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