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.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.47844913dup | CA2618497441 | VDR | c.1121dup (p.Ser376GlnfsTer20) c.*1123dup (n.*1123dup) c.1271dup (p.Ser426GlnfsTer20) c.1190dup (p.Ser399GlnfsTer20) | gnomAD v4 |
| 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 |
| 12 | g.47844916G>C | CA384514369 | VDR | c.1114C>G (p.Pro372Ala) c.*1116C>G (n.*1116C>G) c.1264C>G (p.Pro422Ala) c.1183C>G (p.Pro395Ala) | |
| 12 | g.47844916G>T | CA384514371 | VDR | c.1114C>A (p.Pro372Thr) c.*1116C>A (n.*1116C>A) c.1264C>A (p.Pro422Thr) c.1183C>A (p.Pro395Thr) | |
| 12 | g.47844917G>A | CA6533744 | VDR | c.1113C>T (p.His371=) c.*1115C>T (n.*1115C>T) c.1263C>T (p.His421=) c.1182C>T (p.His394=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844917G>C | CA384514374 | VDR | c.1113C>G (p.His371Gln) c.*1115C>G (n.*1115C>G) c.1263C>G (p.His421Gln) c.1182C>G (p.His394Gln) | |
| 12 | g.47844917G= | CA2034408984 | VDR | c.1113C= (p.His371=) c.*1115C= (n.*1115C=) c.1263C= (p.His421=) c.1182C= (p.His394=) | |
| 12 | g.47844917G>T | CA384514376 | VDR | c.1113C>A (p.His371Gln) c.*1115C>A (n.*1115C>A) c.1263C>A (p.His421Gln) c.1182C>A (p.His394Gln) | |
| 12 | g.47844918T>A | CA384514378 | VDR | c.1112A>T (p.His371Leu) c.*1114A>T (n.*1114A>T) c.1262A>T (p.His421Leu) c.1181A>T (p.His394Leu) | |
| 12 | g.47844918T>C | CA384514380 | VDR | c.1112A>G (p.His371Arg) c.*1114A>G (n.*1114A>G) c.1262A>G (p.His421Arg) c.1181A>G (p.His394Arg) | |
| 12 | g.47844918T>G | CA384514382 | VDR | c.1112A>C (p.His371Pro) c.*1114A>C (n.*1114A>C) c.1262A>C (p.His421Pro) c.1181A>C (p.His394Pro) | |
| 12 | g.47844919G>A | CA384514383 | VDR | c.1111C>T (p.His371Tyr) c.*1113C>T (n.*1113C>T) c.1261C>T (p.His421Tyr) c.1180C>T (p.His394Tyr) | |
| 12 | g.47844919G>C | CA384514384 | VDR | c.1111C>G (p.His371Asp) c.*1113C>G (n.*1113C>G) c.1261C>G (p.His421Asp) c.1180C>G (p.His394Asp) | |
| 12 | g.47844919G>T | CA384514386 | VDR | c.1111C>A (p.His371Asn) c.*1113C>A (n.*1113C>A) c.1261C>A (p.His421Asn) c.1180C>A (p.His394Asn) | |
| 12 | g.47844920G>A | CA479696520 | VDR | c.1110C>T (p.Arg370=) c.*1112C>T (n.*1112C>T) c.1260C>T (p.Arg420=) c.1179C>T (p.Arg393=) | |
| 12 | g.47844920G>C | CA479696521 | VDR | c.1110C>G (p.Arg370=) c.*1112C>G (n.*1112C>G) c.1260C>G (p.Arg420=) c.1179C>G (p.Arg393=) | |
| 12 | g.47844920G>T | CA479696522 | VDR | c.1110C>A (p.Arg370=) c.*1112C>A (n.*1112C>A) c.1260C>A (p.Arg420=) c.1179C>A (p.Arg393=) | |
| 12 | g.47844921C>A | CA384514390 | VDR | c.1109G>T (p.Arg370Leu) c.*1111G>T (n.*1111G>T) c.1259G>T (p.Arg420Leu) c.1178G>T (p.Arg393Leu) | |
| 12 | g.47844921C= | CA2034408985 | VDR | c.1109G= (p.Arg370=) c.*1111G= (n.*1111G=) c.1259G= (p.Arg420=) c.1178G= (p.Arg393=) | |
| 12 | g.47844921C>G | CA384514388 | VDR | c.1109G>C (p.Arg370Pro) c.*1111G>C (n.*1111G>C) c.1259G>C (p.Arg420Pro) c.1178G>C (p.Arg393Pro) | |
| 12 | g.47844921C>T | CA6533745 | VDR | c.1109G>A (p.Arg370His) c.*1111G>A (n.*1111G>A) c.1259G>A (p.Arg420His) c.1178G>A (p.Arg393His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844922G>A | CA6533746 | VDR | c.1108C>T (p.Arg370Cys) c.*1110C>T (n.*1110C>T) c.1258C>T (p.Arg420Cys) c.1177C>T (p.Arg393Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844922G>C | CA6533747 | VDR | c.1108C>G (p.Arg370Gly) c.*1110C>G (n.*1110C>G) c.1258C>G (p.Arg420Gly) c.1177C>G (p.Arg393Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844922G= | CA2034408986 | VDR | c.1108C= (p.Arg370=) c.*1110C= (n.*1110C=) c.1258C= (p.Arg420=) c.1177C= (p.Arg393=) | |
| 12 | g.47844922G>T | CA384514393 | VDR | c.1108C>A (p.Arg370Ser) c.*1110C>A (n.*1110C>A) c.1258C>A (p.Arg420Ser) c.1177C>A (p.Arg393Ser) | |
| 12 | g.47844923G>A | CA479696523 | VDR | c.1107C>T (p.Cys369=) c.*1109C>T (n.*1109C>T) c.1257C>T (p.Cys419=) c.1176C>T (p.Cys392=) | |
| 12 | g.47844923G>C | CA384514395 | VDR | c.1107C>G (p.Cys369Trp) c.*1109C>G (n.*1109C>G) c.1257C>G (p.Cys419Trp) c.1176C>G (p.Cys392Trp) | |
| 12 | g.47844923G>T | CA384514397 | VDR | c.1107C>A (p.Cys369Ter) c.*1109C>A (n.*1109C>A) c.1257C>A (p.Cys419Ter) c.1176C>A (p.Cys392Ter) | |
| 12 | g.47844924C>A | CA384514399 | VDR | c.1106G>T (p.Cys369Phe) c.*1108G>T (n.*1108G>T) c.1256G>T (p.Cys419Phe) c.1175G>T (p.Cys392Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844924C= | CA2034408987 | VDR | c.1106G= (p.Cys369=) c.*1108G= (n.*1108G=) c.1256G= (p.Cys419=) c.1175G= (p.Cys392=) | |
| 12 | g.47844924C>G | CA384514401 | VDR | c.1106G>C (p.Cys369Ser) c.*1108G>C (n.*1108G>C) c.1256G>C (p.Cys419Ser) c.1175G>C (p.Cys392Ser) | |
| 12 | g.47844924C>T | CA384514403 | VDR | c.1106G>A (p.Cys369Tyr) c.*1108G>A (n.*1108G>A) c.1256G>A (p.Cys419Tyr) c.1175G>A (p.Cys392Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844925A= | CA2034408988 | VDR | c.1105T= (p.Cys369=) c.*1107T= (n.*1107T=) c.1255T= (p.Cys419=) c.1174T= (p.Cys392=) | |
| 12 | g.47844925A>C | CA6533748 | VDR | c.1105T>G (p.Cys369Gly) c.*1107T>G (n.*1107T>G) c.1255T>G (p.Cys419Gly) c.1174T>G (p.Cys392Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844925A>G | CA384514405 | VDR | c.1105T>C (p.Cys369Arg) c.*1107T>C (n.*1107T>C) c.1255T>C (p.Cys419Arg) c.1174T>C (p.Cys392Arg) | |
| 12 | g.47844925A>T | CA384514407 | VDR | c.1105T>A (p.Cys369Ser) c.*1107T>A (n.*1107T>A) c.1255T>A (p.Cys419Ser) c.1174T>A (p.Cys392Ser) | |
| 12 | g.47844925_47844926delinsCT | CA2499221643 | VDR | c.1104_1105delinsAG (p.Cys369Gly) c.*1106_*1107delinsAG (n.*1106_*1107delinsAG) c.1254_1255delinsAG (p.Cys419Gly) c.1173_1174delinsAG (p.Cys392Gly) | ClinVar |
| 12 | g.47844926G>A | CA479696524 | VDR | c.1104C>T (p.Arg368=) c.*1106C>T (n.*1106C>T) c.1254C>T (p.Arg418=) c.1173C>T (p.Arg391=) | gnomAD v4 |
| 12 | g.47844926G>C | CA236506187 | VDR | c.1104C>G (p.Arg368=) c.*1106C>G (n.*1106C>G) c.1254C>G (p.Arg418=) c.1173C>G (p.Arg391=) | dbSNP |
| 12 | g.47844926G= | CA2034408989 | VDR | c.1104C= (p.Arg368=) c.*1106C= (n.*1106C=) c.1254C= (p.Arg418=) c.1173C= (p.Arg391=) | |
| 12 | g.47844926G>T | CA6533749 | VDR | c.1104C>A (p.Arg368=) c.*1106C>A (n.*1106C>A) c.1254C>A (p.Arg418=) c.1173C>A (p.Arg391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844927C>A | CA6533750 | VDR | c.1103G>T (p.Arg368Leu) c.*1105G>T (n.*1105G>T) c.1253G>T (p.Arg418Leu) c.1172G>T (p.Arg391Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844927C= | CA2034408990 | VDR | c.1103G= (p.Arg368=) c.*1105G= (n.*1105G=) c.1253G= (p.Arg418=) c.1172G= (p.Arg391=) | |
| 12 | g.47844927C>G | CA384514412 | VDR | c.1103G>C (p.Arg368Pro) c.*1105G>C (n.*1105G>C) c.1253G>C (p.Arg418Pro) c.1172G>C (p.Arg391Pro) | |
| 12 | g.47844927C>T | CA384514414 | VDR | c.1103G>A (p.Arg368His) c.*1105G>A (n.*1105G>A) c.1253G>A (p.Arg418His) c.1172G>A (p.Arg391His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844928G>A | CA6533751 | VDR | c.1102C>T (p.Arg368Cys) c.*1104C>T (n.*1104C>T) c.1252C>T (p.Arg418Cys) c.1171C>T (p.Arg391Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844928G>C | CA236506205 | VDR | c.1102C>G (p.Arg368Gly) c.*1104C>G (n.*1104C>G) c.1252C>G (p.Arg418Gly) c.1171C>G (p.Arg391Gly) | dbSNP gnomAD v4 |
| 12 | g.47844928G= | CA2034408991 | VDR | c.1102C= (p.Arg368=) c.*1104C= (n.*1104C=) c.1252C= (p.Arg418=) c.1171C= (p.Arg391=) | |
| 12 | g.47844928G>T | CA384514418 | VDR | c.1102C>A (p.Arg368Ser) c.*1104C>A (n.*1104C>A) c.1252C>A (p.Arg418Ser) c.1171C>A (p.Arg391Ser) | |
| 12 | g.47844929G>A | CA479696525 | VDR | c.1101C>T (p.Ile367=) c.*1103C>T (n.*1103C>T) c.1251C>T (p.Ile417=) c.1170C>T (p.Ile390=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844929G>C | CA236506215 | VDR | c.1101C>G (p.Ile367Met) c.*1103C>G (n.*1103C>G) c.1251C>G (p.Ile417Met) c.1170C>G (p.Ile390Met) | dbSNP |
| 12 | g.47844929G= | CA2034408992 | VDR | c.1101C= (p.Ile367=) c.*1103C= (n.*1103C=) c.1251C= (p.Ile417=) c.1170C= (p.Ile390=) | |
| 12 | g.47844929G>T | CA479696526 | VDR | c.1101C>A (p.Ile367=) c.*1103C>A (n.*1103C>A) c.1251C>A (p.Ile417=) c.1170C>A (p.Ile390=) | |
| 12 | g.47844930A>C | CA384514421 | VDR | c.1100T>G (p.Ile367Ser) c.*1102T>G (n.*1102T>G) c.1250T>G (p.Ile417Ser) c.1169T>G (p.Ile390Ser) | |
| 12 | g.47844930A>G | CA384514423 | VDR | c.1100T>C (p.Ile367Thr) c.*1102T>C (n.*1102T>C) c.1250T>C (p.Ile417Thr) c.1169T>C (p.Ile390Thr) | |
| 12 | g.47844930A>T | CA384514425 | VDR | c.1100T>A (p.Ile367Asn) c.*1102T>A (n.*1102T>A) c.1250T>A (p.Ile417Asn) c.1169T>A (p.Ile390Asn) | |
| 12 | g.47844931T>A | CA384514427 | VDR | c.1099A>T (p.Ile367Phe) c.*1101A>T (n.*1101A>T) c.1249A>T (p.Ile417Phe) c.1168A>T (p.Ile390Phe) | |
| 12 | g.47844931T>C | CA384514428 | VDR | c.1099A>G (p.Ile367Val) c.*1101A>G (n.*1101A>G) c.1249A>G (p.Ile417Val) c.1168A>G (p.Ile390Val) | |
| 12 | g.47844931T>G | CA384514430 | VDR | c.1099A>C (p.Ile367Leu) c.*1101A>C (n.*1101A>C) c.1249A>C (p.Ile417Leu) c.1168A>C (p.Ile390Leu) | |
| 12 | g.47844932G>A | CA6533752 | VDR | c.1098C>T (p.Tyr366=) c.*1100C>T (n.*1100C>T) c.1248C>T (p.Tyr416=) c.1167C>T (p.Tyr389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844932G>C | CA384514434 | VDR | c.1098C>G (p.Tyr366Ter) c.*1100C>G (n.*1100C>G) c.1248C>G (p.Tyr416Ter) c.1167C>G (p.Tyr389Ter) | |
| 12 | g.47844932G= | CA2034408993 | VDR | c.1098C= (p.Tyr366=) c.*1100C= (n.*1100C=) c.1248C= (p.Tyr416=) c.1167C= (p.Tyr389=) | |
| 12 | g.47844932G>T | CA384514432 | VDR | c.1098C>A (p.Tyr366Ter) c.*1100C>A (n.*1100C>A) c.1248C>A (p.Tyr416Ter) c.1167C>A (p.Tyr389Ter) | |
| 12 | g.47844933T>A | CA384514436 | VDR | c.1097A>T (p.Tyr366Phe) c.*1099A>T (n.*1099A>T) c.1247A>T (p.Tyr416Phe) c.1166A>T (p.Tyr389Phe) | |
| 12 | g.47844933T>C | CA384514438 | VDR | c.1097A>G (p.Tyr366Cys) c.*1099A>G (n.*1099A>G) c.1247A>G (p.Tyr416Cys) c.1166A>G (p.Tyr389Cys) | |
| 12 | g.47844933T>G | CA384514440 | VDR | c.1097A>C (p.Tyr366Ser) c.*1099A>C (n.*1099A>C) c.1247A>C (p.Tyr416Ser) c.1166A>C (p.Tyr389Ser) | |
| 12 | g.47844934A>C | CA384514442 | VDR | c.1096T>G (p.Tyr366Asp) c.*1098T>G (n.*1098T>G) c.1246T>G (p.Tyr416Asp) c.1165T>G (p.Tyr389Asp) | |
| 12 | g.47844934A>G | CA384514444 | VDR | c.1096T>C (p.Tyr366His) c.*1098T>C (n.*1098T>C) c.1246T>C (p.Tyr416His) c.1165T>C (p.Tyr389His) | |
| 12 | g.47844934A>T | CA384514446 | VDR | c.1096T>A (p.Tyr366Asn) c.*1098T>A (n.*1098T>A) c.1246T>A (p.Tyr416Asn) c.1165T>A (p.Tyr389Asn) | |
| 12 | g.47844935C>A | CA479696527 | VDR | c.1095G>T (p.Thr365=) c.*1097G>T (n.*1097G>T) c.1245G>T (p.Thr415=) c.1164G>T (p.Thr388=) | gnomAD v4 |
| 12 | g.47844935C= | CA2034408994 | VDR | c.1095G= (p.Thr365=) c.*1097G= (n.*1097G=) c.1245G= (p.Thr415=) c.1164G= (p.Thr388=) | |
| 12 | g.47844935C>G | CA479696528 | VDR | c.1095G>C (p.Thr365=) c.*1097G>C (n.*1097G>C) c.1245G>C (p.Thr415=) c.1164G>C (p.Thr388=) | |
| 12 | g.47844935C>T | CA6533753 | VDR | c.1095G>A (p.Thr365=) c.*1097G>A (n.*1097G>A) c.1245G>A (p.Thr415=) c.1164G>A (p.Thr388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844936G>A | CA6533754 | VDR | c.1094C>T (p.Thr365Met) c.*1096C>T (n.*1096C>T) c.1244C>T (p.Thr415Met) c.1163C>T (p.Thr388Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.47844936G>C | CA384514450 | VDR | c.1094C>G (p.Thr365Arg) c.*1096C>G (n.*1096C>G) c.1244C>G (p.Thr415Arg) c.1163C>G (p.Thr388Arg) | |
| 12 | g.47844936G= | CA2034408995 | VDR | c.1094C= (p.Thr365=) c.*1096C= (n.*1096C=) c.1244C= (p.Thr415=) c.1163C= (p.Thr388=) | |
| 12 | g.47844936G>T | CA384514451 | VDR | c.1094C>A (p.Thr365Lys) c.*1096C>A (n.*1096C>A) c.1244C>A (p.Thr415Lys) c.1163C>A (p.Thr388Lys) | |
| 12 | g.47844937T>A | CA384514457 | VDR | c.1093A>T (p.Thr365Ser) c.*1095A>T (n.*1095A>T) c.1243A>T (p.Thr415Ser) c.1162A>T (p.Thr388Ser) | |
| 12 | g.47844937T>C | CA384514455 | VDR | c.1093A>G (p.Thr365Ala) c.*1095A>G (n.*1095A>G) c.1243A>G (p.Thr415Ala) c.1162A>G (p.Thr388Ala) | |
| 12 | g.47844937T>G | CA384514453 | VDR | c.1093A>C (p.Thr365Pro) c.*1095A>C (n.*1095A>C) c.1243A>C (p.Thr415Pro) c.1162A>C (p.Thr388Pro) | |
| 12 | g.47844938C>A | CA384514459 | VDR | c.1092G>T (p.Gln364His) c.*1094G>T (n.*1094G>T) c.1242G>T (p.Gln414His) c.1161G>T (p.Gln387His) | |
| 12 | g.47844938C>G | CA384514461 | VDR | c.1092G>C (p.Gln364His) c.*1094G>C (n.*1094G>C) c.1242G>C (p.Gln414His) c.1161G>C (p.Gln387His) | |
| 12 | g.47844938C>T | CA479696529 | VDR | c.1092G>A (p.Gln364=) c.*1094G>A (n.*1094G>A) c.1242G>A (p.Gln414=) c.1161G>A (p.Gln387=) | gnomAD v4 |
| 12 | g.47844939T>A | CA384514463 | VDR | c.1091A>T (p.Gln364Leu) c.*1093A>T (n.*1093A>T) c.1241A>T (p.Gln414Leu) c.1160A>T (p.Gln387Leu) | |
| 12 | g.47844939T>C | CA384514465 | VDR | c.1091A>G (p.Gln364Arg) c.*1093A>G (n.*1093A>G) c.1241A>G (p.Gln414Arg) c.1160A>G (p.Gln387Arg) | gnomAD v4 |
| 12 | g.47844939T>G | CA384514466 | VDR | c.1091A>C (p.Gln364Pro) c.*1093A>C (n.*1093A>C) c.1241A>C (p.Gln414Pro) c.1160A>C (p.Gln387Pro) | |
| 12 | g.47844940G>A | CA6533755 | VDR | c.1090C>T (p.Gln364Ter) c.*1092C>T (n.*1092C>T) c.1240C>T (p.Gln414Ter) c.1159C>T (p.Gln387Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844940G>C | CA384514469 | VDR | c.1090C>G (p.Gln364Glu) c.*1092C>G (n.*1092C>G) c.1240C>G (p.Gln414Glu) c.1159C>G (p.Gln387Glu) | |
| 12 | g.47844940G= | CA2034408996 | VDR | c.1090C= (p.Gln364=) c.*1092C= (n.*1092C=) c.1240C= (p.Gln414=) c.1159C= (p.Gln387=) | |
| 12 | g.47844940G>T | CA384514471 | VDR | c.1090C>A (p.Gln364Lys) c.*1092C>A (n.*1092C>A) c.1240C>A (p.Gln414Lys) c.1159C>A (p.Gln387Lys) | |
| 12 | g.47844941C>A | CA479696530 | VDR | c.1089G>T (p.Leu363=) c.*1091G>T (n.*1091G>T) c.1239G>T (p.Leu413=) c.1158G>T (p.Leu386=) | |
| 12 | g.47844941C>G | CA479696531 | VDR | c.1089G>C (p.Leu363=) c.*1091G>C (n.*1091G>C) c.1239G>C (p.Leu413=) c.1158G>C (p.Leu386=) | |
| 12 | g.47844941C>T | CA479696532 | VDR | c.1089G>A (p.Leu363=) c.*1091G>A (n.*1091G>A) c.1239G>A (p.Leu413=) c.1158G>A (p.Leu386=) | |
| 12 | g.47844942A>C | CA384514473 | VDR | c.1088T>G (p.Leu363Arg) c.*1090T>G (n.*1090T>G) c.1238T>G (p.Leu413Arg) c.1157T>G (p.Leu386Arg) | |
| 12 | g.47844942A>G | CA384514474 | VDR | c.1088T>C (p.Leu363Pro) c.*1090T>C (n.*1090T>C) c.1238T>C (p.Leu413Pro) c.1157T>C (p.Leu386Pro) | ClinVar |
| 12 | g.47844942A>T | CA384514476 | VDR | c.1088T>A (p.Leu363Gln) c.*1090T>A (n.*1090T>A) c.1238T>A (p.Leu413Gln) c.1157T>A (p.Leu386Gln) | |
| 12 | g.47844943G>A | CA479696533 | VDR | c.1087C>T (p.Leu363=) c.*1089C>T (n.*1089C>T) c.1237C>T (p.Leu413=) c.1156C>T (p.Leu386=) | |
| 12 | g.47844943G>C | CA384514477 | VDR | c.1087C>G (p.Leu363Val) c.*1089C>G (n.*1089C>G) c.1237C>G (p.Leu413Val) c.1156C>G (p.Leu386Val) | |
| 12 | g.47844943G= | CA2034408997 | VDR | c.1087C= (p.Leu363=) c.*1089C= (n.*1089C=) c.1237C= (p.Leu413=) c.1156C= (p.Leu386=) | |
| 12 | g.47844943G>T | CA384514479 | VDR | c.1087C>A (p.Leu363Met) c.*1089C>A (n.*1089C>A) c.1237C>A (p.Leu413Met) c.1156C>A (p.Leu386Met) | dbSNP |
| 12 | g.47844944T>A | CA479696534 | VDR | c.1086A>T (p.Thr362=) c.*1088A>T (n.*1088A>T) c.1236A>T (p.Thr412=) c.1155A>T (p.Thr385=) | |
| 12 | g.47844944T>C | CA479696535 | VDR | c.1086A>G (p.Thr362=) c.*1088A>G (n.*1088A>G) c.1236A>G (p.Thr412=) c.1155A>G (p.Thr385=) | |
| 12 | g.47844944T>G | CA479696536 | VDR | c.1086A>C (p.Thr362=) c.*1088A>C (n.*1088A>C) c.1236A>C (p.Thr412=) c.1155A>C (p.Thr385=) | gnomAD v4 |
| 12 | g.47844945G>A | CA6533756 | VDR | c.1085C>T (p.Thr362Ile) c.*1087C>T (n.*1087C>T) c.1235C>T (p.Thr412Ile) c.1154C>T (p.Thr385Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844945G>C | CA384514483 | VDR | c.1085C>G (p.Thr362Arg) c.*1087C>G (n.*1087C>G) c.1235C>G (p.Thr412Arg) c.1154C>G (p.Thr385Arg) | |
| 12 | g.47844945G= | CA2034408998 | VDR | c.1085C= (p.Thr362=) c.*1087C= (n.*1087C=) c.1235C= (p.Thr412=) c.1154C= (p.Thr385=) | |
| 12 | g.47844945G>T | CA384514482 | VDR | c.1085C>A (p.Thr362Lys) c.*1087C>A (n.*1087C>A) c.1235C>A (p.Thr412Lys) c.1154C>A (p.Thr385Lys) | |
| 12 | g.47844946T>A | CA384514485 | VDR | c.1084A>T (p.Thr362Ser) c.*1086A>T (n.*1086A>T) c.1234A>T (p.Thr412Ser) c.1153A>T (p.Thr385Ser) | |
| 12 | g.47844946T>C | CA384514487 | VDR | c.1084A>G (p.Thr362Ala) c.*1086A>G (n.*1086A>G) c.1234A>G (p.Thr412Ala) c.1153A>G (p.Thr385Ala) | |
| 12 | g.47844946T>G | CA384514488 | VDR | c.1084A>C (p.Thr362Pro) c.*1086A>C (n.*1086A>C) c.1234A>C (p.Thr412Pro) c.1153A>C (p.Thr385Pro) | |
| 12 | g.47844947G>A | CA479696537 | VDR | c.1083C>T (p.Asn361=) c.*1085C>T (n.*1085C>T) c.1233C>T (p.Asn411=) c.1152C>T (p.Asn384=) | |
| 12 | g.47844947G>C | CA384514489 | VDR | c.1083C>G (p.Asn361Lys) c.*1085C>G (n.*1085C>G) c.1233C>G (p.Asn411Lys) c.1152C>G (p.Asn384Lys) | |
| 12 | g.47844947G>T | CA384514490 | VDR | c.1083C>A (p.Asn361Lys) c.*1085C>A (n.*1085C>A) c.1233C>A (p.Asn411Lys) c.1152C>A (p.Asn384Lys) | |
| 12 | g.47844948T>A | CA384514493 | VDR | c.1082A>T (p.Asn361Ile) c.*1084A>T (n.*1084A>T) c.1232A>T (p.Asn411Ile) c.1151A>T (p.Asn384Ile) | |
| 12 | g.47844948T>C | CA6533757 | VDR | c.1082A>G (p.Asn361Ser) c.*1084A>G (n.*1084A>G) c.1232A>G (p.Asn411Ser) c.1151A>G (p.Asn384Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844948T>G | CA384514495 | VDR | c.1082A>C (p.Asn361Thr) c.*1084A>C (n.*1084A>C) c.1232A>C (p.Asn411Thr) c.1151A>C (p.Asn384Thr) | |
| 12 | g.47844948T= | CA2034408999 | VDR | c.1082A= (p.Asn361=) c.*1084A= (n.*1084A=) c.1232A= (p.Asn411=) c.1151A= (p.Asn384=) | |
| 12 | g.47844949T>A | CA384514497 | VDR | c.1081A>T (p.Asn361Tyr) c.*1083A>T (n.*1083A>T) c.1231A>T (p.Asn411Tyr) c.1150A>T (p.Asn384Tyr) | |
| 12 | g.47844949T>C | CA384514499 | VDR | c.1081A>G (p.Asn361Asp) c.*1083A>G (n.*1083A>G) c.1231A>G (p.Asn411Asp) c.1150A>G (p.Asn384Asp) | gnomAD v4 |
| 12 | g.47844949T>G | CA384514501 | VDR | c.1081A>C (p.Asn361His) c.*1083A>C (n.*1083A>C) c.1231A>C (p.Asn411His) c.1150A>C (p.Asn384His) | |
| 12 | g.47844950G>A | CA479696538 | VDR | c.1080C>T (p.Ser360=) c.*1082C>T (n.*1082C>T) c.1230C>T (p.Ser410=) c.1149C>T (p.Ser383=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47844950G>C | CA479696539 | VDR | c.1080C>G (p.Ser360=) c.*1082C>G (n.*1082C>G) c.1230C>G (p.Ser410=) c.1149C>G (p.Ser383=) | |
| 12 | g.47844950G= | CA2034409000 | VDR | c.1080C= (p.Ser360=) c.*1082C= (n.*1082C=) c.1230C= (p.Ser410=) c.1149C= (p.Ser383=) | |
| 12 | g.47844950G>T | CA479696540 | VDR | c.1080C>A (p.Ser360=) c.*1082C>A (n.*1082C>A) c.1230C>A (p.Ser410=) c.1149C>A (p.Ser383=) | |
| 12 | g.47844951G>A | CA384514503 | VDR | c.1079C>T (p.Ser360Phe) c.*1081C>T (n.*1081C>T) c.1229C>T (p.Ser410Phe) c.1148C>T (p.Ser383Phe) | |
| 12 | g.47844951G>C | CA384514505 | VDR | c.1079C>G (p.Ser360Cys) c.*1081C>G (n.*1081C>G) c.1229C>G (p.Ser410Cys) c.1148C>G (p.Ser383Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844951G= | CA2034409001 | VDR | c.1079C= (p.Ser360=) c.*1081C= (n.*1081C=) c.1229C= (p.Ser410=) c.1148C= (p.Ser383=) | |
| 12 | g.47844951G>T | CA384514506 | VDR | c.1079C>A (p.Ser360Tyr) c.*1081C>A (n.*1081C>A) c.1229C>A (p.Ser410Tyr) c.1148C>A (p.Ser383Tyr) | |
| 12 | g.47844952A>C | CA384514510 | VDR | c.1078T>G (p.Ser360Ala) c.*1080T>G (n.*1080T>G) c.1228T>G (p.Ser410Ala) c.1147T>G (p.Ser383Ala) | |
| 12 | g.47844952A>G | CA384514512 | VDR | c.1078T>C (p.Ser360Pro) c.*1080T>C (n.*1080T>C) c.1228T>C (p.Ser410Pro) c.1147T>C (p.Ser383Pro) | |
| 12 | g.47844952A>T | CA384514509 | VDR | c.1078T>A (p.Ser360Thr) c.*1080T>A (n.*1080T>A) c.1228T>A (p.Ser410Thr) c.1147T>A (p.Ser383Thr) | |
| 12 | g.47844953C>A | CA479696541 | VDR | c.1077G>T (p.Leu359=) c.*1079G>T (n.*1079G>T) c.1227G>T (p.Leu409=) c.1146G>T (p.Leu382=) | |
| 12 | g.47844953C= | CA2034409002 | VDR | c.1077G= (p.Leu359=) c.*1079G= (n.*1079G=) c.1227G= (p.Leu409=) c.1146G= (p.Leu382=) | |
| 12 | g.47844953C>G | CA479696542 | VDR | c.1077G>C (p.Leu359=) c.*1079G>C (n.*1079G>C) c.1227G>C (p.Leu409=) c.1146G>C (p.Leu382=) | |
| 12 | g.47844953C>T | CA479696543 | VDR | c.1077G>A (p.Leu359=) c.*1079G>A (n.*1079G>A) c.1227G>A (p.Leu409=) c.1146G>A (p.Leu382=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844954A= | CA2034409003 | VDR | c.1076T= (p.Leu359=) c.*1078T= (n.*1078T=) c.1226T= (p.Leu409=) c.1145T= (p.Leu382=) | |
| 12 | g.47844954A>C | CA384514513 | VDR | c.1076T>G (p.Leu359Arg) c.*1078T>G (n.*1078T>G) c.1226T>G (p.Leu409Arg) c.1145T>G (p.Leu382Arg) | |
| 12 | g.47844954A>G | CA384514515 | VDR | c.1076T>C (p.Leu359Pro) c.*1078T>C (n.*1078T>C) c.1226T>C (p.Leu409Pro) c.1145T>C (p.Leu382Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844954A>T | CA384514517 | VDR | c.1076T>A (p.Leu359Gln) c.*1078T>A (n.*1078T>A) c.1226T>A (p.Leu409Gln) c.1145T>A (p.Leu382Gln) | |
| 12 | g.47844955G>A | CA479696544 | VDR | c.1075C>T (p.Leu359=) c.*1077C>T (n.*1077C>T) c.1225C>T (p.Leu409=) c.1144C>T (p.Leu382=) | |
| 12 | g.47844955G>C | CA384514519 | VDR | c.1075C>G (p.Leu359Val) c.*1077C>G (n.*1077C>G) c.1225C>G (p.Leu409Val) c.1144C>G (p.Leu382Val) | |
| 12 | g.47844955G>T | CA384514521 | VDR | c.1075C>A (p.Leu359Met) c.*1077C>A (n.*1077C>A) c.1225C>A (p.Leu409Met) c.1144C>A (p.Leu382Met) | gnomAD v4 |
| 12 | g.47844956G>A | CA479696545 | VDR | c.1074C>T (p.Arg358=) c.*1076C>T (n.*1076C>T) c.1224C>T (p.Arg408=) c.1143C>T (p.Arg381=) | |
| 12 | g.47844956G>C | CA479696546 | VDR | c.1074C>G (p.Arg358=) c.*1076C>G (n.*1076C>G) c.1224C>G (p.Arg408=) c.1143C>G (p.Arg381=) | |
| 12 | g.47844956G>T | CA479696547 | VDR | c.1074C>A (p.Arg358=) c.*1076C>A (n.*1076C>A) c.1224C>A (p.Arg408=) c.1143C>A (p.Arg381=) | |
| 12 | g.47844957C>A | CA236506275 | VDR | c.1073G>T (p.Arg358Leu) c.*1075G>T (n.*1075G>T) c.1223G>T (p.Arg408Leu) c.1142G>T (p.Arg381Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844957C= | CA2034409004 | VDR | c.1073G= (p.Arg358=) c.*1075G= (n.*1075G=) c.1223G= (p.Arg408=) c.1142G= (p.Arg381=) | |
| 12 | g.47844957C>G | CA384514524 | VDR | c.1073G>C (p.Arg358Pro) c.*1075G>C (n.*1075G>C) c.1223G>C (p.Arg408Pro) c.1142G>C (p.Arg381Pro) | gnomAD v4 |
| 12 | g.47844957C>T | CA6533758 | VDR | c.1073G>A (p.Arg358His) c.*1075G>A (n.*1075G>A) c.1223G>A (p.Arg408His) c.1142G>A (p.Arg381His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844958G>A | CA6533759 | VDR | c.1072C>T (p.Arg358Cys) c.*1074C>T (n.*1074C>T) c.1222C>T (p.Arg408Cys) c.1141C>T (p.Arg381Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.47844958G>C | CA384514527 | VDR | c.1072C>G (p.Arg358Gly) c.*1074C>G (n.*1074C>G) c.1222C>G (p.Arg408Gly) c.1141C>G (p.Arg381Gly) | |
| 12 | g.47844958G= | CA2034409005 | VDR | c.1072C= (p.Arg358=) c.*1074C= (n.*1074C=) c.1222C= (p.Arg408=) c.1141C= (p.Arg381=) | |
| 12 | g.47844958G>T | CA384514529 | VDR | c.1072C>A (p.Arg358Ser) c.*1074C>A (n.*1074C>A) c.1222C>A (p.Arg408Ser) c.1141C>A (p.Arg381Ser) | |
| 12 | g.47844959G>A | CA479696548 | VDR | c.1071C>T (p.Asp357=) c.*1073C>T (n.*1073C>T) c.1221C>T (p.Asp407=) c.1140C>T (p.Asp380=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844959G>C | CA384514531 | VDR | c.1071C>G (p.Asp357Glu) c.*1073C>G (n.*1073C>G) c.1221C>G (p.Asp407Glu) c.1140C>G (p.Asp380Glu) | |
| 12 | g.47844959G= | CA2034409006 | VDR | c.1071C= (p.Asp357=) c.*1073C= (n.*1073C=) c.1221C= (p.Asp407=) c.1140C= (p.Asp380=) | |
| 12 | g.47844959G>T | CA384514533 | VDR | c.1071C>A (p.Asp357Glu) c.*1073C>A (n.*1073C>A) c.1221C>A (p.Asp407Glu) c.1140C>A (p.Asp380Glu) | |
| 12 | g.47844960T>A | CA384514535 | VDR | c.1070A>T (p.Asp357Val) c.*1072A>T (n.*1072A>T) c.1220A>T (p.Asp407Val) c.1139A>T (p.Asp380Val) | |
| 12 | g.47844960T>C | CA384514538 | VDR | c.1070A>G (p.Asp357Gly) c.*1072A>G (n.*1072A>G) c.1220A>G (p.Asp407Gly) c.1139A>G (p.Asp380Gly) | |
| 12 | g.47844960T>G | CA384514536 | VDR | c.1070A>C (p.Asp357Ala) c.*1072A>C (n.*1072A>C) c.1220A>C (p.Asp407Ala) c.1139A>C (p.Asp380Ala) | |
| 12 | g.47844961C>A | CA384514540 | VDR | c.1069G>T (p.Asp357Tyr) c.*1071G>T (n.*1071G>T) c.1219G>T (p.Asp407Tyr) c.1138G>T (p.Asp380Tyr) | |
| 12 | g.47844961C>G | CA384514541 | VDR | c.1069G>C (p.Asp357His) c.*1071G>C (n.*1071G>C) c.1219G>C (p.Asp407His) c.1138G>C (p.Asp380His) | dbSNP |
| 12 | g.47844961C>T | CA384514543 | VDR | c.1069G>A (p.Asp357Asn) c.*1071G>A (n.*1071G>A) c.1219G>A (p.Asp407Asn) c.1138G>A (p.Asp380Asn) | |
| 12 | g.47844962C>A | CA384514545 | VDR | c.1068G>T (p.Gln356His) c.*1070G>T (n.*1070G>T) c.1218G>T (p.Gln406His) c.1137G>T (p.Gln379His) | |
| 12 | g.47844962C>G | CA384514547 | VDR | c.1068G>C (p.Gln356His) c.*1070G>C (n.*1070G>C) c.1218G>C (p.Gln406His) c.1137G>C (p.Gln379His) | |
| 12 | g.47844962C>T | CA479696549 | VDR | c.1068G>A (p.Gln356=) c.*1070G>A (n.*1070G>A) c.1218G>A (p.Gln406=) c.1137G>A (p.Gln379=) | |
| 12 | g.47844963T>A | CA384514549 | VDR | c.1067A>T (p.Gln356Leu) c.*1069A>T (n.*1069A>T) c.1217A>T (p.Gln406Leu) c.1136A>T (p.Gln379Leu) | |
| 12 | g.47844963T>C | CA384514551 | VDR | c.1067A>G (p.Gln356Arg) c.*1069A>G (n.*1069A>G) c.1217A>G (p.Gln406Arg) c.1136A>G (p.Gln379Arg) | |
| 12 | g.47844963T>G | CA384514552 | VDR | c.1067A>C (p.Gln356Pro) c.*1069A>C (n.*1069A>C) c.1217A>C (p.Gln406Pro) c.1136A>C (p.Gln379Pro) | |
| 12 | g.47844964G>A | CA384514555 | VDR | c.1066C>T (p.Gln356Ter) c.*1068C>T (n.*1068C>T) c.1216C>T (p.Gln406Ter) c.1135C>T (p.Gln379Ter) | |
| 12 | g.47844964G>C | CA384514557 | VDR | c.1066C>G (p.Gln356Glu) c.*1068C>G (n.*1068C>G) c.1216C>G (p.Gln406Glu) c.1135C>G (p.Gln379Glu) | |
| 12 | g.47844964G>T | CA384514559 | VDR | c.1066C>A (p.Gln356Lys) c.*1068C>A (n.*1068C>A) c.1216C>A (p.Gln406Lys) c.1135C>A (p.Gln379Lys) | |
| 12 | g.47844965G>A | CA236506312 | VDR | c.1065C>T (p.Ile355=) c.*1067C>T (n.*1067C>T) c.1215C>T (p.Ile405=) c.1134C>T (p.Ile378=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47844965G>C | CA384514561 | VDR | c.1065C>G (p.Ile355Met) c.*1067C>G (n.*1067C>G) c.1215C>G (p.Ile405Met) c.1134C>G (p.Ile378Met) | |
| 12 | g.47844965G= | CA2034409007 | VDR | c.1065C= (p.Ile355=) c.*1067C= (n.*1067C=) c.1215C= (p.Ile405=) c.1134C= (p.Ile378=) | |
| 12 | g.47844965G>T | CA479696550 | VDR | c.1065C>A (p.Ile355=) c.*1067C>A (n.*1067C>A) c.1215C>A (p.Ile405=) c.1134C>A (p.Ile378=) | dbSNP |
| 12 | g.47844966A= | CA2034409008 | VDR | c.1064T= (p.Ile355=) c.*1066T= (n.*1066T=) c.1214T= (p.Ile405=) c.1133T= (p.Ile378=) | |
| 12 | g.47844966A>C | CA384514564 | VDR | c.1064T>G (p.Ile355Ser) c.*1066T>G (n.*1066T>G) c.1214T>G (p.Ile405Ser) c.1133T>G (p.Ile378Ser) | |
| 12 | g.47844966A>G | CA6533760 | VDR | c.1064T>C (p.Ile355Thr) c.*1066T>C (n.*1066T>C) c.1214T>C (p.Ile405Thr) c.1133T>C (p.Ile378Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844966A>T | CA384514566 | VDR | c.1064T>A (p.Ile355Asn) c.*1066T>A (n.*1066T>A) c.1214T>A (p.Ile405Asn) c.1133T>A (p.Ile378Asn) | gnomAD v4 |
| 12 | g.47844967T>A | CA384514567 | VDR | c.1063A>T (p.Ile355Phe) c.*1065A>T (n.*1065A>T) c.1213A>T (p.Ile405Phe) c.1132A>T (p.Ile378Phe) | |
| 12 | g.47844967T>C | CA384514571 | VDR | c.1063A>G (p.Ile355Val) c.*1065A>G (n.*1065A>G) c.1213A>G (p.Ile405Val) c.1132A>G (p.Ile378Val) | |
| 12 | g.47844967T>G | CA384514569 | VDR | c.1063A>C (p.Ile355Leu) c.*1065A>C (n.*1065A>C) c.1213A>C (p.Ile405Leu) c.1132A>C (p.Ile378Leu) | |
| 12 | g.47844968G>A | CA479696551 | VDR | c.1062C>T (p.Ala354=) c.*1064C>T (n.*1064C>T) c.1212C>T (p.Ala404=) c.1131C>T (p.Ala377=) | |
| 12 | g.47844968G>C | CA479696552 | VDR | c.1062C>G (p.Ala354=) c.*1064C>G (n.*1064C>G) c.1212C>G (p.Ala404=) c.1131C>G (p.Ala377=) | |
| 12 | g.47844968G>T | CA479696553 | VDR | c.1062C>A (p.Ala354=) c.*1064C>A (n.*1064C>A) c.1212C>A (p.Ala404=) c.1131C>A (p.Ala377=) | |
| 12 | g.47844969G>A | CA6533761 | VDR | c.1061C>T (p.Ala354Val) c.*1063C>T (n.*1063C>T) c.1211C>T (p.Ala404Val) c.1130C>T (p.Ala377Val) | dbSNP ExAC gnomAD v2 |
| 12 | g.47844969G>C | CA384514576 | VDR | c.1061C>G (p.Ala354Gly) c.*1063C>G (n.*1063C>G) c.1211C>G (p.Ala404Gly) c.1130C>G (p.Ala377Gly) | |
| 12 | g.47844969G= | CA2034409009 | VDR | c.1061C= (p.Ala354=) c.*1063C= (n.*1063C=) c.1211C= (p.Ala404=) c.1130C= (p.Ala377=) | |
| 12 | g.47844969G>T | CA384514574 | VDR | c.1061C>A (p.Ala354Asp) c.*1063C>A (n.*1063C>A) c.1211C>A (p.Ala404Asp) c.1130C>A (p.Ala377Asp) | |
| 12 | g.47844970C>A | CA384514578 | VDR | c.1060G>T (p.Ala354Ser) c.*1062G>T (n.*1062G>T) c.1210G>T (p.Ala404Ser) c.1129G>T (p.Ala377Ser) | |
| 12 | g.47844970C= | CA2034409010 | VDR | c.1060G= (p.Ala354=) c.*1062G= (n.*1062G=) c.1210G= (p.Ala404=) c.1129G= (p.Ala377=) | |
| 12 | g.47844970C>G | CA384514580 | VDR | c.1060G>C (p.Ala354Pro) c.*1062G>C (n.*1062G>C) c.1210G>C (p.Ala404Pro) c.1129G>C (p.Ala377Pro) | |
| 12 | g.47844970C>T | CA6533762 | VDR | c.1060G>A (p.Ala354Thr) c.*1062G>A (n.*1062G>A) c.1210G>A (p.Ala404Thr) c.1129G>A (p.Ala377Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844971C>A | CA384514586 | VDR | c.1059G>T (p.Glu353Asp) c.*1061G>T (n.*1061G>T) c.1209G>T (p.Glu403Asp) c.1128G>T (p.Glu376Asp) | |
| 12 | g.47844971C= | CA2034409011 | VDR | c.1059G= (p.Glu353=) c.*1061G= (n.*1061G=) c.1209G= (p.Glu403=) c.1128G= (p.Glu376=) | |
| 12 | g.47844971C>G | CA384514587 | VDR | c.1059G>C (p.Glu353Asp) c.*1061G>C (n.*1061G>C) c.1209G>C (p.Glu403Asp) c.1128G>C (p.Glu376Asp) | |
| 12 | g.47844971C>T | CA479696555 | VDR | c.1059G>A (p.Glu353=) c.*1061G>A (n.*1061G>A) c.1209G>A (p.Glu403=) c.1128G>A (p.Glu376=) | ClinVar dbSNP |
| 12 | g.47844972T>A | CA236506355 | VDR | c.1058A>T (p.Glu353Val) c.*1060A>T (n.*1060A>T) c.1208A>T (p.Glu403Val) c.1127A>T (p.Glu376Val) | dbSNP COSMIC |
| 12 | g.47844972T>C | CA384514589 | VDR | c.1058A>G (p.Glu353Gly) c.*1060A>G (n.*1060A>G) c.1208A>G (p.Glu403Gly) c.1127A>G (p.Glu376Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844972T>G | CA384514590 | VDR | c.1058A>C (p.Glu353Ala) c.*1060A>C (n.*1060A>C) c.1208A>C (p.Glu403Ala) c.1127A>C (p.Glu376Ala) | |
| 12 | g.47844972T= | CA2034409012 | VDR | c.1058A= (p.Glu353=) c.*1060A= (n.*1060A=) c.1208A= (p.Glu403=) c.1127A= (p.Glu376=) | |
| 12 | g.47844973C>A | CA384514591 | VDR | c.1057G>T (p.Glu353Ter) c.*1059G>T (n.*1059G>T) c.1207G>T (p.Glu403Ter) c.1126G>T (p.Glu376Ter) | |
| 12 | g.47844973C= | CA2034409013 | VDR | c.1057G= (p.Glu353=) c.*1059G= (n.*1059G=) c.1207G= (p.Glu403=) c.1126G= (p.Glu376=) | |
| 12 | g.47844973C>G | CA384514592 | VDR | c.1057G>C (p.Glu353Gln) c.*1059G>C (n.*1059G>C) c.1207G>C (p.Glu403Gln) c.1126G>C (p.Glu376Gln) | |
| 12 | g.47844973C>T | CA6533763 | VDR | c.1057G>A (p.Glu353Lys) c.*1059G>A (n.*1059G>A) c.1207G>A (p.Glu403Lys) c.1126G>A (p.Glu376Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844974A= | CA1630855598 | VDR | c.1056T= (p.Ile352=) c.*1058T= (n.*1058T=) c.1206T= (p.Ile402=) c.1125T= (p.Ile375=) | |
| 12 | g.47844974A>C | CA384514593 | VDR | c.1056T>G (p.Ile352Met) c.*1058T>G (n.*1058T>G) c.1206T>G (p.Ile402Met) c.1125T>G (p.Ile375Met) | |
| 12 | g.47844974A>G | CA6533764 | VDR | c.1056T>C (p.Ile352=) c.*1058T>C (n.*1058T>C) c.1206T>C (p.Ile402=) c.1125T>C (p.Ile375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844974A>T | CA479696557 | VDR | c.1056T>A (p.Ile352=) c.*1058T>A (n.*1058T>A) c.1206T>A (p.Ile402=) c.1125T>A (p.Ile375=) | dbSNP gnomAD v4 |
| 12 | g.47844975A= | CA2034409014 | VDR | c.1055T= (p.Ile352=) c.*1057T= (n.*1057T=) c.1205T= (p.Ile402=) c.1124T= (p.Ile375=) | |
| 12 | g.47844975A>C | CA384514594 | VDR | c.1055T>G (p.Ile352Ser) c.*1057T>G (n.*1057T>G) c.1205T>G (p.Ile402Ser) c.1124T>G (p.Ile375Ser) | |
| 12 | g.47844975A>G | CA6533765 | VDR | c.1055T>C (p.Ile352Thr) c.*1057T>C (n.*1057T>C) c.1205T>C (p.Ile402Thr) c.1124T>C (p.Ile375Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844975A>T | CA384514595 | VDR | c.1055T>A (p.Ile352Asn) c.*1057T>A (n.*1057T>A) c.1205T>A (p.Ile402Asn) c.1124T>A (p.Ile375Asn) | |
| 12 | g.47844976T>A | CA384514596 | VDR | c.1054A>T (p.Ile352Phe) c.*1056A>T (n.*1056A>T) c.1204A>T (p.Ile402Phe) c.1123A>T (p.Ile375Phe) | |
| 12 | g.47844976T>C | CA384514597 | VDR | c.1054A>G (p.Ile352Val) c.*1056A>G (n.*1056A>G) c.1204A>G (p.Ile402Val) c.1123A>G (p.Ile375Val) | |
| 12 | g.47844976T>G | CA384514598 | VDR | c.1054A>C (p.Ile352Leu) c.*1056A>C (n.*1056A>C) c.1204A>C (p.Ile402Leu) c.1123A>C (p.Ile375Leu) | gnomAD v4 |
| 12 | g.47844977C>A | CA479696558 | VDR | c.1053G>T (p.Leu351=) c.*1055G>T (n.*1055G>T) c.1203G>T (p.Leu401=) c.1122G>T (p.Leu374=) | |
| 12 | g.47844977C= | CA2034409015 | VDR | c.1053G= (p.Leu351=) c.*1055G= (n.*1055G=) c.1203G= (p.Leu401=) c.1122G= (p.Leu374=) | |
| 12 | g.47844977C>G | CA6533766 | VDR | c.1053G>C (p.Leu351=) c.*1055G>C (n.*1055G>C) c.1203G>C (p.Leu401=) c.1122G>C (p.Leu374=) | dbSNP ExAC gnomAD v2 |
| 12 | g.47844977C>T | CA479696559 | VDR | c.1053G>A (p.Leu351=) c.*1055G>A (n.*1055G>A) c.1203G>A (p.Leu401=) c.1122G>A (p.Leu374=) | |
| 12 | g.47844978A= | CA2034409016 | VDR | c.1052T= (p.Leu351=) c.*1054T= (n.*1054T=) c.1202T= (p.Leu401=) c.1121T= (p.Leu374=) | |
| 12 | g.47844978A>C | CA384514599 | VDR | c.1052T>G (p.Leu351Arg) c.*1054T>G (n.*1054T>G) c.1202T>G (p.Leu401Arg) c.1121T>G (p.Leu374Arg) | |
| 12 | g.47844978A>G | CA384514600 | VDR | c.1052T>C (p.Leu351Pro) c.*1054T>C (n.*1054T>C) c.1202T>C (p.Leu401Pro) c.1121T>C (p.Leu374Pro) | |
| 12 | g.47844978A>T | CA384514601 | VDR | c.1052T>A (p.Leu351Gln) c.*1054T>A (n.*1054T>A) c.1202T>A (p.Leu401Gln) c.1121T>A (p.Leu374Gln) | |
| 12 | g.47844979G>A | CA479696561 | VDR | c.1051C>T (p.Leu351=) c.*1053C>T (n.*1053C>T) c.1201C>T (p.Leu401=) c.1120C>T (p.Leu374=) | |
| 12 | g.47844979G>C | CA384514602 | VDR | c.1051C>G (p.Leu351Val) c.*1053C>G (n.*1053C>G) c.1201C>G (p.Leu401Val) c.1120C>G (p.Leu374Val) | |
| 12 | g.47844979G>T | CA384514603 | VDR | c.1051C>A (p.Leu351Met) c.*1053C>A (n.*1053C>A) c.1201C>A (p.Leu401Met) c.1120C>A (p.Leu374Met) | gnomAD v4 |
| 12 | g.47844982_47844983dup | CA947336708 | VDR | c.1050_1051dup (p.Leu351ArgfsTer2) c.*1052_*1053dup (n.*1052_*1053dup) c.1200_1201dup (p.Leu401ArgfsTer2) c.1119_1120dup (p.Leu374ArgfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844980C>A | CA479696562 | VDR | c.1050G>T (p.Ala350=) c.*1052G>T (n.*1052G>T) c.1200G>T (p.Ala400=) c.1119G>T (p.Ala373=) | |
| 12 | g.47844980C= | CA2034409017 | VDR | c.1050G= (p.Ala350=) c.*1052G= (n.*1052G=) c.1200G= (p.Ala400=) c.1119G= (p.Ala373=) | |
| 12 | g.47844980C>G | CA479696563 | VDR | c.1050G>C (p.Ala350=) c.*1052G>C (n.*1052G>C) c.1200G>C (p.Ala400=) c.1119G>C (p.Ala373=) | |
| 12 | g.47844980C>T | CA6533767 | VDR | c.1050G>A (p.Ala350=) c.*1052G>A (n.*1052G>A) c.1200G>A (p.Ala400=) c.1119G>A (p.Ala373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.47844981G>A | CA6533768 | VDR | c.1049C>T (p.Ala350Val) c.*1051C>T (n.*1051C>T) c.1199C>T (p.Ala400Val) c.1118C>T (p.Ala373Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47844981G>C | CA384514604 | VDR | c.1049C>G (p.Ala350Gly) c.*1051C>G (n.*1051C>G) c.1199C>G (p.Ala400Gly) c.1118C>G (p.Ala373Gly) | |
| 12 | g.47844981G= | CA2034409018 | VDR | c.1049C= (p.Ala350=) c.*1051C= (n.*1051C=) c.1199C= (p.Ala400=) c.1118C= (p.Ala373=) | |
| 12 | g.47844981G>T | CA384514605 | VDR | c.1049C>A (p.Ala350Glu) c.*1051C>A (n.*1051C>A) c.1199C>A (p.Ala400Glu) c.1118C>A (p.Ala373Glu) | |
| 12 | g.47844982C>A | CA384514606 | VDR | c.1048G>T (p.Ala350Ser) c.*1050G>T (n.*1050G>T) c.1198G>T (p.Ala400Ser) c.1117G>T (p.Ala373Ser) | gnomAD v4 |
| 12 | g.47844982C= | CA2034409019 | VDR | c.1048G= (p.Ala350=) c.*1050G= (n.*1050G=) c.1198G= (p.Ala400=) c.1117G= (p.Ala373=) | |
| 12 | g.47844982C>G | CA236506408 | VDR | c.1048G>C (p.Ala350Pro) c.*1050G>C (n.*1050G>C) c.1198G>C (p.Ala400Pro) c.1117G>C (p.Ala373Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844982C>T | CA6533769 | VDR | c.1048G>A (p.Ala350Thr) c.*1050G>A (n.*1050G>A) c.1198G>A (p.Ala400Thr) c.1117G>A (p.Ala373Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844983G>A | CA236506428 | VDR | c.1047C>T (p.Ala349=) c.*1049C>T (n.*1049C>T) c.1197C>T (p.Ala399=) c.1116C>T (p.Ala372=) | dbSNP gnomAD v4 |
| 12 | g.47844983G>C | CA479696567 | VDR | c.1047C>G (p.Ala349=) c.*1049C>G (n.*1049C>G) c.1197C>G (p.Ala399=) c.1116C>G (p.Ala372=) | gnomAD v4 |
| 12 | g.47844983G= | CA2034409020 | VDR | c.1047C= (p.Ala349=) c.*1049C= (n.*1049C=) c.1197C= (p.Ala399=) c.1116C= (p.Ala372=) | |
| 12 | g.47844983G>T | CA479696568 | VDR | c.1047C>A (p.Ala349=) c.*1049C>A (n.*1049C>A) c.1197C>A (p.Ala399=) c.1116C>A (p.Ala372=) | |
| 12 | g.47844984G>A | CA384514607 | VDR | c.1046C>T (p.Ala349Val) c.*1048C>T (n.*1048C>T) c.1196C>T (p.Ala399Val) c.1115C>T (p.Ala372Val) | |
| 12 | g.47844984G>C | CA384514608 | VDR | c.1046C>G (p.Ala349Gly) c.*1048C>G (n.*1048C>G) c.1196C>G (p.Ala399Gly) c.1115C>G (p.Ala372Gly) | |
| 12 | g.47844984G>T | CA384514609 | VDR | c.1046C>A (p.Ala349Asp) c.*1048C>A (n.*1048C>A) c.1196C>A (p.Ala399Asp) c.1115C>A (p.Ala372Asp) | |
| 12 | g.47844985C>A | CA384514610 | VDR | c.1045G>T (p.Ala349Ser) c.*1047G>T (n.*1047G>T) c.1195G>T (p.Ala399Ser) c.1114G>T (p.Ala372Ser) | |
| 12 | g.47844985C= | CA2034409021 | VDR | c.1045G= (p.Ala349=) c.*1047G= (n.*1047G=) c.1195G= (p.Ala399=) c.1114G= (p.Ala372=) | |
| 12 | g.47844985C>G | CA384514611 | VDR | c.1045G>C (p.Ala349Pro) c.*1047G>C (n.*1047G>C) c.1195G>C (p.Ala399Pro) c.1114G>C (p.Ala372Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844985C>T | CA6533770 | VDR | c.1045G>A (p.Ala349Thr) c.*1047G>A (n.*1047G>A) c.1195G>A (p.Ala399Thr) c.1114G>A (p.Ala372Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844986G>A | CA479696569 | VDR | c.1044C>T (p.Asp348=) c.*1046C>T (n.*1046C>T) c.1194C>T (p.Asp398=) c.1113C>T (p.Asp371=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844986G>C | CA384514612 | VDR | c.1044C>G (p.Asp348Glu) c.*1046C>G (n.*1046C>G) c.1194C>G (p.Asp398Glu) c.1113C>G (p.Asp371Glu) | |
| 12 | g.47844986G= | CA2034409022 | VDR | c.1044C= (p.Asp348=) c.*1046C= (n.*1046C=) c.1194C= (p.Asp398=) c.1113C= (p.Asp371=) | |
| 12 | g.47844986G>T | CA384514613 | VDR | c.1044C>A (p.Asp348Glu) c.*1046C>A (n.*1046C>A) c.1194C>A (p.Asp398Glu) c.1113C>A (p.Asp371Glu) | gnomAD v4 |
| 12 | g.47844987T>A | CA384514614 | VDR | c.1043A>T (p.Asp348Val) c.*1045A>T (n.*1045A>T) c.1193A>T (p.Asp398Val) c.1112A>T (p.Asp371Val) | |
| 12 | g.47844987T>C | CA384514616 | VDR | c.1043A>G (p.Asp348Gly) c.*1045A>G (n.*1045A>G) c.1193A>G (p.Asp398Gly) c.1112A>G (p.Asp371Gly) | |
| 12 | g.47844987T>G | CA384514615 | VDR | c.1043A>C (p.Asp348Ala) c.*1045A>C (n.*1045A>C) c.1193A>C (p.Asp398Ala) c.1112A>C (p.Asp371Ala) | |
| 12 | g.47844988C>A | CA384514617 | VDR | c.1042G>T (p.Asp348Tyr) c.*1044G>T (n.*1044G>T) c.1192G>T (p.Asp398Tyr) c.1111G>T (p.Asp371Tyr) | |
| 12 | g.47844988C>G | CA384514618 | VDR | c.1042G>C (p.Asp348His) c.*1044G>C (n.*1044G>C) c.1192G>C (p.Asp398His) c.1111G>C (p.Asp371His) | |
| 12 | g.47844988C>T | CA384514619 | VDR | c.1042G>A (p.Asp348Asn) c.*1044G>A (n.*1044G>A) c.1192G>A (p.Asp398Asn) c.1111G>A (p.Asp371Asn) | |
| 12 | g.47844989C>A | CA384514620 | VDR | c.1041G>T (p.Gln347His) c.*1043G>T (n.*1043G>T) c.1191G>T (p.Gln397His) c.1110G>T (p.Gln370His) | |
| 12 | g.47844989C>G | CA384514621 | VDR | c.1041G>C (p.Gln347His) c.*1043G>C (n.*1043G>C) c.1191G>C (p.Gln397His) c.1110G>C (p.Gln370His) | |
| 12 | g.47844989C>T | CA479696571 | VDR | c.1041G>A (p.Gln347=) c.*1043G>A (n.*1043G>A) c.1191G>A (p.Gln397=) c.1110G>A (p.Gln370=) | |
| 12 | g.47844990T>A | CA384514622 | VDR | c.1040A>T (p.Gln347Leu) c.*1042A>T (n.*1042A>T) c.1190A>T (p.Gln397Leu) c.1109A>T (p.Gln370Leu) | |
| 12 | g.47844990T>C | CA384514623 | VDR | c.1040A>G (p.Gln347Arg) c.*1042A>G (n.*1042A>G) c.1190A>G (p.Gln397Arg) c.1109A>G (p.Gln370Arg) | |
| 12 | g.47844990T>G | CA384514624 | VDR | c.1040A>C (p.Gln347Pro) c.*1042A>C (n.*1042A>C) c.1190A>C (p.Gln397Pro) c.1109A>C (p.Gln370Pro) | |
| 12 | g.47844991G>A | CA384514625 | VDR | c.1039C>T (p.Gln347Ter) c.*1041C>T (n.*1041C>T) c.1189C>T (p.Gln397Ter) c.1108C>T (p.Gln370Ter) | ClinVar gnomAD v4 |
| 12 | g.47844991G>C | CA384514626 | VDR | c.1039C>G (p.Gln347Glu) c.*1041C>G (n.*1041C>G) c.1189C>G (p.Gln397Glu) c.1108C>G (p.Gln370Glu) | |
| 12 | g.47844991G>T | CA384514627 | VDR | c.1039C>A (p.Gln347Lys) c.*1041C>A (n.*1041C>A) c.1189C>A (p.Gln397Lys) c.1108C>A (p.Gln370Lys) | gnomAD v4 |
| 12 | g.47844992C>A | CA479696577 | VDR | c.1038G>T (p.Val346=) c.*1040G>T (n.*1040G>T) c.1188G>T (p.Val396=) c.1107G>T (p.Val369=) | dbSNP |
| 12 | g.47844992C= | CA2034409023 | VDR | c.1038G= (p.Val346=) c.*1040G= (n.*1040G=) c.1188G= (p.Val396=) c.1107G= (p.Val369=) | |
| 12 | g.47844992C>G | CA479696575 | VDR | c.1038G>C (p.Val346=) c.*1040G>C (n.*1040G>C) c.1188G>C (p.Val396=) c.1107G>C (p.Val369=) | |
| 12 | g.47844992C>T | CA479696576 | VDR | c.1038G>A (p.Val346=) c.*1040G>A (n.*1040G>A) c.1188G>A (p.Val396=) c.1107G>A (p.Val369=) | dbSNP gnomAD v2 |
| 12 | g.47844993A>C | CA384514629 | VDR | c.1037T>G (p.Val346Gly) c.*1039T>G (n.*1039T>G) c.1187T>G (p.Val396Gly) c.1106T>G (p.Val369Gly) | gnomAD v4 |
| 12 | g.47844993A>G | CA384514630 | VDR | c.1037T>C (p.Val346Ala) c.*1039T>C (n.*1039T>C) c.1187T>C (p.Val396Ala) c.1106T>C (p.Val369Ala) | |
| 12 | g.47844993A>T | CA384514628 | VDR | c.1037T>A (p.Val346Glu) c.*1039T>A (n.*1039T>A) c.1187T>A (p.Val396Glu) c.1106T>A (p.Val369Glu) | |
| 12 | g.47844994C>A | CA384514632 | VDR | c.1036G>T (p.Val346Leu) c.*1038G>T (n.*1038G>T) c.1186G>T (p.Val396Leu) c.1105G>T (p.Val369Leu) | gnomAD v4 |
| 12 | g.47844994C= | CA2034409024 | VDR | c.1036G= (p.Val346=) c.*1038G= (n.*1038G=) c.1186G= (p.Val396=) c.1105G= (p.Val369=) | |
| 12 | g.47844994C>G | CA384514631 | VDR | c.1036G>C (p.Val346Leu) c.*1038G>C (n.*1038G>C) c.1186G>C (p.Val396Leu) c.1105G>C (p.Val369Leu) | |
| 12 | g.47844994C>T | CA119044 | VDR | c.1036G>A (p.Val346Met) c.*1038G>A (n.*1038G>A) c.1186G>A (p.Val396Met) c.1105G>A (p.Val369Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47844995C>A | CA479696579 | VDR | c.1035G>T (p.Gly345=) c.*1037G>T (n.*1037G>T) c.1185G>T (p.Gly395=) c.1104G>T (p.Gly368=) | |
| 12 | g.47844995C= | CA2034409025 | VDR | c.1035G= (p.Gly345=) c.*1037G= (n.*1037G=) c.1185G= (p.Gly395=) c.1104G= (p.Gly368=) | |
| 12 | g.47844995C>G | CA479696580 | VDR | c.1035G>C (p.Gly345=) c.*1037G>C (n.*1037G>C) c.1185G>C (p.Gly395=) c.1104G>C (p.Gly368=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844995C>T | CA479696581 | VDR | c.1035G>A (p.Gly345=) c.*1037G>A (n.*1037G>A) c.1185G>A (p.Gly395=) c.1104G>A (p.Gly368=) | |
| 12 | g.47844996C>A | CA384514633 | VDR | c.1034G>T (p.Gly345Val) c.*1036G>T (n.*1036G>T) c.1184G>T (p.Gly395Val) c.1103G>T (p.Gly368Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844996C= | CA2034409026 | VDR | c.1034G= (p.Gly345=) c.*1036G= (n.*1036G=) c.1184G= (p.Gly395=) c.1103G= (p.Gly368=) | |
| 12 | g.47844996C>G | CA384514634 | VDR | c.1034G>C (p.Gly345Ala) c.*1036G>C (n.*1036G>C) c.1184G>C (p.Gly395Ala) c.1103G>C (p.Gly368Ala) | |
| 12 | g.47844996C>T | CA384514635 | VDR | c.1034G>A (p.Gly345Glu) c.*1036G>A (n.*1036G>A) c.1184G>A (p.Gly395Glu) c.1103G>A (p.Gly368Glu) | |
| 12 | g.47844997C>A | CA384514638 | VDR | c.1033G>T (p.Gly345Trp) c.*1035G>T (n.*1035G>T) c.1183G>T (p.Gly395Trp) c.1102G>T (p.Gly368Trp) | |
| 12 | g.47844997C>G | CA384514637 | VDR | c.1033G>C (p.Gly345Arg) c.*1035G>C (n.*1035G>C) c.1183G>C (p.Gly395Arg) c.1102G>C (p.Gly368Arg) | |
| 12 | g.47844997C>T | CA384514636 | VDR | c.1033G>A (p.Gly345Arg) c.*1035G>A (n.*1035G>A) c.1183G>A (p.Gly395Arg) c.1102G>A (p.Gly368Arg) | gnomAD v4 |
| 12 | g.47844998A>C | CA479696585 | VDR | c.1032T>G (p.Pro344=) c.*1034T>G (n.*1034T>G) c.1182T>G (p.Pro394=) c.1101T>G (p.Pro367=) | |
| 12 | g.47844998A>G | CA479696586 | VDR | c.1032T>C (p.Pro344=) c.*1034T>C (n.*1034T>C) c.1182T>C (p.Pro394=) c.1101T>C (p.Pro367=) | |
| 12 | g.47844998A>T | CA479696588 | VDR | c.1032T>A (p.Pro344=) c.*1034T>A (n.*1034T>A) c.1182T>A (p.Pro394=) c.1101T>A (p.Pro367=) | |
| 12 | g.47844999G>A | CA384514639 | VDR | c.1031C>T (p.Pro344Leu) c.*1033C>T (n.*1033C>T) c.1181C>T (p.Pro394Leu) c.1100C>T (p.Pro367Leu) | |
| 12 | g.47844999G>C | CA384514640 | VDR | c.1031C>G (p.Pro344Arg) c.*1033C>G (n.*1033C>G) c.1181C>G (p.Pro394Arg) c.1100C>G (p.Pro367Arg) | |
| 12 | g.47844999G>T | CA384514641 | VDR | c.1031C>A (p.Pro344His) c.*1033C>A (n.*1033C>A) c.1181C>A (p.Pro394His) c.1100C>A (p.Pro367His) | gnomAD v4 |
| 12 | g.47845000G>A | CA384514642 | VDR | c.1030C>T (p.Pro344Ser) c.*1032C>T (n.*1032C>T) c.1180C>T (p.Pro394Ser) c.1099C>T (p.Pro367Ser) | ClinVar |
| 12 | g.47845000G>C | CA384514643 | VDR | c.1030C>G (p.Pro344Ala) c.*1032C>G (n.*1032C>G) c.1180C>G (p.Pro394Ala) c.1099C>G (p.Pro367Ala) | |
| 12 | g.47845000G>T | CA384514644 | VDR | c.1030C>A (p.Pro344Thr) c.*1032C>A (n.*1032C>A) c.1180C>A (p.Pro394Thr) c.1099C>A (p.Pro367Thr) | gnomAD v4 |
| 12 | g.47845001A>C | CA479696590 | VDR | c.1029T>G (p.Arg343=) c.*1031T>G (n.*1031T>G) c.1179T>G (p.Arg393=) c.1098T>G (p.Arg366=) | |
| 12 | g.47845001A>G | CA479696591 | VDR | c.1029T>C (p.Arg343=) c.*1031T>C (n.*1031T>C) c.1179T>C (p.Arg393=) c.1098T>C (p.Arg366=) | |
| 12 | g.47845001A>T | CA479696592 | VDR | c.1029T>A (p.Arg343=) c.*1031T>A (n.*1031T>A) c.1179T>A (p.Arg393=) c.1098T>A (p.Arg366=) | |
| 12 | g.47845002C>A | CA384514645 | VDR | c.1028G>T (p.Arg343Leu) c.*1030G>T (n.*1030G>T) c.1178G>T (p.Arg393Leu) c.1097G>T (p.Arg366Leu) | |
| 12 | g.47845002C= | CA2034409027 | VDR | c.1028G= (p.Arg343=) c.*1030G= (n.*1030G=) c.1178G= (p.Arg393=) c.1097G= (p.Arg366=) | |
| 12 | g.47845002C>G | CA384514646 | VDR | c.1028G>C (p.Arg343Pro) c.*1030G>C (n.*1030G>C) c.1178G>C (p.Arg393Pro) c.1097G>C (p.Arg366Pro) | |
| 12 | g.47845002C>T | CA236506433 | VDR | c.1028G>A (p.Arg343His) c.*1030G>A (n.*1030G>A) c.1178G>A (p.Arg393His) c.1097G>A (p.Arg366His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.47845003G>A | CA16606541 | VDR | c.1027C>T (p.Arg343Cys) c.*1029C>T (n.*1029C>T) c.1177C>T (p.Arg393Cys) c.1096C>T (p.Arg366Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47845003G>C | CA384514647 | VDR | c.1027C>G (p.Arg343Gly) c.*1029C>G (n.*1029C>G) c.1177C>G (p.Arg393Gly) c.1096C>G (p.Arg366Gly) | |
| 12 | g.47845003G= | CA2034409028 | VDR | c.1027C= (p.Arg343=) c.*1029C= (n.*1029C=) c.1177C= (p.Arg393=) c.1096C= (p.Arg366=) | |
| 12 | g.47845003G>T | CA384514648 | VDR | c.1027C>A (p.Arg343Ser) c.*1029C>A (n.*1029C>A) c.1177C>A (p.Arg393Ser) c.1096C>A (p.Arg366Ser) | gnomAD v4 |
| 12 | g.47845004A>C | CA384514649 | VDR | c.1026T>G (p.Asp342Glu) c.*1028T>G (n.*1028T>G) c.1176T>G (p.Asp392Glu) c.1095T>G (p.Asp365Glu) | |
| 12 | g.47845004A>G | CA479696594 | VDR | c.1026T>C (p.Asp342=) c.*1028T>C (n.*1028T>C) c.1176T>C (p.Asp392=) c.1095T>C (p.Asp365=) | |
| 12 | g.47845004A>T | CA384514650 | VDR | c.1026T>A (p.Asp342Glu) c.*1028T>A (n.*1028T>A) c.1176T>A (p.Asp392Glu) c.1095T>A (p.Asp365Glu) | |
| 12 | g.47845005T>A | CA384514651 | VDR | c.1025A>T (p.Asp342Val) c.*1027A>T (n.*1027A>T) c.1175A>T (p.Asp392Val) c.1094A>T (p.Asp365Val) | |
| 12 | g.47845005T>C | CA384514652 | VDR | c.1025A>G (p.Asp342Gly) c.*1027A>G (n.*1027A>G) c.1175A>G (p.Asp392Gly) c.1094A>G (p.Asp365Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47845005T>G | CA384514653 | VDR | c.1025A>C (p.Asp342Ala) c.*1027A>C (n.*1027A>C) c.1175A>C (p.Asp392Ala) c.1094A>C (p.Asp365Ala) | |
| 12 | g.47845005T= | CA2034409029 | VDR | c.1025A= (p.Asp342=) c.*1027A= (n.*1027A=) c.1175A= (p.Asp392=) c.1094A= (p.Asp365=) | |
| 12 | g.47845006C>A | CA384514654 | VDR | c.1025-1G>T (n.1025-1G>T) c.*1027-1G>T (n.*1027-1G>T) c.1175-1G>T (n.1175-1G>T) c.1094-1G>T (n.1094-1G>T) | |
| 12 | g.47845006C>G | CA384514655 | VDR | c.1025-1G>C (n.1025-1G>C) c.*1027-1G>C (n.*1027-1G>C) c.1175-1G>C (n.1175-1G>C) c.1094-1G>C (n.1094-1G>C) | |
| 12 | g.47845006C>T | CA384514656 | VDR | c.1025-1G>A (n.1025-1G>A) c.*1027-1G>A (n.*1027-1G>A) c.1175-1G>A (n.1175-1G>A) c.1094-1G>A (n.1094-1G>A) | gnomAD v4 |
| 12 | g.47845007T>A | CA384514659 | VDR | c.1025-2A>T (n.1025-2A>T) c.*1027-2A>T (n.*1027-2A>T) c.1175-2A>T (n.1175-2A>T) c.1094-2A>T (n.1094-2A>T) | |
| 12 | g.47845007T>C | CA384514658 | VDR | c.1025-2A>G (n.1025-2A>G) c.*1027-2A>G (n.*1027-2A>G) c.1175-2A>G (n.1175-2A>G) c.1094-2A>G (n.1094-2A>G) | gnomAD v4 |
| 12 | g.47845007T>G | CA384514657 | VDR | c.1025-2A>C (n.1025-2A>C) c.*1027-2A>C (n.*1027-2A>C) c.1175-2A>C (n.1175-2A>C) c.1094-2A>C (n.1094-2A>C) | |
| 12 | g.47845008G= | CA2034409030 | VDR | c.1025-3C= (n.1025-3C=) c.*1027-3C= (n.*1027-3C=) c.1175-3C= (n.1175-3C=) c.1094-3C= (n.1094-3C=) | |
| 12 | g.47845008G>T | CA2618497847 | VDR | c.1025-3C>A (n.1025-3C>A) c.*1027-3C>A (n.*1027-3C>A) c.1175-3C>A (n.1175-3C>A) c.1094-3C>A (n.1094-3C>A) | gnomAD v4 |
| 12 | g.47845008_47845009insGGGAGACGATGCAGA | CA6533771 | VDR | c.1025-4_1025-3insTCTGCATCGTCTCCC (n.1025-4_1025-3insTCTGCATCGTCTCCC) c.*1027-4_*1027-3insTCTGCATCGTCTCCC (n.*1027-4_*1027-3insTCTGCATCGTCTCCC) c.1175-4_1175-3insTCTGCATCGTCTCCC (n.1175-4_1175-3insTCTGCATCGTCTCCC) c.1094-4_1094-3insTCTGCATCGTCTCCC (n.1094-4_1094-3insTCTGCATCGTCTCCC) | dbSNP ExAC |
| 12 | g.47845009T>G | CA236506451 | VDR | c.1025-4A>C (n.1025-4A>C) c.*1027-4A>C (n.*1027-4A>C) c.1175-4A>C (n.1175-4A>C) c.1094-4A>C (n.1094-4A>C) | dbSNP |
| 12 | g.47845009T= | CA2034409031 | VDR | c.1025-4A= (n.1025-4A=) c.*1027-4A= (n.*1027-4A=) c.1175-4A= (n.1175-4A=) c.1094-4A= (n.1094-4A=) | |
| 12 | g.47845010G>A | CA2740092360 | VDR | c.1025-5C>T (n.1025-5C>T) c.*1027-5C>T (n.*1027-5C>T) c.1175-5C>T (n.1175-5C>T) c.1094-5C>T (n.1094-5C>T) | ClinVar |
| 12 | g.47845011G>A | CA605231325 | VDR | c.1025-6C>T (n.1025-6C>T) c.*1027-6C>T (n.*1027-6C>T) c.1175-6C>T (n.1175-6C>T) c.1094-6C>T (n.1094-6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47845011G= | CA2034409032 | VDR | c.1025-6C= (n.1025-6C=) c.*1027-6C= (n.*1027-6C=) c.1175-6C= (n.1175-6C=) c.1094-6C= (n.1094-6C=) | |
| 12 | g.47845011_47845012insCCATGAGCAGGACATGCTCCTCCTCAT | CA6533772 | VDR | c.1025-7_1025-6insATGAGGAGGAGCATGTCCTGCTCATGG (n.1025-7_1025-6insATGAGGAGGAGCATGTCCTGCTCATGG) c.*1027-7_*1027-6insATGAGGAGGAGCATGTCCTGCTCATGG (n.*1027-7_*1027-6insATGAGGAGGAGCATGTCCTGCTCATGG) c.1175-7_1175-6insATGAGGAGGAGCATGTCCTGCTCATGG (n.1175-7_1175-6insATGAGGAGGAGCATGTCCTGCTCATGG) c.1094-7_1094-6insATGAGGAGGAGCATGTCCTGCTCATGG (n.1094-7_1094-6insATGAGGAGGAGCATGTCCTGCTCATGG) | dbSNP ExAC |
| 12 | g.47845012G= | CA2034409033 | VDR | c.1025-7C= (n.1025-7C=) c.*1027-7C= (n.*1027-7C=) c.1175-7C= (n.1175-7C=) c.1094-7C= (n.1094-7C=) | |
| 12 | g.47845012G>T | CA605231326 | VDR | c.1025-7C>A (n.1025-7C>A) c.*1027-7C>A (n.*1027-7C>A) c.1175-7C>A (n.1175-7C>A) c.1094-7C>A (n.1094-7C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |