p.His287=) c.1118_1119delinsAT (p.His373=) c.994-3408_994-3407delinsAT (n.994-3408_994-3407delinsAT) c.782+4529_782+4530delinsAT (n.782+4529_782+4530delinsAT) c.*246_*247delinsAT (n.*246_*247delinsAT) c.*158_*159delinsAT (n.*158_*159delinsAT) c.92_93delinsAT c.1022_1023delinsAT (p.His341=) c.1106_1107delinsAT (p.His369=) c.662_663delinsAT (p.His221=) c.983+957_983+958delinsAT (n.983+957_983+958delinsAT) | |
17 | g.7669652del | CA645369641 | TP53 | c.1139del (p.His380LeufsTer?) c.743del (p.His248LeufsTer?) c.860del (p.His287LeufsTer?) c.1118del (p.His373LeufsTer?) c.994-3408del (n.994-3408del) c.782+4529del (n.782+4529del) c.*246del (n.*246del) c.*158del (n.*158del) c.92del c.1022del (p.His341LeufsTer?) c.1106del (p.His369LeufsTer?) c.662del (p.His221LeufsTer?) c.983+957del (n.983+957del) | ClinVar dbSNP |
17 | g.7669652T>A | CA397830533 | TP53 | c.1139A>T (p.His380Leu) c.743A>T (p.His248Leu) c.860A>T (p.His287Leu) c.1118A>T (p.His373Leu) c.994-3408A>T (n.994-3408A>T) c.782+4529A>T (n.782+4529A>T) c.*246A>T (n.*246A>T) c.*158A>T (n.*158A>T) c.92A>T c.1022A>T (p.His341Leu) c.1106A>T (p.His369Leu) c.662A>T (p.His221Leu) c.983+957A>T (n.983+957A>T) | |
17 | g.7669652T>C | CA397830542 | TP53 | c.1139A>G (p.His380Arg) c.743A>G (p.His248Arg) c.860A>G (p.His287Arg) c.1118A>G (p.His373Arg) c.994-3408A>G (n.994-3408A>G) c.782+4529A>G (n.782+4529A>G) c.*246A>G (n.*246A>G) c.*158A>G (n.*158A>G) c.92A>G c.1022A>G (p.His341Arg) c.1106A>G (p.His369Arg) c.662A>G (p.His221Arg) c.983+957A>G (n.983+957A>G) | ClinVar gnomAD v4 |
17 | g.7669652T>G | CA397830538 | TP53 | c.1139A>C (p.His380Pro) c.743A>C (p.His248Pro) c.860A>C (p.His287Pro) c.1118A>C (p.His373Pro) c.994-3408A>C (n.994-3408A>C) c.782+4529A>C (n.782+4529A>C) c.*246A>C (n.*246A>C) c.*158A>C (n.*158A>C) c.92A>C c.1022A>C (p.His341Pro) c.1106A>C (p.His369Pro) c.662A>C (p.His221Pro) c.983+957A>C (n.983+957A>C) | |
17 | g.7669653G>A | CA397830553 | TP53 | c.1138C>T (p.His380Tyr) c.742C>T (p.His248Tyr) c.859C>T (p.His287Tyr) c.1117C>T (p.His373Tyr) c.994-3409C>T (n.994-3409C>T) c.782+4528C>T (n.782+4528C>T) c.*245C>T (n.*245C>T) c.*157C>T (n.*157C>T) c.91C>T c.1021C>T (p.His341Tyr) c.1105C>T (p.His369Tyr) c.661C>T (p.His221Tyr) c.983+956C>T (n.983+956C>T) | dbSNP COSMIC |
17 | g.7669653G>C | CA397830557 | TP53 | c.1138C>G (p.His380Asp) c.742C>G (p.His248Asp) c.859C>G (p.His287Asp) c.1117C>G (p.His373Asp) c.994-3409C>G (n.994-3409C>G) c.782+4528C>G (n.782+4528C>G) c.*245C>G (n.*245C>G) c.*157C>G (n.*157C>G) c.91C>G c.1021C>G (p.His341Asp) c.1105C>G (p.His369Asp) c.661C>G (p.His221Asp) c.983+956C>G (n.983+956C>G) | dbSNP |
17 | g.7669653G>T | CA397830561 | TP53 | c.1138C>A (p.His380Asn) c.742C>A (p.His248Asn) c.859C>A (p.His287Asn) c.1117C>A (p.His373Asn) c.994-3409C>A (n.994-3409C>A) c.782+4528C>A (n.782+4528C>A) c.*245C>A (n.*245C>A) c.*157C>A (n.*157C>A) c.91C>A c.1021C>A (p.His341Asn) c.1105C>A (p.His369Asn) c.661C>A (p.His221Asn) c.983+956C>A (n.983+956C>A) | |
17 | g.7669654G>A | CA000044 | TP53 | c.1137C>T (p.Arg379=) c.741C>T (p.Arg247=) c.858C>T (p.Arg286=) c.1116C>T (p.Arg372=) c.994-3410C>T (n.994-3410C>T) c.782+4527C>T (n.782+4527C>T) c.*244C>T (n.*244C>T) c.*156C>T (n.*156C>T) c.90C>T c.1020C>T (p.Arg340=) c.1104C>T (p.Arg368=) c.660C>T (p.Arg220=) c.983+955C>T (n.983+955C>T) | ClinVar dbSNP |
17 | g.7669654G>C | CA497711413 | TP53 | c.1137C>G (p.Arg379=) c.741C>G (p.Arg247=) c.858C>G (p.Arg286=) c.1116C>G (p.Arg372=) c.994-3410C>G (n.994-3410C>G) c.782+4527C>G (n.782+4527C>G) c.*244C>G (n.*244C>G) c.*156C>G (n.*156C>G) c.90C>G c.1020C>G (p.Arg340=) c.1104C>G (p.Arg368=) c.660C>G (p.Arg220=) c.983+955C>G (n.983+955C>G) | dbSNP |
17 | g.7669654G= | CA2245940720 | TP53 | c.1137C= (p.Arg379=) c.741C= (p.Arg247=) c.858C= (p.Arg286=) c.1116C= (p.Arg372=) c.994-3410C= (n.994-3410C=) c.782+4527C= (n.782+4527C=) c.*244C= (n.*244C=) c.*156C= (n.*156C=) c.90C= c.1020C= (p.Arg340=) c.1104C= (p.Arg368=) c.660C= (p.Arg220=) c.983+955C= (n.983+955C=) | |
17 | g.7669654G>T | CA497711416 | TP53 | c.1137C>A (p.Arg379=) c.741C>A (p.Arg247=) c.858C>A (p.Arg286=) c.1116C>A (p.Arg372=) c.994-3410C>A (n.994-3410C>A) c.782+4527C>A (n.782+4527C>A) c.*244C>A (n.*244C>A) c.*156C>A (n.*156C>A) c.90C>A c.1020C>A (p.Arg340=) c.1104C>A (p.Arg368=) c.660C>A (p.Arg220=) c.983+955C>A (n.983+955C>A) | dbSNP |
17 | g.7669655C>A | CA338506 | TP53 | c.1136G>T (p.Arg379Leu) c.740G>T (p.Arg247Leu) c.857G>T (p.Arg286Leu) c.1115G>T (p.Arg372Leu) c.994-3411G>T (n.994-3411G>T) c.782+4526G>T (n.782+4526G>T) c.*243G>T (n.*243G>T) c.*155G>T (n.*155G>T) c.89G>T c.1019G>T (p.Arg340Leu) c.1103G>T (p.Arg368Leu) c.659G>T (p.Arg220Leu) c.983+954G>T (n.983+954G>T) | ClinVar dbSNP gnomAD v4 |
17 | g.7669655C= | CA2245940740 | TP53 | c.1136G= (p.Arg379=) c.740G= (p.Arg247=) c.857G= (p.Arg286=) c.1115G= (p.Arg372=) c.994-3411G= (n.994-3411G=) c.782+4526G= (n.782+4526G=) c.*243G= (n.*243G=) c.*155G= (n.*155G=) c.89G= c.1019G= (p.Arg340=) c.1103G= (p.Arg368=) c.659G= (p.Arg220=) c.983+954G= (n.983+954G=) | |
17 | g.7669655C>G | CA397830571 | TP53 | c.1136G>C (p.Arg379Pro) c.740G>C (p.Arg247Pro) c.857G>C (p.Arg286Pro) c.1115G>C (p.Arg372Pro) c.994-3411G>C (n.994-3411G>C) c.782+4526G>C (n.782+4526G>C) c.*243G>C (n.*243G>C) c.*155G>C (n.*155G>C) c.89G>C c.1019G>C (p.Arg340Pro) c.1103G>C (p.Arg368Pro) c.659G>C (p.Arg220Pro) c.983+954G>C (n.983+954G>C) | COSMIC |
17 | g.7669655C>T | CA10584584 | TP53 | c.1136G>A (p.Arg379His) c.740G>A (p.Arg247His) c.857G>A (p.Arg286His) c.1115G>A (p.Arg372His) c.994-3411G>A (n.994-3411G>A) c.782+4526G>A (n.782+4526G>A) c.*243G>A (n.*243G>A) c.*155G>A (n.*155G>A) c.89G>A c.1019G>A (p.Arg340His) c.1103G>A (p.Arg368His) c.659G>A (p.Arg220His) c.983+954G>A (n.983+954G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.7669655_7669656delinsCG | CA2245940748 | TP53 | c.1135_1136delinsCG (p.Arg379=) c.739_740delinsCG (p.Arg247=) c.856_857delinsCG (p.Arg286=) c.1114_1115delinsCG (p.Arg372=) c.994-3412_994-3411delinsCG (n.994-3412_994-3411delinsCG) c.782+4525_782+4526delinsCG (n.782+4525_782+4526delinsCG) c.*242_*243delinsCG (n.*242_*243delinsCG) c.*154_*155delinsCG (n.*154_*155delinsCG) c.88_89delinsCG c.1018_1019delinsCG (p.Arg340=) c.1102_1103delinsCG (p.Arg368=) c.658_659delinsCG (p.Arg220=) c.983+953_983+954delinsCG (n.983+953_983+954delinsCG) | |
17 | g.7669656G>A | CA000043 | TP53 | c.1135C>T (p.Arg379Cys) c.739C>T (p.Arg247Cys) c.856C>T (p.Arg286Cys) c.1114C>T (p.Arg372Cys) c.994-3412C>T (n.994-3412C>T) c.782+4525C>T (n.782+4525C>T) c.*242C>T (n.*242C>T) c.*154C>T (n.*154C>T) c.88C>T c.1018C>T (p.Arg340Cys) c.1102C>T (p.Arg368Cys) c.658C>T (p.Arg220Cys) c.983+953C>T (n.983+953C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.7669656G>C | CA397830588 | TP53 | c.1135C>G (p.Arg379Gly) c.739C>G (p.Arg247Gly) c.856C>G (p.Arg286Gly) c.1114C>G (p.Arg372Gly) c.994-3412C>G (n.994-3412C>G) c.782+4525C>G (n.782+4525C>G) c.*242C>G (n.*242C>G) c.*154C>G (n.*154C>G) c.88C>G c.1018C>G (p.Arg340Gly) c.1102C>G (p.Arg368Gly) c.658C>G (p.Arg220Gly) c.983+953C>G (n.983+953C>G) | dbSNP |
17 | g.7669656G= | CA2245940761 | TP53 | c.1135C= (p.Arg379=) c.739C= (p.Arg247=) c.856C= (p.Arg286=) c.1114C= (p.Arg372=) c.994-3412C= (n.994-3412C=) c.782+4525C= (n.782+4525C=) c.*242C= (n.*242C=) c.*154C= (n.*154C=) c.88C= c.1018C= (p.Arg340=) c.1102C= (p.Arg368=) c.658C= (p.Arg220=) c.983+953C= (n.983+953C=) | |
17 | g.7669656G>T | CA000042 | TP53 | c.1135C>A (p.Arg379Ser) c.739C>A (p.Arg247Ser) c.856C>A (p.Arg286Ser) c.1114C>A (p.Arg372Ser) c.994-3412C>A (n.994-3412C>A) c.782+4525C>A (n.782+4525C>A) c.*242C>A (n.*242C>A) c.*154C>A (n.*154C>A) c.88C>A c.1018C>A (p.Arg340Ser) c.1102C>A (p.Arg368Ser) c.658C>A (p.Arg220Ser) c.983+953C>A (n.983+953C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7669658_7669659insGGGGG | CA624725479 | TP53 | c.1135_1136insCCCCC (p.Arg379ProfsTer?) c.739_740insCCCCC (p.Arg247ProfsTer?) c.856_857insCCCCC (p.Arg286ProfsTer?) c.1114_1115insCCCCC (p.Arg372ProfsTer?) c.994-3412_994-3411insCCCCC (n.994-3412_994-3411insCCCCC) c.782+4525_782+4526insCCCCC (n.782+4525_782+4526insCCCCC) c.*242_*243insCCCCC (n.*242_*243insCCCCC) c.*154_*155insCCCCC (n.*154_*155insCCCCC) c.88_89insCCCCC c.1018_1019insCCCCC (p.Arg340ProfsTer?) c.1102_1103insCCCCC (p.Arg368ProfsTer?) c.658_659insCCCCC (p.Arg220ProfsTer?) c.983+953_983+954insCCCCC (n.983+953_983+954insCCCCC) | gnomAD v2 |
17 | g.7669658del | CA2245940756 | TP53 | c.1135del (p.Arg379AlafsTer?) c.739del (p.Arg247AlafsTer?) c.856del (p.Arg286AlafsTer?) c.1114del (p.Arg372AlafsTer?) c.994-3412del (n.994-3412del) c.782+4525del (n.782+4525del) c.*242del (n.*242del) c.*154del (n.*154del) c.88del c.1018del (p.Arg340AlafsTer?) c.1102del (p.Arg368AlafsTer?) c.658del (p.Arg220AlafsTer?) c.983+953del (n.983+953del) | ClinVar dbSNP |
17 | g.7669657G>A | CA16615684 | TP53 | c.1134C>T (p.Ser378=) c.738C>T (p.Ser246=) c.855C>T (p.Ser285=) c.1113C>T (p.Ser371=) c.994-3413C>T (n.994-3413C>T) c.782+4524C>T (n.782+4524C>T) c.*241C>T (n.*241C>T) c.*153C>T (n.*153C>T) c.87C>T c.1017C>T (p.Ser339=) c.1101C>T (p.Ser367=) c.657C>T (p.Ser219=) c.983+952C>T (n.983+952C>T) | ClinVar dbSNP |
17 | g.7669657G>C | CA497711434 | TP53 | c.1134C>G (p.Ser378=) c.738C>G (p.Ser246=) c.855C>G (p.Ser285=) c.1113C>G (p.Ser371=) c.994-3413C>G (n.994-3413C>G) c.782+4524C>G (n.782+4524C>G) c.*241C>G (n.*241C>G) c.*153C>G (n.*153C>G) c.87C>G c.1017C>G (p.Ser339=) c.1101C>G (p.Ser367=) c.657C>G (p.Ser219=) c.983+952C>G (n.983+952C>G) | dbSNP |
17 | g.7669657G= | CA2245940783 | TP53 | c.1134C= (p.Ser378=) c.738C= (p.Ser246=) c.855C= (p.Ser285=) c.1113C= (p.Ser371=) c.994-3413C= (n.994-3413C=) c.782+4524C= (n.782+4524C=) c.*241C= (n.*241C=) c.*153C= (n.*153C=) c.87C= c.1017C= (p.Ser339=) c.1101C= (p.Ser367=) c.657C= (p.Ser219=) c.983+952C= (n.983+952C=) | |
17 | g.7669657G>T | CA497711436 | TP53 | c.1134C>A (p.Ser378=) c.738C>A (p.Ser246=) c.855C>A (p.Ser285=) c.1113C>A (p.Ser371=) c.994-3413C>A (n.994-3413C>A) c.782+4524C>A (n.782+4524C>A) c.*241C>A (n.*241C>A) c.*153C>A (n.*153C>A) c.87C>A c.1017C>A (p.Ser339=) c.1101C>A (p.Ser367=) c.657C>A (p.Ser219=) c.983+952C>A (n.983+952C>A) | dbSNP |
17 | g.7669658G>A | CA397830598 | TP53 | c.1133C>T (p.Ser378Phe) c.737C>T (p.Ser246Phe) c.854C>T (p.Ser285Phe) c.1112C>T (p.Ser371Phe) c.994-3414C>T (n.994-3414C>T) c.782+4523C>T (n.782+4523C>T) c.*240C>T (n.*240C>T) c.*152C>T (n.*152C>T) c.86C>T c.1016C>T (p.Ser339Phe) c.1100C>T (p.Ser367Phe) c.656C>T (p.Ser219Phe) c.983+951C>T (n.983+951C>T) | dbSNP COSMIC COSMIC |
17 | g.7669658G>C | CA397830603 | TP53 | c.1133C>G (p.Ser378Cys) c.737C>G (p.Ser246Cys) c.854C>G (p.Ser285Cys) c.1112C>G (p.Ser371Cys) c.994-3414C>G (n.994-3414C>G) c.782+4523C>G (n.782+4523C>G) c.*240C>G (n.*240C>G) c.*152C>G (n.*152C>G) c.86C>G c.1016C>G (p.Ser339Cys) c.1100C>G (p.Ser367Cys) c.656C>G (p.Ser219Cys) c.983+951C>G (n.983+951C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7669658G= | CA2245940792 | TP53 | c.1133C= (p.Ser378=) c.737C= (p.Ser246=) c.854C= (p.Ser285=) c.1112C= (p.Ser371=) c.994-3414C= (n.994-3414C=) c.782+4523C= (n.782+4523C=) c.*240C= (n.*240C=) c.*152C= (n.*152C=) c.86C= c.1016C= (p.Ser339=) c.1100C= (p.Ser367=) c.656C= (p.Ser219=) c.983+951C= (n.983+951C=) | |
17 | g.7669658G>T | CA397830605 | TP53 | c.1133C>A (p.Ser378Tyr) c.737C>A (p.Ser246Tyr) c.854C>A (p.Ser285Tyr) c.1112C>A (p.Ser371Tyr) c.994-3414C>A (n.994-3414C>A) c.782+4523C>A (n.782+4523C>A) c.*240C>A (n.*240C>A) c.*152C>A (n.*152C>A) c.86C>A c.1016C>A (p.Ser339Tyr) c.1100C>A (p.Ser367Tyr) c.656C>A (p.Ser219Tyr) c.983+951C>A (n.983+951C>A) | dbSNP |
17 | g.7669659A= | CA2245940802 | TP53 | c.1132T= (p.Ser378=) c.736T= (p.Ser246=) c.853T= (p.Ser285=) c.1111T= (p.Ser371=) c.994-3415T= (n.994-3415T=) c.782+4522T= (n.782+4522T=) c.*239T= (n.*239T=) c.*151T= (n.*151T=) c.85T= c.1015T= (p.Ser339=) c.1099T= (p.Ser367=) c.655T= (p.Ser219=) c.983+950T= (n.983+950T=) | |
17 | g.7669659A>C | CA397830612 | TP53 | c.1132T>G (p.Ser378Ala) c.736T>G (p.Ser246Ala) c.853T>G (p.Ser285Ala) c.1111T>G (p.Ser371Ala) c.994-3415T>G (n.994-3415T>G) c.782+4522T>G (n.782+4522T>G) c.*239T>G (n.*239T>G) c.*151T>G (n.*151T>G) c.85T>G c.1015T>G (p.Ser339Ala) c.1099T>G (p.Ser367Ala) c.655T>G (p.Ser219Ala) c.983+950T>G (n.983+950T>G) | |
17 | g.7669659A>G | CA000671 | TP53 | c.1132T>C (p.Ser378Pro) c.736T>C (p.Ser246Pro) c.853T>C (p.Ser285Pro) c.1111T>C (p.Ser371Pro) c.994-3415T>C (n.994-3415T>C) c.782+4522T>C (n.782+4522T>C) c.*239T>C (n.*239T>C) c.*151T>C (n.*151T>C) c.85T>C c.1015T>C (p.Ser339Pro) c.1099T>C (p.Ser367Pro) c.655T>C (p.Ser219Pro) c.983+950T>C (n.983+950T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669659A>T | CA397830609 | TP53 | c.1132T>A (p.Ser378Thr) c.736T>A (p.Ser246Thr) c.853T>A (p.Ser285Thr) c.1111T>A (p.Ser371Thr) c.994-3415T>A (n.994-3415T>A) c.782+4522T>A (n.782+4522T>A) c.*239T>A (n.*239T>A) c.*151T>A (n.*151T>A) c.85T>A c.1015T>A (p.Ser339Thr) c.1099T>A (p.Ser367Thr) c.655T>A (p.Ser219Thr) c.983+950T>A (n.983+950T>A) | dbSNP |
17 | g.7669660G>A | CA497711452 | TP53 | c.1131C>T (p.Thr377=) c.735C>T (p.Thr245=) c.852C>T (p.Thr284=) c.1110C>T (p.Thr370=) c.994-3416C>T (n.994-3416C>T) c.782+4521C>T (n.782+4521C>T) c.*238C>T (n.*238C>T) c.*150C>T (n.*150C>T) c.84C>T c.1014C>T (p.Thr338=) c.1098C>T (p.Thr366=) c.654C>T (p.Thr218=) c.983+949C>T (n.983+949C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.7669660G>C | CA497711455 | TP53 | c.1131C>G (p.Thr377=) c.735C>G (p.Thr245=) c.852C>G (p.Thr284=) c.1110C>G (p.Thr370=) c.994-3416C>G (n.994-3416C>G) c.782+4521C>G (n.782+4521C>G) c.*238C>G (n.*238C>G) c.*150C>G (n.*150C>G) c.84C>G c.1014C>G (p.Thr338=) c.1098C>G (p.Thr366=) c.654C>G (p.Thr218=) c.983+949C>G (n.983+949C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.7669660G= | CA2245940814 | TP53 | c.1131C= (p.Thr377=) c.735C= (p.Thr245=) c.852C= (p.Thr284=) c.1110C= (p.Thr370=) c.994-3416C= (n.994-3416C=) c.782+4521C= (n.782+4521C=) c.*238C= (n.*238C=) c.*150C= (n.*150C=) c.84C= c.1014C= (p.Thr338=) c.1098C= (p.Thr366=) c.654C= (p.Thr218=) c.983+949C= (n.983+949C=) | |
17 | g.7669660G>T | CA497711458 | TP53 | c.1131C>A (p.Thr377=) c.735C>A (p.Thr245=) c.852C>A (p.Thr284=) c.1110C>A (p.Thr370=) c.994-3416C>A (n.994-3416C>A) c.782+4521C>A (n.782+4521C>A) c.*238C>A (n.*238C>A) c.*150C>A (n.*150C>A) c.84C>A c.1014C>A (p.Thr338=) c.1098C>A (p.Thr366=) c.654C>A (p.Thr218=) c.983+949C>A (n.983+949C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.7669661G>A | CA397830619 | TP53 | c.1130C>T (p.Thr377Ile) c.734C>T (p.Thr245Ile) c.851C>T (p.Thr284Ile) c.1109C>T (p.Thr370Ile) c.994-3417C>T (n.994-3417C>T) c.782+4520C>T (n.782+4520C>T) c.*237C>T (n.*237C>T) c.*149C>T (n.*149C>T) c.83C>T c.1013C>T (p.Thr338Ile) c.1097C>T (p.Thr366Ile) c.653C>T (p.Thr218Ile) c.983+948C>T (n.983+948C>T) | ClinVar dbSNP COSMIC |
17 | g.7669661G>C | CA397830621 | TP53 | c.1130C>G (p.Thr377Ser) c.734C>G (p.Thr245Ser) c.851C>G (p.Thr284Ser) c.1109C>G (p.Thr370Ser) c.994-3417C>G (n.994-3417C>G) c.782+4520C>G (n.782+4520C>G) c.*237C>G (n.*237C>G) c.*149C>G (n.*149C>G) c.83C>G c.1013C>G (p.Thr338Ser) c.1097C>G (p.Thr366Ser) c.653C>G (p.Thr218Ser) c.983+948C>G (n.983+948C>G) | dbSNP |
17 | g.7669661G= | CA2245940833 | TP53 | c.1130C= (p.Thr377=) c.734C= (p.Thr245=) c.851C= (p.Thr284=) c.1109C= (p.Thr370=) c.994-3417C= (n.994-3417C=) c.782+4520C= (n.782+4520C=) c.*237C= (n.*237C=) c.*149C= (n.*149C=) c.83C= c.1013C= (p.Thr338=) c.1097C= (p.Thr366=) c.653C= (p.Thr218=) c.983+948C= (n.983+948C=) | |
17 | g.7669661G>T | CA397830625 | TP53 | c.1130C>A (p.Thr377Asn) c.734C>A (p.Thr245Asn) c.851C>A (p.Thr284Asn) c.1109C>A (p.Thr370Asn) c.994-3417C>A (n.994-3417C>A) c.782+4520C>A (n.782+4520C>A) c.*237C>A (n.*237C>A) c.*149C>A (n.*149C>A) c.83C>A c.1013C>A (p.Thr338Asn) c.1097C>A (p.Thr366Asn) c.653C>A (p.Thr218Asn) c.983+948C>A (n.983+948C>A) | |
17 | g.7669661_7669662delinsGT | CA2245940830 | TP53 | c.1129_1130delinsAC (p.Thr377=) c.733_734delinsAC (p.Thr245=) c.850_851delinsAC (p.Thr284=) c.1108_1109delinsAC (p.Thr370=) c.994-3418_994-3417delinsAC (n.994-3418_994-3417delinsAC) c.782+4519_782+4520delinsAC (n.782+4519_782+4520delinsAC) c.*236_*237delinsAC (n.*236_*237delinsAC) c.*148_*149delinsAC (n.*148_*149delinsAC) c.82_83delinsAC c.1012_1013delinsAC (p.Thr338=) c.1096_1097delinsAC (p.Thr366=) c.652_653delinsAC (p.Thr218=) c.983+947_983+948delinsAC (n.983+947_983+948delinsAC) | |
17 | g.7669662del | CA000672 | TP53 | c.1129del (p.Thr377ProfsTer?) c.733del (p.Thr245ProfsTer?) c.850del (p.Thr284ProfsTer?) c.1108del (p.Thr370ProfsTer?) c.994-3418del (n.994-3418del) c.782+4519del (n.782+4519del) c.*236del (n.*236del) c.*148del (n.*148del) c.82del c.1012del (p.Thr338ProfsTer?) c.1096del (p.Thr366ProfsTer?) c.652del (p.Thr218ProfsTer?) c.983+947del (n.983+947del) | dbSNP ExAC |
17 | g.7669662T>A | CA397830630 | TP53 | c.1129A>T (p.Thr377Ser) c.733A>T (p.Thr245Ser) c.850A>T (p.Thr284Ser) c.1108A>T (p.Thr370Ser) c.994-3418A>T (n.994-3418A>T) c.782+4519A>T (n.782+4519A>T) c.*236A>T (n.*236A>T) c.*148A>T (n.*148A>T) c.82A>T c.1012A>T (p.Thr338Ser) c.1096A>T (p.Thr366Ser) c.652A>T (p.Thr218Ser) c.983+947A>T (n.983+947A>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.7669662T>C | CA397830631 | TP53 | c.1129A>G (p.Thr377Ala) c.733A>G (p.Thr245Ala) c.850A>G (p.Thr284Ala) c.1108A>G (p.Thr370Ala) c.994-3418A>G (n.994-3418A>G) c.782+4519A>G (n.782+4519A>G) c.*236A>G (n.*236A>G) c.*148A>G (n.*148A>G) c.82A>G c.1012A>G (p.Thr338Ala) c.1096A>G (p.Thr366Ala) c.652A>G (p.Thr218Ala) c.983+947A>G (n.983+947A>G) | ClinVar dbSNP |
17 | g.7669662T>G | CA000673 | TP53 | c.1129A>C (p.Thr377Pro) c.733A>C (p.Thr245Pro) c.850A>C (p.Thr284Pro) c.1108A>C (p.Thr370Pro) c.994-3418A>C (n.994-3418A>C) c.782+4519A>C (n.782+4519A>C) c.*236A>C (n.*236A>C) c.*148A>C (n.*148A>C) c.82A>C c.1012A>C (p.Thr338Pro) c.1096A>C (p.Thr366Pro) c.652A>C (p.Thr218Pro) c.983+947A>C (n.983+947A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669662T= | CA2245940856 | TP53 | c.1129A= (p.Thr377=) c.733A= (p.Thr245=) c.850A= (p.Thr284=) c.1108A= (p.Thr370=) c.994-3418A= (n.994-3418A=) c.782+4519A= (n.782+4519A=) c.*236A= (n.*236A=) c.*148A= (n.*148A=) c.82A= c.1012A= (p.Thr338=) c.1096A= (p.Thr366=) c.652A= (p.Thr218=) c.983+947A= (n.983+947A=) | |
17 | g.7669663A= | CA2245940871 | TP53 | c.1128T= (p.Ser376=) c.732T= (p.Ser244=) c.849T= (p.Ser283=) c.1107T= (p.Ser369=) c.994-3419T= (n.994-3419T=) c.782+4518T= (n.782+4518T=) c.*235T= (n.*235T=) c.*147T= (n.*147T=) c.81T= c.1011T= (p.Ser337=) c.1095T= (p.Ser365=) c.651T= (p.Ser217=) c.983+946T= (n.983+946T=) | |
17 | g.7669663A>C | CA497711472 | TP53 | c.1128T>G (p.Ser376=) c.732T>G (p.Ser244=) c.849T>G (p.Ser283=) c.1107T>G (p.Ser369=) c.994-3419T>G (n.994-3419T>G) c.782+4518T>G (n.782+4518T>G) c.*235T>G (n.*235T>G) c.*147T>G (n.*147T>G) c.81T>G c.1011T>G (p.Ser337=) c.1095T>G (p.Ser365=) c.651T>G (p.Ser217=) c.983+946T>G (n.983+946T>G) | |
17 | g.7669663A>G | CA000674 | TP53 | c.1128T>C (p.Ser376=) c.732T>C (p.Ser244=) c.849T>C (p.Ser283=) c.1107T>C (p.Ser369=) c.994-3419T>C (n.994-3419T>C) c.782+4518T>C (n.782+4518T>C) c.*235T>C (n.*235T>C) c.*147T>C (n.*147T>C) c.81T>C c.1011T>C (p.Ser337=) c.1095T>C (p.Ser365=) c.651T>C (p.Ser217=) c.983+946T>C (n.983+946T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7669663A>T | CA497711476 | TP53 | c.1128T>A (p.Ser376=) c.732T>A (p.Ser244=) c.849T>A (p.Ser283=) c.1107T>A (p.Ser369=) c.994-3419T>A (n.994-3419T>A) c.782+4518T>A (n.782+4518T>A) c.*235T>A (n.*235T>A) c.*147T>A (n.*147T>A) c.81T>A c.1011T>A (p.Ser337=) c.1095T>A (p.Ser365=) c.651T>A (p.Ser217=) c.983+946T>A (n.983+946T>A) | dbSNP |
17 | g.7669664G>A | CA397830633 | TP53 | c.1127C>T (p.Ser376Phe) c.731C>T (p.Ser244Phe) c.848C>T (p.Ser283Phe) c.1106C>T (p.Ser369Phe) c.994-3420C>T (n.994-3420C>T) c.782+4517C>T (n.782+4517C>T) c.*234C>T (n.*234C>T) c.*146C>T (n.*146C>T) c.80C>T c.1010C>T (p.Ser337Phe) c.1094C>T (p.Ser365Phe) c.650C>T (p.Ser217Phe) c.983+945C>T (n.983+945C>T) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7669664G>C | CA397830636 | TP53 | c.1127C>G (p.Ser376Cys) c.731C>G (p.Ser244Cys) c.848C>G (p.Ser283Cys) c.1106C>G (p.Ser369Cys) c.994-3420C>G (n.994-3420C>G) c.782+4517C>G (n.782+4517C>G) c.*234C>G (n.*234C>G) c.*146C>G (n.*146C>G) c.80C>G c.1010C>G (p.Ser337Cys) c.1094C>G (p.Ser365Cys) c.650C>G (p.Ser217Cys) c.983+945C>G (n.983+945C>G) | dbSNP COSMIC COSMIC |
17 | g.7669664G= | CA2245940883 | TP53 | c.1127C= (p.Ser376=) c.731C= (p.Ser244=) c.848C= (p.Ser283=) c.1106C= (p.Ser369=) c.994-3420C= (n.994-3420C=) c.782+4517C= (n.782+4517C=) c.*234C= (n.*234C=) c.*146C= (n.*146C=) c.80C= c.1010C= (p.Ser337=) c.1094C= (p.Ser365=) c.650C= (p.Ser217=) c.983+945C= (n.983+945C=) | |
17 | g.7669664G>T | CA397830645 | TP53 | c.1127C>A (p.Ser376Tyr) c.731C>A (p.Ser244Tyr) c.848C>A (p.Ser283Tyr) c.1106C>A (p.Ser369Tyr) c.994-3420C>A (n.994-3420C>A) c.782+4517C>A (n.782+4517C>A) c.*234C>A (n.*234C>A) c.*146C>A (n.*146C>A) c.80C>A c.1010C>A (p.Ser337Tyr) c.1094C>A (p.Ser365Tyr) c.650C>A (p.Ser217Tyr) c.983+945C>A (n.983+945C>A) | dbSNP |
17 | g.7669665A= | CA2245940900 | TP53 | c.1126T= (p.Ser376=) c.730T= (p.Ser244=) c.847T= (p.Ser283=) c.1105T= (p.Ser369=) c.994-3421T= (n.994-3421T=) c.782+4516T= (n.782+4516T=) c.*233T= (n.*233T=) c.*145T= (n.*145T=) c.79T= c.1009T= (p.Ser337=) c.1093T= (p.Ser365=) c.649T= (p.Ser217=) c.983+944T= (n.983+944T=) | |
17 | g.7669665A>C | CA397830653 | TP53 | c.1126T>G (p.Ser376Ala) c.730T>G (p.Ser244Ala) c.847T>G (p.Ser283Ala) c.1105T>G (p.Ser369Ala) c.994-3421T>G (n.994-3421T>G) c.782+4516T>G (n.782+4516T>G) c.*233T>G (n.*233T>G) c.*145T>G (n.*145T>G) c.79T>G c.1009T>G (p.Ser337Ala) c.1093T>G (p.Ser365Ala) c.649T>G (p.Ser217Ala) c.983+944T>G (n.983+944T>G) | COSMIC |
17 | g.7669665A>G | CA397830655 | TP53 | c.1126T>C (p.Ser376Pro) c.730T>C (p.Ser244Pro) c.847T>C (p.Ser283Pro) c.1105T>C (p.Ser369Pro) c.994-3421T>C (n.994-3421T>C) c.782+4516T>C (n.782+4516T>C) c.*233T>C (n.*233T>C) c.*145T>C (n.*145T>C) c.79T>C c.1009T>C (p.Ser337Pro) c.1093T>C (p.Ser365Pro) c.649T>C (p.Ser217Pro) c.983+944T>C (n.983+944T>C) | dbSNP |
17 | g.7669665A>T | CA397830654 | TP53 | c.1126T>A (p.Ser376Thr) c.730T>A (p.Ser244Thr) c.847T>A (p.Ser283Thr) c.1105T>A (p.Ser369Thr) c.994-3421T>A (n.994-3421T>A) c.782+4516T>A (n.782+4516T>A) c.*233T>A (n.*233T>A) c.*145T>A (n.*145T>A) c.79T>A c.1009T>A (p.Ser337Thr) c.1093T>A (p.Ser365Thr) c.649T>A (p.Ser217Thr) c.983+944T>A (n.983+944T>A) | COSMIC |
17 | g.7669665dup | CA645587287 | TP53 | c.1126dup (p.Ser376PhefsTer6) c.730dup (p.Ser244PhefsTer6) c.847dup (p.Ser283PhefsTer6) c.1105dup (p.Ser369PhefsTer6) c.994-3421dup (n.994-3421dup) c.782+4516dup (n.782+4516dup) c.*233dup (n.*233dup) c.*145dup (n.*145dup) c.79dup c.1009dup (p.Ser337PhefsTer6) c.1093dup (p.Ser365PhefsTer6) c.649dup (p.Ser217PhefsTer6) c.983+944dup (n.983+944dup) | COSMIC COSMIC |
17 | g.7669665_7669666delinsAC | CA2245940896 | TP53 | c.1125_1126delinsGT (p.Gln375=) c.729_730delinsGT (p.Gln243=) c.846_847delinsGT (p.Gln282=) c.1104_1105delinsGT (p.Gln368=) c.994-3422_994-3421delinsGT (n.994-3422_994-3421delinsGT) c.782+4515_782+4516delinsGT (n.782+4515_782+4516delinsGT) c.*232_*233delinsGT (n.*232_*233delinsGT) c.*144_*145delinsGT (n.*144_*145delinsGT) c.78_79delinsGT c.1008_1009delinsGT (p.Gln336=) c.1092_1093delinsGT (p.Gln364=) c.648_649delinsGT (p.Gln216=) c.983+943_983+944delinsGT (n.983+943_983+944delinsGT) | |
17 | g.7669666del | CA000041 | TP53 | c.1125del (p.Gln375HisfsTer?) c.729del (p.Gln243HisfsTer?) c.846del (p.Gln282HisfsTer?) c.1104del (p.Gln368HisfsTer?) c.994-3422del (n.994-3422del) c.782+4515del (n.782+4515del) c.*232del (n.*232del) c.*144del (n.*144del) c.78del c.1008del (p.Gln336HisfsTer?) c.1092del (p.Gln364HisfsTer?) c.648del (p.Gln216HisfsTer?) c.983+943del (n.983+943del) | ClinVar dbSNP |
17 | g.7669666C>A | CA397830656 | TP53 | c.1125G>T (p.Gln375His) c.729G>T (p.Gln243His) c.846G>T (p.Gln282His) c.1104G>T (p.Gln368His) c.994-3422G>T (n.994-3422G>T) c.782+4515G>T (n.782+4515G>T) c.*232G>T (n.*232G>T) c.*144G>T (n.*144G>T) c.78G>T c.1008G>T (p.Gln336His) c.1092G>T (p.Gln364His) c.648G>T (p.Gln216His) c.983+943G>T (n.983+943G>T) | ClinVar dbSNP gnomAD v4 |
17 | g.7669666C= | CA2245940916 | TP53 | c.1125G= (p.Gln375=) c.729G= (p.Gln243=) c.846G= (p.Gln282=) c.1104G= (p.Gln368=) c.994-3422G= (n.994-3422G=) c.782+4515G= (n.782+4515G=) c.*232G= (n.*232G=) c.*144G= (n.*144G=) c.78G= c.1008G= (p.Gln336=) c.1092G= (p.Gln364=) c.648G= (p.Gln216=) c.983+943G= (n.983+943G=) | |
17 | g.7669666C>G | CA397830664 | TP53 | c.1125G>C (p.Gln375His) c.729G>C (p.Gln243His) c.846G>C (p.Gln282His) c.1104G>C (p.Gln368His) c.994-3422G>C (n.994-3422G>C) c.782+4515G>C (n.782+4515G>C) c.*232G>C (n.*232G>C) c.*144G>C (n.*144G>C) c.78G>C c.1008G>C (p.Gln336His) c.1092G>C (p.Gln364His) c.648G>C (p.Gln216His) c.983+943G>C (n.983+943G>C) | dbSNP |
17 | g.7669666C>T | CA000675 | TP53 | c.1125G>A (p.Gln375=) c.729G>A (p.Gln243=) c.846G>A (p.Gln282=) c.1104G>A (p.Gln368=) c.994-3422G>A (n.994-3422G>A) c.782+4515G>A (n.782+4515G>A) c.*232G>A (n.*232G>A) c.*144G>A (n.*144G>A) c.78G>A c.1008G>A (p.Gln336=) c.1092G>A (p.Gln364=) c.648G>A (p.Gln216=) c.983+943G>A (n.983+943G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7669667T>A | CA397830665 | TP53 | c.1124A>T (p.Gln375Leu) c.728A>T (p.Gln243Leu) c.845A>T (p.Gln282Leu) c.1103A>T (p.Gln368Leu) c.994-3423A>T (n.994-3423A>T) c.782+4514A>T (n.782+4514A>T) c.*231A>T (n.*231A>T) c.*143A>T (n.*143A>T) c.77A>T c.1007A>T (p.Gln336Leu) c.1091A>T (p.Gln364Leu) c.647A>T (p.Gln216Leu) c.983+942A>T (n.983+942A>T) | |
17 | g.7669667T>C | CA397830666 | TP53 | c.1124A>G (p.Gln375Arg) c.728A>G (p.Gln243Arg) c.845A>G (p.Gln282Arg) c.1103A>G (p.Gln368Arg) c.994-3423A>G (n.994-3423A>G) c.782+4514A>G (n.782+4514A>G) c.*231A>G (n.*231A>G) c.*143A>G (n.*143A>G) c.77A>G c.1007A>G (p.Gln336Arg) c.1091A>G (p.Gln364Arg) c.647A>G (p.Gln216Arg) c.983+942A>G (n.983+942A>G) | dbSNP |
17 | g.7669667T>G | CA397830668 | TP53 | c.1124A>C (p.Gln375Pro) c.728A>C (p.Gln243Pro) c.845A>C (p.Gln282Pro) c.1103A>C (p.Gln368Pro) c.994-3423A>C (n.994-3423A>C) c.782+4514A>C (n.782+4514A>C) c.*231A>C (n.*231A>C) c.*143A>C (n.*143A>C) c.77A>C c.1007A>C (p.Gln336Pro) c.1091A>C (p.Gln364Pro) c.647A>C (p.Gln216Pro) c.983+942A>C (n.983+942A>C) | |
17 | g.7669668G>A | CA397830670 | TP53 | c.1123C>T (p.Gln375Ter) c.727C>T (p.Gln243Ter) c.844C>T (p.Gln282Ter) c.1102C>T (p.Gln368Ter) c.994-3424C>T (n.994-3424C>T) c.782+4513C>T (n.782+4513C>T) c.*230C>T (n.*230C>T) c.*142C>T (n.*142C>T) c.76C>T c.1006C>T (p.Gln336Ter) c.1090C>T (p.Gln364Ter) c.646C>T (p.Gln216Ter) c.983+941C>T (n.983+941C>T) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7669668G>C | CA397830674 | TP53 | c.1123C>G (p.Gln375Glu) c.727C>G (p.Gln243Glu) c.844C>G (p.Gln282Glu) c.1102C>G (p.Gln368Glu) c.994-3424C>G (n.994-3424C>G) c.782+4513C>G (n.782+4513C>G) c.*230C>G (n.*230C>G) c.*142C>G (n.*142C>G) c.76C>G c.1006C>G (p.Gln336Glu) c.1090C>G (p.Gln364Glu) c.646C>G (p.Gln216Glu) c.983+941C>G (n.983+941C>G) | dbSNP |
17 | g.7669668G= | CA2245940929 | TP53 | c.1123C= (p.Gln375=) c.727C= (p.Gln243=) c.844C= (p.Gln282=) c.1102C= (p.Gln368=) c.994-3424C= (n.994-3424C=) c.782+4513C= (n.782+4513C=) c.*230C= (n.*230C=) c.*142C= (n.*142C=) c.76C= c.1006C= (p.Gln336=) c.1090C= (p.Gln364=) c.646C= (p.Gln216=) c.983+941C= (n.983+941C=) | |
17 | g.7669668G>T | CA397830678 | TP53 | c.1123C>A (p.Gln375Lys) c.727C>A (p.Gln243Lys) c.844C>A (p.Gln282Lys) c.1102C>A (p.Gln368Lys) c.994-3424C>A (n.994-3424C>A) c.782+4513C>A (n.782+4513C>A) c.*230C>A (n.*230C>A) c.*142C>A (n.*142C>A) c.76C>A c.1006C>A (p.Gln336Lys) c.1090C>A (p.Gln364Lys) c.646C>A (p.Gln216Lys) c.983+941C>A (n.983+941C>A) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7669668_7669669insC | CA645587288 | TP53 | c.1122_1123insG (p.Gln375AlafsTer7) c.726_727insG (p.Gln243AlafsTer7) c.843_844insG (p.Gln282AlafsTer7) c.1101_1102insG (p.Gln368AlafsTer7) c.994-3425_994-3424insG (n.994-3425_994-3424insG) c.782+4512_782+4513insG (n.782+4512_782+4513insG) c.*229_*230insG (n.*229_*230insG) c.*141_*142insG (n.*141_*142insG) c.75_76insG c.1005_1006insG (p.Gln336AlafsTer7) c.1089_1090insG (p.Gln364AlafsTer7) c.645_646insG (p.Gln216AlafsTer7) c.983+940_983+941insG (n.983+940_983+941insG) | COSMIC COSMIC |
17 | g.7669669A>C | CA497711506 | TP53 | c.1122T>G (p.Gly374=) c.726T>G (p.Gly242=) c.843T>G (p.Gly281=) c.1101T>G (p.Gly367=) c.994-3425T>G (n.994-3425T>G) c.782+4512T>G (n.782+4512T>G) c.*229T>G (n.*229T>G) c.*141T>G (n.*141T>G) c.75T>G c.1005T>G (p.Gly335=) c.1089T>G (p.Gly363=) c.645T>G (p.Gly215=) c.983+940T>G (n.983+940T>G) | |
17 | g.7669669A>G | CA497711508 | TP53 | c.1122T>C (p.Gly374=) c.726T>C (p.Gly242=) c.843T>C (p.Gly281=) c.1101T>C (p.Gly367=) c.994-3425T>C (n.994-3425T>C) c.782+4512T>C (n.782+4512T>C) c.*229T>C (n.*229T>C) c.*141T>C (n.*141T>C) c.75T>C c.1005T>C (p.Gly335=) c.1089T>C (p.Gly363=) c.645T>C (p.Gly215=) c.983+940T>C (n.983+940T>C) | |
17 | g.7669669A>T | CA497711510 | TP53 | c.1122T>A (p.Gly374=) c.726T>A (p.Gly242=) c.843T>A (p.Gly281=) c.1101T>A (p.Gly367=) c.994-3425T>A (n.994-3425T>A) c.782+4512T>A (n.782+4512T>A) c.*229T>A (n.*229T>A) c.*141T>A (n.*141T>A) c.75T>A c.1005T>A (p.Gly335=) c.1089T>A (p.Gly363=) c.645T>A (p.Gly215=) c.983+940T>A (n.983+940T>A) | |
17 | g.7669669_7669670delinsAC | CA2245940939 | TP53 | c.1121_1122delinsGT (p.Gly374=) c.725_726delinsGT (p.Gly242=) c.842_843delinsGT (p.Gly281=) c.1100_1101delinsGT (p.Gly367=) c.994-3426_994-3425delinsGT (n.994-3426_994-3425delinsGT) c.782+4511_782+4512delinsGT (n.782+4511_782+4512delinsGT) c.*228_*229delinsGT (n.*228_*229delinsGT) c.*140_*141delinsGT (n.*140_*141delinsGT) c.74_75delinsGT c.1004_1005delinsGT (p.Gly335=) c.1088_1089delinsGT (p.Gly363=) c.644_645delinsGT (p.Gly215=) c.983+939_983+940delinsGT (n.983+939_983+940delinsGT) | |
17 | g.7669669_7669670insG | CA497711521 | TP53 | c.1121_1122insC (p.Gln375SerfsTer7) c.725_726insC (p.Gln243SerfsTer7) c.842_843insC (p.Gln282SerfsTer7) c.1100_1101insC (p.Gln368SerfsTer7) c.994-3426_994-3425insC (n.994-3426_994-3425insC) c.782+4511_782+4512insC (n.782+4511_782+4512insC) c.*228_*229insC (n.*228_*229insC) c.*140_*141insC (n.*140_*141insC) c.74_75insC c.1004_1005insC (p.Gln336SerfsTer7) c.1088_1089insC (p.Gln364SerfsTer7) c.644_645insC (p.Gln216SerfsTer7) c.983+939_983+940insC (n.983+939_983+940insC) | |
17 | g.7669670C>A | CA397830698 | TP53 | c.1121G>T (p.Gly374Val) c.725G>T (p.Gly242Val) c.842G>T (p.Gly281Val) c.1100G>T (p.Gly367Val) c.994-3426G>T (n.994-3426G>T) c.782+4511G>T (n.782+4511G>T) c.*228G>T (n.*228G>T) c.*140G>T (n.*140G>T) c.74G>T c.1004G>T (p.Gly335Val) c.1088G>T (p.Gly363Val) c.644G>T (p.Gly215Val) c.983+939G>T (n.983+939G>T) | ClinVar |
17 | g.7669670C>G | CA397830706 | TP53 | c.1121G>C (p.Gly374Ala) c.725G>C (p.Gly242Ala) c.842G>C (p.Gly281Ala) c.1100G>C (p.Gly367Ala) c.994-3426G>C (n.994-3426G>C) c.782+4511G>C (n.782+4511G>C) c.*228G>C (n.*228G>C) c.*140G>C (n.*140G>C) c.74G>C c.1004G>C (p.Gly335Ala) c.1088G>C (p.Gly363Ala) c.644G>C (p.Gly215Ala) c.983+939G>C (n.983+939G>C) | |
17 | g.7669670C>T | CA397830708 | TP53 | c.1121G>A (p.Gly374Asp) c.725G>A (p.Gly242Asp) c.842G>A (p.Gly281Asp) c.1100G>A (p.Gly367Asp) c.994-3426G>A (n.994-3426G>A) c.782+4511G>A (n.782+4511G>A) c.*228G>A (n.*228G>A) c.*140G>A (n.*140G>A) c.74G>A c.1004G>A (p.Gly335Asp) c.1088G>A (p.Gly363Asp) c.644G>A (p.Gly215Asp) c.983+939G>A (n.983+939G>A) | ClinVar |
17 | g.7669672del | CA10583672 | TP53 | c.1121del (p.Gly374ValfsTer?) c.725del (p.Gly242ValfsTer?) c.842del (p.Gly281ValfsTer?) c.1100del (p.Gly367ValfsTer?) c.994-3426del (n.994-3426del) c.782+4511del (n.782+4511del) c.*228del (n.*228del) c.*140del (n.*140del) c.74del c.1004del (p.Gly335ValfsTer?) c.1088del (p.Gly363ValfsTer?) c.644del (p.Gly215ValfsTer?) c.983+939del (n.983+939del) | ClinVar dbSNP |
17 | g.7669671C>A | CA000676 | TP53 | c.1120G>T (p.Gly374Cys) c.724G>T (p.Gly242Cys) c.841G>T (p.Gly281Cys) c.1099G>T (p.Gly367Cys) c.994-3427G>T (n.994-3427G>T) c.782+4510G>T (n.782+4510G>T) c.*227G>T (n.*227G>T) c.*139G>T (n.*139G>T) c.73G>T c.1003G>T (p.Gly335Cys) c.1087G>T (p.Gly363Cys) c.643G>T (p.Gly215Cys) c.983+938G>T (n.983+938G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.7669671C= | CA2245940945 | TP53 | c.1120G= (p.Gly374=) c.724G= (p.Gly242=) c.841G= (p.Gly281=) c.1099G= (p.Gly367=) c.994-3427G= (n.994-3427G=) c.782+4510G= (n.782+4510G=) c.*227G= (n.*227G=) c.*139G= (n.*139G=) c.73G= c.1003G= (p.Gly335=) c.1087G= (p.Gly363=) c.643G= (p.Gly215=) c.983+938G= (n.983+938G=) | |
17 | g.7669671C>G | CA000677 | TP53 | c.1120G>C (p.Gly374Arg) c.724G>C (p.Gly242Arg) c.841G>C (p.Gly281Arg) c.1099G>C (p.Gly367Arg) c.994-3427G>C (n.994-3427G>C) c.782+4510G>C (n.782+4510G>C) c.*227G>C (n.*227G>C) c.*139G>C (n.*139G>C) c.73G>C c.1003G>C (p.Gly335Arg) c.1087G>C (p.Gly363Arg) c.643G>C (p.Gly215Arg) c.983+938G>C (n.983+938G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669671C>T | CA000040 | TP53 | c.1120G>A (p.Gly374Ser) c.724G>A (p.Gly242Ser) c.841G>A (p.Gly281Ser) c.1099G>A (p.Gly367Ser) c.994-3427G>A (n.994-3427G>A) c.782+4510G>A (n.782+4510G>A) c.*227G>A (n.*227G>A) c.*139G>A (n.*139G>A) c.73G>A c.1003G>A (p.Gly335Ser) c.1087G>A (p.Gly363Ser) c.643G>A (p.Gly215Ser) c.983+938G>A (n.983+938G>A) | ClinVar dbSNP |
17 | g.7669672C>A | CA397830719 | TP53 | c.1119G>T (p.Lys373Asn) c.723G>T (p.Lys241Asn) c.840G>T (p.Lys280Asn) c.1098G>T (p.Lys366Asn) c.994-3428G>T (n.994-3428G>T) c.782+4509G>T (n.782+4509G>T) c.*226G>T (n.*226G>T) c.*138G>T (n.*138G>T) c.72G>T c.1002G>T (p.Lys334Asn) c.1086G>T (p.Lys362Asn) c.642G>T (p.Lys214Asn) c.983+937G>T (n.983+937G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.7669672C= | CA2245940965 | TP53 | c.1119G= (p.Lys373=) c.723G= (p.Lys241=) c.840G= (p.Lys280=) c.1098G= (p.Lys366=) c.994-3428G= (n.994-3428G=) c.782+4509G= (n.782+4509G=) c.*226G= (n.*226G=) c.*138G= (n.*138G=) c.72G= c.1002G= (p.Lys334=) c.1086G= (p.Lys362=) c.642G= (p.Lys214=) c.983+937G= (n.983+937G=) | |
17 | g.7669672C>G | CA397830720 | TP53 | c.1119G>C (p.Lys373Asn) c.723G>C (p.Lys241Asn) c.840G>C (p.Lys280Asn) c.1098G>C (p.Lys366Asn) c.994-3428G>C (n.994-3428G>C) c.782+4509G>C (n.782+4509G>C) c.*226G>C (n.*226G>C) c.*138G>C (n.*138G>C) c.72G>C c.1002G>C (p.Lys334Asn) c.1086G>C (p.Lys362Asn) c.642G>C (p.Lys214Asn) c.983+937G>C (n.983+937G>C) | |
17 | g.7669672C>T | CA497711533 | TP53 | c.1119G>A (p.Lys373=) c.723G>A (p.Lys241=) c.840G>A (p.Lys280=) c.1098G>A (p.Lys366=) c.994-3428G>A (n.994-3428G>A) c.782+4509G>A (n.782+4509G>A) c.*226G>A (n.*226G>A) c.*138G>A (n.*138G>A) c.72G>A c.1002G>A (p.Lys334=) c.1086G>A (p.Lys362=) c.642G>A (p.Lys214=) c.983+937G>A (n.983+937G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669673T>A | CA397830722 | TP53 | c.1118A>T (p.Lys373Met) c.722A>T (p.Lys241Met) c.839A>T (p.Lys280Met) c.1097A>T (p.Lys366Met) c.994-3429A>T (n.994-3429A>T) c.782+4508A>T (n.782+4508A>T) c.*225A>T (n.*225A>T) c.*137A>T (n.*137A>T) c.71A>T c.1001A>T (p.Lys334Met) c.1085A>T (p.Lys362Met) c.641A>T (p.Lys214Met) c.983+936A>T (n.983+936A>T) | ClinVar dbSNP |
17 | g.7669673T>C | CA397830723 | TP53 | c.1118A>G (p.Lys373Arg) c.722A>G (p.Lys241Arg) c.839A>G (p.Lys280Arg) c.1097A>G (p.Lys366Arg) c.994-3429A>G (n.994-3429A>G) c.782+4508A>G (n.782+4508A>G) c.*225A>G (n.*225A>G) c.*137A>G (n.*137A>G) c.71A>G c.1001A>G (p.Lys334Arg) c.1085A>G (p.Lys362Arg) c.641A>G (p.Lys214Arg) c.983+936A>G (n.983+936A>G) | ClinVar dbSNP COSMIC |
17 | g.7669673T>G | CA397830724 | TP53 | c.1118A>C (p.Lys373Thr) c.722A>C (p.Lys241Thr) c.839A>C (p.Lys280Thr) c.1097A>C (p.Lys366Thr) c.994-3429A>C (n.994-3429A>C) c.782+4508A>C (n.782+4508A>C) c.*225A>C (n.*225A>C) c.*137A>C (n.*137A>C) c.71A>C c.1001A>C (p.Lys334Thr) c.1085A>C (p.Lys362Thr) c.641A>C (p.Lys214Thr) c.983+936A>C (n.983+936A>C) | dbSNP |
17 | g.7669673T= | CA2245940976 | TP53 | c.1118A= (p.Lys373=) c.722A= (p.Lys241=) c.839A= (p.Lys280=) c.1097A= (p.Lys366=) c.994-3429A= (n.994-3429A=) c.782+4508A= (n.782+4508A=) c.*225A= (n.*225A=) c.*137A= (n.*137A=) c.71A= c.1001A= (p.Lys334=) c.1085A= (p.Lys362=) c.641A= (p.Lys214=) c.983+936A= (n.983+936A=) | |
17 | g.7669677del | CA891842218 | TP53 | c.1118del (p.Lys373ArgfsTer?) c.722del (p.Lys241ArgfsTer?) c.839del (p.Lys280ArgfsTer?) c.1097del (p.Lys366ArgfsTer?) c.994-3429del (n.994-3429del) c.782+4508del (n.782+4508del) c.*225del (n.*225del) c.*137del (n.*137del) c.71del c.1001del (p.Lys334ArgfsTer?) c.1085del (p.Lys362ArgfsTer?) c.641del (p.Lys214ArgfsTer?) c.983+936del (n.983+936del) | ClinVar dbSNP gnomAD v4 |
17 | g.7669674T>A | CA397830727 | TP53 | c.1117A>T (p.Lys373Ter) c.721A>T (p.Lys241Ter) c.838A>T (p.Lys280Ter) c.1096A>T (p.Lys366Ter) c.994-3430A>T (n.994-3430A>T) c.782+4507A>T (n.782+4507A>T) c.*224A>T (n.*224A>T) c.*136A>T (n.*136A>T) c.70A>T c.1000A>T (p.Lys334Ter) c.1084A>T (p.Lys362Ter) c.640A>T (p.Lys214Ter) c.983+935A>T (n.983+935A>T) | |
17 | g.7669674T>C | CA397830729 | TP53 | c.1117A>G (p.Lys373Glu) c.721A>G (p.Lys241Glu) c.838A>G (p.Lys280Glu) c.1096A>G (p.Lys366Glu) c.994-3430A>G (n.994-3430A>G) c.782+4507A>G (n.782+4507A>G) c.*224A>G (n.*224A>G) c.*136A>G (n.*136A>G) c.70A>G c.1000A>G (p.Lys334Glu) c.1084A>G (p.Lys362Glu) c.640A>G (p.Lys214Glu) c.983+935A>G (n.983+935A>G) | |
17 | g.7669674T>G | CA397830737 | TP53 | c.1117A>C (p.Lys373Gln) c.721A>C (p.Lys241Gln) c.838A>C (p.Lys280Gln) c.1096A>C (p.Lys366Gln) c.994-3430A>C (n.994-3430A>C) c.782+4507A>C (n.782+4507A>C) c.*224A>C (n.*224A>C) c.*136A>C (n.*136A>C) c.70A>C c.1000A>C (p.Lys334Gln) c.1084A>C (p.Lys362Gln) c.640A>C (p.Lys214Gln) c.983+935A>C (n.983+935A>C) | |
17 | g.7669675T>A | CA397830749 | TP53 | c.1116A>T (p.Lys372Asn) c.720A>T (p.Lys240Asn) c.837A>T (p.Lys279Asn) c.1095A>T (p.Lys365Asn) c.994-3431A>T (n.994-3431A>T) c.782+4506A>T (n.782+4506A>T) c.*223A>T (n.*223A>T) c.*135A>T (n.*135A>T) c.69A>T c.999A>T (p.Lys333Asn) c.1083A>T (p.Lys361Asn) c.639A>T (p.Lys213Asn) c.983+934A>T (n.983+934A>T) | |
17 | g.7669675T>C | CA497711546 | TP53 | c.1116A>G (p.Lys372=) c.720A>G (p.Lys240=) c.837A>G (p.Lys279=) c.1095A>G (p.Lys365=) c.994-3431A>G (n.994-3431A>G) c.782+4506A>G (n.782+4506A>G) c.*223A>G (n.*223A>G) c.*135A>G (n.*135A>G) c.69A>G c.999A>G (p.Lys333=) c.1083A>G (p.Lys361=) c.639A>G (p.Lys213=) c.983+934A>G (n.983+934A>G) | |
17 | g.7669675T>G | CA397830757 | TP53 | c.1116A>C (p.Lys372Asn) c.720A>C (p.Lys240Asn) c.837A>C (p.Lys279Asn) c.1095A>C (p.Lys365Asn) c.994-3431A>C (n.994-3431A>C) c.782+4506A>C (n.782+4506A>C) c.*223A>C (n.*223A>C) c.*135A>C (n.*135A>C) c.69A>C c.999A>C (p.Lys333Asn) c.1083A>C (p.Lys361Asn) c.639A>C (p.Lys213Asn) c.983+934A>C (n.983+934A>C) | |
17 | g.7669676T>A | CA397830766 | TP53 | c.1115A>T (p.Lys372Ile) c.719A>T (p.Lys240Ile) c.836A>T (p.Lys279Ile) c.1094A>T (p.Lys365Ile) c.994-3432A>T (n.994-3432A>T) c.782+4505A>T (n.782+4505A>T) c.*222A>T (n.*222A>T) c.*134A>T (n.*134A>T) c.68A>T c.998A>T (p.Lys333Ile) c.1082A>T (p.Lys361Ile) c.638A>T (p.Lys213Ile) c.983+933A>T (n.983+933A>T) | |
17 | g.7669676T>C | CA10580901 | TP53 | c.1115A>G (p.Lys372Arg) c.719A>G (p.Lys240Arg) c.836A>G (p.Lys279Arg) c.1094A>G (p.Lys365Arg) c.994-3432A>G (n.994-3432A>G) c.782+4505A>G (n.782+4505A>G) c.*222A>G (n.*222A>G) c.*134A>G (n.*134A>G) c.68A>G c.998A>G (p.Lys333Arg) c.1082A>G (p.Lys361Arg) c.638A>G (p.Lys213Arg) c.983+933A>G (n.983+933A>G) | ClinVar dbSNP |
17 | g.7669676T>G | CA397830764 | TP53 | c.1115A>C (p.Lys372Thr) c.719A>C (p.Lys240Thr) c.836A>C (p.Lys279Thr) c.1094A>C (p.Lys365Thr) c.994-3432A>C (n.994-3432A>C) c.782+4505A>C (n.782+4505A>C) c.*222A>C (n.*222A>C) c.*134A>C (n.*134A>C) c.68A>C c.998A>C (p.Lys333Thr) c.1082A>C (p.Lys361Thr) c.638A>C (p.Lys213Thr) c.983+933A>C (n.983+933A>C) | ClinVar dbSNP |
17 | g.7669676T= | CA2245940983 | TP53 | c.1115A= (p.Lys372=) c.719A= (p.Lys240=) c.836A= (p.Lys279=) c.1094A= (p.Lys365=) c.994-3432A= (n.994-3432A=) c.782+4505A= (n.782+4505A=) c.*222A= (n.*222A=) c.*134A= (n.*134A=) c.68A= c.998A= (p.Lys333=) c.1082A= (p.Lys361=) c.638A= (p.Lys213=) c.983+933A= (n.983+933A=) | |
17 | g.7669677T>A | CA397830774 | TP53 | c.1114A>T (p.Lys372Ter) c.718A>T (p.Lys240Ter) c.835A>T (p.Lys279Ter) c.1093A>T (p.Lys365Ter) c.994-3433A>T (n.994-3433A>T) c.782+4504A>T (n.782+4504A>T) c.*221A>T (n.*221A>T) c.*133A>T (n.*133A>T) c.67A>T c.997A>T (p.Lys333Ter) c.1081A>T (p.Lys361Ter) c.637A>T (p.Lys213Ter) c.983+932A>T (n.983+932A>T) | COSMIC COSMIC |
17 | g.7669677T>C | CA397830778 | TP53 | c.1114A>G (p.Lys372Glu) c.718A>G (p.Lys240Glu) c.835A>G (p.Lys279Glu) c.1093A>G (p.Lys365Glu) c.994-3433A>G (n.994-3433A>G) c.782+4504A>G (n.782+4504A>G) c.*221A>G (n.*221A>G) c.*133A>G (n.*133A>G) c.67A>G c.997A>G (p.Lys333Glu) c.1081A>G (p.Lys361Glu) c.637A>G (p.Lys213Glu) c.983+932A>G (n.983+932A>G) | |
17 | g.7669677T>G | CA397830780 | TP53 | c.1114A>C (p.Lys372Gln) c.718A>C (p.Lys240Gln) c.835A>C (p.Lys279Gln) c.1093A>C (p.Lys365Gln) c.994-3433A>C (n.994-3433A>C) c.782+4504A>C (n.782+4504A>C) c.*221A>C (n.*221A>C) c.*133A>C (n.*133A>C) c.67A>C c.997A>C (p.Lys333Gln) c.1081A>C (p.Lys361Gln) c.637A>C (p.Lys213Gln) c.983+932A>C (n.983+932A>C) | dbSNP |
17 | g.7669677_7669702del | CA2695195478 | TP53 | c.1101-12_1114del c.705-12_718del c.822-12_835del c.1080-12_1093del c.994-3458_994-3433del (n.994-3458_994-3433del) c.782+4479_782+4504del (n.782+4479_782+4504del) c.*208-12_*221del c.*120-12_*133del c.54-12_67del c.984-12_997del c.1068-12_1081del c.624-12_637del c.983+907_983+932del (n.983+907_983+932del) | |
17 | g.7669678G>A | CA497711561 | TP53 | c.1113C>T (p.Ser371=) c.717C>T (p.Ser239=) c.834C>T (p.Ser278=) c.1092C>T (p.Ser364=) c.994-3434C>T (n.994-3434C>T) c.782+4503C>T (n.782+4503C>T) c.*220C>T (n.*220C>T) c.*132C>T (n.*132C>T) c.66C>T c.996C>T (p.Ser332=) c.1080C>T (p.Ser360=) c.636C>T (p.Ser212=) c.983+931C>T (n.983+931C>T) | ClinVar dbSNP |
17 | g.7669678G>C | CA497711563 | TP53 | c.1113C>G (p.Ser371=) c.717C>G (p.Ser239=) c.834C>G (p.Ser278=) c.1092C>G (p.Ser364=) c.994-3434C>G (n.994-3434C>G) c.782+4503C>G (n.782+4503C>G) c.*220C>G (n.*220C>G) c.*132C>G (n.*132C>G) c.66C>G c.996C>G (p.Ser332=) c.1080C>G (p.Ser360=) c.636C>G (p.Ser212=) c.983+931C>G (n.983+931C>G) | |
17 | g.7669678G= | CA2245940993 | TP53 | c.1113C= (p.Ser371=) c.717C= (p.Ser239=) c.834C= (p.Ser278=) c.1092C= (p.Ser364=) c.994-3434C= (n.994-3434C=) c.782+4503C= (n.782+4503C=) c.*220C= (n.*220C=) c.*132C= (n.*132C=) c.66C= c.996C= (p.Ser332=) c.1080C= (p.Ser360=) c.636C= (p.Ser212=) c.983+931C= (n.983+931C=) | |
17 | g.7669678G>T | CA000684 | TP53 | c.1113C>A (p.Ser371=) c.717C>A (p.Ser239=) c.834C>A (p.Ser278=) c.1092C>A (p.Ser364=) c.994-3434C>A (n.994-3434C>A) c.782+4503C>A (n.782+4503C>A) c.*220C>A (n.*220C>A) c.*132C>A (n.*132C>A) c.66C>A c.996C>A (p.Ser332=) c.1080C>A (p.Ser360=) c.636C>A (p.Ser212=) c.983+931C>A (n.983+931C>A) | dbSNP ExAC gnomAD v2 |
17 | g.7669679del | CA2499224946 | TP53 | c.1113del (p.Lys373ArgfsTer?) c.717del (p.Lys241ArgfsTer?) c.834del (p.Lys280ArgfsTer?) c.1092del (p.Lys366ArgfsTer?) c.994-3434del (n.994-3434del) c.782+4503del (n.782+4503del) c.*220del (n.*220del) c.*132del (n.*132del) c.66del c.996del (p.Lys334ArgfsTer?) c.1080del (p.Lys362ArgfsTer?) c.636del (p.Lys214ArgfsTer?) c.983+931del (n.983+931del) | ClinVar dbSNP |
17 | g.7669679G>A | CA397830791 | TP53 | c.1112C>T (p.Ser371Phe) c.716C>T (p.Ser239Phe) c.833C>T (p.Ser278Phe) c.1091C>T (p.Ser364Phe) c.994-3435C>T (n.994-3435C>T) c.782+4502C>T (n.782+4502C>T) c.*219C>T (n.*219C>T) c.*131C>T (n.*131C>T) c.65C>T c.995C>T (p.Ser332Phe) c.1079C>T (p.Ser360Phe) c.635C>T (p.Ser212Phe) c.983+930C>T (n.983+930C>T) | dbSNP gnomAD v4 |
17 | g.7669679G>C | CA397830794 | TP53 | c.1112C>G (p.Ser371Cys) c.716C>G (p.Ser239Cys) c.833C>G (p.Ser278Cys) c.1091C>G (p.Ser364Cys) c.994-3435C>G (n.994-3435C>G) c.782+4502C>G (n.782+4502C>G) c.*219C>G (n.*219C>G) c.*131C>G (n.*131C>G) c.65C>G c.995C>G (p.Ser332Cys) c.1079C>G (p.Ser360Cys) c.635C>G (p.Ser212Cys) c.983+930C>G (n.983+930C>G) | dbSNP |
17 | g.7669679G>T | CA397830797 | TP53 | c.1112C>A (p.Ser371Tyr) c.716C>A (p.Ser239Tyr) c.833C>A (p.Ser278Tyr) c.1091C>A (p.Ser364Tyr) c.994-3435C>A (n.994-3435C>A) c.782+4502C>A (n.782+4502C>A) c.*219C>A (n.*219C>A) c.*131C>A (n.*131C>A) c.65C>A c.995C>A (p.Ser332Tyr) c.1079C>A (p.Ser360Tyr) c.635C>A (p.Ser212Tyr) c.983+930C>A (n.983+930C>A) | ClinVar dbSNP |
17 | g.7669679_7669689delinsT | CA2740099750 | TP53 | c.1102_1112delinsA (p.His368ThrfsTer?) c.706_716delinsA (p.His236ThrfsTer?) c.823_833delinsA (p.His275ThrfsTer?) c.1081_1091delinsA (p.His361ThrfsTer?) c.994-3445_994-3435delinsA (n.994-3445_994-3435delinsA) c.782+4492_782+4502delinsA (n.782+4492_782+4502delinsA) c.*209_*219delinsA (n.*209_*219delinsA) c.*121_*131delinsA (n.*121_*131delinsA) c.55_65delinsA c.985_995delinsA (p.His329ThrfsTer?) c.1069_1079delinsA (p.His357ThrfsTer?) c.625_635delinsA (p.His209ThrfsTer?) c.983+920_983+930delinsA (n.983+920_983+930delinsA) | |
17 | g.7669680A>C | CA397830801 | TP53 | c.1111T>G (p.Ser371Ala) c.715T>G (p.Ser239Ala) c.832T>G (p.Ser278Ala) c.1090T>G (p.Ser364Ala) c.994-3436T>G (n.994-3436T>G) c.782+4501T>G (n.782+4501T>G) c.*218T>G (n.*218T>G) c.*130T>G (n.*130T>G) c.64T>G c.994T>G (p.Ser332Ala) c.1078T>G (p.Ser360Ala) c.634T>G (p.Ser212Ala) c.983+929T>G (n.983+929T>G) | |
17 | g.7669680A>G | CA397830802 | TP53 | c.1111T>C (p.Ser371Pro) c.715T>C (p.Ser239Pro) c.832T>C (p.Ser278Pro) c.1090T>C (p.Ser364Pro) c.994-3436T>C (n.994-3436T>C) c.782+4501T>C (n.782+4501T>C) c.*218T>C (n.*218T>C) c.*130T>C (n.*130T>C) c.64T>C c.994T>C (p.Ser332Pro) c.1078T>C (p.Ser360Pro) c.634T>C (p.Ser212Pro) c.983+929T>C (n.983+929T>C) | |
17 | g.7669680A>T | CA397830803 | TP53 | c.1111T>A (p.Ser371Thr) c.715T>A (p.Ser239Thr) c.832T>A (p.Ser278Thr) c.1090T>A (p.Ser364Thr) c.994-3436T>A (n.994-3436T>A) c.782+4501T>A (n.782+4501T>A) c.*218T>A (n.*218T>A) c.*130T>A (n.*130T>A) c.64T>A c.994T>A (p.Ser332Thr) c.1078T>A (p.Ser360Thr) c.634T>A (p.Ser212Thr) c.983+929T>A (n.983+929T>A) | gnomAD v4 |
17 | g.7669681C>A | CA397830805 | TP53 | c.1110G>T (p.Lys370Asn) c.714G>T (p.Lys238Asn) c.831G>T (p.Lys277Asn) c.1089G>T (p.Lys363Asn) c.994-3437G>T (n.994-3437G>T) c.782+4500G>T (n.782+4500G>T) c.*217G>T (n.*217G>T) c.*129G>T (n.*129G>T) c.63G>T c.993G>T (p.Lys331Asn) c.1077G>T (p.Lys359Asn) c.633G>T (p.Lys211Asn) c.983+928G>T (n.983+928G>T) | dbSNP |
17 | g.7669681C= | CA2245941002 | TP53 | c.1110G= (p.Lys370=) c.714G= (p.Lys238=) c.831G= (p.Lys277=) c.1089G= (p.Lys363=) c.994-3437G= (n.994-3437G=) c.782+4500G= (n.782+4500G=) c.*217G= (n.*217G=) c.*129G= (n.*129G=) c.63G= c.993G= (p.Lys331=) c.1077G= (p.Lys359=) c.633G= (p.Lys211=) c.983+928G= (n.983+928G=) | |
17 | g.7669681C>G | CA397830809 | TP53 | c.1110G>C (p.Lys370Asn) c.714G>C (p.Lys238Asn) c.831G>C (p.Lys277Asn) c.1089G>C (p.Lys363Asn) c.994-3437G>C (n.994-3437G>C) c.782+4500G>C (n.782+4500G>C) c.*217G>C (n.*217G>C) c.*129G>C (n.*129G>C) c.63G>C c.993G>C (p.Lys331Asn) c.1077G>C (p.Lys359Asn) c.633G>C (p.Lys211Asn) c.983+928G>C (n.983+928G>C) | dbSNP |
17 | g.7669681C>T | CA497711579 | TP53 | c.1110G>A (p.Lys370=) c.714G>A (p.Lys238=) c.831G>A (p.Lys277=) c.1089G>A (p.Lys363=) c.994-3437G>A (n.994-3437G>A) c.782+4500G>A (n.782+4500G>A) c.*217G>A (n.*217G>A) c.*129G>A (n.*129G>A) c.63G>A c.993G>A (p.Lys331=) c.1077G>A (p.Lys359=) c.633G>A (p.Lys211=) c.983+928G>A (n.983+928G>A) | ClinVar dbSNP |
17 | g.7669682T>A | CA397830842 | TP53 | c.1109A>T (p.Lys370Met) c.713A>T (p.Lys238Met) c.830A>T (p.Lys277Met) c.1088A>T (p.Lys363Met) c.994-3438A>T (n.994-3438A>T) c.782+4499A>T (n.782+4499A>T) c.*216A>T (n.*216A>T) c.*128A>T (n.*128A>T) c.62A>T c.992A>T (p.Lys331Met) c.1076A>T (p.Lys359Met) c.632A>T (p.Lys211Met) c.983+927A>T (n.983+927A>T) | ClinVar |
17 | g.7669682T>C | CA397830858 | TP53 | c.1109A>G (p.Lys370Arg) c.713A>G (p.Lys238Arg) c.830A>G (p.Lys277Arg) c.1088A>G (p.Lys363Arg) c.994-3438A>G (n.994-3438A>G) c.782+4499A>G (n.782+4499A>G) c.*216A>G (n.*216A>G) c.*128A>G (n.*128A>G) c.62A>G c.992A>G (p.Lys331Arg) c.1076A>G (p.Lys359Arg) c.632A>G (p.Lys211Arg) c.983+927A>G (n.983+927A>G) | |
17 | g.7669682T>G | CA397830821 | TP53 | c.1109A>C (p.Lys370Thr) c.713A>C (p.Lys238Thr) c.830A>C (p.Lys277Thr) c.1088A>C (p.Lys363Thr) c.994-3438A>C (n.994-3438A>C) c.782+4499A>C (n.782+4499A>C) c.*216A>C (n.*216A>C) c.*128A>C (n.*128A>C) c.62A>C c.992A>C (p.Lys331Thr) c.1076A>C (p.Lys359Thr) c.632A>C (p.Lys211Thr) c.983+927A>C (n.983+927A>C) | ClinVar dbSNP |
17 | g.7669683T>A | CA397830863 | TP53 | c.1108A>T (p.Lys370Ter) c.712A>T (p.Lys238Ter) c.829A>T (p.Lys277Ter) c.1087A>T (p.Lys363Ter) c.994-3439A>T (n.994-3439A>T) c.782+4498A>T (n.782+4498A>T) c.*215A>T (n.*215A>T) c.*127A>T (n.*127A>T) c.61A>T c.991A>T (p.Lys331Ter) c.1075A>T (p.Lys359Ter) c.631A>T (p.Lys211Ter) c.983+926A>T (n.983+926A>T) | |
17 | g.7669683T>C | CA397830864 | TP53 | c.1108A>G (p.Lys370Glu) c.712A>G (p.Lys238Glu) c.829A>G (p.Lys277Glu) c.1087A>G (p.Lys363Glu) c.994-3439A>G (n.994-3439A>G) c.782+4498A>G (n.782+4498A>G) c.*215A>G (n.*215A>G) c.*127A>G (n.*127A>G) c.61A>G c.991A>G (p.Lys331Glu) c.1075A>G (p.Lys359Glu) c.631A>G (p.Lys211Glu) c.983+926A>G (n.983+926A>G) | |
17 | g.7669683T>G | CA397830865 | TP53 | c.1108A>C (p.Lys370Gln) c.712A>C (p.Lys238Gln) c.829A>C (p.Lys277Gln) c.1087A>C (p.Lys363Gln) c.994-3439A>C (n.994-3439A>C) c.782+4498A>C (n.782+4498A>C) c.*215A>C (n.*215A>C) c.*127A>C (n.*127A>C) c.61A>C c.991A>C (p.Lys331Gln) c.1075A>C (p.Lys359Gln) c.631A>C (p.Lys211Gln) c.983+926A>C (n.983+926A>C) | dbSNP gnomAD v4 COSMIC |
17 | g.7669684C>A | CA497711591 | TP53 | c.1107G>T (p.Leu369=) c.711G>T (p.Leu237=) c.828G>T (p.Leu276=) c.1086G>T (p.Leu362=) c.994-3440G>T (n.994-3440G>T) c.782+4497G>T (n.782+4497G>T) c.*214G>T (n.*214G>T) c.*126G>T (n.*126G>T) c.60G>T c.990G>T (p.Leu330=) c.1074G>T (p.Leu358=) c.630G>T (p.Leu210=) c.983+925G>T (n.983+925G>T) | |
17 | g.7669684C>G | CA497711594 | TP53 | c.1107G>C (p.Leu369=) c.711G>C (p.Leu237=) c.828G>C (p.Leu276=) c.1086G>C (p.Leu362=) c.994-3440G>C (n.994-3440G>C) c.782+4497G>C (n.782+4497G>C) c.*214G>C (n.*214G>C) c.*126G>C (n.*126G>C) c.60G>C c.990G>C (p.Leu330=) c.1074G>C (p.Leu358=) c.630G>C (p.Leu210=) c.983+925G>C (n.983+925G>C) | dbSNP |
17 | g.7669684C>T | CA497711596 | TP53 | c.1107G>A (p.Leu369=) c.711G>A (p.Leu237=) c.828G>A (p.Leu276=) c.1086G>A (p.Leu362=) c.994-3440G>A (n.994-3440G>A) c.782+4497G>A (n.782+4497G>A) c.*214G>A (n.*214G>A) c.*126G>A (n.*126G>A) c.60G>A c.990G>A (p.Leu330=) c.1074G>A (p.Leu358=) c.630G>A (p.Leu210=) c.983+925G>A (n.983+925G>A) | ClinVar dbSNP |
17 | g.7669684_7669773delinsCAGGTGGCTGTAGGAGACAGAAGCAGGGAGGAGAGATGACATCACATGAGTGAGAGGGTCTGTGCCCCTTTTCCCTGACCAATGCTTTGA | CA2245941009 | TP53 | c.1101-83_1107delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.705-83_711delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.822-83_828delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.1080-83_1086delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.994-3529_994-3440delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG (n.994-3529_994-3440delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG) c.782+4408_782+4497delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG (n.782+4408_782+4497delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG) c.*208-83_*214delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.*120-83_*126delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.54-83_60delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.984-83_990delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.1068-83_1074delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.624-83_630delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG c.983+836_983+925delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG (n.983+836_983+925delinsTCAAAGCATTGGTCAGGGAAAAGGGGCACAGACCCTCTCACTCATGTGATGTCATCTCTCCTCCCTGCTTCTGTCTCCTACAGCCACCTG) | |
17 | g.7669685A>C | CA397830866 | TP53 | c.1106T>G (p.Leu369Arg) c.710T>G (p.Leu237Arg) c.827T>G (p.Leu276Arg) c.1085T>G (p.Leu362Arg) c.994-3441T>G (n.994-3441T>G) c.782+4496T>G (n.782+4496T>G) c.*213T>G (n.*213T>G) c.*125T>G (n.*125T>G) c.59T>G c.989T>G (p.Leu330Arg) c.1073T>G (p.Leu358Arg) c.629T>G (p.Leu210Arg) c.983+924T>G (n.983+924T>G) | |
17 | g.7669685A>G | CA397830867 | TP53 | c.1106T>C (p.Leu369Pro) c.710T>C (p.Leu237Pro) c.827T>C (p.Leu276Pro) c.1085T>C (p.Leu362Pro) c.994-3441T>C (n.994-3441T>C) c.782+4496T>C (n.782+4496T>C) c.*213T>C (n.*213T>C) c.*125T>C (n.*125T>C) c.59T>C c.989T>C (p.Leu330Pro) c.1073T>C (p.Leu358Pro) c.629T>C (p.Leu210Pro) c.983+924T>C (n.983+924T>C) | dbSNP |
17 | g.7669685A>T | CA397830868 | TP53 | c.1106T>A (p.Leu369Gln) c.710T>A (p.Leu237Gln) c.827T>A (p.Leu276Gln) c.1085T>A (p.Leu362Gln) c.994-3441T>A (n.994-3441T>A) c.782+4496T>A (n.782+4496T>A) c.*213T>A (n.*213T>A) c.*125T>A (n.*125T>A) c.59T>A c.989T>A (p.Leu330Gln) c.1073T>A (p.Leu358Gln) c.629T>A (p.Leu210Gln) c.983+924T>A (n.983+924T>A) | dbSNP |
17 | g.7669688_7669776del | CA915949509 | TP53 | c.1101-83_1106del c.705-83_710del c.822-83_827del c.1080-83_1085del c.994-3529_994-3441del (n.994-3529_994-3441del) c.782+4408_782+4496del (n.782+4408_782+4496del) c.*208-83_*213del c.*120-83_*125del c.54-83_59del c.984-83_989del c.1068-83_1073del c.624-83_629del c.983+836_983+924del (n.983+836_983+924del) | ClinVar dbSNP |
17 | g.7669686G>A | CA497711603 | TP53 | c.1105C>T (p.Leu369=) c.709C>T (p.Leu237=) c.826C>T (p.Leu276=) c.1084C>T (p.Leu362=) c.994-3442C>T (n.994-3442C>T) c.782+4495C>T (n.782+4495C>T) c.*212C>T (n.*212C>T) c.*124C>T (n.*124C>T) c.58C>T c.988C>T (p.Leu330=) c.1072C>T (p.Leu358=) c.628C>T (p.Leu210=) c.983+923C>T (n.983+923C>T) | |
17 | g.7669686G>C | CA397830869 | TP53 | c.1105C>G (p.Leu369Val) c.709C>G (p.Leu237Val) c.826C>G (p.Leu276Val) c.1084C>G (p.Leu362Val) c.994-3442C>G (n.994-3442C>G) c.782+4495C>G (n.782+4495C>G) c.*212C>G (n.*212C>G) c.*124C>G (n.*124C>G) c.58C>G c.988C>G (p.Leu330Val) c.1072C>G (p.Leu358Val) c.628C>G (p.Leu210Val) c.983+923C>G (n.983+923C>G) | |
17 | g.7669686G>T | CA397830871 | TP53 | c.1105C>A (p.Leu369Met) c.709C>A (p.Leu237Met) c.826C>A (p.Leu276Met) c.1084C>A (p.Leu362Met) c.994-3442C>A (n.994-3442C>A) c.782+4495C>A (n.782+4495C>A) c.*212C>A (n.*212C>A) c.*124C>A (n.*124C>A) c.58C>A c.988C>A (p.Leu330Met) c.1072C>A (p.Leu358Met) c.628C>A (p.Leu210Met) c.983+923C>A (n.983+923C>A) | |
17 | g.7669687G>A | CA497711608 | TP53 | c.1104C>T (p.His368=) c.708C>T (p.His236=) c.825C>T (p.His275=) c.1083C>T (p.His361=) c.994-3443C>T (n.994-3443C>T) c.782+4494C>T (n.782+4494C>T) c.*211C>T (n.*211C>T) c.*123C>T (n.*123C>T) c.57C>T c.987C>T (p.His329=) c.1071C>T (p.His357=) c.627C>T (p.His209=) c.983+922C>T (n.983+922C>T) | ClinVar dbSNP |
17 | g.7669687G>C | CA397830872 | TP53 | c.1104C>G (p.His368Gln) c.708C>G (p.His236Gln) c.825C>G (p.His275Gln) c.1083C>G (p.His361Gln) c.994-3443C>G (n.994-3443C>G) c.782+4494C>G (n.782+4494C>G) c.*211C>G (n.*211C>G) c.*123C>G (n.*123C>G) c.57C>G c.987C>G (p.His329Gln) c.1071C>G (p.His357Gln) c.627C>G (p.His209Gln) c.983+922C>G (n.983+922C>G) | ClinVar dbSNP |
17 | g.7669687G= | CA2245941042 | TP53 | c.1104C= (p.His368=) c.708C= (p.His236=) c.825C= (p.His275=) c.1083C= (p.His361=) c.994-3443C= (n.994-3443C=) c.782+4494C= (n.782+4494C=) c.*211C= (n.*211C=) c.*123C= (n.*123C=) c.57C= c.987C= (p.His329=) c.1071C= (p.His357=) c.627C= (p.His209=) c.983+922C= (n.983+922C=) | |
17 | g.7669687G>T | CA397830875 | TP53 | c.1104C>A (p.His368Gln) c.708C>A (p.His236Gln) c.825C>A (p.His275Gln) c.1083C>A (p.His361Gln) c.994-3443C>A (n.994-3443C>A) c.782+4494C>A (n.782+4494C>A) c.*211C>A (n.*211C>A) c.*123C>A (n.*123C>A) c.57C>A c.987C>A (p.His329Gln) c.1071C>A (p.His357Gln) c.627C>A (p.His209Gln) c.983+922C>A (n.983+922C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7669688T>A | CA397830879 | TP53 | c.1103A>T (p.His368Leu) c.707A>T (p.His236Leu) c.824A>T (p.His275Leu) c.1082A>T (p.His361Leu) c.994-3444A>T (n.994-3444A>T) c.782+4493A>T (n.782+4493A>T) c.*210A>T (n.*210A>T) c.*122A>T (n.*122A>T) c.56A>T c.986A>T (p.His329Leu) c.1070A>T (p.His357Leu) c.626A>T (p.His209Leu) c.983+921A>T (n.983+921A>T) | dbSNP |
17 | g.7669688T>C | CA397830881 | TP53 | c.1103A>G (p.His368Arg) c.707A>G (p.His236Arg) c.824A>G (p.His275Arg) c.1082A>G (p.His361Arg) c.994-3444A>G (n.994-3444A>G) c.782+4493A>G (n.782+4493A>G) c.*210A>G (n.*210A>G) c.*122A>G (n.*122A>G) c.56A>G c.986A>G (p.His329Arg) c.1070A>G (p.His357Arg) c.626A>G (p.His209Arg) c.983+921A>G (n.983+921A>G) | ClinVar dbSNP |
17 | g.7669688T>G | CA397830889 | TP53 | c.1103A>C (p.His368Pro) c.707A>C (p.His236Pro) c.824A>C (p.His275Pro) c.1082A>C (p.His361Pro) c.994-3444A>C (n.994-3444A>C) c.782+4493A>C (n.782+4493A>C) c.*210A>C (n.*210A>C) c.*122A>C (n.*122A>C) c.56A>C c.986A>C (p.His329Pro) c.1070A>C (p.His357Pro) c.626A>C (p.His209Pro) c.983+921A>C (n.983+921A>C) | dbSNP gnomAD v4 |
17 | g.7669689G>A | CA000039 | TP53 | c.1102C>T (p.His368Tyr) c.706C>T (p.His236Tyr) c.823C>T (p.His275Tyr) c.1081C>T (p.His361Tyr) c.994-3445C>T (n.994-3445C>T) c.782+4492C>T (n.782+4492C>T) c.*209C>T (n.*209C>T) c.*121C>T (n.*121C>T) c.55C>T c.985C>T (p.His329Tyr) c.1069C>T (p.His357Tyr) c.625C>T (p.His209Tyr) c.983+920C>T (n.983+920C>T) | ClinVar dbSNP |
17 | g.7669689G>C | CA287485486 | TP53 | c.1102C>G (p.His368Asp) c.706C>G (p.His236Asp) c.823C>G (p.His275Asp) c.1081C>G (p.His361Asp) c.994-3445C>G (n.994-3445C>G) c.782+4492C>G (n.782+4492C>G) c.*209C>G (n.*209C>G) c.*121C>G (n.*121C>G) c.55C>G c.985C>G (p.His329Asp) c.1069C>G (p.His357Asp) c.625C>G (p.His209Asp) c.983+920C>G (n.983+920C>G) | dbSNP |
17 | g.7669689G= | CA2245941052 | TP53 | c.1102C= (p.His368=) c.706C= (p.His236=) c.823C= (p.His275=) c.1081C= (p.His361=) c.994-3445C= (n.994-3445C=) c.782+4492C= (n.782+4492C=) c.*209C= (n.*209C=) c.*121C= (n.*121C=) c.55C= c.985C= (p.His329=) c.1069C= (p.His357=) c.625C= (p.His209=) c.983+920C= (n.983+920C=) | |
17 | g.7669689G>T | CA397830904 | TP53 | c.1102C>A (p.His368Asn) c.706C>A (p.His236Asn) c.823C>A (p.His275Asn) c.1081C>A (p.His361Asn) c.994-3445C>A (n.994-3445C>A) c.782+4492C>A (n.782+4492C>A) c.*209C>A (n.*209C>A) c.*121C>A (n.*121C>A) c.55C>A c.985C>A (p.His329Asn) c.1069C>A (p.His357Asn) c.625C>A (p.His209Asn) c.983+920C>A (n.983+920C>A) | ClinVar dbSNP |
17 | g.7669690G>A | CA497711624 | TP53 | c.1101C>T (p.Ser367=) c.705C>T (p.Ser235=) c.822C>T (p.Ser274=) c.1080C>T (p.Ser360=) c.994-3446C>T (n.994-3446C>T) c.782+4491C>T (n.782+4491C>T) c.*208C>T (n.*208C>T) c.*120C>T (n.*120C>T) c.54C>T c.984C>T (p.Ser328=) c.1068C>T (p.Ser356=) c.624C>T (p.Ser208=) c.983+919C>T (n.983+919C>T) | ClinVar dbSNP |
17 | g.7669690G>C | CA397830908 | TP53 | c.1101C>G (p.Ser367Arg) c.705C>G (p.Ser235Arg) c.822C>G (p.Ser274Arg) c.1080C>G (p.Ser360Arg) c.994-3446C>G (n.994-3446C>G) c.782+4491C>G (n.782+4491C>G) c.*208C>G (n.*208C>G) c.*120C>G (n.*120C>G) c.54C>G c.984C>G (p.Ser328Arg) c.1068C>G (p.Ser356Arg) c.624C>G (p.Ser208Arg) c.983+919C>G (n.983+919C>G) | dbSNP |
17 | g.7669690G>T | CA397830912 | TP53 | c.1101C>A (p.Ser367Arg) c.705C>A (p.Ser235Arg) c.822C>A (p.Ser274Arg) c.1080C>A (p.Ser360Arg) c.994-3446C>A (n.994-3446C>A) c.782+4491C>A (n.782+4491C>A) c.*208C>A (n.*208C>A) c.*120C>A (n.*120C>A) c.54C>A c.984C>A (p.Ser328Arg) c.1068C>A (p.Ser356Arg) c.624C>A (p.Ser208Arg) c.983+919C>A (n.983+919C>A) | |
17 | g.7669691C>A | CA397830915 | TP53 | c.1101-1G>T (n.1101-1G>T) c.705-1G>T (n.705-1G>T) c.822-1G>T (n.822-1G>T) c.1080-1G>T (n.1080-1G>T) c.994-3447G>T (n.994-3447G>T) c.782+4490G>T (n.782+4490G>T) c.*208-1G>T (n.*208-1G>T) c.*120-1G>T (n.*120-1G>T) c.54-1G>T c.984-1G>T (n.984-1G>T) c.1068-1G>T (n.1068-1G>T) c.624-1G>T (n.624-1G>T) c.983+918G>T (n.983+918G>T) | dbSNP |
17 | g.7669691C= | CA2245941067 | TP53 | c.1101-1G= (n.1101-1G=) c.705-1G= (n.705-1G=) c.822-1G= (n.822-1G=) c.1080-1G= (n.1080-1G=) c.994-3447G= (n.994-3447G=) c.782+4490G= (n.782+4490G=) c.*208-1G= (n.*208-1G=) c.*120-1G= (n.*120-1G=) c.54-1G= c.984-1G= (n.984-1G=) c.1068-1G= (n.1068-1G=) c.624-1G= (n.624-1G=) c.983+918G= (n.983+918G=) | |
17 | g.7669691C>G | CA397830919 | TP53 | c.1101-1G>C (n.1101-1G>C) c.705-1G>C (n.705-1G>C) c.822-1G>C (n.822-1G>C) c.1080-1G>C (n.1080-1G>C) c.994-3447G>C (n.994-3447G>C) c.782+4490G>C (n.782+4490G>C) c.*208-1G>C (n.*208-1G>C) c.*120-1G>C (n.*120-1G>C) c.54-1G>C c.984-1G>C (n.984-1G>C) c.1068-1G>C (n.1068-1G>C) c.624-1G>C (n.624-1G>C) c.983+918G>C (n.983+918G>C) | ClinVar |
17 | g.7669691C>T | CA10580902 | TP53 | c.1101-1G>A (n.1101-1G>A) c.705-1G>A (n.705-1G>A) c.822-1G>A (n.822-1G>A) c.1080-1G>A (n.1080-1G>A) c.994-3447G>A (n.994-3447G>A) c.782+4490G>A (n.782+4490G>A) c.*208-1G>A (n.*208-1G>A) c.*120-1G>A (n.*120-1G>A) c.54-1G>A c.984-1G>A (n.984-1G>A) c.1068-1G>A (n.1068-1G>A) c.624-1G>A (n.624-1G>A) c.983+918G>A (n.983+918G>A) | ClinVar dbSNP |
17 | g.7669692T>A | CA397830922 | TP53 | c.1101-2A>T (n.1101-2A>T) c.705-2A>T (n.705-2A>T) c.822-2A>T (n.822-2A>T) c.1080-2A>T (n.1080-2A>T) c.994-3448A>T (n.994-3448A>T) c.782+4489A>T (n.782+4489A>T) c.*208-2A>T (n.*208-2A>T) c.*120-2A>T (n.*120-2A>T) c.54-2A>T c.984-2A>T (n.984-2A>T) c.1068-2A>T (n.1068-2A>T) c.624-2A>T (n.624-2A>T) c.983+917A>T (n.983+917A>T) | ClinVar dbSNP COSMIC |
17 | g.7669692T>C | CA000038 | TP53 | c.1101-2A>G (n.1101-2A>G) c.705-2A>G (n.705-2A>G) c.822-2A>G (n.822-2A>G) c.1080-2A>G (n.1080-2A>G) c.994-3448A>G (n.994-3448A>G) c.782+4489A>G (n.782+4489A>G) c.*208-2A>G (n.*208-2A>G) c.*120-2A>G (n.*120-2A>G) c.54-2A>G c.984-2A>G (n.984-2A>G) c.1068-2A>G (n.1068-2A>G) c.624-2A>G (n.624-2A>G) c.983+917A>G (n.983+917A>G) | ClinVar dbSNP |
17 | g.7669692T>G | CA397830927 | TP53 | c.1101-2A>C (n.1101-2A>C) c.705-2A>C (n.705-2A>C) c.822-2A>C (n.822-2A>C) c.1080-2A>C (n.1080-2A>C) c.994-3448A>C (n.994-3448A>C) c.782+4489A>C (n.782+4489A>C) c.*208-2A>C (n.*208-2A>C) c.*120-2A>C (n.*120-2A>C) c.54-2A>C c.984-2A>C (n.984-2A>C) c.1068-2A>C (n.1068-2A>C) c.624-2A>C (n.624-2A>C) c.983+917A>C (n.983+917A>C) | ClinVar dbSNP COSMIC COSMIC |
17 | g.7669692T= | CA2245941075 | TP53 | c.1101-2A= (n.1101-2A=) c.705-2A= (n.705-2A=) c.822-2A= (n.822-2A=) c.1080-2A= (n.1080-2A=) c.994-3448A= (n.994-3448A=) c.782+4489A= (n.782+4489A=) c.*208-2A= (n.*208-2A=) c.*120-2A= (n.*120-2A=) c.54-2A= c.984-2A= (n.984-2A=) c.1068-2A= (n.1068-2A=) c.624-2A= (n.624-2A=) c.983+917A= (n.983+917A=) | |
17 | g.7669693G>A | CA16608655 | TP53 | c.1101-3C>T (n.1101-3C>T) c.705-3C>T (n.705-3C>T) c.822-3C>T (n.822-3C>T) c.1080-3C>T (n.1080-3C>T) c.994-3449C>T (n.994-3449C>T) c.782+4488C>T (n.782+4488C>T) c.*208-3C>T (n.*208-3C>T) c.*120-3C>T (n.*120-3C>T) c.54-3C>T c.984-3C>T (n.984-3C>T) c.1068-3C>T (n.1068-3C>T) c.624-3C>T (n.624-3C>T) c.983+916C>T (n.983+916C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7669693G>C | CA2732943613 | TP53 | c.1101-3C>G (n.1101-3C>G) c.705-3C>G (n.705-3C>G) c.822-3C>G (n.822-3C>G) c.1080-3C>G (n.1080-3C>G) c.994-3449C>G (n.994-3449C>G) c.782+4488C>G (n.782+4488C>G) c.*208-3C>G (n.*208-3C>G) c.*120-3C>G (n.*120-3C>G) c.54-3C>G c.984-3C>G (n.984-3C>G) c.1068-3C>G (n.1068-3C>G) c.624-3C>G (n.624-3C>G) c.983+916C>G (n.983+916C>G) | dbSNP |
17 | g.7669693G= | CA2245941083 | TP53 | c.1101-3C= (n.1101-3C=) c.705-3C= (n.705-3C=) c.822-3C= (n.822-3C=) c.1080-3C= (n.1080-3C=) c.994-3449C= (n.994-3449C=) c.782+4488C= (n.782+4488C=) c.*208-3C= (n.*208-3C=) c.*120-3C= (n.*120-3C=) c.54-3C= c.984-3C= (n.984-3C=) c.1068-3C= (n.1068-3C=) c.624-3C= (n.624-3C=) c.983+916C= (n.983+916C=) | |
17 | g.7669694T>A | CA2733127132 | TP53 | c.1101-4A>T (n.1101-4A>T) c.705-4A>T (n.705-4A>T) c.822-4A>T (n.822-4A>T) c.1080-4A>T (n.1080-4A>T) c.994-3450A>T (n.994-3450A>T) c.782+4487A>T (n.782+4487A>T) c.*208-4A>T (n.*208-4A>T) c.*120-4A>T (n.*120-4A>T) c.54-4A>T c.984-4A>T (n.984-4A>T) c.1068-4A>T (n.1068-4A>T) c.624-4A>T (n.624-4A>T) c.983+915A>T (n.983+915A>T) | dbSNP |
17 | g.7669694T>C | CA2580094821 | TP53 | c.1101-4A>G (n.1101-4A>G) c.705-4A>G (n.705-4A>G) c.822-4A>G (n.822-4A>G) c.1080-4A>G (n.1080-4A>G) c.994-3450A>G (n.994-3450A>G) c.782+4487A>G (n.782+4487A>G) c.*208-4A>G (n.*208-4A>G) c.*120-4A>G (n.*120-4A>G) c.54-4A>G c.984-4A>G (n.984-4A>G) c.1068-4A>G (n.1068-4A>G) c.624-4A>G (n.624-4A>G) c.983+915A>G (n.983+915A>G) | ClinVar dbSNP |
17 | g.7669694T>G | CA2733126968 | TP53 | c.1101-4A>C (n.1101-4A>C) c.705-4A>C (n.705-4A>C) c.822-4A>C (n.822-4A>C) c.1080-4A>C (n.1080-4A>C) c.994-3450A>C (n.994-3450A>C) c.782+4487A>C (n.782+4487A>C) c.*208-4A>C (n.*208-4A>C) c.*120-4A>C (n.*120-4A>C) c.54-4A>C c.984-4A>C (n.984-4A>C) c.1068-4A>C (n.1068-4A>C) c.624-4A>C (n.624-4A>C) c.983+915A>C (n.983+915A>C) | dbSNP |
17 | g.7669694_7669711delinsTAGGAGACAGAAGCAGGG | CA2245941087 | TP53 | c.1101-21_1101-4delinsCCCTGCTTCTGTCTCCTA (n.1101-21_1101-4delinsCCCTGCTTCTGTCTCCTA) c.705-21_705-4delinsCCCTGCTTCTGTCTCCTA (n.705-21_705-4delinsCCCTGCTTCTGTCTCCTA) c.822-21_822-4delinsCCCTGCTTCTGTCTCCTA (n.822-21_822-4delinsCCCTGCTTCTGTCTCCTA) c.1080-21_1080-4delinsCCCTGCTTCTGTCTCCTA (n.1080-21_1080-4delinsCCCTGCTTCTGTCTCCTA) c.994-3467_994-3450delinsCCCTGCTTCTGTCTCCTA (n.994-3467_994-3450delinsCCCTGCTTCTGTCTCCTA) c.782+4470_782+4487delinsCCCTGCTTCTGTCTCCTA (n.782+4470_782+4487delinsCCCTGCTTCTGTCTCCTA) c.*208-21_*208-4delinsCCCTGCTTCTGTCTCCTA (n.*208-21_*208-4delinsCCCTGCTTCTGTCTCCTA) c.*120-21_*120-4delinsCCCTGCTTCTGTCTCCTA (n.*120-21_*120-4delinsCCCTGCTTCTGTCTCCTA) c.54-21_54-4delinsCCCTGCTTCTGTCTCCTA c.984-21_984-4delinsCCCTGCTTCTGTCTCCTA (n.984-21_984-4delinsCCCTGCTTCTGTCTCCTA) c.1068-21_1068-4delinsCCCTGCTTCTGTCTCCTA (n.1068-21_1068-4delinsCCCTGCTTCTGTCTCCTA) c.624-21_624-4delinsCCCTGCTTCTGTCTCCTA (n.624-21_624-4delinsCCCTGCTTCTGTCTCCTA) c.983+898_983+915delinsCCCTGCTTCTGTCTCCTA (n.983+898_983+915delinsCCCTGCTTCTGTCTCCTA) | |
17 | g.7669695A>G | CA2635879106 | TP53 | c.1101-5T>C (n.1101-5T>C) c.705-5T>C (n.705-5T>C) c.822-5T>C (n.822-5T>C) c.1080-5T>C (n.1080-5T>C) c.994-3451T>C (n.994-3451T>C) c.782+4486T>C (n.782+4486T>C) c.*208-5T>C (n.*208-5T>C) c.*120-5T>C (n.*120-5T>C) c.54-5T>C c.984-5T>C (n.984-5T>C) c.1068-5T>C (n.1068-5T>C) c.624-5T>C (n.624-5T>C) c.983+914T>C (n.983+914T>C) | dbSNP gnomAD v4 |
17 | g.7669701_7669717del | CA624725483 | TP53 | c.1101-21_1101-5del (n.1101-21_1101-5del) c.705-21_705-5del (n.705-21_705-5del) c.822-21_822-5del (n.822-21_822-5del) c.1080-21_1080-5del (n.1080-21_1080-5del) c.994-3467_994-3451del (n.994-3467_994-3451del) c.782+4470_782+4486del (n.782+4470_782+4486del) c.*208-21_*208-5del (n.*208-21_*208-5del) c.*120-21_*120-5del (n.*120-21_*120-5del) c.54-21_54-5del c.984-21_984-5del (n.984-21_984-5del) c.1068-21_1068-5del (n.1068-21_1068-5del) c.624-21_624-5del (n.624-21_624-5del) c.983+898_983+914del (n.983+898_983+914del) | dbSNP gnomAD v2 gnomAD v4 |