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.7669608_7669622delinsT | CA2695202450 | TP53 | c.1169_*1delinsA (n.[c.1169_*1delinsA;Pro390GlnfsTer?]) c.773_*1delinsA (n.[c.773_*1delinsA;Pro258GlnfsTer?]) c.890_*1delinsA (n.[c.890_*1delinsA;Pro297GlnfsTer?]) c.1148_*1delinsA (n.[c.1148_*1delinsA;Pro383GlnfsTer?]) c.994-3378_994-3364delinsA (n.994-3378_994-3364delinsA) c.782+4559_782+4573delinsA (n.782+4559_782+4573delinsA) c.*276_*290delinsA (n.*276_*290delinsA) c.*188_*202delinsA (n.*188_*202delinsA) c.122_136delinsA c.1052_*1delinsA (n.[c.1052_*1delinsA;Pro351GlnfsTer?]) c.692_*1delinsA (n.[c.692_*1delinsA;Pro231GlnfsTer?]) c.983+987_983+1001delinsA (n.983+987_983+1001delinsA) | |
| 17 | g.7669609_7669690del | CA2581463482 | TP53 | c.1102_*1del (n.[c.1102_*1del;His368IlefsTer27]) c.706_*1del (n.[c.706_*1del;His236IlefsTer27]) c.823_*1del (n.[c.823_*1del;His275IlefsTer27]) c.1081_*1del (n.[c.1081_*1del;His361IlefsTer27]) c.994-3445_994-3364del (n.994-3445_994-3364del) c.782+4492_782+4573del (n.782+4492_782+4573del) c.*209_*290del (n.*209_*290del) c.*121_*202del (n.*121_*202del) c.55_136del c.985_*1del (n.[c.985_*1del;His329IlefsTer27]) c.625_*1del (n.[c.625_*1del;His209IlefsTer27]) c.983+920_983+1001del (n.983+920_983+1001del) | |
| 17 | g.7669609T>A | CA397829908 | TP53 | c.1182A>T (p.Ter394Cys) c.786A>T (p.Ter262Cys) c.903A>T (p.Ter301Cys) c.1161A>T (p.Ter387Cys) c.994-3365A>T (n.994-3365A>T) c.782+4572A>T (n.782+4572A>T) c.*289A>T (n.*289A>T) c.*201A>T (n.*201A>T) c.135A>T c.1065A>T (p.Ter355Cys) c.1149A>T (p.Ter383Cys) c.705A>T (p.Ter235Cys) c.983+1000A>T (n.983+1000A>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7669609T>C | CA397829910 | TP53 | c.1182A>G (p.Ter394Trp) c.786A>G (p.Ter262Trp) c.903A>G (p.Ter301Trp) c.1161A>G (p.Ter387Trp) c.994-3365A>G (n.994-3365A>G) c.782+4572A>G (n.782+4572A>G) c.*289A>G (n.*289A>G) c.*201A>G (n.*201A>G) c.135A>G c.1065A>G (p.Ter355Trp) c.1149A>G (p.Ter383Trp) c.705A>G (p.Ter235Trp) c.983+1000A>G (n.983+1000A>G) | ClinVar |
| 17 | g.7669609T>G | CA397829913 | TP53 | c.1182A>C (p.Ter394Cys) c.786A>C (p.Ter262Cys) c.903A>C (p.Ter301Cys) c.1161A>C (p.Ter387Cys) c.994-3365A>C (n.994-3365A>C) c.782+4572A>C (n.782+4572A>C) c.*289A>C (n.*289A>C) c.*201A>C (n.*201A>C) c.135A>C c.1065A>C (p.Ter355Cys) c.1149A>C (p.Ter383Cys) c.705A>C (p.Ter235Cys) c.983+1000A>C (n.983+1000A>C) | dbSNP |
| 17 | g.7669609T= | CA2245940426 | TP53 | c.1182A= (p.Ter394=) c.786A= (p.Ter262=) c.903A= (p.Ter301=) c.1161A= (p.Ter387=) c.994-3365A= (n.994-3365A=) c.782+4572A= (n.782+4572A=) c.*289A= (n.*289A=) c.*201A= (n.*201A=) c.135A= c.1065A= (p.Ter355=) c.1149A= (p.Ter383=) c.705A= (p.Ter235=) c.983+1000A= (n.983+1000A=) | |
| 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.7669610C>A | CA397829921 | TP53 | c.1181G>T (p.Ter394Leu) c.785G>T (p.Ter262Leu) c.902G>T (p.Ter301Leu) c.1160G>T (p.Ter387Leu) c.994-3366G>T (n.994-3366G>T) c.782+4571G>T (n.782+4571G>T) c.*288G>T (n.*288G>T) c.*200G>T (n.*200G>T) c.134G>T c.1064G>T (p.Ter355Leu) c.1148G>T (p.Ter383Leu) c.704G>T (p.Ter235Leu) c.983+999G>T (n.983+999G>T) | dbSNP |
| 17 | g.7669610C>G | CA397829924 | TP53 | c.1181G>C (p.Ter394Ser) c.785G>C (p.Ter262Ser) c.902G>C (p.Ter301Ser) c.1160G>C (p.Ter387Ser) c.994-3366G>C (n.994-3366G>C) c.782+4571G>C (n.782+4571G>C) c.*288G>C (n.*288G>C) c.*200G>C (n.*200G>C) c.134G>C c.1064G>C (p.Ter355Ser) c.1148G>C (p.Ter383Ser) c.704G>C (p.Ter235Ser) c.983+999G>C (n.983+999G>C) | dbSNP |
| 17 | g.7669610C>T | CA497711106 | TP53 | c.1181G>A (p.Ter394=) c.785G>A (p.Ter262=) c.902G>A (p.Ter301=) c.1160G>A (p.Ter387=) c.994-3366G>A (n.994-3366G>A) c.782+4571G>A (n.782+4571G>A) c.*288G>A (n.*288G>A) c.*200G>A (n.*200G>A) c.134G>A c.1064G>A (p.Ter355=) c.1148G>A (p.Ter383=) c.704G>A (p.Ter235=) c.983+999G>A (n.983+999G>A) | dbSNP |
| 17 | g.7669611_7669681dup | CA2573154464 | TP53 | c.1111_1181dup (p.Ter394CysextTer52) c.715_785dup (p.Ter262CysextTer52) c.832_902dup (p.Ter301CysextTer52) c.1090_1160dup (p.Ter387CysextTer52) c.994-3436_994-3366dup (n.994-3436_994-3366dup) c.782+4501_782+4571dup (n.782+4501_782+4571dup) c.*218_*288dup (n.*218_*288dup) c.*130_*200dup (n.*130_*200dup) c.64_134dup c.994_1064dup (p.Ter355CysextTer52) c.1078_1148dup (p.Ter383CysextTer?) c.634_704dup (p.Ter235CysextTer52) c.983+929_983+999dup (n.983+929_983+999dup) | ClinVar dbSNP |
| 17 | g.7669611A= | CA2245940439 | TP53 | c.1180T= (p.Ter394=) c.784T= (p.Ter262=) c.901T= (p.Ter301=) c.1159T= (p.Ter387=) c.994-3367T= (n.994-3367T=) c.782+4570T= (n.782+4570T=) c.*287T= (n.*287T=) c.*199T= (n.*199T=) c.133T= c.1063T= (p.Ter355=) c.1147T= (p.Ter383=) c.703T= (p.Ter235=) c.983+998T= (n.983+998T=) | |
| 17 | g.7669611A>C | CA397829928 | TP53 | c.1180T>G (p.Ter394Gly) c.784T>G (p.Ter262Gly) c.901T>G (p.Ter301Gly) c.1159T>G (p.Ter387Gly) c.994-3367T>G (n.994-3367T>G) c.782+4570T>G (n.782+4570T>G) c.*287T>G (n.*287T>G) c.*199T>G (n.*199T>G) c.133T>G c.1063T>G (p.Ter355Gly) c.1147T>G (p.Ter383Gly) c.703T>G (p.Ter235Gly) c.983+998T>G (n.983+998T>G) | ClinVar dbSNP |
| 17 | g.7669611A>G | CA397829929 | TP53 | c.1180T>C (p.Ter394Arg) c.784T>C (p.Ter262Arg) c.901T>C (p.Ter301Arg) c.1159T>C (p.Ter387Arg) c.994-3367T>C (n.994-3367T>C) c.782+4570T>C (n.782+4570T>C) c.*287T>C (n.*287T>C) c.*199T>C (n.*199T>C) c.133T>C c.1063T>C (p.Ter355Arg) c.1147T>C (p.Ter383Arg) c.703T>C (p.Ter235Arg) c.983+998T>C (n.983+998T>C) | ClinVar dbSNP |
| 17 | g.7669611A>T | CA397829931 | TP53 | c.1180T>A (p.Ter394Arg) c.784T>A (p.Ter262Arg) c.901T>A (p.Ter301Arg) c.1159T>A (p.Ter387Arg) c.994-3367T>A (n.994-3367T>A) c.782+4570T>A (n.782+4570T>A) c.*287T>A (n.*287T>A) c.*199T>A (n.*199T>A) c.133T>A c.1063T>A (p.Ter355Arg) c.1147T>A (p.Ter383Arg) c.703T>A (p.Ter235Arg) c.983+998T>A (n.983+998T>A) | ClinVar dbSNP |
| 17 | g.7669612G>A | CA497711112 | TP53 | c.1179C>T (p.Asp393=) c.783C>T (p.Asp261=) c.900C>T (p.Asp300=) c.1158C>T (p.Asp386=) c.994-3368C>T (n.994-3368C>T) c.782+4569C>T (n.782+4569C>T) c.*286C>T (n.*286C>T) c.*198C>T (n.*198C>T) c.132C>T c.1062C>T (p.Asp354=) c.1146C>T (p.Asp382=) c.702C>T (p.Asp234=) c.983+997C>T (n.983+997C>T) | ClinVar dbSNP |
| 17 | g.7669612G>C | CA397829932 | TP53 | c.1179C>G (p.Asp393Glu) c.783C>G (p.Asp261Glu) c.900C>G (p.Asp300Glu) c.1158C>G (p.Asp386Glu) c.994-3368C>G (n.994-3368C>G) c.782+4569C>G (n.782+4569C>G) c.*286C>G (n.*286C>G) c.*198C>G (n.*198C>G) c.132C>G c.1062C>G (p.Asp354Glu) c.1146C>G (p.Asp382Glu) c.702C>G (p.Asp234Glu) c.983+997C>G (n.983+997C>G) | ClinVar dbSNP |
| 17 | g.7669612G= | CA2245940451 | TP53 | c.1179C= (p.Asp393=) c.783C= (p.Asp261=) c.900C= (p.Asp300=) c.1158C= (p.Asp386=) c.994-3368C= (n.994-3368C=) c.782+4569C= (n.782+4569C=) c.*286C= (n.*286C=) c.*198C= (n.*198C=) c.132C= c.1062C= (p.Asp354=) c.1146C= (p.Asp382=) c.702C= (p.Asp234=) c.983+997C= (n.983+997C=) | |
| 17 | g.7669612G>T | CA397829937 | TP53 | c.1179C>A (p.Asp393Glu) c.783C>A (p.Asp261Glu) c.900C>A (p.Asp300Glu) c.1158C>A (p.Asp386Glu) c.994-3368C>A (n.994-3368C>A) c.782+4569C>A (n.782+4569C>A) c.*286C>A (n.*286C>A) c.*198C>A (n.*198C>A) c.132C>A c.1062C>A (p.Asp354Glu) c.1146C>A (p.Asp382Glu) c.702C>A (p.Asp234Glu) c.983+997C>A (n.983+997C>A) | |
| 17 | g.7669612dup | CA645369640 | TP53 | c.1179dup (p.Ter394LeuextTer?) c.783dup (p.Ter262LeuextTer?) c.900dup (p.Ter301LeuextTer?) c.1158dup (p.Ter387LeuextTer?) c.994-3368dup (n.994-3368dup) c.782+4569dup (n.782+4569dup) c.*286dup (n.*286dup) c.*198dup (n.*198dup) c.132dup c.1062dup (p.Ter355LeuextTer?) c.1146dup (p.Ter383LeuextTer?) c.702dup (p.Ter235LeuextTer?) c.983+997dup (n.983+997dup) | ClinVar dbSNP |
| 17 | g.7669613_7669616del | CA645587284 | TP53 | c.1176_1179del (p.Ter394IleextTer27) c.780_783del (p.Ter262IleextTer27) c.897_900del (p.Ter301IleextTer27) c.1155_1158del (p.Ter387IleextTer27) c.994-3371_994-3368del (n.994-3371_994-3368del) c.782+4566_782+4569del (n.782+4566_782+4569del) c.*283_*286del (n.*283_*286del) c.*195_*198del (n.*195_*198del) c.129_132del c.1059_1062del (p.Ter355IleextTer27) c.1143_1146del (p.Ser381=) c.699_702del (p.Ter235IleextTer27) c.983+994_983+997del (n.983+994_983+997del) | COSMIC |
| 17 | g.7669613T>A | CA397829951 | TP53 | c.1178A>T (p.Asp393Val) c.782A>T (p.Asp261Val) c.899A>T (p.Asp300Val) c.1157A>T (p.Asp386Val) c.994-3369A>T (n.994-3369A>T) c.782+4568A>T (n.782+4568A>T) c.*285A>T (n.*285A>T) c.*197A>T (n.*197A>T) c.131A>T c.1061A>T (p.Asp354Val) c.1145A>T (p.Asp382Val) c.701A>T (p.Asp234Val) c.983+996A>T (n.983+996A>T) | dbSNP gnomAD v4 |
| 17 | g.7669613T>C | CA397829952 | TP53 | c.1178A>G (p.Asp393Gly) c.782A>G (p.Asp261Gly) c.899A>G (p.Asp300Gly) c.1157A>G (p.Asp386Gly) c.994-3369A>G (n.994-3369A>G) c.782+4568A>G (n.782+4568A>G) c.*285A>G (n.*285A>G) c.*197A>G (n.*197A>G) c.131A>G c.1061A>G (p.Asp354Gly) c.1145A>G (p.Asp382Gly) c.701A>G (p.Asp234Gly) c.983+996A>G (n.983+996A>G) | |
| 17 | g.7669613T>G | CA397829953 | TP53 | c.1178A>C (p.Asp393Ala) c.782A>C (p.Asp261Ala) c.899A>C (p.Asp300Ala) c.1157A>C (p.Asp386Ala) c.994-3369A>C (n.994-3369A>C) c.782+4568A>C (n.782+4568A>C) c.*285A>C (n.*285A>C) c.*197A>C (n.*197A>C) c.131A>C c.1061A>C (p.Asp354Ala) c.1145A>C (p.Asp382Ala) c.701A>C (p.Asp234Ala) c.983+996A>C (n.983+996A>C) | |
| 17 | g.7669613_7669614delinsTC | CA2245940455 | TP53 | c.1177_1178delinsGA (p.Asp393=) c.781_782delinsGA (p.Asp261=) c.898_899delinsGA (p.Asp300=) c.1156_1157delinsGA (p.Asp386=) c.994-3370_994-3369delinsGA (n.994-3370_994-3369delinsGA) c.782+4567_782+4568delinsGA (n.782+4567_782+4568delinsGA) c.*284_*285delinsGA (n.*284_*285delinsGA) c.*196_*197delinsGA (n.*196_*197delinsGA) c.130_131delinsGA c.1060_1061delinsGA (p.Asp354=) c.1144_1145delinsGA (p.Asp382=) c.700_701delinsGA (p.Asp234=) c.983+995_983+996delinsGA (n.983+995_983+996delinsGA) | |
| 17 | g.7669614del | CA658656516 | TP53 | c.1177del (p.Asp393ThrfsTer29) c.781del (p.Asp261ThrfsTer29) c.898del (p.Asp300ThrfsTer29) c.1156del (p.Asp386ThrfsTer29) c.994-3370del (n.994-3370del) c.782+4567del (n.782+4567del) c.*284del (n.*284del) c.*196del (n.*196del) c.130del c.1060del (p.Asp354ThrfsTer29) c.1144del (p.Asp382ThrfsTer?) c.700del (p.Asp234ThrfsTer29) c.983+995del (n.983+995del) | ClinVar dbSNP |
| 17 | g.7669614C>A | CA397829955 | TP53 | c.1177G>T (p.Asp393Tyr) c.781G>T (p.Asp261Tyr) c.898G>T (p.Asp300Tyr) c.1156G>T (p.Asp386Tyr) c.994-3370G>T (n.994-3370G>T) c.782+4567G>T (n.782+4567G>T) c.*284G>T (n.*284G>T) c.*196G>T (n.*196G>T) c.130G>T c.1060G>T (p.Asp354Tyr) c.1144G>T (p.Asp382Tyr) c.700G>T (p.Asp234Tyr) c.983+995G>T (n.983+995G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.7669614C= | CA2245940466 | TP53 | c.1177G= (p.Asp393=) c.781G= (p.Asp261=) c.898G= (p.Asp300=) c.1156G= (p.Asp386=) c.994-3370G= (n.994-3370G=) c.782+4567G= (n.782+4567G=) c.*284G= (n.*284G=) c.*196G= (n.*196G=) c.130G= c.1060G= (p.Asp354=) c.1144G= (p.Asp382=) c.700G= (p.Asp234=) c.983+995G= (n.983+995G=) | |
| 17 | g.7669614C>G | CA397829956 | TP53 | c.1177G>C (p.Asp393His) c.781G>C (p.Asp261His) c.898G>C (p.Asp300His) c.1156G>C (p.Asp386His) c.994-3370G>C (n.994-3370G>C) c.782+4567G>C (n.782+4567G>C) c.*284G>C (n.*284G>C) c.*196G>C (n.*196G>C) c.130G>C c.1060G>C (p.Asp354His) c.1144G>C (p.Asp382His) c.700G>C (p.Asp234His) c.983+995G>C (n.983+995G>C) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7669614C>T | CA397829958 | TP53 | c.1177G>A (p.Asp393Asn) c.781G>A (p.Asp261Asn) c.898G>A (p.Asp300Asn) c.1156G>A (p.Asp386Asn) c.994-3370G>A (n.994-3370G>A) c.782+4567G>A (n.782+4567G>A) c.*284G>A (n.*284G>A) c.*196G>A (n.*196G>A) c.130G>A c.1060G>A (p.Asp354Asn) c.1144G>A (p.Asp382Asn) c.700G>A (p.Asp234Asn) c.983+995G>A (n.983+995G>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.7669615T>A | CA497711130 | TP53 | c.1176A>T (p.Ser392=) c.780A>T (p.Ser260=) c.897A>T (p.Ser299=) c.1155A>T (p.Ser385=) c.994-3371A>T (n.994-3371A>T) c.782+4566A>T (n.782+4566A>T) c.*283A>T (n.*283A>T) c.*195A>T (n.*195A>T) c.129A>T c.1059A>T (p.Ser353=) c.1143A>T (p.Ser381=) c.699A>T (p.Ser233=) c.983+994A>T (n.983+994A>T) | |
| 17 | g.7669615T>C | CA497711132 | TP53 | c.1176A>G (p.Ser392=) c.780A>G (p.Ser260=) c.897A>G (p.Ser299=) c.1155A>G (p.Ser385=) c.994-3371A>G (n.994-3371A>G) c.782+4566A>G (n.782+4566A>G) c.*283A>G (n.*283A>G) c.*195A>G (n.*195A>G) c.129A>G c.1059A>G (p.Ser353=) c.1143A>G (p.Ser381=) c.699A>G (p.Ser233=) c.983+994A>G (n.983+994A>G) | |
| 17 | g.7669615T>G | CA497711134 | TP53 | c.1176A>C (p.Ser392=) c.780A>C (p.Ser260=) c.897A>C (p.Ser299=) c.1155A>C (p.Ser385=) c.994-3371A>C (n.994-3371A>C) c.782+4566A>C (n.782+4566A>C) c.*283A>C (n.*283A>C) c.*195A>C (n.*195A>C) c.129A>C c.1059A>C (p.Ser353=) c.1143A>C (p.Ser381=) c.699A>C (p.Ser233=) c.983+994A>C (n.983+994A>C) | |
| 17 | g.7669615_7669616insTCTT | CA2580094799 | TP53 | c.1176_1177insAGAA (p.Asp393ArgfsTer?) c.780_781insAGAA (p.Asp261ArgfsTer?) c.897_898insAGAA (p.Asp300ArgfsTer?) c.1155_1156insAGAA (p.Asp386ArgfsTer?) c.994-3371_994-3370insAGAA (n.994-3371_994-3370insAGAA) c.782+4566_782+4567insAGAA (n.782+4566_782+4567insAGAA) c.*283_*284insAGAA (n.*283_*284insAGAA) c.*195_*196insAGAA (n.*195_*196insAGAA) c.129_130insAGAA c.1059_1060insAGAA (p.Asp354ArgfsTer?) c.1143_1144insAGAA (p.Asp382ArgfsTer?) c.699_700insAGAA (p.Asp234ArgfsTer?) c.983+994_983+995insAGAA (n.983+994_983+995insAGAA) | ClinVar |
| 17 | g.7669615dup | CA645587285 | TP53 | c.1176dup (p.Asp393ArgfsTer?) c.780dup (p.Asp261ArgfsTer?) c.897dup (p.Asp300ArgfsTer?) c.1155dup (p.Asp386ArgfsTer?) c.994-3371dup (n.994-3371dup) c.782+4566dup (n.782+4566dup) c.*283dup (n.*283dup) c.*195dup (n.*195dup) c.129dup c.1059dup (p.Asp354ArgfsTer?) c.1143dup (p.Asp382ArgfsTer?) c.699dup (p.Asp234ArgfsTer?) c.983+994dup (n.983+994dup) | ClinVar COSMIC |
| 17 | g.7669615_7669616insA | CA497711149 | TP53 | c.1175_1176insT (p.Asp393ArgfsTer?) c.779_780insT (p.Asp261ArgfsTer?) c.896_897insT (p.Asp300ArgfsTer?) c.1154_1155insT (p.Asp386ArgfsTer?) c.994-3372_994-3371insT (n.994-3372_994-3371insT) c.782+4565_782+4566insT (n.782+4565_782+4566insT) c.*282_*283insT (n.*282_*283insT) c.*194_*195insT (n.*194_*195insT) c.128_129insT c.1058_1059insT (p.Asp354ArgfsTer?) c.1142_1143insT (p.Asp382ArgfsTer?) c.698_699insT (p.Asp234ArgfsTer?) c.983+993_983+994insT (n.983+993_983+994insT) | |
| 17 | g.7669616G>A | CA397829980 | TP53 | c.1175C>T (p.Ser392Leu) c.779C>T (p.Ser260Leu) c.896C>T (p.Ser299Leu) c.1154C>T (p.Ser385Leu) c.994-3372C>T (n.994-3372C>T) c.782+4565C>T (n.782+4565C>T) c.*282C>T (n.*282C>T) c.*194C>T (n.*194C>T) c.128C>T c.1058C>T (p.Ser353Leu) c.1142C>T (p.Ser381Leu) c.698C>T (p.Ser233Leu) c.983+993C>T (n.983+993C>T) | dbSNP gnomAD v4 COSMIC |
| 17 | g.7669616G>C | CA397829963 | TP53 | c.1175C>G (p.Ser392Ter) c.779C>G (p.Ser260Ter) c.896C>G (p.Ser299Ter) c.1154C>G (p.Ser385Ter) c.994-3372C>G (n.994-3372C>G) c.782+4565C>G (n.782+4565C>G) c.*282C>G (n.*282C>G) c.*194C>G (n.*194C>G) c.128C>G c.1058C>G (p.Ser353Ter) c.1142C>G (p.Ser381Ter) c.698C>G (p.Ser233Ter) c.983+993C>G (n.983+993C>G) | dbSNP |
| 17 | g.7669616G= | CA2245940480 | TP53 | c.1175C= (p.Ser392=) c.779C= (p.Ser260=) c.896C= (p.Ser299=) c.1154C= (p.Ser385=) c.994-3372C= (n.994-3372C=) c.782+4565C= (n.782+4565C=) c.*282C= (n.*282C=) c.*194C= (n.*194C=) c.128C= c.1058C= (p.Ser353=) c.1142C= (p.Ser381=) c.698C= (p.Ser233=) c.983+993C= (n.983+993C=) | |
| 17 | g.7669616G>T | CA000669 | TP53 | c.1175C>A (p.Ser392Ter) c.779C>A (p.Ser260Ter) c.896C>A (p.Ser299Ter) c.1154C>A (p.Ser385Ter) c.994-3372C>A (n.994-3372C>A) c.782+4565C>A (n.782+4565C>A) c.*282C>A (n.*282C>A) c.*194C>A (n.*194C>A) c.128C>A c.1058C>A (p.Ser353Ter) c.1142C>A (p.Ser381Ter) c.698C>A (p.Ser233Ter) c.983+993C>A (n.983+993C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.7669617A>C | CA397829988 | TP53 | c.1174T>G (p.Ser392Ala) c.778T>G (p.Ser260Ala) c.895T>G (p.Ser299Ala) c.1153T>G (p.Ser385Ala) c.994-3373T>G (n.994-3373T>G) c.782+4564T>G (n.782+4564T>G) c.*281T>G (n.*281T>G) c.*193T>G (n.*193T>G) c.127T>G c.1057T>G (p.Ser353Ala) c.1141T>G (p.Ser381Ala) c.697T>G (p.Ser233Ala) c.983+992T>G (n.983+992T>G) | |
| 17 | g.7669617A>G | CA397829995 | TP53 | c.1174T>C (p.Ser392Pro) c.778T>C (p.Ser260Pro) c.895T>C (p.Ser299Pro) c.1153T>C (p.Ser385Pro) c.994-3373T>C (n.994-3373T>C) c.782+4564T>C (n.782+4564T>C) c.*281T>C (n.*281T>C) c.*193T>C (n.*193T>C) c.127T>C c.1057T>C (p.Ser353Pro) c.1141T>C (p.Ser381Pro) c.697T>C (p.Ser233Pro) c.983+992T>C (n.983+992T>C) | ClinVar dbSNP |
| 17 | g.7669617A>T | CA397830000 | TP53 | c.1174T>A (p.Ser392Thr) c.778T>A (p.Ser260Thr) c.895T>A (p.Ser299Thr) c.1153T>A (p.Ser385Thr) c.994-3373T>A (n.994-3373T>A) c.782+4564T>A (n.782+4564T>A) c.*281T>A (n.*281T>A) c.*193T>A (n.*193T>A) c.127T>A c.1057T>A (p.Ser353Thr) c.1141T>A (p.Ser381Thr) c.697T>A (p.Ser233Thr) c.983+992T>A (n.983+992T>A) | dbSNP |
| 17 | g.7669619_7669622del | CA2695224213 | TP53 | c.1171_1174del (p.Asp391GlnfsTer30) c.775_778del (p.Asp259GlnfsTer30) c.892_895del (p.Asp298GlnfsTer30) c.1150_1153del (p.Asp384GlnfsTer30) c.994-3376_994-3373del (n.994-3376_994-3373del) c.782+4561_782+4564del (n.782+4561_782+4564del) c.*278_*281del (n.*278_*281del) c.*190_*193del (n.*190_*193del) c.124_127del c.1054_1057del (p.Asp352GlnfsTer30) c.1138_1141del (p.Asp380GlnfsTer?) c.694_697del (p.Asp232GlnfsTer30) c.983+989_983+992del (n.983+989_983+992del) | |
| 17 | g.7669618G>A | CA497711153 | TP53 | c.1173C>T (p.Asp391=) c.777C>T (p.Asp259=) c.894C>T (p.Asp298=) c.1152C>T (p.Asp384=) c.994-3374C>T (n.994-3374C>T) c.782+4563C>T (n.782+4563C>T) c.*280C>T (n.*280C>T) c.*192C>T (n.*192C>T) c.126C>T c.1056C>T (p.Asp352=) c.1140C>T (p.Asp380=) c.696C>T (p.Asp232=) c.983+991C>T (n.983+991C>T) | ClinVar dbSNP |
| 17 | g.7669618G>C | CA397830032 | TP53 | c.1173C>G (p.Asp391Glu) c.777C>G (p.Asp259Glu) c.894C>G (p.Asp298Glu) c.1152C>G (p.Asp384Glu) c.994-3374C>G (n.994-3374C>G) c.782+4563C>G (n.782+4563C>G) c.*280C>G (n.*280C>G) c.*192C>G (n.*192C>G) c.126C>G c.1056C>G (p.Asp352Glu) c.1140C>G (p.Asp380Glu) c.696C>G (p.Asp232Glu) c.983+991C>G (n.983+991C>G) | ClinVar dbSNP |
| 17 | g.7669618G= | CA2245940490 | TP53 | c.1173C= (p.Asp391=) c.777C= (p.Asp259=) c.894C= (p.Asp298=) c.1152C= (p.Asp384=) c.994-3374C= (n.994-3374C=) c.782+4563C= (n.782+4563C=) c.*280C= (n.*280C=) c.*192C= (n.*192C=) c.126C= c.1056C= (p.Asp352=) c.1140C= (p.Asp380=) c.696C= (p.Asp232=) c.983+991C= (n.983+991C=) | |
| 17 | g.7669618G>T | CA397830036 | TP53 | c.1173C>A (p.Asp391Glu) c.777C>A (p.Asp259Glu) c.894C>A (p.Asp298Glu) c.1152C>A (p.Asp384Glu) c.994-3374C>A (n.994-3374C>A) c.782+4563C>A (n.782+4563C>A) c.*280C>A (n.*280C>A) c.*192C>A (n.*192C>A) c.126C>A c.1056C>A (p.Asp352Glu) c.1140C>A (p.Asp380Glu) c.696C>A (p.Asp232Glu) c.983+991C>A (n.983+991C>A) | dbSNP |
| 17 | g.7669619T>A | CA397830069 | TP53 | c.1172A>T (p.Asp391Val) c.776A>T (p.Asp259Val) c.893A>T (p.Asp298Val) c.1151A>T (p.Asp384Val) c.994-3375A>T (n.994-3375A>T) c.782+4562A>T (n.782+4562A>T) c.*279A>T (n.*279A>T) c.*191A>T (n.*191A>T) c.125A>T c.1055A>T (p.Asp352Val) c.1139A>T (p.Asp380Val) c.695A>T (p.Asp232Val) c.983+990A>T (n.983+990A>T) | dbSNP |