| 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.7674965_7675432del | CA1139665126 | TP53 | c.376-196_566del c.-21-196_170del c.97-196_287del c.376-217_545del c.-217_170del n.632-196_822del c.259-196_449del c.-298_89del c.341-194_533del | ClinVar |
| 17 | g.7675157_7675190del | CA891842260 | TP53 | c.426_459del (p.Val143AlafsTer16) c.30_63del (p.Val11AlafsTer16) c.147_180del (p.Val50AlafsTer16) c.405_438del (p.Val136AlafsTer16) n.682_715del c.426_459del (p.Val143AlafsTer?) c.309_342del (p.Val104AlafsTer16) c.-52_-19del (n.-52_-19del) c.393_426del (p.Val132AlafsTer16) | |
| 17 | g.7675156_7675188del | CA645589081 | TP53 | c.426_458del (p.Val143_Pro153del) c.30_62del (p.Val11_Pro21del) c.147_179del (p.Val50_Pro60del) c.405_437del (p.Val136_Pro146del) n.682_714del c.309_341del (p.Val104_Pro114del) c.-52_-20del (n.-52_-20del) c.393_425del (p.Val132_Pro142del) | COSMIC |
| 17 | g.7675158_7675194del | CA2695223108 | TP53 | c.418_454del (p.Thr140ArgfsTer18) c.22_58del (p.Thr8ArgfsTer18) c.139_175del (p.Thr47ArgfsTer18) c.397_433del (p.Thr133ArgfsTer18) n.674_710del c.418_454del (p.Thr140ArgfsTer?) c.301_337del (p.Thr101ArgfsTer18) c.-60_-24del (n.-60_-24del) c.385_421del (p.Thr129ArgfsTer18) | |
| 17 | g.7675167_7675187del | CA645589100 | TP53 | c.426_446del (p.Val143_Ser149del) c.30_50del (p.Val11_Ser17del) c.147_167del (p.Val50_Ser56del) c.405_425del (p.Val136_Ser142del) n.682_702del c.309_329del (p.Val104_Ser110del) c.-52_-32del (n.-52_-32del) c.393_413del (p.Val132_Ser138del) | COSMIC |
| 17 | g.7675174_7675203del | CA645589114 | TP53 | c.409_438del (p.Leu137_Trp146del) c.13_42del (p.Leu5_Trp14del) c.130_159del (p.Leu44_Trp53del) c.388_417del (p.Leu130_Trp139del) n.665_694del c.292_321del (p.Leu98_Trp107del) c.-69_-40del (n.-69_-40del) c.376_405del (p.Leu126_Trp135del) | COSMIC |
| 17 | g.7675180_7675188del | CA645589122 | TP53 | c.425_433del (p.Pro142_Gln144del) c.29_37del (p.Pro10_Gln12del) c.146_154del (p.Pro49_Gln51del) c.404_412del (p.Pro135_Gln137del) n.681_689del c.308_316del (p.Pro103_Gln105del) c.-53_-45del (n.-53_-45del) c.392_400del (p.Pro131_Gln133del) | COSMIC |
| 17 | g.7675181_7675192del | CA2580095004 | TP53 | c.420_431del (p.Cys141_Gln144del) c.24_35del (p.Cys9_Gln12del) c.141_152del (p.Cys48_Gln51del) c.399_410del (p.Cys134_Gln137del) n.676_687del c.303_314del (p.Cys102_Gln105del) c.-58_-47del (n.-58_-47del) c.387_398del (p.Cys130_Gln133del) | ClinVar |
| 17 | g.7675181_7675193delinsTGCACAGGGCAGG | CA2245929492 | TP53 | c.419_431delinsCCTGCCCTGTGCA (p.Thr140=) c.23_35delinsCCTGCCCTGTGCA (p.Thr8=) c.140_152delinsCCTGCCCTGTGCA (p.Thr47=) c.398_410delinsCCTGCCCTGTGCA (p.Thr133=) n.675_687delinsCCTGCCCTGTGCA c.302_314delinsCCTGCCCTGTGCA (p.Thr101=) c.-59_-47delinsCCTGCCCTGTGCA (n.-59_-47delinsCCTGCCCTGTGCA) c.386_398delinsCCTGCCCTGTGCA (p.Thr129=) | |
| 17 | g.7675182_7675193del | CA2245929519 | TP53 | c.419_430del (p.Thr140_Gln144delinsLys) c.23_34del (p.Thr8_Gln12delinsLys) c.140_151del (p.Thr47_Gln51delinsLys) c.398_409del (p.Thr133_Gln137delinsLys) n.675_686del c.302_313del (p.Thr101_Gln105delinsLys) c.-59_-48del (n.-59_-48del) c.386_397del (p.Thr129_Gln133delinsLys) | ClinVar dbSNP |
| 17 | g.7675184_7675200del | CA645589128 | TP53 | c.414_430del (p.Lys139AlafsTer4) c.18_34del (p.Lys7AlafsTer4) c.135_151del (p.Lys46AlafsTer4) c.393_409del (p.Lys132AlafsTer4) n.670_686del c.297_313del (p.Lys100AlafsTer4) c.-64_-48del (n.-64_-48del) c.381_397del (p.Lys128AlafsTer4) | COSMIC |
| 17 | g.7675185_7675202del | CA645589131 | TP53 | c.412_429del (p.Ala138_Val143del) c.16_33del (p.Ala6_Val11del) c.133_150del (p.Ala45_Val50del) c.391_408del (p.Ala131_Val136del) n.668_685del c.295_312del (p.Ala99_Val104del) c.-66_-49del (n.-66_-49del) c.379_396del (p.Ala127_Val132del) | COSMIC |
| 17 | g.7675184del | CA2697552109 | TP53 | c.428del (p.Val143GlyfsTer27) c.32del (p.Val11GlyfsTer27) c.149del (p.Val50GlyfsTer27) c.407del (p.Val136GlyfsTer27) n.684del c.428del (p.Val143GlyfsTer?) c.407del (p.Val136GlyfsTer?) c.311del (p.Val104GlyfsTer27) c.-50del (n.-50del) c.395del (p.Val132GlyfsTer27) | ClinVar |
| 17 | g.7675184A= | CA2245929570 | TP53 | c.428T= (p.Val143=) c.32T= (p.Val11=) c.149T= (p.Val50=) c.407T= (p.Val136=) n.684T= c.311T= (p.Val104=) c.-50T= (n.-50T=) c.395T= (p.Val132=) | |
| 17 | g.7675184A>C | CA397842510 | TP53 | c.428T>G (p.Val143Gly) c.32T>G (p.Val11Gly) c.149T>G (p.Val50Gly) c.407T>G (p.Val136Gly) n.684T>G c.311T>G (p.Val104Gly) c.-50T>G (n.-50T>G) c.395T>G (p.Val132Gly) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675184A>G | CA397842518 | TP53 | c.428T>C (p.Val143Ala) c.32T>C (p.Val11Ala) c.149T>C (p.Val50Ala) c.407T>C (p.Val136Ala) n.684T>C c.311T>C (p.Val104Ala) c.-50T>C (n.-50T>C) c.395T>C (p.Val132Ala) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675184A>T | CA397842529 | TP53 | c.428T>A (p.Val143Glu) c.32T>A (p.Val11Glu) c.149T>A (p.Val50Glu) c.407T>A (p.Val136Glu) n.684T>A c.311T>A (p.Val104Glu) c.-50T>A (n.-50T>A) c.395T>A (p.Val132Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675184dup | CA2697552110 | TP53 | c.428dup (p.Gln144AlafsTer5) c.32dup (p.Gln12AlafsTer5) c.149dup (p.Gln51AlafsTer5) c.407dup (p.Gln137AlafsTer5) n.684dup c.311dup (p.Gln105AlafsTer5) c.-50dup (n.-50dup) c.395dup (p.Gln133AlafsTer5) | ClinVar |
| 17 | g.7675184_7675186delinsTG | CA2580095008 | TP53 | c.426_428delinsCA (p.Val143SerfsTer27) c.30_32delinsCA (p.Val11SerfsTer27) c.147_149delinsCA (p.Val50SerfsTer27) c.405_407delinsCA (p.Val136SerfsTer27) n.682_684delinsCA c.426_428delinsCA (p.Val143SerfsTer?) c.405_407delinsCA (p.Val136SerfsTer?) c.309_311delinsCA (p.Val104SerfsTer27) c.-52_-50delinsCA (n.-52_-50delinsCA) c.393_395delinsCA (p.Val132SerfsTer27) | ClinVar |
| 17 | g.7675184_7675191del | CA645589133 | TP53 | c.421_428del (p.Cys141AlafsTer5) c.25_32del (p.Cys9AlafsTer5) c.142_149del (p.Cys48AlafsTer5) c.400_407del (p.Cys134AlafsTer5) n.677_684del c.304_311del (p.Cys102AlafsTer5) c.-57_-50del (n.-57_-50del) c.388_395del (p.Cys130AlafsTer5) | COSMIC |
| 17 | g.7675184_7675185insG | CA2697552111 | TP53 | c.427_428insC (p.Val143AlafsTer6) c.31_32insC (p.Val11AlafsTer6) c.148_149insC (p.Val50AlafsTer6) c.406_407insC (p.Val136AlafsTer6) n.683_684insC c.310_311insC (p.Val104AlafsTer6) c.-51_-50insC (n.-51_-50insC) c.394_395insC (p.Val132AlafsTer6) | ClinVar |
| 17 | g.7675185del | CA497925693 | TP53 | c.427del (p.Val143CysfsTer27) c.31del (p.Val11CysfsTer27) c.148del (p.Val50CysfsTer27) c.406del (p.Val136CysfsTer27) n.683del c.427del (p.Val143CysfsTer?) c.406del (p.Val136CysfsTer?) c.310del (p.Val104CysfsTer27) c.-51del (n.-51del) c.394del (p.Val132CysfsTer27) | ClinVar COSMIC |
| 17 | g.7675185C>A | CA000178 | TP53 | c.427G>T (p.Val143Leu) c.31G>T (p.Val11Leu) c.148G>T (p.Val50Leu) c.406G>T (p.Val136Leu) n.683G>T c.310G>T (p.Val104Leu) c.-51G>T (n.-51G>T) c.394G>T (p.Val132Leu) | ClinVar dbSNP COSMIC |
| 17 | g.7675185C= | CA2245929605 | TP53 | c.427G= (p.Val143=) c.31G= (p.Val11=) c.148G= (p.Val50=) c.406G= (p.Val136=) n.683G= c.310G= (p.Val104=) c.-51G= (n.-51G=) c.394G= (p.Val132=) | |
| 17 | g.7675185C>G | CA397842536 | TP53 | c.427G>C (p.Val143Leu) c.31G>C (p.Val11Leu) c.148G>C (p.Val50Leu) c.406G>C (p.Val136Leu) n.683G>C c.310G>C (p.Val104Leu) c.-51G>C (n.-51G>C) c.394G>C (p.Val132Leu) | ClinVar dbSNP COSMIC |
| 17 | g.7675185C>T | CA000176 | TP53 | c.427G>A (p.Val143Met) c.31G>A (p.Val11Met) c.148G>A (p.Val50Met) c.406G>A (p.Val136Met) n.683G>A c.310G>A (p.Val104Met) c.-51G>A (n.-51G>A) c.394G>A (p.Val132Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675186_7675195del | CA891842262 | TP53 | c.418_427del (p.Thr140CysfsTer27) c.22_31del (p.Thr8CysfsTer27) c.139_148del (p.Thr47CysfsTer27) c.397_406del (p.Thr133CysfsTer27) n.674_683del c.418_427del (p.Thr140CysfsTer?) c.397_406del (p.Thr133CysfsTer?) c.301_310del (p.Thr101CysfsTer27) c.-60_-51del (n.-60_-51del) c.385_394del (p.Thr129CysfsTer27) | ClinVar |
| 17 | g.7675185_7675222delinsCAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTG | CA2245929617 | TP53 | c.390_427delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu130=) c.-7_31delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG c.111_148delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu37=) c.376-7_406delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG n.646_683delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG c.273_310delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu91=) c.-88_-51delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (n.-88_-51delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG) c.357_394delinsCAACAAGATGTTTTGCCAACTGGCCAAGACCTGCCCTG (p.Leu119=) | |
| 17 | g.7675185_7675186insG | CA645589137 | TP53 | c.426_427insC (p.Val143ArgfsTer6) c.30_31insC (p.Val11ArgfsTer6) c.147_148insC (p.Val50ArgfsTer6) c.405_406insC (p.Val136ArgfsTer6) n.682_683insC c.309_310insC (p.Val104ArgfsTer6) c.-52_-51insC (n.-52_-51insC) c.393_394insC (p.Val132ArgfsTer6) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675186A>C | CA497925694 | TP53 | c.426T>G (p.Pro142=) c.30T>G (p.Pro10=) c.147T>G (p.Pro49=) c.405T>G (p.Pro135=) n.682T>G c.309T>G (p.Pro103=) c.-52T>G (n.-52T>G) c.393T>G (p.Pro131=) | |
| 17 | g.7675186A>G | CA497925695 | TP53 | c.426T>C (p.Pro142=) c.30T>C (p.Pro10=) c.147T>C (p.Pro49=) c.405T>C (p.Pro135=) n.682T>C c.309T>C (p.Pro103=) c.-52T>C (n.-52T>C) c.393T>C (p.Pro131=) | ClinVar COSMIC |
| 17 | g.7675186A>T | CA497925696 | TP53 | c.426T>A (p.Pro142=) c.30T>A (p.Pro10=) c.147T>A (p.Pro49=) c.405T>A (p.Pro135=) n.682T>A c.309T>A (p.Pro103=) c.-52T>A (n.-52T>A) c.393T>A (p.Pro131=) | COSMIC |
| 17 | g.7675186_7675198delinsAGGGCAGGTCTTG | CA2245929636 | TP53 | c.414_426delinsCAAGACCTGCCCT (p.Ala138=) c.18_30delinsCAAGACCTGCCCT (p.Ala6=) c.135_147delinsCAAGACCTGCCCT (p.Ala45=) c.393_405delinsCAAGACCTGCCCT (p.Ala131=) n.670_682delinsCAAGACCTGCCCT c.297_309delinsCAAGACCTGCCCT (p.Ala99=) c.-64_-52delinsCAAGACCTGCCCT (n.-64_-52delinsCAAGACCTGCCCT) c.381_393delinsCAAGACCTGCCCT (p.Ala127=) | |
| 17 | g.7675194_7675230del | CA645589135 | TP53 | c.390_426del (p.Asn131CysfsTer27) c.-7_30del c.111_147del (p.Asn38CysfsTer27) c.376-7_405del n.646_682del c.390_426del (p.Asn131CysfsTer?) c.273_309del (p.Asn92CysfsTer27) c.-88_-52del (n.-88_-52del) c.357_393del (p.Asn120CysfsTer27) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675187G>A | CA002608 | TP53 | c.425C>T (p.Pro142Leu) c.29C>T (p.Pro10Leu) c.146C>T (p.Pro49Leu) c.404C>T (p.Pro135Leu) n.681C>T c.308C>T (p.Pro103Leu) c.-53C>T (n.-53C>T) c.392C>T (p.Pro131Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7675187G>C | CA397842540 | TP53 | c.425C>G (p.Pro142Arg) c.29C>G (p.Pro10Arg) c.146C>G (p.Pro49Arg) c.404C>G (p.Pro135Arg) n.681C>G c.308C>G (p.Pro103Arg) c.-53C>G (n.-53C>G) c.392C>G (p.Pro131Arg) | gnomAD v4 |
| 17 | g.7675187G= | CA2245929646 | TP53 | c.425C= (p.Pro142=) c.29C= (p.Pro10=) c.146C= (p.Pro49=) c.404C= (p.Pro135=) n.681C= c.308C= (p.Pro103=) c.-53C= (n.-53C=) c.392C= (p.Pro131=) | |
| 17 | g.7675187G>T | CA397842541 | TP53 | c.425C>A (p.Pro142His) c.29C>A (p.Pro10His) c.146C>A (p.Pro49His) c.404C>A (p.Pro135His) n.681C>A c.308C>A (p.Pro103His) c.-53C>A (n.-53C>A) c.392C>A (p.Pro131His) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675187_7675188delinsAA | CA645589139 | TP53 | c.424_425delinsTT (p.Pro142Phe) c.28_29delinsTT (p.Pro10Phe) c.145_146delinsTT (p.Pro49Phe) c.403_404delinsTT (p.Pro135Phe) n.680_681delinsTT c.307_308delinsTT (p.Pro103Phe) c.-54_-53delinsTT (n.-54_-53delinsTT) c.391_392delinsTT (p.Pro131Phe) | COSMIC |
| 17 | g.7675187_7675189del | CA645589141 | TP53 | c.423_425del (p.Pro142del) c.27_29del (p.Pro10del) c.144_146del (p.Pro49del) c.402_404del (p.Pro135del) n.679_681del c.306_308del (p.Pro103del) c.-55_-53del (n.-55_-53del) c.390_392del (p.Pro131del) | COSMIC |
| 17 | g.7675189del | CA497925697 | TP53 | c.425del (p.Pro142LeufsTer28) c.29del (p.Pro10LeufsTer28) c.146del (p.Pro49LeufsTer28) c.404del (p.Pro135LeufsTer28) n.681del c.425del (p.Pro142LeufsTer?) c.404del (p.Pro135LeufsTer?) c.308del (p.Pro103LeufsTer28) c.-53del (n.-53del) c.392del (p.Pro131LeufsTer28) | ClinVar dbSNP COSMIC |
| 17 | g.7675188_7675189del | CA2697552112 | TP53 | c.424_425del (p.Pro142CysfsTer6) c.28_29del (p.Pro10CysfsTer6) c.145_146del (p.Pro49CysfsTer6) c.403_404del (p.Pro135CysfsTer6) n.680_681del c.307_308del (p.Pro103CysfsTer6) c.-54_-53del (n.-54_-53del) c.391_392del (p.Pro131CysfsTer6) | ClinVar |
| 17 | g.7675187_7675193del | CA645589140 | TP53 | c.419_425del (p.Thr140MetfsTer28) c.23_29del (p.Thr8MetfsTer28) c.140_146del (p.Thr47MetfsTer28) c.398_404del (p.Thr133MetfsTer28) n.675_681del c.419_425del (p.Thr140MetfsTer?) c.398_404del (p.Thr133MetfsTer?) c.302_308del (p.Thr101MetfsTer28) c.-59_-53del (n.-59_-53del) c.386_392del (p.Thr129MetfsTer28) | COSMIC |
| 17 | g.7675188_7675199del | CA624865027 | TP53 | c.414_425del (p.Lys139_Pro142del) c.18_29del (p.Lys7_Pro10del) c.135_146del (p.Lys46_Pro49del) c.393_404del (p.Lys132_Pro135del) n.670_681del c.297_308del (p.Lys100_Pro103del) c.-64_-53del (n.-64_-53del) c.381_392del (p.Lys128_Pro131del) | dbSNP gnomAD v2 |
| 17 | g.7675187_7675201del | CA645589138 | TP53 | c.411_425del (p.Ala138_Pro142del) c.15_29del (p.Ala6_Pro10del) c.132_146del (p.Ala45_Pro49del) c.390_404del (p.Ala131_Pro135del) n.667_681del c.294_308del (p.Ala99_Pro103del) c.-67_-53del (n.-67_-53del) c.378_392del (p.Ala127_Pro131del) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675188G>A | CA397842550 | TP53 | c.424C>T (p.Pro142Ser) c.28C>T (p.Pro10Ser) c.145C>T (p.Pro49Ser) c.403C>T (p.Pro135Ser) n.680C>T c.307C>T (p.Pro103Ser) c.-54C>T (n.-54C>T) c.391C>T (p.Pro131Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7675188G>C | CA397842552 | TP53 | c.424C>G (p.Pro142Ala) c.28C>G (p.Pro10Ala) c.145C>G (p.Pro49Ala) c.403C>G (p.Pro135Ala) n.680C>G c.307C>G (p.Pro103Ala) c.-54C>G (n.-54C>G) c.391C>G (p.Pro131Ala) | dbSNP COSMIC |