| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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=) | |
| 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) |