UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109798666_109798668del | CA2620828299 | TRPV4 | c.1102_1104del (p.Asn368del) c.*189_*191del (n.*189_*191del) n.1133_1135del c.1000_1002del (p.Asn334del) c.961_963del (p.Asn321del) c.1255_1257del (p.Asn419del) c.1114_1116del (p.Asn372del) | gnomAD v4 |
| 12 | g.109798668G>A | CA481867244 | TRPV4 | c.1098C>T (p.Leu366=) c.*185C>T (n.*185C>T) n.1129C>T c.996C>T (p.Leu332=) c.957C>T (p.Leu319=) c.1251C>T (p.Leu417=) c.1110C>T (p.Leu370=) | COSMIC |
| 12 | g.109798668G>C | CA481867247 | TRPV4 | c.1098C>G (p.Leu366=) c.*185C>G (n.*185C>G) n.1129C>G c.996C>G (p.Leu332=) c.957C>G (p.Leu319=) c.1251C>G (p.Leu417=) c.1110C>G (p.Leu370=) | |
| 12 | g.109798668G>T | CA481867246 | TRPV4 | c.1098C>A (p.Leu366=) c.*185C>A (n.*185C>A) n.1129C>A c.996C>A (p.Leu332=) c.957C>A (p.Leu319=) c.1251C>A (p.Leu417=) c.1110C>A (p.Leu370=) | |
| 12 | g.109798669A= | CA2062572861 | TRPV4 | c.1097T= (p.Leu366=) c.*184T= (n.*184T=) n.1128T= c.995T= (p.Leu332=) c.956T= (p.Leu319=) c.1250T= (p.Leu417=) c.1109T= (p.Leu370=) | |
| 12 | g.109798669A>C | CA386654201 | TRPV4 | c.1097T>G (p.Leu366Arg) c.*184T>G (n.*184T>G) n.1128T>G c.995T>G (p.Leu332Arg) c.956T>G (p.Leu319Arg) c.1250T>G (p.Leu417Arg) c.1109T>G (p.Leu370Arg) | |
| 12 | g.109798669A>G | CA386654203 | TRPV4 | c.1097T>C (p.Leu366Pro) c.*184T>C (n.*184T>C) n.1128T>C c.995T>C (p.Leu332Pro) c.956T>C (p.Leu319Pro) c.1250T>C (p.Leu417Pro) c.1109T>C (p.Leu370Pro) | dbSNP gnomAD v2 |
| 12 | g.109798669A>T | CA386654204 | TRPV4 | c.1097T>A (p.Leu366His) c.*184T>A (n.*184T>A) n.1128T>A c.995T>A (p.Leu332His) c.956T>A (p.Leu319His) c.1250T>A (p.Leu417His) c.1109T>A (p.Leu370His) | |
| 12 | g.109798670G>A | CA386654206 | TRPV4 | c.1096C>T (p.Leu366Phe) c.*183C>T (n.*183C>T) n.1127C>T c.994C>T (p.Leu332Phe) c.955C>T (p.Leu319Phe) c.1249C>T (p.Leu417Phe) c.1108C>T (p.Leu370Phe) | |
| 12 | g.109798670G>C | CA386654208 | TRPV4 | c.1096C>G (p.Leu366Val) c.*183C>G (n.*183C>G) n.1127C>G c.994C>G (p.Leu332Val) c.955C>G (p.Leu319Val) c.1249C>G (p.Leu417Val) c.1108C>G (p.Leu370Val) | |
| 12 | g.109798670G>T | CA386654209 | TRPV4 | c.1096C>A (p.Leu366Ile) c.*183C>A (n.*183C>A) n.1127C>A c.994C>A (p.Leu332Ile) c.955C>A (p.Leu319Ile) c.1249C>A (p.Leu417Ile) c.1108C>A (p.Leu370Ile) | |
| 12 | g.109798671C>A | CA481867253 | TRPV4 | c.1095G>T (p.Val365=) c.*182G>T (n.*182G>T) n.1126G>T c.993G>T (p.Val331=) c.954G>T (p.Val318=) c.1248G>T (p.Val416=) c.1107G>T (p.Val369=) | COSMIC |
| 12 | g.109798671C>G | CA481867258 | TRPV4 | c.1095G>C (p.Val365=) c.*182G>C (n.*182G>C) n.1126G>C c.993G>C (p.Val331=) c.954G>C (p.Val318=) c.1248G>C (p.Val416=) c.1107G>C (p.Val369=) | |
| 12 | g.109798671C>T | CA481867259 | TRPV4 | c.1095G>A (p.Val365=) c.*182G>A (n.*182G>A) n.1126G>A c.993G>A (p.Val331=) c.954G>A (p.Val318=) c.1248G>A (p.Val416=) c.1107G>A (p.Val369=) | |
| 12 | g.109798672A>C | CA386654215 | TRPV4 | c.1094T>G (p.Val365Gly) c.*181T>G (n.*181T>G) n.1125T>G c.992T>G (p.Val331Gly) c.953T>G (p.Val318Gly) c.1247T>G (p.Val416Gly) c.1106T>G (p.Val369Gly) | |
| 12 | g.109798672A>G | CA386654214 | TRPV4 | c.1094T>C (p.Val365Ala) c.*181T>C (n.*181T>C) n.1125T>C c.992T>C (p.Val331Ala) c.953T>C (p.Val318Ala) c.1247T>C (p.Val416Ala) c.1106T>C (p.Val369Ala) | |
| 12 | g.109798672A>T | CA386654212 | TRPV4 | c.1094T>A (p.Val365Glu) c.*181T>A (n.*181T>A) n.1125T>A c.992T>A (p.Val331Glu) c.953T>A (p.Val318Glu) c.1247T>A (p.Val416Glu) c.1106T>A (p.Val369Glu) | |
| 12 | g.109798672_109798690delinsACGGCCTCCAGGTTGCTGT | CA2062572863 | TRPV4 | c.1076_1094delinsACAGCAACCTGGAGGCCGT (p.Asp359=) c.*163_*181delinsACAGCAACCTGGAGGCCGT (n.*163_*181delinsACAGCAACCTGGAGGCCGT) n.1107_1125delinsACAGCAACCTGGAGGCCGT c.974_992delinsACAGCAACCTGGAGGCCGT (p.Asp325=) c.935_953delinsACAGCAACCTGGAGGCCGT (p.Asp312=) c.1229_1247delinsACAGCAACCTGGAGGCCGT (p.Asp410=) c.1088_1106delinsACAGCAACCTGGAGGCCGT (p.Asp363=) | |
| 12 | g.109798673C>A | CA386654217 | TRPV4 | c.1093G>T (p.Val365Leu) c.*180G>T (n.*180G>T) n.1124G>T c.991G>T (p.Val331Leu) c.952G>T (p.Val318Leu) c.1246G>T (p.Val416Leu) c.1105G>T (p.Val369Leu) | |
| 12 | g.109798673C= | CA2062572871 | TRPV4 | c.1093G= (p.Val365=) c.*180G= (n.*180G=) n.1124G= c.991G= (p.Val331=) c.952G= (p.Val318=) c.1246G= (p.Val416=) c.1105G= (p.Val369=) | |
| 12 | g.109798673C>G | CA386654219 | TRPV4 | c.1093G>C (p.Val365Leu) c.*180G>C (n.*180G>C) n.1124G>C c.991G>C (p.Val331Leu) c.952G>C (p.Val318Leu) c.1246G>C (p.Val416Leu) c.1105G>C (p.Val369Leu) | ClinVar |
| 12 | g.109798673C>T | CA6780353 | TRPV4 | c.1093G>A (p.Val365Met) c.*180G>A (n.*180G>A) n.1124G>A c.991G>A (p.Val331Met) c.952G>A (p.Val318Met) c.1246G>A (p.Val416Met) c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798676_109798693del | CA915946699 | TRPV4 | c.1076_1093del (p.Asp359_Ala364del) c.*163_*180del (n.*163_*180del) n.1107_1124del c.974_991del (p.Asp325_Ala330del) c.935_952del (p.Asp312_Ala317del) c.1229_1246del (p.Asp410_Ala415del) c.1088_1105del (p.Asp363_Ala368del) | ClinVar dbSNP |
| 12 | g.109798674G>A | CA6780354 | TRPV4 | c.1092C>T (p.Ala364=) c.*179C>T (n.*179C>T) n.1123C>T c.990C>T (p.Ala330=) c.951C>T (p.Ala317=) c.1245C>T (p.Ala415=) c.1104C>T (p.Ala368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109798674G>C | CA481867267 | TRPV4 | c.1092C>G (p.Ala364=) c.*179C>G (n.*179C>G) n.1123C>G c.990C>G (p.Ala330=) c.951C>G (p.Ala317=) c.1245C>G (p.Ala415=) c.1104C>G (p.Ala368=) | |
| 12 | g.109798674G= | CA2062572874 | TRPV4 | c.1092C= (p.Ala364=) c.*179C= (n.*179C=) n.1123C= c.990C= (p.Ala330=) c.951C= (p.Ala317=) c.1245C= (p.Ala415=) c.1104C= (p.Ala368=) | |
| 12 | g.109798674G>T | CA481867268 | TRPV4 | c.1092C>A (p.Ala364=) c.*179C>A (n.*179C>A) n.1123C>A c.990C>A (p.Ala330=) c.951C>A (p.Ala317=) c.1245C>A (p.Ala415=) c.1104C>A (p.Ala368=) | |
| 12 | g.109798675G>A | CA386654226 | TRPV4 | c.1091C>T (p.Ala364Val) c.*178C>T (n.*178C>T) n.1122C>T c.989C>T (p.Ala330Val) c.950C>T (p.Ala317Val) c.1244C>T (p.Ala415Val) c.1103C>T (p.Ala368Val) | COSMIC |
| 12 | g.109798675G>C | CA386654223 | TRPV4 | c.1091C>G (p.Ala364Gly) c.*178C>G (n.*178C>G) n.1122C>G c.989C>G (p.Ala330Gly) c.950C>G (p.Ala317Gly) c.1244C>G (p.Ala415Gly) c.1103C>G (p.Ala368Gly) | |
| 12 | g.109798675G>T | CA386654224 | TRPV4 | c.1091C>A (p.Ala364Asp) c.*178C>A (n.*178C>A) n.1122C>A c.989C>A (p.Ala330Asp) c.950C>A (p.Ala317Asp) c.1244C>A (p.Ala415Asp) c.1103C>A (p.Ala368Asp) | |
| 12 | g.109798676C>A | CA386654228 | TRPV4 | c.1090G>T (p.Ala364Ser) c.*177G>T (n.*177G>T) n.1121G>T c.988G>T (p.Ala330Ser) c.949G>T (p.Ala317Ser) c.1243G>T (p.Ala415Ser) c.1102G>T (p.Ala368Ser) | |
| 12 | g.109798676C= | CA2062572877 | TRPV4 | c.1090G= (p.Ala364=) c.*177G= (n.*177G=) n.1121G= c.988G= (p.Ala330=) c.949G= (p.Ala317=) c.1243G= (p.Ala415=) c.1102G= (p.Ala368=) | |
| 12 | g.109798676C>G | CA386654230 | TRPV4 | c.1090G>C (p.Ala364Pro) c.*177G>C (n.*177G>C) n.1121G>C c.988G>C (p.Ala330Pro) c.949G>C (p.Ala317Pro) c.1243G>C (p.Ala415Pro) c.1102G>C (p.Ala368Pro) | |
| 12 | g.109798676C>T | CA243467529 | TRPV4 | c.1090G>A (p.Ala364Thr) c.*177G>A (n.*177G>A) n.1121G>A c.988G>A (p.Ala330Thr) c.949G>A (p.Ala317Thr) c.1243G>A (p.Ala415Thr) c.1102G>A (p.Ala368Thr) | dbSNP |
| 12 | g.109798677C>A | CA386654232 | TRPV4 | c.1089G>T (p.Glu363Asp) c.*176G>T (n.*176G>T) n.1120G>T c.987G>T (p.Glu329Asp) c.948G>T (p.Glu316Asp) c.1242G>T (p.Glu414Asp) c.1101G>T (p.Glu367Asp) | |
| 12 | g.109798677C>G | CA386654234 | TRPV4 | c.1089G>C (p.Glu363Asp) c.*176G>C (n.*176G>C) n.1120G>C c.987G>C (p.Glu329Asp) c.948G>C (p.Glu316Asp) c.1242G>C (p.Glu414Asp) c.1101G>C (p.Glu367Asp) | |
| 12 | g.109798677C>T | CA481867275 | TRPV4 | c.1089G>A (p.Glu363=) c.*176G>A (n.*176G>A) n.1120G>A c.987G>A (p.Glu329=) c.948G>A (p.Glu316=) c.1242G>A (p.Glu414=) c.1101G>A (p.Glu367=) | |
| 12 | g.109798678T>A | CA386654236 | TRPV4 | c.1088A>T (p.Glu363Val) c.*175A>T (n.*175A>T) n.1119A>T c.986A>T (p.Glu329Val) c.947A>T (p.Glu316Val) c.1241A>T (p.Glu414Val) c.1100A>T (p.Glu367Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798678T>C | CA386654237 | TRPV4 | c.1088A>G (p.Glu363Gly) c.*175A>G (n.*175A>G) n.1119A>G c.986A>G (p.Glu329Gly) c.947A>G (p.Glu316Gly) c.1241A>G (p.Glu414Gly) c.1100A>G (p.Glu367Gly) | |
| 12 | g.109798678T>G | CA386654239 | TRPV4 | c.1088A>C (p.Glu363Ala) c.*175A>C (n.*175A>C) n.1119A>C c.986A>C (p.Glu329Ala) c.947A>C (p.Glu316Ala) c.1241A>C (p.Glu414Ala) c.1100A>C (p.Glu367Ala) | |
| 12 | g.109798678T= | CA2062572879 | TRPV4 | c.1088A= (p.Glu363=) c.*175A= (n.*175A=) n.1119A= c.986A= (p.Glu329=) c.947A= (p.Glu316=) c.1241A= (p.Glu414=) c.1100A= (p.Glu367=) | |
| 12 | g.109798678_109798679delinsAA | CA916081680 | TRPV4 | c.1087_1088delinsTT (p.Glu363Leu) c.*174_*175delinsTT (n.*174_*175delinsTT) n.1118_1119delinsTT c.985_986delinsTT (p.Glu329Leu) c.946_947delinsTT (p.Glu316Leu) c.1240_1241delinsTT (p.Glu414Leu) c.1099_1100delinsTT (p.Glu367Leu) | ClinVar dbSNP |
| 12 | g.109798678_109798679delinsTC | CA2062572880 | TRPV4 | c.1087_1088delinsGA (p.Glu363=) c.*174_*175delinsGA (n.*174_*175delinsGA) n.1118_1119delinsGA c.985_986delinsGA (p.Glu329=) c.946_947delinsGA (p.Glu316=) c.1240_1241delinsGA (p.Glu414=) c.1099_1100delinsGA (p.Glu367=) | |
| 12 | g.109798679C>A | CA386654241 | TRPV4 | c.1087G>T (p.Glu363Ter) c.*174G>T (n.*174G>T) n.1118G>T c.985G>T (p.Glu329Ter) c.946G>T (p.Glu316Ter) c.1240G>T (p.Glu414Ter) c.1099G>T (p.Glu367Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798679C= | CA2062572884 | TRPV4 | c.1087G= (p.Glu363=) c.*174G= (n.*174G=) n.1118G= c.985G= (p.Glu329=) c.946G= (p.Glu316=) c.1240G= (p.Glu414=) c.1099G= (p.Glu367=) | |
| 12 | g.109798679C>G | CA386654243 | TRPV4 | c.1087G>C (p.Glu363Gln) c.*174G>C (n.*174G>C) n.1118G>C c.985G>C (p.Glu329Gln) c.946G>C (p.Glu316Gln) c.1240G>C (p.Glu414Gln) c.1099G>C (p.Glu367Gln) | ClinVar dbSNP |
| 12 | g.109798679C>T | CA386654245 | TRPV4 | c.1087G>A (p.Glu363Lys) c.*174G>A (n.*174G>A) n.1118G>A c.985G>A (p.Glu329Lys) c.946G>A (p.Glu316Lys) c.1240G>A (p.Glu414Lys) c.1099G>A (p.Glu367Lys) | |
| 12 | g.109798680C>A | CA481867285 | TRPV4 | c.1086G>T (p.Leu362=) c.*173G>T (n.*173G>T) n.1117G>T c.984G>T (p.Leu328=) c.945G>T (p.Leu315=) c.1239G>T (p.Leu413=) c.1098G>T (p.Leu366=) | |
| 12 | g.109798680C>G | CA481867282 | TRPV4 | c.1086G>C (p.Leu362=) c.*173G>C (n.*173G>C) n.1117G>C c.984G>C (p.Leu328=) c.945G>C (p.Leu315=) c.1239G>C (p.Leu413=) c.1098G>C (p.Leu366=) | |
| 12 | g.109798680C>T | CA481867283 | TRPV4 | c.1086G>A (p.Leu362=) c.*173G>A (n.*173G>A) n.1117G>A c.984G>A (p.Leu328=) c.945G>A (p.Leu315=) c.1239G>A (p.Leu413=) c.1098G>A (p.Leu366=) |