| 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.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 |
| 12 | g.47844909G>A | CA6533741 | VDR | c.1121C>T (p.Pro374Leu) c.*1123C>T (n.*1123C>T) c.1271C>T (p.Pro424Leu) c.1190C>T (p.Pro397Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844909G>C | CA6533742 | VDR | c.1121C>G (p.Pro374Arg) c.*1123C>G (n.*1123C>G) c.1271C>G (p.Pro424Arg) c.1190C>G (p.Pro397Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844909G= | CA2034408979 | VDR | c.1121C= (p.Pro374=) c.*1123C= (n.*1123C=) c.1271C= (p.Pro424=) c.1190C= (p.Pro397=) | |
| 12 | g.47844909G>T | CA384514344 | VDR | c.1121C>A (p.Pro374Gln) c.*1123C>A (n.*1123C>A) c.1271C>A (p.Pro424Gln) c.1190C>A (p.Pro397Gln) | |
| 12 | g.47844913dup | CA2618497441 | VDR | c.1121dup (p.Ser376GlnfsTer20) c.*1123dup (n.*1123dup) c.1271dup (p.Ser426GlnfsTer20) c.1190dup (p.Ser399GlnfsTer20) | gnomAD v4 |
| 12 | g.47844910G>A | CA384514346 | VDR | c.1120C>T (p.Pro374Ser) c.*1122C>T (n.*1122C>T) c.1270C>T (p.Pro424Ser) c.1189C>T (p.Pro397Ser) | |
| 12 | g.47844910G>C | CA384514348 | VDR | c.1120C>G (p.Pro374Ala) c.*1122C>G (n.*1122C>G) c.1270C>G (p.Pro424Ala) c.1189C>G (p.Pro397Ala) | |
| 12 | g.47844910G>T | CA384514350 | VDR | c.1120C>A (p.Pro374Thr) c.*1122C>A (n.*1122C>A) c.1270C>A (p.Pro424Thr) c.1189C>A (p.Pro397Thr) | |
| 12 | g.47844911G>A | CA479696515 | VDR | c.1119C>T (p.Pro373=) c.*1121C>T (n.*1121C>T) c.1269C>T (p.Pro423=) c.1188C>T (p.Pro396=) | COSMIC COSMIC |
| 12 | g.47844911G>C | CA479696516 | VDR | c.1119C>G (p.Pro373=) c.*1121C>G (n.*1121C>G) c.1269C>G (p.Pro423=) c.1188C>G (p.Pro396=) | |
| 12 | g.47844911G>T | CA479696517 | VDR | c.1119C>A (p.Pro373=) c.*1121C>A (n.*1121C>A) c.1269C>A (p.Pro423=) c.1188C>A (p.Pro396=) | |
| 12 | g.47844912G>A | CA384514352 | VDR | c.1118C>T (p.Pro373Leu) c.*1120C>T (n.*1120C>T) c.1268C>T (p.Pro423Leu) c.1187C>T (p.Pro396Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844912G>C | CA384514354 | VDR | c.1118C>G (p.Pro373Arg) c.*1120C>G (n.*1120C>G) c.1268C>G (p.Pro423Arg) c.1187C>G (p.Pro396Arg) | |
| 12 | g.47844912G= | CA2034408980 | VDR | c.1118C= (p.Pro373=) c.*1120C= (n.*1120C=) c.1268C= (p.Pro423=) c.1187C= (p.Pro396=) | |
| 12 | g.47844912G>T | CA236506150 | VDR | c.1118C>A (p.Pro373His) c.*1120C>A (n.*1120C>A) c.1268C>A (p.Pro423His) c.1187C>A (p.Pro396His) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844913G>A | CA384514357 | VDR | c.1117C>T (p.Pro373Ser) c.*1119C>T (n.*1119C>T) c.1267C>T (p.Pro423Ser) c.1186C>T (p.Pro396Ser) | gnomAD v4 |
| 12 | g.47844913G>C | CA384514361 | VDR | c.1117C>G (p.Pro373Ala) c.*1119C>G (n.*1119C>G) c.1267C>G (p.Pro423Ala) c.1186C>G (p.Pro396Ala) | dbSNP |
| 12 | g.47844913G= | CA2034408981 | VDR | c.1117C= (p.Pro373=) c.*1119C= (n.*1119C=) c.1267C= (p.Pro423=) c.1186C= (p.Pro396=) | |
| 12 | g.47844913G>T | CA384514359 | VDR | c.1117C>A (p.Pro373Thr) c.*1119C>A (n.*1119C>A) c.1267C>A (p.Pro423Thr) c.1186C>A (p.Pro396Thr) | |
| 12 | g.47844914C>A | CA479696518 | VDR | c.1116G>T (p.Pro372=) c.*1118G>T (n.*1118G>T) c.1266G>T (p.Pro422=) c.1185G>T (p.Pro395=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844914C= | CA2034408982 | VDR | c.1116G= (p.Pro372=) c.*1118G= (n.*1118G=) c.1266G= (p.Pro422=) c.1185G= (p.Pro395=) | |
| 12 | g.47844914C>G | CA479696519 | VDR | c.1116G>C (p.Pro372=) c.*1118G>C (n.*1118G>C) c.1266G>C (p.Pro422=) c.1185G>C (p.Pro395=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844914C>T | CA236506155 | VDR | c.1116G>A (p.Pro372=) c.*1118G>A (n.*1118G>A) c.1266G>A (p.Pro422=) c.1185G>A (p.Pro395=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47844915G>A | CA6533743 | VDR | c.1115C>T (p.Pro372Leu) c.*1117C>T (n.*1117C>T) c.1265C>T (p.Pro422Leu) c.1184C>T (p.Pro395Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844915G>C | CA384514366 | VDR | c.1115C>G (p.Pro372Arg) c.*1117C>G (n.*1117C>G) c.1265C>G (p.Pro422Arg) c.1184C>G (p.Pro395Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844915G= | CA2034408983 | VDR | c.1115C= (p.Pro372=) c.*1117C= (n.*1117C=) c.1265C= (p.Pro422=) c.1184C= (p.Pro395=) | |
| 12 | g.47844915G>T | CA384514364 | VDR | c.1115C>A (p.Pro372Gln) c.*1117C>A (n.*1117C>A) c.1265C>A (p.Pro422Gln) c.1184C>A (p.Pro395Gln) | |
| 12 | g.47844916G>A | CA384514368 | VDR | c.1114C>T (p.Pro372Ser) c.*1116C>T (n.*1116C>T) c.1264C>T (p.Pro422Ser) c.1183C>T (p.Pro395Ser) | gnomAD v4 |