Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11106498_11114133delCA404079331LDLRc.953-67_1844+371del
c.695-67_1586+371del
c.695-67_1466+371del
c.949-67_1840+371del
c.314-894_1082+371del
c.572-67_1463+371del
c.314-67_1205+371del
n.845-67_1736+371del
n.812-67_1703+371del
 ClinVar
19g.11111514_11116998delCA10585283LDLRc.1319_2103del
c.1061_1705+786del
c.941_1725del
c.1061_1845del
c.1315_2099del
c.557_1341del
c.938_1722del
c.680_1464del
n.1211_1855+786del
n.1178_1962del
n.1178_1822+786del
19g.11113244_11120565delCA2695195458LDLRc.1445-34_2398+43del
c.1187-34_*209+43del
c.1067-34_2020+43del
c.1187-34_2140+43del
c.1441-34_2394+43del
c.683-34_1636+43del
c.1064-34_2017+43del
c.806-34_1606+332del
c.806-34_1759+43del
n.1337-34_2150+43del
n.1304-34_2300del
n.1304-34_2117+43del
19g.11113288_11123238delCA10585350LDLRc.1455_2463del
c.1197_*274del
c.1077_2085del
c.1197_2205del
c.1451_2459del
c.693_1701del
c.1074_2082del
c.816_1671del
c.816_1824del
n.1347_2215del
n.1314_2539del
n.1314_2182del
 ClinVar
19g.11113657_11113778delCA2573050601LDLRc.1739_1844+16del
c.1481_1586+16del
c.1361_1466+16del
c.1735_1840+16del
c.977_1082+16del
c.1358_1463+16del
c.1100_1205+16del
c.202_307+16del
n.1631_1736+16del
n.1598_1703+16del
19g.11113656_11116107delCA2497030066LDLRc.1738_1858del
c.1480_1600del
c.1360_1480del
c.1734_1854del
c.976_1096del
c.1357_1477del
c.1099_1219del
c.201_321del
n.1630_1750del
n.1597_1717del
19g.11113656_11116108delCA2573050600LDLRc.1738_1859del
c.1480_1601del
c.1360_1481del
c.1734_1855del
c.976_1097del
c.1357_1478del
c.1099_1220del
c.201_322del
n.1630_1751del
n.1597_1718del
19g.11113666_11113668delinsCTGCA2322771985LDLRc.1748_1750delinsCTG (p.Thr583=)
c.1490_1492delinsCTG (p.Thr497=)
c.1370_1372delinsCTG (p.Thr457=)
c.1744_1746delinsCTG
c.986_988delinsCTG (p.Thr329=)
c.1367_1369delinsCTG (p.Thr456=)
c.1109_1111delinsCTG (p.Thr370=)
c.211_213delinsCTG
n.1640_1642delinsCTG
n.1607_1609delinsCTG
19g.11113667delCA2695228115LDLRc.1749del (p.Val584SerfsTer9)
c.1491del (p.Val498SerfsTer9)
c.1371del (p.Val458SerfsTer9)
c.1745del
c.987del (p.Val330SerfsTer9)
c.1368del (p.Val457SerfsTer9)
c.1110del (p.Val371SerfsTer9)
c.212del
n.1641del
n.1608del
19g.11113667T>ACA505743273LDLRc.1749T>A (p.Thr583=)
c.1491T>A (p.Thr497=)
c.1371T>A (p.Thr457=)
c.1745T>A
c.987T>A (p.Thr329=)
c.1368T>A (p.Thr456=)
c.1110T>A (p.Thr370=)
c.212T>A
n.1641T>A
n.1608T>A
 dbSNP
19g.11113667T>CCA034496LDLRc.1749T>C (p.Thr583=)
c.1491T>C (p.Thr497=)
c.1371T>C (p.Thr457=)
c.1745T>C
c.987T>C (p.Thr329=)
c.1368T>C (p.Thr456=)
c.1110T>C (p.Thr370=)
c.212T>C
n.1641T>C
n.1608T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113667T>GCA505743274LDLRc.1749T>G (p.Thr583=)
c.1491T>G (p.Thr497=)
c.1371T>G (p.Thr457=)
c.1745T>G
c.987T>G (p.Thr329=)
c.1368T>G (p.Thr456=)
c.1110T>G (p.Thr370=)
c.212T>G
n.1641T>G
n.1608T>G
19g.11113667T=CA2322771986LDLRc.1749T= (p.Thr583=)
c.1491T= (p.Thr497=)
c.1371T= (p.Thr457=)
c.1745T=
c.987T= (p.Thr329=)
c.1368T= (p.Thr456=)
c.1110T= (p.Thr370=)
c.212T=
n.1641T=
n.1608T=
19g.11113668_11113669delCA1139666272LDLRc.1750_1751del (p.Val584LeufsTer?)
c.1492_1493del (p.Val498LeufsTer?)
c.1372_1373del (p.Val458LeufsTer?)
c.1746_1747del
c.988_989del (p.Val330LeufsTer?)
c.1369_1370del (p.Val457LeufsTer?)
c.1111_1112del (p.Val371LeufsTer?)
c.213_214del
n.1642_1643del
n.1609_1610del
 ClinVar dbSNP
19g.11113668G>ACA034518LDLRc.1750G>A (p.Val584Ile)
c.1492G>A (p.Val498Ile)
c.1372G>A (p.Val458Ile)
c.1746G>A
c.988G>A (p.Val330Ile)
c.1369G>A (p.Val457Ile)
c.1111G>A (p.Val371Ile)
c.213G>A
n.1642G>A
n.1609G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113668G>CCA404086398LDLRc.1750G>C (p.Val584Leu)
c.1492G>C (p.Val498Leu)
c.1372G>C (p.Val458Leu)
c.1746G>C
c.988G>C (p.Val330Leu)
c.1369G>C (p.Val457Leu)
c.1111G>C (p.Val371Leu)
c.213G>C
n.1642G>C
n.1609G>C
 ClinVar
19g.11113668G=CA2322771987LDLRc.1750G= (p.Val584=)
c.1492G= (p.Val498=)
c.1372G= (p.Val458=)
c.1746G=
c.988G= (p.Val330=)
c.1369G= (p.Val457=)
c.1111G= (p.Val371=)
c.213G=
n.1642G=
n.1609G=
19g.11113668G>TCA10585479LDLRc.1750G>T (p.Val584Phe)
c.1492G>T (p.Val498Phe)
c.1372G>T (p.Val458Phe)
c.1746G>T
c.988G>T (p.Val330Phe)
c.1369G>T (p.Val457Phe)
c.1111G>T (p.Val371Phe)
c.213G>T
n.1642G>T
n.1609G>T
 ClinVar dbSNP
19g.11113668_11113670delinsGTCCA2322771988LDLRc.1750_1752delinsGTC (p.Val584=)
c.1492_1494delinsGTC (p.Val498=)
c.1372_1374delinsGTC (p.Val458=)
c.1746_1748delinsGTC
c.988_990delinsGTC (p.Val330=)
c.1369_1371delinsGTC (p.Val457=)
c.1111_1113delinsGTC (p.Val371=)
c.213_215delinsGTC
n.1642_1644delinsGTC
n.1609_1611delinsGTC
19g.11113669T>ACA404086402LDLRc.1751T>A (p.Val584Asp)
c.1493T>A (p.Val498Asp)
c.1373T>A (p.Val458Asp)
c.1747T>A
c.989T>A (p.Val330Asp)
c.1370T>A (p.Val457Asp)
c.1112T>A (p.Val371Asp)
c.214T>A
n.1643T>A
n.1610T>A
19g.11113669T>CCA404086407LDLRc.1751T>C (p.Val584Ala)
c.1493T>C (p.Val498Ala)
c.1373T>C (p.Val458Ala)
c.1747T>C
c.989T>C (p.Val330Ala)
c.1370T>C (p.Val457Ala)
c.1112T>C (p.Val371Ala)
c.214T>C
n.1643T>C
n.1610T>C
19g.11113669T>GCA404086410LDLRc.1751T>G (p.Val584Gly)
c.1493T>G (p.Val498Gly)
c.1373T>G (p.Val458Gly)
c.1747T>G
c.989T>G (p.Val330Gly)
c.1370T>G (p.Val457Gly)
c.1112T>G (p.Val371Gly)
c.214T>G
n.1643T>G
n.1610T>G
19g.11113672_11113673delCA10585481LDLRc.1754_1755del (p.Ser585CysfsTer?)
c.1496_1497del (p.Ser499CysfsTer?)
c.1376_1377del (p.Ser459CysfsTer?)
c.1750_1751del
c.992_993del (p.Ser331CysfsTer?)
c.1373_1374del (p.Ser458CysfsTer?)
c.1115_1116del (p.Ser372CysfsTer?)
c.217_218del
n.1646_1647del
n.1613_1614del
 ClinVar dbSNP
19g.11113670C>ACA505743275LDLRc.1752C>A (p.Val584=)
c.1494C>A (p.Val498=)
c.1374C>A (p.Val458=)
c.1748C>A
c.990C>A (p.Val330=)
c.1371C>A (p.Val457=)
c.1113C>A (p.Val371=)
c.215C>A
n.1644C>A
n.1611C>A
19g.11113670C=CA2322771989LDLRc.1752C= (p.Val584=)
c.1494C= (p.Val498=)
c.1374C= (p.Val458=)
c.1748C=
c.990C= (p.Val330=)
c.1371C= (p.Val457=)
c.1113C= (p.Val371=)
c.215C=
n.1644C=
n.1611C=
19g.11113670C>GCA505743276LDLRc.1752C>G (p.Val584=)
c.1494C>G (p.Val498=)
c.1374C>G (p.Val458=)
c.1748C>G
c.990C>G (p.Val330=)
c.1371C>G (p.Val457=)
c.1113C>G (p.Val371=)
c.215C>G
n.1644C>G
n.1611C>G
 ClinVar dbSNP
19g.11113670C>TCA305300126LDLRc.1752C>T (p.Val584=)
c.1494C>T (p.Val498=)
c.1374C>T (p.Val458=)
c.1748C>T
c.990C>T (p.Val330=)
c.1371C>T (p.Val457=)
c.1113C>T (p.Val371=)
c.215C>T
n.1644C>T
n.1611C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11113671T>ACA404086414LDLRc.1753T>A (p.Ser585Thr)
c.1495T>A (p.Ser499Thr)
c.1375T>A (p.Ser459Thr)
c.1749T>A
c.991T>A (p.Ser331Thr)
c.1372T>A (p.Ser458Thr)
c.1114T>A (p.Ser372Thr)
c.216T>A
n.1645T>A
n.1612T>A
19g.11113671T>CCA10585480LDLRc.1753T>C (p.Ser585Pro)
c.1495T>C (p.Ser499Pro)
c.1375T>C (p.Ser459Pro)
c.1749T>C
c.991T>C (p.Ser331Pro)
c.1372T>C (p.Ser458Pro)
c.1114T>C (p.Ser372Pro)
c.216T>C
n.1645T>C
n.1612T>C
 ClinVar dbSNP
19g.11113671T>GCA404086417LDLRc.1753T>G (p.Ser585Ala)
c.1495T>G (p.Ser499Ala)
c.1375T>G (p.Ser459Ala)
c.1749T>G
c.991T>G (p.Ser331Ala)
c.1372T>G (p.Ser458Ala)
c.1114T>G (p.Ser372Ala)
c.216T>G
n.1645T>G
n.1612T>G
19g.11113671T=CA2322771990LDLRc.1753T= (p.Ser585=)
c.1495T= (p.Ser499=)
c.1375T= (p.Ser459=)
c.1749T=
c.991T= (p.Ser331=)
c.1372T= (p.Ser458=)
c.1114T= (p.Ser372=)
c.216T=
n.1645T=
n.1612T=
19g.11113672C>ACA404086421LDLRc.1754C>A (p.Ser585Tyr)
c.1496C>A (p.Ser499Tyr)
c.1376C>A (p.Ser459Tyr)
c.1750C>A
c.992C>A (p.Ser331Tyr)
c.1373C>A (p.Ser458Tyr)
c.1115C>A (p.Ser372Tyr)
c.217C>A
n.1646C>A
n.1613C>A
19g.11113672C=CA2322771991LDLRc.1754C= (p.Ser585=)
c.1496C= (p.Ser499=)
c.1376C= (p.Ser459=)
c.1750C=
c.992C= (p.Ser331=)
c.1373C= (p.Ser458=)
c.1115C= (p.Ser372=)
c.217C=
n.1646C=
n.1613C=
19g.11113672C>GCA034538LDLRc.1754C>G (p.Ser585Cys)
c.1496C>G (p.Ser499Cys)
c.1376C>G (p.Ser459Cys)
c.1750C>G
c.992C>G (p.Ser331Cys)
c.1373C>G (p.Ser458Cys)
c.1115C>G (p.Ser372Cys)
c.217C>G
n.1646C>G
n.1613C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113672C>TCA404086424LDLRc.1754C>T (p.Ser585Phe)
c.1496C>T (p.Ser499Phe)
c.1376C>T (p.Ser459Phe)
c.1750C>T
c.992C>T (p.Ser331Phe)
c.1373C>T (p.Ser458Phe)
c.1115C>T (p.Ser372Phe)
c.217C>T
n.1646C>T
n.1613C>T
19g.11113672_11113674delinsCTGCA2322771992LDLRc.1754_1756delinsCTG (p.Ser585=)
c.1496_1498delinsCTG (p.Ser499=)
c.1376_1378delinsCTG (p.Ser459=)
c.1750_1752delinsCTG
c.992_994delinsCTG (p.Ser331=)
c.1373_1375delinsCTG (p.Ser458=)
c.1115_1117delinsCTG (p.Ser372=)
c.217_219delinsCTG
n.1646_1648delinsCTG
n.1613_1615delinsCTG
19g.11113673T>ACA505743280LDLRc.1755T>A (p.Ser585=)
c.1497T>A (p.Ser499=)
c.1377T>A (p.Ser459=)
c.1751T>A
c.993T>A (p.Ser331=)
c.1374T>A (p.Ser458=)
c.1116T>A (p.Ser372=)
c.218T>A
n.1647T>A
n.1614T>A
19g.11113673T>CCA034562LDLRc.1755T>C (p.Ser585=)
c.1497T>C (p.Ser499=)
c.1377T>C (p.Ser459=)
c.1751T>C
c.993T>C (p.Ser331=)
c.1374T>C (p.Ser458=)
c.1116T>C (p.Ser372=)
c.218T>C
n.1647T>C
n.1614T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113673T>GCA505743279LDLRc.1755T>G (p.Ser585=)
c.1497T>G (p.Ser499=)
c.1377T>G (p.Ser459=)
c.1751T>G
c.993T>G (p.Ser331=)
c.1374T>G (p.Ser458=)
c.1116T>G (p.Ser372=)
c.218T>G
n.1647T>G
n.1614T>G
19g.11113673T=CA2322771993LDLRc.1755T= (p.Ser585=)
c.1497T= (p.Ser499=)
c.1377T= (p.Ser459=)
c.1751T=
c.993T= (p.Ser331=)
c.1374T= (p.Ser458=)
c.1116T= (p.Ser372=)
c.218T=
n.1647T=
n.1614T=
19g.11113674_11113675delCA10585482LDLRc.1756_1757del (p.Val586CysfsTer?)
c.1498_1499del (p.Val500CysfsTer?)
c.1378_1379del (p.Val460CysfsTer?)
c.1752_1753del
c.994_995del (p.Val332CysfsTer?)
c.1375_1376del (p.Val459CysfsTer?)
c.1117_1118del (p.Val373CysfsTer?)
c.219_220del
n.1648_1649del
n.1615_1616del
 ClinVar dbSNP
19g.11113674delCA2695228116LDLRc.1756del (p.Val586LeufsTer7)
c.1498del (p.Val500LeufsTer7)
c.1378del (p.Val460LeufsTer7)
c.1752del
c.994del (p.Val332LeufsTer7)
c.1375del (p.Val459LeufsTer7)
c.1117del (p.Val373LeufsTer7)
c.219del
n.1648del
n.1615del
19g.11113674G>ACA404086433LDLRc.1756G>A (p.Val586Ile)
c.1498G>A (p.Val500Ile)
c.1378G>A (p.Val460Ile)
c.1752G>A
c.994G>A (p.Val332Ile)
c.1375G>A (p.Val459Ile)
c.1117G>A (p.Val373Ile)
c.219G>A
n.1648G>A
n.1615G>A
19g.11113674G>CCA404086440LDLRc.1756G>C (p.Val586Leu)
c.1498G>C (p.Val500Leu)
c.1378G>C (p.Val460Leu)
c.1752G>C
c.994G>C (p.Val332Leu)
c.1375G>C (p.Val459Leu)
c.1117G>C (p.Val373Leu)
c.219G>C
n.1648G>C
n.1615G>C
19g.11113674G>TCA404086436LDLRc.1756G>T (p.Val586Phe)
c.1498G>T (p.Val500Phe)
c.1378G>T (p.Val460Phe)
c.1752G>T
c.994G>T (p.Val332Phe)
c.1375G>T (p.Val459Phe)
c.1117G>T (p.Val373Phe)
c.219G>T
n.1648G>T
n.1615G>T
19g.11113675T>ACA404086443LDLRc.1757T>A (p.Val586Asp)
c.1499T>A (p.Val500Asp)
c.1379T>A (p.Val460Asp)
c.1753T>A
c.995T>A (p.Val332Asp)
c.1376T>A (p.Val459Asp)
c.1118T>A (p.Val373Asp)
c.220T>A
n.1649T>A
n.1616T>A
19g.11113675T>CCA10588896LDLRc.1757T>C (p.Val586Ala)
c.1499T>C (p.Val500Ala)
c.1379T>C (p.Val460Ala)
c.1753T>C
c.995T>C (p.Val332Ala)
c.1376T>C (p.Val459Ala)
c.1118T>C (p.Val373Ala)
c.220T>C
n.1649T>C
n.1616T>C
 ClinVar dbSNP
19g.11113675T>GCA404086447LDLRc.1757T>G (p.Val586Gly)
c.1499T>G (p.Val500Gly)
c.1379T>G (p.Val460Gly)
c.1753T>G
c.995T>G (p.Val332Gly)
c.1376T>G (p.Val459Gly)
c.1118T>G (p.Val373Gly)
c.220T>G
n.1649T>G
n.1616T>G
19g.11113675T=CA2322771994LDLRc.1757T= (p.Val586=)
c.1499T= (p.Val500=)
c.1379T= (p.Val460=)
c.1753T=
c.995T= (p.Val332=)
c.1376T= (p.Val459=)
c.1118T= (p.Val373=)
c.220T=
n.1649T=
n.1616T=
19g.11113676T>ACA505743283LDLRc.1758T>A (p.Val586=)
c.1500T>A (p.Val500=)
c.1380T>A (p.Val460=)
c.1754T>A
c.996T>A (p.Val332=)
c.1377T>A (p.Val459=)
c.1119T>A (p.Val373=)
c.221T>A
n.1650T>A
n.1617T>A
 gnomAD v4

Number of alleles fetched