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.7675205_7675996del | CA645589165 | TP53 | c.375_409del c.-21-758_13del c.96+388_130del c.375_388del n.631_665del c.258_292del c.340+31_376del | 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.7675505_7676086del | CA2580095057 | TP53 | c.283_376-269del c.-21-850_-21-269del (n.-21-850_-21-269del) c.96+296_97-269del (n.96+296_97-269del) c.283_376-290del n.539_632-269del c.166_259-269del c.283_341-267del | ClinVar |
17 | g.7675969_7675995del | CA2695202526 | TP53 | c.375_375+26del c.-21-758_-21-732del (n.-21-758_-21-732del) c.96+388_96+414del (n.96+388_96+414del) n.631_631+26del c.258_258+26del c.340+31_340+57del (n.340+31_340+57del) | |
17 | g.7675972_7676086delinsCCAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGA | CA2245932234 | TP53 | c.283_375+22delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG c.-21-850_-21-736delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG (n.-21-850_-21-736delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG) c.96+296_96+410delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG (n.96+296_96+410delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG) n.539_631+22delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG c.166_258+22delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG c.283_340+53delinsTCTTCTGTCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTTTCCGTCTGGGCTTCTTGCATTCTGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGGGCTGG | |
17 | g.7675973_7676086del | CA16615710 | TP53 | c.283_375+21del c.-21-850_-21-737del (n.-21-850_-21-737del) c.96+296_96+409del (n.96+296_96+409del) n.539_631+21del c.166_258+21del c.283_340+52del | ClinVar dbSNP |
17 | g.7675977_7675994del | CA645589226 | TP53 | c.375+1_375+18del c.-21-757_-21-740del (n.-21-757_-21-740del) c.96+389_96+406del (n.96+389_96+406del) n.631+1_631+18del c.258+1_258+18del c.340+32_340+49del (n.340+32_340+49del) | COSMIC |
17 | g.7675980_7675993del | CA2499224977 | TP53 | c.375+2_375+15del (n.375+2_375+15del) c.-21-756_-21-743del (n.-21-756_-21-743del) c.96+390_96+403del (n.96+390_96+403del) n.631+2_631+15del c.258+2_258+15del (n.258+2_258+15del) c.340+33_340+46del (n.340+33_340+46del) | ClinVar dbSNP |
17 | g.7675982_7676013del | CA645589229 | TP53 | c.356_375+12del c.-21-777_-21-746del (n.-21-777_-21-746del) c.96+369_96+400del (n.96+369_96+400del) n.612_631+12del c.239_258+12del c.340+12_340+43del (n.340+12_340+43del) | COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675985_7675995del | CA645589230 | TP53 | c.375_375+10del c.-21-758_-21-748del (n.-21-758_-21-748del) c.96+388_96+398del (n.96+388_96+398del) n.631_631+10del c.258_258+10del c.340+31_340+41del (n.340+31_340+41del) | COSMIC |
17 | g.7675987_7675995del | CA2695223127 | TP53 | c.374_375+7del c.-21-759_-21-751del (n.-21-759_-21-751del) c.96+387_96+395del (n.96+387_96+395del) n.630_631+7del c.257_258+7del c.340+30_340+38del (n.340+30_340+38del) | |
17 | g.7675990_7675994dup | CA658656629 | TP53 | c.375+1_375+5dup c.-21-757_-21-753dup (n.-21-757_-21-753dup) c.96+389_96+393dup (n.96+389_96+393dup) n.631+1_631+5dup c.258+1_258+5dup c.340+32_340+36dup (n.340+32_340+36dup) | ClinVar dbSNP |
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.7675992A= | CA2245932388 | TP53 | c.375+2T= (n.375+2T=) c.-21-756T= (n.-21-756T=) c.96+390T= (n.96+390T=) n.631+2T= c.258+2T= (n.258+2T=) c.340+33T= (n.340+33T=) | |
17 | g.7675992A>C | CA397844129 | TP53 | c.375+2T>G (n.375+2T>G) c.-21-756T>G (n.-21-756T>G) c.96+390T>G (n.96+390T>G) n.631+2T>G c.258+2T>G (n.258+2T>G) c.340+33T>G (n.340+33T>G) | ClinVar dbSNP gnomAD v4 |
17 | g.7675992A>G | CA397844132 | TP53 | c.375+2T>C (n.375+2T>C) c.-21-756T>C (n.-21-756T>C) c.96+390T>C (n.96+390T>C) n.631+2T>C c.258+2T>C (n.258+2T>C) c.340+33T>C (n.340+33T>C) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675992A>T | CA397844133 | TP53 | c.375+2T>A (n.375+2T>A) c.-21-756T>A (n.-21-756T>A) c.96+390T>A (n.96+390T>A) n.631+2T>A c.258+2T>A (n.258+2T>A) c.340+33T>A (n.340+33T>A) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675992dup | CA645589235 | TP53 | c.375+2dup (n.375+2dup) c.-21-756dup (n.-21-756dup) c.96+390dup (n.96+390dup) n.631+2dup c.258+2dup (n.258+2dup) c.340+33dup (n.340+33dup) | COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675993C>A | CA397844143 | TP53 | c.375+1G>T (n.375+1G>T) c.-21-757G>T (n.-21-757G>T) c.96+389G>T (n.96+389G>T) n.631+1G>T c.258+1G>T (n.258+1G>T) c.340+32G>T (n.340+32G>T) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675993C= | CA2245932412 | TP53 | c.375+1G= (n.375+1G=) c.-21-757G= (n.-21-757G=) c.96+389G= (n.96+389G=) n.631+1G= c.258+1G= (n.258+1G=) c.340+32G= (n.340+32G=) | |
17 | g.7675993C>G | CA397844135 | TP53 | c.375+1G>C (n.375+1G>C) c.-21-757G>C (n.-21-757G>C) c.96+389G>C (n.96+389G>C) n.631+1G>C c.258+1G>C (n.258+1G>C) c.340+32G>C (n.340+32G>C) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675993C>T | CA397844139 | TP53 | c.375+1G>A (n.375+1G>A) c.-21-757G>A (n.-21-757G>A) c.96+389G>A (n.96+389G>A) n.631+1G>A c.258+1G>A (n.258+1G>A) c.340+32G>A (n.340+32G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675993_7675994delinsAT | CA645589236 | TP53 | c.375_375+1delinsAT c.-21-758_-21-757delinsAT (n.-21-758_-21-757delinsAT) c.96+388_96+389delinsAT (n.96+388_96+389delinsAT) n.631_631+1delinsAT c.258_258+1delinsAT c.340+31_340+32delinsAT (n.340+31_340+32delinsAT) | COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675994dup | CA658798706 | TP53 | c.375+1dup c.-21-757dup (n.-21-757dup) c.96+389dup (n.96+389dup) n.631+1dup c.258+1dup c.340+32dup (n.340+32dup) | ClinVar dbSNP |
17 | g.7675994del | CA497926316 | TP53 | c.375+1del c.-21-757del (n.-21-757del) c.96+389del (n.96+389del) n.631+1del c.258+1del c.340+32del (n.340+32del) | ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675995_7676057del | CA645589237 | TP53 | c.314_375+1del c.-21-819_-21-757del (n.-21-819_-21-757del) c.96+327_96+389del (n.96+327_96+389del) n.570_631+1del c.197_258+1del c.314_340+32del | COSMIC |
17 | g.7675994C>A | CA10575452 | TP53 | c.375G>T (p.Thr125=) c.-21-758G>T (n.-21-758G>T) c.96+388G>T (n.96+388G>T) n.631G>T c.258G>T (p.Thr86=) c.340+31G>T (n.340+31G>T) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675994C= | CA2245932443 | TP53 | c.375G= (p.Thr125=) c.-21-758G= (n.-21-758G=) c.96+388G= (n.96+388G=) n.631G= c.258G= (p.Thr86=) c.340+31G= (n.340+31G=) | |
17 | g.7675994C>G | CA497926317 | TP53 | c.375G>C (p.Thr125=) c.-21-758G>C (n.-21-758G>C) c.96+388G>C (n.96+388G>C) n.631G>C c.258G>C (p.Thr86=) c.340+31G>C (n.340+31G>C) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675994C>T | CA000144 | TP53 | c.375G>A (p.Thr125=) c.-21-758G>A (n.-21-758G>A) c.96+388G>A (n.96+388G>A) n.631G>A c.258G>A (p.Thr86=) c.340+31G>A (n.340+31G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675995_7676052del | CA645589238 | TP53 | c.318_375del (p.Tyr107ThrfsTer?) c.-21-815_-21-758del (n.-21-815_-21-758del) c.96+331_96+388del (n.96+331_96+388del) c.318_375del (p.Ser106ArgfsTer?) n.574_631del c.201_258del (p.Tyr68ThrfsTer?) c.318_340+31del | COSMIC |
17 | g.7675995G>A | CA000140 | TP53 | c.374C>T (p.Thr125Met) c.-21-759C>T (n.-21-759C>T) c.96+387C>T (n.96+387C>T) n.630C>T c.257C>T (p.Thr86Met) c.340+30C>T (n.340+30C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675995G>C | CA16044089 | TP53 | c.374C>G (p.Thr125Arg) c.-21-759C>G (n.-21-759C>G) c.96+387C>G (n.96+387C>G) n.630C>G c.257C>G (p.Thr86Arg) c.340+30C>G (n.340+30C>G) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675995G= | CA2245932459 | TP53 | c.374C= (p.Thr125=) c.-21-759C= (n.-21-759C=) c.96+387C= (n.96+387C=) n.630C= c.257C= (p.Thr86=) c.340+30C= (n.340+30C=) | |
17 | g.7675995G>T | CA337257 | TP53 | c.374C>A (p.Thr125Lys) c.-21-759C>A (n.-21-759C>A) c.96+387C>A (n.96+387C>A) n.630C>A c.257C>A (p.Thr86Lys) c.340+30C>A (n.340+30C>A) | ClinVar dbSNP COSMIC COSMIC COSMIC |
17 | g.7675996_7676007del | CA2580095078 | TP53 | c.363_374del (p.Val122_Thr125del) c.-21-770_-21-759del (n.-21-770_-21-759del) c.96+376_96+387del (n.96+376_96+387del) n.619_630del c.246_257del (p.Val83_Thr86del) c.340+19_340+30del (n.340+19_340+30del) | ClinVar |
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.7675996del | CA497925846 | TP53 | c.373del (p.Thr125ArgfsTer?) c.-21-760del (n.-21-760del) c.96+386del (n.96+386del) n.629del c.256del (p.Thr86ArgfsTer?) c.340+29del (n.340+29del) | COSMIC |
17 | g.7675996T>A | CA397844190 | TP53 | c.373A>T (p.Thr125Ser) c.-21-760A>T (n.-21-760A>T) c.96+386A>T (n.96+386A>T) n.629A>T c.256A>T (p.Thr86Ser) c.340+29A>T (n.340+29A>T) | dbSNP |
17 | g.7675996T>C | CA397844193 | TP53 | c.373A>G (p.Thr125Ala) c.-21-760A>G (n.-21-760A>G) c.96+386A>G (n.96+386A>G) n.629A>G c.256A>G (p.Thr86Ala) c.340+29A>G (n.340+29A>G) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675996T>G | CA16603081 | TP53 | c.373A>C (p.Thr125Pro) c.-21-760A>C (n.-21-760A>C) c.96+386A>C (n.96+386A>C) n.629A>C c.256A>C (p.Thr86Pro) c.340+29A>C (n.340+29A>C) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
17 | g.7675996T= | CA2245932482 | TP53 | c.373A= (p.Thr125=) c.-21-760A= (n.-21-760A=) c.96+386A= (n.96+386A=) n.629A= c.256A= (p.Thr86=) c.340+29A= (n.340+29A=) | |
17 | g.7676007_7676008insTTGCAAGTCACAG | CA916081947 | TP53 | c.373_374insACTGTGACTTGCA (p.Thr125AsnfsTer28) c.-21-760_-21-759insACTGTGACTTGCA (n.-21-760_-21-759insACTGTGACTTGCA) c.96+386_96+387insACTGTGACTTGCA (n.96+386_96+387insACTGTGACTTGCA) c.373_374insACTGTGACTTGCA (p.Thr125AsnfsTer21) c.373_374insACTGTGACTTGCA (p.Thr125AsnfsTer?) n.629_630insACTGTGACTTGCA c.256_257insACTGTGACTTGCA (p.Thr86AsnfsTer28) c.340+29_340+30insACTGTGACTTGCA (n.340+29_340+30insACTGTGACTTGCA) | ClinVar dbSNP |
17 | g.7675997del | CA497925847 | TP53 | c.372del (p.Cys124Ter) c.-21-761del (n.-21-761del) c.96+385del (n.96+385del) n.628del c.255del (p.Cys85Ter) c.340+28del (n.340+28del) | ClinVar COSMIC |
17 | g.7675997G>A | CA497925848 | TP53 | c.372C>T (p.Cys124=) c.-21-761C>T (n.-21-761C>T) c.96+385C>T (n.96+385C>T) n.628C>T c.255C>T (p.Cys85=) c.340+28C>T (n.340+28C>T) | ClinVar |
17 | g.7675997G>C | CA397844200 | TP53 | c.372C>G (p.Cys124Trp) c.-21-761C>G (n.-21-761C>G) c.96+385C>G (n.96+385C>G) n.628C>G c.255C>G (p.Cys85Trp) c.340+28C>G (n.340+28C>G) |