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.47844808G>A | CA384513850 | VDR | c.1222C>T (p.Pro408Ser) c.*1224C>T (n.*1224C>T) c.1372C>T (p.Pro458Ser) c.1291C>T (p.Pro431Ser) | gnomAD v4 |
| 12 | g.47844808G>C | CA384513851 | VDR | c.1222C>G (p.Pro408Ala) c.*1224C>G (n.*1224C>G) c.1372C>G (p.Pro458Ala) c.1291C>G (p.Pro431Ala) | |
| 12 | g.47844808G>T | CA384513853 | VDR | c.1222C>A (p.Pro408Thr) c.*1224C>A (n.*1224C>A) c.1372C>A (p.Pro458Thr) c.1291C>A (p.Pro431Thr) | |
| 12 | g.47844809C>A | CA384513855 | VDR | c.1221G>T (p.Gln407His) c.*1223G>T (n.*1223G>T) c.1371G>T (p.Gln457His) c.1290G>T (p.Gln430His) | |
| 12 | g.47844809C>G | CA384513856 | VDR | c.1221G>C (p.Gln407His) c.*1223G>C (n.*1223G>C) c.1371G>C (p.Gln457His) c.1290G>C (p.Gln430His) | |
| 12 | g.47844809C>T | CA479696463 | VDR | c.1221G>A (p.Gln407=) c.*1223G>A (n.*1223G>A) c.1371G>A (p.Gln457=) c.1290G>A (p.Gln430=) | gnomAD v4 |
| 12 | g.47844810T>A | CA384513859 | VDR | c.1220A>T (p.Gln407Leu) c.*1222A>T (n.*1222A>T) c.1370A>T (p.Gln457Leu) c.1289A>T (p.Gln430Leu) | |
| 12 | g.47844810T>C | CA384513860 | VDR | c.1220A>G (p.Gln407Arg) c.*1222A>G (n.*1222A>G) c.1370A>G (p.Gln457Arg) c.1289A>G (p.Gln430Arg) | |
| 12 | g.47844810T>G | CA384513863 | VDR | c.1220A>C (p.Gln407Pro) c.*1222A>C (n.*1222A>C) c.1370A>C (p.Gln457Pro) c.1289A>C (p.Gln430Pro) | |
| 12 | g.47844811G>A | CA384513866 | VDR | c.1219C>T (p.Gln407Ter) c.*1221C>T (n.*1221C>T) c.1369C>T (p.Gln457Ter) c.1288C>T (p.Gln430Ter) | |
| 12 | g.47844811G>C | CA384513867 | VDR | c.1219C>G (p.Gln407Glu) c.*1221C>G (n.*1221C>G) c.1369C>G (p.Gln457Glu) c.1288C>G (p.Gln430Glu) | |
| 12 | g.47844811G>T | CA384513868 | VDR | c.1219C>A (p.Gln407Lys) c.*1221C>A (n.*1221C>A) c.1369C>A (p.Gln457Lys) c.1288C>A (p.Gln430Lys) | |
| 12 | g.47844812G>A | CA479696464 | VDR | c.1218C>T (p.Phe406=) c.*1220C>T (n.*1220C>T) c.1368C>T (p.Phe456=) c.1287C>T (p.Phe429=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844812G>C | CA384513869 | VDR | c.1218C>G (p.Phe406Leu) c.*1220C>G (n.*1220C>G) c.1368C>G (p.Phe456Leu) c.1287C>G (p.Phe429Leu) | |
| 12 | g.47844812G= | CA2034408944 | VDR | c.1218C= (p.Phe406=) c.*1220C= (n.*1220C=) c.1368C= (p.Phe456=) c.1287C= (p.Phe429=) | |
| 12 | g.47844812G>T | CA384513870 | VDR | c.1218C>A (p.Phe406Leu) c.*1220C>A (n.*1220C>A) c.1368C>A (p.Phe456Leu) c.1287C>A (p.Phe429Leu) | |
| 12 | g.47844813A>C | CA384513877 | VDR | c.1217T>G (p.Phe406Cys) c.*1219T>G (n.*1219T>G) c.1367T>G (p.Phe456Cys) c.1286T>G (p.Phe429Cys) | |
| 12 | g.47844813A>G | CA384513876 | VDR | c.1217T>C (p.Phe406Ser) c.*1219T>C (n.*1219T>C) c.1367T>C (p.Phe456Ser) c.1286T>C (p.Phe429Ser) | |
| 12 | g.47844813A>T | CA384513874 | VDR | c.1217T>A (p.Phe406Tyr) c.*1219T>A (n.*1219T>A) c.1367T>A (p.Phe456Tyr) c.1286T>A (p.Phe429Tyr) | |
| 12 | g.47844814dup | CA6533724 | VDR | c.1217dup (p.Gln407ProfsTer3) c.*1219dup (n.*1219dup) c.1367dup (p.Gln457ProfsTer3) c.1286dup (p.Gln430ProfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844814A= | CA2034408945 | VDR | c.1216T= (p.Phe406=) c.*1218T= (n.*1218T=) c.1366T= (p.Phe456=) c.1285T= (p.Phe429=) | |
| 12 | g.47844814A>C | CA384513878 | VDR | c.1216T>G (p.Phe406Val) c.*1218T>G (n.*1218T>G) c.1366T>G (p.Phe456Val) c.1285T>G (p.Phe429Val) | gnomAD v4 |
| 12 | g.47844814A>G | CA384513879 | VDR | c.1216T>C (p.Phe406Leu) c.*1218T>C (n.*1218T>C) c.1366T>C (p.Phe456Leu) c.1285T>C (p.Phe429Leu) | |
| 12 | g.47844814A>T | CA384513880 | VDR | c.1216T>A (p.Phe406Ile) c.*1218T>A (n.*1218T>A) c.1366T>A (p.Phe456Ile) c.1285T>A (p.Phe429Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844815G>A | CA479696465 | VDR | c.1215C>T (p.Ser405=) c.*1217C>T (n.*1217C>T) c.1365C>T (p.Ser455=) c.1284C>T (p.Ser428=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47844815G>C | CA479696466 | VDR | c.1215C>G (p.Ser405=) c.*1217C>G (n.*1217C>G) c.1365C>G (p.Ser455=) c.1284C>G (p.Ser428=) | |
| 12 | g.47844815G= | CA2034408946 | VDR | c.1215C= (p.Ser405=) c.*1217C= (n.*1217C=) c.1365C= (p.Ser455=) c.1284C= (p.Ser428=) | |
| 12 | g.47844815G>T | CA479696467 | VDR | c.1215C>A (p.Ser405=) c.*1217C>A (n.*1217C>A) c.1365C>A (p.Ser455=) c.1284C>A (p.Ser428=) | |
| 12 | g.47844816G>A | CA384513881 | VDR | c.1214C>T (p.Ser405Phe) c.*1216C>T (n.*1216C>T) c.1364C>T (p.Ser455Phe) c.1283C>T (p.Ser428Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844816G>C | CA384513883 | VDR | c.1214C>G (p.Ser405Cys) c.*1216C>G (n.*1216C>G) c.1364C>G (p.Ser455Cys) c.1283C>G (p.Ser428Cys) | |
| 12 | g.47844816G= | CA2034408947 | VDR | c.1214C= (p.Ser405=) c.*1216C= (n.*1216C=) c.1364C= (p.Ser455=) c.1283C= (p.Ser428=) | |
| 12 | g.47844816G>T | CA384513885 | VDR | c.1214C>A (p.Ser405Tyr) c.*1216C>A (n.*1216C>A) c.1364C>A (p.Ser455Tyr) c.1283C>A (p.Ser428Tyr) | |
| 12 | g.47844817A>C | CA384513887 | VDR | c.1213T>G (p.Ser405Ala) c.*1215T>G (n.*1215T>G) c.1363T>G (p.Ser455Ala) c.1282T>G (p.Ser428Ala) | |
| 12 | g.47844817A>G | CA384513891 | VDR | c.1213T>C (p.Ser405Pro) c.*1215T>C (n.*1215T>C) c.1363T>C (p.Ser455Pro) c.1282T>C (p.Ser428Pro) | |
| 12 | g.47844817A>T | CA384513893 | VDR | c.1213T>A (p.Ser405Thr) c.*1215T>A (n.*1215T>A) c.1363T>A (p.Ser455Thr) c.1282T>A (p.Ser428Thr) | |
| 12 | g.47844818G>A | CA479696468 | VDR | c.1212C>T (p.Leu404=) c.*1214C>T (n.*1214C>T) c.1362C>T (p.Leu454=) c.1281C>T (p.Leu427=) | |
| 12 | g.47844818G>C | CA479696469 | VDR | c.1212C>G (p.Leu404=) c.*1214C>G (n.*1214C>G) c.1362C>G (p.Leu454=) c.1281C>G (p.Leu427=) | |
| 12 | g.47844818G>T | CA479696470 | VDR | c.1212C>A (p.Leu404=) c.*1214C>A (n.*1214C>A) c.1362C>A (p.Leu454=) c.1281C>A (p.Leu427=) | gnomAD v4 |
| 12 | g.47844819A>C | CA384513899 | VDR | c.1211T>G (p.Leu404Arg) c.*1213T>G (n.*1213T>G) c.1361T>G (p.Leu454Arg) c.1280T>G (p.Leu427Arg) | |
| 12 | g.47844819A>G | CA384513900 | VDR | c.1211T>C (p.Leu404Pro) c.*1213T>C (n.*1213T>C) c.1361T>C (p.Leu454Pro) c.1280T>C (p.Leu427Pro) | |
| 12 | g.47844819A>T | CA384513897 | VDR | c.1211T>A (p.Leu404His) c.*1213T>A (n.*1213T>A) c.1361T>A (p.Leu454His) c.1280T>A (p.Leu427His) | |
| 12 | g.47844820G>A | CA384513902 | VDR | c.1210C>T (p.Leu404Phe) c.*1212C>T (n.*1212C>T) c.1360C>T (p.Leu454Phe) c.1279C>T (p.Leu427Phe) | |
| 12 | g.47844820G>C | CA384513903 | VDR | c.1210C>G (p.Leu404Val) c.*1212C>G (n.*1212C>G) c.1360C>G (p.Leu454Val) c.1279C>G (p.Leu427Val) | |
| 12 | g.47844820G>T | CA384513905 | VDR | c.1210C>A (p.Leu404Ile) c.*1212C>A (n.*1212C>A) c.1360C>A (p.Leu454Ile) c.1279C>A (p.Leu427Ile) | |
| 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) | |
| 12 | g.47844835T>C | CA384514017 | VDR | c.1195A>G (p.Lys399Glu) c.*1197A>G (n.*1197A>G) c.1345A>G (p.Lys449Glu) c.1264A>G (p.Lys422Glu) | |
| 12 | g.47844835T>G | CA384514020 | VDR | c.1195A>C (p.Lys399Gln) c.*1197A>C (n.*1197A>C) c.1345A>C (p.Lys449Gln) c.1264A>C (p.Lys422Gln) | |
| 12 | g.47844836G>A | CA479696476 | VDR | c.1194C>T (p.Ser398=) c.*1196C>T (n.*1196C>T) c.1344C>T (p.Ser448=) c.1263C>T (p.Ser421=) | gnomAD v4 |
| 12 | g.47844836G>C | CA479696477 | VDR | c.1194C>G (p.Ser398=) c.*1196C>G (n.*1196C>G) c.1344C>G (p.Ser448=) c.1263C>G (p.Ser421=) | |
| 12 | g.47844836G>T | CA479696478 | VDR | c.1194C>A (p.Ser398=) c.*1196C>A (n.*1196C>A) c.1344C>A (p.Ser448=) c.1263C>A (p.Ser421=) | |
| 12 | g.47844837G>A | CA384514027 | VDR | c.1193C>T (p.Ser398Phe) c.*1195C>T (n.*1195C>T) c.1343C>T (p.Ser448Phe) c.1262C>T (p.Ser421Phe) | |
| 12 | g.47844837G>C | CA384514029 | VDR | c.1193C>G (p.Ser398Cys) c.*1195C>G (n.*1195C>G) c.1343C>G (p.Ser448Cys) c.1262C>G (p.Ser421Cys) | |
| 12 | g.47844837G>T | CA384514031 | VDR | c.1193C>A (p.Ser398Tyr) c.*1195C>A (n.*1195C>A) c.1343C>A (p.Ser448Tyr) c.1262C>A (p.Ser421Tyr) | |
| 12 | g.47844838A>C | CA384514043 | VDR | c.1192T>G (p.Ser398Ala) c.*1194T>G (n.*1194T>G) c.1342T>G (p.Ser448Ala) c.1261T>G (p.Ser421Ala) | |
| 12 | g.47844838A>G | CA384514040 | VDR | c.1192T>C (p.Ser398Pro) c.*1194T>C (n.*1194T>C) c.1342T>C (p.Ser448Pro) c.1261T>C (p.Ser421Pro) | |
| 12 | g.47844838A>T | CA384514038 | VDR | c.1192T>A (p.Ser398Thr) c.*1194T>A (n.*1194T>A) c.1342T>A (p.Ser448Thr) c.1261T>A (p.Ser421Thr) | |
| 12 | g.47844839G>A | CA6533728 | VDR | c.1191C>T (p.His397=) c.*1193C>T (n.*1193C>T) c.1341C>T (p.His447=) c.1260C>T (p.His420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844839G>C | CA384514048 | VDR | c.1191C>G (p.His397Gln) c.*1193C>G (n.*1193C>G) c.1341C>G (p.His447Gln) c.1260C>G (p.His420Gln) | gnomAD v4 |
| 12 | g.47844839G= | CA2034408952 | VDR | c.1191C= (p.His397=) c.*1193C= (n.*1193C=) c.1341C= (p.His447=) c.1260C= (p.His420=) | |
| 12 | g.47844839G>T | CA384514050 | VDR | c.1191C>A (p.His397Gln) c.*1193C>A (n.*1193C>A) c.1341C>A (p.His447Gln) c.1260C>A (p.His420Gln) | dbSNP |
| 12 | g.47844840T>A | CA384514052 | VDR | c.1190A>T (p.His397Leu) c.*1192A>T (n.*1192A>T) c.1340A>T (p.His447Leu) c.1259A>T (p.His420Leu) | |
| 12 | g.47844840T>C | CA384514054 | VDR | c.1190A>G (p.His397Arg) c.*1192A>G (n.*1192A>G) c.1340A>G (p.His447Arg) c.1259A>G (p.His420Arg) | |
| 12 | g.47844840T>G | CA10588004 | VDR | c.1190A>C (p.His397Pro) c.*1192A>C (n.*1192A>C) c.1340A>C (p.His447Pro) c.1259A>C (p.His420Pro) | ClinVar dbSNP |
| 12 | g.47844840T= | CA2034408953 | VDR | c.1190A= (p.His397=) c.*1192A= (n.*1192A=) c.1340A= (p.His447=) c.1259A= (p.His420=) | |
| 12 | g.47844841G>A | CA384514069 | VDR | c.1189C>T (p.His397Tyr) c.*1191C>T (n.*1191C>T) c.1339C>T (p.His447Tyr) c.1258C>T (p.His420Tyr) | |
| 12 | g.47844841G>C | CA384514072 | VDR | c.1189C>G (p.His397Asp) c.*1191C>G (n.*1191C>G) c.1339C>G (p.His447Asp) c.1258C>G (p.His420Asp) | |
| 12 | g.47844841G>T | CA384514075 | VDR | c.1189C>A (p.His397Asn) c.*1191C>A (n.*1191C>A) c.1339C>A (p.His447Asn) c.1258C>A (p.His420Asn) | |
| 12 | g.47844842C>A | CA384514077 | VDR | c.1188G>T (p.Glu396Asp) c.*1190G>T (n.*1190G>T) c.1338G>T (p.Glu446Asp) c.1257G>T (p.Glu419Asp) | |
| 12 | g.47844842C>G | CA384514078 | VDR | c.1188G>C (p.Glu396Asp) c.*1190G>C (n.*1190G>C) c.1338G>C (p.Glu446Asp) c.1257G>C (p.Glu419Asp) | |
| 12 | g.47844842C>T | CA479696479 | VDR | c.1188G>A (p.Glu396=) c.*1190G>A (n.*1190G>A) c.1338G>A (p.Glu446=) c.1257G>A (p.Glu419=) | |
| 12 | g.47844843T>A | CA384514080 | VDR | c.1187A>T (p.Glu396Val) c.*1189A>T (n.*1189A>T) c.1337A>T (p.Glu446Val) c.1256A>T (p.Glu419Val) | |
| 12 | g.47844843T>C | CA384514081 | VDR | c.1187A>G (p.Glu396Gly) c.*1189A>G (n.*1189A>G) c.1337A>G (p.Glu446Gly) c.1256A>G (p.Glu419Gly) | |
| 12 | g.47844843T>G | CA384514082 | VDR | c.1187A>C (p.Glu396Ala) c.*1189A>C (n.*1189A>C) c.1337A>C (p.Glu446Ala) c.1256A>C (p.Glu419Ala) | |
| 12 | g.47844844C>A | CA384514084 | VDR | c.1186G>T (p.Glu396Ter) c.*1188G>T (n.*1188G>T) c.1336G>T (p.Glu446Ter) c.1255G>T (p.Glu419Ter) | |
| 12 | g.47844844C>G | CA384514085 | VDR | c.1186G>C (p.Glu396Gln) c.*1188G>C (n.*1188G>C) c.1336G>C (p.Glu446Gln) c.1255G>C (p.Glu419Gln) | |
| 12 | g.47844844C>T | CA384514083 | VDR | c.1186G>A (p.Glu396Lys) c.*1188G>A (n.*1188G>A) c.1336G>A (p.Glu446Lys) c.1255G>A (p.Glu419Lys) | ClinVar gnomAD v4 |
| 12 | g.47844845C>A | CA384514086 | VDR | c.1185G>T (p.Glu395Asp) c.*1187G>T (n.*1187G>T) c.1335G>T (p.Glu445Asp) c.1254G>T (p.Glu418Asp) | |
| 12 | g.47844845C= | CA2034408954 | VDR | c.1185G= (p.Glu395=) c.*1187G= (n.*1187G=) c.1335G= (p.Glu445=) c.1254G= (p.Glu418=) | |
| 12 | g.47844845C>G | CA384514088 | VDR | c.1185G>C (p.Glu395Asp) c.*1187G>C (n.*1187G>C) c.1335G>C (p.Glu445Asp) c.1254G>C (p.Glu418Asp) | |
| 12 | g.47844845C>T | CA6533729 | VDR | c.1185G>A (p.Glu395=) c.*1187G>A (n.*1187G>A) c.1335G>A (p.Glu445=) c.1254G>A (p.Glu418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844846T>A | CA384514090 | VDR | c.1184A>T (p.Glu395Val) c.*1186A>T (n.*1186A>T) c.1334A>T (p.Glu445Val) c.1253A>T (p.Glu418Val) | gnomAD v4 |
| 12 | g.47844846T>C | CA384514092 | VDR | c.1184A>G (p.Glu395Gly) c.*1186A>G (n.*1186A>G) c.1334A>G (p.Glu445Gly) c.1253A>G (p.Glu418Gly) | |
| 12 | g.47844846T>G | CA384514094 | VDR | c.1184A>C (p.Glu395Ala) c.*1186A>C (n.*1186A>C) c.1334A>C (p.Glu445Ala) c.1253A>C (p.Glu418Ala) | |
| 12 | g.47844847C>A | CA384514104 | VDR | c.1183G>T (p.Glu395Ter) c.*1185G>T (n.*1185G>T) c.1333G>T (p.Glu445Ter) c.1252G>T (p.Glu418Ter) | |
| 12 | g.47844847C= | CA2034408955 | VDR | c.1183G= (p.Glu395=) c.*1185G= (n.*1185G=) c.1333G= (p.Glu445=) c.1252G= (p.Glu418=) | |
| 12 | g.47844847C>G | CA384514100 | VDR | c.1183G>C (p.Glu395Gln) c.*1185G>C (n.*1185G>C) c.1333G>C (p.Glu445Gln) c.1252G>C (p.Glu418Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844847C>T | CA384514102 | VDR | c.1183G>A (p.Glu395Lys) c.*1185G>A (n.*1185G>A) c.1333G>A (p.Glu445Lys) c.1252G>A (p.Glu418Lys) | |
| 12 | g.47844848A= | CA2034408956 | VDR | c.1182T= (p.Asn394=) c.*1184T= (n.*1184T=) c.1332T= (p.Asn444=) c.1251T= (p.Asn417=) | |
| 12 | g.47844848A>C | CA384514107 | VDR | c.1182T>G (p.Asn394Lys) c.*1184T>G (n.*1184T>G) c.1332T>G (p.Asn444Lys) c.1251T>G (p.Asn417Lys) | |
| 12 | g.47844848A>G | CA479696480 | VDR | c.1182T>C (p.Asn394=) c.*1184T>C (n.*1184T>C) c.1332T>C (p.Asn444=) c.1251T>C (p.Asn417=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844848A>T | CA384514109 | VDR | c.1182T>A (p.Asn394Lys) c.*1184T>A (n.*1184T>A) c.1332T>A (p.Asn444Lys) c.1251T>A (p.Asn417Lys) | |
| 12 | g.47844849T>A | CA384514113 | VDR | c.1181A>T (p.Asn394Ile) c.*1183A>T (n.*1183A>T) c.1331A>T (p.Asn444Ile) c.1250A>T (p.Asn417Ile) | |
| 12 | g.47844849T>C | CA384514116 | VDR | c.1181A>G (p.Asn394Ser) c.*1183A>G (n.*1183A>G) c.1331A>G (p.Asn444Ser) c.1250A>G (p.Asn417Ser) | dbSNP gnomAD v4 |
| 12 | g.47844849T>G | CA384514119 | VDR | c.1181A>C (p.Asn394Thr) c.*1183A>C (n.*1183A>C) c.1331A>C (p.Asn444Thr) c.1250A>C (p.Asn417Thr) | |
| 12 | g.47844849T= | CA2034408957 | VDR | c.1181A= (p.Asn394=) c.*1183A= (n.*1183A=) c.1331A= (p.Asn444=) c.1250A= (p.Asn417=) | |
| 12 | g.47844850T>A | CA384514121 | VDR | c.1180A>T (p.Asn394Tyr) c.*1182A>T (n.*1182A>T) c.1330A>T (p.Asn444Tyr) c.1249A>T (p.Asn417Tyr) | |
| 12 | g.47844850T>C | CA384514126 | VDR | c.1180A>G (p.Asn394Asp) c.*1182A>G (n.*1182A>G) c.1330A>G (p.Asn444Asp) c.1249A>G (p.Asn417Asp) | |
| 12 | g.47844850T>G | CA384514123 | VDR | c.1180A>C (p.Asn394His) c.*1182A>C (n.*1182A>C) c.1330A>C (p.Asn444His) c.1249A>C (p.Asn417His) | gnomAD v4 |
| 12 | g.47844851G>A | CA479696481 | VDR | c.1179C>T (p.Leu393=) c.*1181C>T (n.*1181C>T) c.1329C>T (p.Leu443=) c.1248C>T (p.Leu416=) | gnomAD v4 |
| 12 | g.47844851G>C | CA479696482 | VDR | c.1179C>G (p.Leu393=) c.*1181C>G (n.*1181C>G) c.1329C>G (p.Leu443=) c.1248C>G (p.Leu416=) | gnomAD v4 |
| 12 | g.47844851G>T | CA479696483 | VDR | c.1179C>A (p.Leu393=) c.*1181C>A (n.*1181C>A) c.1329C>A (p.Leu443=) c.1248C>A (p.Leu416=) | |
| 12 | g.47844852A>C | CA384514128 | VDR | c.1178T>G (p.Leu393Arg) c.*1180T>G (n.*1180T>G) c.1328T>G (p.Leu443Arg) c.1247T>G (p.Leu416Arg) | gnomAD v4 |
| 12 | g.47844852A>G | CA384514131 | VDR | c.1178T>C (p.Leu393Pro) c.*1180T>C (n.*1180T>C) c.1328T>C (p.Leu443Pro) c.1247T>C (p.Leu416Pro) | |
| 12 | g.47844852A>T | CA384514133 | VDR | c.1178T>A (p.Leu393His) c.*1180T>A (n.*1180T>A) c.1328T>A (p.Leu443His) c.1247T>A (p.Leu416His) | |
| 12 | g.47844853G>A | CA384514136 | VDR | c.1177C>T (p.Leu393Phe) c.*1179C>T (n.*1179C>T) c.1327C>T (p.Leu443Phe) c.1246C>T (p.Leu416Phe) | |
| 12 | g.47844853G>C | CA384514139 | VDR | c.1177C>G (p.Leu393Val) c.*1179C>G (n.*1179C>G) c.1327C>G (p.Leu443Val) c.1246C>G (p.Leu416Val) | |
| 12 | g.47844853G>T | CA384514141 | VDR | c.1177C>A (p.Leu393Ile) c.*1179C>A (n.*1179C>A) c.1327C>A (p.Leu443Ile) c.1246C>A (p.Leu416Ile) | |
| 12 | g.47844854G>A | CA479696484 | VDR | c.1176C>T (p.Ser392=) c.*1178C>T (n.*1178C>T) c.1326C>T (p.Ser442=) c.1245C>T (p.Ser415=) | |
| 12 | g.47844854G>C | CA384514144 | VDR | c.1176C>G (p.Ser392Arg) c.*1178C>G (n.*1178C>G) c.1326C>G (p.Ser442Arg) c.1245C>G (p.Ser415Arg) | |
| 12 | g.47844854G>T | CA384514147 | VDR | c.1176C>A (p.Ser392Arg) c.*1178C>A (n.*1178C>A) c.1326C>A (p.Ser442Arg) c.1245C>A (p.Ser415Arg) | |
| 12 | g.47844855C>A | CA384514149 | VDR | c.1175G>T (p.Ser392Ile) c.*1177G>T (n.*1177G>T) c.1325G>T (p.Ser442Ile) c.1244G>T (p.Ser415Ile) | |
| 12 | g.47844855C>G | CA384514151 | VDR | c.1175G>C (p.Ser392Thr) c.*1177G>C (n.*1177G>C) c.1325G>C (p.Ser442Thr) c.1244G>C (p.Ser415Thr) | COSMIC |
| 12 | g.47844855C>T | CA384514153 | VDR | c.1175G>A (p.Ser392Asn) c.*1177G>A (n.*1177G>A) c.1325G>A (p.Ser442Asn) c.1244G>A (p.Ser415Asn) | |
| 12 | g.47844856T>A | CA384514156 | VDR | c.1174A>T (p.Ser392Cys) c.*1176A>T (n.*1176A>T) c.1324A>T (p.Ser442Cys) c.1243A>T (p.Ser415Cys) | |
| 12 | g.47844856T>C | CA384514157 | VDR | c.1174A>G (p.Ser392Gly) c.*1176A>G (n.*1176A>G) c.1324A>G (p.Ser442Gly) c.1243A>G (p.Ser415Gly) | |
| 12 | g.47844856T>G | CA384514155 | VDR | c.1174A>C (p.Ser392Arg) c.*1176A>C (n.*1176A>C) c.1324A>C (p.Ser442Arg) c.1243A>C (p.Ser415Arg) | |
| 12 | g.47844857G>A | CA479696485 | VDR | c.1173C>T (p.Arg391=) c.*1175C>T (n.*1175C>T) c.1323C>T (p.Arg441=) c.1242C>T (p.Arg414=) | ClinVar |
| 12 | g.47844857G>C | CA479696486 | VDR | c.1173C>G (p.Arg391=) c.*1175C>G (n.*1175C>G) c.1323C>G (p.Arg441=) c.1242C>G (p.Arg414=) | |
| 12 | g.47844857G>T | CA479696487 | VDR | c.1173C>A (p.Arg391=) c.*1175C>A (n.*1175C>A) c.1323C>A (p.Arg441=) c.1242C>A (p.Arg414=) | |
| 12 | g.47844858C>A | CA384514160 | VDR | c.1172G>T (p.Arg391Leu) c.*1174G>T (n.*1174G>T) c.1322G>T (p.Arg441Leu) c.1241G>T (p.Arg414Leu) | gnomAD v4 |
| 12 | g.47844858C= | CA2034408958 | VDR | c.1172G= (p.Arg391=) c.*1174G= (n.*1174G=) c.1322G= (p.Arg441=) c.1241G= (p.Arg414=) | |
| 12 | g.47844858C>G | CA384514158 | VDR | c.1172G>C (p.Arg391Pro) c.*1174G>C (n.*1174G>C) c.1322G>C (p.Arg441Pro) c.1241G>C (p.Arg414Pro) | |
| 12 | g.47844858C>T | CA6533730 | VDR | c.1172G>A (p.Arg391His) c.*1174G>A (n.*1174G>A) c.1322G>A (p.Arg441His) c.1241G>A (p.Arg414His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844859G>A | CA119040 | VDR | c.1171C>T (p.Arg391Cys) c.*1173C>T (n.*1173C>T) c.1321C>T (p.Arg441Cys) c.1240C>T (p.Arg414Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47844859G>C | CA384514163 | VDR | c.1171C>G (p.Arg391Gly) c.*1173C>G (n.*1173C>G) c.1321C>G (p.Arg441Gly) c.1240C>G (p.Arg414Gly) | |
| 12 | g.47844859G= | CA2034408959 | VDR | c.1171C= (p.Arg391=) c.*1173C= (n.*1173C=) c.1321C= (p.Arg441=) c.1240C= (p.Arg414=) | |
| 12 | g.47844859G>T | CA10588005 | VDR | c.1171C>A (p.Arg391Ser) c.*1173C>A (n.*1173C>A) c.1321C>A (p.Arg441Ser) c.1240C>A (p.Arg414Ser) | ClinVar dbSNP |
| 12 | g.47844860C>A | CA479696488 | VDR | c.1170G>T (p.Leu390=) c.*1172G>T (n.*1172G>T) c.1320G>T (p.Leu440=) c.1239G>T (p.Leu413=) | |
| 12 | g.47844860C>G | CA479696489 | VDR | c.1170G>C (p.Leu390=) c.*1172G>C (n.*1172G>C) c.1320G>C (p.Leu440=) c.1239G>C (p.Leu413=) | |
| 12 | g.47844860C>T | CA479696490 | VDR | c.1170G>A (p.Leu390=) c.*1172G>A (n.*1172G>A) c.1320G>A (p.Leu440=) c.1239G>A (p.Leu413=) | ClinVar |
| 12 | g.47844861A>C | CA384514165 | VDR | c.1169T>G (p.Leu390Arg) c.*1171T>G (n.*1171T>G) c.1319T>G (p.Leu440Arg) c.1238T>G (p.Leu413Arg) | |
| 12 | g.47844861A>G | CA384514168 | VDR | c.1169T>C (p.Leu390Pro) c.*1171T>C (n.*1171T>C) c.1319T>C (p.Leu440Pro) c.1238T>C (p.Leu413Pro) | |
| 12 | g.47844861A>T | CA384514167 | VDR | c.1169T>A (p.Leu390Gln) c.*1171T>A (n.*1171T>A) c.1319T>A (p.Leu440Gln) c.1238T>A (p.Leu413Gln) | |
| 12 | g.47844862G>A | CA479696491 | VDR | c.1168C>T (p.Leu390=) c.*1170C>T (n.*1170C>T) c.1318C>T (p.Leu440=) c.1237C>T (p.Leu413=) | |
| 12 | g.47844862G>C | CA384514170 | VDR | c.1168C>G (p.Leu390Val) c.*1170C>G (n.*1170C>G) c.1318C>G (p.Leu440Val) c.1237C>G (p.Leu413Val) | |
| 12 | g.47844862G>T | CA384514171 | VDR | c.1168C>A (p.Leu390Met) c.*1170C>A (n.*1170C>A) c.1318C>A (p.Leu440Met) c.1237C>A (p.Leu413Met) | |
| 12 | g.47844863G>A | CA479696492 | VDR | c.1167C>T (p.Asp389=) c.*1169C>T (n.*1169C>T) c.1317C>T (p.Asp439=) c.1236C>T (p.Asp412=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844863G>C | CA384514173 | VDR | c.1167C>G (p.Asp389Glu) c.*1169C>G (n.*1169C>G) c.1317C>G (p.Asp439Glu) c.1236C>G (p.Asp412Glu) | |
| 12 | g.47844863G>T | CA384514175 | VDR | c.1167C>A (p.Asp389Glu) c.*1169C>A (n.*1169C>A) c.1317C>A (p.Asp439Glu) c.1236C>A (p.Asp412Glu) | |
| 12 | g.47844864T>A | CA384514176 | VDR | c.1166A>T (p.Asp389Val) c.*1168A>T (n.*1168A>T) c.1316A>T (p.Asp439Val) c.1235A>T (p.Asp412Val) | |
| 12 | g.47844864T>C | CA384514178 | VDR | c.1166A>G (p.Asp389Gly) c.*1168A>G (n.*1168A>G) c.1316A>G (p.Asp439Gly) c.1235A>G (p.Asp412Gly) | |
| 12 | g.47844864T>G | CA384514180 | VDR | c.1166A>C (p.Asp389Ala) c.*1168A>C (n.*1168A>C) c.1316A>C (p.Asp439Ala) c.1235A>C (p.Asp412Ala) | |
| 12 | g.47844865C>A | CA384514181 | VDR | c.1165G>T (p.Asp389Tyr) c.*1167G>T (n.*1167G>T) c.1315G>T (p.Asp439Tyr) c.1234G>T (p.Asp412Tyr) | |
| 12 | g.47844865C= | CA2034408960 | VDR | c.1165G= (p.Asp389=) c.*1167G= (n.*1167G=) c.1315G= (p.Asp439=) c.1234G= (p.Asp412=) | |
| 12 | g.47844865C>G | CA384514183 | VDR | c.1165G>C (p.Asp389His) c.*1167G>C (n.*1167G>C) c.1315G>C (p.Asp439His) c.1234G>C (p.Asp412His) | |
| 12 | g.47844865C>T | CA6533731 | VDR | c.1165G>A (p.Asp389Asn) c.*1167G>A (n.*1167G>A) c.1315G>A (p.Asp439Asn) c.1234G>A (p.Asp412Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844866G>A | CA6533732 | VDR | c.1164C>T (p.Ala388=) c.*1166C>T (n.*1166C>T) c.1314C>T (p.Ala438=) c.1233C>T (p.Ala411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844866G>C | CA479696493 | VDR | c.1164C>G (p.Ala388=) c.*1166C>G (n.*1166C>G) c.1314C>G (p.Ala438=) c.1233C>G (p.Ala411=) | |
| 12 | g.47844866G= | CA2034408961 | VDR | c.1164C= (p.Ala388=) c.*1166C= (n.*1166C=) c.1314C= (p.Ala438=) c.1233C= (p.Ala411=) | |
| 12 | g.47844866G>T | CA479696494 | VDR | c.1164C>A (p.Ala388=) c.*1166C>A (n.*1166C>A) c.1314C>A (p.Ala438=) c.1233C>A (p.Ala411=) | |
| 12 | g.47844867G>A | CA384514189 | VDR | c.1163C>T (p.Ala388Val) c.*1165C>T (n.*1165C>T) c.1313C>T (p.Ala438Val) c.1232C>T (p.Ala411Val) | gnomAD v4 |
| 12 | g.47844867G>C | CA384514187 | VDR | c.1163C>G (p.Ala388Gly) c.*1165C>G (n.*1165C>G) c.1313C>G (p.Ala438Gly) c.1232C>G (p.Ala411Gly) | dbSNP |
| 12 | g.47844867G= | CA2034408962 | VDR | c.1163C= (p.Ala388=) c.*1165C= (n.*1165C=) c.1313C= (p.Ala438=) c.1232C= (p.Ala411=) | |
| 12 | g.47844867G>T | CA384514186 | VDR | c.1163C>A (p.Ala388Asp) c.*1165C>A (n.*1165C>A) c.1313C>A (p.Ala438Asp) c.1232C>A (p.Ala411Asp) | ClinVar dbSNP |
| 12 | g.47844868C>A | CA384514190 | VDR | c.1162G>T (p.Ala388Ser) c.*1164G>T (n.*1164G>T) c.1312G>T (p.Ala438Ser) c.1231G>T (p.Ala411Ser) | |
| 12 | g.47844868C>G | CA384514191 | VDR | c.1162G>C (p.Ala388Pro) c.*1164G>C (n.*1164G>C) c.1312G>C (p.Ala438Pro) c.1231G>C (p.Ala411Pro) | |
| 12 | g.47844868C>T | CA384514192 | VDR | c.1162G>A (p.Ala388Thr) c.*1164G>A (n.*1164G>A) c.1312G>A (p.Ala438Thr) c.1231G>A (p.Ala411Thr) | |
| 12 | g.47844869T>A | CA479696495 | VDR | c.1161A>T (p.Leu387=) c.*1163A>T (n.*1163A>T) c.1311A>T (p.Leu437=) c.1230A>T (p.Leu410=) | |
| 12 | g.47844869T>C | CA479696496 | VDR | c.1161A>G (p.Leu387=) c.*1163A>G (n.*1163A>G) c.1311A>G (p.Leu437=) c.1230A>G (p.Leu410=) | gnomAD v4 |
| 12 | g.47844869T>G | CA479696497 | VDR | c.1161A>C (p.Leu387=) c.*1163A>C (n.*1163A>C) c.1311A>C (p.Leu437=) c.1230A>C (p.Leu410=) | |
| 12 | g.47844870A= | CA2034408963 | VDR | c.1160T= (p.Leu387=) c.*1162T= (n.*1162T=) c.1310T= (p.Leu437=) c.1229T= (p.Leu410=) | |
| 12 | g.47844870A>C | CA384514194 | VDR | c.1160T>G (p.Leu387Arg) c.*1162T>G (n.*1162T>G) c.1310T>G (p.Leu437Arg) c.1229T>G (p.Leu410Arg) | |
| 12 | g.47844870A>G | CA384514196 | VDR | c.1160T>C (p.Leu387Pro) c.*1162T>C (n.*1162T>C) c.1310T>C (p.Leu437Pro) c.1229T>C (p.Leu410Pro) | dbSNP |
| 12 | g.47844870A>T | CA384514198 | VDR | c.1160T>A (p.Leu387Gln) c.*1162T>A (n.*1162T>A) c.1310T>A (p.Leu437Gln) c.1229T>A (p.Leu410Gln) | |
| 12 | g.47844871G>A | CA479696498 | VDR | c.1159C>T (p.Leu387=) c.*1161C>T (n.*1161C>T) c.1309C>T (p.Leu437=) c.1228C>T (p.Leu410=) | gnomAD v4 |
| 12 | g.47844871G>C | CA384514199 | VDR | c.1159C>G (p.Leu387Val) c.*1161C>G (n.*1161C>G) c.1309C>G (p.Leu437Val) c.1228C>G (p.Leu410Val) | |
| 12 | g.47844871G>T | CA384514200 | VDR | c.1159C>A (p.Leu387Ile) c.*1161C>A (n.*1161C>A) c.1309C>A (p.Leu437Ile) c.1228C>A (p.Leu410Ile) | |
| 12 | g.47844872C>A | CA384514202 | VDR | c.1158G>T (p.Lys386Asn) c.*1160G>T (n.*1160G>T) c.1308G>T (p.Lys436Asn) c.1227G>T (p.Lys409Asn) | |
| 12 | g.47844872C= | CA2034408964 | VDR | c.1158G= (p.Lys386=) c.*1160G= (n.*1160G=) c.1308G= (p.Lys436=) c.1227G= (p.Lys409=) | |
| 12 | g.47844872C>G | CA384514204 | VDR | c.1158G>C (p.Lys386Asn) c.*1160G>C (n.*1160G>C) c.1308G>C (p.Lys436Asn) c.1227G>C (p.Lys409Asn) | |
| 12 | g.47844872C>T | CA236506075 | VDR | c.1158G>A (p.Lys386=) c.*1160G>A (n.*1160G>A) c.1308G>A (p.Lys436=) c.1227G>A (p.Lys409=) | dbSNP gnomAD v4 |
| 12 | g.47844873T>A | CA384514205 | VDR | c.1157A>T (p.Lys386Met) c.*1159A>T (n.*1159A>T) c.1307A>T (p.Lys436Met) c.1226A>T (p.Lys409Met) | |
| 12 | g.47844873T>C | CA236506086 | VDR | c.1157A>G (p.Lys386Arg) c.*1159A>G (n.*1159A>G) c.1307A>G (p.Lys436Arg) c.1226A>G (p.Lys409Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844873T>G | CA384514208 | VDR | c.1157A>C (p.Lys386Thr) c.*1159A>C (n.*1159A>C) c.1307A>C (p.Lys436Thr) c.1226A>C (p.Lys409Thr) | |
| 12 | g.47844873T= | CA2034408965 | VDR | c.1157A= (p.Lys386=) c.*1159A= (n.*1159A=) c.1307A= (p.Lys436=) c.1226A= (p.Lys409=) | |
| 12 | g.47844874T>A | CA384514212 | VDR | c.1156A>T (p.Lys386Ter) c.*1158A>T (n.*1158A>T) c.1306A>T (p.Lys436Ter) c.1225A>T (p.Lys409Ter) | |
| 12 | g.47844874T>C | CA384514211 | VDR | c.1156A>G (p.Lys386Glu) c.*1158A>G (n.*1158A>G) c.1306A>G (p.Lys436Glu) c.1225A>G (p.Lys409Glu) | |
| 12 | g.47844874T>G | CA384514209 | VDR | c.1156A>C (p.Lys386Gln) c.*1158A>C (n.*1158A>C) c.1306A>C (p.Lys436Gln) c.1225A>C (p.Lys409Gln) | |
| 12 | g.47844875C>A | CA384514216 | VDR | c.1155G>T (p.Gln385His) c.*1157G>T (n.*1157G>T) c.1305G>T (p.Gln435His) c.1224G>T (p.Gln408His) | |
| 12 | g.47844875C>G | CA384514214 | VDR | c.1155G>C (p.Gln385His) c.*1157G>C (n.*1157G>C) c.1305G>C (p.Gln435His) c.1224G>C (p.Gln408His) | |
| 12 | g.47844875C>T | CA479696499 | VDR | c.1155G>A (p.Gln385=) c.*1157G>A (n.*1157G>A) c.1305G>A (p.Gln435=) c.1224G>A (p.Gln408=) | dbSNP |
| 12 | g.47844876T>A | CA384514217 | VDR | c.1154A>T (p.Gln385Leu) c.*1156A>T (n.*1156A>T) c.1304A>T (p.Gln435Leu) c.1223A>T (p.Gln408Leu) | |
| 12 | g.47844876T>C | CA384514219 | VDR | c.1154A>G (p.Gln385Arg) c.*1156A>G (n.*1156A>G) c.1304A>G (p.Gln435Arg) c.1223A>G (p.Gln408Arg) | |
| 12 | g.47844876T>G | CA384514220 | VDR | c.1154A>C (p.Gln385Pro) c.*1156A>C (n.*1156A>C) c.1304A>C (p.Gln435Pro) c.1223A>C (p.Gln408Pro) | |
| 12 | g.47844877G>A | CA384514221 | VDR | c.1153C>T (p.Gln385Ter) c.*1155C>T (n.*1155C>T) c.1303C>T (p.Gln435Ter) c.1222C>T (p.Gln408Ter) | |
| 12 | g.47844877G>C | CA384514222 | VDR | c.1153C>G (p.Gln385Glu) c.*1155C>G (n.*1155C>G) c.1303C>G (p.Gln435Glu) c.1222C>G (p.Gln408Glu) | |
| 12 | g.47844877G>T | CA384514224 | VDR | c.1153C>A (p.Gln385Lys) c.*1155C>A (n.*1155C>A) c.1303C>A (p.Gln435Lys) c.1222C>A (p.Gln408Lys) | |
| 12 | g.47844878G>A | CA479696500 | VDR | c.1152C>T (p.Ile384=) c.*1154C>T (n.*1154C>T) c.1302C>T (p.Ile434=) c.1221C>T (p.Ile407=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844878G>C | CA384514226 | VDR | c.1152C>G (p.Ile384Met) c.*1154C>G (n.*1154C>G) c.1302C>G (p.Ile434Met) c.1221C>G (p.Ile407Met) | gnomAD v4 |
| 12 | g.47844878G= | CA2034408966 | VDR | c.1152C= (p.Ile384=) c.*1154C= (n.*1154C=) c.1302C= (p.Ile434=) c.1221C= (p.Ile407=) | |
| 12 | g.47844878G>T | CA6533733 | VDR | c.1152C>A (p.Ile384=) c.*1154C>A (n.*1154C>A) c.1302C>A (p.Ile434=) c.1221C>A (p.Ile407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844879A= | CA2034408967 | VDR | c.1151T= (p.Ile384=) c.*1153T= (n.*1153T=) c.1301T= (p.Ile434=) c.1220T= (p.Ile407=) | |
| 12 | g.47844879A>C | CA384514227 | VDR | c.1151T>G (p.Ile384Ser) c.*1153T>G (n.*1153T>G) c.1301T>G (p.Ile434Ser) c.1220T>G (p.Ile407Ser) | |
| 12 | g.47844879A>G | CA384514228 | VDR | c.1151T>C (p.Ile384Thr) c.*1153T>C (n.*1153T>C) c.1301T>C (p.Ile434Thr) c.1220T>C (p.Ile407Thr) | dbSNP |
| 12 | g.47844879A>T | CA384514230 | VDR | c.1151T>A (p.Ile384Asn) c.*1153T>A (n.*1153T>A) c.1301T>A (p.Ile434Asn) c.1220T>A (p.Ile407Asn) | |
| 12 | g.47844880T>A | CA384514233 | VDR | c.1150A>T (p.Ile384Phe) c.*1152A>T (n.*1152A>T) c.1300A>T (p.Ile434Phe) c.1219A>T (p.Ile407Phe) | |
| 12 | g.47844880T>C | CA384514235 | VDR | c.1150A>G (p.Ile384Val) c.*1152A>G (n.*1152A>G) c.1300A>G (p.Ile434Val) c.1219A>G (p.Ile407Val) | |
| 12 | g.47844880T>G | CA384514232 | VDR | c.1150A>C (p.Ile384Leu) c.*1152A>C (n.*1152A>C) c.1300A>C (p.Ile434Leu) c.1219A>C (p.Ile407Leu) | |
| 12 | g.47844881C>A | CA384514237 | VDR | c.1149G>T (p.Met383Ile) c.*1151G>T (n.*1151G>T) c.1299G>T (p.Met433Ile) c.1218G>T (p.Met406Ile) | |
| 12 | g.47844881C>G | CA384514238 | VDR | c.1149G>C (p.Met383Ile) c.*1151G>C (n.*1151G>C) c.1299G>C (p.Met433Ile) c.1218G>C (p.Met406Ile) | |
| 12 | g.47844881C>T | CA384514240 | VDR | c.1149G>A (p.Met383Ile) c.*1151G>A (n.*1151G>A) c.1299G>A (p.Met433Ile) c.1218G>A (p.Met406Ile) | |
| 12 | g.47844882A>C | CA384514241 | VDR | c.1148T>G (p.Met383Arg) c.*1150T>G (n.*1150T>G) c.1298T>G (p.Met433Arg) c.1217T>G (p.Met406Arg) | |
| 12 | g.47844882A>G | CA384514243 | VDR | c.1148T>C (p.Met383Thr) c.*1150T>C (n.*1150T>C) c.1298T>C (p.Met433Thr) c.1217T>C (p.Met406Thr) | |
| 12 | g.47844882A>T | CA384514244 | VDR | c.1148T>A (p.Met383Lys) c.*1150T>A (n.*1150T>A) c.1298T>A (p.Met433Lys) c.1217T>A (p.Met406Lys) | |
| 12 | g.47844883T>A | CA384514245 | VDR | c.1147A>T (p.Met383Leu) c.*1149A>T (n.*1149A>T) c.1297A>T (p.Met433Leu) c.1216A>T (p.Met406Leu) | |
| 12 | g.47844883T>C | CA384514248 | VDR | c.1147A>G (p.Met383Val) c.*1149A>G (n.*1149A>G) c.1297A>G (p.Met433Val) c.1216A>G (p.Met406Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844883T>G | CA384514247 | VDR | c.1147A>C (p.Met383Leu) c.*1149A>C (n.*1149A>C) c.1297A>C (p.Met433Leu) c.1216A>C (p.Met406Leu) | |
| 12 | g.47844883T= | CA2034408968 | VDR | c.1147A= (p.Met383=) c.*1149A= (n.*1149A=) c.1297A= (p.Met433=) c.1216A= (p.Met406=) | |
| 12 | g.47844884C>A | CA384514249 | VDR | c.1146G>T (p.Lys382Asn) c.*1148G>T (n.*1148G>T) c.1296G>T (p.Lys432Asn) c.1215G>T (p.Lys405Asn) | |
| 12 | g.47844884C>G | CA384514250 | VDR | c.1146G>C (p.Lys382Asn) c.*1148G>C (n.*1148G>C) c.1296G>C (p.Lys432Asn) c.1215G>C (p.Lys405Asn) | |
| 12 | g.47844884C>T | CA479696501 | VDR | c.1146G>A (p.Lys382=) c.*1148G>A (n.*1148G>A) c.1296G>A (p.Lys432=) c.1215G>A (p.Lys405=) | |
| 12 | g.47844885T>A | CA384514251 | VDR | c.1145A>T (p.Lys382Met) c.*1147A>T (n.*1147A>T) c.1295A>T (p.Lys432Met) c.1214A>T (p.Lys405Met) | |
| 12 | g.47844885T>C | CA6533734 | VDR | c.1145A>G (p.Lys382Arg) c.*1147A>G (n.*1147A>G) c.1295A>G (p.Lys432Arg) c.1214A>G (p.Lys405Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844885T>G | CA384514253 | VDR | c.1145A>C (p.Lys382Thr) c.*1147A>C (n.*1147A>C) c.1295A>C (p.Lys432Thr) c.1214A>C (p.Lys405Thr) | |
| 12 | g.47844885T= | CA2034408969 | VDR | c.1145A= (p.Lys382=) c.*1147A= (n.*1147A=) c.1295A= (p.Lys432=) c.1214A= (p.Lys405=) | |
| 12 | g.47844886T>A | CA384514256 | VDR | c.1144A>T (p.Lys382Ter) c.*1146A>T (n.*1146A>T) c.1294A>T (p.Lys432Ter) c.1213A>T (p.Lys405Ter) | |
| 12 | g.47844886T>C | CA384514257 | VDR | c.1144A>G (p.Lys382Glu) c.*1146A>G (n.*1146A>G) c.1294A>G (p.Lys432Glu) c.1213A>G (p.Lys405Glu) | |
| 12 | g.47844886T>G | CA384514254 | VDR | c.1144A>C (p.Lys382Gln) c.*1146A>C (n.*1146A>C) c.1294A>C (p.Lys432Gln) c.1213A>C (p.Lys405Gln) | |
| 12 | g.47844887G>A | CA479696504 | VDR | c.1143C>T (p.Ala381=) c.*1145C>T (n.*1145C>T) c.1293C>T (p.Ala431=) c.1212C>T (p.Ala404=) | |
| 12 | g.47844887G>C | CA479696503 | VDR | c.1143C>G (p.Ala381=) c.*1145C>G (n.*1145C>G) c.1293C>G (p.Ala431=) c.1212C>G (p.Ala404=) | |
| 12 | g.47844887G>T | CA479696502 | VDR | c.1143C>A (p.Ala381=) c.*1145C>A (n.*1145C>A) c.1293C>A (p.Ala431=) c.1212C>A (p.Ala404=) | |
| 12 | g.47844888G>A | CA384514259 | VDR | c.1142C>T (p.Ala381Val) c.*1144C>T (n.*1144C>T) c.1292C>T (p.Ala431Val) c.1211C>T (p.Ala404Val) | |
| 12 | g.47844888G>C | CA384514261 | VDR | c.1142C>G (p.Ala381Gly) c.*1144C>G (n.*1144C>G) c.1292C>G (p.Ala431Gly) c.1211C>G (p.Ala404Gly) | |
| 12 | g.47844888G>T | CA384514263 | VDR | c.1142C>A (p.Ala381Asp) c.*1144C>A (n.*1144C>A) c.1292C>A (p.Ala431Asp) c.1211C>A (p.Ala404Asp) | |
| 12 | g.47844889C>A | CA384514264 | VDR | c.1141G>T (p.Ala381Ser) c.*1143G>T (n.*1143G>T) c.1291G>T (p.Ala431Ser) c.1210G>T (p.Ala404Ser) | |
| 12 | g.47844889C>G | CA384514266 | VDR | c.1141G>C (p.Ala381Pro) c.*1143G>C (n.*1143G>C) c.1291G>C (p.Ala431Pro) c.1210G>C (p.Ala404Pro) | |
| 12 | g.47844889C>T | CA384514268 | VDR | c.1141G>A (p.Ala381Thr) c.*1143G>A (n.*1143G>A) c.1291G>A (p.Ala431Thr) c.1210G>A (p.Ala404Thr) | |
| 12 | g.47844890A>C | CA384514269 | VDR | c.1140T>G (p.Tyr380Ter) c.*1142T>G (n.*1142T>G) c.1290T>G (p.Tyr430Ter) c.1209T>G (p.Tyr403Ter) | |
| 12 | g.47844890A>G | CA479696505 | VDR | c.1140T>C (p.Tyr380=) c.*1142T>C (n.*1142T>C) c.1290T>C (p.Tyr430=) c.1209T>C (p.Tyr403=) | gnomAD v4 |
| 12 | g.47844890A>T | CA384514271 | VDR | c.1140T>A (p.Tyr380Ter) c.*1142T>A (n.*1142T>A) c.1290T>A (p.Tyr430Ter) c.1209T>A (p.Tyr403Ter) | |
| 12 | g.47844891T>A | CA384514272 | VDR | c.1139A>T (p.Tyr380Phe) c.*1141A>T (n.*1141A>T) c.1289A>T (p.Tyr430Phe) c.1208A>T (p.Tyr403Phe) | |
| 12 | g.47844891T>C | CA384514276 | VDR | c.1139A>G (p.Tyr380Cys) c.*1141A>G (n.*1141A>G) c.1289A>G (p.Tyr430Cys) c.1208A>G (p.Tyr403Cys) | |
| 12 | g.47844891T>G | CA384514274 | VDR | c.1139A>C (p.Tyr380Ser) c.*1141A>C (n.*1141A>C) c.1289A>C (p.Tyr430Ser) c.1208A>C (p.Tyr403Ser) | |
| 12 | g.47844892A>C | CA384514278 | VDR | c.1138T>G (p.Tyr380Asp) c.*1140T>G (n.*1140T>G) c.1288T>G (p.Tyr430Asp) c.1207T>G (p.Tyr403Asp) | |
| 12 | g.47844892A>G | CA384514279 | VDR | c.1138T>C (p.Tyr380His) c.*1140T>C (n.*1140T>C) c.1288T>C (p.Tyr430His) c.1207T>C (p.Tyr403His) | |
| 12 | g.47844892A>T | CA384514281 | VDR | c.1138T>A (p.Tyr380Asn) c.*1140T>A (n.*1140T>A) c.1288T>A (p.Tyr430Asn) c.1207T>A (p.Tyr403Asn) | |
| 12 | g.47844893G>A | CA479696506 | VDR | c.1137C>T (p.Leu379=) c.*1139C>T (n.*1139C>T) c.1287C>T (p.Leu429=) c.1206C>T (p.Leu402=) | gnomAD v4 |
| 12 | g.47844893G>C | CA6533735 | VDR | c.1137C>G (p.Leu379=) c.*1139C>G (n.*1139C>G) c.1287C>G (p.Leu429=) c.1206C>G (p.Leu402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844893G= | CA2034408970 | VDR | c.1137C= (p.Leu379=) c.*1139C= (n.*1139C=) c.1287C= (p.Leu429=) c.1206C= (p.Leu402=) | |
| 12 | g.47844893G>T | CA479696507 | VDR | c.1137C>A (p.Leu379=) c.*1139C>A (n.*1139C>A) c.1287C>A (p.Leu429=) c.1206C>A (p.Leu402=) | |
| 12 | g.47844894A>C | CA384514283 | VDR | c.1136T>G (p.Leu379Arg) c.*1138T>G (n.*1138T>G) c.1286T>G (p.Leu429Arg) c.1205T>G (p.Leu402Arg) | |
| 12 | g.47844894A>G | CA384514286 | VDR | c.1136T>C (p.Leu379Pro) c.*1138T>C (n.*1138T>C) c.1286T>C (p.Leu429Pro) c.1205T>C (p.Leu402Pro) | |
| 12 | g.47844894A>T | CA384514285 | VDR | c.1136T>A (p.Leu379His) c.*1138T>A (n.*1138T>A) c.1286T>A (p.Leu429His) c.1205T>A (p.Leu402His) | |
| 12 | g.47844895G>A | CA384514289 | VDR | c.1135C>T (p.Leu379Phe) c.*1137C>T (n.*1137C>T) c.1285C>T (p.Leu429Phe) c.1204C>T (p.Leu402Phe) | COSMIC |
| 12 | g.47844895G>C | CA384514290 | VDR | c.1135C>G (p.Leu379Val) c.*1137C>G (n.*1137C>G) c.1285C>G (p.Leu429Val) c.1204C>G (p.Leu402Val) | |
| 12 | g.47844895G>T | CA384514291 | VDR | c.1135C>A (p.Leu379Ile) c.*1137C>A (n.*1137C>A) c.1285C>A (p.Leu429Ile) c.1204C>A (p.Leu402Ile) | gnomAD v4 |
| 12 | g.47844896C>A | CA6533736 | VDR | c.1134G>T (p.Leu378=) c.*1136G>T (n.*1136G>T) c.1284G>T (p.Leu428=) c.1203G>T (p.Leu401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844896C= | CA2034408971 | VDR | c.1134G= (p.Leu378=) c.*1136G= (n.*1136G=) c.1284G= (p.Leu428=) c.1203G= (p.Leu401=) | |
| 12 | g.47844896C>G | CA479696508 | VDR | c.1134G>C (p.Leu378=) c.*1136G>C (n.*1136G>C) c.1284G>C (p.Leu428=) c.1203G>C (p.Leu401=) | gnomAD v4 |
| 12 | g.47844896C>T | CA479696509 | VDR | c.1134G>A (p.Leu378=) c.*1136G>A (n.*1136G>A) c.1284G>A (p.Leu428=) c.1203G>A (p.Leu401=) | ClinVar |
| 12 | g.47844897A= | CA2034408973 | VDR | c.1133T= (p.Leu378=) c.*1135T= (n.*1135T=) c.1283T= (p.Leu428=) c.1202T= (p.Leu401=) | |
| 12 | g.47844897A>C | CA384514293 | VDR | c.1133T>G (p.Leu378Arg) c.*1135T>G (n.*1135T>G) c.1283T>G (p.Leu428Arg) c.1202T>G (p.Leu401Arg) | |
| 12 | g.47844897A>G | CA384514295 | VDR | c.1133T>C (p.Leu378Pro) c.*1135T>C (n.*1135T>C) c.1283T>C (p.Leu428Pro) c.1202T>C (p.Leu401Pro) | dbSNP gnomAD v2 |
| 12 | g.47844897A>T | CA384514297 | VDR | c.1133T>A (p.Leu378Gln) c.*1135T>A (n.*1135T>A) c.1283T>A (p.Leu428Gln) c.1202T>A (p.Leu401Gln) | |
| 12 | g.47844897_47844900delinsAGGT | CA2034408972 | VDR | c.1130_1133delinsACCT (p.His377=) c.*1132_*1135delinsACCT (n.*1132_*1135delinsACCT) c.1280_1283delinsACCT (p.His427=) c.1199_1202delinsACCT (p.His400=) | |
| 12 | g.47844898G>A | CA479696510 | VDR | c.1132C>T (p.Leu378=) c.*1134C>T (n.*1134C>T) c.1282C>T (p.Leu428=) c.1201C>T (p.Leu401=) | gnomAD v4 |
| 12 | g.47844898G>C | CA384514298 | VDR | c.1132C>G (p.Leu378Val) c.*1134C>G (n.*1134C>G) c.1282C>G (p.Leu428Val) c.1201C>G (p.Leu401Val) | |
| 12 | g.47844898G>T | CA384514300 | VDR | c.1132C>A (p.Leu378Met) c.*1134C>A (n.*1134C>A) c.1282C>A (p.Leu428Met) c.1201C>A (p.Leu401Met) | gnomAD v4 |
| 12 | g.47844900_47844902del | CA689460477 | VDR | c.1130_1132del (p.His377del) c.*1132_*1134del (n.*1132_*1134del) c.1280_1282del (p.His427del) c.1199_1201del (p.His400del) | dbSNP |
| 12 | g.47844899G>A | CA6533737 | VDR | c.1131C>T (p.His377=) c.*1133C>T (n.*1133C>T) c.1281C>T (p.His427=) c.1200C>T (p.His400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844899G>C | CA384514303 | VDR | c.1131C>G (p.His377Gln) c.*1133C>G (n.*1133C>G) c.1281C>G (p.His427Gln) c.1200C>G (p.His400Gln) | |
| 12 | g.47844899G= | CA2034408974 | VDR | c.1131C= (p.His377=) c.*1133C= (n.*1133C=) c.1281C= (p.His427=) c.1200C= (p.His400=) | |
| 12 | g.47844899G>T | CA384514305 | VDR | c.1131C>A (p.His377Gln) c.*1133C>A (n.*1133C>A) c.1281C>A (p.His427Gln) c.1200C>A (p.His400Gln) | |
| 12 | g.47844900T>A | CA384514307 | VDR | c.1130A>T (p.His377Leu) c.*1132A>T (n.*1132A>T) c.1280A>T (p.His427Leu) c.1199A>T (p.His400Leu) | |
| 12 | g.47844900T>C | CA384514310 | VDR | c.1130A>G (p.His377Arg) c.*1132A>G (n.*1132A>G) c.1280A>G (p.His427Arg) c.1199A>G (p.His400Arg) | gnomAD v4 |
| 12 | g.47844900T>G | CA384514308 | VDR | c.1130A>C (p.His377Pro) c.*1132A>C (n.*1132A>C) c.1280A>C (p.His427Pro) c.1199A>C (p.His400Pro) | |
| 12 | g.47844901G>A | CA236506132 | VDR | c.1129C>T (p.His377Tyr) c.*1131C>T (n.*1131C>T) c.1279C>T (p.His427Tyr) c.1198C>T (p.His400Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844901G>C | CA384514313 | VDR | c.1129C>G (p.His377Asp) c.*1131C>G (n.*1131C>G) c.1279C>G (p.His427Asp) c.1198C>G (p.His400Asp) | |
| 12 | g.47844901G= | CA2034408975 | VDR | c.1129C= (p.His377=) c.*1131C= (n.*1131C=) c.1279C= (p.His427=) c.1198C= (p.His400=) | |
| 12 | g.47844901G>T | CA384514315 | VDR | c.1129C>A (p.His377Asn) c.*1131C>A (n.*1131C>A) c.1279C>A (p.His427Asn) c.1198C>A (p.His400Asn) | |
| 12 | g.47844902G>A | CA479696511 | VDR | c.1128C>T (p.Ser376=) c.*1130C>T (n.*1130C>T) c.1278C>T (p.Ser426=) c.1197C>T (p.Ser399=) | ClinVar |
| 12 | g.47844902G>C | CA384514317 | VDR | c.1128C>G (p.Ser376Arg) c.*1130C>G (n.*1130C>G) c.1278C>G (p.Ser426Arg) c.1197C>G (p.Ser399Arg) | |
| 12 | g.47844902G>T | CA384514319 | VDR | c.1128C>A (p.Ser376Arg) c.*1130C>A (n.*1130C>A) c.1278C>A (p.Ser426Arg) c.1197C>A (p.Ser399Arg) | |
| 12 | g.47844903C>A | CA384514321 | VDR | c.1127G>T (p.Ser376Ile) c.*1129G>T (n.*1129G>T) c.1277G>T (p.Ser426Ile) c.1196G>T (p.Ser399Ile) | |
| 12 | g.47844903C>G | CA384514322 | VDR | c.1127G>C (p.Ser376Thr) c.*1129G>C (n.*1129G>C) c.1277G>C (p.Ser426Thr) c.1196G>C (p.Ser399Thr) | |
| 12 | g.47844903C>T | CA384514323 | VDR | c.1127G>A (p.Ser376Asn) c.*1129G>A (n.*1129G>A) c.1277G>A (p.Ser426Asn) c.1196G>A (p.Ser399Asn) | |
| 12 | g.47844904T>A | CA384514325 | VDR | c.1126A>T (p.Ser376Cys) c.*1128A>T (n.*1128A>T) c.1276A>T (p.Ser426Cys) c.1195A>T (p.Ser399Cys) | |
| 12 | g.47844904T>C | CA384514326 | VDR | c.1126A>G (p.Ser376Gly) c.*1128A>G (n.*1128A>G) c.1276A>G (p.Ser426Gly) c.1195A>G (p.Ser399Gly) | gnomAD v4 |
| 12 | g.47844904T>G | CA384514328 | VDR | c.1126A>C (p.Ser376Arg) c.*1128A>C (n.*1128A>C) c.1276A>C (p.Ser426Arg) c.1195A>C (p.Ser399Arg) | |
| 12 | g.47844905G>A | CA479696512 | VDR | c.1125C>T (p.Gly375=) c.*1127C>T (n.*1127C>T) c.1275C>T (p.Gly425=) c.1194C>T (p.Gly398=) | |
| 12 | g.47844905G>C | CA479696513 | VDR | c.1125C>G (p.Gly375=) c.*1127C>G (n.*1127C>G) c.1275C>G (p.Gly425=) c.1194C>G (p.Gly398=) | |
| 12 | g.47844905G= | CA2034408976 | VDR | c.1125C= (p.Gly375=) c.*1127C= (n.*1127C=) c.1275C= (p.Gly425=) c.1194C= (p.Gly398=) | |
| 12 | g.47844905G>T | CA6533738 | VDR | c.1125C>A (p.Gly375=) c.*1127C>A (n.*1127C>A) c.1275C>A (p.Gly425=) c.1194C>A (p.Gly398=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844906C>A | CA384514334 | VDR | c.1124G>T (p.Gly375Val) c.*1126G>T (n.*1126G>T) c.1274G>T (p.Gly425Val) c.1193G>T (p.Gly398Val) | |
| 12 | g.47844906C= | CA2034408977 | VDR | c.1124G= (p.Gly375=) c.*1126G= (n.*1126G=) c.1274G= (p.Gly425=) c.1193G= (p.Gly398=) | |
| 12 | g.47844906C>G | CA384514331 | VDR | c.1124G>C (p.Gly375Ala) c.*1126G>C (n.*1126G>C) c.1274G>C (p.Gly425Ala) c.1193G>C (p.Gly398Ala) | |
| 12 | g.47844906C>T | CA384514333 | VDR | c.1124G>A (p.Gly375Asp) c.*1126G>A (n.*1126G>A) c.1274G>A (p.Gly425Asp) c.1193G>A (p.Gly398Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844907C>A | CA384514336 | VDR | c.1123G>T (p.Gly375Cys) c.*1125G>T (n.*1125G>T) c.1273G>T (p.Gly425Cys) c.1192G>T (p.Gly398Cys) | |
| 12 | g.47844907C>G | CA384514338 | VDR | c.1123G>C (p.Gly375Arg) c.*1125G>C (n.*1125G>C) c.1273G>C (p.Gly425Arg) c.1192G>C (p.Gly398Arg) | |
| 12 | g.47844907C>T | CA384514340 | VDR | c.1123G>A (p.Gly375Ser) c.*1125G>A (n.*1125G>A) c.1273G>A (p.Gly425Ser) c.1192G>A (p.Gly398Ser) | |
| 12 | g.47844908C>A | CA6533740 | VDR | c.1122G>T (p.Pro374=) c.*1124G>T (n.*1124G>T) c.1272G>T (p.Pro424=) c.1191G>T (p.Pro397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844908C= | CA2034408978 | VDR | c.1122G= (p.Pro374=) c.*1124G= (n.*1124G=) c.1272G= (p.Pro424=) c.1191G= (p.Pro397=) | |
| 12 | g.47844908C>G | CA479696514 | VDR | c.1122G>C (p.Pro374=) c.*1124G>C (n.*1124G>C) c.1272G>C (p.Pro424=) c.1191G>C (p.Pro397=) | ClinVar |
| 12 | g.47844908C>T | CA6533739 | VDR | c.1122G>A (p.Pro374=) c.*1124G>A (n.*1124G>A) c.1272G>A (p.Pro424=) c.1191G>A (p.Pro397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |