WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.7673529_7673541del | CA645587337 | TP53 | c.987_993+6del c.591_597+6del c.708_714+6del c.966_972+6del c.782+640_782+652del (n.782+640_782+652del) c.47_53+6del c.870_876+6del c.510_516+6del c.954_960+6del | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673532_7673541del | CA645587338 | TP53 | c.988_993+4del c.592_597+4del c.709_714+4del c.967_972+4del c.782+641_782+650del (n.782+641_782+650del) c.48_53+4del c.871_876+4del c.511_516+4del c.955_960+4del | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673533_7673541delinsTA | CA2580094895 | TP53 | c.987_993+2delinsTA c.591_597+2delinsTA c.708_714+2delinsTA c.966_972+2delinsTA c.782+640_782+648delinsTA (n.782+640_782+648delinsTA) c.47_53+2delinsTA c.870_876+2delinsTA c.510_516+2delinsTA c.954_960+2delinsTA | ClinVar |
| 17 | g.7673536_7673594dup | CA2499224956 | TP53 | c.934_992dup (p.Ile332ProfsTer33) c.538_596dup (p.Ile200ProfsTer33) c.655_713dup (p.Ile239ProfsTer33) c.913_971dup (p.Ile325ProfsTer33) c.934_992dup (p.Lys332ProfsTer40) c.782+587_782+645dup (n.782+587_782+645dup) c.934_992dup (p.Asp332ProfsTer39) c.934_992dup (p.Met332ProfsTer31) c.538_596dup (p.Met200ProfsTer31) c.538_596dup (p.Gln199=) c.538_596dup (p.Asp200ProfsTer39) c.817_875dup (p.Ile293ProfsTer33) c.817_875dup (p.Met293ProfsTer31) c.457_515dup (p.Met173ProfsTer31) c.901_959dup (p.Ile321ProfsTer33) c.457_515dup (p.Asp173ProfsTer39) c.457_515dup (p.Ile173ProfsTer33) c.817_875dup (p.Asp293ProfsTer39) | ClinVar dbSNP |
| 17 | g.7673542del | CA497713751 | TP53 | c.988del (p.Leu330PhefsTer15) c.592del (p.Leu198PhefsTer15) c.709del (p.Leu237PhefsTer15) c.967del (p.Leu323PhefsTer15) c.988del (p.Leu330PhefsTer22) c.782+641del (n.782+641del) c.988del (p.Leu330PhefsTer21) c.988del (p.Leu330PhefsTer13) c.592del (p.Leu198PhefsTer13) c.592del (p.Leu198PhefsTer?) c.592del (p.Leu198PhefsTer21) c.48del c.871del (p.Leu291PhefsTer15) c.871del (p.Leu291PhefsTer13) c.511del (p.Leu171PhefsTer13) c.955del (p.Leu319PhefsTer15) c.511del (p.Leu171PhefsTer21) c.511del (p.Leu171PhefsTer15) c.871del (p.Leu291PhefsTer21) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673541G>A | CA497713763 | TP53 | c.987C>T (p.Thr329=) c.591C>T (p.Thr197=) c.708C>T (p.Thr236=) c.966C>T (p.Thr322=) c.782+640C>T (n.782+640C>T) c.47C>T c.870C>T (p.Thr290=) c.510C>T (p.Thr170=) c.954C>T (p.Thr318=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.7673541G>C | CA497713766 | TP53 | c.987C>G (p.Thr329=) c.591C>G (p.Thr197=) c.708C>G (p.Thr236=) c.966C>G (p.Thr322=) c.782+640C>G (n.782+640C>G) c.47C>G c.870C>G (p.Thr290=) c.510C>G (p.Thr170=) c.954C>G (p.Thr318=) | dbSNP |
| 17 | g.7673541G>T | CA497713769 | TP53 | c.987C>A (p.Thr329=) c.591C>A (p.Thr197=) c.708C>A (p.Thr236=) c.966C>A (p.Thr322=) c.782+640C>A (n.782+640C>A) c.47C>A c.870C>A (p.Thr290=) c.510C>A (p.Thr170=) c.954C>A (p.Thr318=) | ClinVar dbSNP COSMIC |
| 17 | g.7673541_7673542delinsAA | CA645587346 | TP53 | c.986_987delinsTT (p.Thr329Ile) c.590_591delinsTT (p.Thr197Ile) c.707_708delinsTT (p.Thr236Ile) c.965_966delinsTT (p.Thr322Ile) c.782+639_782+640delinsTT (n.782+639_782+640delinsTT) c.46_47delinsTT c.869_870delinsTT (p.Thr290Ile) c.509_510delinsTT (p.Thr170Ile) c.953_954delinsTT (p.Thr318Ile) | COSMIC COSMIC |
| 17 | g.7673541_7673560delinsGGTGAAATATTCTCCATCCA | CA2245947495 | TP53 | c.968_987delinsTGGATGGAGAATATTTCACC (p.Leu323=) c.572_591delinsTGGATGGAGAATATTTCACC (p.Leu191=) c.689_708delinsTGGATGGAGAATATTTCACC (p.Leu230=) c.947_966delinsTGGATGGAGAATATTTCACC (p.Leu316=) c.782+621_782+640delinsTGGATGGAGAATATTTCACC (n.782+621_782+640delinsTGGATGGAGAATATTTCACC) c.28_47delinsTGGATGGAGAATATTTCACC c.851_870delinsTGGATGGAGAATATTTCACC (p.Leu284=) c.491_510delinsTGGATGGAGAATATTTCACC (p.Leu164=) c.935_954delinsTGGATGGAGAATATTTCACC (p.Leu312=) | |
| 17 | g.7673542G>A | CA287486504 | TP53 | c.986C>T (p.Thr329Ile) c.590C>T (p.Thr197Ile) c.707C>T (p.Thr236Ile) c.965C>T (p.Thr322Ile) c.782+639C>T (n.782+639C>T) c.46C>T c.869C>T (p.Thr290Ile) c.509C>T (p.Thr170Ile) c.953C>T (p.Thr318Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.7673542G>C | CA397835725 | TP53 | c.986C>G (p.Thr329Ser) c.590C>G (p.Thr197Ser) c.707C>G (p.Thr236Ser) c.965C>G (p.Thr322Ser) c.782+639C>G (n.782+639C>G) c.46C>G c.869C>G (p.Thr290Ser) c.509C>G (p.Thr170Ser) c.953C>G (p.Thr318Ser) | dbSNP |
| 17 | g.7673542G= | CA2245947503 | TP53 | c.986C= (p.Thr329=) c.590C= (p.Thr197=) c.707C= (p.Thr236=) c.965C= (p.Thr322=) c.782+639C= (n.782+639C=) c.46C= c.869C= (p.Thr290=) c.509C= (p.Thr170=) c.953C= (p.Thr318=) | |
| 17 | g.7673542G>T | CA397835730 | TP53 | c.986C>A (p.Thr329Asn) c.590C>A (p.Thr197Asn) c.707C>A (p.Thr236Asn) c.965C>A (p.Thr322Asn) c.782+639C>A (n.782+639C>A) c.46C>A c.869C>A (p.Thr290Asn) c.509C>A (p.Thr170Asn) c.953C>A (p.Thr318Asn) | dbSNP |
| 17 | g.7673545_7673563del | CA913188778 | TP53 | c.968_986del (p.Leu323ProfsTer16) c.572_590del (p.Leu191ProfsTer16) c.689_707del (p.Leu230ProfsTer16) c.947_965del (p.Leu316ProfsTer16) c.968_986del (p.Leu323ProfsTer23) c.782+621_782+639del (n.782+621_782+639del) c.968_986del (p.Leu323ProfsTer22) c.968_986del (p.Leu323ProfsTer14) c.572_590del (p.Leu191ProfsTer14) c.572_590del (p.Leu191ProfsTer?) c.572_590del (p.Leu191ProfsTer22) c.28_46del c.851_869del (p.Leu284ProfsTer16) c.851_869del (p.Leu284ProfsTer14) c.491_509del (p.Leu164ProfsTer14) c.935_953del (p.Leu312ProfsTer16) c.491_509del (p.Leu164ProfsTer22) c.491_509del (p.Leu164ProfsTer16) c.851_869del (p.Leu284ProfsTer22) | ClinVar dbSNP |
| 17 | g.7673543T>A | CA397835737 | TP53 | c.985A>T (p.Thr329Ser) c.589A>T (p.Thr197Ser) c.706A>T (p.Thr236Ser) c.964A>T (p.Thr322Ser) c.782+638A>T (n.782+638A>T) c.45A>T c.868A>T (p.Thr290Ser) c.508A>T (p.Thr170Ser) c.952A>T (p.Thr318Ser) | dbSNP |
| 17 | g.7673543T>C | CA397835735 | TP53 | c.985A>G (p.Thr329Ala) c.589A>G (p.Thr197Ala) c.706A>G (p.Thr236Ala) c.964A>G (p.Thr322Ala) c.782+638A>G (n.782+638A>G) c.45A>G c.868A>G (p.Thr290Ala) c.508A>G (p.Thr170Ala) c.952A>G (p.Thr318Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673543T>G | CA397835733 | TP53 | c.985A>C (p.Thr329Pro) c.589A>C (p.Thr197Pro) c.706A>C (p.Thr236Pro) c.964A>C (p.Thr322Pro) c.782+638A>C (n.782+638A>C) c.45A>C c.868A>C (p.Thr290Pro) c.508A>C (p.Thr170Pro) c.952A>C (p.Thr318Pro) | dbSNP |
| 17 | g.7673543T= | CA2245947510 | TP53 | c.985A= (p.Thr329=) c.589A= (p.Thr197=) c.706A= (p.Thr236=) c.964A= (p.Thr322=) c.782+638A= (n.782+638A=) c.45A= c.868A= (p.Thr290=) c.508A= (p.Thr170=) c.952A= (p.Thr318=) | |
| 17 | g.7673544G>A | CA16608656 | TP53 | c.984C>T (p.Phe328=) c.588C>T (p.Phe196=) c.705C>T (p.Phe235=) c.963C>T (p.Phe321=) c.782+637C>T (n.782+637C>T) c.44C>T c.867C>T (p.Phe289=) c.507C>T (p.Phe169=) c.951C>T (p.Phe317=) | ClinVar dbSNP COSMIC |
| 17 | g.7673544G>C | CA397835743 | TP53 | c.984C>G (p.Phe328Leu) c.588C>G (p.Phe196Leu) c.705C>G (p.Phe235Leu) c.963C>G (p.Phe321Leu) c.782+637C>G (n.782+637C>G) c.44C>G c.867C>G (p.Phe289Leu) c.507C>G (p.Phe169Leu) c.951C>G (p.Phe317Leu) | dbSNP |
| 17 | g.7673544G= | CA2245947520 | TP53 | c.984C= (p.Phe328=) c.588C= (p.Phe196=) c.705C= (p.Phe235=) c.963C= (p.Phe321=) c.782+637C= (n.782+637C=) c.44C= c.867C= (p.Phe289=) c.507C= (p.Phe169=) c.951C= (p.Phe317=) | |
| 17 | g.7673544G>T | CA397835745 | TP53 | c.984C>A (p.Phe328Leu) c.588C>A (p.Phe196Leu) c.705C>A (p.Phe235Leu) c.963C>A (p.Phe321Leu) c.782+637C>A (n.782+637C>A) c.44C>A c.867C>A (p.Phe289Leu) c.507C>A (p.Phe169Leu) c.951C>A (p.Phe317Leu) | dbSNP |
| 17 | g.7673544_7673545insT | CA645587347 | TP53 | c.983_984insA (p.Phe328LeufsTer9) c.587_588insA (p.Phe196LeufsTer9) c.704_705insA (p.Phe235LeufsTer9) c.962_963insA (p.Phe321LeufsTer9) c.983_984insA (p.Phe328LeufsTer?) c.782+636_782+637insA (n.782+636_782+637insA) c.983_984insA (p.Phe328LeufsTer19) c.983_984insA (p.Phe328LeufsTer8) c.587_588insA (p.Phe196LeufsTer8) c.587_588insA (p.Phe196LeufsTer?) c.587_588insA (p.Phe196LeufsTer19) c.43_44insA c.866_867insA (p.Phe289LeufsTer9) c.866_867insA (p.Phe289LeufsTer8) c.506_507insA (p.Phe169LeufsTer8) c.950_951insA (p.Phe317LeufsTer9) c.506_507insA (p.Phe169LeufsTer19) c.506_507insA (p.Phe169LeufsTer9) c.866_867insA (p.Phe289LeufsTer19) | COSMIC |
| 17 | g.7673545A= | CA2245947539 | TP53 | c.983T= (p.Phe328=) c.587T= (p.Phe196=) c.704T= (p.Phe235=) c.962T= (p.Phe321=) c.782+636T= (n.782+636T=) c.43T= c.866T= (p.Phe289=) c.506T= (p.Phe169=) c.950T= (p.Phe317=) | |
| 17 | g.7673545A>C | CA397835749 | TP53 | c.983T>G (p.Phe328Cys) c.587T>G (p.Phe196Cys) c.704T>G (p.Phe235Cys) c.962T>G (p.Phe321Cys) c.782+636T>G (n.782+636T>G) c.43T>G c.866T>G (p.Phe289Cys) c.506T>G (p.Phe169Cys) c.950T>G (p.Phe317Cys) | |
| 17 | g.7673545A>G | CA397835751 | TP53 | c.983T>C (p.Phe328Ser) c.587T>C (p.Phe196Ser) c.704T>C (p.Phe235Ser) c.962T>C (p.Phe321Ser) c.782+636T>C (n.782+636T>C) c.43T>C c.866T>C (p.Phe289Ser) c.506T>C (p.Phe169Ser) c.950T>C (p.Phe317Ser) | ClinVar dbSNP COSMIC |
| 17 | g.7673545A>T | CA397835754 | TP53 | c.983T>A (p.Phe328Tyr) c.587T>A (p.Phe196Tyr) c.704T>A (p.Phe235Tyr) c.962T>A (p.Phe321Tyr) c.782+636T>A (n.782+636T>A) c.43T>A c.866T>A (p.Phe289Tyr) c.506T>A (p.Phe169Tyr) c.950T>A (p.Phe317Tyr) | dbSNP |
| 17 | g.7673547dup | CA10603410 | TP53 | c.983dup (p.Thr329HisfsTer8) c.587dup (p.Thr197HisfsTer8) c.704dup (p.Thr236HisfsTer8) c.962dup (p.Thr322HisfsTer8) c.983dup (p.Thr329HisfsTer?) c.782+636dup (n.782+636dup) c.983dup (p.Thr329HisfsTer18) c.983dup (p.Thr329HisfsTer7) c.587dup (p.Thr197HisfsTer7) c.587dup (p.Thr197HisfsTer?) c.587dup (p.Thr197HisfsTer18) c.43dup c.866dup (p.Thr290HisfsTer8) c.866dup (p.Thr290HisfsTer7) c.506dup (p.Thr170HisfsTer7) c.950dup (p.Thr318HisfsTer8) c.506dup (p.Thr170HisfsTer18) c.506dup (p.Thr170HisfsTer8) c.866dup (p.Thr290HisfsTer18) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673546_7673547dup | CA2573154629 | TP53 | c.982_983dup (p.Thr329SerfsTer17) c.586_587dup (p.Thr197SerfsTer17) c.703_704dup (p.Thr236SerfsTer17) c.961_962dup (p.Thr322SerfsTer17) c.982_983dup (p.Thr329SerfsTer24) c.782+635_782+636dup (n.782+635_782+636dup) c.982_983dup (p.Thr329SerfsTer23) c.982_983dup (p.Thr329SerfsTer15) c.586_587dup (p.Thr197SerfsTer15) c.586_587dup (p.Thr197SerfsTer?) c.586_587dup (p.Thr197SerfsTer23) c.42_43dup c.865_866dup (p.Thr290SerfsTer17) c.865_866dup (p.Thr290SerfsTer15) c.505_506dup (p.Thr170SerfsTer15) c.949_950dup (p.Thr318SerfsTer17) c.505_506dup (p.Thr170SerfsTer23) c.505_506dup (p.Thr170SerfsTer17) c.865_866dup (p.Thr290SerfsTer23) | ClinVar dbSNP |
| 17 | g.7673547del | CA497713799 | TP53 | c.983del (p.Phe328SerfsTer17) c.587del (p.Phe196SerfsTer17) c.704del (p.Phe235SerfsTer17) c.962del (p.Phe321SerfsTer17) c.983del (p.Phe328SerfsTer24) c.782+636del (n.782+636del) c.983del (p.Phe328SerfsTer23) c.983del (p.Phe328SerfsTer15) c.587del (p.Phe196SerfsTer15) c.587del (p.Phe196SerfsTer?) c.587del (p.Phe196SerfsTer23) c.43del c.866del (p.Phe289SerfsTer17) c.866del (p.Phe289SerfsTer15) c.506del (p.Phe169SerfsTer15) c.950del (p.Phe317SerfsTer17) c.506del (p.Phe169SerfsTer23) c.506del (p.Phe169SerfsTer17) c.866del (p.Phe289SerfsTer23) | COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673545_7673546insT | CA497713806 | TP53 | c.982_983insA (p.Phe328TyrfsTer9) c.586_587insA (p.Phe196TyrfsTer9) c.703_704insA (p.Phe235TyrfsTer9) c.961_962insA (p.Phe321TyrfsTer9) c.982_983insA (p.Phe328TyrfsTer?) c.782+635_782+636insA (n.782+635_782+636insA) c.982_983insA (p.Phe328TyrfsTer19) c.982_983insA (p.Phe328TyrfsTer8) c.586_587insA (p.Phe196TyrfsTer8) c.586_587insA (p.Phe196TyrfsTer?) c.586_587insA (p.Phe196TyrfsTer19) c.42_43insA c.865_866insA (p.Phe289TyrfsTer9) c.865_866insA (p.Phe289TyrfsTer8) c.505_506insA (p.Phe169TyrfsTer8) c.949_950insA (p.Phe317TyrfsTer9) c.505_506insA (p.Phe169TyrfsTer19) c.505_506insA (p.Phe169TyrfsTer9) c.865_866insA (p.Phe289TyrfsTer19) | |
| 17 | g.7673546A>C | CA397835758 | TP53 | c.982T>G (p.Phe328Val) c.586T>G (p.Phe196Val) c.703T>G (p.Phe235Val) c.961T>G (p.Phe321Val) c.782+635T>G (n.782+635T>G) c.42T>G c.865T>G (p.Phe289Val) c.505T>G (p.Phe169Val) c.949T>G (p.Phe317Val) | COSMIC |
| 17 | g.7673546A>G | CA397835759 | TP53 | c.982T>C (p.Phe328Leu) c.586T>C (p.Phe196Leu) c.703T>C (p.Phe235Leu) c.961T>C (p.Phe321Leu) c.782+635T>C (n.782+635T>C) c.42T>C c.865T>C (p.Phe289Leu) c.505T>C (p.Phe169Leu) c.949T>C (p.Phe317Leu) | |
| 17 | g.7673546A>T | CA397835761 | TP53 | c.982T>A (p.Phe328Ile) c.586T>A (p.Phe196Ile) c.703T>A (p.Phe235Ile) c.961T>A (p.Phe321Ile) c.782+635T>A (n.782+635T>A) c.42T>A c.865T>A (p.Phe289Ile) c.505T>A (p.Phe169Ile) c.949T>A (p.Phe317Ile) | dbSNP |
| 17 | g.7673546_7673548delinsAAT | CA2245947548 | TP53 | c.980_982delinsATT (p.Tyr327=) c.584_586delinsATT (p.Tyr195=) c.701_703delinsATT (p.Tyr234=) c.959_961delinsATT (p.Tyr320=) c.782+633_782+635delinsATT (n.782+633_782+635delinsATT) c.40_42delinsATT c.863_865delinsATT (p.Tyr288=) c.503_505delinsATT (p.Tyr168=) c.947_949delinsATT (p.Tyr316=) | |
| 17 | g.7673547A= | CA2245947559 | TP53 | c.981T= (p.Tyr327=) c.585T= (p.Tyr195=) c.702T= (p.Tyr234=) c.960T= (p.Tyr320=) c.782+634T= (n.782+634T=) c.41T= c.864T= (p.Tyr288=) c.504T= (p.Tyr168=) c.948T= (p.Tyr316=) | |
| 17 | g.7673547A>C | CA10584585 | TP53 | c.981T>G (p.Tyr327Ter) c.585T>G (p.Tyr195Ter) c.702T>G (p.Tyr234Ter) c.960T>G (p.Tyr320Ter) c.782+634T>G (n.782+634T>G) c.41T>G c.864T>G (p.Tyr288Ter) c.504T>G (p.Tyr168Ter) c.948T>G (p.Tyr316Ter) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.7673547A>G | CA497713821 | TP53 | c.981T>C (p.Tyr327=) c.585T>C (p.Tyr195=) c.702T>C (p.Tyr234=) c.960T>C (p.Tyr320=) c.782+634T>C (n.782+634T>C) c.41T>C c.864T>C (p.Tyr288=) c.504T>C (p.Tyr168=) c.948T>C (p.Tyr316=) | dbSNP |
| 17 | g.7673547A>T | CA397835766 | TP53 | c.981T>A (p.Tyr327Ter) c.585T>A (p.Tyr195Ter) c.702T>A (p.Tyr234Ter) c.960T>A (p.Tyr320Ter) c.782+634T>A (n.782+634T>A) c.41T>A c.864T>A (p.Tyr288Ter) c.504T>A (p.Tyr168Ter) c.948T>A (p.Tyr316Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673549_7673550del | CA645587348 | TP53 | c.980_981del (p.Tyr327PhefsTer9) c.584_585del (p.Tyr195PhefsTer9) c.701_702del (p.Tyr234PhefsTer9) c.959_960del (p.Tyr320PhefsTer9) c.980_981del (p.Tyr327PhefsTer?) c.782+633_782+634del (n.782+633_782+634del) c.980_981del (p.Tyr327PhefsTer19) c.980_981del (p.Tyr327PhefsTer8) c.584_585del (p.Tyr195PhefsTer8) c.584_585del (p.Tyr195PhefsTer?) c.584_585del (p.Tyr195PhefsTer19) c.40_41del c.863_864del (p.Tyr288PhefsTer9) c.863_864del (p.Tyr288PhefsTer8) c.503_504del (p.Tyr168PhefsTer8) c.947_948del (p.Tyr316PhefsTer9) c.503_504del (p.Tyr168PhefsTer19) c.503_504del (p.Tyr168PhefsTer9) c.863_864del (p.Tyr288PhefsTer19) | ClinVar dbSNP COSMIC |
| 17 | g.7673548T>A | CA397835768 | TP53 | c.980A>T (p.Tyr327Phe) c.584A>T (p.Tyr195Phe) c.701A>T (p.Tyr234Phe) c.959A>T (p.Tyr320Phe) c.782+633A>T (n.782+633A>T) c.40A>T c.863A>T (p.Tyr288Phe) c.503A>T (p.Tyr168Phe) c.947A>T (p.Tyr316Phe) | dbSNP |
| 17 | g.7673548T>C | CA397835771 | TP53 | c.980A>G (p.Tyr327Cys) c.584A>G (p.Tyr195Cys) c.701A>G (p.Tyr234Cys) c.959A>G (p.Tyr320Cys) c.782+633A>G (n.782+633A>G) c.40A>G c.863A>G (p.Tyr288Cys) c.503A>G (p.Tyr168Cys) c.947A>G (p.Tyr316Cys) | ClinVar dbSNP |
| 17 | g.7673548T>G | CA397835778 | TP53 | c.980A>C (p.Tyr327Ser) c.584A>C (p.Tyr195Ser) c.701A>C (p.Tyr234Ser) c.959A>C (p.Tyr320Ser) c.782+633A>C (n.782+633A>C) c.40A>C c.863A>C (p.Tyr288Ser) c.503A>C (p.Tyr168Ser) c.947A>C (p.Tyr316Ser) | dbSNP |
| 17 | g.7673548_7673549insTT | CA645587349 | TP53 | c.980_981insAA (p.Tyr327Ter) c.584_585insAA (p.Tyr195Ter) c.701_702insAA (p.Tyr234Ter) c.959_960insAA (p.Tyr320Ter) c.782+633_782+634insAA (n.782+633_782+634insAA) c.40_41insAA c.863_864insAA (p.Tyr288Ter) c.503_504insAA (p.Tyr168Ter) c.947_948insAA (p.Tyr316Ter) | COSMIC |
| 17 | g.7673549A>C | CA397835781 | TP53 | c.979T>G (p.Tyr327Asp) c.583T>G (p.Tyr195Asp) c.700T>G (p.Tyr234Asp) c.958T>G (p.Tyr320Asp) c.782+632T>G (n.782+632T>G) c.39T>G c.862T>G (p.Tyr288Asp) c.502T>G (p.Tyr168Asp) c.946T>G (p.Tyr316Asp) | dbSNP COSMIC |
| 17 | g.7673549A>G | CA397835786 | TP53 | c.979T>C (p.Tyr327His) c.583T>C (p.Tyr195His) c.700T>C (p.Tyr234His) c.958T>C (p.Tyr320His) c.782+632T>C (n.782+632T>C) c.39T>C c.862T>C (p.Tyr288His) c.502T>C (p.Tyr168His) c.946T>C (p.Tyr316His) | |
| 17 | g.7673549A>T | CA397835783 | TP53 | c.979T>A (p.Tyr327Asn) c.583T>A (p.Tyr195Asn) c.700T>A (p.Tyr234Asn) c.958T>A (p.Tyr320Asn) c.782+632T>A (n.782+632T>A) c.39T>A c.862T>A (p.Tyr288Asn) c.502T>A (p.Tyr168Asn) c.946T>A (p.Tyr316Asn) | dbSNP |