| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7669589_7676614del | CA2499224945 | TP53 | c.-19_*21del c.-21-1377_*21del c.-19_*310del c.-19_*222del c.-253_*21del c.-136_*222del c.-136_*21del c.-136_*310del c.-136_983+1021del | ClinVar |
| 17 | g.7669609_7676594del | CA2581463470 | TP53 | c.1_1182del c.-21-1358_786del c.1_903del c.1_1161del c.1_994-3365del c.1_782+4572del c.1_*289del c.1_*201del c.-234_1065del c.-117_*201del c.1_1149del c.-117_1065del c.-117_*289del c.-117_983+1000del | |
| 17 | g.7674861_7676624dup | CA2573130640 | TP53 | c.-28_672dup c.-21-1386_276dup c.-28_393dup c.-28_651dup c.-25-3_672dup n.112_928dup c.-262_555dup c.-145_555dup c.-142-3_555dup | ClinVar |
| 17 | g.7675197_7676153del | CA645589160 | TP53 | c.216_415del c.-21-917_19del c.96+229_136del c.216_394del n.472_671del c.99_298del c.216_382del | COSMIC |
| 17 | g.7675226_7676561del | CA645589205 | TP53 | c.36_388del c.-21-1323_-9del c.36_109del c.36_376-9del n.175_644del c.-199_271del c.-82_271del c.36_355del | COSMIC |
| 17 | g.7675995_7676194del | CA645589234 | TP53 | c.179_375+3del c.-21-954_-21-755del (n.-21-954_-21-755del) c.96+192_96+391del (n.96+192_96+391del) n.435_631+3del c.62_258+3del c.179_340+34del | COSMIC |
| 17 | g.7675995_7676272del | CA645589239 | TP53 | c.97_374del (p.Ser33ValfsTer23) c.-21-1036_-21-759del (n.-21-1036_-21-759del) c.96+110_96+387del (n.96+110_96+387del) c.97_374del (p.Ser33AspfsTer16) c.97_374del (p.Ser33ValfsTer?) n.353_630del c.-21_257del c.97_340+30del | COSMIC |
| 17 | g.7676074_7676129del | CA645589310 | TP53 | c.240_295del (p.Thr81ProfsTer?) c.-21-893_-21-838del (n.-21-893_-21-838del) c.96+253_96+308del (n.96+253_96+308del) n.496_551del c.123_178del (p.Thr42ProfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676081_7676122dup | CA645589315 | TP53 | c.248_289dup (p.Ser96_Val97insAlaAlaProAlaProAlaProSerTrpProLeuSerSerSer) c.-21-885_-21-844dup (n.-21-885_-21-844dup) c.96+261_96+302dup (n.96+261_96+302dup) n.504_545dup c.131_172dup (p.Ser57_Val58insAlaAlaProAlaProAlaProSerTrpProLeuSerSerSer) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676089_7676142delinsACAGGGGCCAGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTG | CA2245933936 | TP53 | c.227_280delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT (p.Ala76=) c.-21-906_-21-853delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT (n.-21-906_-21-853delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT) c.96+240_96+293delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT (n.96+240_96+293delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT) n.483_536delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT c.110_163delinsCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTGT (p.Ala37=) | |
| 17 | g.7676099_7676151del | CA645369690 | TP53 | c.227_279del (p.Ala76ValfsTer?) c.-21-906_-21-854del (n.-21-906_-21-854del) c.96+240_96+292del (n.96+240_96+292del) n.483_535del c.110_162del (p.Ala37ValfsTer?) | ClinVar dbSNP |
| 17 | g.7676092_7676122del | CA891842280 | TP53 | c.247_277del (p.Ala83CysfsTer30) c.-21-886_-21-856del (n.-21-886_-21-856del) c.96+260_96+290del (n.96+260_96+290del) n.503_533del c.130_160del (p.Ala44CysfsTer30) c.247_277del (p.Ala83CysfsTer?) | |
| 17 | g.7676096_7676232del | CA645589328 | TP53 | c.141_277del (p.Asp48ValfsTer?) c.-21-992_-21-856del (n.-21-992_-21-856del) c.96+154_96+290del (n.96+154_96+290del) n.397_533del c.24_160del (p.Asp9ValfsTer?) | COSMIC |
| 17 | g.7676099_7676143del | CA645589334 | TP53 | c.226_270del (p.Ala76_Ser90del) c.-21-907_-21-863del (n.-21-907_-21-863del) c.96+239_96+283del (n.96+239_96+283del) n.482_526del c.109_153del (p.Ala37_Ser51del) | COSMIC |
| 17 | g.7676105_7676134del | CA645589343 | TP53 | c.235_264del (p.Ala79_Ala88del) c.-21-898_-21-869del (n.-21-898_-21-869del) c.96+248_96+277del (n.96+248_96+277del) n.491_520del c.118_147del (p.Ala40_Ala49del) | COSMIC |
| 17 | g.7676105_7676135delinsGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCT | CA2245934157 | TP53 | c.234_264delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC (p.Ala78=) c.-21-899_-21-869delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC (n.-21-899_-21-869delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC) c.96+247_96+277delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC (n.96+247_96+277delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC) n.490_520delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC c.117_147delinsAGCTCCTACACCGGCGGCCCCTGCACCAGCC (p.Ala39=) | |
| 17 | g.7676121_7676150del | CA002925 | TP53 | c.234_263del (p.Ala79_Ala88del) c.-21-899_-21-870del (n.-21-899_-21-870del) c.96+247_96+276del (n.96+247_96+276del) n.490_519del c.117_146del (p.Ala40_Ala49del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7676108_7676123del | CA645589345 | TP53 | c.247_262del (p.Ala83ProfsTer?) c.-21-886_-21-871del (n.-21-886_-21-871del) c.96+260_96+275del (n.96+260_96+275del) n.503_518del c.130_145del (p.Ala44ProfsTer?) | COSMIC |
| 17 | g.7676110_7676125del | CA2695199887 | TP53 | c.245_260del (p.Pro82GlnfsTer?) c.-21-888_-21-873del (n.-21-888_-21-873del) c.96+258_96+273del (n.96+258_96+273del) n.501_516del c.128_143del (p.Pro43GlnfsTer?) | ClinVar |
| 17 | g.7676112_7676122delinsGCAGGGGCCGC | CA2245934219 | TP53 | c.247_257delinsGCGGCCCCTGC (p.Ala83=) c.-21-886_-21-876delinsGCGGCCCCTGC (n.-21-886_-21-876delinsGCGGCCCCTGC) c.96+260_96+270delinsGCGGCCCCTGC (n.96+260_96+270delinsGCGGCCCCTGC) n.503_513delinsGCGGCCCCTGC c.130_140delinsGCGGCCCCTGC (p.Ala44=) | |
| 17 | g.7676114_7676123del | CA658824568 | TP53 | c.247_256del (p.Ala83HisfsTer?) c.-21-886_-21-877del (n.-21-886_-21-877del) c.96+260_96+269del (n.96+260_96+269del) n.503_512del c.130_139del (p.Ala44HisfsTer?) | ClinVar dbSNP |
| 17 | g.7676114_7676127del | CA891842281 | TP53 | c.242_255del (p.Thr81SerfsTer?) c.-21-891_-21-878del (n.-21-891_-21-878del) c.96+255_96+268del (n.96+255_96+268del) n.498_511del c.125_138del (p.Thr42SerfsTer?) | |
| 17 | g.7676115_7676123delinsGGGGCCGCC | CA2245934270 | TP53 | c.246_254delinsGGCGGCCCC (p.Pro82=) c.-21-887_-21-879delinsGGCGGCCCC (n.-21-887_-21-879delinsGGCGGCCCC) c.96+259_96+267delinsGGCGGCCCC (n.96+259_96+267delinsGGCGGCCCC) n.502_510delinsGGCGGCCCC c.129_137delinsGGCGGCCCC (p.Pro43=) | |
| 17 | g.7676118_7676125del | CA913191059 | TP53 | c.246_253del (p.Ala83CysfsTer?) c.-21-887_-21-880del (n.-21-887_-21-880del) c.96+259_96+266del (n.96+259_96+266del) n.502_509del c.129_136del (p.Ala44CysfsTer?) | ClinVar dbSNP |
| 17 | g.7676119_7676179del | CA645589349 | TP53 | c.193_253del (p.Arg65LeufsTer?) c.-21-940_-21-880del (n.-21-940_-21-880del) c.96+206_96+266del (n.96+206_96+266del) n.449_509del c.76_136del (p.Arg26LeufsTer?) | COSMIC |
| 17 | g.7676119_7676121delinsCCG | CA2245934327 | TP53 | c.248_250delinsCGG (p.Ala83=) c.-21-885_-21-883delinsCGG (n.-21-885_-21-883delinsCGG) c.96+261_96+263delinsCGG (n.96+261_96+263delinsCGG) n.504_506delinsCGG c.131_133delinsCGG (p.Ala44=) | |
| 17 | g.7676120_7676123del | CA645589352 | TP53 | c.247_250del (p.Ala83ProfsTer?) c.-21-886_-21-883del (n.-21-886_-21-883del) c.96+260_96+263del (n.96+260_96+263del) n.503_506del c.130_133del (p.Ala44ProfsTer?) | COSMIC |
| 17 | g.7676121_7676122del | CA645369691 | TP53 | c.248_249del (p.Ala83GlyfsTer?) c.-21-885_-21-884del (n.-21-885_-21-884del) c.96+261_96+262del (n.96+261_96+262del) n.504_505del c.131_132del (p.Ala44GlyfsTer?) | ClinVar dbSNP COSMIC |
| 17 | g.7676121G>A | CA000083 | TP53 | c.248C>T (p.Ala83Val) c.-21-885C>T (n.-21-885C>T) c.96+261C>T (n.96+261C>T) n.504C>T c.131C>T (p.Ala44Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7676121G>C | CA397845490 | TP53 | c.248C>G (p.Ala83Gly) c.-21-885C>G (n.-21-885C>G) c.96+261C>G (n.96+261C>G) n.504C>G c.131C>G (p.Ala44Gly) | dbSNP |
| 17 | g.7676121G= | CA2245934361 | TP53 | c.248C= (p.Ala83=) c.-21-885C= (n.-21-885C=) c.96+261C= (n.96+261C=) n.504C= c.131C= (p.Ala44=) | |
| 17 | g.7676121G>T | CA000082 | TP53 | c.248C>A (p.Ala83Glu) c.-21-885C>A (n.-21-885C>A) c.96+261C>A (n.96+261C>A) n.504C>A c.131C>A (p.Ala44Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7676121_7676122delinsGC | CA2245934372 | TP53 | c.247_248delinsGC (p.Ala83=) c.-21-886_-21-885delinsGC (n.-21-886_-21-885delinsGC) c.96+260_96+261delinsGC (n.96+260_96+261delinsGC) n.503_504delinsGC c.130_131delinsGC (p.Ala44=) | |
| 17 | g.7676122C>A | CA397845499 | TP53 | c.247G>T (p.Ala83Ser) c.-21-886G>T (n.-21-886G>T) c.96+260G>T (n.96+260G>T) n.503G>T c.130G>T (p.Ala44Ser) | |
| 17 | g.7676122C>G | CA397845501 | TP53 | c.247G>C (p.Ala83Pro) c.-21-886G>C (n.-21-886G>C) c.96+260G>C (n.96+260G>C) n.503G>C c.130G>C (p.Ala44Pro) | dbSNP |
| 17 | g.7676122C>T | CA397845502 | TP53 | c.247G>A (p.Ala83Thr) c.-21-886G>A (n.-21-886G>A) c.96+260G>A (n.96+260G>A) n.503G>A c.130G>A (p.Ala44Thr) | ClinVar dbSNP |
| 17 | g.7676123dup | CA287489068 | TP53 | c.247dup (p.Ala83GlyfsTer?) c.-21-886dup (n.-21-886dup) c.96+260dup (n.96+260dup) n.503dup c.130dup (p.Ala44GlyfsTer?) | dbSNP |
| 17 | g.7676123del | CA913191060 | TP53 | c.247del (p.Ala83ArgfsTer?) c.-21-886del (n.-21-886del) c.96+260del (n.96+260del) n.503del c.130del (p.Ala44ArgfsTer?) | ClinVar dbSNP |
| 17 | g.7676123C>A | CA497925952 | TP53 | c.246G>T (p.Pro82=) c.-21-887G>T (n.-21-887G>T) c.96+259G>T (n.96+259G>T) n.502G>T c.129G>T (p.Pro43=) | ClinVar dbSNP |
| 17 | g.7676123C= | CA2245934386 | TP53 | c.246G= (p.Pro82=) c.-21-887G= (n.-21-887G=) c.96+259G= (n.96+259G=) n.502G= c.129G= (p.Pro43=) | |
| 17 | g.7676123C>G | CA497925953 | TP53 | c.246G>C (p.Pro82=) c.-21-887G>C (n.-21-887G>C) c.96+259G>C (n.96+259G>C) n.502G>C c.129G>C (p.Pro43=) | ClinVar dbSNP |
| 17 | g.7676123C>T | CA000081 | TP53 | c.246G>A (p.Pro82=) c.-21-887G>A (n.-21-887G>A) c.96+259G>A (n.96+259G>A) n.502G>A c.129G>A (p.Pro43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7676124G>A | CA000080 | TP53 | c.245C>T (p.Pro82Leu) c.-21-888C>T (n.-21-888C>T) c.96+258C>T (n.96+258C>T) n.501C>T c.128C>T (p.Pro43Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.7676124G>C | CA397845507 | TP53 | c.245C>G (p.Pro82Arg) c.-21-888C>G (n.-21-888C>G) c.96+258C>G (n.96+258C>G) n.501C>G c.128C>G (p.Pro43Arg) | ClinVar dbSNP |
| 17 | g.7676124G= | CA2245934404 | TP53 | c.245C= (p.Pro82=) c.-21-888C= (n.-21-888C=) c.96+258C= (n.96+258C=) n.501C= c.128C= (p.Pro43=) | |
| 17 | g.7676124G>T | CA397845510 | TP53 | c.245C>A (p.Pro82Gln) c.-21-888C>A (n.-21-888C>A) c.96+258C>A (n.96+258C>A) n.501C>A c.128C>A (p.Pro43Gln) | dbSNP |
| 17 | g.7676125del | CA645589353 | TP53 | c.245del (p.Pro82ArgfsTer?) c.-21-888del (n.-21-888del) c.96+258del (n.96+258del) n.501del c.128del (p.Pro43ArgfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7676126_7676131dup | CA2697552148 | TP53 | c.240_245dup (p.Pro82_Ala83insThrPro) c.-21-893_-21-888dup (n.-21-893_-21-888dup) c.96+253_96+258dup (n.96+253_96+258dup) n.496_501dup c.123_128dup (p.Pro43_Ala44insThrPro) | ClinVar |
| 17 | g.7676125_7676131del | CA645589354 | TP53 | c.239_245del (p.Pro80ArgfsTer?) c.-21-894_-21-888del (n.-21-894_-21-888del) c.96+252_96+258del (n.96+252_96+258del) n.495_501del c.122_128del (p.Pro41ArgfsTer?) | COSMIC |
| 17 | g.7676125G>A | CA397845521 | TP53 | c.244C>T (p.Pro82Ser) c.-21-889C>T (n.-21-889C>T) c.96+257C>T (n.96+257C>T) n.500C>T c.127C>T (p.Pro43Ser) | ClinVar dbSNP gnomAD v4 |