Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47844080_47844853delCA2697559199VDRc.1181_*469del (n.[c.1181_*469del;Asn394ThrfsTer?])
c.1181_*670del (n.[c.1181_*670del;Asn394ThrfsTer?])
c.1331_*670del (n.[c.1331_*670del;Asn444ThrfsTer?])
 ClinVar
12g.47844673G=CA2034408879VDRc.1357C= (p.Leu453=)
c.*73C= (n.*73C=)
c.*1359C= (n.*1359C=)
12g.47844673G>TCA236505898VDRc.1357C>A (p.Leu453Ile)
c.*73C>A (n.*73C>A)
c.*1359C>A (n.*1359C>A)
 dbSNP gnomAD v3 gnomAD v4
12g.47844674C>TCA2618496769VDRc.1356G>A (p.Arg452=)
c.*72G>A (n.*72G>A)
c.*1358G>A (n.*1358G>A)
 gnomAD v4
12g.47844675C=CA2034408880VDRc.1355G= (p.Arg452=)
c.*71G= (n.*71G=)
c.*1357G= (n.*1357G=)
12g.47844675C>TCA236505902VDRc.1355G>A (p.Arg452Gln)
c.*71G>A (n.*71G>A)
c.*1357G>A (n.*1357G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47844676G>ACA10632865VDRc.1354C>T (p.Arg452Trp)
c.*70C>T (n.*70C>T)
c.*1356C>T (n.*1356C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.47844676G=CA2034408881VDRc.1354C= (p.Arg452=)
c.*70C= (n.*70C=)
c.*1356C= (n.*1356C=)
12g.47844676G>TCA2618496783VDRc.1354C>A (p.Arg452=)
c.*70C>A (n.*70C>A)
c.*1356C>A (n.*1356C>A)
 gnomAD v4
12g.47844678C=CA2034408882VDRc.1352G= (p.Trp451=)
c.*68G= (n.*68G=)
c.*1354G= (n.*1354G=)
12g.47844678C>TCA236505908VDRc.1352G>A (p.Trp451Ter)
c.*68G>A (n.*68G>A)
c.*1354G>A (n.*1354G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.47844685_47844717delCA2795861924VDRc.1320_1352del (p.Cys440_Gly450del)
c.*36_*68del (n.*36_*68del)
c.*1322_*1354del (n.*1322_*1354del)
12g.47844680G>TCA2618496786VDRc.1350C>A (p.Gly450=)
c.*66C>A (n.*66C>A)
c.*1352C>A (n.*1352C>A)
 gnomAD v4
12g.47844681C>ACA2618496788VDRc.1349G>T (p.Gly450Val)
c.*65G>T (n.*65G>T)
c.*1351G>T (n.*1351G>T)
 gnomAD v4
12g.47844681C>GCA2575136863VDRc.1349G>C (p.Gly450Ala)
c.*65G>C (n.*65G>C)
c.*1351G>C (n.*1351G>C)
12g.47844681C>TCA2618496790VDRc.1349G>A (p.Gly450Asp)
c.*65G>A (n.*65G>A)
c.*1351G>A (n.*1351G>A)
 gnomAD v4
12g.47844682C>ACA2618496794VDRc.1348G>T (p.Gly450Cys)
c.*64G>T (n.*64G>T)
c.*1350G>T (n.*1350G>T)
 gnomAD v4
12g.47844684C>ACA2618496797VDRc.1346G>T (p.Arg449Leu)
c.*62G>T (n.*62G>T)
c.*1348G>T (n.*1348G>T)
 gnomAD v4
12g.47844684C=CA2034408883VDRc.1346G= (p.Arg449=)
c.*62G= (n.*62G=)
c.*1348G= (n.*1348G=)
12g.47844684C>GCA605231297VDRc.1346G>C (p.Arg449Pro)
c.*62G>C (n.*62G>C)
c.*1348G>C (n.*1348G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47844684C>TCA605231298VDRc.1346G>A (p.Arg449Gln)
c.*62G>A (n.*62G>A)
c.*1348G>A (n.*1348G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47844685G>ACA236505909VDRc.1345C>T (p.Arg449Trp)
c.*61C>T (n.*61C>T)
c.*1347C>T (n.*1347C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47844685G>CCA689460100VDRc.1345C>G (p.Arg449Gly)
c.*61C>G (n.*61C>G)
c.*1347C>G (n.*1347C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.47844685G=CA2034408884VDRc.1345C= (p.Arg449=)
c.*61C= (n.*61C=)
c.*1347C= (n.*1347C=)
12g.47844685G>TCA2795861934VDRc.1345C>A (p.Arg449=)
c.*61C>A (n.*61C>A)
c.*1347C>A (n.*1347C>A)
12g.47844686G>ACA689460102VDRc.1344C>T (p.Ala448=)
c.*60C>T (n.*60C>T)
c.*1346C>T (n.*1346C>T)
 dbSNP
12g.47844686G>CCA2618496815VDRc.1344C>G (p.Ala448=)
c.*60C>G (n.*60C>G)
c.*1346C>G (n.*1346C>G)
 gnomAD v4
12g.47844686G=CA2034408885VDRc.1344C= (p.Ala448=)
c.*60C= (n.*60C=)
c.*1346C= (n.*1346C=)
12g.47844687G>ACA605231300VDRc.1343C>T (p.Ala448Val)
c.*59C>T (n.*59C>T)
c.*1345C>T (n.*1345C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47844687G=CA2034408886VDRc.1343C= (p.Ala448=)
c.*59C= (n.*59C=)
c.*1345C= (n.*1345C=)
12g.47844688C>GCA2575136864VDRc.1342G>C (p.Ala448Pro)
c.*58G>C (n.*58G>C)
c.*1344G>C (n.*1344G>C)
12g.47844688C>TCA2572487726VDRc.1342G>A (p.Ala448Thr)
c.*58G>A (n.*58G>A)
c.*1344G>A (n.*1344G>A)
12g.47844693_47844705delCA2543999765VDRc.1330_1342del (p.Ala444ProfsTer?)
c.*46_*58del (n.*46_*58del)
c.*1332_*1344del (n.*1332_*1344del)
 gnomAD v4
12g.47844690delCA2795861936VDRc.1340del (p.Gln447ArgfsTer?)
c.*56del (n.*56del)
c.*1342del (n.*1342del)
12g.47844691G>ACA2618496829VDRc.1339C>T (p.Gln447Ter)
c.*55C>T (n.*55C>T)
c.*1341C>T (n.*1341C>T)
 gnomAD v4
12g.47844691G>TCA2618496833VDRc.1339C>A (p.Gln447Lys)
c.*55C>A (n.*55C>A)
c.*1341C>A (n.*1341C>A)
 gnomAD v4
12g.47844692G>CCA2618496836VDRc.1338C>G (p.Cys446Trp)
c.*54C>G (n.*54C>G)
c.*1340C>G (n.*1340C>G)
 gnomAD v4
12g.47844693C>ACA2034408888VDRc.1337G>T (p.Cys446Phe)
c.*53G>T (n.*53G>T)
c.*1339G>T (n.*1339G>T)
 dbSNP gnomAD v4
12g.47844693C=CA2034408887VDRc.1337G= (p.Cys446=)
c.*53G= (n.*53G=)
c.*1339G= (n.*1339G=)
12g.47844693C>TCA2575136865VDRc.1337G>A (p.Cys446Tyr)
c.*53G>A (n.*53G>A)
c.*1339G>A (n.*1339G>A)
 gnomAD v4
12g.47844694A>GCA2575136866VDRc.1336T>C (p.Cys446Arg)
c.*52T>C (n.*52T>C)
c.*1338T>C (n.*1338T>C)
12g.47844695C>ACA2618496846VDRc.1335G>T (p.Thr445=)
c.*51G>T (n.*51G>T)
c.*1337G>T (n.*1337G>T)
 gnomAD v4
12g.47844695C=CA2034408889VDRc.1335G= (p.Thr445=)
c.*51G= (n.*51G=)
c.*1337G= (n.*1337G=)
12g.47844695C>TCA6533703VDRc.1335G>A (p.Thr445=)
c.*51G>A (n.*51G>A)
c.*1337G>A (n.*1337G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47844696G>ACA236505919VDRc.1334C>T (p.Thr445Met)
c.*50C>T (n.*50C>T)
c.*1336C>T (n.*1336C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47844696G>CCA689460118VDRc.1334C>G (p.Thr445Arg)
c.*50C>G (n.*50C>G)
c.*1336C>G (n.*1336C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.47844696G=CA2034408890VDRc.1334C= (p.Thr445=)
c.*50C= (n.*50C=)
c.*1336C= (n.*1336C=)
12g.47844697T>CCA2618496885VDRc.1333A>G (p.Thr445Ala)
c.*49A>G (n.*49A>G)
c.*1335A>G (n.*1335A>G)
 gnomAD v4
12g.47844697T>GCA2034408892VDRc.1333A>C (p.Thr445Pro)
c.*49A>C (n.*49A>C)
c.*1335A>C (n.*1335A>C)
 dbSNP
12g.47844697T=CA2034408891VDRc.1333A= (p.Thr445=)
c.*49A= (n.*49A=)
c.*1335A= (n.*1335A=)
12g.47844699G>ACA605231301VDRc.1331C>T (p.Ala444Val)
c.*47C>T (n.*47C>T)
c.*1333C>T (n.*1333C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47844699G>CCA2034408893VDRc.1331C>G (p.Ala444Gly)
c.*47C>G (n.*47C>G)
c.*1333C>G (n.*1333C>G)
 dbSNP
12g.47844699G=CA2034408894VDRc.1331C= (p.Ala444=)
c.*47C= (n.*47C=)
c.*1333C= (n.*1333C=)
12g.47844699G>TCA2618496886VDRc.1331C>A (p.Ala444Asp)
c.*47C>A (n.*47C>A)
c.*1333C>A (n.*1333C>A)
 gnomAD v4
12g.47844700C=CA2034408895VDRc.1330G= (p.Ala444=)
c.*46G= (n.*46G=)
c.*1332G= (n.*1332G=)
12g.47844700C>TCA605231302VDRc.1330G>A (p.Ala444Thr)
c.*46G>A (n.*46G>A)
c.*1332G>A (n.*1332G>A)
 dbSNP gnomAD v2
12g.47844702C>TCA2618496889VDRc.1328G>A (p.Arg443Lys)
c.*44G>A (n.*44G>A)
c.*1330G>A (n.*1330G>A)
 gnomAD v4
12g.47844703T>ACA605231303VDRc.1327A>T (p.Arg443Trp)
c.*43A>T (n.*43A>T)
c.*1329A>T (n.*1329A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47844703T>GCA2575136867VDRc.1327A>C (p.Arg443=)
c.*43A>C (n.*43A>C)
c.*1329A>C (n.*1329A>C)
12g.47844703T=CA2034408896VDRc.1327A= (p.Arg443=)
c.*43A= (n.*43A=)
c.*1329A= (n.*1329A=)
12g.47844704G>TCA2575136868VDRc.1326C>A (p.Ser442=)
c.*42C>A (n.*42C>A)
c.*1328C>A (n.*1328C>A)
12g.47844705G=CA2034408897VDRc.1325C= (p.Ser442=)
c.*41C= (n.*41C=)
c.*1327C= (n.*1327C=)
12g.47844705G>TCA6533704VDRc.1325C>A (p.Ser442Tyr)
c.*41C>A (n.*41C>A)
c.*1327C>A (n.*1327C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47844706A=CA2034408898VDRc.1324T= (p.Ser442=)
c.*40T= (n.*40T=)
c.*1326T= (n.*1326T=)
12g.47844706A>CCA605231304VDRc.1324T>G (p.Ser442Ala)
c.*40T>G (n.*40T>G)
c.*1326T>G (n.*1326T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47844707G>ACA605231305VDRc.1323C>T (p.Ser441=)
c.*39C>T (n.*39C>T)
c.*1325C>T (n.*1325C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47844707G=CA2034408899VDRc.1323C= (p.Ser441=)
c.*39C= (n.*39C=)
c.*1325C= (n.*1325C=)
12g.47844708G>ACA2618496898VDRc.1322C>T (p.Ser441Phe)
c.*38C>T (n.*38C>T)
c.*1324C>T (n.*1324C>T)
 gnomAD v4
12g.47844710G>ACA605231306VDRc.1320C>T (p.Cys440=)
c.*36C>T (n.*36C>T)
c.*1322C>T (n.*1322C>T)
 gnomAD v2 gnomAD v4
12g.47844710_47844718delinsGCAGCCCCACA2034408900VDRc.1312_1320delinsTGGGGCTGC (p.Trp438=)
c.*28_*36delinsTGGGGCTGC (n.*28_*36delinsTGGGGCTGC)
c.*1314_*1322delinsTGGGGCTGC (n.*1314_*1322delinsTGGGGCTGC)
12g.47844711C>ACA236505928VDRc.1319G>T (p.Cys440Phe)
c.*35G>T (n.*35G>T)
c.*1321G>T (n.*1321G>T)
 dbSNP gnomAD v3 gnomAD v4
12g.47844711C=CA2034408901VDRc.1319G= (p.Cys440=)
c.*35G= (n.*35G=)
c.*1321G= (n.*1321G=)
12g.47844711C>TCA2618496903VDRc.1319G>A (p.Cys440Tyr)
c.*35G>A (n.*35G>A)
c.*1321G>A (n.*1321G>A)
 gnomAD v4
12g.47844712_47844719delCA6533705VDRc.1312_1319del (p.Trp438LeufsTer?)
c.*28_*35del (n.*28_*35del)
c.*1314_*1321del (n.*1314_*1321del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47844714C>GCA2618496928VDRc.1316G>C (p.Gly439Ala)
c.*32G>C (n.*32G>C)
c.*1318G>C (n.*1318G>C)
 gnomAD v4
12g.47844714C>TCA2618496932VDRc.1316G>A (p.Gly439Asp)
c.*32G>A (n.*32G>A)
c.*1318G>A (n.*1318G>A)
 gnomAD v4
12g.47844717delCA2618496923VDRc.1316del (p.Gly439AlafsTer?)
c.*32del (n.*32del)
c.*1318del (n.*1318del)
 gnomAD v4
12g.47844715C=CA2034408902VDRc.1315G= (p.Gly439=)
c.*31G= (n.*31G=)
c.*1317G= (n.*1317G=)
12g.47844715C>TCA2034408903VDRc.1315G>A (p.Gly439Ser)
c.*31G>A (n.*31G>A)
c.*1317G>A (n.*1317G>A)
 dbSNP
12g.47844716C=CA2034408904VDRc.1314G= (p.Trp438=)
c.*30G= (n.*30G=)
c.*1316G= (n.*1316G=)
12g.47844716C>TCA605231307VDRc.1314G>A (p.Trp438Ter)
c.*30G>A (n.*30G>A)
c.*1316G>A (n.*1316G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47844717C>TCA2618496938VDRc.1313G>A (p.Trp438Ter)
c.*29G>A (n.*29G>A)
c.*1315G>A (n.*1315G>A)
 gnomAD v4
12g.47844718A=CA2034408905VDRc.1312T= (p.Trp438=)
c.*28T= (n.*28T=)
c.*1314T= (n.*1314T=)
12g.47844718A>CCA2034408906VDRc.1312T>G (p.Trp438Gly)
c.*28T>G (n.*28T>G)
c.*1314T>G (n.*1314T>G)
 dbSNP gnomAD v4
12g.47844718A>GCA2575136869VDRc.1312T>C (p.Trp438Arg)
c.*28T>C (n.*28T>C)
c.*1314T>C (n.*1314T>C)
 gnomAD v4
12g.47844721delCA2618496944VDRc.1311del (p.Trp438GlyfsTer?)
c.*27del (n.*27del)
c.*1313del (n.*1313del)
 gnomAD v4
12g.47844720C=CA2034408907VDRc.1310G= (p.Gly437=)
c.*26G= (n.*26G=)
c.*1312G= (n.*1312G=)
12g.47844720C>TCA2034408908VDRc.1310G>A (p.Gly437Glu)
c.*26G>A (n.*26G>A)
c.*1312G>A (n.*1312G>A)
 dbSNP gnomAD v4
12g.47844721C=CA2034408909VDRc.1309G= (p.Gly437=)
c.*25G= (n.*25G=)
c.*1311G= (n.*1311G=)
12g.47844721C>TCA2034408910VDRc.1309G>A (p.Gly437Arg)
c.*25G>A (n.*25G>A)
c.*1311G>A (n.*1311G>A)
 dbSNP
12g.47844722A>GCA2618496951VDRc.1308T>C (p.Pro436=)
c.*24T>C (n.*24T>C)
c.*1310T>C (n.*1310T>C)
 gnomAD v4
12g.47844723G>CCA947336605VDRc.1307C>G (p.Pro436Arg)
c.*23C>G (n.*23C>G)
c.*1309C>G (n.*1309C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.47844723G=CA2034408911VDRc.1307C= (p.Pro436=)
c.*23C= (n.*23C=)
c.*1309C= (n.*1309C=)
12g.47844724delCA2537966908VDRc.1307del (p.Pro436LeufsTer?)
c.*23del (n.*23del)
c.*1309del (n.*1309del)
12g.47844724G>TCA2618496956VDRc.1306C>A (p.Pro436Thr)
c.*22C>A (n.*22C>A)
c.*1308C>A (n.*1308C>A)
 gnomAD v4
12g.47844725C>ACA2618496957VDRc.1305G>T (p.Val435=)
c.*21G>T (n.*21G>T)
c.*1307G>T (n.*1307G>T)
 gnomAD v4
12g.47844726_47844729delCA2503039086VDRc.1301_1304del (p.Ala434GlyfsTer?)
c.*17_*20del (n.*17_*20del)
c.*1303_*1306del (n.*1303_*1306del)
12g.47844727C>ACA605231308VDRc.1303G>T (p.Val435Leu)
c.*19G>T (n.*19G>T)
c.*1305G>T (n.*1305G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47844727C=CA2034408912VDRc.1303G= (p.Val435=)
c.*19G= (n.*19G=)
c.*1305G= (n.*1305G=)
12g.47844728C=CA2034408913VDRc.1302G= (p.Ala434=)
c.*18G= (n.*18G=)
c.*1304G= (n.*1304G=)
12g.47844728C>GCA2034408914VDRc.1302G>C (p.Ala434=)
c.*18G>C (n.*18G>C)
c.*1304G>C (n.*1304G>C)
 dbSNP
12g.47844728C>TCA6533706VDRc.1302G>A (p.Ala434=)
c.*18G>A (n.*18G>A)
c.*1304G>A (n.*1304G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47844729G>ACA6533707VDRc.1301C>T (p.Ala434Val)
c.*17C>T (n.*17C>T)
c.*1303C>T (n.*1303C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47844729G=CA2034408915VDRc.1301C= (p.Ala434=)
c.*17C= (n.*17C=)
c.*1303C= (n.*1303C=)
12g.47844730C=CA2034408916VDRc.1300G= (p.Ala434=)
c.*16G= (n.*16G=)
c.*1302G= (n.*1302G=)
12g.47844730C>GCA605231309VDRc.1300G>C (p.Ala434Pro)
c.*16G>C (n.*16G>C)
c.*1302G>C (n.*1302G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.47844730C>TCA6533708VDRc.1300G>A (p.Ala434Thr)
c.*16G>A (n.*16G>A)
c.*1302G>A (n.*1302G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47844731C=CA2034408917VDRc.1299G= (p.Val433=)
c.*15G= (n.*15G=)
c.*1301G= (n.*1301G=)
12g.47844731C>TCA6533709VDRc.1299G>A (p.Val433=)
c.*15G>A (n.*15G>A)
c.*1301G>A (n.*1301G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47844732A>GCA2618496978VDRc.1298T>C (p.Val433Ala)
c.*14T>C (n.*14T>C)
c.*1300T>C (n.*1300T>C)
 gnomAD v4
12g.47844733C=CA2034408918VDRc.1297G= (p.Val433=)
c.*13G= (n.*13G=)
c.*1299G= (n.*1299G=)
12g.47844733C>TCA605231311VDRc.1297G>A (p.Val433Met)
c.*13G>A (n.*13G>A)
c.*1299G>A (n.*1299G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.47844734A=CA2034408919VDRc.1296T= (p.Pro432=)
c.*12T= (n.*12T=)
c.*1298T= (n.*1298T=)
12g.47844734A>TCA947336611VDRc.1296T>A (p.Pro432=)
c.*12T>A (n.*12T>A)
c.*1298T>A (n.*1298T>A)
 dbSNP gnomAD v3 gnomAD v4
12g.47844734dupCA689460140VDRc.1296dup (p.Val433CysfsTer?)
c.*12dup (n.*12dup)
c.*1298dup (n.*1298dup)
 dbSNP gnomAD v3 gnomAD v4
12g.47844735G>ACA6533710VDRc.1295C>T (p.Pro432Leu)
c.*11C>T (n.*11C>T)
c.*1297C>T (n.*1297C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47844735G=CA2034408920VDRc.1295C= (p.Pro432=)
c.*11C= (n.*11C=)
c.*1297C= (n.*1297C=)
12g.47844735G>TCA2575136870VDRc.1295C>A (p.Pro432His)
c.*11C>A (n.*11C>A)
c.*1297C>A (n.*1297C>A)
12g.47844736G>ACA605231312VDRc.1294C>T (p.Pro432Ser)
c.*10C>T (n.*10C>T)
c.*1296C>T (n.*1296C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.47844736G=CA2034408921VDRc.1294C= (p.Pro432=)
c.*10C= (n.*10C=)
c.*1296C= (n.*1296C=)
12g.47844736G>TCA605231313VDRc.1294C>A (p.Pro432Thr)
c.*10C>A (n.*10C>A)
c.*1296C>A (n.*1296C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.47844738T>CCA6533711VDRc.1292A>G (p.Gln431Arg)
c.*8A>G (n.*8A>G)
c.*1294A>G (n.*1294A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47844738T=CA2034408922VDRc.1292A= (p.Gln431=)
c.*8A= (n.*8A=)
c.*1294A= (n.*1294A=)
12g.47844740T>CCA6533712VDRc.1290A>G (p.Gly430=)
c.*6A>G (n.*6A>G)
c.*1292A>G (n.*1292A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.47844740T=CA2034408923VDRc.1290A= (p.Gly430=)
c.*6A= (n.*6A=)
c.*1292A= (n.*1292A=)
12g.47844741C=CA2034408924VDRc.1289G= (p.Gly430=)
c.*5G= (n.*5G=)
c.*1291G= (n.*1291G=)
12g.47844741C>TCA6533713VDRc.1289G>A (p.Gly430Glu)
c.*5G>A (n.*5G>A)
c.*1291G>A (n.*1291G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.47844743T>CCA2575136871VDRc.1287A>G (p.Leu429=)
c.*3A>G (n.*3A>G)
c.*1289A>G (n.*1289A>G)
 gnomAD v4
12g.47844743T>GCA605231314VDRc.1287A>C (p.Leu429=)
c.*3A>C (n.*3A>C)
c.*1289A>C (n.*1289A>C)
 dbSNP gnomAD v2 gnomAD v4
12g.47844743T=CA2034408925VDRc.1287A= (p.Leu429=)
c.*3A= (n.*3A=)
c.*1289A= (n.*1289A=)
12g.47844745G>ACA6533714VDRc.1285C>T (p.Leu429=)
c.*1C>T (n.*1C>T)
c.*1287C>T (n.*1287C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.47844745G>CCA2575136872VDRc.1285C>G (p.Leu429Val)
c.*1C>G (n.*1C>G)
c.*1287C>G (n.*1287C>G)
12g.47844745G=CA2034408926VDRc.1285C= (p.Leu429=)
c.*1C= (n.*1C=)
c.*1287C= (n.*1287C=)
12g.47844746T>ACA384513511VDRc.1284A>T (p.Ter428Cys)
c.*1286A>T (n.*1286A>T)
c.1434A>T (p.Ter478Cys)
c.1353A>T (p.Ter451Cys)
12g.47844746T>CCA384513512VDRc.1284A>G (p.Ter428Trp)
c.*1286A>G (n.*1286A>G)
c.1434A>G (p.Ter478Trp)
c.1353A>G (p.Ter451Trp)
12g.47844746T>GCA384513513VDRc.1284A>C (p.Ter428Cys)
c.*1286A>C (n.*1286A>C)
c.1434A>C (p.Ter478Cys)
c.1353A>C (p.Ter451Cys)
12g.47844747C>ACA384513516VDRc.1283G>T (p.Ter428Leu)
c.*1285G>T (n.*1285G>T)
c.1433G>T (p.Ter478Leu)
c.1352G>T (p.Ter451Leu)
12g.47844747C>GCA384513514VDRc.1283G>C (p.Ter428Ser)
c.*1285G>C (n.*1285G>C)
c.1433G>C (p.Ter478Ser)
c.1352G>C (p.Ter451Ser)
12g.47844747C>TCA479696423VDRc.1283G>A (p.Ter428=)
c.*1285G>A (n.*1285G>A)
c.1433G>A (p.Ter478=)
c.1352G>A (p.Ter451=)
12g.47844748A>CCA384513518VDRc.1282T>G (p.Ter428Gly)
c.*1284T>G (n.*1284T>G)
c.1432T>G (p.Ter478Gly)
c.1351T>G (p.Ter451Gly)
12g.47844748A>GCA384513522VDRc.1282T>C (p.Ter428Arg)
c.*1284T>C (n.*1284T>C)
c.1432T>C (p.Ter478Arg)
c.1351T>C (p.Ter451Arg)
12g.47844748A>TCA384513523VDRc.1282T>A (p.Ter428Arg)
c.*1284T>A (n.*1284T>A)
c.1432T>A (p.Ter478Arg)
c.1351T>A (p.Ter451Arg)
12g.47844749G>ACA479696424VDRc.1281C>T (p.Ser427=)
c.*1283C>T (n.*1283C>T)
c.1431C>T (p.Ser477=)
c.1350C>T (p.Ser450=)
12g.47844749G>CCA479696427VDRc.1281C>G (p.Ser427=)
c.*1283C>G (n.*1283C>G)
c.1431C>G (p.Ser477=)
c.1350C>G (p.Ser450=)
12g.47844749G>TCA479696425VDRc.1281C>A (p.Ser427=)
c.*1283C>A (n.*1283C>A)
c.1431C>A (p.Ser477=)
c.1350C>A (p.Ser450=)
12g.47844750G>ACA384513526VDRc.1280C>T (p.Ser427Phe)
c.*1282C>T (n.*1282C>T)
c.1430C>T (p.Ser477Phe)
c.1349C>T (p.Ser450Phe)
12g.47844750G>CCA384513527VDRc.1280C>G (p.Ser427Cys)
c.*1282C>G (n.*1282C>G)
c.1430C>G (p.Ser477Cys)
c.1349C>G (p.Ser450Cys)
12g.47844750G>TCA384513528VDRc.1280C>A (p.Ser427Tyr)
c.*1282C>A (n.*1282C>A)
c.1430C>A (p.Ser477Tyr)
c.1349C>A (p.Ser450Tyr)
12g.47844751A=CA2034408927VDRc.1279T= (p.Ser427=)
c.*1281T= (n.*1281T=)
c.1429T= (p.Ser477=)
c.1348T= (p.Ser450=)
12g.47844751A>CCA236505968VDRc.1279T>G (p.Ser427Ala)
c.*1281T>G (n.*1281T>G)
c.1429T>G (p.Ser477Ala)
c.1348T>G (p.Ser450Ala)
 dbSNP
12g.47844751A>GCA384513530VDRc.1279T>C (p.Ser427Pro)
c.*1281T>C (n.*1281T>C)
c.1429T>C (p.Ser477Pro)
c.1348T>C (p.Ser450Pro)
12g.47844751A>TCA384513532VDRc.1279T>A (p.Ser427Thr)
c.*1281T>A (n.*1281T>A)
c.1429T>A (p.Ser477Thr)
c.1348T>A (p.Ser450Thr)
12g.47844752G>ACA479696431VDRc.1278C>T (p.Ile426=)
c.*1280C>T (n.*1280C>T)
c.1428C>T (p.Ile476=)
c.1347C>T (p.Ile449=)
12g.47844752G>CCA384513534VDRc.1278C>G (p.Ile426Met)
c.*1280C>G (n.*1280C>G)
c.1428C>G (p.Ile476Met)
c.1347C>G (p.Ile449Met)
12g.47844752G>TCA479696432VDRc.1278C>A (p.Ile426=)
c.*1280C>A (n.*1280C>A)
c.1428C>A (p.Ile476=)
c.1347C>A (p.Ile449=)
12g.47844753A>CCA384513535VDRc.1277T>G (p.Ile426Ser)
c.*1279T>G (n.*1279T>G)
c.1427T>G (p.Ile476Ser)
c.1346T>G (p.Ile449Ser)
12g.47844753A>GCA384513536VDRc.1277T>C (p.Ile426Thr)
c.*1279T>C (n.*1279T>C)
c.1427T>C (p.Ile476Thr)
c.1346T>C (p.Ile449Thr)
12g.47844753A>TCA384513537VDRc.1277T>A (p.Ile426Asn)
c.*1279T>A (n.*1279T>A)
c.1427T>A (p.Ile476Asn)
c.1346T>A (p.Ile449Asn)
12g.47844754T>ACA384513540VDRc.1276A>T (p.Ile426Phe)
c.*1278A>T (n.*1278A>T)
c.1426A>T (p.Ile476Phe)
c.1345A>T (p.Ile449Phe)
12g.47844754T>CCA384513541VDRc.1276A>G (p.Ile426Val)
c.*1278A>G (n.*1278A>G)
c.1426A>G (p.Ile476Val)
c.1345A>G (p.Ile449Val)
12g.47844754T>GCA384513538VDRc.1276A>C (p.Ile426Leu)
c.*1278A>C (n.*1278A>C)
c.1426A>C (p.Ile476Leu)
c.1345A>C (p.Ile449Leu)
12g.47844755C>ACA384513543VDRc.1275G>T (p.Glu425Asp)
c.*1277G>T (n.*1277G>T)
c.1425G>T (p.Glu475Asp)
c.1344G>T (p.Glu448Asp)
12g.47844755C>GCA384513542VDRc.1275G>C (p.Glu425Asp)
c.*1277G>C (n.*1277G>C)
c.1425G>C (p.Glu475Asp)
c.1344G>C (p.Glu448Asp)
12g.47844755C>TCA479696433VDRc.1275G>A (p.Glu425=)
c.*1277G>A (n.*1277G>A)
c.1425G>A (p.Glu475=)
c.1344G>A (p.Glu448=)
12g.47844756T>ACA384513545VDRc.1274A>T (p.Glu425Val)
c.*1276A>T (n.*1276A>T)
c.1424A>T (p.Glu475Val)
c.1343A>T (p.Glu448Val)
12g.47844756T>CCA384513546VDRc.1274A>G (p.Glu425Gly)
c.*1276A>G (n.*1276A>G)
c.1424A>G (p.Glu475Gly)
c.1343A>G (p.Glu448Gly)
12g.47844756T>GCA384513547VDRc.1274A>C (p.Glu425Ala)
c.*1276A>C (n.*1276A>C)
c.1424A>C (p.Glu475Ala)
c.1343A>C (p.Glu448Ala)
12g.47844757C>ACA384513551VDRc.1273G>T (p.Glu425Ter)
c.*1275G>T (n.*1275G>T)
c.1423G>T (p.Glu475Ter)
c.1342G>T (p.Glu448Ter)
12g.47844757C>GCA384513552VDRc.1273G>C (p.Glu425Gln)
c.*1275G>C (n.*1275G>C)
c.1423G>C (p.Glu475Gln)
c.1342G>C (p.Glu448Gln)
12g.47844757C>TCA384513555VDRc.1273G>A (p.Glu425Lys)
c.*1275G>A (n.*1275G>A)
c.1423G>A (p.Glu475Lys)
c.1342G>A (p.Glu448Lys)
 ClinVar gnomAD v4
12g.47844758A>CCA384513564VDRc.1272T>G (p.Asn424Lys)
c.*1274T>G (n.*1274T>G)
c.1422T>G (p.Asn474Lys)
c.1341T>G (p.Asn447Lys)
 gnomAD v3 gnomAD v4
12g.47844758A>GCA479696434VDRc.1272T>C (p.Asn424=)
c.*1274T>C (n.*1274T>C)
c.1422T>C (p.Asn474=)
c.1341T>C (p.Asn447=)
12g.47844758A>TCA384513562VDRc.1272T>A (p.Asn424Lys)
c.*1274T>A (n.*1274T>A)
c.1422T>A (p.Asn474Lys)
c.1341T>A (p.Asn447Lys)
12g.47844759T>ACA384513567VDRc.1271A>T (p.Asn424Ile)
c.*1273A>T (n.*1273A>T)
c.1421A>T (p.Asn474Ile)
c.1340A>T (p.Asn447Ile)
 COSMIC COSMIC
12g.47844759T>CCA384513570VDRc.1271A>G (p.Asn424Ser)
c.*1273A>G (n.*1273A>G)
c.1421A>G (p.Asn474Ser)
c.1340A>G (p.Asn447Ser)
12g.47844759T>GCA384513571VDRc.1271A>C (p.Asn424Thr)
c.*1273A>C (n.*1273A>C)
c.1421A>C (p.Asn474Thr)
c.1340A>C (p.Asn447Thr)
12g.47844760T>ACA384513574VDRc.1270A>T (p.Asn424Tyr)
c.*1272A>T (n.*1272A>T)
c.1420A>T (p.Asn474Tyr)
c.1339A>T (p.Asn447Tyr)
12g.47844760T>CCA6533715VDRc.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
12g.47844760T>GCA384513575VDRc.1270A>C (p.Asn424His)
c.*1272A>C (n.*1272A>C)
c.1420A>C (p.Asn474His)
c.1339A>C (p.Asn447His)
12g.47844760T=CA2034408928VDRc.1270A= (p.Asn424=)
c.*1272A= (n.*1272A=)
c.1420A= (p.Asn474=)
c.1339A= (p.Asn447=)
12g.47844761G>ACA479696435VDRc.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
12g.47844761G>CCA479696436VDRc.1269C>G (p.Gly423=)
c.*1271C>G (n.*1271C>G)
c.1419C>G (p.Gly473=)
c.1338C>G (p.Gly446=)
12g.47844761G=CA2034408929VDRc.1269C= (p.Gly423=)
c.*1271C= (n.*1271C=)
c.1419C= (p.Gly473=)
c.1338C= (p.Gly446=)
12g.47844761G>TCA479696437VDRc.1269C>A (p.Gly423=)
c.*1271C>A (n.*1271C>A)
c.1419C>A (p.Gly473=)
c.1338C>A (p.Gly446=)
12g.47844762C>ACA384513576VDRc.1268G>T (p.Gly423Val)
c.*1270G>T (n.*1270G>T)
c.1418G>T (p.Gly473Val)
c.1337G>T (p.Gly446Val)
12g.47844762C>GCA384513587VDRc.1268G>C (p.Gly423Ala)
c.*1270G>C (n.*1270G>C)
c.1418G>C (p.Gly473Ala)
c.1337G>C (p.Gly446Ala)
12g.47844762C>TCA384513579VDRc.1268G>A (p.Gly423Asp)
c.*1270G>A (n.*1270G>A)
c.1418G>A (p.Gly473Asp)
c.1337G>A (p.Gly446Asp)
12g.47844763C>ACA384513590VDRc.1267G>T (p.Gly423Cys)
c.*1269G>T (n.*1269G>T)
c.1417G>T (p.Gly473Cys)
c.1336G>T (p.Gly446Cys)
12g.47844763C>GCA384513591VDRc.1267G>C (p.Gly423Arg)
c.*1269G>C (n.*1269G>C)
c.1417G>C (p.Gly473Arg)
c.1336G>C (p.Gly446Arg)
12g.47844763C>TCA384513592VDRc.1267G>A (p.Gly423Ser)
c.*1269G>A (n.*1269G>A)
c.1417G>A (p.Gly473Ser)
c.1336G>A (p.Gly446Ser)
12g.47844764A>CCA384513593VDRc.1266T>G (p.Phe422Leu)
c.*1268T>G (n.*1268T>G)
c.1416T>G (p.Phe472Leu)
c.1335T>G (p.Phe445Leu)
12g.47844764A>GCA479696438VDRc.1266T>C (p.Phe422=)
c.*1268T>C (n.*1268T>C)
c.1416T>C (p.Phe472=)
c.1335T>C (p.Phe445=)
12g.47844764A>TCA384513594VDRc.1266T>A (p.Phe422Leu)
c.*1268T>A (n.*1268T>A)
c.1416T>A (p.Phe472Leu)
c.1335T>A (p.Phe445Leu)
12g.47844765A>CCA384513595VDRc.1265T>G (p.Phe422Cys)
c.*1267T>G (n.*1267T>G)
c.1415T>G (p.Phe472Cys)
c.1334T>G (p.Phe445Cys)
12g.47844765A>GCA384513596VDRc.1265T>C (p.Phe422Ser)
c.*1267T>C (n.*1267T>C)
c.1415T>C (p.Phe472Ser)
c.1334T>C (p.Phe445Ser)
12g.47844765A>TCA384513597VDRc.1265T>A (p.Phe422Tyr)
c.*1267T>A (n.*1267T>A)
c.1415T>A (p.Phe472Tyr)
c.1334T>A (p.Phe445Tyr)
12g.47844766A>CCA384513598VDRc.1264T>G (p.Phe422Val)
c.*1266T>G (n.*1266T>G)
c.1414T>G (p.Phe472Val)
c.1333T>G (p.Phe445Val)
12g.47844766A>GCA384513599VDRc.1264T>C (p.Phe422Leu)
c.*1266T>C (n.*1266T>C)
c.1414T>C (p.Phe472Leu)
c.1333T>C (p.Phe445Leu)
12g.47844766A>TCA384513600VDRc.1264T>A (p.Phe422Ile)
c.*1266T>A (n.*1266T>A)
c.1414T>A (p.Phe472Ile)
c.1333T>A (p.Phe445Ile)
12g.47844767C>ACA6533716VDRc.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
12g.47844767C=CA2034408930VDRc.1263G= (p.Val421=)
c.*1265G= (n.*1265G=)
c.1413G= (p.Val471=)
c.1332G= (p.Val444=)
12g.47844767C>GCA479696439VDRc.1263G>C (p.Val421=)
c.*1265G>C (n.*1265G>C)
c.1413G>C (p.Val471=)
c.1332G>C (p.Val444=)
12g.47844767C>TCA479696440VDRc.1263G>A (p.Val421=)
c.*1265G>A (n.*1265G>A)
c.1413G>A (p.Val471=)
c.1332G>A (p.Val444=)
 gnomAD v4
12g.47844768A>CCA384513603VDRc.1262T>G (p.Val421Gly)
c.*1264T>G (n.*1264T>G)
c.1412T>G (p.Val471Gly)
c.1331T>G (p.Val444Gly)
12g.47844768A>GCA384513601VDRc.1262T>C (p.Val421Ala)
c.*1264T>C (n.*1264T>C)
c.1412T>C (p.Val471Ala)
c.1331T>C (p.Val444Ala)
12g.47844768A>TCA384513602VDRc.1262T>A (p.Val421Glu)
c.*1264T>A (n.*1264T>A)
c.1412T>A (p.Val471Glu)
c.1331T>A (p.Val444Glu)
12g.47844769C>ACA384513609VDRc.1261G>T (p.Val421Leu)
c.*1263G>T (n.*1263G>T)
c.1411G>T (p.Val471Leu)
c.1330G>T (p.Val444Leu)
12g.47844769C>GCA384513610VDRc.1261G>C (p.Val421Leu)
c.*1263G>C (n.*1263G>C)
c.1411G>C (p.Val471Leu)
c.1330G>C (p.Val444Leu)
12g.47844769C>TCA384513615VDRc.1261G>A (p.Val421Met)
c.*1263G>A (n.*1263G>A)
c.1411G>A (p.Val471Met)
c.1330G>A (p.Val444Met)
12g.47844770T>ACA384513618VDRc.1260A>T (p.Glu420Asp)
c.*1262A>T (n.*1262A>T)
c.1410A>T (p.Glu470Asp)
c.1329A>T (p.Glu443Asp)
12g.47844770T>CCA479696441VDRc.1260A>G (p.Glu420=)
c.*1262A>G (n.*1262A>G)
c.1410A>G (p.Glu470=)
c.1329A>G (p.Glu443=)
12g.47844770T>GCA384513621VDRc.1260A>C (p.Glu420Asp)
c.*1262A>C (n.*1262A>C)
c.1410A>C (p.Glu470Asp)
c.1329A>C (p.Glu443Asp)
12g.47844771T>ACA384513622VDRc.1259A>T (p.Glu420Val)
c.*1261A>T (n.*1261A>T)
c.1409A>T (p.Glu470Val)
c.1328A>T (p.Glu443Val)
12g.47844771T>CCA384513624VDRc.1259A>G (p.Glu420Gly)
c.*1261A>G (n.*1261A>G)
c.1409A>G (p.Glu470Gly)
c.1328A>G (p.Glu443Gly)
12g.47844771T>GCA384513626VDRc.1259A>C (p.Glu420Ala)
c.*1261A>C (n.*1261A>C)
c.1409A>C (p.Glu470Ala)
c.1328A>C (p.Glu443Ala)

Number of alleles fetched