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.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.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.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.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.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 |
| 17 | g.7673550T>A | CA287486513 | TP53 | c.978A>T (p.Glu326Asp) c.582A>T (p.Glu194Asp) c.699A>T (p.Glu233Asp) c.957A>T (p.Glu319Asp) c.782+631A>T (n.782+631A>T) c.38A>T c.861A>T (p.Glu287Asp) c.501A>T (p.Glu167Asp) c.945A>T (p.Glu315Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7673550T>C | CA497713840 | TP53 | c.978A>G (p.Glu326=) c.582A>G (p.Glu194=) c.699A>G (p.Glu233=) c.957A>G (p.Glu319=) c.782+631A>G (n.782+631A>G) c.38A>G c.861A>G (p.Glu287=) c.501A>G (p.Glu167=) c.945A>G (p.Glu315=) | ClinVar dbSNP |
| 17 | g.7673550T>G | CA397835791 | TP53 | c.978A>C (p.Glu326Asp) c.582A>C (p.Glu194Asp) c.699A>C (p.Glu233Asp) c.957A>C (p.Glu319Asp) c.782+631A>C (n.782+631A>C) c.38A>C c.861A>C (p.Glu287Asp) c.501A>C (p.Glu167Asp) c.945A>C (p.Glu315Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7673550T= | CA2245947569 | TP53 | c.978A= (p.Glu326=) c.582A= (p.Glu194=) c.699A= (p.Glu233=) c.957A= (p.Glu319=) c.782+631A= (n.782+631A=) c.38A= c.861A= (p.Glu287=) c.501A= (p.Glu167=) c.945A= (p.Glu315=) | |
| 17 | g.7673551_7673553del | CA2635874179 | TP53 | c.976_978del (p.Glu326del) c.580_582del (p.Glu194del) c.697_699del (p.Glu233del) c.955_957del (p.Glu319del) c.782+629_782+631del (n.782+629_782+631del) c.36_38del c.859_861del (p.Glu287del) c.499_501del (p.Glu167del) c.943_945del (p.Glu315del) | gnomAD v4 |
| 17 | g.7673551T>A | CA397835794 | TP53 | c.977A>T (p.Glu326Val) c.581A>T (p.Glu194Val) c.698A>T (p.Glu233Val) c.956A>T (p.Glu319Val) c.782+630A>T (n.782+630A>T) c.37A>T c.860A>T (p.Glu287Val) c.500A>T (p.Glu167Val) c.944A>T (p.Glu315Val) | ClinVar dbSNP |
| 17 | g.7673551T>C | CA397835798 | TP53 | c.977A>G (p.Glu326Gly) c.581A>G (p.Glu194Gly) c.698A>G (p.Glu233Gly) c.956A>G (p.Glu319Gly) c.782+630A>G (n.782+630A>G) c.37A>G c.860A>G (p.Glu287Gly) c.500A>G (p.Glu167Gly) c.944A>G (p.Glu315Gly) | dbSNP |
| 17 | g.7673551T>G | CA397835801 | TP53 | c.977A>C (p.Glu326Ala) c.581A>C (p.Glu194Ala) c.698A>C (p.Glu233Ala) c.956A>C (p.Glu319Ala) c.782+630A>C (n.782+630A>C) c.37A>C c.860A>C (p.Glu287Ala) c.500A>C (p.Glu167Ala) c.944A>C (p.Glu315Ala) | dbSNP |
| 17 | g.7673553_7673554dup | CA915949514 | TP53 | c.976_977dup (p.Tyr327AsnfsTer19) c.580_581dup (p.Tyr195AsnfsTer19) c.697_698dup (p.Tyr234AsnfsTer19) c.955_956dup (p.Tyr320AsnfsTer19) c.976_977dup (p.Tyr327AsnfsTer26) c.782+629_782+630dup (n.782+629_782+630dup) c.976_977dup (p.Tyr327AsnfsTer25) c.976_977dup (p.Tyr327AsnfsTer17) c.580_581dup (p.Tyr195AsnfsTer17) c.580_581dup (p.Tyr195AsnfsTer?) c.580_581dup (p.Tyr195AsnfsTer25) c.36_37dup c.859_860dup (p.Tyr288AsnfsTer19) c.859_860dup (p.Tyr288AsnfsTer17) c.499_500dup (p.Tyr168AsnfsTer17) c.943_944dup (p.Tyr316AsnfsTer19) c.499_500dup (p.Tyr168AsnfsTer25) c.499_500dup (p.Tyr168AsnfsTer19) c.859_860dup (p.Tyr288AsnfsTer25) | ClinVar dbSNP |
| 17 | g.7673552C>A | CA10580908 | TP53 | c.976G>T (p.Glu326Ter) c.580G>T (p.Glu194Ter) c.697G>T (p.Glu233Ter) c.955G>T (p.Glu319Ter) c.782+629G>T (n.782+629G>T) c.36G>T c.859G>T (p.Glu287Ter) c.499G>T (p.Glu167Ter) c.943G>T (p.Glu315Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673552C= | CA2245947579 | TP53 | c.976G= (p.Glu326=) c.580G= (p.Glu194=) c.697G= (p.Glu233=) c.955G= (p.Glu319=) c.782+629G= (n.782+629G=) c.36G= c.859G= (p.Glu287=) c.499G= (p.Glu167=) c.943G= (p.Glu315=) | |
| 17 | g.7673552C>G | CA397835806 | TP53 | c.976G>C (p.Glu326Gln) c.580G>C (p.Glu194Gln) c.697G>C (p.Glu233Gln) c.955G>C (p.Glu319Gln) c.782+629G>C (n.782+629G>C) c.36G>C c.859G>C (p.Glu287Gln) c.499G>C (p.Glu167Gln) c.943G>C (p.Glu315Gln) | dbSNP |
| 17 | g.7673552C>T | CA397835809 | TP53 | c.976G>A (p.Glu326Lys) c.580G>A (p.Glu194Lys) c.697G>A (p.Glu233Lys) c.955G>A (p.Glu319Lys) c.782+629G>A (n.782+629G>A) c.36G>A c.859G>A (p.Glu287Lys) c.499G>A (p.Glu167Lys) c.943G>A (p.Glu315Lys) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673553T>A | CA497713884 | TP53 | c.975A>T (p.Gly325=) c.579A>T (p.Gly193=) c.696A>T (p.Gly232=) c.954A>T (p.Gly318=) c.782+628A>T (n.782+628A>T) c.35A>T c.858A>T (p.Gly286=) c.498A>T (p.Gly166=) c.942A>T (p.Gly314=) | |
| 17 | g.7673553T>C | CA497713893 | TP53 | c.975A>G (p.Gly325=) c.579A>G (p.Gly193=) c.696A>G (p.Gly232=) c.954A>G (p.Gly318=) c.782+628A>G (n.782+628A>G) c.35A>G c.858A>G (p.Gly286=) c.498A>G (p.Gly166=) c.942A>G (p.Gly314=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7673553T>G | CA497713894 | TP53 | c.975A>C (p.Gly325=) c.579A>C (p.Gly193=) c.696A>C (p.Gly232=) c.954A>C (p.Gly318=) c.782+628A>C (n.782+628A>C) c.35A>C c.858A>C (p.Gly286=) c.498A>C (p.Gly166=) c.942A>C (p.Gly314=) | |
| 17 | g.7673553T= | CA2245947582 | TP53 | c.975A= (p.Gly325=) c.579A= (p.Gly193=) c.696A= (p.Gly232=) c.954A= (p.Gly318=) c.782+628A= (n.782+628A=) c.35A= c.858A= (p.Gly286=) c.498A= (p.Gly166=) c.942A= (p.Gly314=) | |
| 17 | g.7673554C>A | CA000516 | TP53 | c.974G>T (p.Gly325Val) c.578G>T (p.Gly193Val) c.695G>T (p.Gly232Val) c.953G>T (p.Gly318Val) c.782+627G>T (n.782+627G>T) c.34G>T c.857G>T (p.Gly286Val) c.497G>T (p.Gly166Val) c.941G>T (p.Gly314Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.7673554C= | CA2245947593 | TP53 | c.974G= (p.Gly325=) c.578G= (p.Gly193=) c.695G= (p.Gly232=) c.953G= (p.Gly318=) c.782+627G= (n.782+627G=) c.34G= c.857G= (p.Gly286=) c.497G= (p.Gly166=) c.941G= (p.Gly314=) | |
| 17 | g.7673554C>G | CA397835813 | TP53 | c.974G>C (p.Gly325Ala) c.578G>C (p.Gly193Ala) c.695G>C (p.Gly232Ala) c.953G>C (p.Gly318Ala) c.782+627G>C (n.782+627G>C) c.34G>C c.857G>C (p.Gly286Ala) c.497G>C (p.Gly166Ala) c.941G>C (p.Gly314Ala) | dbSNP COSMIC |
| 17 | g.7673554C>T | CA397835817 | TP53 | c.974G>A (p.Gly325Glu) c.578G>A (p.Gly193Glu) c.695G>A (p.Gly232Glu) c.953G>A (p.Gly318Glu) c.782+627G>A (n.782+627G>A) c.34G>A c.857G>A (p.Gly286Glu) c.497G>A (p.Gly166Glu) c.941G>A (p.Gly314Glu) | ClinVar dbSNP COSMIC |
| 17 | g.7673555C>A | CA335679 | TP53 | c.973G>T (p.Gly325Ter) c.577G>T (p.Gly193Ter) c.694G>T (p.Gly232Ter) c.952G>T (p.Gly318Ter) c.782+626G>T (n.782+626G>T) c.33G>T c.856G>T (p.Gly286Ter) c.496G>T (p.Gly166Ter) c.940G>T (p.Gly314Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673555C= | CA2245947602 | TP53 | c.973G= (p.Gly325=) c.577G= (p.Gly193=) c.694G= (p.Gly232=) c.952G= (p.Gly318=) c.782+626G= (n.782+626G=) c.33G= c.856G= (p.Gly286=) c.496G= (p.Gly166=) c.940G= (p.Gly314=) | |
| 17 | g.7673555C>G | CA397835825 | TP53 | c.973G>C (p.Gly325Arg) c.577G>C (p.Gly193Arg) c.694G>C (p.Gly232Arg) c.952G>C (p.Gly318Arg) c.782+626G>C (n.782+626G>C) c.33G>C c.856G>C (p.Gly286Arg) c.496G>C (p.Gly166Arg) c.940G>C (p.Gly314Arg) | dbSNP |
| 17 | g.7673555C>T | CA397835820 | TP53 | c.973G>A (p.Gly325Arg) c.577G>A (p.Gly193Arg) c.694G>A (p.Gly232Arg) c.952G>A (p.Gly318Arg) c.782+626G>A (n.782+626G>A) c.33G>A c.856G>A (p.Gly286Arg) c.496G>A (p.Gly166Arg) c.940G>A (p.Gly314Arg) | ClinVar dbSNP |
| 17 | g.7673556A>C | CA397835833 | TP53 | c.972T>G (p.Asp324Glu) c.576T>G (p.Asp192Glu) c.693T>G (p.Asp231Glu) c.951T>G (p.Asp317Glu) c.782+625T>G (n.782+625T>G) c.32T>G c.855T>G (p.Asp285Glu) c.495T>G (p.Asp165Glu) c.939T>G (p.Asp313Glu) | dbSNP COSMIC |
| 17 | g.7673556A>G | CA497713910 | TP53 | c.972T>C (p.Asp324=) c.576T>C (p.Asp192=) c.693T>C (p.Asp231=) c.951T>C (p.Asp317=) c.782+625T>C (n.782+625T>C) c.32T>C c.855T>C (p.Asp285=) c.495T>C (p.Asp165=) c.939T>C (p.Asp313=) | dbSNP COSMIC |
| 17 | g.7673556A>T | CA397835829 | TP53 | c.972T>A (p.Asp324Glu) c.576T>A (p.Asp192Glu) c.693T>A (p.Asp231Glu) c.951T>A (p.Asp317Glu) c.782+625T>A (n.782+625T>A) c.32T>A c.855T>A (p.Asp285Glu) c.495T>A (p.Asp165Glu) c.939T>A (p.Asp313Glu) | ClinVar dbSNP COSMIC |
| 17 | g.7673557del | CA497713915 | TP53 | c.971del (p.Asp324ValfsTer21) c.575del (p.Asp192ValfsTer21) c.692del (p.Asp231ValfsTer21) c.950del (p.Asp317ValfsTer21) c.971del (p.Asp324ValfsTer28) c.782+624del (n.782+624del) c.971del (p.Asp324ValfsTer27) c.971del (p.Asp324ValfsTer19) c.575del (p.Asp192ValfsTer19) c.575del (p.Asp192ValfsTer?) c.575del (p.Asp192ValfsTer27) c.31del c.854del (p.Asp285ValfsTer21) c.854del (p.Asp285ValfsTer19) c.494del (p.Asp165ValfsTer19) c.938del (p.Asp313ValfsTer21) c.494del (p.Asp165ValfsTer27) c.494del (p.Asp165ValfsTer21) c.854del (p.Asp285ValfsTer27) | COSMIC |