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.47844080_47844853del | CA2697559199 | VDR | c.1181_*469del (n.[c.1181_*469del;Asn394ThrfsTer?]) c.1181_*670del (n.[c.1181_*670del;Asn394ThrfsTer?]) c.1331_*670del (n.[c.1331_*670del;Asn444ThrfsTer?]) | ClinVar |
| 12 | g.47844821G>A | CA479696471 | VDR | c.1209C>T (p.Cys403=) c.*1211C>T (n.*1211C>T) c.1359C>T (p.Cys453=) c.1278C>T (p.Cys426=) | |
| 12 | g.47844821G>C | CA384513907 | VDR | c.1209C>G (p.Cys403Trp) c.*1211C>G (n.*1211C>G) c.1359C>G (p.Cys453Trp) c.1278C>G (p.Cys426Trp) | |
| 12 | g.47844821G>T | CA384513910 | VDR | c.1209C>A (p.Cys403Ter) c.*1211C>A (n.*1211C>A) c.1359C>A (p.Cys453Ter) c.1278C>A (p.Cys426Ter) | |
| 12 | g.47844822C>A | CA384513922 | VDR | c.1208G>T (p.Cys403Phe) c.*1210G>T (n.*1210G>T) c.1358G>T (p.Cys453Phe) c.1277G>T (p.Cys426Phe) | gnomAD v4 |
| 12 | g.47844822C= | CA2034408948 | VDR | c.1208G= (p.Cys403=) c.*1210G= (n.*1210G=) c.1358G= (p.Cys453=) c.1277G= (p.Cys426=) | |
| 12 | g.47844822C>G | CA6533725 | VDR | c.1208G>C (p.Cys403Ser) c.*1210G>C (n.*1210G>C) c.1358G>C (p.Cys453Ser) c.1277G>C (p.Cys426Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844822C>T | CA384513925 | VDR | c.1208G>A (p.Cys403Tyr) c.*1210G>A (n.*1210G>A) c.1358G>A (p.Cys453Tyr) c.1277G>A (p.Cys426Tyr) | |
| 12 | g.47844823A>C | CA384513930 | VDR | c.1207T>G (p.Cys403Gly) c.*1209T>G (n.*1209T>G) c.1357T>G (p.Cys453Gly) c.1276T>G (p.Cys426Gly) | |
| 12 | g.47844823A>G | CA384513931 | VDR | c.1207T>C (p.Cys403Arg) c.*1209T>C (n.*1209T>C) c.1357T>C (p.Cys453Arg) c.1276T>C (p.Cys426Arg) | gnomAD v4 |
| 12 | g.47844823A>T | CA384513933 | VDR | c.1207T>A (p.Cys403Ser) c.*1209T>A (n.*1209T>A) c.1357T>A (p.Cys453Ser) c.1276T>A (p.Cys426Ser) | |
| 12 | g.47844824G>A | CA479696472 | VDR | c.1206C>T (p.Arg402=) c.*1208C>T (n.*1208C>T) c.1356C>T (p.Arg452=) c.1275C>T (p.Arg425=) | |
| 12 | g.47844824G>C | CA479696473 | VDR | c.1206C>G (p.Arg402=) c.*1208C>G (n.*1208C>G) c.1356C>G (p.Arg452=) c.1275C>G (p.Arg425=) | |
| 12 | g.47844824G= | CA2034408949 | VDR | c.1206C= (p.Arg402=) c.*1208C= (n.*1208C=) c.1356C= (p.Arg452=) c.1275C= (p.Arg425=) | |
| 12 | g.47844824G>T | CA6533726 | VDR | c.1206C>A (p.Arg402=) c.*1208C>A (n.*1208C>A) c.1356C>A (p.Arg452=) c.1275C>A (p.Arg425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844826_47844833del | CA2695216861 | VDR | c.1199_1206del (p.Gln400LeufsTer7) c.*1201_*1208del (n.*1201_*1208del) c.1349_1356del (p.Gln450LeufsTer7) c.1268_1275del (p.Gln423LeufsTer7) | |
| 12 | g.47844825C>A | CA384513938 | VDR | c.1205G>T (p.Arg402Leu) c.*1207G>T (n.*1207G>T) c.1355G>T (p.Arg452Leu) c.1274G>T (p.Arg425Leu) | |
| 12 | g.47844825C>G | CA384513940 | VDR | c.1205G>C (p.Arg402Pro) c.*1207G>C (n.*1207G>C) c.1355G>C (p.Arg452Pro) c.1274G>C (p.Arg425Pro) | COSMIC COSMIC |
| 12 | g.47844825C>T | CA384513937 | VDR | c.1205G>A (p.Arg402His) c.*1207G>A (n.*1207G>A) c.1355G>A (p.Arg452His) c.1274G>A (p.Arg425His) | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.47844826G>A | CA384513943 | VDR | c.1204C>T (p.Arg402Cys) c.*1206C>T (n.*1206C>T) c.1354C>T (p.Arg452Cys) c.1273C>T (p.Arg425Cys) | ClinVar dbSNP |
| 12 | g.47844826G>C | CA384513945 | VDR | c.1204C>G (p.Arg402Gly) c.*1206C>G (n.*1206C>G) c.1354C>G (p.Arg452Gly) c.1273C>G (p.Arg425Gly) | |
| 12 | g.47844826G= | CA2034408950 | VDR | c.1204C= (p.Arg402=) c.*1206C= (n.*1206C=) c.1354C= (p.Arg452=) c.1273C= (p.Arg425=) | |
| 12 | g.47844826G>T | CA384513947 | VDR | c.1204C>A (p.Arg402Ser) c.*1206C>A (n.*1206C>A) c.1354C>A (p.Arg452Ser) c.1273C>A (p.Arg425Ser) | |
| 12 | g.47844827G>A | CA6533727 | VDR | c.1203C>T (p.Tyr401=) c.*1205C>T (n.*1205C>T) c.1353C>T (p.Tyr451=) c.1272C>T (p.Tyr424=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844827G>C | CA384513950 | VDR | c.1203C>G (p.Tyr401Ter) c.*1205C>G (n.*1205C>G) c.1353C>G (p.Tyr451Ter) c.1272C>G (p.Tyr424Ter) | |
| 12 | g.47844827G= | CA2034408951 | VDR | c.1203C= (p.Tyr401=) c.*1205C= (n.*1205C=) c.1353C= (p.Tyr451=) c.1272C= (p.Tyr424=) | |
| 12 | g.47844827G>T | CA384513960 | VDR | c.1203C>A (p.Tyr401Ter) c.*1205C>A (n.*1205C>A) c.1353C>A (p.Tyr451Ter) c.1272C>A (p.Tyr424Ter) | |
| 12 | g.47844828T>A | CA384513969 | VDR | c.1202A>T (p.Tyr401Phe) c.*1204A>T (n.*1204A>T) c.1352A>T (p.Tyr451Phe) c.1271A>T (p.Tyr424Phe) | |
| 12 | g.47844828T>C | CA384513964 | VDR | c.1202A>G (p.Tyr401Cys) c.*1204A>G (n.*1204A>G) c.1352A>G (p.Tyr451Cys) c.1271A>G (p.Tyr424Cys) | |
| 12 | g.47844828T>G | CA384513966 | VDR | c.1202A>C (p.Tyr401Ser) c.*1204A>C (n.*1204A>C) c.1352A>C (p.Tyr451Ser) c.1271A>C (p.Tyr424Ser) | |
| 12 | g.47844920_47844921insAGGCAGCGTTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGG | CA2618497253 | VDR | c.1202_1203insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (p.Tyr401Ter) c.*1204_*1205insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (n.*1204_*1205insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA) c.1352_1353insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (p.Tyr451Ter) c.1271_1272insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (p.Tyr424Ter) | gnomAD v4 |
| 12 | g.47844829A>C | CA384513970 | VDR | c.1201T>G (p.Tyr401Asp) c.*1203T>G (n.*1203T>G) c.1351T>G (p.Tyr451Asp) c.1270T>G (p.Tyr424Asp) | |
| 12 | g.47844829A>G | CA384513975 | VDR | c.1201T>C (p.Tyr401His) c.*1203T>C (n.*1203T>C) c.1351T>C (p.Tyr451His) c.1270T>C (p.Tyr424His) | |
| 12 | g.47844829A>T | CA384513978 | VDR | c.1201T>A (p.Tyr401Asn) c.*1203T>A (n.*1203T>A) c.1351T>A (p.Tyr451Asn) c.1270T>A (p.Tyr424Asn) | |
| 12 | g.47844830C>A | CA384513981 | VDR | c.1200G>T (p.Gln400His) c.*1202G>T (n.*1202G>T) c.1350G>T (p.Gln450His) c.1269G>T (p.Gln423His) | |
| 12 | g.47844830C>G | CA384513984 | VDR | c.1200G>C (p.Gln400His) c.*1202G>C (n.*1202G>C) c.1350G>C (p.Gln450His) c.1269G>C (p.Gln423His) | |
| 12 | g.47844830C>T | CA479696474 | VDR | c.1200G>A (p.Gln400=) c.*1202G>A (n.*1202G>A) c.1350G>A (p.Gln450=) c.1269G>A (p.Gln423=) | |
| 12 | g.47844831T>A | CA384513991 | VDR | c.1199A>T (p.Gln400Leu) c.*1201A>T (n.*1201A>T) c.1349A>T (p.Gln450Leu) c.1268A>T (p.Gln423Leu) | |
| 12 | g.47844831T>C | CA384513989 | VDR | c.1199A>G (p.Gln400Arg) c.*1201A>G (n.*1201A>G) c.1349A>G (p.Gln450Arg) c.1268A>G (p.Gln423Arg) | gnomAD v4 |
| 12 | g.47844831T>G | CA384513987 | VDR | c.1199A>C (p.Gln400Pro) c.*1201A>C (n.*1201A>C) c.1349A>C (p.Gln450Pro) c.1268A>C (p.Gln423Pro) | |
| 12 | g.47844832G>A | CA384513993 | VDR | c.1198C>T (p.Gln400Ter) c.*1200C>T (n.*1200C>T) c.1348C>T (p.Gln450Ter) c.1267C>T (p.Gln423Ter) | COSMIC COSMIC |
| 12 | g.47844832G>C | CA384513996 | VDR | c.1198C>G (p.Gln400Glu) c.*1200C>G (n.*1200C>G) c.1348C>G (p.Gln450Glu) c.1267C>G (p.Gln423Glu) | |
| 12 | g.47844832G>T | CA384514000 | VDR | c.1198C>A (p.Gln400Lys) c.*1200C>A (n.*1200C>A) c.1348C>A (p.Gln450Lys) c.1267C>A (p.Gln423Lys) | |
| 12 | g.47844833C>A | CA384514002 | VDR | c.1197G>T (p.Lys399Asn) c.*1199G>T (n.*1199G>T) c.1347G>T (p.Lys449Asn) c.1266G>T (p.Lys422Asn) | |
| 12 | g.47844833C>G | CA384514004 | VDR | c.1197G>C (p.Lys399Asn) c.*1199G>C (n.*1199G>C) c.1347G>C (p.Lys449Asn) c.1266G>C (p.Lys422Asn) | |
| 12 | g.47844833C>T | CA479696475 | VDR | c.1197G>A (p.Lys399=) c.*1199G>A (n.*1199G>A) c.1347G>A (p.Lys449=) c.1266G>A (p.Lys422=) | |
| 12 | g.47844834T>A | CA384514008 | VDR | c.1196A>T (p.Lys399Met) c.*1198A>T (n.*1198A>T) c.1346A>T (p.Lys449Met) c.1265A>T (p.Lys422Met) | COSMIC COSMIC |
| 12 | g.47844834T>C | CA384514010 | VDR | c.1196A>G (p.Lys399Arg) c.*1198A>G (n.*1198A>G) c.1346A>G (p.Lys449Arg) c.1265A>G (p.Lys422Arg) | |
| 12 | g.47844834T>G | CA384514013 | VDR | c.1196A>C (p.Lys399Thr) c.*1198A>C (n.*1198A>C) c.1346A>C (p.Lys449Thr) c.1265A>C (p.Lys422Thr) | |
| 12 | g.47844835T>A | CA384514015 | VDR | c.1195A>T (p.Lys399Ter) c.*1197A>T (n.*1197A>T) c.1345A>T (p.Lys449Ter) c.1264A>T (p.Lys422Ter) |