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.47844685_47844717del | CA2795861924 | VDR | c.1320_1352del (p.Cys440_Gly450del) c.*36_*68del (n.*36_*68del) c.*1322_*1354del (n.*1322_*1354del) | |
12 | g.47844693_47844705del | CA2543999765 | VDR | c.1330_1342del (p.Ala444ProfsTer?) c.*46_*58del (n.*46_*58del) c.*1332_*1344del (n.*1332_*1344del) | gnomAD v4 |
12 | g.47844699G>A | CA605231301 | VDR | c.1331C>T (p.Ala444Val) c.*47C>T (n.*47C>T) c.*1333C>T (n.*1333C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844699G>C | CA2034408893 | VDR | c.1331C>G (p.Ala444Gly) c.*47C>G (n.*47C>G) c.*1333C>G (n.*1333C>G) | dbSNP |
12 | g.47844699G= | CA2034408894 | VDR | c.1331C= (p.Ala444=) c.*47C= (n.*47C=) c.*1333C= (n.*1333C=) | |
12 | g.47844699G>T | CA2618496886 | VDR | c.1331C>A (p.Ala444Asp) c.*47C>A (n.*47C>A) c.*1333C>A (n.*1333C>A) | gnomAD v4 |
12 | g.47844700C= | CA2034408895 | VDR | c.1330G= (p.Ala444=) c.*46G= (n.*46G=) c.*1332G= (n.*1332G=) | |
12 | g.47844700C>T | CA605231302 | VDR | c.1330G>A (p.Ala444Thr) c.*46G>A (n.*46G>A) c.*1332G>A (n.*1332G>A) | dbSNP gnomAD v2 |
12 | g.47844702C>T | CA2618496889 | VDR | c.1328G>A (p.Arg443Lys) c.*44G>A (n.*44G>A) c.*1330G>A (n.*1330G>A) | gnomAD v4 |
12 | g.47844703T>A | CA605231303 | VDR | c.1327A>T (p.Arg443Trp) c.*43A>T (n.*43A>T) c.*1329A>T (n.*1329A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844703T>G | CA2575136867 | VDR | c.1327A>C (p.Arg443=) c.*43A>C (n.*43A>C) c.*1329A>C (n.*1329A>C) | |
12 | g.47844703T= | CA2034408896 | VDR | c.1327A= (p.Arg443=) c.*43A= (n.*43A=) c.*1329A= (n.*1329A=) | |
12 | g.47844704G>T | CA2575136868 | VDR | c.1326C>A (p.Ser442=) c.*42C>A (n.*42C>A) c.*1328C>A (n.*1328C>A) | |
12 | g.47844705G= | CA2034408897 | VDR | c.1325C= (p.Ser442=) c.*41C= (n.*41C=) c.*1327C= (n.*1327C=) | |
12 | g.47844705G>T | CA6533704 | VDR | c.1325C>A (p.Ser442Tyr) c.*41C>A (n.*41C>A) c.*1327C>A (n.*1327C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844706A= | CA2034408898 | VDR | c.1324T= (p.Ser442=) c.*40T= (n.*40T=) c.*1326T= (n.*1326T=) | |
12 | g.47844706A>C | CA605231304 | VDR | c.1324T>G (p.Ser442Ala) c.*40T>G (n.*40T>G) c.*1326T>G (n.*1326T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844707G>A | CA605231305 | VDR | c.1323C>T (p.Ser441=) c.*39C>T (n.*39C>T) c.*1325C>T (n.*1325C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47844707G= | CA2034408899 | VDR | c.1323C= (p.Ser441=) c.*39C= (n.*39C=) c.*1325C= (n.*1325C=) | |
12 | g.47844708G>A | CA2618496898 | VDR | c.1322C>T (p.Ser441Phe) c.*38C>T (n.*38C>T) c.*1324C>T (n.*1324C>T) | gnomAD v4 |
12 | g.47844710G>A | CA605231306 | VDR | c.1320C>T (p.Cys440=) c.*36C>T (n.*36C>T) c.*1322C>T (n.*1322C>T) | gnomAD v2 gnomAD v4 |
12 | g.47844710_47844718delinsGCAGCCCCA | CA2034408900 | VDR | c.1312_1320delinsTGGGGCTGC (p.Trp438=) c.*28_*36delinsTGGGGCTGC (n.*28_*36delinsTGGGGCTGC) c.*1314_*1322delinsTGGGGCTGC (n.*1314_*1322delinsTGGGGCTGC) | |
12 | g.47844711C>A | CA236505928 | VDR | c.1319G>T (p.Cys440Phe) c.*35G>T (n.*35G>T) c.*1321G>T (n.*1321G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47844711C= | CA2034408901 | VDR | c.1319G= (p.Cys440=) c.*35G= (n.*35G=) c.*1321G= (n.*1321G=) | |
12 | g.47844711C>T | CA2618496903 | VDR | c.1319G>A (p.Cys440Tyr) c.*35G>A (n.*35G>A) c.*1321G>A (n.*1321G>A) | gnomAD v4 |
12 | g.47844712_47844719del | CA6533705 | VDR | c.1312_1319del (p.Trp438LeufsTer?) c.*28_*35del (n.*28_*35del) c.*1314_*1321del (n.*1314_*1321del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844714C>G | CA2618496928 | VDR | c.1316G>C (p.Gly439Ala) c.*32G>C (n.*32G>C) c.*1318G>C (n.*1318G>C) | gnomAD v4 |
12 | g.47844714C>T | CA2618496932 | VDR | c.1316G>A (p.Gly439Asp) c.*32G>A (n.*32G>A) c.*1318G>A (n.*1318G>A) | gnomAD v4 |
12 | g.47844717del | CA2618496923 | VDR | c.1316del (p.Gly439AlafsTer?) c.*32del (n.*32del) c.*1318del (n.*1318del) | gnomAD v4 |
12 | g.47844715C= | CA2034408902 | VDR | c.1315G= (p.Gly439=) c.*31G= (n.*31G=) c.*1317G= (n.*1317G=) | |
12 | g.47844715C>T | CA2034408903 | VDR | c.1315G>A (p.Gly439Ser) c.*31G>A (n.*31G>A) c.*1317G>A (n.*1317G>A) | dbSNP |
12 | g.47844716C= | CA2034408904 | VDR | c.1314G= (p.Trp438=) c.*30G= (n.*30G=) c.*1316G= (n.*1316G=) | |
12 | g.47844716C>T | CA605231307 | VDR | c.1314G>A (p.Trp438Ter) c.*30G>A (n.*30G>A) c.*1316G>A (n.*1316G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844717C>T | CA2618496938 | VDR | c.1313G>A (p.Trp438Ter) c.*29G>A (n.*29G>A) c.*1315G>A (n.*1315G>A) | gnomAD v4 |
12 | g.47844718A= | CA2034408905 | VDR | c.1312T= (p.Trp438=) c.*28T= (n.*28T=) c.*1314T= (n.*1314T=) | |
12 | g.47844718A>C | CA2034408906 | VDR | c.1312T>G (p.Trp438Gly) c.*28T>G (n.*28T>G) c.*1314T>G (n.*1314T>G) | dbSNP gnomAD v4 |
12 | g.47844718A>G | CA2575136869 | VDR | c.1312T>C (p.Trp438Arg) c.*28T>C (n.*28T>C) c.*1314T>C (n.*1314T>C) | gnomAD v4 |
12 | g.47844721del | CA2618496944 | VDR | c.1311del (p.Trp438GlyfsTer?) c.*27del (n.*27del) c.*1313del (n.*1313del) | gnomAD v4 |
12 | g.47844720C= | CA2034408907 | VDR | c.1310G= (p.Gly437=) c.*26G= (n.*26G=) c.*1312G= (n.*1312G=) | |
12 | g.47844720C>T | CA2034408908 | VDR | c.1310G>A (p.Gly437Glu) c.*26G>A (n.*26G>A) c.*1312G>A (n.*1312G>A) | dbSNP gnomAD v4 |
12 | g.47844721C= | CA2034408909 | VDR | c.1309G= (p.Gly437=) c.*25G= (n.*25G=) c.*1311G= (n.*1311G=) | |
12 | g.47844721C>T | CA2034408910 | VDR | c.1309G>A (p.Gly437Arg) c.*25G>A (n.*25G>A) c.*1311G>A (n.*1311G>A) | dbSNP |
12 | g.47844722A>G | CA2618496951 | VDR | c.1308T>C (p.Pro436=) c.*24T>C (n.*24T>C) c.*1310T>C (n.*1310T>C) | gnomAD v4 |
12 | g.47844723G>C | CA947336605 | VDR | c.1307C>G (p.Pro436Arg) c.*23C>G (n.*23C>G) c.*1309C>G (n.*1309C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47844723G= | CA2034408911 | VDR | c.1307C= (p.Pro436=) c.*23C= (n.*23C=) c.*1309C= (n.*1309C=) | |
12 | g.47844724del | CA2537966908 | VDR | c.1307del (p.Pro436LeufsTer?) c.*23del (n.*23del) c.*1309del (n.*1309del) | |
12 | g.47844724G>T | CA2618496956 | VDR | c.1306C>A (p.Pro436Thr) c.*22C>A (n.*22C>A) c.*1308C>A (n.*1308C>A) | gnomAD v4 |
12 | g.47844725C>A | CA2618496957 | VDR | c.1305G>T (p.Val435=) c.*21G>T (n.*21G>T) c.*1307G>T (n.*1307G>T) | gnomAD v4 |
12 | g.47844726_47844729del | CA2503039086 | VDR | c.1301_1304del (p.Ala434GlyfsTer?) c.*17_*20del (n.*17_*20del) c.*1303_*1306del (n.*1303_*1306del) | |
12 | g.47844727C>A | CA605231308 | VDR | c.1303G>T (p.Val435Leu) c.*19G>T (n.*19G>T) c.*1305G>T (n.*1305G>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47844727C= | CA2034408912 | VDR | c.1303G= (p.Val435=) c.*19G= (n.*19G=) c.*1305G= (n.*1305G=) | |
12 | g.47844728C= | CA2034408913 | VDR | c.1302G= (p.Ala434=) c.*18G= (n.*18G=) c.*1304G= (n.*1304G=) | |
12 | g.47844728C>G | CA2034408914 | VDR | c.1302G>C (p.Ala434=) c.*18G>C (n.*18G>C) c.*1304G>C (n.*1304G>C) | dbSNP |
12 | g.47844728C>T | CA6533706 | VDR | c.1302G>A (p.Ala434=) c.*18G>A (n.*18G>A) c.*1304G>A (n.*1304G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844729G>A | CA6533707 | VDR | c.1301C>T (p.Ala434Val) c.*17C>T (n.*17C>T) c.*1303C>T (n.*1303C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844729G= | CA2034408915 | VDR | c.1301C= (p.Ala434=) c.*17C= (n.*17C=) c.*1303C= (n.*1303C=) | |
12 | g.47844730C= | CA2034408916 | VDR | c.1300G= (p.Ala434=) c.*16G= (n.*16G=) c.*1302G= (n.*1302G=) | |
12 | g.47844730C>G | CA605231309 | VDR | c.1300G>C (p.Ala434Pro) c.*16G>C (n.*16G>C) c.*1302G>C (n.*1302G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47844730C>T | CA6533708 | VDR | c.1300G>A (p.Ala434Thr) c.*16G>A (n.*16G>A) c.*1302G>A (n.*1302G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844731C= | CA2034408917 | VDR | c.1299G= (p.Val433=) c.*15G= (n.*15G=) c.*1301G= (n.*1301G=) | |
12 | g.47844731C>T | CA6533709 | VDR | c.1299G>A (p.Val433=) c.*15G>A (n.*15G>A) c.*1301G>A (n.*1301G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844732A>G | CA2618496978 | VDR | c.1298T>C (p.Val433Ala) c.*14T>C (n.*14T>C) c.*1300T>C (n.*1300T>C) | gnomAD v4 |
12 | g.47844733C= | CA2034408918 | VDR | c.1297G= (p.Val433=) c.*13G= (n.*13G=) c.*1299G= (n.*1299G=) | |
12 | g.47844733C>T | CA605231311 | VDR | c.1297G>A (p.Val433Met) c.*13G>A (n.*13G>A) c.*1299G>A (n.*1299G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844734A= | CA2034408919 | VDR | c.1296T= (p.Pro432=) c.*12T= (n.*12T=) c.*1298T= (n.*1298T=) | |
12 | g.47844734A>T | CA947336611 | VDR | c.1296T>A (p.Pro432=) c.*12T>A (n.*12T>A) c.*1298T>A (n.*1298T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47844734dup | CA689460140 | VDR | c.1296dup (p.Val433CysfsTer?) c.*12dup (n.*12dup) c.*1298dup (n.*1298dup) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47844735G>A | CA6533710 | VDR | c.1295C>T (p.Pro432Leu) c.*11C>T (n.*11C>T) c.*1297C>T (n.*1297C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844735G= | CA2034408920 | VDR | c.1295C= (p.Pro432=) c.*11C= (n.*11C=) c.*1297C= (n.*1297C=) | |
12 | g.47844735G>T | CA2575136870 | VDR | c.1295C>A (p.Pro432His) c.*11C>A (n.*11C>A) c.*1297C>A (n.*1297C>A) | |
12 | g.47844736G>A | CA605231312 | VDR | c.1294C>T (p.Pro432Ser) c.*10C>T (n.*10C>T) c.*1296C>T (n.*1296C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47844736G= | CA2034408921 | VDR | c.1294C= (p.Pro432=) c.*10C= (n.*10C=) c.*1296C= (n.*1296C=) | |
12 | g.47844736G>T | CA605231313 | VDR | c.1294C>A (p.Pro432Thr) c.*10C>A (n.*10C>A) c.*1296C>A (n.*1296C>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47844738T>C | CA6533711 | VDR | c.1292A>G (p.Gln431Arg) c.*8A>G (n.*8A>G) c.*1294A>G (n.*1294A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844738T= | CA2034408922 | VDR | c.1292A= (p.Gln431=) c.*8A= (n.*8A=) c.*1294A= (n.*1294A=) | |
12 | g.47844740T>C | CA6533712 | VDR | c.1290A>G (p.Gly430=) c.*6A>G (n.*6A>G) c.*1292A>G (n.*1292A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844740T= | CA2034408923 | VDR | c.1290A= (p.Gly430=) c.*6A= (n.*6A=) c.*1292A= (n.*1292A=) | |
12 | g.47844741C= | CA2034408924 | VDR | c.1289G= (p.Gly430=) c.*5G= (n.*5G=) c.*1291G= (n.*1291G=) | |
12 | g.47844741C>T | CA6533713 | VDR | c.1289G>A (p.Gly430Glu) c.*5G>A (n.*5G>A) c.*1291G>A (n.*1291G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844743T>C | CA2575136871 | VDR | c.1287A>G (p.Leu429=) c.*3A>G (n.*3A>G) c.*1289A>G (n.*1289A>G) | gnomAD v4 |
12 | g.47844743T>G | CA605231314 | VDR | c.1287A>C (p.Leu429=) c.*3A>C (n.*3A>C) c.*1289A>C (n.*1289A>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47844743T= | CA2034408925 | VDR | c.1287A= (p.Leu429=) c.*3A= (n.*3A=) c.*1289A= (n.*1289A=) | |
12 | g.47844745G>A | CA6533714 | VDR | c.1285C>T (p.Leu429=) c.*1C>T (n.*1C>T) c.*1287C>T (n.*1287C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.47844745G>C | CA2575136872 | VDR | c.1285C>G (p.Leu429Val) c.*1C>G (n.*1C>G) c.*1287C>G (n.*1287C>G) | |
12 | g.47844745G= | CA2034408926 | VDR | c.1285C= (p.Leu429=) c.*1C= (n.*1C=) c.*1287C= (n.*1287C=) | |
12 | g.47844746T>A | CA384513511 | VDR | c.1284A>T (p.Ter428Cys) c.*1286A>T (n.*1286A>T) c.1434A>T (p.Ter478Cys) c.1353A>T (p.Ter451Cys) | |
12 | g.47844746T>C | CA384513512 | VDR | c.1284A>G (p.Ter428Trp) c.*1286A>G (n.*1286A>G) c.1434A>G (p.Ter478Trp) c.1353A>G (p.Ter451Trp) | |
12 | g.47844746T>G | CA384513513 | VDR | c.1284A>C (p.Ter428Cys) c.*1286A>C (n.*1286A>C) c.1434A>C (p.Ter478Cys) c.1353A>C (p.Ter451Cys) | |
12 | g.47844747C>A | CA384513516 | VDR | c.1283G>T (p.Ter428Leu) c.*1285G>T (n.*1285G>T) c.1433G>T (p.Ter478Leu) c.1352G>T (p.Ter451Leu) | |
12 | g.47844747C>G | CA384513514 | VDR | c.1283G>C (p.Ter428Ser) c.*1285G>C (n.*1285G>C) c.1433G>C (p.Ter478Ser) c.1352G>C (p.Ter451Ser) | |
12 | g.47844747C>T | CA479696423 | VDR | c.1283G>A (p.Ter428=) c.*1285G>A (n.*1285G>A) c.1433G>A (p.Ter478=) c.1352G>A (p.Ter451=) | |
12 | g.47844748A>C | CA384513518 | VDR | c.1282T>G (p.Ter428Gly) c.*1284T>G (n.*1284T>G) c.1432T>G (p.Ter478Gly) c.1351T>G (p.Ter451Gly) | |
12 | g.47844748A>G | CA384513522 | VDR | c.1282T>C (p.Ter428Arg) c.*1284T>C (n.*1284T>C) c.1432T>C (p.Ter478Arg) c.1351T>C (p.Ter451Arg) | |
12 | g.47844748A>T | CA384513523 | VDR | c.1282T>A (p.Ter428Arg) c.*1284T>A (n.*1284T>A) c.1432T>A (p.Ter478Arg) c.1351T>A (p.Ter451Arg) | |
12 | g.47844749G>A | CA479696424 | VDR | c.1281C>T (p.Ser427=) c.*1283C>T (n.*1283C>T) c.1431C>T (p.Ser477=) c.1350C>T (p.Ser450=) | |
12 | g.47844749G>C | CA479696427 | VDR | c.1281C>G (p.Ser427=) c.*1283C>G (n.*1283C>G) c.1431C>G (p.Ser477=) c.1350C>G (p.Ser450=) | |
12 | g.47844749G>T | CA479696425 | VDR | c.1281C>A (p.Ser427=) c.*1283C>A (n.*1283C>A) c.1431C>A (p.Ser477=) c.1350C>A (p.Ser450=) | |
12 | g.47844750G>A | CA384513526 | VDR | c.1280C>T (p.Ser427Phe) c.*1282C>T (n.*1282C>T) c.1430C>T (p.Ser477Phe) c.1349C>T (p.Ser450Phe) | |
12 | g.47844750G>C | CA384513527 | VDR | c.1280C>G (p.Ser427Cys) c.*1282C>G (n.*1282C>G) c.1430C>G (p.Ser477Cys) c.1349C>G (p.Ser450Cys) | |
12 | g.47844750G>T | CA384513528 | VDR | c.1280C>A (p.Ser427Tyr) c.*1282C>A (n.*1282C>A) c.1430C>A (p.Ser477Tyr) c.1349C>A (p.Ser450Tyr) | |
12 | g.47844751A= | CA2034408927 | VDR | c.1279T= (p.Ser427=) c.*1281T= (n.*1281T=) c.1429T= (p.Ser477=) c.1348T= (p.Ser450=) | |
12 | g.47844751A>C | CA236505968 | VDR | c.1279T>G (p.Ser427Ala) c.*1281T>G (n.*1281T>G) c.1429T>G (p.Ser477Ala) c.1348T>G (p.Ser450Ala) | dbSNP |
12 | g.47844751A>G | CA384513530 | VDR | c.1279T>C (p.Ser427Pro) c.*1281T>C (n.*1281T>C) c.1429T>C (p.Ser477Pro) c.1348T>C (p.Ser450Pro) | |
12 | g.47844751A>T | CA384513532 | VDR | c.1279T>A (p.Ser427Thr) c.*1281T>A (n.*1281T>A) c.1429T>A (p.Ser477Thr) c.1348T>A (p.Ser450Thr) | |
12 | g.47844752G>A | CA479696431 | VDR | c.1278C>T (p.Ile426=) c.*1280C>T (n.*1280C>T) c.1428C>T (p.Ile476=) c.1347C>T (p.Ile449=) | |
12 | g.47844752G>C | CA384513534 | VDR | c.1278C>G (p.Ile426Met) c.*1280C>G (n.*1280C>G) c.1428C>G (p.Ile476Met) c.1347C>G (p.Ile449Met) | |
12 | g.47844752G>T | CA479696432 | VDR | c.1278C>A (p.Ile426=) c.*1280C>A (n.*1280C>A) c.1428C>A (p.Ile476=) c.1347C>A (p.Ile449=) | |
12 | g.47844753A>C | CA384513535 | VDR | c.1277T>G (p.Ile426Ser) c.*1279T>G (n.*1279T>G) c.1427T>G (p.Ile476Ser) c.1346T>G (p.Ile449Ser) | |
12 | g.47844753A>G | CA384513536 | VDR | c.1277T>C (p.Ile426Thr) c.*1279T>C (n.*1279T>C) c.1427T>C (p.Ile476Thr) c.1346T>C (p.Ile449Thr) | |
12 | g.47844753A>T | CA384513537 | VDR | c.1277T>A (p.Ile426Asn) c.*1279T>A (n.*1279T>A) c.1427T>A (p.Ile476Asn) c.1346T>A (p.Ile449Asn) | |
12 | g.47844754T>A | CA384513540 | VDR | c.1276A>T (p.Ile426Phe) c.*1278A>T (n.*1278A>T) c.1426A>T (p.Ile476Phe) c.1345A>T (p.Ile449Phe) | |
12 | g.47844754T>C | CA384513541 | VDR | c.1276A>G (p.Ile426Val) c.*1278A>G (n.*1278A>G) c.1426A>G (p.Ile476Val) c.1345A>G (p.Ile449Val) | |
12 | g.47844754T>G | CA384513538 | VDR | c.1276A>C (p.Ile426Leu) c.*1278A>C (n.*1278A>C) c.1426A>C (p.Ile476Leu) c.1345A>C (p.Ile449Leu) | |
12 | g.47844755C>A | CA384513543 | VDR | c.1275G>T (p.Glu425Asp) c.*1277G>T (n.*1277G>T) c.1425G>T (p.Glu475Asp) c.1344G>T (p.Glu448Asp) | |
12 | g.47844755C>G | CA384513542 | VDR | c.1275G>C (p.Glu425Asp) c.*1277G>C (n.*1277G>C) c.1425G>C (p.Glu475Asp) c.1344G>C (p.Glu448Asp) | |
12 | g.47844755C>T | CA479696433 | VDR | c.1275G>A (p.Glu425=) c.*1277G>A (n.*1277G>A) c.1425G>A (p.Glu475=) c.1344G>A (p.Glu448=) | |
12 | g.47844756T>A | CA384513545 | VDR | c.1274A>T (p.Glu425Val) c.*1276A>T (n.*1276A>T) c.1424A>T (p.Glu475Val) c.1343A>T (p.Glu448Val) | |
12 | g.47844756T>C | CA384513546 | VDR | c.1274A>G (p.Glu425Gly) c.*1276A>G (n.*1276A>G) c.1424A>G (p.Glu475Gly) c.1343A>G (p.Glu448Gly) | |
12 | g.47844756T>G | CA384513547 | VDR | c.1274A>C (p.Glu425Ala) c.*1276A>C (n.*1276A>C) c.1424A>C (p.Glu475Ala) c.1343A>C (p.Glu448Ala) | |
12 | g.47844757C>A | CA384513551 | VDR | c.1273G>T (p.Glu425Ter) c.*1275G>T (n.*1275G>T) c.1423G>T (p.Glu475Ter) c.1342G>T (p.Glu448Ter) | |
12 | g.47844757C>G | CA384513552 | VDR | c.1273G>C (p.Glu425Gln) c.*1275G>C (n.*1275G>C) c.1423G>C (p.Glu475Gln) c.1342G>C (p.Glu448Gln) | |
12 | g.47844757C>T | CA384513555 | VDR | c.1273G>A (p.Glu425Lys) c.*1275G>A (n.*1275G>A) c.1423G>A (p.Glu475Lys) c.1342G>A (p.Glu448Lys) | ClinVar gnomAD v4 |
12 | g.47844758A>C | CA384513564 | VDR | c.1272T>G (p.Asn424Lys) c.*1274T>G (n.*1274T>G) c.1422T>G (p.Asn474Lys) c.1341T>G (p.Asn447Lys) | gnomAD v3 gnomAD v4 |
12 | g.47844758A>G | CA479696434 | VDR | c.1272T>C (p.Asn424=) c.*1274T>C (n.*1274T>C) c.1422T>C (p.Asn474=) c.1341T>C (p.Asn447=) | |
12 | g.47844758A>T | CA384513562 | VDR | c.1272T>A (p.Asn424Lys) c.*1274T>A (n.*1274T>A) c.1422T>A (p.Asn474Lys) c.1341T>A (p.Asn447Lys) | |
12 | g.47844759T>A | CA384513567 | VDR | c.1271A>T (p.Asn424Ile) c.*1273A>T (n.*1273A>T) c.1421A>T (p.Asn474Ile) c.1340A>T (p.Asn447Ile) | COSMIC COSMIC |
12 | g.47844759T>C | CA384513570 | VDR | c.1271A>G (p.Asn424Ser) c.*1273A>G (n.*1273A>G) c.1421A>G (p.Asn474Ser) c.1340A>G (p.Asn447Ser) | |
12 | g.47844759T>G | CA384513571 | VDR | c.1271A>C (p.Asn424Thr) c.*1273A>C (n.*1273A>C) c.1421A>C (p.Asn474Thr) c.1340A>C (p.Asn447Thr) | |
12 | g.47844760T>A | CA384513574 | VDR | c.1270A>T (p.Asn424Tyr) c.*1272A>T (n.*1272A>T) c.1420A>T (p.Asn474Tyr) c.1339A>T (p.Asn447Tyr) | |
12 | g.47844760T>C | CA6533715 | VDR | c.1270A>G (p.Asn424Asp) c.*1272A>G (n.*1272A>G) c.1420A>G (p.Asn474Asp) c.1339A>G (p.Asn447Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844760T>G | CA384513575 | VDR | c.1270A>C (p.Asn424His) c.*1272A>C (n.*1272A>C) c.1420A>C (p.Asn474His) c.1339A>C (p.Asn447His) | |
12 | g.47844760T= | CA2034408928 | VDR | c.1270A= (p.Asn424=) c.*1272A= (n.*1272A=) c.1420A= (p.Asn474=) c.1339A= (p.Asn447=) | |
12 | g.47844761G>A | CA479696435 | VDR | c.1269C>T (p.Gly423=) c.*1271C>T (n.*1271C>T) c.1419C>T (p.Gly473=) c.1338C>T (p.Gly446=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.47844761G>C | CA479696436 | VDR | c.1269C>G (p.Gly423=) c.*1271C>G (n.*1271C>G) c.1419C>G (p.Gly473=) c.1338C>G (p.Gly446=) | |
12 | g.47844761G= | CA2034408929 | VDR | c.1269C= (p.Gly423=) c.*1271C= (n.*1271C=) c.1419C= (p.Gly473=) c.1338C= (p.Gly446=) | |
12 | g.47844761G>T | CA479696437 | VDR | c.1269C>A (p.Gly423=) c.*1271C>A (n.*1271C>A) c.1419C>A (p.Gly473=) c.1338C>A (p.Gly446=) | |
12 | g.47844762C>A | CA384513576 | VDR | c.1268G>T (p.Gly423Val) c.*1270G>T (n.*1270G>T) c.1418G>T (p.Gly473Val) c.1337G>T (p.Gly446Val) | |
12 | g.47844762C>G | CA384513587 | VDR | c.1268G>C (p.Gly423Ala) c.*1270G>C (n.*1270G>C) c.1418G>C (p.Gly473Ala) c.1337G>C (p.Gly446Ala) | |
12 | g.47844762C>T | CA384513579 | VDR | c.1268G>A (p.Gly423Asp) c.*1270G>A (n.*1270G>A) c.1418G>A (p.Gly473Asp) c.1337G>A (p.Gly446Asp) | |
12 | g.47844763C>A | CA384513590 | VDR | c.1267G>T (p.Gly423Cys) c.*1269G>T (n.*1269G>T) c.1417G>T (p.Gly473Cys) c.1336G>T (p.Gly446Cys) | |
12 | g.47844763C>G | CA384513591 | VDR | c.1267G>C (p.Gly423Arg) c.*1269G>C (n.*1269G>C) c.1417G>C (p.Gly473Arg) c.1336G>C (p.Gly446Arg) | |
12 | g.47844763C>T | CA384513592 | VDR | c.1267G>A (p.Gly423Ser) c.*1269G>A (n.*1269G>A) c.1417G>A (p.Gly473Ser) c.1336G>A (p.Gly446Ser) | |
12 | g.47844764A>C | CA384513593 | VDR | c.1266T>G (p.Phe422Leu) c.*1268T>G (n.*1268T>G) c.1416T>G (p.Phe472Leu) c.1335T>G (p.Phe445Leu) | |
12 | g.47844764A>G | CA479696438 | VDR | c.1266T>C (p.Phe422=) c.*1268T>C (n.*1268T>C) c.1416T>C (p.Phe472=) c.1335T>C (p.Phe445=) | |
12 | g.47844764A>T | CA384513594 | VDR | c.1266T>A (p.Phe422Leu) c.*1268T>A (n.*1268T>A) c.1416T>A (p.Phe472Leu) c.1335T>A (p.Phe445Leu) | |
12 | g.47844765A>C | CA384513595 | VDR | c.1265T>G (p.Phe422Cys) c.*1267T>G (n.*1267T>G) c.1415T>G (p.Phe472Cys) c.1334T>G (p.Phe445Cys) | |
12 | g.47844765A>G | CA384513596 | VDR | c.1265T>C (p.Phe422Ser) c.*1267T>C (n.*1267T>C) c.1415T>C (p.Phe472Ser) c.1334T>C (p.Phe445Ser) | |
12 | g.47844765A>T | CA384513597 | VDR | c.1265T>A (p.Phe422Tyr) c.*1267T>A (n.*1267T>A) c.1415T>A (p.Phe472Tyr) c.1334T>A (p.Phe445Tyr) | |
12 | g.47844766A>C | CA384513598 | VDR | c.1264T>G (p.Phe422Val) c.*1266T>G (n.*1266T>G) c.1414T>G (p.Phe472Val) c.1333T>G (p.Phe445Val) | |
12 | g.47844766A>G | CA384513599 | VDR | c.1264T>C (p.Phe422Leu) c.*1266T>C (n.*1266T>C) c.1414T>C (p.Phe472Leu) c.1333T>C (p.Phe445Leu) | |
12 | g.47844766A>T | CA384513600 | VDR | c.1264T>A (p.Phe422Ile) c.*1266T>A (n.*1266T>A) c.1414T>A (p.Phe472Ile) c.1333T>A (p.Phe445Ile) | |
12 | g.47844767C>A | CA6533716 | VDR | c.1263G>T (p.Val421=) c.*1265G>T (n.*1265G>T) c.1413G>T (p.Val471=) c.1332G>T (p.Val444=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844767C= | CA2034408930 | VDR | c.1263G= (p.Val421=) c.*1265G= (n.*1265G=) c.1413G= (p.Val471=) c.1332G= (p.Val444=) | |
12 | g.47844767C>G | CA479696439 | VDR | c.1263G>C (p.Val421=) c.*1265G>C (n.*1265G>C) c.1413G>C (p.Val471=) c.1332G>C (p.Val444=) | |
12 | g.47844767C>T | CA479696440 | VDR | c.1263G>A (p.Val421=) c.*1265G>A (n.*1265G>A) c.1413G>A (p.Val471=) c.1332G>A (p.Val444=) | gnomAD v4 |
12 | g.47844768A>C | CA384513603 | VDR | c.1262T>G (p.Val421Gly) c.*1264T>G (n.*1264T>G) c.1412T>G (p.Val471Gly) c.1331T>G (p.Val444Gly) | |
12 | g.47844768A>G | CA384513601 | VDR | c.1262T>C (p.Val421Ala) c.*1264T>C (n.*1264T>C) c.1412T>C (p.Val471Ala) c.1331T>C (p.Val444Ala) | |
12 | g.47844768A>T | CA384513602 | VDR | c.1262T>A (p.Val421Glu) c.*1264T>A (n.*1264T>A) c.1412T>A (p.Val471Glu) c.1331T>A (p.Val444Glu) | |
12 | g.47844769C>A | CA384513609 | VDR | c.1261G>T (p.Val421Leu) c.*1263G>T (n.*1263G>T) c.1411G>T (p.Val471Leu) c.1330G>T (p.Val444Leu) | |
12 | g.47844769C>G | CA384513610 | VDR | c.1261G>C (p.Val421Leu) c.*1263G>C (n.*1263G>C) c.1411G>C (p.Val471Leu) c.1330G>C (p.Val444Leu) | |
12 | g.47844769C>T | CA384513615 | VDR | c.1261G>A (p.Val421Met) c.*1263G>A (n.*1263G>A) c.1411G>A (p.Val471Met) c.1330G>A (p.Val444Met) | |
12 | g.47844770T>A | CA384513618 | VDR | c.1260A>T (p.Glu420Asp) c.*1262A>T (n.*1262A>T) c.1410A>T (p.Glu470Asp) c.1329A>T (p.Glu443Asp) | |
12 | g.47844770T>C | CA479696441 | VDR | c.1260A>G (p.Glu420=) c.*1262A>G (n.*1262A>G) c.1410A>G (p.Glu470=) c.1329A>G (p.Glu443=) | |
12 | g.47844770T>G | CA384513621 | VDR | c.1260A>C (p.Glu420Asp) c.*1262A>C (n.*1262A>C) c.1410A>C (p.Glu470Asp) c.1329A>C (p.Glu443Asp) | |
12 | g.47844771T>A | CA384513622 | VDR | c.1259A>T (p.Glu420Val) c.*1261A>T (n.*1261A>T) c.1409A>T (p.Glu470Val) c.1328A>T (p.Glu443Val) | |
12 | g.47844771T>C | CA384513624 | VDR | c.1259A>G (p.Glu420Gly) c.*1261A>G (n.*1261A>G) c.1409A>G (p.Glu470Gly) c.1328A>G (p.Glu443Gly) | |
12 | g.47844771T>G | CA384513626 | VDR | c.1259A>C (p.Glu420Ala) c.*1261A>C (n.*1261A>C) c.1409A>C (p.Glu470Ala) c.1328A>C (p.Glu443Ala) | |
12 | g.47844772C>A | CA384513627 | VDR | c.1258G>T (p.Glu420Ter) c.*1260G>T (n.*1260G>T) c.1408G>T (p.Glu470Ter) c.1327G>T (p.Glu443Ter) | |
12 | g.47844772C>G | CA384513628 | VDR | c.1258G>C (p.Glu420Gln) c.*1260G>C (n.*1260G>C) c.1408G>C (p.Glu470Gln) c.1327G>C (p.Glu443Gln) | |
12 | g.47844772C>T | CA384513629 | VDR | c.1258G>A (p.Glu420Lys) c.*1260G>A (n.*1260G>A) c.1408G>A (p.Glu470Lys) c.1327G>A (p.Glu443Lys) | gnomAD v4 COSMIC |
12 | g.47844773G>A | CA6533717 | VDR | c.1257C>T (p.Leu419=) c.*1259C>T (n.*1259C>T) c.1407C>T (p.Leu469=) c.1326C>T (p.Leu442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844773G>C | CA479696442 | VDR | c.1257C>G (p.Leu419=) c.*1259C>G (n.*1259C>G) c.1407C>G (p.Leu469=) c.1326C>G (p.Leu442=) | ClinVar dbSNP gnomAD v4 |
12 | g.47844773G= | CA2034408931 | VDR | c.1257C= (p.Leu419=) c.*1259C= (n.*1259C=) c.1407C= (p.Leu469=) c.1326C= (p.Leu442=) | |
12 | g.47844773G>T | CA479696443 | VDR | c.1257C>A (p.Leu419=) c.*1259C>A (n.*1259C>A) c.1407C>A (p.Leu469=) c.1326C>A (p.Leu442=) | gnomAD v4 |
12 | g.47844774A>C | CA384513635 | VDR | c.1256T>G (p.Leu419Arg) c.*1258T>G (n.*1258T>G) c.1406T>G (p.Leu469Arg) c.1325T>G (p.Leu442Arg) | |
12 | g.47844774A>G | CA384513633 | VDR | c.1256T>C (p.Leu419Pro) c.*1258T>C (n.*1258T>C) c.1406T>C (p.Leu469Pro) c.1325T>C (p.Leu442Pro) | |
12 | g.47844774A>T | CA384513630 | VDR | c.1256T>A (p.Leu419His) c.*1258T>A (n.*1258T>A) c.1406T>A (p.Leu469His) c.1325T>A (p.Leu442His) | gnomAD v4 |
12 | g.47844775G>A | CA384513644 | VDR | c.1255C>T (p.Leu419Phe) c.*1257C>T (n.*1257C>T) c.1405C>T (p.Leu469Phe) c.1324C>T (p.Leu442Phe) | |
12 | g.47844775G>C | CA384513647 | VDR | c.1255C>G (p.Leu419Val) c.*1257C>G (n.*1257C>G) c.1405C>G (p.Leu469Val) c.1324C>G (p.Leu442Val) | dbSNP |
12 | g.47844775G= | CA2034408932 | VDR | c.1255C= (p.Leu419=) c.*1257C= (n.*1257C=) c.1405C= (p.Leu469=) c.1324C= (p.Leu442=) | |
12 | g.47844775G>T | CA384513652 | VDR | c.1255C>A (p.Leu419Ile) c.*1257C>A (n.*1257C>A) c.1405C>A (p.Leu469Ile) c.1324C>A (p.Leu442Ile) | |
12 | g.47844776C>A | CA479696444 | VDR | c.1254G>T (p.Val418=) c.*1256G>T (n.*1256G>T) c.1404G>T (p.Val468=) c.1323G>T (p.Val441=) | COSMIC COSMIC |
12 | g.47844776C= | CA2034408933 | VDR | c.1254G= (p.Val418=) c.*1256G= (n.*1256G=) c.1404G= (p.Val468=) c.1323G= (p.Val441=) | |
12 | g.47844776C>G | CA479696445 | VDR | c.1254G>C (p.Val418=) c.*1256G>C (n.*1256G>C) c.1404G>C (p.Val468=) c.1323G>C (p.Val441=) | |
12 | g.47844776C>T | CA6533718 | VDR | c.1254G>A (p.Val418=) c.*1256G>A (n.*1256G>A) c.1404G>A (p.Val468=) c.1323G>A (p.Val441=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844777A>C | CA384513656 | VDR | c.1253T>G (p.Val418Gly) c.*1255T>G (n.*1255T>G) c.1403T>G (p.Val468Gly) c.1322T>G (p.Val441Gly) | |
12 | g.47844777A>G | CA384513657 | VDR | c.1253T>C (p.Val418Ala) c.*1255T>C (n.*1255T>C) c.1403T>C (p.Val468Ala) c.1322T>C (p.Val441Ala) | |
12 | g.47844777A>T | CA384513658 | VDR | c.1253T>A (p.Val418Glu) c.*1255T>A (n.*1255T>A) c.1403T>A (p.Val468Glu) c.1322T>A (p.Val441Glu) | |
12 | g.47844778C>A | CA384513659 | VDR | c.1252G>T (p.Val418Leu) c.*1254G>T (n.*1254G>T) c.1402G>T (p.Val468Leu) c.1321G>T (p.Val441Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844778C= | CA2034408934 | VDR | c.1252G= (p.Val418=) c.*1254G= (n.*1254G=) c.1402G= (p.Val468=) c.1321G= (p.Val441=) | |
12 | g.47844778C>G | CA384513662 | VDR | c.1252G>C (p.Val418Leu) c.*1254G>C (n.*1254G>C) c.1402G>C (p.Val468Leu) c.1321G>C (p.Val441Leu) | |
12 | g.47844778C>T | CA384513665 | VDR | c.1252G>A (p.Val418Met) c.*1254G>A (n.*1254G>A) c.1402G>A (p.Val468Met) c.1321G>A (p.Val441Met) | |
12 | g.47844779A>C | CA479696448 | VDR | c.1251T>G (p.Leu417=) c.*1253T>G (n.*1253T>G) c.1401T>G (p.Leu467=) c.1320T>G (p.Leu440=) | |
12 | g.47844779A>G | CA479696447 | VDR | c.1251T>C (p.Leu417=) c.*1253T>C (n.*1253T>C) c.1401T>C (p.Leu467=) c.1320T>C (p.Leu440=) | |
12 | g.47844779A>T | CA479696446 | VDR | c.1251T>A (p.Leu417=) c.*1253T>A (n.*1253T>A) c.1401T>A (p.Leu467=) c.1320T>A (p.Leu440=) | |
12 | g.47844780A>C | CA384513668 | VDR | c.1250T>G (p.Leu417Arg) c.*1252T>G (n.*1252T>G) c.1400T>G (p.Leu467Arg) c.1319T>G (p.Leu440Arg) | |
12 | g.47844780A>G | CA384513670 | VDR | c.1250T>C (p.Leu417Pro) c.*1252T>C (n.*1252T>C) c.1400T>C (p.Leu467Pro) c.1319T>C (p.Leu440Pro) | |
12 | g.47844780A>T | CA384513673 | VDR | c.1250T>A (p.Leu417His) c.*1252T>A (n.*1252T>A) c.1400T>A (p.Leu467His) c.1319T>A (p.Leu440His) | |
12 | g.47844781G>A | CA384513679 | VDR | c.1249C>T (p.Leu417Phe) c.*1251C>T (n.*1251C>T) c.1399C>T (p.Leu467Phe) c.1318C>T (p.Leu440Phe) | |
12 | g.47844781G>C | CA384513681 | VDR | c.1249C>G (p.Leu417Val) c.*1251C>G (n.*1251C>G) c.1399C>G (p.Leu467Val) c.1318C>G (p.Leu440Val) | |
12 | g.47844781G>T | CA384513676 | VDR | c.1249C>A (p.Leu417Ile) c.*1251C>A (n.*1251C>A) c.1399C>A (p.Leu467Ile) c.1318C>A (p.Leu440Ile) | |
12 | g.47844782G>A | CA479696449 | VDR | c.1248C>T (p.Pro416=) c.*1250C>T (n.*1250C>T) c.1398C>T (p.Pro466=) c.1317C>T (p.Pro439=) | gnomAD v4 |
12 | g.47844782G>C | CA479696450 | VDR | c.1248C>G (p.Pro416=) c.*1250C>G (n.*1250C>G) c.1398C>G (p.Pro466=) c.1317C>G (p.Pro439=) | |
12 | g.47844782G>T | CA479696451 | VDR | c.1248C>A (p.Pro416=) c.*1250C>A (n.*1250C>A) c.1398C>A (p.Pro466=) c.1317C>A (p.Pro439=) | |
12 | g.47844783G>A | CA384513686 | VDR | c.1247C>T (p.Pro416Leu) c.*1249C>T (n.*1249C>T) c.1397C>T (p.Pro466Leu) c.1316C>T (p.Pro439Leu) | |
12 | g.47844783G>C | CA384513688 | VDR | c.1247C>G (p.Pro416Arg) c.*1249C>G (n.*1249C>G) c.1397C>G (p.Pro466Arg) c.1316C>G (p.Pro439Arg) | |
12 | g.47844783G>T | CA384513690 | VDR | c.1247C>A (p.Pro416His) c.*1249C>A (n.*1249C>A) c.1397C>A (p.Pro466His) c.1316C>A (p.Pro439His) | |
12 | g.47844784G>A | CA384513692 | VDR | c.1246C>T (p.Pro416Ser) c.*1248C>T (n.*1248C>T) c.1396C>T (p.Pro466Ser) c.1315C>T (p.Pro439Ser) | |
12 | g.47844784G>C | CA384513696 | VDR | c.1246C>G (p.Pro416Ala) c.*1248C>G (n.*1248C>G) c.1396C>G (p.Pro466Ala) c.1315C>G (p.Pro439Ala) | |
12 | g.47844784G>T | CA384513699 | VDR | c.1246C>A (p.Pro416Thr) c.*1248C>A (n.*1248C>A) c.1396C>A (p.Pro466Thr) c.1315C>A (p.Pro439Thr) | COSMIC COSMIC |
12 | g.47844785C>A | CA6533720 | VDR | c.1245G>T (p.Thr415=) c.*1247G>T (n.*1247G>T) c.1395G>T (p.Thr465=) c.1314G>T (p.Thr438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844785C= | CA2034408935 | VDR | c.1245G= (p.Thr415=) c.*1247G= (n.*1247G=) c.1395G= (p.Thr465=) c.1314G= (p.Thr438=) | |
12 | g.47844785C>G | CA6533721 | VDR | c.1245G>C (p.Thr415=) c.*1247G>C (n.*1247G>C) c.1395G>C (p.Thr465=) c.1314G>C (p.Thr438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844785C>T | CA6533719 | VDR | c.1245G>A (p.Thr415=) c.*1247G>A (n.*1247G>A) c.1395G>A (p.Thr465=) c.1314G>A (p.Thr438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844786G>A | CA384513708 | VDR | c.1244C>T (p.Thr415Met) c.*1246C>T (n.*1246C>T) c.1394C>T (p.Thr465Met) c.1313C>T (p.Thr438Met) | |
12 | g.47844786G>C | CA6533722 | VDR | c.1244C>G (p.Thr415Arg) c.*1246C>G (n.*1246C>G) c.1394C>G (p.Thr465Arg) c.1313C>G (p.Thr438Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844786G= | CA2034408936 | VDR | c.1244C= (p.Thr415=) c.*1246C= (n.*1246C=) c.1394C= (p.Thr465=) c.1313C= (p.Thr438=) | |
12 | g.47844786G>T | CA384513715 | VDR | c.1244C>A (p.Thr415Lys) c.*1246C>A (n.*1246C>A) c.1394C>A (p.Thr465Lys) c.1313C>A (p.Thr438Lys) | |
12 | g.47844787T>A | CA384513717 | VDR | c.1243A>T (p.Thr415Ser) c.*1245A>T (n.*1245A>T) c.1393A>T (p.Thr465Ser) c.1312A>T (p.Thr438Ser) | |
12 | g.47844787T>C | CA384513720 | VDR | c.1243A>G (p.Thr415Ala) c.*1245A>G (n.*1245A>G) c.1393A>G (p.Thr465Ala) c.1312A>G (p.Thr438Ala) | |
12 | g.47844787T>G | CA384513721 | VDR | c.1243A>C (p.Thr415Pro) c.*1245A>C (n.*1245A>C) c.1393A>C (p.Thr465Pro) c.1312A>C (p.Thr438Pro) | |
12 | g.47844788T>A | CA479696452 | VDR | c.1242A>T (p.Leu414=) c.*1244A>T (n.*1244A>T) c.1392A>T (p.Leu464=) c.1311A>T (p.Leu437=) | |
12 | g.47844788T>C | CA479696453 | VDR | c.1242A>G (p.Leu414=) c.*1244A>G (n.*1244A>G) c.1392A>G (p.Leu464=) c.1311A>G (p.Leu437=) | |
12 | g.47844788T>G | CA479696454 | VDR | c.1242A>C (p.Leu414=) c.*1244A>C (n.*1244A>C) c.1392A>C (p.Leu464=) c.1311A>C (p.Leu437=) | ClinVar |
12 | g.47844789A>C | CA384513722 | VDR | c.1241T>G (p.Leu414Arg) c.*1243T>G (n.*1243T>G) c.1391T>G (p.Leu464Arg) c.1310T>G (p.Leu437Arg) | |
12 | g.47844789A>G | CA384513724 | VDR | c.1241T>C (p.Leu414Pro) c.*1243T>C (n.*1243T>C) c.1391T>C (p.Leu464Pro) c.1310T>C (p.Leu437Pro) | |
12 | g.47844789A>T | CA384513723 | VDR | c.1241T>A (p.Leu414Gln) c.*1243T>A (n.*1243T>A) c.1391T>A (p.Leu464Gln) c.1310T>A (p.Leu437Gln) | |
12 | g.47844790G>A | CA479696455 | VDR | c.1240C>T (p.Leu414=) c.*1242C>T (n.*1242C>T) c.1390C>T (p.Leu464=) c.1309C>T (p.Leu437=) | |
12 | g.47844790G>C | CA384513726 | VDR | c.1240C>G (p.Leu414Val) c.*1242C>G (n.*1242C>G) c.1390C>G (p.Leu464Val) c.1309C>G (p.Leu437Val) | |
12 | g.47844790G>T | CA384513728 | VDR | c.1240C>A (p.Leu414Ile) c.*1242C>A (n.*1242C>A) c.1390C>A (p.Leu464Ile) c.1309C>A (p.Leu437Ile) | |
12 | g.47844791C>A | CA384513730 | VDR | c.1239G>T (p.Lys413Asn) c.*1241G>T (n.*1241G>T) c.1389G>T (p.Lys463Asn) c.1308G>T (p.Lys436Asn) | |
12 | g.47844791C>G | CA384513732 | VDR | c.1239G>C (p.Lys413Asn) c.*1241G>C (n.*1241G>C) c.1389G>C (p.Lys463Asn) c.1308G>C (p.Lys436Asn) | |
12 | g.47844791C>T | CA479696456 | VDR | c.1239G>A (p.Lys413=) c.*1241G>A (n.*1241G>A) c.1389G>A (p.Lys463=) c.1308G>A (p.Lys436=) | gnomAD v4 COSMIC COSMIC |
12 | g.47844791_47844792delinsCT | CA2034408937 | VDR | c.1238_1239delinsAG (p.Lys413=) c.*1240_*1241delinsAG (n.*1240_*1241delinsAG) c.1388_1389delinsAG (p.Lys463=) c.1307_1308delinsAG (p.Lys436=) | |
12 | g.47844792T>A | CA384513736 | VDR | c.1238A>T (p.Lys413Met) c.*1240A>T (n.*1240A>T) c.1388A>T (p.Lys463Met) c.1307A>T (p.Lys436Met) | |
12 | g.47844792T>C | CA384513738 | VDR | c.1238A>G (p.Lys413Arg) c.*1240A>G (n.*1240A>G) c.1388A>G (p.Lys463Arg) c.1307A>G (p.Lys436Arg) | |
12 | g.47844792T>G | CA384513740 | VDR | c.1238A>C (p.Lys413Thr) c.*1240A>C (n.*1240A>C) c.1388A>C (p.Lys463Thr) c.1307A>C (p.Lys436Thr) | |
12 | g.47844793dup | CA2034408938 | VDR | c.1238dup (p.Leu414AlafsTer12) c.*1240dup (n.*1240dup) c.1388dup (p.Leu464AlafsTer12) c.1307dup (p.Leu437AlafsTer12) | dbSNP |
12 | g.47844793del | CA6533723 | VDR | c.1238del (p.Lys413SerfsTer2) c.*1240del (n.*1240del) c.1388del (p.Lys463SerfsTer2) c.1307del (p.Lys436SerfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844793T>A | CA384513750 | VDR | c.1237A>T (p.Lys413Ter) c.*1239A>T (n.*1239A>T) c.1387A>T (p.Lys463Ter) c.1306A>T (p.Lys436Ter) | |
12 | g.47844793T>C | CA384513753 | VDR | c.1237A>G (p.Lys413Glu) c.*1239A>G (n.*1239A>G) c.1387A>G (p.Lys463Glu) c.1306A>G (p.Lys436Glu) | |
12 | g.47844793T>G | CA384513754 | VDR | c.1237A>C (p.Lys413Gln) c.*1239A>C (n.*1239A>C) c.1387A>C (p.Lys463Gln) c.1306A>C (p.Lys436Gln) | |
12 | g.47844794C>A | CA384513757 | VDR | c.1236G>T (p.Met412Ile) c.*1238G>T (n.*1238G>T) c.1386G>T (p.Met462Ile) c.1305G>T (p.Met435Ile) | |
12 | g.47844794C>G | CA384513760 | VDR | c.1236G>C (p.Met412Ile) c.*1238G>C (n.*1238G>C) c.1386G>C (p.Met462Ile) c.1305G>C (p.Met435Ile) | |
12 | g.47844794C>T | CA384513758 | VDR | c.1236G>A (p.Met412Ile) c.*1238G>A (n.*1238G>A) c.1386G>A (p.Met462Ile) c.1305G>A (p.Met435Ile) | COSMIC COSMIC |
12 | g.47844795A= | CA2034408939 | VDR | c.1235T= (p.Met412=) c.*1237T= (n.*1237T=) c.1385T= (p.Met462=) c.1304T= (p.Met435=) | |
12 | g.47844795A>C | CA384513763 | VDR | c.1235T>G (p.Met412Arg) c.*1237T>G (n.*1237T>G) c.1385T>G (p.Met462Arg) c.1304T>G (p.Met435Arg) | |
12 | g.47844795A>G | CA236506020 | VDR | c.1235T>C (p.Met412Thr) c.*1237T>C (n.*1237T>C) c.1385T>C (p.Met462Thr) c.1304T>C (p.Met435Thr) | dbSNP gnomAD v4 |
12 | g.47844795A>T | CA384513766 | VDR | c.1235T>A (p.Met412Lys) c.*1237T>A (n.*1237T>A) c.1385T>A (p.Met462Lys) c.1304T>A (p.Met435Lys) | gnomAD v4 |
12 | g.47844796T>A | CA384513767 | VDR | c.1234A>T (p.Met412Leu) c.*1236A>T (n.*1236A>T) c.1384A>T (p.Met462Leu) c.1303A>T (p.Met435Leu) | |
12 | g.47844796T>C | CA384513768 | VDR | c.1234A>G (p.Met412Val) c.*1236A>G (n.*1236A>G) c.1384A>G (p.Met462Val) c.1303A>G (p.Met435Val) | |
12 | g.47844796T>G | CA384513769 | VDR | c.1234A>C (p.Met412Leu) c.*1236A>C (n.*1236A>C) c.1384A>C (p.Met462Leu) c.1303A>C (p.Met435Leu) | |
12 | g.47844797G>A | CA479696457 | VDR | c.1233C>T (p.Ser411=) c.*1235C>T (n.*1235C>T) c.1383C>T (p.Ser461=) c.1302C>T (p.Ser434=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.47844797G>C | CA384513771 | VDR | c.1233C>G (p.Ser411Arg) c.*1235C>G (n.*1235C>G) c.1383C>G (p.Ser461Arg) c.1302C>G (p.Ser434Arg) | |
12 | g.47844797G= | CA2034408940 | VDR | c.1233C= (p.Ser411=) c.*1235C= (n.*1235C=) c.1383C= (p.Ser461=) c.1302C= (p.Ser434=) | |
12 | g.47844797G>T | CA384513772 | VDR | c.1233C>A (p.Ser411Arg) c.*1235C>A (n.*1235C>A) c.1383C>A (p.Ser461Arg) c.1302C>A (p.Ser434Arg) | |
12 | g.47844798C>A | CA384513778 | VDR | c.1232G>T (p.Ser411Ile) c.*1234G>T (n.*1234G>T) c.1382G>T (p.Ser461Ile) c.1301G>T (p.Ser434Ile) | |
12 | g.47844798C>G | CA384513781 | VDR | c.1232G>C (p.Ser411Thr) c.*1234G>C (n.*1234G>C) c.1382G>C (p.Ser461Thr) c.1301G>C (p.Ser434Thr) | |
12 | g.47844798C>T | CA384513784 | VDR | c.1232G>A (p.Ser411Asn) c.*1234G>A (n.*1234G>A) c.1382G>A (p.Ser461Asn) c.1301G>A (p.Ser434Asn) | |
12 | g.47844799T>A | CA384513791 | VDR | c.1231A>T (p.Ser411Cys) c.*1233A>T (n.*1233A>T) c.1381A>T (p.Ser461Cys) c.1300A>T (p.Ser434Cys) | |
12 | g.47844799T>C | CA384513789 | VDR | c.1231A>G (p.Ser411Gly) c.*1233A>G (n.*1233A>G) c.1381A>G (p.Ser461Gly) c.1300A>G (p.Ser434Gly) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.47844799T>G | CA384513786 | VDR | c.1231A>C (p.Ser411Arg) c.*1233A>C (n.*1233A>C) c.1381A>C (p.Ser461Arg) c.1300A>C (p.Ser434Arg) |