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.11113653_11113664delCA2695228182LDLRc.1735_1746del (p.Ser579_Gly582del)
c.1477_1488del (p.Ser493_Gly496del)
c.1357_1368del (p.Ser453_Gly456del)
c.1731_1742del
c.973_984del (p.Ser325_Gly328del)
c.1354_1365del (p.Ser452_Gly455del)
c.1096_1107del (p.Ser366_Gly369del)
c.198_209del
n.1627_1638del
n.1594_1605del
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.11113657T>ACA404086334LDLRc.1739T>A (p.Val580Asp)
c.1481T>A (p.Val494Asp)
c.1361T>A (p.Val454Asp)
c.1735T>A
c.977T>A (p.Val326Asp)
c.1358T>A (p.Val453Asp)
c.1100T>A (p.Val367Asp)
c.202T>A
n.1631T>A
n.1598T>A
19g.11113657T>CCA404086336LDLRc.1739T>C (p.Val580Ala)
c.1481T>C (p.Val494Ala)
c.1361T>C (p.Val454Ala)
c.1735T>C
c.977T>C (p.Val326Ala)
c.1358T>C (p.Val453Ala)
c.1100T>C (p.Val367Ala)
c.202T>C
n.1631T>C
n.1598T>C
19g.11113657T>GCA404086338LDLRc.1739T>G (p.Val580Gly)
c.1481T>G (p.Val494Gly)
c.1361T>G (p.Val454Gly)
c.1735T>G
c.977T>G (p.Val326Gly)
c.1358T>G (p.Val453Gly)
c.1100T>G (p.Val367Gly)
c.202T>G
n.1631T>G
n.1598T>G
19g.11113658C>ACA505743259LDLRc.1740C>A (p.Val580=)
c.1482C>A (p.Val494=)
c.1362C>A (p.Val454=)
c.1736C>A
c.978C>A (p.Val326=)
c.1359C>A (p.Val453=)
c.1101C>A (p.Val367=)
c.203C>A
n.1632C>A
n.1599C>A
19g.11113658C=CA2322771976LDLRc.1740C= (p.Val580=)
c.1482C= (p.Val494=)
c.1362C= (p.Val454=)
c.1736C=
c.978C= (p.Val326=)
c.1359C= (p.Val453=)
c.1101C= (p.Val367=)
c.203C=
n.1632C=
n.1599C=
19g.11113658C>GCA034482LDLRc.1740C>G (p.Val580=)
c.1482C>G (p.Val494=)
c.1362C>G (p.Val454=)
c.1736C>G
c.978C>G (p.Val326=)
c.1359C>G (p.Val453=)
c.1101C>G (p.Val367=)
c.203C>G
n.1632C>G
n.1599C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113658C>TCA505743257LDLRc.1740C>T (p.Val580=)
c.1482C>T (p.Val494=)
c.1362C>T (p.Val454=)
c.1736C>T
c.978C>T (p.Val326=)
c.1359C>T (p.Val453=)
c.1101C>T (p.Val367=)
c.203C>T
n.1632C>T
n.1599C>T
19g.11113659C>ACA404086344LDLRc.1741C>A (p.Leu581Met)
c.1483C>A (p.Leu495Met)
c.1363C>A (p.Leu455Met)
c.1737C>A
c.979C>A (p.Leu327Met)
c.1360C>A (p.Leu454Met)
c.1102C>A (p.Leu368Met)
c.204C>A
n.1633C>A
n.1600C>A
19g.11113659C=CA2322771977LDLRc.1741C= (p.Leu581=)
c.1483C= (p.Leu495=)
c.1363C= (p.Leu455=)
c.1737C=
c.979C= (p.Leu327=)
c.1360C= (p.Leu454=)
c.1102C= (p.Leu368=)
c.204C=
n.1633C=
n.1600C=
19g.11113659C>GCA404086346LDLRc.1741C>G (p.Leu581Val)
c.1483C>G (p.Leu495Val)
c.1363C>G (p.Leu455Val)
c.1737C>G
c.979C>G (p.Leu327Val)
c.1360C>G (p.Leu454Val)
c.1102C>G (p.Leu368Val)
c.204C>G
n.1633C>G
n.1600C>G
 dbSNP gnomAD v4
19g.11113659C>TCA505743264LDLRc.1741C>T (p.Leu581=)
c.1483C>T (p.Leu495=)
c.1363C>T (p.Leu455=)
c.1737C>T
c.979C>T (p.Leu327=)
c.1360C>T (p.Leu454=)
c.1102C>T (p.Leu368=)
c.204C>T
n.1633C>T
n.1600C>T
 ClinVar dbSNP
19g.11113660T>ACA404086355LDLRc.1742T>A (p.Leu581Gln)
c.1484T>A (p.Leu495Gln)
c.1364T>A (p.Leu455Gln)
c.1738T>A
c.980T>A (p.Leu327Gln)
c.1361T>A (p.Leu454Gln)
c.1103T>A (p.Leu368Gln)
c.205T>A
n.1634T>A
n.1601T>A
19g.11113660T>CCA404086354LDLRc.1742T>C (p.Leu581Pro)
c.1484T>C (p.Leu495Pro)
c.1364T>C (p.Leu455Pro)
c.1738T>C
c.980T>C (p.Leu327Pro)
c.1361T>C (p.Leu454Pro)
c.1103T>C (p.Leu368Pro)
c.205T>C
n.1634T>C
n.1601T>C
 dbSNP gnomAD v3 gnomAD v4
19g.11113660T>GCA404086351LDLRc.1742T>G (p.Leu581Arg)
c.1484T>G (p.Leu495Arg)
c.1364T>G (p.Leu455Arg)
c.1738T>G
c.980T>G (p.Leu327Arg)
c.1361T>G (p.Leu454Arg)
c.1103T>G (p.Leu368Arg)
c.205T>G
n.1634T>G
n.1601T>G
 ClinVar dbSNP
19g.11113660T=CA2322771979LDLRc.1742T= (p.Leu581=)
c.1484T= (p.Leu495=)
c.1364T= (p.Leu455=)
c.1738T=
c.980T= (p.Leu327=)
c.1361T= (p.Leu454=)
c.1103T= (p.Leu368=)
c.205T=
n.1634T=
n.1601T=
19g.11113660_11113662delinsTGGCA2322771978LDLRc.1742_1744delinsTGG (p.Leu581=)
c.1484_1486delinsTGG (p.Leu495=)
c.1364_1366delinsTGG (p.Leu455=)
c.1738_1740delinsTGG
c.980_982delinsTGG (p.Leu327=)
c.1361_1363delinsTGG (p.Leu454=)
c.1103_1105delinsTGG (p.Leu368=)
c.205_207delinsTGG
n.1634_1636delinsTGG
n.1601_1603delinsTGG
19g.11113661G>ACA505743265LDLRc.1743G>A (p.Leu581=)
c.1485G>A (p.Leu495=)
c.1365G>A (p.Leu455=)
c.1739G>A
c.981G>A (p.Leu327=)
c.1362G>A (p.Leu454=)
c.1104G>A (p.Leu368=)
c.206G>A
n.1635G>A
n.1602G>A
 ClinVar
19g.11113661G>CCA505743266LDLRc.1743G>C (p.Leu581=)
c.1485G>C (p.Leu495=)
c.1365G>C (p.Leu455=)
c.1739G>C
c.981G>C (p.Leu327=)
c.1362G>C (p.Leu454=)
c.1104G>C (p.Leu368=)
c.206G>C
n.1635G>C
n.1602G>C
19g.11113661G>TCA505743267LDLRc.1743G>T (p.Leu581=)
c.1485G>T (p.Leu495=)
c.1365G>T (p.Leu455=)
c.1739G>T
c.981G>T (p.Leu327=)
c.1362G>T (p.Leu454=)
c.1104G>T (p.Leu368=)
c.206G>T
n.1635G>T
n.1602G>T
19g.11113662_11113663delCA351943LDLRc.1744_1745del (p.Gly582HisfsTer?)
c.1486_1487del (p.Gly496HisfsTer?)
c.1366_1367del (p.Gly456HisfsTer?)
c.1740_1741del
c.982_983del (p.Gly328HisfsTer?)
c.1363_1364del (p.Gly455HisfsTer?)
c.1105_1106del (p.Gly369HisfsTer?)
c.207_208del
n.1636_1637del
n.1603_1604del
 ClinVar dbSNP
19g.11113662G>ACA404086362LDLRc.1744G>A (p.Gly582Ser)
c.1486G>A (p.Gly496Ser)
c.1366G>A (p.Gly456Ser)
c.1740G>A
c.982G>A (p.Gly328Ser)
c.1363G>A (p.Gly455Ser)
c.1105G>A (p.Gly369Ser)
c.207G>A
n.1636G>A
n.1603G>A
 gnomAD v4
19g.11113662G>CCA404086364LDLRc.1744G>C (p.Gly582Arg)
c.1486G>C (p.Gly496Arg)
c.1366G>C (p.Gly456Arg)
c.1740G>C
c.982G>C (p.Gly328Arg)
c.1363G>C (p.Gly455Arg)
c.1105G>C (p.Gly369Arg)
c.207G>C
n.1636G>C
n.1603G>C
19g.11113662G>TCA404086367LDLRc.1744G>T (p.Gly582Cys)
c.1486G>T (p.Gly496Cys)
c.1366G>T (p.Gly456Cys)
c.1740G>T
c.982G>T (p.Gly328Cys)
c.1363G>T (p.Gly455Cys)
c.1105G>T (p.Gly369Cys)
c.207G>T
n.1636G>T
n.1603G>T
 COSMIC
19g.11113663G>ACA404086372LDLRc.1745G>A (p.Gly582Asp)
c.1487G>A (p.Gly496Asp)
c.1367G>A (p.Gly456Asp)
c.1741G>A
c.983G>A (p.Gly328Asp)
c.1364G>A (p.Gly455Asp)
c.1106G>A (p.Gly369Asp)
c.208G>A
n.1637G>A
n.1604G>A
19g.11113663G>CCA305300122LDLRc.1745G>C (p.Gly582Ala)
c.1487G>C (p.Gly496Ala)
c.1367G>C (p.Gly456Ala)
c.1741G>C
c.983G>C (p.Gly328Ala)
c.1364G>C (p.Gly455Ala)
c.1106G>C (p.Gly369Ala)
c.208G>C
n.1637G>C
n.1604G>C
 dbSNP
19g.11113663G=CA2322771980LDLRc.1745G= (p.Gly582=)
c.1487G= (p.Gly496=)
c.1367G= (p.Gly456=)
c.1741G=
c.983G= (p.Gly328=)
c.1364G= (p.Gly455=)
c.1106G= (p.Gly369=)
c.208G=
n.1637G=
n.1604G=
19g.11113663G>TCA10585477LDLRc.1745G>T (p.Gly582Val)
c.1487G>T (p.Gly496Val)
c.1367G>T (p.Gly456Val)
c.1741G>T
c.983G>T (p.Gly328Val)
c.1364G>T (p.Gly455Val)
c.1106G>T (p.Gly369Val)
c.208G>T
n.1637G>T
n.1604G>T
 ClinVar dbSNP
19g.11113664C>ACA505743270LDLRc.1746C>A (p.Gly582=)
c.1488C>A (p.Gly496=)
c.1368C>A (p.Gly456=)
c.1742C>A
c.984C>A (p.Gly328=)
c.1365C>A (p.Gly455=)
c.1107C>A (p.Gly369=)
c.209C>A
n.1638C>A
n.1605C>A
 dbSNP
19g.11113664C=CA2322771981LDLRc.1746C= (p.Gly582=)
c.1488C= (p.Gly496=)
c.1368C= (p.Gly456=)
c.1742C=
c.984C= (p.Gly328=)
c.1365C= (p.Gly455=)
c.1107C= (p.Gly369=)
c.209C=
n.1638C=
n.1605C=
19g.11113664C>GCA505743271LDLRc.1746C>G (p.Gly582=)
c.1488C>G (p.Gly496=)
c.1368C>G (p.Gly456=)
c.1742C>G
c.984C>G (p.Gly328=)
c.1365C>G (p.Gly455=)
c.1107C>G (p.Gly369=)
c.209C>G
n.1638C>G
n.1605C>G
19g.11113664C>TCA505743272LDLRc.1746C>T (p.Gly582=)
c.1488C>T (p.Gly496=)
c.1368C>T (p.Gly456=)
c.1742C>T
c.984C>T (p.Gly328=)
c.1365C>T (p.Gly455=)
c.1107C>T (p.Gly369=)
c.209C>T
n.1638C>T
n.1605C>T
 dbSNP gnomAD v4
19g.11113665A=CA2322771982LDLRc.1747A= (p.Thr583=)
c.1489A= (p.Thr497=)
c.1369A= (p.Thr457=)
c.1743A=
c.985A= (p.Thr329=)
c.1366A= (p.Thr456=)
c.1108A= (p.Thr370=)
c.210A=
n.1639A=
n.1606A=
19g.11113665A>CCA10585478LDLRc.1747A>C (p.Thr583Pro)
c.1489A>C (p.Thr497Pro)
c.1369A>C (p.Thr457Pro)
c.1743A>C
c.985A>C (p.Thr329Pro)
c.1366A>C (p.Thr456Pro)
c.1108A>C (p.Thr370Pro)
c.210A>C
n.1639A>C
n.1606A>C
 ClinVar dbSNP gnomAD v4
19g.11113665A>GCA404086381LDLRc.1747A>G (p.Thr583Ala)
c.1489A>G (p.Thr497Ala)
c.1369A>G (p.Thr457Ala)
c.1743A>G
c.985A>G (p.Thr329Ala)
c.1366A>G (p.Thr456Ala)
c.1108A>G (p.Thr370Ala)
c.210A>G
n.1639A>G
n.1606A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11113665A>TCA404086382LDLRc.1747A>T (p.Thr583Ser)
c.1489A>T (p.Thr497Ser)
c.1369A>T (p.Thr457Ser)
c.1743A>T
c.985A>T (p.Thr329Ser)
c.1366A>T (p.Thr456Ser)
c.1108A>T (p.Thr370Ser)
c.210A>T
n.1639A>T
n.1606A>T
19g.11113665_11113666delinsACCA2322771983LDLRc.1747_1748delinsAC (p.Thr583=)
c.1489_1490delinsAC (p.Thr497=)
c.1369_1370delinsAC (p.Thr457=)
c.1743_1744delinsAC
c.985_986delinsAC (p.Thr329=)
c.1366_1367delinsAC (p.Thr456=)
c.1108_1109delinsAC (p.Thr370=)
c.210_211delinsAC
n.1639_1640delinsAC
n.1606_1607delinsAC
19g.11113666delCA916081223LDLRc.1748del (p.Thr583MetfsTer10)
c.1490del (p.Thr497MetfsTer10)
c.1370del (p.Thr457MetfsTer10)
c.1744del
c.986del (p.Thr329MetfsTer10)
c.1367del (p.Thr456MetfsTer10)
c.1109del (p.Thr370MetfsTer10)
c.211del
n.1640del
n.1607del
 ClinVar dbSNP
19g.11113666C>ACA404086384LDLRc.1748C>A (p.Thr583Asn)
c.1490C>A (p.Thr497Asn)
c.1370C>A (p.Thr457Asn)
c.1744C>A
c.986C>A (p.Thr329Asn)
c.1367C>A (p.Thr456Asn)
c.1109C>A (p.Thr370Asn)
c.211C>A
n.1640C>A
n.1607C>A
 dbSNP
19g.11113666C=CA2322771984LDLRc.1748C= (p.Thr583=)
c.1490C= (p.Thr497=)
c.1370C= (p.Thr457=)
c.1744C=
c.986C= (p.Thr329=)
c.1367C= (p.Thr456=)
c.1109C= (p.Thr370=)
c.211C=
n.1640C=
n.1607C=
19g.11113666C>GCA404086386LDLRc.1748C>G (p.Thr583Ser)
c.1490C>G (p.Thr497Ser)
c.1370C>G (p.Thr457Ser)
c.1744C>G
c.986C>G (p.Thr329Ser)
c.1367C>G (p.Thr456Ser)
c.1109C>G (p.Thr370Ser)
c.211C>G
n.1640C>G
n.1607C>G
19g.11113666C>TCA404086389LDLRc.1748C>T (p.Thr583Ile)
c.1490C>T (p.Thr497Ile)
c.1370C>T (p.Thr457Ile)
c.1744C>T
c.986C>T (p.Thr329Ile)
c.1367C>T (p.Thr456Ile)
c.1109C>T (p.Thr370Ile)
c.211C>T
n.1640C>T
n.1607C>T
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
19g.11113676T>CCA505743281LDLRc.1758T>C (p.Val586=)
c.1500T>C (p.Val500=)
c.1380T>C (p.Val460=)
c.1754T>C
c.996T>C (p.Val332=)
c.1377T>C (p.Val459=)
c.1119T>C (p.Val373=)
c.221T>C
n.1650T>C
n.1617T>C
19g.11113676T>GCA505743282LDLRc.1758T>G (p.Val586=)
c.1500T>G (p.Val500=)
c.1380T>G (p.Val460=)
c.1754T>G
c.996T>G (p.Val332=)
c.1377T>G (p.Val459=)
c.1119T>G (p.Val373=)
c.221T>G
n.1650T>G
n.1617T>G
19g.11113677G>ACA404086451LDLRc.1759G>A (p.Ala587Thr)
c.1501G>A (p.Ala501Thr)
c.1381G>A (p.Ala461Thr)
c.1755G>A
c.997G>A (p.Ala333Thr)
c.1378G>A (p.Ala460Thr)
c.1120G>A (p.Ala374Thr)
c.222G>A
n.1651G>A
n.1618G>A
 ClinVar dbSNP
19g.11113677G>CCA404086457LDLRc.1759G>C (p.Ala587Pro)
c.1501G>C (p.Ala501Pro)
c.1381G>C (p.Ala461Pro)
c.1755G>C
c.997G>C (p.Ala333Pro)
c.1378G>C (p.Ala460Pro)
c.1120G>C (p.Ala374Pro)
c.222G>C
n.1651G>C
n.1618G>C
19g.11113677G=CA2322771995LDLRc.1759G= (p.Ala587=)
c.1501G= (p.Ala501=)
c.1381G= (p.Ala461=)
c.1755G=
c.997G= (p.Ala333=)
c.1378G= (p.Ala460=)
c.1120G= (p.Ala374=)
c.222G=
n.1651G=
n.1618G=
19g.11113677G>TCA404086454LDLRc.1759G>T (p.Ala587Ser)
c.1501G>T (p.Ala501Ser)
c.1381G>T (p.Ala461Ser)
c.1755G>T
c.997G>T (p.Ala333Ser)
c.1378G>T (p.Ala460Ser)
c.1120G>T (p.Ala374Ser)
c.222G>T
n.1651G>T
n.1618G>T
 gnomAD v4
19g.11113678C>ACA10585483LDLRc.1760C>A (p.Ala587Glu)
c.1502C>A (p.Ala501Glu)
c.1382C>A (p.Ala461Glu)
c.1756C>A
c.998C>A (p.Ala333Glu)
c.1379C>A (p.Ala460Glu)
c.1121C>A (p.Ala374Glu)
c.223C>A
n.1652C>A
n.1619C>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.11113678C=CA2322771996LDLRc.1760C= (p.Ala587=)
c.1502C= (p.Ala501=)
c.1382C= (p.Ala461=)
c.1756C=
c.998C= (p.Ala333=)
c.1379C= (p.Ala460=)
c.1121C= (p.Ala374=)
c.223C=
n.1652C=
n.1619C=
19g.11113678C>GCA404086462LDLRc.1760C>G (p.Ala587Gly)
c.1502C>G (p.Ala501Gly)
c.1382C>G (p.Ala461Gly)
c.1756C>G
c.998C>G (p.Ala333Gly)
c.1379C>G (p.Ala460Gly)
c.1121C>G (p.Ala374Gly)
c.223C>G
n.1652C>G
n.1619C>G
 ClinVar dbSNP
19g.11113678C>TCA034573LDLRc.1760C>T (p.Ala587Val)
c.1502C>T (p.Ala501Val)
c.1382C>T (p.Ala461Val)
c.1756C>T
c.998C>T (p.Ala333Val)
c.1379C>T (p.Ala460Val)
c.1121C>T (p.Ala374Val)
c.223C>T
n.1652C>T
n.1619C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.11113678dupCA10585484LDLRc.1760dup (p.Asp588GlyfsTer?)
c.1502dup (p.Asp502GlyfsTer?)
c.1382dup (p.Asp462GlyfsTer?)
c.1756dup
c.998dup (p.Asp334GlyfsTer?)
c.1379dup (p.Asp461GlyfsTer?)
c.1121dup (p.Asp375GlyfsTer?)
c.223dup
n.1652dup
n.1619dup
 ClinVar dbSNP
19g.11113679G>ACA034586LDLRc.1761G>A (p.Ala587=)
c.1503G>A (p.Ala501=)
c.1383G>A (p.Ala461=)
c.1757G>A
c.999G>A (p.Ala333=)
c.1380G>A (p.Ala460=)
c.1122G>A (p.Ala374=)
c.224G>A
n.1653G>A
n.1620G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113679G>CCA505743285LDLRc.1761G>C (p.Ala587=)
c.1503G>C (p.Ala501=)
c.1383G>C (p.Ala461=)
c.1757G>C
c.999G>C (p.Ala333=)
c.1380G>C (p.Ala460=)
c.1122G>C (p.Ala374=)
c.224G>C
n.1653G>C
n.1620G>C
 ClinVar dbSNP
19g.11113679G=CA2322771997LDLRc.1761G= (p.Ala587=)
c.1503G= (p.Ala501=)
c.1383G= (p.Ala461=)
c.1757G=
c.999G= (p.Ala333=)
c.1380G= (p.Ala460=)
c.1122G= (p.Ala374=)
c.224G=
n.1653G=
n.1620G=
19g.11113679G>TCA505743284LDLRc.1761G>T (p.Ala587=)
c.1503G>T (p.Ala501=)
c.1383G>T (p.Ala461=)
c.1757G>T
c.999G>T (p.Ala333=)
c.1380G>T (p.Ala460=)
c.1122G>T (p.Ala374=)
c.224G>T
n.1653G>T
n.1620G>T
19g.11113679_11113680dupCA2499225320LDLRc.1761_1762dup (p.Asp588GlyfsTer6)
c.1503_1504dup (p.Asp502GlyfsTer6)
c.1383_1384dup (p.Asp462GlyfsTer6)
c.1757_1758dup
c.999_1000dup (p.Asp334GlyfsTer6)
c.1380_1381dup (p.Asp461GlyfsTer6)
c.1122_1123dup (p.Asp375GlyfsTer6)
c.224_225dup
n.1653_1654dup
n.1620_1621dup
 ClinVar dbSNP
19g.11113680G>ACA404086468LDLRc.1762G>A (p.Asp588Asn)
c.1504G>A (p.Asp502Asn)
c.1384G>A (p.Asp462Asn)
c.1758G>A
c.1000G>A (p.Asp334Asn)
c.1381G>A (p.Asp461Asn)
c.1123G>A (p.Asp375Asn)
c.225G>A
n.1654G>A
n.1621G>A
19g.11113680G>CCA404086470LDLRc.1762G>C (p.Asp588His)
c.1504G>C (p.Asp502His)
c.1384G>C (p.Asp462His)
c.1758G>C
c.1000G>C (p.Asp334His)
c.1381G>C (p.Asp461His)
c.1123G>C (p.Asp375His)
c.225G>C
n.1654G>C
n.1621G>C
19g.11113680G=CA2322771998LDLRc.1762G= (p.Asp588=)
c.1504G= (p.Asp502=)
c.1384G= (p.Asp462=)
c.1758G=
c.1000G= (p.Asp334=)
c.1381G= (p.Asp461=)
c.1123G= (p.Asp375=)
c.225G=
n.1654G=
n.1621G=
19g.11113680G>TCA10585485LDLRc.1762G>T (p.Asp588Tyr)
c.1504G>T (p.Asp502Tyr)
c.1384G>T (p.Asp462Tyr)
c.1758G>T
c.1000G>T (p.Asp334Tyr)
c.1381G>T (p.Asp461Tyr)
c.1123G>T (p.Asp375Tyr)
c.225G>T
n.1654G>T
n.1621G>T
 ClinVar dbSNP
19g.11113681A>CCA404086474LDLRc.1763A>C (p.Asp588Ala)
c.1505A>C (p.Asp502Ala)
c.1385A>C (p.Asp462Ala)
c.1759A>C
c.1001A>C (p.Asp334Ala)
c.1382A>C (p.Asp461Ala)
c.1124A>C (p.Asp375Ala)
c.226A>C
n.1655A>C
n.1622A>C
19g.11113681A>GCA404086476LDLRc.1763A>G (p.Asp588Gly)
c.1505A>G (p.Asp502Gly)
c.1385A>G (p.Asp462Gly)
c.1759A>G
c.1001A>G (p.Asp334Gly)
c.1382A>G (p.Asp461Gly)
c.1124A>G (p.Asp375Gly)
c.226A>G
n.1655A>G
n.1622A>G
19g.11113681A>TCA404086477LDLRc.1763A>T (p.Asp588Val)
c.1505A>T (p.Asp502Val)
c.1385A>T (p.Asp462Val)
c.1759A>T
c.1001A>T (p.Asp334Val)
c.1382A>T (p.Asp461Val)
c.1124A>T (p.Asp375Val)
c.226A>T
n.1655A>T
n.1622A>T
19g.11113682T>ACA404086478LDLRc.1764T>A (p.Asp588Glu)
c.1506T>A (p.Asp502Glu)
c.1386T>A (p.Asp462Glu)
c.1760T>A
c.1002T>A (p.Asp334Glu)
c.1383T>A (p.Asp461Glu)
c.1125T>A (p.Asp375Glu)
c.227T>A
n.1656T>A
n.1623T>A
19g.11113682T>CCA505743286LDLRc.1764T>C (p.Asp588=)
c.1506T>C (p.Asp502=)
c.1386T>C (p.Asp462=)
c.1760T>C
c.1002T>C (p.Asp334=)
c.1383T>C (p.Asp461=)
c.1125T>C (p.Asp375=)
c.227T>C
n.1656T>C
n.1623T>C
 ClinVar dbSNP
19g.11113682T>GCA404086479LDLRc.1764T>G (p.Asp588Glu)
c.1506T>G (p.Asp502Glu)
c.1386T>G (p.Asp462Glu)
c.1760T>G
c.1002T>G (p.Asp334Glu)
c.1383T>G (p.Asp461Glu)
c.1125T>G (p.Asp375Glu)
c.227T>G
n.1656T>G
n.1623T>G
19g.11113682T=CA2322771999LDLRc.1764T= (p.Asp588=)
c.1506T= (p.Asp502=)
c.1386T= (p.Asp462=)
c.1760T=
c.1002T= (p.Asp334=)
c.1383T= (p.Asp461=)
c.1125T= (p.Asp375=)
c.227T=
n.1656T=
n.1623T=
19g.11113683A>CCA404086482LDLRc.1765A>C (p.Thr589Pro)
c.1507A>C (p.Thr503Pro)
c.1387A>C (p.Thr463Pro)
c.1761A>C
c.1003A>C (p.Thr335Pro)
c.1384A>C (p.Thr462Pro)
c.1126A>C (p.Thr376Pro)
c.228A>C
n.1657A>C
n.1624A>C
19g.11113683A>GCA404086480LDLRc.1765A>G (p.Thr589Ala)
c.1507A>G (p.Thr503Ala)
c.1387A>G (p.Thr463Ala)
c.1761A>G
c.1003A>G (p.Thr335Ala)
c.1384A>G (p.Thr462Ala)
c.1126A>G (p.Thr376Ala)
c.228A>G
n.1657A>G
n.1624A>G
19g.11113683A>TCA404086481LDLRc.1765A>T (p.Thr589Ser)
c.1507A>T (p.Thr503Ser)
c.1387A>T (p.Thr463Ser)
c.1761A>T
c.1003A>T (p.Thr335Ser)
c.1384A>T (p.Thr462Ser)
c.1126A>T (p.Thr376Ser)
c.228A>T
n.1657A>T
n.1624A>T
19g.11113683_11113730delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCA2322772000LDLRc.1765_1812delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr589=)
c.1507_1554delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr503=)
c.1387_1434delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr463=)
c.1761_1808delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG
c.1003_1050delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr335=)
c.1384_1431delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr462=)
c.1126_1173delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG (p.Thr376=)
c.228_275delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG
n.1657_1704delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG
n.1624_1671delinsACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAG
19g.11113684C>ACA305300130LDLRc.1766C>A (p.Thr589Asn)
c.1508C>A (p.Thr503Asn)
c.1388C>A (p.Thr463Asn)
c.1762C>A
c.1004C>A (p.Thr335Asn)
c.1385C>A (p.Thr462Asn)
c.1127C>A (p.Thr376Asn)
c.229C>A
n.1658C>A
n.1625C>A
 dbSNP gnomAD v2 gnomAD v4
19g.11113684C=CA2322772001LDLRc.1766C= (p.Thr589=)
c.1508C= (p.Thr503=)
c.1388C= (p.Thr463=)
c.1762C=
c.1004C= (p.Thr335=)
c.1385C= (p.Thr462=)
c.1127C= (p.Thr376=)
c.229C=
n.1658C=
n.1625C=
19g.11113684C>GCA404086484LDLRc.1766C>G (p.Thr589Ser)
c.1508C>G (p.Thr503Ser)
c.1388C>G (p.Thr463Ser)
c.1762C>G
c.1004C>G (p.Thr335Ser)
c.1385C>G (p.Thr462Ser)
c.1127C>G (p.Thr376Ser)
c.229C>G
n.1658C>G
n.1625C>G
19g.11113684C>TCA404086483LDLRc.1766C>T (p.Thr589Ile)
c.1508C>T (p.Thr503Ile)
c.1388C>T (p.Thr463Ile)
c.1762C>T
c.1004C>T (p.Thr335Ile)
c.1385C>T (p.Thr462Ile)
c.1127C>T (p.Thr376Ile)
c.229C>T
n.1658C>T
n.1625C>T
19g.11113692_11113738delCA10585488LDLRc.1774_1820del (p.Val592HisfsTer14)
c.1516_1562del (p.Val506HisfsTer14)
c.1396_1442del (p.Val466HisfsTer14)
c.1770_1816del
c.1012_1058del (p.Val338HisfsTer14)
c.1393_1439del (p.Val465HisfsTer14)
c.1135_1181del (p.Val379HisfsTer14)
c.237_283del
n.1666_1712del
n.1633_1679del
 ClinVar dbSNP
19g.11113685C>ACA034597LDLRc.1767C>A (p.Thr589=)
c.1509C>A (p.Thr503=)
c.1389C>A (p.Thr463=)
c.1763C>A
c.1005C>A (p.Thr335=)
c.1386C>A (p.Thr462=)
c.1128C>A (p.Thr376=)
c.230C>A
n.1659C>A
n.1626C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113685C=CA2322772002LDLRc.1767C= (p.Thr589=)
c.1509C= (p.Thr503=)
c.1389C= (p.Thr463=)
c.1763C=
c.1005C= (p.Thr335=)
c.1386C= (p.Thr462=)
c.1128C= (p.Thr376=)
c.230C=
n.1659C=
n.1626C=
19g.11113685C>GCA505743288LDLRc.1767C>G (p.Thr589=)
c.1509C>G (p.Thr503=)
c.1389C>G (p.Thr463=)
c.1763C>G
c.1005C>G (p.Thr335=)
c.1386C>G (p.Thr462=)
c.1128C>G (p.Thr376=)
c.230C>G
n.1659C>G
n.1626C>G
19g.11113685C>TCA505743287LDLRc.1767C>T (p.Thr589=)
c.1509C>T (p.Thr503=)
c.1389C>T (p.Thr463=)
c.1763C>T
c.1005C>T (p.Thr335=)
c.1386C>T (p.Thr462=)
c.1128C>T (p.Thr376=)
c.230C>T
n.1659C>T
n.1626C>T
19g.11113686A=CA2322772003LDLRc.1768A= (p.Lys590=)
c.1510A= (p.Lys504=)
c.1390A= (p.Lys464=)
c.1764A=
c.1006A= (p.Lys336=)
c.1387A= (p.Lys463=)
c.1129A= (p.Lys377=)
c.231A=
n.1660A=
n.1627A=
19g.11113686A>CCA404086485LDLRc.1768A>C (p.Lys590Gln)
c.1510A>C (p.Lys504Gln)
c.1390A>C (p.Lys464Gln)
c.1764A>C
c.1006A>C (p.Lys336Gln)
c.1387A>C (p.Lys463Gln)
c.1129A>C (p.Lys377Gln)
c.231A>C
n.1660A>C
n.1627A>C
19g.11113686A>GCA023518LDLRc.1768A>G (p.Lys590Glu)
c.1510A>G (p.Lys504Glu)
c.1390A>G (p.Lys464Glu)
c.1764A>G
c.1006A>G (p.Lys336Glu)
c.1387A>G (p.Lys463Glu)
c.1129A>G (p.Lys377Glu)
c.231A>G
n.1660A>G
n.1627A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113686A>TCA10585486LDLRc.1768A>T (p.Lys590Ter)
c.1510A>T (p.Lys504Ter)
c.1390A>T (p.Lys464Ter)
c.1764A>T
c.1006A>T (p.Lys336Ter)
c.1387A>T (p.Lys463Ter)
c.1129A>T (p.Lys377Ter)
c.231A>T
n.1660A>T
n.1627A>T
 ClinVar dbSNP
19g.11113687A>CCA404086486LDLRc.1769A>C (p.Lys590Thr)
c.1511A>C (p.Lys504Thr)
c.1391A>C (p.Lys464Thr)
c.1765A>C
c.1007A>C (p.Lys336Thr)
c.1388A>C (p.Lys463Thr)
c.1130A>C (p.Lys377Thr)
c.232A>C
n.1661A>C
n.1628A>C
19g.11113687A>GCA404086487LDLRc.1769A>G (p.Lys590Arg)
c.1511A>G (p.Lys504Arg)
c.1391A>G (p.Lys464Arg)
c.1765A>G
c.1007A>G (p.Lys336Arg)
c.1388A>G (p.Lys463Arg)
c.1130A>G (p.Lys377Arg)
c.232A>G
n.1661A>G
n.1628A>G
 COSMIC
19g.11113687A>TCA404086488LDLRc.1769A>T (p.Lys590Met)
c.1511A>T (p.Lys504Met)
c.1391A>T (p.Lys464Met)
c.1765A>T
c.1007A>T (p.Lys336Met)
c.1388A>T (p.Lys463Met)
c.1130A>T (p.Lys377Met)
c.232A>T
n.1661A>T
n.1628A>T
19g.11113688G>ACA505743289LDLRc.1770G>A (p.Lys590=)
c.1512G>A (p.Lys504=)
c.1392G>A (p.Lys464=)
c.1766G>A
c.1008G>A (p.Lys336=)
c.1389G>A (p.Lys463=)
c.1131G>A (p.Lys377=)
c.233G>A
n.1662G>A
n.1629G>A
19g.11113688G>CCA404086489LDLRc.1770G>C (p.Lys590Asn)
c.1512G>C (p.Lys504Asn)
c.1392G>C (p.Lys464Asn)
c.1766G>C
c.1008G>C (p.Lys336Asn)
c.1389G>C (p.Lys463Asn)
c.1131G>C (p.Lys377Asn)
c.233G>C
n.1662G>C
n.1629G>C
19g.11113688G=CA2322772004LDLRc.1770G= (p.Lys590=)
c.1512G= (p.Lys504=)
c.1392G= (p.Lys464=)
c.1766G=
c.1008G= (p.Lys336=)
c.1389G= (p.Lys463=)
c.1131G= (p.Lys377=)
c.233G=
n.1662G=
n.1629G=
19g.11113688G>TCA404086490LDLRc.1770G>T (p.Lys590Asn)
c.1512G>T (p.Lys504Asn)
c.1392G>T (p.Lys464Asn)
c.1766G>T
c.1008G>T (p.Lys336Asn)
c.1389G>T (p.Lys463Asn)
c.1131G>T (p.Lys377Asn)
c.233G>T
n.1662G>T
n.1629G>T
 dbSNP gnomAD v3 gnomAD v4
19g.11113689G>ACA404086491LDLRc.1771G>A (p.Gly591Ser)
c.1513G>A (p.Gly505Ser)
c.1393G>A (p.Gly465Ser)
c.1767G>A
c.1009G>A (p.Gly337Ser)
c.1390G>A (p.Gly464Ser)
c.1132G>A (p.Gly378Ser)
c.234G>A
n.1663G>A
n.1630G>A
19g.11113689G>CCA404086492LDLRc.1771G>C (p.Gly591Arg)
c.1513G>C (p.Gly505Arg)
c.1393G>C (p.Gly465Arg)
c.1767G>C
c.1009G>C (p.Gly337Arg)
c.1390G>C (p.Gly464Arg)
c.1132G>C (p.Gly378Arg)
c.234G>C
n.1663G>C
n.1630G>C
19g.11113689G>TCA404086493LDLRc.1771G>T (p.Gly591Cys)
c.1513G>T (p.Gly505Cys)
c.1393G>T (p.Gly465Cys)
c.1767G>T
c.1009G>T (p.Gly337Cys)
c.1390G>T (p.Gly464Cys)
c.1132G>T (p.Gly378Cys)
c.234G>T
n.1663G>T
n.1630G>T
19g.11113690G>ACA10585487LDLRc.1772G>A (p.Gly591Asp)
c.1514G>A (p.Gly505Asp)
c.1394G>A (p.Gly465Asp)
c.1768G>A
c.1010G>A (p.Gly337Asp)
c.1391G>A (p.Gly464Asp)
c.1133G>A (p.Gly378Asp)
c.235G>A
n.1664G>A
n.1631G>A
 ClinVar dbSNP gnomAD v4
19g.11113690G>CCA404086495LDLRc.1772G>C (p.Gly591Ala)
c.1514G>C (p.Gly505Ala)
c.1394G>C (p.Gly465Ala)
c.1768G>C
c.1010G>C (p.Gly337Ala)
c.1391G>C (p.Gly464Ala)
c.1133G>C (p.Gly378Ala)
c.235G>C
n.1664G>C
n.1631G>C
 ClinVar COSMIC
19g.11113690G=CA2322772005LDLRc.1772G= (p.Gly591=)
c.1514G= (p.Gly505=)
c.1394G= (p.Gly465=)
c.1768G=
c.1010G= (p.Gly337=)
c.1391G= (p.Gly464=)
c.1133G= (p.Gly378=)
c.235G=
n.1664G=
n.1631G=
19g.11113690G>TCA404086494LDLRc.1772G>T (p.Gly591Val)
c.1514G>T (p.Gly505Val)
c.1394G>T (p.Gly465Val)
c.1768G>T
c.1010G>T (p.Gly337Val)
c.1391G>T (p.Gly464Val)
c.1133G>T (p.Gly378Val)
c.235G>T
n.1664G>T
n.1631G>T
19g.11113691C>ACA505743290LDLRc.1773C>A (p.Gly591=)
c.1515C>A (p.Gly505=)
c.1395C>A (p.Gly465=)
c.1769C>A
c.1011C>A (p.Gly337=)
c.1392C>A (p.Gly464=)
c.1134C>A (p.Gly378=)
c.236C>A
n.1665C>A
n.1632C>A
 dbSNP
19g.11113691C=CA2322772006LDLRc.1773C= (p.Gly591=)
c.1515C= (p.Gly505=)
c.1395C= (p.Gly465=)
c.1769C=
c.1011C= (p.Gly337=)
c.1392C= (p.Gly464=)
c.1134C= (p.Gly378=)
c.236C=
n.1665C=
n.1632C=
19g.11113691C>GCA505743291LDLRc.1773C>G (p.Gly591=)
c.1515C>G (p.Gly505=)
c.1395C>G (p.Gly465=)
c.1769C>G
c.1011C>G (p.Gly337=)
c.1392C>G (p.Gly464=)
c.1134C>G (p.Gly378=)
c.236C>G
n.1665C>G
n.1632C>G
19g.11113691C>TCA034626LDLRc.1773C>T (p.Gly591=)
c.1515C>T (p.Gly505=)
c.1395C>T (p.Gly465=)
c.1769C>T
c.1011C>T (p.Gly337=)
c.1392C>T (p.Gly464=)
c.1134C>T (p.Gly378=)
c.236C>T
n.1665C>T
n.1632C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113692_11113739delCA2497030067LDLRc.1774_1821del (p.Val592_Ala607del)
c.1516_1563del (p.Val506_Ala521del)
c.1396_1443del (p.Val466_Ala481del)
c.1770_1817del
c.1012_1059del (p.Val338_Ala353del)
c.1393_1440del (p.Val465_Ala480del)
c.1135_1182del (p.Val379_Ala394del)
c.237_284del
n.1666_1713del
n.1633_1680del
19g.11113694_11114102delCA2739276500LDLRc.1776_1844+340del
c.1518_1586+340del
c.1398_1466+340del
c.1772_1840+340del
c.1014_1082+340del
c.1395_1463+340del
c.1137_1205+340del
c.239_307+340del
n.1668_1736+340del
n.1635_1703+340del
 ClinVar
19g.11113692G>ACA034649LDLRc.1774G>A (p.Val592Met)
c.1516G>A (p.Val506Met)
c.1396G>A (p.Val466Met)
c.1770G>A
c.1012G>A (p.Val338Met)
c.1393G>A (p.Val465Met)
c.1135G>A (p.Val379Met)
c.237G>A
n.1666G>A
n.1633G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11113692G>CCA404086496LDLRc.1774G>C (p.Val592Leu)
c.1516G>C (p.Val506Leu)
c.1396G>C (p.Val466Leu)
c.1770G>C
c.1012G>C (p.Val338Leu)
c.1393G>C (p.Val465Leu)
c.1135G>C (p.Val379Leu)
c.237G>C
n.1666G>C
n.1633G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11113692G=CA2322772007LDLRc.1774G= (p.Val592=)
c.1516G= (p.Val506=)
c.1396G= (p.Val466=)
c.1770G=
c.1012G= (p.Val338=)
c.1393G= (p.Val465=)
c.1135G= (p.Val379=)
c.237G=
n.1666G=
n.1633G=
19g.11113692G>TCA404086497LDLRc.1774G>T (p.Val592Leu)
c.1516G>T (p.Val506Leu)
c.1396G>T (p.Val466Leu)
c.1770G>T
c.1012G>T (p.Val338Leu)
c.1393G>T (p.Val465Leu)
c.1135G>T (p.Val379Leu)
c.237G>T
n.1666G>T
n.1633G>T
19g.11113692dupCA2499225321LDLRc.1774dup (p.Val592GlyfsTer30)
c.1516dup (p.Val506GlyfsTer30)
c.1396dup (p.Val466GlyfsTer30)
c.1770dup
c.1012dup (p.Val338GlyfsTer30)
c.1393dup (p.Val465GlyfsTer30)
c.1135dup (p.Val379GlyfsTer30)
c.237dup
n.1666dup
n.1633dup
 ClinVar dbSNP
19g.11113693T>ACA404086498LDLRc.1775T>A (p.Val592Glu)
c.1517T>A (p.Val506Glu)
c.1397T>A (p.Val466Glu)
c.1771T>A
c.1013T>A (p.Val338Glu)
c.1394T>A (p.Val465Glu)
c.1136T>A (p.Val379Glu)
c.238T>A
n.1667T>A
n.1634T>A
19g.11113693T>CCA404086499LDLRc.1775T>C (p.Val592Ala)
c.1517T>C (p.Val506Ala)
c.1397T>C (p.Val466Ala)
c.1771T>C
c.1013T>C (p.Val338Ala)
c.1394T>C (p.Val465Ala)
c.1136T>C (p.Val379Ala)
c.238T>C
n.1667T>C
n.1634T>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.11113693T>GCA404086500LDLRc.1775T>G (p.Val592Gly)
c.1517T>G (p.Val506Gly)
c.1397T>G (p.Val466Gly)
c.1771T>G
c.1013T>G (p.Val338Gly)
c.1394T>G (p.Val465Gly)
c.1136T>G (p.Val379Gly)
c.238T>G
n.1667T>G
n.1634T>G
 dbSNP
19g.11113693T=CA2322772008LDLRc.1775T= (p.Val592=)
c.1517T= (p.Val506=)
c.1397T= (p.Val466=)
c.1771T=
c.1013T= (p.Val338=)
c.1394T= (p.Val465=)
c.1136T= (p.Val379=)
c.238T=
n.1667T=
n.1634T=
19g.11113694G>ACA505743292LDLRc.1776G>A (p.Val592=)
c.1518G>A (p.Val506=)
c.1398G>A (p.Val466=)
c.1772G>A
c.1014G>A (p.Val338=)
c.1395G>A (p.Val465=)
c.1137G>A (p.Val379=)
c.239G>A
n.1668G>A
n.1635G>A
 ClinVar
19g.11113694G>CCA505743293LDLRc.1776G>C (p.Val592=)
c.1518G>C (p.Val506=)
c.1398G>C (p.Val466=)
c.1772G>C
c.1014G>C (p.Val338=)
c.1395G>C (p.Val465=)
c.1137G>C (p.Val379=)
c.239G>C
n.1668G>C
n.1635G>C
19g.11113694G>TCA505743294LDLRc.1776G>T (p.Val592=)
c.1518G>T (p.Val506=)
c.1398G>T (p.Val466=)
c.1772G>T
c.1014G>T (p.Val338=)
c.1395G>T (p.Val465=)
c.1137G>T (p.Val379=)
c.239G>T
n.1668G>T
n.1635G>T
19g.11113695A=CA2322772009LDLRc.1777A= (p.Lys593=)
c.1519A= (p.Lys507=)
c.1399A= (p.Lys467=)
c.1773A=
c.1015A= (p.Lys339=)
c.1396A= (p.Lys466=)
c.1138A= (p.Lys380=)
c.240A=
n.1669A=
n.1636A=
19g.11113695A>CCA404086501LDLRc.1777A>C (p.Lys593Gln)
c.1519A>C (p.Lys507Gln)
c.1399A>C (p.Lys467Gln)
c.1773A>C
c.1015A>C (p.Lys339Gln)
c.1396A>C (p.Lys466Gln)
c.1138A>C (p.Lys380Gln)
c.240A>C
n.1669A>C
n.1636A>C
19g.11113695A>GCA10585489LDLRc.1777A>G (p.Lys593Glu)
c.1519A>G (p.Lys507Glu)
c.1399A>G (p.Lys467Glu)
c.1773A>G
c.1015A>G (p.Lys339Glu)
c.1396A>G (p.Lys466Glu)
c.1138A>G (p.Lys380Glu)
c.240A>G
n.1669A>G
n.1636A>G
 ClinVar dbSNP gnomAD v4
19g.11113695A>TCA404086502LDLRc.1777A>T (p.Lys593Ter)
c.1519A>T (p.Lys507Ter)
c.1399A>T (p.Lys467Ter)
c.1773A>T
c.1015A>T (p.Lys339Ter)
c.1396A>T (p.Lys466Ter)
c.1138A>T (p.Lys380Ter)
c.240A>T
n.1669A>T
n.1636A>T
19g.11113696delCA2695238663LDLRc.1778del (p.Lys593ArgfsTer?)
c.1520del (p.Lys507ArgfsTer?)
c.1400del (p.Lys467ArgfsTer?)
c.1774del
c.1016del (p.Lys339ArgfsTer?)
c.1397del (p.Lys466ArgfsTer?)
c.1139del (p.Lys380ArgfsTer?)
c.241del
n.1670del
n.1637del
19g.11113696A=CA2322772010LDLRc.1778A= (p.Lys593=)
c.1520A= (p.Lys507=)
c.1400A= (p.Lys467=)
c.1774A=
c.1016A= (p.Lys339=)
c.1397A= (p.Lys466=)
c.1139A= (p.Lys380=)
c.241A=
n.1670A=
n.1637A=
19g.11113696A>CCA10585490LDLRc.1778A>C (p.Lys593Thr)
c.1520A>C (p.Lys507Thr)
c.1400A>C (p.Lys467Thr)
c.1774A>C
c.1016A>C (p.Lys339Thr)
c.1397A>C (p.Lys466Thr)
c.1139A>C (p.Lys380Thr)
c.241A>C
n.1670A>C
n.1637A>C
 ClinVar dbSNP gnomAD v4
19g.11113696A>GCA404086503LDLRc.1778A>G (p.Lys593Arg)
c.1520A>G (p.Lys507Arg)
c.1400A>G (p.Lys467Arg)
c.1774A>G
c.1016A>G (p.Lys339Arg)
c.1397A>G (p.Lys466Arg)
c.1139A>G (p.Lys380Arg)
c.241A>G
n.1670A>G
n.1637A>G
19g.11113696A>TCA404086504LDLRc.1778A>T (p.Lys593Met)
c.1520A>T (p.Lys507Met)
c.1400A>T (p.Lys467Met)
c.1774A>T
c.1016A>T (p.Lys339Met)
c.1397A>T (p.Lys466Met)
c.1139A>T (p.Lys380Met)
c.241A>T
n.1670A>T
n.1637A>T
19g.11113697G>ACA505743295LDLRc.1779G>A (p.Lys593=)
c.1521G>A (p.Lys507=)
c.1401G>A (p.Lys467=)
c.1775G>A
c.1017G>A (p.Lys339=)
c.1398G>A (p.Lys466=)
c.1140G>A (p.Lys380=)
c.242G>A
n.1671G>A
n.1638G>A
19g.11113697G>CCA404086505LDLRc.1779G>C (p.Lys593Asn)
c.1521G>C (p.Lys507Asn)
c.1401G>C (p.Lys467Asn)
c.1775G>C
c.1017G>C (p.Lys339Asn)
c.1398G>C (p.Lys466Asn)
c.1140G>C (p.Lys380Asn)
c.242G>C
n.1671G>C
n.1638G>C
 ClinVar dbSNP
19g.11113697G=CA2322772012LDLRc.1779G= (p.Lys593=)
c.1521G= (p.Lys507=)
c.1401G= (p.Lys467=)
c.1775G=
c.1017G= (p.Lys339=)
c.1398G= (p.Lys466=)
c.1140G= (p.Lys380=)
c.242G=
n.1671G=
n.1638G=
19g.11113697G>TCA404086506LDLRc.1779G>T (p.Lys593Asn)
c.1521G>T (p.Lys507Asn)
c.1401G>T (p.Lys467Asn)
c.1775G>T
c.1017G>T (p.Lys339Asn)
c.1398G>T (p.Lys466Asn)
c.1140G>T (p.Lys380Asn)
c.242G>T
n.1671G>T
n.1638G>T
19g.11113697_11113698delinsGACA2322772011LDLRc.1779_1780delinsGA (p.Lys593=)
c.1521_1522delinsGA (p.Lys507=)
c.1401_1402delinsGA (p.Lys467=)
c.1775_1776delinsGA
c.1017_1018delinsGA (p.Lys339=)
c.1398_1399delinsGA (p.Lys466=)
c.1140_1141delinsGA (p.Lys380=)
c.242_243delinsGA
n.1671_1672delinsGA
n.1638_1639delinsGA
19g.11113698A=CA2322772013LDLRc.1780A= (p.Arg594=)
c.1522A= (p.Arg508=)
c.1402A= (p.Arg468=)
c.1776A=
c.1018A= (p.Arg340=)
c.1399A= (p.Arg467=)
c.1141A= (p.Arg381=)
c.243A=
n.1672A=
n.1639A=
19g.11113698A>CCA505743296LDLRc.1780A>C (p.Arg594=)
c.1522A>C (p.Arg508=)
c.1402A>C (p.Arg468=)
c.1776A>C
c.1018A>C (p.Arg340=)
c.1399A>C (p.Arg467=)
c.1141A>C (p.Arg381=)
c.243A>C
n.1672A>C
n.1639A>C
19g.11113698A>GCA404086507LDLRc.1780A>G (p.Arg594Gly)
c.1522A>G (p.Arg508Gly)
c.1402A>G (p.Arg468Gly)
c.1776A>G
c.1018A>G (p.Arg340Gly)
c.1399A>G (p.Arg467Gly)
c.1141A>G (p.Arg381Gly)
c.243A>G
n.1672A>G
n.1639A>G
19g.11113698A>TCA404086508LDLRc.1780A>T (p.Arg594Trp)
c.1522A>T (p.Arg508Trp)
c.1402A>T (p.Arg468Trp)
c.1776A>T
c.1018A>T (p.Arg340Trp)
c.1399A>T (p.Arg467Trp)
c.1141A>T (p.Arg381Trp)
c.243A>T
n.1672A>T
n.1639A>T
 ClinVar dbSNP
19g.11113698delinsCTGAATCA10585491LDLRc.1780delinsCTGAAT (p.Arg594LeufsTer?)
c.1522delinsCTGAAT (p.Arg508LeufsTer?)
c.1402delinsCTGAAT (p.Arg468LeufsTer?)
c.1776delinsCTGAAT
c.1018delinsCTGAAT (p.Arg340LeufsTer?)
c.1399delinsCTGAAT (p.Arg467LeufsTer?)
c.1141delinsCTGAAT (p.Arg381LeufsTer?)
c.243delinsCTGAAT
n.1672delinsCTGAAT
n.1639delinsCTGAAT
 ClinVar dbSNP
19g.11113699G>ACA404086509LDLRc.1781G>A (p.Arg594Lys)
c.1523G>A (p.Arg508Lys)
c.1403G>A (p.Arg468Lys)
c.1777G>A
c.1019G>A (p.Arg340Lys)
c.1400G>A (p.Arg467Lys)
c.1142G>A (p.Arg381Lys)
c.244G>A
n.1673G>A
n.1640G>A
 dbSNP gnomAD v2
19g.11113699G>CCA404086510LDLRc.1781G>C (p.Arg594Thr)
c.1523G>C (p.Arg508Thr)
c.1403G>C (p.Arg468Thr)
c.1777G>C
c.1019G>C (p.Arg340Thr)
c.1400G>C (p.Arg467Thr)
c.1142G>C (p.Arg381Thr)
c.244G>C
n.1673G>C
n.1640G>C
19g.11113699G=CA2322772014LDLRc.1781G= (p.Arg594=)
c.1523G= (p.Arg508=)
c.1403G= (p.Arg468=)
c.1777G=
c.1019G= (p.Arg340=)
c.1400G= (p.Arg467=)
c.1142G= (p.Arg381=)
c.244G=
n.1673G=
n.1640G=
19g.11113699G>TCA404086511LDLRc.1781G>T (p.Arg594Met)
c.1523G>T (p.Arg508Met)
c.1403G>T (p.Arg468Met)
c.1777G>T
c.1019G>T (p.Arg340Met)
c.1400G>T (p.Arg467Met)
c.1142G>T (p.Arg381Met)
c.244G>T
n.1673G>T
n.1640G>T
19g.11113700G>ACA505743297LDLRc.1782G>A (p.Arg594=)
c.1524G>A (p.Arg508=)
c.1404G>A (p.Arg468=)
c.1778G>A
c.1020G>A (p.Arg340=)
c.1401G>A (p.Arg467=)
c.1143G>A (p.Arg381=)
c.245G>A
n.1674G>A
n.1641G>A
 ClinVar gnomAD v4
19g.11113700G>CCA404086512LDLRc.1782G>C (p.Arg594Ser)
c.1524G>C (p.Arg508Ser)
c.1404G>C (p.Arg468Ser)
c.1778G>C
c.1020G>C (p.Arg340Ser)
c.1401G>C (p.Arg467Ser)
c.1143G>C (p.Arg381Ser)
c.245G>C
n.1674G>C
n.1641G>C
19g.11113700G>TCA404086513LDLRc.1782G>T (p.Arg594Ser)
c.1524G>T (p.Arg508Ser)
c.1404G>T (p.Arg468Ser)
c.1778G>T
c.1020G>T (p.Arg340Ser)
c.1401G>T (p.Arg467Ser)
c.1143G>T (p.Arg381Ser)
c.245G>T
n.1674G>T
n.1641G>T
19g.11113701A=CA2322772015LDLRc.1783A= (p.Lys595=)
c.1525A= (p.Lys509=)
c.1405A= (p.Lys469=)
c.1779A=
c.1021A= (p.Lys341=)
c.1402A= (p.Lys468=)
c.1144A= (p.Lys382=)
c.246A=
n.1675A=
n.1642A=
19g.11113701A>CCA404086514LDLRc.1783A>C (p.Lys595Gln)
c.1525A>C (p.Lys509Gln)
c.1405A>C (p.Lys469Gln)
c.1779A>C
c.1021A>C (p.Lys341Gln)
c.1402A>C (p.Lys468Gln)
c.1144A>C (p.Lys382Gln)
c.246A>C
n.1675A>C
n.1642A>C
 dbSNP gnomAD v2 gnomAD v4
19g.11113701A>GCA10585492LDLRc.1783A>G (p.Lys595Glu)
c.1525A>G (p.Lys509Glu)
c.1405A>G (p.Lys469Glu)
c.1779A>G
c.1021A>G (p.Lys341Glu)
c.1402A>G (p.Lys468Glu)
c.1144A>G (p.Lys382Glu)
c.246A>G
n.1675A>G
n.1642A>G
 ClinVar dbSNP
19g.11113701A>TCA404086515LDLRc.1783A>T (p.Lys595Ter)
c.1525A>T (p.Lys509Ter)
c.1405A>T (p.Lys469Ter)
c.1779A>T
c.1021A>T (p.Lys341Ter)
c.1402A>T (p.Lys468Ter)
c.1144A>T (p.Lys382Ter)
c.246A>T
n.1675A>T
n.1642A>T
19g.11113704dupCA2695228117LDLRc.1786dup (p.Thr596AsnfsTer26)
c.1528dup (p.Thr510AsnfsTer26)
c.1408dup (p.Thr470AsnfsTer26)
c.1782dup
c.1024dup (p.Thr342AsnfsTer26)
c.1405dup (p.Thr469AsnfsTer26)
c.1147dup (p.Thr383AsnfsTer26)
c.249dup
n.1678dup
n.1645dup
19g.11113702A>CCA404086516LDLRc.1784A>C (p.Lys595Thr)
c.1526A>C (p.Lys509Thr)
c.1406A>C (p.Lys469Thr)
c.1780A>C
c.1022A>C (p.Lys341Thr)
c.1403A>C (p.Lys468Thr)
c.1145A>C (p.Lys382Thr)
c.247A>C
n.1676A>C
n.1643A>C
19g.11113702A>GCA404086517LDLRc.1784A>G (p.Lys595Arg)
c.1526A>G (p.Lys509Arg)
c.1406A>G (p.Lys469Arg)
c.1780A>G
c.1022A>G (p.Lys341Arg)
c.1403A>G (p.Lys468Arg)
c.1145A>G (p.Lys382Arg)
c.247A>G
n.1676A>G
n.1643A>G
 gnomAD v4
19g.11113702A>TCA404086518LDLRc.1784A>T (p.Lys595Ile)
c.1526A>T (p.Lys509Ile)
c.1406A>T (p.Lys469Ile)
c.1780A>T
c.1022A>T (p.Lys341Ile)
c.1403A>T (p.Lys468Ile)
c.1145A>T (p.Lys382Ile)
c.247A>T
n.1676A>T
n.1643A>T
19g.11113703A=CA2322772016LDLRc.1785A= (p.Lys595=)
c.1527A= (p.Lys509=)
c.1407A= (p.Lys469=)
c.1781A=
c.1023A= (p.Lys341=)
c.1404A= (p.Lys468=)
c.1146A= (p.Lys382=)
c.248A=
n.1677A=
n.1644A=
19g.11113703A>CCA404086519LDLRc.1785A>C (p.Lys595Asn)
c.1527A>C (p.Lys509Asn)
c.1407A>C (p.Lys469Asn)
c.1781A>C
c.1023A>C (p.Lys341Asn)
c.1404A>C (p.Lys468Asn)
c.1146A>C (p.Lys382Asn)
c.248A>C
n.1677A>C
n.1644A>C
19g.11113703A>GCA505743298LDLRc.1785A>G (p.Lys595=)
c.1527A>G (p.Lys509=)
c.1407A>G (p.Lys469=)
c.1781A>G
c.1023A>G (p.Lys341=)
c.1404A>G (p.Lys468=)
c.1146A>G (p.Lys382=)
c.248A>G
n.1677A>G
n.1644A>G
 ClinVar dbSNP gnomAD v4
19g.11113703A>TCA404086520LDLRc.1785A>T (p.Lys595Asn)
c.1527A>T (p.Lys509Asn)
c.1407A>T (p.Lys469Asn)
c.1781A>T
c.1023A>T (p.Lys341Asn)
c.1404A>T (p.Lys468Asn)
c.1146A>T (p.Lys382Asn)
c.248A>T
n.1677A>T
n.1644A>T
 dbSNP
19g.11113704A>CCA404086521LDLRc.1786A>C (p.Thr596Pro)
c.1528A>C (p.Thr510Pro)
c.1408A>C (p.Thr470Pro)
c.1782A>C
c.1024A>C (p.Thr342Pro)
c.1405A>C (p.Thr469Pro)
c.1147A>C (p.Thr383Pro)
c.249A>C
n.1678A>C
n.1645A>C
19g.11113704A>GCA404086522LDLRc.1786A>G (p.Thr596Ala)
c.1528A>G (p.Thr510Ala)
c.1408A>G (p.Thr470Ala)
c.1782A>G
c.1024A>G (p.Thr342Ala)
c.1405A>G (p.Thr469Ala)
c.1147A>G (p.Thr383Ala)
c.249A>G
n.1678A>G
n.1645A>G
 gnomAD v4
19g.11113704A>TCA404086523LDLRc.1786A>T (p.Thr596Ser)
c.1528A>T (p.Thr510Ser)
c.1408A>T (p.Thr470Ser)
c.1782A>T
c.1024A>T (p.Thr342Ser)
c.1405A>T (p.Thr469Ser)
c.1147A>T (p.Thr383Ser)
c.249A>T
n.1678A>T
n.1645A>T
19g.11113704_11113705delinsACCA2322772017LDLRc.1786_1787delinsAC (p.Thr596=)
c.1528_1529delinsAC (p.Thr510=)
c.1408_1409delinsAC (p.Thr470=)
c.1782_1783delinsAC
c.1024_1025delinsAC (p.Thr342=)
c.1405_1406delinsAC (p.Thr469=)
c.1147_1148delinsAC (p.Thr383=)
c.249_250delinsAC
n.1678_1679delinsAC
n.1645_1646delinsAC
19g.11113705delCA16602331LDLRc.1787del (p.Thr596SerfsTer?)
c.1529del (p.Thr510SerfsTer?)
c.1409del (p.Thr470SerfsTer?)
c.1783del
c.1025del (p.Thr342SerfsTer?)
c.1406del (p.Thr469SerfsTer?)
c.1148del (p.Thr383SerfsTer?)
c.250del
n.1679del
n.1646del
 ClinVar dbSNP
19g.11113705C>ACA404086524LDLRc.1787C>A (p.Thr596Lys)
c.1529C>A (p.Thr510Lys)
c.1409C>A (p.Thr470Lys)
c.1783C>A
c.1025C>A (p.Thr342Lys)
c.1406C>A (p.Thr469Lys)
c.1148C>A (p.Thr383Lys)
c.250C>A
n.1679C>A
n.1646C>A
19g.11113705C=CA2322772018LDLRc.1787C= (p.Thr596=)
c.1529C= (p.Thr510=)
c.1409C= (p.Thr470=)
c.1783C=
c.1025C= (p.Thr342=)
c.1406C= (p.Thr469=)
c.1148C= (p.Thr383=)
c.250C=
n.1679C=
n.1646C=
19g.11113705C>GCA404086525LDLRc.1787C>G (p.Thr596Arg)
c.1529C>G (p.Thr510Arg)
c.1409C>G (p.Thr470Arg)
c.1783C>G
c.1025C>G (p.Thr342Arg)
c.1406C>G (p.Thr469Arg)
c.1148C>G (p.Thr383Arg)
c.250C>G
n.1679C>G
n.1646C>G
19g.11113705C>TCA034662LDLRc.1787C>T (p.Thr596Met)
c.1529C>T (p.Thr510Met)
c.1409C>T (p.Thr470Met)
c.1783C>T
c.1025C>T (p.Thr342Met)
c.1406C>T (p.Thr469Met)
c.1148C>T (p.Thr383Met)
c.250C>T
n.1679C>T
n.1646C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113705_11113706delinsCGCA2322772019LDLRc.1787_1788delinsCG (p.Thr596=)
c.1529_1530delinsCG (p.Thr510=)
c.1409_1410delinsCG (p.Thr470=)
c.1783_1784delinsCG
c.1025_1026delinsCG (p.Thr342=)
c.1406_1407delinsCG (p.Thr469=)
c.1148_1149delinsCG (p.Thr383=)
c.250_251delinsCG
n.1679_1680delinsCG
n.1646_1647delinsCG
19g.11113706delCA645373233LDLRc.1788del (p.Leu597TyrfsTer?)
c.1530del (p.Leu511TyrfsTer?)
c.1410del (p.Leu471TyrfsTer?)
c.1784del
c.1026del (p.Leu343TyrfsTer?)
c.1407del (p.Leu470TyrfsTer?)
c.1149del (p.Leu384TyrfsTer?)
c.251del
n.1680del
n.1647del
 ClinVar dbSNP
19g.11113706G>ACA034680LDLRc.1788G>A (p.Thr596=)
c.1530G>A (p.Thr510=)
c.1410G>A (p.Thr470=)
c.1784G>A
c.1026G>A (p.Thr342=)
c.1407G>A (p.Thr469=)
c.1149G>A (p.Thr383=)
c.251G>A
n.1680G>A
n.1647G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11113706G>CCA505743299LDLRc.1788G>C (p.Thr596=)
c.1530G>C (p.Thr510=)
c.1410G>C (p.Thr470=)
c.1784G>C
c.1026G>C (p.Thr342=)
c.1407G>C (p.Thr469=)
c.1149G>C (p.Thr383=)
c.251G>C
n.1680G>C
n.1647G>C
19g.11113706G=CA2322772020LDLRc.1788G= (p.Thr596=)
c.1530G= (p.Thr510=)
c.1410G= (p.Thr470=)
c.1784G=
c.1026G= (p.Thr342=)
c.1407G= (p.Thr469=)
c.1149G= (p.Thr383=)
c.251G=
n.1680G=
n.1647G=
19g.11113706G>TCA505743300LDLRc.1788G>T (p.Thr596=)
c.1530G>T (p.Thr510=)
c.1410G>T (p.Thr470=)
c.1784G>T
c.1026G>T (p.Thr342=)
c.1407G>T (p.Thr469=)
c.1149G>T (p.Thr383=)
c.251G>T
n.1680G>T
n.1647G>T
19g.11113706_11113708delCA2497030069LDLRc.1788_1790del (p.Leu597del)
c.1530_1532del (p.Leu511del)
c.1410_1412del (p.Leu471del)
c.1784_1786del
c.1026_1028del (p.Leu343del)
c.1407_1409del (p.Leu470del)
c.1149_1151del (p.Leu384del)
c.251_253del
n.1680_1682del
n.1647_1649del
19g.11113707T>ACA404086526LDLRc.1789T>A (p.Leu597Ile)
c.1531T>A (p.Leu511Ile)
c.1411T>A (p.Leu471Ile)
c.1785T>A
c.1027T>A (p.Leu343Ile)
c.1408T>A (p.Leu470Ile)
c.1150T>A (p.Leu384Ile)
c.252T>A
n.1681T>A
n.1648T>A
19g.11113707T>CCA505743301LDLRc.1789T>C (p.Leu597=)
c.1531T>C (p.Leu511=)
c.1411T>C (p.Leu471=)
c.1785T>C
c.1027T>C (p.Leu343=)
c.1408T>C (p.Leu470=)
c.1150T>C (p.Leu384=)
c.252T>C
n.1681T>C
n.1648T>C
19g.11113707T>GCA404086527LDLRc.1789T>G (p.Leu597Val)
c.1531T>G (p.Leu511Val)
c.1411T>G (p.Leu471Val)
c.1785T>G
c.1027T>G (p.Leu343Val)
c.1408T>G (p.Leu470Val)
c.1150T>G (p.Leu384Val)
c.252T>G
n.1681T>G
n.1648T>G
19g.11113707_11113708dupCA2499225322LDLRc.1789_1790dup (p.Leu597PhefsTer?)
c.1531_1532dup (p.Leu511PhefsTer?)
c.1411_1412dup (p.Leu471PhefsTer?)
c.1785_1786dup
c.1027_1028dup (p.Leu343PhefsTer?)
c.1408_1409dup (p.Leu470PhefsTer?)
c.1150_1151dup (p.Leu384PhefsTer?)
c.252_253dup
n.1681_1682dup
n.1648_1649dup
 ClinVar dbSNP
19g.11113708T>ACA404086528LDLRc.1790T>A (p.Leu597Ter)
c.1532T>A (p.Leu511Ter)
c.1412T>A (p.Leu471Ter)
c.1786T>A
c.1028T>A (p.Leu343Ter)
c.1409T>A (p.Leu470Ter)
c.1151T>A (p.Leu384Ter)
c.253T>A
n.1682T>A
n.1649T>A
19g.11113708T>CCA10585493LDLRc.1790T>C (p.Leu597Ser)
c.1532T>C (p.Leu511Ser)
c.1412T>C (p.Leu471Ser)
c.1786T>C
c.1028T>C (p.Leu343Ser)
c.1409T>C (p.Leu470Ser)
c.1151T>C (p.Leu384Ser)
c.253T>C
n.1682T>C
n.1649T>C
 ClinVar dbSNP
19g.11113708T>GCA10585494LDLRc.1790T>G (p.Leu597Ter)
c.1532T>G (p.Leu511Ter)
c.1412T>G (p.Leu471Ter)
c.1786T>G
c.1028T>G (p.Leu343Ter)
c.1409T>G (p.Leu470Ter)
c.1151T>G (p.Leu384Ter)
c.253T>G
n.1682T>G
n.1649T>G
 ClinVar dbSNP
19g.11113708T=CA2322772021LDLRc.1790T= (p.Leu597=)
c.1532T= (p.Leu511=)
c.1412T= (p.Leu471=)
c.1786T=
c.1028T= (p.Leu343=)
c.1409T= (p.Leu470=)
c.1151T= (p.Leu384=)
c.253T=
n.1682T=
n.1649T=
19g.11113709A=CA2322772022LDLRc.1791A= (p.Leu597=)
c.1533A= (p.Leu511=)
c.1413A= (p.Leu471=)
c.1787A=
c.1029A= (p.Leu343=)
c.1410A= (p.Leu470=)
c.1152A= (p.Leu384=)
c.254A=
n.1683A=
n.1650A=
19g.11113709A>CCA404086530LDLRc.1791A>C (p.Leu597Phe)
c.1533A>C (p.Leu511Phe)
c.1413A>C (p.Leu471Phe)
c.1787A>C
c.1029A>C (p.Leu343Phe)
c.1410A>C (p.Leu470Phe)
c.1152A>C (p.Leu384Phe)
c.254A>C
n.1683A>C
n.1650A>C
19g.11113709A>GCA505743302LDLRc.1791A>G (p.Leu597=)
c.1533A>G (p.Leu511=)
c.1413A>G (p.Leu471=)
c.1787A>G
c.1029A>G (p.Leu343=)
c.1410A>G (p.Leu470=)
c.1152A>G (p.Leu384=)
c.254A>G
n.1683A>G
n.1650A>G
 ClinVar dbSNP
19g.11113709A>TCA404086529LDLRc.1791A>T (p.Leu597Phe)
c.1533A>T (p.Leu511Phe)
c.1413A>T (p.Leu471Phe)
c.1787A>T
c.1029A>T (p.Leu343Phe)
c.1410A>T (p.Leu470Phe)
c.1152A>T (p.Leu384Phe)
c.254A>T
n.1683A>T
n.1650A>T
 ClinVar dbSNP
19g.11113709dupCA10585495LDLRc.1791dup (p.Phe598IlefsTer24)
c.1533dup (p.Phe512IlefsTer24)
c.1413dup (p.Phe472IlefsTer24)
c.1787dup
c.1029dup (p.Phe344IlefsTer24)
c.1410dup (p.Phe471IlefsTer24)
c.1152dup (p.Phe385IlefsTer24)
c.254dup
n.1683dup
n.1650dup
 ClinVar dbSNP
19g.11113710T>ACA404086531LDLRc.1792T>A (p.Phe598Ile)
c.1534T>A (p.Phe512Ile)
c.1414T>A (p.Phe472Ile)
c.1788T>A
c.1030T>A (p.Phe344Ile)
c.1411T>A (p.Phe471Ile)
c.1153T>A (p.Phe385Ile)
c.255T>A
n.1684T>A
n.1651T>A
19g.11113710T>CCA404086532LDLRc.1792T>C (p.Phe598Leu)
c.1534T>C (p.Phe512Leu)
c.1414T>C (p.Phe472Leu)
c.1788T>C
c.1030T>C (p.Phe344Leu)
c.1411T>C (p.Phe471Leu)
c.1153T>C (p.Phe385Leu)
c.255T>C
n.1684T>C
n.1651T>C
19g.11113710T>GCA404086533LDLRc.1792T>G (p.Phe598Val)
c.1534T>G (p.Phe512Val)
c.1414T>G (p.Phe472Val)
c.1788T>G
c.1030T>G (p.Phe344Val)
c.1411T>G (p.Phe471Val)
c.1153T>G (p.Phe385Val)
c.255T>G
n.1684T>G
n.1651T>G
19g.11113711T>ACA404086534LDLRc.1793T>A (p.Phe598Tyr)
c.1535T>A (p.Phe512Tyr)
c.1415T>A (p.Phe472Tyr)
c.1789T>A
c.1031T>A (p.Phe344Tyr)
c.1412T>A (p.Phe471Tyr)
c.1154T>A (p.Phe385Tyr)
c.256T>A
n.1685T>A
n.1652T>A
19g.11113711T>CCA404086535LDLRc.1793T>C (p.Phe598Ser)
c.1535T>C (p.Phe512Ser)
c.1415T>C (p.Phe472Ser)
c.1789T>C
c.1031T>C (p.Phe344Ser)
c.1412T>C (p.Phe471Ser)
c.1154T>C (p.Phe385Ser)
c.256T>C
n.1685T>C
n.1652T>C
 gnomAD v4
19g.11113711T>GCA404086536LDLRc.1793T>G (p.Phe598Cys)
c.1535T>G (p.Phe512Cys)
c.1415T>G (p.Phe472Cys)
c.1789T>G
c.1031T>G (p.Phe344Cys)
c.1412T>G (p.Phe471Cys)
c.1154T>G (p.Phe385Cys)
c.256T>G
n.1685T>G
n.1652T>G
19g.11113712C>ACA404086537LDLRc.1794C>A (p.Phe598Leu)
c.1536C>A (p.Phe512Leu)
c.1416C>A (p.Phe472Leu)
c.1790C>A
c.1032C>A (p.Phe344Leu)
c.1413C>A (p.Phe471Leu)
c.1155C>A (p.Phe385Leu)
c.257C>A
n.1686C>A
n.1653C>A
19g.11113712C>GCA404086538LDLRc.1794C>G (p.Phe598Leu)
c.1536C>G (p.Phe512Leu)
c.1416C>G (p.Phe472Leu)
c.1790C>G
c.1032C>G (p.Phe344Leu)
c.1413C>G (p.Phe471Leu)
c.1155C>G (p.Phe385Leu)
c.257C>G
n.1686C>G
n.1653C>G
 dbSNP
19g.11113712C>TCA505743303LDLRc.1794C>T (p.Phe598=)
c.1536C>T (p.Phe512=)
c.1416C>T (p.Phe472=)
c.1790C>T
c.1032C>T (p.Phe344=)
c.1413C>T (p.Phe471=)
c.1155C>T (p.Phe385=)
c.257C>T
n.1686C>T
n.1653C>T
 gnomAD v4
19g.11113713A=CA2322772023LDLRc.1795A= (p.Arg599=)
c.1537A= (p.Arg513=)
c.1417A= (p.Arg473=)
c.1791A=
c.1033A= (p.Arg345=)
c.1414A= (p.Arg472=)
c.1156A= (p.Arg386=)
c.258A=
n.1687A=
n.1654A=
19g.11113713A>CCA505743304LDLRc.1795A>C (p.Arg599=)
c.1537A>C (p.Arg513=)
c.1417A>C (p.Arg473=)
c.1791A>C
c.1033A>C (p.Arg345=)
c.1414A>C (p.Arg472=)
c.1156A>C (p.Arg386=)
c.258A>C
n.1687A>C
n.1654A>C
19g.11113713A>GCA404086539LDLRc.1795A>G (p.Arg599Gly)
c.1537A>G (p.Arg513Gly)
c.1417A>G (p.Arg473Gly)
c.1791A>G
c.1033A>G (p.Arg345Gly)
c.1414A>G (p.Arg472Gly)
c.1156A>G (p.Arg386Gly)
c.258A>G
n.1687A>G
n.1654A>G
 dbSNP gnomAD v2 gnomAD v4
19g.11113713A>TCA404086540LDLRc.1795A>T (p.Arg599Trp)
c.1537A>T (p.Arg513Trp)
c.1417A>T (p.Arg473Trp)
c.1791A>T
c.1033A>T (p.Arg345Trp)
c.1414A>T (p.Arg472Trp)
c.1156A>T (p.Arg386Trp)
c.258A>T
n.1687A>T
n.1654A>T
19g.11113714G>ACA10585496LDLRc.1796G>A (p.Arg599Lys)
c.1538G>A (p.Arg513Lys)
c.1418G>A (p.Arg473Lys)
c.1792G>A
c.1034G>A (p.Arg345Lys)
c.1415G>A (p.Arg472Lys)
c.1157G>A (p.Arg386Lys)
c.259G>A
n.1688G>A
n.1655G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11113714G>CCA404086541LDLRc.1796G>C (p.Arg599Thr)
c.1538G>C (p.Arg513Thr)
c.1418G>C (p.Arg473Thr)
c.1792G>C
c.1034G>C (p.Arg345Thr)
c.1415G>C (p.Arg472Thr)
c.1157G>C (p.Arg386Thr)
c.259G>C
n.1688G>C
n.1655G>C
19g.11113714G=CA2322772024LDLRc.1796G= (p.Arg599=)
c.1538G= (p.Arg513=)
c.1418G= (p.Arg473=)
c.1792G=
c.1034G= (p.Arg345=)
c.1415G= (p.Arg472=)
c.1157G= (p.Arg386=)
c.259G=
n.1688G=
n.1655G=
19g.11113714G>TCA404086542LDLRc.1796G>T (p.Arg599Met)
c.1538G>T (p.Arg513Met)
c.1418G>T (p.Arg473Met)
c.1792G>T
c.1034G>T (p.Arg345Met)
c.1415G>T (p.Arg472Met)
c.1157G>T (p.Arg386Met)
c.259G>T
n.1688G>T
n.1655G>T
19g.11113716delCA2695228118LDLRc.1798del (p.Glu600ArgfsTer?)
c.1540del (p.Glu514ArgfsTer?)
c.1420del (p.Glu474ArgfsTer?)
c.1794del
c.1036del (p.Glu346ArgfsTer?)
c.1417del (p.Glu473ArgfsTer?)
c.1159del (p.Glu387ArgfsTer?)
c.261del
n.1690del
n.1657del
19g.11113715G>ACA505743305LDLRc.1797G>A (p.Arg599=)
c.1539G>A (p.Arg513=)
c.1419G>A (p.Arg473=)
c.1793G>A
c.1035G>A (p.Arg345=)
c.1416G>A (p.Arg472=)
c.1158G>A (p.Arg386=)
c.260G>A
n.1689G>A
n.1656G>A
19g.11113715G>CCA404086543LDLRc.1797G>C (p.Arg599Ser)
c.1539G>C (p.Arg513Ser)
c.1419G>C (p.Arg473Ser)
c.1793G>C
c.1035G>C (p.Arg345Ser)
c.1416G>C (p.Arg472Ser)
c.1158G>C (p.Arg386Ser)
c.260G>C
n.1689G>C
n.1656G>C
19g.11113715G>TCA404086544LDLRc.1797G>T (p.Arg599Ser)
c.1539G>T (p.Arg513Ser)
c.1419G>T (p.Arg473Ser)
c.1793G>T
c.1035G>T (p.Arg345Ser)
c.1416G>T (p.Arg472Ser)
c.1158G>T (p.Arg386Ser)
c.260G>T
n.1689G>T
n.1656G>T
19g.11113716G>ACA404086545LDLRc.1798G>A (p.Glu600Lys)
c.1540G>A (p.Glu514Lys)
c.1420G>A (p.Glu474Lys)
c.1794G>A
c.1036G>A (p.Glu346Lys)
c.1417G>A (p.Glu473Lys)
c.1159G>A (p.Glu387Lys)
c.261G>A
n.1690G>A
n.1657G>A
 ClinVar dbSNP
19g.11113716G>CCA404086547LDLRc.1798G>C (p.Glu600Gln)
c.1540G>C (p.Glu514Gln)
c.1420G>C (p.Glu474Gln)
c.1794G>C
c.1036G>C (p.Glu346Gln)
c.1417G>C (p.Glu473Gln)
c.1159G>C (p.Glu387Gln)
c.261G>C
n.1690G>C
n.1657G>C
19g.11113716G=CA2322772025LDLRc.1798G= (p.Glu600=)
c.1540G= (p.Glu514=)
c.1420G= (p.Glu474=)
c.1794G=
c.1036G= (p.Glu346=)
c.1417G= (p.Glu473=)
c.1159G= (p.Glu387=)
c.261G=
n.1690G=
n.1657G=
19g.11113716G>TCA404086546LDLRc.1798G>T (p.Glu600Ter)
c.1540G>T (p.Glu514Ter)
c.1420G>T (p.Glu474Ter)
c.1794G>T
c.1036G>T (p.Glu346Ter)
c.1417G>T (p.Glu473Ter)
c.1159G>T (p.Glu387Ter)
c.261G>T
n.1690G>T
n.1657G>T
 ClinVar dbSNP
19g.11113717A>CCA404086548LDLRc.1799A>C (p.Glu600Ala)
c.1541A>C (p.Glu514Ala)
c.1421A>C (p.Glu474Ala)
c.1795A>C
c.1037A>C (p.Glu346Ala)
c.1418A>C (p.Glu473Ala)
c.1160A>C (p.Glu387Ala)
c.262A>C
n.1691A>C
n.1658A>C
19g.11113717A>GCA404086549LDLRc.1799A>G (p.Glu600Gly)
c.1541A>G (p.Glu514Gly)
c.1421A>G (p.Glu474Gly)
c.1795A>G
c.1037A>G (p.Glu346Gly)
c.1418A>G (p.Glu473Gly)
c.1160A>G (p.Glu387Gly)
c.262A>G
n.1691A>G
n.1658A>G
19g.11113717A>TCA404086550LDLRc.1799A>T (p.Glu600Val)
c.1541A>T (p.Glu514Val)
c.1421A>T (p.Glu474Val)
c.1795A>T
c.1037A>T (p.Glu346Val)
c.1418A>T (p.Glu473Val)
c.1160A>T (p.Glu387Val)
c.262A>T
n.1691A>T
n.1658A>T
19g.11113718G>ACA505743306LDLRc.1800G>A (p.Glu600=)
c.1542G>A (p.Glu514=)
c.1422G>A (p.Glu474=)
c.1796G>A
c.1038G>A (p.Glu346=)
c.1419G>A (p.Glu473=)
c.1161G>A (p.Glu387=)
c.263G>A
n.1692G>A
n.1659G>A
19g.11113718G>CCA404086551LDLRc.1800G>C (p.Glu600Asp)
c.1542G>C (p.Glu514Asp)
c.1422G>C (p.Glu474Asp)
c.1796G>C
c.1038G>C (p.Glu346Asp)
c.1419G>C (p.Glu473Asp)
c.1161G>C (p.Glu387Asp)
c.263G>C
n.1692G>C
n.1659G>C
19g.11113718G>TCA404086552LDLRc.1800G>T (p.Glu600Asp)
c.1542G>T (p.Glu514Asp)
c.1422G>T (p.Glu474Asp)
c.1796G>T
c.1038G>T (p.Glu346Asp)
c.1419G>T (p.Glu473Asp)
c.1161G>T (p.Glu387Asp)
c.263G>T
n.1692G>T
n.1659G>T
 gnomAD v4
19g.11113719A>CCA404086553LDLRc.1801A>C (p.Asn601His)
c.1543A>C (p.Asn515His)
c.1423A>C (p.Asn475His)
c.1797A>C
c.1039A>C (p.Asn347His)
c.1420A>C (p.Asn474His)
c.1162A>C (p.Asn388His)
c.264A>C
n.1693A>C
n.1660A>C
19g.11113719A>GCA404086554LDLRc.1801A>G (p.Asn601Asp)
c.1543A>G (p.Asn515Asp)
c.1423A>G (p.Asn475Asp)
c.1797A>G
c.1039A>G (p.Asn347Asp)
c.1420A>G (p.Asn474Asp)
c.1162A>G (p.Asn388Asp)
c.264A>G
n.1693A>G
n.1660A>G
19g.11113719A>TCA404086555LDLRc.1801A>T (p.Asn601Tyr)
c.1543A>T (p.Asn515Tyr)
c.1423A>T (p.Asn475Tyr)
c.1797A>T
c.1039A>T (p.Asn347Tyr)
c.1420A>T (p.Asn474Tyr)
c.1162A>T (p.Asn388Tyr)
c.264A>T
n.1693A>T
n.1660A>T
19g.11113720A>CCA404086556LDLRc.1802A>C (p.Asn601Thr)
c.1544A>C (p.Asn515Thr)
c.1424A>C (p.Asn475Thr)
c.1798A>C
c.1040A>C (p.Asn347Thr)
c.1421A>C (p.Asn474Thr)
c.1163A>C (p.Asn388Thr)
c.265A>C
n.1694A>C
n.1661A>C
19g.11113720A>GCA404086557LDLRc.1802A>G (p.Asn601Ser)
c.1544A>G (p.Asn515Ser)
c.1424A>G (p.Asn475Ser)
c.1798A>G
c.1040A>G (p.Asn347Ser)
c.1421A>G (p.Asn474Ser)
c.1163A>G (p.Asn388Ser)
c.265A>G
n.1694A>G
n.1661A>G
19g.11113720A>TCA404086558LDLRc.1802A>T (p.Asn601Ile)
c.1544A>T (p.Asn515Ile)
c.1424A>T (p.Asn475Ile)
c.1798A>T
c.1040A>T (p.Asn347Ile)
c.1421A>T (p.Asn474Ile)
c.1163A>T (p.Asn388Ile)
c.265A>T
n.1694A>T
n.1661A>T
19g.11113721delCA2497030070LDLRc.1803del (p.Asn601LysfsTer?)
c.1545del (p.Asn515LysfsTer?)
c.1425del (p.Asn475LysfsTer?)
c.1799del
c.1041del (p.Asn347LysfsTer?)
c.1422del (p.Asn474LysfsTer?)
c.1164del (p.Asn388LysfsTer?)
c.266del
n.1695del
n.1662del
19g.11113721C>ACA404086559LDLRc.1803C>A (p.Asn601Lys)
c.1545C>A (p.Asn515Lys)
c.1425C>A (p.Asn475Lys)
c.1799C>A
c.1041C>A (p.Asn347Lys)
c.1422C>A (p.Asn474Lys)
c.1164C>A (p.Asn388Lys)
c.266C>A
n.1695C>A
n.1662C>A
19g.11113721C=CA2322772026LDLRc.1803C= (p.Asn601=)
c.1545C= (p.Asn515=)
c.1425C= (p.Asn475=)
c.1799C=
c.1041C= (p.Asn347=)
c.1422C= (p.Asn474=)
c.1164C= (p.Asn388=)
c.266C=
n.1695C=
n.1662C=
19g.11113721C>GCA404086560LDLRc.1803C>G (p.Asn601Lys)
c.1545C>G (p.Asn515Lys)
c.1425C>G (p.Asn475Lys)
c.1799C>G
c.1041C>G (p.Asn347Lys)
c.1422C>G (p.Asn474Lys)
c.1164C>G (p.Asn388Lys)
c.266C>G
n.1695C>G
n.1662C>G
 gnomAD v4
19g.11113721C>TCA034701LDLRc.1803C>T (p.Asn601=)
c.1545C>T (p.Asn515=)
c.1425C>T (p.Asn475=)
c.1799C>T
c.1041C>T (p.Asn347=)
c.1422C>T (p.Asn474=)
c.1164C>T (p.Asn388=)
c.266C>T
n.1695C>T
n.1662C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113722G>ACA034716LDLRc.1804G>A (p.Gly602Ser)
c.1546G>A (p.Gly516Ser)
c.1426G>A (p.Gly476Ser)
c.1800G>A
c.1042G>A (p.Gly348Ser)
c.1423G>A (p.Gly475Ser)
c.1165G>A (p.Gly389Ser)
c.267G>A
n.1696G>A
n.1663G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11113722G>CCA404086562LDLRc.1804G>C (p.Gly602Arg)
c.1546G>C (p.Gly516Arg)
c.1426G>C (p.Gly476Arg)
c.1800G>C
c.1042G>C (p.Gly348Arg)
c.1423G>C (p.Gly475Arg)
c.1165G>C (p.Gly389Arg)
c.267G>C
n.1696G>C
n.1663G>C
19g.11113722G=CA2322772027LDLRc.1804G= (p.Gly602=)
c.1546G= (p.Gly516=)
c.1426G= (p.Gly476=)
c.1800G=
c.1042G= (p.Gly348=)
c.1423G= (p.Gly475=)
c.1165G= (p.Gly389=)
c.267G=
n.1696G=
n.1663G=
19g.11113722G>TCA404086561LDLRc.1804G>T (p.Gly602Cys)
c.1546G>T (p.Gly516Cys)
c.1426G>T (p.Gly476Cys)
c.1800G>T
c.1042G>T (p.Gly348Cys)
c.1423G>T (p.Gly475Cys)
c.1165G>T (p.Gly389Cys)
c.267G>T
n.1696G>T
n.1663G>T
 gnomAD v4
19g.11113722_11113723delCA2573050602LDLRc.1804_1805del (p.Gly602LeufsTer19)
c.1546_1547del (p.Gly516LeufsTer19)
c.1426_1427del (p.Gly476LeufsTer19)
c.1800_1801del
c.1042_1043del (p.Gly348LeufsTer19)
c.1423_1424del (p.Gly475LeufsTer19)
c.1165_1166del (p.Gly389LeufsTer19)
c.267_268del
n.1696_1697del
n.1663_1664del
19g.11113722_11113729delinsGGCTCCAACA2322772028LDLRc.1804_1811delinsGGCTCCAA (p.Gly602=)
c.1546_1553delinsGGCTCCAA (p.Gly516=)
c.1426_1433delinsGGCTCCAA (p.Gly476=)
c.1800_1807delinsGGCTCCAA
c.1042_1049delinsGGCTCCAA (p.Gly348=)
c.1423_1430delinsGGCTCCAA (p.Gly475=)
c.1165_1172delinsGGCTCCAA (p.Gly389=)
c.267_274delinsGGCTCCAA
n.1696_1703delinsGGCTCCAA
n.1663_1670delinsGGCTCCAA
19g.11113723G>ACA023522LDLRc.1805G>A (p.Gly602Asp)
c.1547G>A (p.Gly516Asp)
c.1427G>A (p.Gly476Asp)
c.1801G>A
c.1043G>A (p.Gly348Asp)
c.1424G>A (p.Gly475Asp)
c.1166G>A (p.Gly389Asp)
c.268G>A
n.1697G>A
n.1664G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113723G>CCA404086563LDLRc.1805G>C (p.Gly602Ala)
c.1547G>C (p.Gly516Ala)
c.1427G>C (p.Gly476Ala)
c.1801G>C
c.1043G>C (p.Gly348Ala)
c.1424G>C (p.Gly475Ala)
c.1166G>C (p.Gly389Ala)
c.268G>C
n.1697G>C
n.1664G>C
19g.11113723G=CA2322772029LDLRc.1805G= (p.Gly602=)
c.1547G= (p.Gly516=)
c.1427G= (p.Gly476=)
c.1801G=
c.1043G= (p.Gly348=)
c.1424G= (p.Gly475=)
c.1166G= (p.Gly389=)
c.268G=
n.1697G=
n.1664G=
19g.11113723G>TCA404086564LDLRc.1805G>T (p.Gly602Val)
c.1547G>T (p.Gly516Val)
c.1427G>T (p.Gly476Val)
c.1801G>T
c.1043G>T (p.Gly348Val)
c.1424G>T (p.Gly475Val)
c.1166G>T (p.Gly389Val)
c.268G>T
n.1697G>T
n.1664G>T
19g.11113725_11113731delCA10585498LDLRc.1807_1813del (p.Ser603GlnfsTer29)
c.1549_1555del (p.Ser517GlnfsTer29)
c.1429_1435del (p.Ser477GlnfsTer29)
c.1803_1809del
c.1045_1051del (p.Ser349GlnfsTer29)
c.1426_1432del (p.Ser476GlnfsTer29)
c.1168_1174del (p.Ser390GlnfsTer29)
c.270_276del
n.1699_1705del
n.1666_1672del
 ClinVar dbSNP
19g.11113724C>ACA505743307LDLRc.1806C>A (p.Gly602=)
c.1548C>A (p.Gly516=)
c.1428C>A (p.Gly476=)
c.1802C>A
c.1044C>A (p.Gly348=)
c.1425C>A (p.Gly475=)
c.1167C>A (p.Gly389=)
c.269C>A
n.1698C>A
n.1665C>A
19g.11113724C>GCA505743308LDLRc.1806C>G (p.Gly602=)
c.1548C>G (p.Gly516=)
c.1428C>G (p.Gly476=)
c.1802C>G
c.1044C>G (p.Gly348=)
c.1425C>G (p.Gly475=)
c.1167C>G (p.Gly389=)
c.269C>G
n.1698C>G
n.1665C>G
19g.11113724C>TCA505743309LDLRc.1806C>T (p.Gly602=)
c.1548C>T (p.Gly516=)
c.1428C>T (p.Gly476=)
c.1802C>T
c.1044C>T (p.Gly348=)
c.1425C>T (p.Gly475=)
c.1167C>T (p.Gly389=)
c.269C>T
n.1698C>T
n.1665C>T
19g.11113725T>ACA404086565LDLRc.1807T>A (p.Ser603Thr)
c.1549T>A (p.Ser517Thr)
c.1429T>A (p.Ser477Thr)
c.1803T>A
c.1045T>A (p.Ser349Thr)
c.1426T>A (p.Ser476Thr)
c.1168T>A (p.Ser390Thr)
c.270T>A
n.1699T>A
n.1666T>A
19g.11113725T>CCA10585497LDLRc.1807T>C (p.Ser603Pro)
c.1549T>C (p.Ser517Pro)
c.1429T>C (p.Ser477Pro)
c.1803T>C
c.1045T>C (p.Ser349Pro)
c.1426T>C (p.Ser476Pro)
c.1168T>C (p.Ser390Pro)
c.270T>C
n.1699T>C
n.1666T>C
 ClinVar dbSNP
19g.11113725T>GCA404086566LDLRc.1807T>G (p.Ser603Ala)
c.1549T>G (p.Ser517Ala)
c.1429T>G (p.Ser477Ala)
c.1803T>G
c.1045T>G (p.Ser349Ala)
c.1426T>G (p.Ser476Ala)
c.1168T>G (p.Ser390Ala)
c.270T>G
n.1699T>G
n.1666T>G
 ClinVar
19g.11113725T=CA2322772030LDLRc.1807T= (p.Ser603=)
c.1549T= (p.Ser517=)
c.1429T= (p.Ser477=)
c.1803T=
c.1045T= (p.Ser349=)
c.1426T= (p.Ser476=)
c.1168T= (p.Ser390=)
c.270T=
n.1699T=
n.1666T=
19g.11113726C>ACA404086567LDLRc.1808C>A (p.Ser603Tyr)
c.1550C>A (p.Ser517Tyr)
c.1430C>A (p.Ser477Tyr)
c.1804C>A
c.1046C>A (p.Ser349Tyr)
c.1427C>A (p.Ser476Tyr)
c.1169C>A (p.Ser390Tyr)
c.271C>A
n.1700C>A
n.1667C>A
 COSMIC
19g.11113726C=CA2322772031LDLRc.1808C= (p.Ser603=)
c.1550C= (p.Ser517=)
c.1430C= (p.Ser477=)
c.1804C=
c.1046C= (p.Ser349=)
c.1427C= (p.Ser476=)
c.1169C= (p.Ser390=)
c.271C=
n.1700C=
n.1667C=
19g.11113726C>GCA034759LDLRc.1808C>G (p.Ser603Cys)
c.1550C>G (p.Ser517Cys)
c.1430C>G (p.Ser477Cys)
c.1804C>G
c.1046C>G (p.Ser349Cys)
c.1427C>G (p.Ser476Cys)
c.1169C>G (p.Ser390Cys)
c.271C>G
n.1700C>G
n.1667C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113726C>TCA404086568LDLRc.1808C>T (p.Ser603Phe)
c.1550C>T (p.Ser517Phe)
c.1430C>T (p.Ser477Phe)
c.1804C>T
c.1046C>T (p.Ser349Phe)
c.1427C>T (p.Ser476Phe)
c.1169C>T (p.Ser390Phe)
c.271C>T
n.1700C>T
n.1667C>T
 ClinVar dbSNP
19g.11113727C>ACA505743310LDLRc.1809C>A (p.Ser603=)
c.1551C>A (p.Ser517=)
c.1431C>A (p.Ser477=)
c.1805C>A
c.1047C>A (p.Ser349=)
c.1428C>A (p.Ser476=)
c.1170C>A (p.Ser390=)
c.272C>A
n.1701C>A
n.1668C>A
19g.11113727C=CA2322772032LDLRc.1809C= (p.Ser603=)
c.1551C= (p.Ser517=)
c.1431C= (p.Ser477=)
c.1805C=
c.1047C= (p.Ser349=)
c.1428C= (p.Ser476=)
c.1170C= (p.Ser390=)
c.272C=
n.1701C=
n.1668C=
19g.11113727C>GCA505743311LDLRc.1809C>G (p.Ser603=)
c.1551C>G (p.Ser517=)
c.1431C>G (p.Ser477=)
c.1805C>G
c.1047C>G (p.Ser349=)
c.1428C>G (p.Ser476=)
c.1170C>G (p.Ser390=)
c.272C>G
n.1701C>G
n.1668C>G
19g.11113727C>TCA505743312LDLRc.1809C>T (p.Ser603=)
c.1551C>T (p.Ser517=)
c.1431C>T (p.Ser477=)
c.1805C>T
c.1047C>T (p.Ser349=)
c.1428C>T (p.Ser476=)
c.1170C>T (p.Ser390=)
c.272C>T
n.1701C>T
n.1668C>T
 ClinVar dbSNP gnomAD v4
19g.11113728A=CA2322772033LDLRc.1810A= (p.Lys604=)
c.1552A= (p.Lys518=)
c.1432A= (p.Lys478=)
c.1806A=
c.1048A= (p.Lys350=)
c.1429A= (p.Lys477=)
c.1171A= (p.Lys391=)
c.273A=
n.1702A=
n.1669A=
19g.11113728A>CCA404086569LDLRc.1810A>C (p.Lys604Gln)
c.1552A>C (p.Lys518Gln)
c.1432A>C (p.Lys478Gln)
c.1806A>C
c.1048A>C (p.Lys350Gln)
c.1429A>C (p.Lys477Gln)
c.1171A>C (p.Lys391Gln)
c.273A>C
n.1702A>C
n.1669A>C
 dbSNP
19g.11113728A>GCA10585499LDLRc.1810A>G (p.Lys604Glu)
c.1552A>G (p.Lys518Glu)
c.1432A>G (p.Lys478Glu)
c.1806A>G
c.1048A>G (p.Lys350Glu)
c.1429A>G (p.Lys477Glu)
c.1171A>G (p.Lys391Glu)
c.273A>G
n.1702A>G
n.1669A>G
 ClinVar dbSNP gnomAD v4
19g.11113728A>TCA404086570LDLRc.1810A>T (p.Lys604Ter)
c.1552A>T (p.Lys518Ter)
c.1432A>T (p.Lys478Ter)
c.1806A>T
c.1048A>T (p.Lys350Ter)
c.1429A>T (p.Lys477Ter)
c.1171A>T (p.Lys391Ter)
c.273A>T
n.1702A>T
n.1669A>T
19g.11113728_11113729delinsCTGAATGCA2573050603LDLRc.1810_1811delinsCTGAATG (p.Lys604LeufsTer32)
c.1552_1553delinsCTGAATG (p.Lys518LeufsTer32)
c.1432_1433delinsCTGAATG (p.Lys478LeufsTer32)
c.1806_1807delinsCTGAATG
c.1048_1049delinsCTGAATG (p.Lys350LeufsTer32)
c.1429_1430delinsCTGAATG (p.Lys477LeufsTer32)
c.1171_1172delinsCTGAATG (p.Lys391LeufsTer32)
c.273_274delinsCTGAATG
n.1702_1703delinsCTGAATG
n.1669_1670delinsCTGAATG
19g.11113729A=CA2322772034LDLRc.1811A= (p.Lys604=)
c.1553A= (p.Lys518=)
c.1433A= (p.Lys478=)
c.1807A=
c.1049A= (p.Lys350=)
c.1430A= (p.Lys477=)
c.1172A= (p.Lys391=)
c.274A=
n.1703A=
n.1670A=
19g.11113729A>CCA404086571LDLRc.1811A>C (p.Lys604Thr)
c.1553A>C (p.Lys518Thr)
c.1433A>C (p.Lys478Thr)
c.1807A>C
c.1049A>C (p.Lys350Thr)
c.1430A>C (p.Lys477Thr)
c.1172A>C (p.Lys391Thr)
c.274A>C
n.1703A>C
n.1670A>C
19g.11113729A>GCA10585500LDLRc.1811A>G (p.Lys604Arg)
c.1553A>G (p.Lys518Arg)
c.1433A>G (p.Lys478Arg)
c.1807A>G
c.1049A>G (p.Lys350Arg)
c.1430A>G (p.Lys477Arg)
c.1172A>G (p.Lys391Arg)
c.274A>G
n.1703A>G
n.1670A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11113729A>TCA404086572LDLRc.1811A>T (p.Lys604Met)
c.1553A>T (p.Lys518Met)
c.1433A>T (p.Lys478Met)
c.1807A>T
c.1049A>T (p.Lys350Met)
c.1430A>T (p.Lys477Met)
c.1172A>T (p.Lys391Met)
c.274A>T
n.1703A>T
n.1670A>T
19g.11113730G>ACA505743313LDLRc.1812G>A (p.Lys604=)
c.1554G>A (p.Lys518=)
c.1434G>A (p.Lys478=)
c.1808G>A
c.1050G>A (p.Lys350=)
c.1431G>A (p.Lys477=)
c.1173G>A (p.Lys391=)
c.275G>A
n.1704G>A
n.1671G>A
 ClinVar gnomAD v4
19g.11113730G>CCA404086573LDLRc.1812G>C (p.Lys604Asn)
c.1554G>C (p.Lys518Asn)
c.1434G>C (p.Lys478Asn)
c.1808G>C
c.1050G>C (p.Lys350Asn)
c.1431G>C (p.Lys477Asn)
c.1173G>C (p.Lys391Asn)
c.275G>C
n.1704G>C
n.1671G>C
 ClinVar
19g.11113730G>TCA404086574LDLRc.1812G>T (p.Lys604Asn)
c.1554G>T (p.Lys518Asn)
c.1434G>T (p.Lys478Asn)
c.1808G>T
c.1050G>T (p.Lys350Asn)
c.1431G>T (p.Lys477Asn)
c.1173G>T (p.Lys391Asn)
c.275G>T
n.1704G>T
n.1671G>T
19g.11113731C>ACA10576309LDLRc.1813C>A (p.Pro605Thr)
c.1555C>A (p.Pro519Thr)
c.1435C>A (p.Pro479Thr)
c.1809C>A
c.1051C>A (p.Pro351Thr)
c.1432C>A (p.Pro478Thr)
c.1174C>A (p.Pro392Thr)
c.276C>A
n.1705C>A
n.1672C>A
 ClinVar dbSNP gnomAD v4
19g.11113731C=CA2322772035LDLRc.1813C= (p.Pro605=)
c.1555C= (p.Pro519=)
c.1435C= (p.Pro479=)
c.1809C=
c.1051C= (p.Pro351=)
c.1432C= (p.Pro478=)
c.1174C= (p.Pro392=)
c.276C=
n.1705C=
n.1672C=
19g.11113731C>GCA404086575LDLRc.1813C>G (p.Pro605Ala)
c.1555C>G (p.Pro519Ala)
c.1435C>G (p.Pro479Ala)
c.1809C>G
c.1051C>G (p.Pro351Ala)
c.1432C>G (p.Pro478Ala)
c.1174C>G (p.Pro392Ala)
c.276C>G
n.1705C>G
n.1672C>G
 gnomAD v4
19g.11113731C>TCA10585501LDLRc.1813C>T (p.Pro605Ser)
c.1555C>T (p.Pro519Ser)
c.1435C>T (p.Pro479Ser)
c.1809C>T
c.1051C>T (p.Pro351Ser)
c.1432C>T (p.Pro478Ser)
c.1174C>T (p.Pro392Ser)
c.276C>T
n.1705C>T
n.1672C>T
 ClinVar dbSNP
19g.11113731_11113732insACACCCAACA2813598416LDLRc.1813_1814insACACCCAA (p.Pro605HisfsTer32)
c.1555_1556insACACCCAA (p.Pro519HisfsTer32)
c.1435_1436insACACCCAA (p.Pro479HisfsTer32)
c.1809_1810insACACCCAA
c.1051_1052insACACCCAA (p.Pro351HisfsTer32)
c.1432_1433insACACCCAA (p.Pro478HisfsTer32)
c.1174_1175insACACCCAA (p.Pro392HisfsTer32)
c.276_277insACACCCAA
n.1705_1706insACACCCAA
n.1672_1673insACACCCAA
19g.11113731_11113732insACACCCAACACA2813598417LDLRc.1813_1814insACACCCAACA (p.Pro605HisfsTer20)
c.1555_1556insACACCCAACA (p.Pro519HisfsTer20)
c.1435_1436insACACCCAACA (p.Pro479HisfsTer20)
c.1809_1810insACACCCAACA
c.1051_1052insACACCCAACA (p.Pro351HisfsTer20)
c.1432_1433insACACCCAACA (p.Pro478HisfsTer20)
c.1174_1175insACACCCAACA (p.Pro392HisfsTer20)
c.276_277insACACCCAACA
n.1705_1706insACACCCAACA
n.1672_1673insACACCCAACA
19g.11113731_11113732insAAACACACCCAACACA2813598415LDLRc.1813_1814insAAACACACCCAACA (p.Pro605GlnfsTer34)
c.1555_1556insAAACACACCCAACA (p.Pro519GlnfsTer34)
c.1435_1436insAAACACACCCAACA (p.Pro479GlnfsTer34)
c.1809_1810insAAACACACCCAACA
c.1051_1052insAAACACACCCAACA (p.Pro351GlnfsTer34)
c.1432_1433insAAACACACCCAACA (p.Pro478GlnfsTer34)
c.1174_1175insAAACACACCCAACA (p.Pro392GlnfsTer34)
c.276_277insAAACACACCCAACA
n.1705_1706insAAACACACCCAACA
n.1672_1673insAAACACACCCAACA
19g.11113732C>ACA404086576LDLRc.1814C>A (p.Pro605Gln)
c.1556C>A (p.Pro519Gln)
c.1436C>A (p.Pro479Gln)
c.1810C>A
c.1052C>A (p.Pro351Gln)
c.1433C>A (p.Pro478Gln)
c.1175C>A (p.Pro392Gln)
c.277C>A
n.1706C>A
n.1673C>A
19g.11113732C>GCA404086577LDLRc.1814C>G (p.Pro605Arg)
c.1556C>G (p.Pro519Arg)
c.1436C>G (p.Pro479Arg)
c.1810C>G
c.1052C>G (p.Pro351Arg)
c.1433C>G (p.Pro478Arg)
c.1175C>G (p.Pro392Arg)
c.277C>G
n.1706C>G
n.1673C>G
19g.11113732C>TCA404086578LDLRc.1814C>T (p.Pro605Leu)
c.1556C>T (p.Pro519Leu)
c.1436C>T (p.Pro479Leu)
c.1810C>T
c.1052C>T (p.Pro351Leu)
c.1433C>T (p.Pro478Leu)
c.1175C>T (p.Pro392Leu)
c.277C>T
n.1706C>T
n.1673C>T
19g.11113733A>CCA505743314LDLRc.1815A>C (p.Pro605=)
c.1557A>C (p.Pro519=)
c.1437A>C (p.Pro479=)
c.1811A>C
c.1053A>C (p.Pro351=)
c.1434A>C (p.Pro478=)
c.1176A>C (p.Pro392=)
c.278A>C
n.1707A>C
n.1674A>C
19g.11113733A>GCA505743315LDLRc.1815A>G (p.Pro605=)
c.1557A>G (p.Pro519=)
c.1437A>G (p.Pro479=)
c.1811A>G
c.1053A>G (p.Pro351=)
c.1434A>G (p.Pro478=)
c.1176A>G (p.Pro392=)
c.278A>G
n.1707A>G
n.1674A>G
19g.11113733A>TCA505743316LDLRc.1815A>T (p.Pro605=)
c.1557A>T (p.Pro519=)
c.1437A>T (p.Pro479=)
c.1811A>T
c.1053A>T (p.Pro351=)
c.1434A>T (p.Pro478=)
c.1176A>T (p.Pro392=)
c.278A>T
n.1707A>T
n.1674A>T
19g.11113734A=CA2322772036LDLRc.1816A= (p.Arg606=)
c.1558A= (p.Arg520=)
c.1438A= (p.Arg480=)
c.1812A=
c.1054A= (p.Arg352=)
c.1435A= (p.Arg479=)
c.1177A= (p.Arg393=)
c.279A=
n.1708A=
n.1675A=
19g.11113734A>CCA505743317LDLRc.1816A>C (p.Arg606=)
c.1558A>C (p.Arg520=)
c.1438A>C (p.Arg480=)
c.1812A>C
c.1054A>C (p.Arg352=)
c.1435A>C (p.Arg479=)
c.1177A>C (p.Arg393=)
c.279A>C
n.1708A>C
n.1675A>C
 dbSNP gnomAD v3 gnomAD v4
19g.11113734A>GCA10585502LDLRc.1816A>G (p.Arg606Gly)
c.1558A>G (p.Arg520Gly)
c.1438A>G (p.Arg480Gly)
c.1812A>G
c.1054A>G (p.Arg352Gly)
c.1435A>G (p.Arg479Gly)
c.1177A>G (p.Arg393Gly)
c.279A>G
n.1708A>G
n.1675A>G
 ClinVar dbSNP
19g.11113734A>TCA404086579LDLRc.1816A>T (p.Arg606Trp)
c.1558A>T (p.Arg520Trp)
c.1438A>T (p.Arg480Trp)
c.1812A>T
c.1054A>T (p.Arg352Trp)
c.1435A>T (p.Arg479Trp)
c.1177A>T (p.Arg393Trp)
c.279A>T
n.1708A>T
n.1675A>T
19g.11113735G>ACA404086582LDLRc.1817G>A (p.Arg606Lys)
c.1559G>A (p.Arg520Lys)
c.1439G>A (p.Arg480Lys)
c.1813G>A
c.1055G>A (p.Arg352Lys)
c.1436G>A (p.Arg479Lys)
c.1178G>A (p.Arg393Lys)
c.280G>A
n.1709G>A
n.1676G>A
19g.11113735G>CCA404086581LDLRc.1817G>C (p.Arg606Thr)
c.1559G>C (p.Arg520Thr)
c.1439G>C (p.Arg480Thr)
c.1813G>C
c.1055G>C (p.Arg352Thr)
c.1436G>C (p.Arg479Thr)
c.1178G>C (p.Arg393Thr)
c.280G>C
n.1709G>C
n.1676G>C
19g.11113735G>TCA404086580LDLRc.1817G>T (p.Arg606Met)
c.1559G>T (p.Arg520Met)
c.1439G>T (p.Arg480Met)
c.1813G>T
c.1055G>T (p.Arg352Met)
c.1436G>T (p.Arg479Met)
c.1178G>T (p.Arg393Met)
c.280G>T
n.1709G>T
n.1676G>T
 ClinVar
19g.11113736G>ACA505743318LDLRc.1818G>A (p.Arg606=)
c.1560G>A (p.Arg520=)
c.1440G>A (p.Arg480=)
c.1814G>A
c.1056G>A (p.Arg352=)
c.1437G>A (p.Arg479=)
c.1179G>A (p.Arg393=)
c.281G>A
n.1710G>A
n.1677G>A
19g.11113736G>CCA404086584LDLRc.1818G>C (p.Arg606Ser)
c.1560G>C (p.Arg520Ser)
c.1440G>C (p.Arg480Ser)
c.1814G>C
c.1056G>C (p.Arg352Ser)
c.1437G>C (p.Arg479Ser)
c.1179G>C (p.Arg393Ser)
c.281G>C
n.1710G>C
n.1677G>C
19g.11113736G>TCA404086583LDLRc.1818G>T (p.Arg606Ser)
c.1560G>T (p.Arg520Ser)
c.1440G>T (p.Arg480Ser)
c.1814G>T
c.1056G>T (p.Arg352Ser)
c.1437G>T (p.Arg479Ser)
c.1179G>T (p.Arg393Ser)
c.281G>T
n.1710G>T
n.1677G>T
19g.11113737G>ACA10585503LDLRc.1819G>A (p.Ala607Thr)
c.1561G>A (p.Ala521Thr)
c.1441G>A (p.Ala481Thr)
c.1815G>A
c.1057G>A (p.Ala353Thr)
c.1438G>A (p.Ala480Thr)
c.1180G>A (p.Ala394Thr)
c.282G>A
n.1711G>A
n.1678G>A
 ClinVar dbSNP COSMIC
19g.11113737G>CCA404086585LDLRc.1819G>C (p.Ala607Pro)
c.1561G>C (p.Ala521Pro)
c.1441G>C (p.Ala481Pro)
c.1815G>C
c.1057G>C (p.Ala353Pro)
c.1438G>C (p.Ala480Pro)
c.1180G>C (p.Ala394Pro)
c.282G>C
n.1711G>C
n.1678G>C
19g.11113737G=CA2322772037LDLRc.1819G= (p.Ala607=)
c.1561G= (p.Ala521=)
c.1441G= (p.Ala481=)
c.1815G=
c.1057G= (p.Ala353=)
c.1438G= (p.Ala480=)
c.1180G= (p.Ala394=)
c.282G=
n.1711G=
n.1678G=
19g.11113737G>TCA404086586LDLRc.1819G>T (p.Ala607Ser)
c.1561G>T (p.Ala521Ser)
c.1441G>T (p.Ala481Ser)
c.1815G>T
c.1057G>T (p.Ala353Ser)
c.1438G>T (p.Ala480Ser)
c.1180G>T (p.Ala394Ser)
c.282G>T
n.1711G>T
n.1678G>T
 ClinVar dbSNP
19g.11113737_11113738delCA2573050604LDLRc.1819_1820del (p.Ala607HisfsTer14)
c.1561_1562del (p.Ala521HisfsTer14)
c.1441_1442del (p.Ala481HisfsTer14)
c.1815_1816del
c.1057_1058del (p.Ala353HisfsTer14)
c.1438_1439del (p.Ala480HisfsTer14)
c.1180_1181del (p.Ala394HisfsTer14)
c.282_283del
n.1711_1712del
n.1678_1679del
19g.11113738C>ACA404086587LDLRc.1820C>A (p.Ala607Asp)
c.1562C>A (p.Ala521Asp)
c.1442C>A (p.Ala481Asp)
c.1816C>A
c.1058C>A (p.Ala353Asp)
c.1439C>A (p.Ala480Asp)
c.1181C>A (p.Ala394Asp)
c.283C>A
n.1712C>A
n.1679C>A
19g.11113738C=CA2322772038LDLRc.1820C= (p.Ala607=)
c.1562C= (p.Ala521=)
c.1442C= (p.Ala481=)
c.1816C=
c.1058C= (p.Ala353=)
c.1439C= (p.Ala480=)
c.1181C= (p.Ala394=)
c.283C=
n.1712C=
n.1679C=
19g.11113738C>GCA404086588LDLRc.1820C>G (p.Ala607Gly)
c.1562C>G (p.Ala521Gly)
c.1442C>G (p.Ala481Gly)
c.1816C>G
c.1058C>G (p.Ala353Gly)
c.1439C>G (p.Ala480Gly)
c.1181C>G (p.Ala394Gly)
c.283C>G
n.1712C>G
n.1679C>G
 gnomAD v4
19g.11113738C>TCA034778LDLRc.1820C>T (p.Ala607Val)
c.1562C>T (p.Ala521Val)
c.1442C>T (p.Ala481Val)
c.1816C>T
c.1058C>T (p.Ala353Val)
c.1439C>T (p.Ala480Val)
c.1181C>T (p.Ala394Val)
c.283C>T
n.1712C>T
n.1679C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113739C>ACA505743319LDLRc.1821C>A (p.Ala607=)
c.1563C>A (p.Ala521=)
c.1443C>A (p.Ala481=)
c.1817C>A
c.1059C>A (p.Ala353=)
c.1440C>A (p.Ala480=)
c.1182C>A (p.Ala394=)
c.284C>A
n.1713C>A
n.1680C>A
19g.11113739C=CA2322772039LDLRc.1821C= (p.Ala607=)
c.1563C= (p.Ala521=)
c.1443C= (p.Ala481=)
c.1817C=
c.1059C= (p.Ala353=)
c.1440C= (p.Ala480=)
c.1182C= (p.Ala394=)
c.284C=
n.1713C=
n.1680C=
19g.11113739C>GCA505743320LDLRc.1821C>G (p.Ala607=)
c.1563C>G (p.Ala521=)
c.1443C>G (p.Ala481=)
c.1817C>G
c.1059C>G (p.Ala353=)
c.1440C>G (p.Ala480=)
c.1182C>G (p.Ala394=)
c.284C>G
n.1713C>G
n.1680C>G
19g.11113739C>TCA505743321LDLRc.1821C>T (p.Ala607=)
c.1563C>T (p.Ala521=)
c.1443C>T (p.Ala481=)
c.1817C>T
c.1059C>T (p.Ala353=)
c.1440C>T (p.Ala480=)
c.1182C>T (p.Ala394=)
c.284C>T
n.1713C>T
n.1680C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.11113740A=CA2322772040LDLRc.1822A= (p.Ile608=)
c.1564A= (p.Ile522=)
c.1444A= (p.Ile482=)
c.1818A=
c.1060A= (p.Ile354=)
c.1441A= (p.Ile481=)
c.1183A= (p.Ile395=)
c.285A=
n.1714A=
n.1681A=
19g.11113740A>CCA404086589LDLRc.1822A>C (p.Ile608Leu)
c.1564A>C (p.Ile522Leu)
c.1444A>C (p.Ile482Leu)
c.1818A>C
c.1060A>C (p.Ile354Leu)
c.1441A>C (p.Ile481Leu)
c.1183A>C (p.Ile395Leu)
c.285A>C
n.1714A>C
n.1681A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11113740A>GCA034793LDLRc.1822A>G (p.Ile608Val)
c.1564A>G (p.Ile522Val)
c.1444A>G (p.Ile482Val)
c.1818A>G
c.1060A>G (p.Ile354Val)
c.1441A>G (p.Ile481Val)
c.1183A>G (p.Ile395Val)
c.285A>G
n.1714A>G
n.1681A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113740A>TCA404086590LDLRc.1822A>T (p.Ile608Phe)
c.1564A>T (p.Ile522Phe)
c.1444A>T (p.Ile482Phe)
c.1818A>T
c.1060A>T (p.Ile354Phe)
c.1441A>T (p.Ile481Phe)
c.1183A>T (p.Ile395Phe)
c.285A>T
n.1714A>T
n.1681A>T
19g.11113741T>ACA404086591LDLRc.1823T>A (p.Ile608Asn)
c.1565T>A (p.Ile522Asn)
c.1445T>A (p.Ile482Asn)
c.1819T>A
c.1061T>A (p.Ile354Asn)
c.1442T>A (p.Ile481Asn)
c.1184T>A (p.Ile395Asn)
c.286T>A
n.1715T>A
n.1682T>A
19g.11113741T>CCA404086592LDLRc.1823T>C (p.Ile608Thr)
c.1565T>C (p.Ile522Thr)
c.1445T>C (p.Ile482Thr)
c.1819T>C
c.1061T>C (p.Ile354Thr)
c.1442T>C (p.Ile481Thr)
c.1184T>C (p.Ile395Thr)
c.286T>C
n.1715T>C
n.1682T>C
19g.11113741T>GCA404086593LDLRc.1823T>G (p.Ile608Ser)
c.1565T>G (p.Ile522Ser)
c.1445T>G (p.Ile482Ser)
c.1819T>G
c.1061T>G (p.Ile354Ser)
c.1442T>G (p.Ile481Ser)
c.1184T>G (p.Ile395Ser)
c.286T>G
n.1715T>G
n.1682T>G
 ClinVar dbSNP
19g.11113741T=CA2322772042LDLRc.1823T= (p.Ile608=)
c.1565T= (p.Ile522=)
c.1445T= (p.Ile482=)
c.1819T=
c.1061T= (p.Ile354=)
c.1442T= (p.Ile481=)
c.1184T= (p.Ile395=)
c.286T=
n.1715T=
n.1682T=
19g.11113741_11113742delinsTCCA2322772041LDLRc.1823_1824delinsTC (p.Ile608=)
c.1565_1566delinsTC (p.Ile522=)
c.1445_1446delinsTC (p.Ile482=)
c.1819_1820delinsTC
c.1061_1062delinsTC (p.Ile354=)
c.1442_1443delinsTC (p.Ile481=)
c.1184_1185delinsTC (p.Ile395=)
c.286_287delinsTC
n.1715_1716delinsTC
n.1682_1683delinsTC
19g.11113742delCA645373234LDLRc.1824del (p.Ile608MetfsTer26)
c.1566del (p.Ile522MetfsTer26)
c.1446del (p.Ile482MetfsTer26)
c.1820del
c.1062del (p.Ile354MetfsTer26)
c.1443del (p.Ile481MetfsTer26)
c.1185del (p.Ile395MetfsTer26)
c.287del
n.1716del
n.1683del
 ClinVar dbSNP
19g.11113742C>ACA505743322LDLRc.1824C>A (p.Ile608=)
c.1566C>A (p.Ile522=)
c.1446C>A (p.Ile482=)
c.1820C>A
c.1062C>A (p.Ile354=)
c.1443C>A (p.Ile481=)
c.1185C>A (p.Ile395=)
c.287C>A
n.1716C>A
n.1683C>A
 gnomAD v4
19g.11113742C=CA2322772043LDLRc.1824C= (p.Ile608=)
c.1566C= (p.Ile522=)
c.1446C= (p.Ile482=)
c.1820C=
c.1062C= (p.Ile354=)
c.1443C= (p.Ile481=)
c.1185C= (p.Ile395=)
c.287C=
n.1716C=
n.1683C=
19g.11113742C>GCA404086594LDLRc.1824C>G (p.Ile608Met)
c.1566C>G (p.Ile522Met)
c.1446C>G (p.Ile482Met)
c.1820C>G
c.1062C>G (p.Ile354Met)
c.1443C>G (p.Ile481Met)
c.1185C>G (p.Ile395Met)
c.287C>G
n.1716C>G
n.1683C>G
19g.11113742C>TCA034809LDLRc.1824C>T (p.Ile608=)
c.1566C>T (p.Ile522=)
c.1446C>T (p.Ile482=)
c.1820C>T
c.1062C>T (p.Ile354=)
c.1443C>T (p.Ile481=)
c.1185C>T (p.Ile395=)
c.287C>T
n.1716C>T
n.1683C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113742_11113745delinsCGTGCA2322772045LDLRc.1824_1827delinsCGTG (p.Ile608=)
c.1566_1569delinsCGTG (p.Ile522=)
c.1446_1449delinsCGTG (p.Ile482=)
c.1820_1823delinsCGTG
c.1062_1065delinsCGTG (p.Ile354=)
c.1443_1446delinsCGTG (p.Ile481=)
c.1185_1188delinsCGTG (p.Ile395=)
c.287_290delinsCGTG
n.1716_1719delinsCGTG
n.1683_1686delinsCGTG
19g.11113742_11113751delinsCGTGGTGGATCA2322772044LDLRc.1824_1833delinsCGTGGTGGAT (p.Ile608=)
c.1566_1575delinsCGTGGTGGAT (p.Ile522=)
c.1446_1455delinsCGTGGTGGAT (p.Ile482=)
c.1820_1829delinsCGTGGTGGAT
c.1062_1071delinsCGTGGTGGAT (p.Ile354=)
c.1443_1452delinsCGTGGTGGAT (p.Ile481=)
c.1185_1194delinsCGTGGTGGAT (p.Ile395=)
c.287_296delinsCGTGGTGGAT
n.1716_1725delinsCGTGGTGGAT
n.1683_1692delinsCGTGGTGGAT
19g.11113743G>ACA023525LDLRc.1825G>A (p.Val609Met)
c.1567G>A (p.Val523Met)
c.1447G>A (p.Val483Met)
c.1821G>A
c.1063G>A (p.Val355Met)
c.1444G>A (p.Val482Met)
c.1186G>A (p.Val396Met)
c.288G>A
n.1717G>A
n.1684G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113743G>CCA034835LDLRc.1825G>C (p.Val609Leu)
c.1567G>C (p.Val523Leu)
c.1447G>C (p.Val483Leu)
c.1821G>C
c.1063G>C (p.Val355Leu)
c.1444G>C (p.Val482Leu)
c.1186G>C (p.Val396Leu)
c.288G>C
n.1717G>C
n.1684G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113743G=CA2322772046LDLRc.1825G= (p.Val609=)
c.1567G= (p.Val523=)
c.1447G= (p.Val483=)
c.1821G=
c.1063G= (p.Val355=)
c.1444G= (p.Val482=)
c.1186G= (p.Val396=)
c.288G=
n.1717G=
n.1684G=
19g.11113743G>TCA10585504LDLRc.1825G>T (p.Val609Leu)
c.1567G>T (p.Val523Leu)
c.1447G>T (p.Val483Leu)
c.1821G>T
c.1063G>T (p.Val355Leu)
c.1444G>T (p.Val482Leu)
c.1186G>T (p.Val396Leu)
c.288G>T
n.1717G>T
n.1684G>T
 ClinVar dbSNP
19g.11113747_11113749delCA645373235LDLRc.1829_1831del (p.Val610del)
c.1571_1573del (p.Val524del)
c.1451_1453del (p.Val484del)
c.1825_1827del
c.1067_1069del (p.Val356del)
c.1448_1450del (p.Val483del)
c.1190_1192del (p.Val397del)
c.292_294del
n.1721_1723del
n.1688_1690del
 ClinVar dbSNP
19g.11113743_11113751delCA10585505LDLRc.1825_1833del (p.Val609_Asp611del)
c.1567_1575del (p.Val523_Asp525del)
c.1447_1455del (p.Val483_Asp485del)
c.1821_1829del
c.1063_1071del (p.Val355_Asp357del)
c.1444_1452del (p.Val482_Asp484del)
c.1186_1194del (p.Val396_Asp398del)
c.288_296del
n.1717_1725del
n.1684_1692del
 ClinVar dbSNP
19g.11113743_11113753delinsGTGGTGGATCCCA2322772047LDLRc.1825_1835delinsGTGGTGGATCC (p.Val609=)
c.1567_1577delinsGTGGTGGATCC (p.Val523=)
c.1447_1457delinsGTGGTGGATCC (p.Val483=)
c.1821_1831delinsGTGGTGGATCC
c.1063_1073delinsGTGGTGGATCC (p.Val355=)
c.1444_1454delinsGTGGTGGATCC (p.Val482=)
c.1186_1196delinsGTGGTGGATCC (p.Val396=)
c.288_298delinsGTGGTGGATCC
n.1717_1727delinsGTGGTGGATCC
n.1684_1694delinsGTGGTGGATCC
19g.11113744T>ACA404086595LDLRc.1826T>A (p.Val609Glu)
c.1568T>A (p.Val523Glu)
c.1448T>A (p.Val483Glu)
c.1822T>A
c.1064T>A (p.Val355Glu)
c.1445T>A (p.Val482Glu)
c.1187T>A (p.Val396Glu)
c.289T>A
n.1718T>A
n.1685T>A
19g.11113744T>CCA404086596LDLRc.1826T>C (p.Val609Ala)
c.1568T>C (p.Val523Ala)
c.1448T>C (p.Val483Ala)
c.1822T>C
c.1064T>C (p.Val355Ala)
c.1445T>C (p.Val482Ala)
c.1187T>C (p.Val396Ala)
c.289T>C
n.1718T>C
n.1685T>C
19g.11113744T>GCA404086597LDLRc.1826T>G (p.Val609Gly)
c.1568T>G (p.Val523Gly)
c.1448T>G (p.Val483Gly)
c.1822T>G
c.1064T>G (p.Val355Gly)
c.1445T>G (p.Val482Gly)
c.1187T>G (p.Val396Gly)
c.289T>G
n.1718T>G
n.1685T>G
19g.11113744dupCA1139771250LDLRc.1826dup (p.Val610GlyfsTer12)
c.1568dup (p.Val524GlyfsTer12)
c.1448dup (p.Val484GlyfsTer12)
c.1822dup
c.1064dup (p.Val356GlyfsTer12)
c.1445dup (p.Val483GlyfsTer12)
c.1187dup (p.Val397GlyfsTer12)
c.289dup
n.1718dup
n.1685dup
19g.11113746_11113755delCA645509281LDLRc.1828_1837del (p.Val610PhefsTer21)
c.1570_1579del (p.Val524PhefsTer21)
c.1450_1459del (p.Val484PhefsTer21)
c.1824_1833del
c.1066_1075del (p.Val356PhefsTer21)
c.1447_1456del (p.Val483PhefsTer21)
c.1189_1198del (p.Val397PhefsTer21)
c.291_300del
n.1720_1729del
n.1687_1696del
 ClinVar dbSNP
19g.11113745G>ACA505743323LDLRc.1827G>A (p.Val609=)
c.1569G>A (p.Val523=)
c.1449G>A (p.Val483=)
c.1823G>A
c.1065G>A (p.Val355=)
c.1446G>A (p.Val482=)
c.1188G>A (p.Val396=)
c.290G>A
n.1719G>A
n.1686G>A
19g.11113745G>CCA505743324LDLRc.1827G>C (p.Val609=)
c.1569G>C (p.Val523=)
c.1449G>C (p.Val483=)
c.1823G>C
c.1065G>C (p.Val355=)
c.1446G>C (p.Val482=)
c.1188G>C (p.Val396=)
c.290G>C
n.1719G>C
n.1686G>C
19g.11113745G=CA2322772049LDLRc.1827G= (p.Val609=)
c.1569G= (p.Val523=)
c.1449G= (p.Val483=)
c.1823G=
c.1065G= (p.Val355=)
c.1446G= (p.Val482=)
c.1188G= (p.Val396=)
c.290G=
n.1719G=
n.1686G=
19g.11113745G>TCA505743325LDLRc.1827G>T (p.Val609=)
c.1569G>T (p.Val523=)
c.1449G>T (p.Val483=)
c.1823G>T
c.1065G>T (p.Val355=)
c.1446G>T (p.Val482=)
c.1188G>T (p.Val396=)
c.290G>T
n.1719G>T
n.1686G>T
19g.11113746dupCA2695238661LDLRc.1828dup (p.Val610GlyfsTer12)
c.1570dup (p.Val524GlyfsTer12)
c.1450dup (p.Val484GlyfsTer12)
c.1824dup
c.1066dup (p.Val356GlyfsTer12)
c.1447dup (p.Val483GlyfsTer12)
c.1189dup (p.Val397GlyfsTer12)
c.291dup
n.1720dup
n.1687dup
19g.11113745_11113747delinsGGTCA2322772048LDLRc.1827_1829delinsGGT (p.Val609=)
c.1569_1571delinsGGT (p.Val523=)
c.1449_1451delinsGGT (p.Val483=)
c.1823_1825delinsGGT
c.1065_1067delinsGGT (p.Val355=)
c.1446_1448delinsGGT (p.Val482=)
c.1188_1190delinsGGT (p.Val396=)
c.290_292delinsGGT
n.1719_1721delinsGGT
n.1686_1688delinsGGT
19g.11113746G>ACA023529LDLRc.1828G>A (p.Val610Met)
c.1570G>A (p.Val524Met)
c.1450G>A (p.Val484Met)
c.1824G>A
c.1066G>A (p.Val356Met)
c.1447G>A (p.Val483Met)
c.1189G>A (p.Val397Met)
c.291G>A
n.1720G>A
n.1687G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113746G>CCA404086598LDLRc.1828G>C (p.Val610Leu)
c.1570G>C (p.Val524Leu)
c.1450G>C (p.Val484Leu)
c.1824G>C
c.1066G>C (p.Val356Leu)
c.1447G>C (p.Val483Leu)
c.1189G>C (p.Val397Leu)
c.291G>C
n.1720G>C
n.1687G>C
19g.11113746G=CA2322772050LDLRc.1828G= (p.Val610=)
c.1570G= (p.Val524=)
c.1450G= (p.Val484=)
c.1824G=
c.1066G= (p.Val356=)
c.1447G= (p.Val483=)
c.1189G= (p.Val397=)
c.291G=
n.1720G=
n.1687G=
19g.11113746G>TCA404086599LDLRc.1828G>T (p.Val610Leu)
c.1570G>T (p.Val524Leu)
c.1450G>T (p.Val484Leu)
c.1824G>T
c.1066G>T (p.Val356Leu)
c.1447G>T (p.Val483Leu)
c.1189G>T (p.Val397Leu)
c.291G>T
n.1720G>T
n.1687G>T
19g.11113747_11113748delCA16602332LDLRc.1829_1830del (p.Val610GlyfsTer11)
c.1571_1572del (p.Val524GlyfsTer11)
c.1451_1452del (p.Val484GlyfsTer11)
c.1825_1826del
c.1067_1068del (p.Val356GlyfsTer11)
c.1448_1449del (p.Val483GlyfsTer11)
c.1190_1191del (p.Val397GlyfsTer11)
c.292_293del
n.1721_1722del
n.1688_1689del
 ClinVar dbSNP
19g.11113747_11113765dupCA645509282LDLRc.1829_1844+3dup
c.1571_1586+3dup
c.1451_1466+3dup
c.1825_1840+3dup
c.1067_1082+3dup
c.1448_1463+3dup
c.1190_1205+3dup
c.292_307+3dup
n.1721_1736+3dup
n.1688_1703+3dup
 ClinVar dbSNP
19g.11113747T>ACA404086600LDLRc.1829T>A (p.Val610Glu)
c.1571T>A (p.Val524Glu)
c.1451T>A (p.Val484Glu)
c.1825T>A
c.1067T>A (p.Val356Glu)
c.1448T>A (p.Val483Glu)
c.1190T>A (p.Val397Glu)
c.292T>A
n.1721T>A
n.1688T>A
19g.11113747T>CCA404086601LDLRc.1829T>C (p.Val610Ala)
c.1571T>C (p.Val524Ala)
c.1451T>C (p.Val484Ala)
c.1825T>C
c.1067T>C (p.Val356Ala)
c.1448T>C (p.Val483Ala)
c.1190T>C (p.Val397Ala)
c.292T>C
n.1721T>C
n.1688T>C
19g.11113747T>GCA10585506LDLRc.1829T>G (p.Val610Gly)
c.1571T>G (p.Val524Gly)
c.1451T>G (p.Val484Gly)
c.1825T>G
c.1067T>G (p.Val356Gly)
c.1448T>G (p.Val483Gly)
c.1190T>G (p.Val397Gly)
c.292T>G
n.1721T>G
n.1688T>G
 ClinVar dbSNP
19g.11113747T=CA2322772051LDLRc.1829T= (p.Val610=)
c.1571T= (p.Val524=)
c.1451T= (p.Val484=)
c.1825T=
c.1067T= (p.Val356=)
c.1448T= (p.Val483=)
c.1190T= (p.Val397=)
c.292T=
n.1721T=
n.1688T=
19g.11113747_11113766delinsTGGATCCTGTTCATGGGTGCCA2322772052LDLRc.1829_1844+4delinsTGGATCCTGTTCATGGGTGC
c.1571_1586+4delinsTGGATCCTGTTCATGGGTGC
c.1451_1466+4delinsTGGATCCTGTTCATGGGTGC
c.1825_1840+4delinsTGGATCCTGTTCATGGGTGC
c.1067_1082+4delinsTGGATCCTGTTCATGGGTGC
c.1448_1463+4delinsTGGATCCTGTTCATGGGTGC
c.1190_1205+4delinsTGGATCCTGTTCATGGGTGC
c.292_307+4delinsTGGATCCTGTTCATGGGTGC
n.1721_1736+4delinsTGGATCCTGTTCATGGGTGC
n.1688_1703+4delinsTGGATCCTGTTCATGGGTGC
19g.11113748G>ACA505743326LDLRc.1830G>A (p.Val610=)
c.1572G>A (p.Val524=)
c.1452G>A (p.Val484=)
c.1826G>A
c.1068G>A (p.Val356=)
c.1449G>A (p.Val483=)
c.1191G>A (p.Val397=)
c.293G>A
n.1722G>A
n.1689G>A
19g.11113748G>CCA505743327LDLRc.1830G>C (p.Val610=)
c.1572G>C (p.Val524=)
c.1452G>C (p.Val484=)
c.1826G>C
c.1068G>C (p.Val356=)
c.1449G>C (p.Val483=)
c.1191G>C (p.Val397=)
c.293G>C
n.1722G>C
n.1689G>C
19g.11113748G>TCA505743328LDLRc.1830G>T (p.Val610=)
c.1572G>T (p.Val524=)
c.1452G>T (p.Val484=)
c.1826G>T
c.1068G>T (p.Val356=)
c.1449G>T (p.Val483=)
c.1191G>T (p.Val397=)
c.293G>T
n.1722G>T
n.1689G>T
19g.11113749_11113767delCA645373236LDLRc.1831_1844+5del
c.1573_1586+5del
c.1453_1466+5del
c.1827_1840+5del
c.1069_1082+5del
c.1450_1463+5del
c.1192_1205+5del
c.294_307+5del
n.1723_1736+5del
n.1690_1703+5del
 ClinVar dbSNP
19g.11113749G>ACA404086603LDLRc.1831G>A (p.Asp611Asn)
c.1573G>A (p.Asp525Asn)
c.1453G>A (p.Asp485Asn)
c.1827G>A
c.1069G>A (p.Asp357Asn)
c.1450G>A (p.Asp484Asn)
c.1192G>A (p.Asp398Asn)
c.294G>A
n.1723G>A
n.1690G>A
19g.11113749G>CCA404086604LDLRc.1831G>C (p.Asp611His)
c.1573G>C (p.Asp525His)
c.1453G>C (p.Asp485His)
c.1827G>C
c.1069G>C (p.Asp357His)
c.1450G>C (p.Asp484His)
c.1192G>C (p.Asp398His)
c.294G>C
n.1723G>C
n.1690G>C
19g.11113749G>TCA404086602LDLRc.1831G>T (p.Asp611Tyr)
c.1573G>T (p.Asp525Tyr)
c.1453G>T (p.Asp485Tyr)
c.1827G>T
c.1069G>T (p.Asp357Tyr)
c.1450G>T (p.Asp484Tyr)
c.1192G>T (p.Asp398Tyr)
c.294G>T
n.1723G>T
n.1690G>T
19g.11113750A=CA2322772053LDLRc.1832A= (p.Asp611=)
c.1574A= (p.Asp525=)
c.1454A= (p.Asp485=)
c.1828A=
c.1070A= (p.Asp357=)
c.1451A= (p.Asp484=)
c.1193A= (p.Asp398=)
c.295A=
n.1724A=
n.1691A=
19g.11113750A>CCA404086605LDLRc.1832A>C (p.Asp611Ala)
c.1574A>C (p.Asp525Ala)
c.1454A>C (p.Asp485Ala)
c.1828A>C
c.1070A>C (p.Asp357Ala)
c.1451A>C (p.Asp484Ala)
c.1193A>C (p.Asp398Ala)
c.295A>C
n.1724A>C
n.1691A>C
 ClinVar dbSNP
19g.11113750A>GCA404086606LDLRc.1832A>G (p.Asp611Gly)
c.1574A>G (p.Asp525Gly)
c.1454A>G (p.Asp485Gly)
c.1828A>G
c.1070A>G (p.Asp357Gly)
c.1451A>G (p.Asp484Gly)
c.1193A>G (p.Asp398Gly)
c.295A>G
n.1724A>G
n.1691A>G
19g.11113750A>TCA10585507LDLRc.1832A>T (p.Asp611Val)
c.1574A>T (p.Asp525Val)
c.1454A>T (p.Asp485Val)
c.1828A>T
c.1070A>T (p.Asp357Val)
c.1451A>T (p.Asp484Val)
c.1193A>T (p.Asp398Val)
c.295A>T
n.1724A>T
n.1691A>T
 ClinVar dbSNP gnomAD v4
19g.11113751T>ACA034873LDLRc.1833T>A (p.Asp611Glu)
c.1575T>A (p.Asp525Glu)
c.1455T>A (p.Asp485Glu)
c.1829T>A
c.1071T>A (p.Asp357Glu)
c.1452T>A (p.Asp484Glu)
c.1194T>A (p.Asp398Glu)
c.296T>A
n.1725T>A
n.1692T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113751T>CCA505743329LDLRc.1833T>C (p.Asp611=)
c.1575T>C (p.Asp525=)
c.1455T>C (p.Asp485=)
c.1829T>C
c.1071T>C (p.Asp357=)
c.1452T>C (p.Asp484=)
c.1194T>C (p.Asp398=)
c.296T>C
n.1725T>C
n.1692T>C
 ClinVar gnomAD v4
19g.11113751T>GCA404086607LDLRc.1833T>G (p.Asp611Glu)
c.1575T>G (p.Asp525Glu)
c.1455T>G (p.Asp485Glu)
c.1829T>G
c.1071T>G (p.Asp357Glu)
c.1452T>G (p.Asp484Glu)
c.1194T>G (p.Asp398Glu)
c.296T>G
n.1725T>G
n.1692T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11113751T=CA2322772054LDLRc.1833T= (p.Asp611=)
c.1575T= (p.Asp525=)
c.1455T= (p.Asp485=)
c.1829T=
c.1071T= (p.Asp357=)
c.1452T= (p.Asp484=)
c.1194T= (p.Asp398=)
c.296T=
n.1725T=
n.1692T=
19g.11113752C>ACA10585508LDLRc.1834C>A (p.Pro612Thr)
c.1576C>A (p.Pro526Thr)
c.1456C>A (p.Pro486Thr)
c.1830C>A
c.1072C>A (p.Pro358Thr)
c.1453C>A (p.Pro485Thr)
c.1195C>A (p.Pro399Thr)
c.297C>A
n.1726C>A
n.1693C>A
 ClinVar dbSNP
19g.11113752C=CA2322772055LDLRc.1834C= (p.Pro612=)
c.1576C= (p.Pro526=)
c.1456C= (p.Pro486=)
c.1830C=
c.1072C= (p.Pro358=)
c.1453C= (p.Pro485=)
c.1195C= (p.Pro399=)
c.297C=
n.1726C=
n.1693C=
19g.11113752C>GCA404086608LDLRc.1834C>G (p.Pro612Ala)
c.1576C>G (p.Pro526Ala)
c.1456C>G (p.Pro486Ala)
c.1830C>G
c.1072C>G (p.Pro358Ala)
c.1453C>G (p.Pro485Ala)
c.1195C>G (p.Pro399Ala)
c.297C>G
n.1726C>G
n.1693C>G
19g.11113752C>TCA023533LDLRc.1834C>T (p.Pro612Ser)
c.1576C>T (p.Pro526Ser)
c.1456C>T (p.Pro486Ser)
c.1830C>T
c.1072C>T (p.Pro358Ser)
c.1453C>T (p.Pro485Ser)
c.1195C>T (p.Pro399Ser)
c.297C>T
n.1726C>T
n.1693C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11113753C>ACA404086609LDLRc.1835C>A (p.Pro612His)
c.1577C>A (p.Pro526His)
c.1457C>A (p.Pro486His)
c.1831C>A
c.1073C>A (p.Pro358His)
c.1454C>A (p.Pro485His)
c.1196C>A (p.Pro399His)
c.298C>A
n.1727C>A
n.1694C>A
 ClinVar dbSNP
19g.11113753C=CA2322772056LDLRc.1835C= (p.Pro612=)
c.1577C= (p.Pro526=)
c.1457C= (p.Pro486=)
c.1831C=
c.1073C= (p.Pro358=)
c.1454C= (p.Pro485=)
c.1196C= (p.Pro399=)
c.298C=
n.1727C=
n.1694C=
19g.11113753C>GCA10585509LDLRc.1835C>G (p.Pro612Arg)
c.1577C>G (p.Pro526Arg)
c.1457C>G (p.Pro486Arg)
c.1831C>G
c.1073C>G (p.Pro358Arg)
c.1454C>G (p.Pro485Arg)
c.1196C>G (p.Pro399Arg)
c.298C>G
n.1727C>G
n.1694C>G
 ClinVar dbSNP
19g.11113753C>TCA404086610LDLRc.1835C>T (p.Pro612Leu)
c.1577C>T (p.Pro526Leu)
c.1457C>T (p.Pro486Leu)
c.1831C>T
c.1073C>T (p.Pro358Leu)
c.1454C>T (p.Pro485Leu)
c.1196C>T (p.Pro399Leu)
c.298C>T
n.1727C>T
n.1694C>T
 ClinVar dbSNP gnomAD v4
19g.11113754T>ACA505743330LDLRc.1836T>A (p.Pro612=)
c.1578T>A (p.Pro526=)
c.1458T>A (p.Pro486=)
c.1832T>A
c.1074T>A (p.Pro358=)
c.1455T>A (p.Pro485=)
c.1197T>A (p.Pro399=)
c.299T>A
n.1728T>A
n.1695T>A
19g.11113754T>CCA505743331LDLRc.1836T>C (p.Pro612=)
c.1578T>C (p.Pro526=)
c.1458T>C (p.Pro486=)
c.1832T>C
c.1074T>C (p.Pro358=)
c.1455T>C (p.Pro485=)
c.1197T>C (p.Pro399=)
c.299T>C
n.1728T>C
n.1695T>C
19g.11113754T>GCA505743332LDLRc.1836T>G (p.Pro612=)
c.1578T>G (p.Pro526=)
c.1458T>G (p.Pro486=)
c.1832T>G
c.1074T>G (p.Pro358=)
c.1455T>G (p.Pro485=)
c.1197T>G (p.Pro399=)
c.299T>G
n.1728T>G
n.1695T>G
19g.11113755G>ACA034912LDLRc.1837G>A (p.Val613Ile)
c.1579G>A (p.Val527Ile)
c.1459G>A (p.Val487Ile)
c.1833G>A
c.1075G>A (p.Val359Ile)
c.1456G>A (p.Val486Ile)
c.1198G>A (p.Val400Ile)
c.300G>A
n.1729G>A
n.1696G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113755G>CCA404086611LDLRc.1837G>C (p.Val613Leu)
c.1579G>C (p.Val527Leu)
c.1459G>C (p.Val487Leu)
c.1833G>C
c.1075G>C (p.Val359Leu)
c.1456G>C (p.Val486Leu)
c.1198G>C (p.Val400Leu)
c.300G>C
n.1729G>C
n.1696G>C
19g.11113755G=CA2322772057LDLRc.1837G= (p.Val613=)
c.1579G= (p.Val527=)
c.1459G= (p.Val487=)
c.1833G=
c.1075G= (p.Val359=)
c.1456G= (p.Val486=)
c.1198G= (p.Val400=)
c.300G=
n.1729G=
n.1696G=
19g.11113755G>TCA404086612LDLRc.1837G>T (p.Val613Phe)
c.1579G>T (p.Val527Phe)
c.1459G>T (p.Val487Phe)
c.1833G>T
c.1075G>T (p.Val359Phe)
c.1456G>T (p.Val486Phe)
c.1198G>T (p.Val400Phe)
c.300G>T
n.1729G>T
n.1696G>T
19g.11113756T>ACA404086614LDLRc.1838T>A (p.Val613Asp)
c.1580T>A (p.Val527Asp)
c.1460T>A (p.Val487Asp)
c.1834T>A
c.1076T>A (p.Val359Asp)
c.1457T>A (p.Val486Asp)
c.1199T>A (p.Val400Asp)
c.301T>A
n.1730T>A
n.1697T>A
19g.11113756T>CCA023535LDLRc.1838T>C (p.Val613Ala)
c.1580T>C (p.Val527Ala)
c.1460T>C (p.Val487Ala)
c.1834T>C
c.1076T>C (p.Val359Ala)
c.1457T>C (p.Val486Ala)
c.1199T>C (p.Val400Ala)
c.301T>C
n.1730T>C
n.1697T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113756T>GCA404086613LDLRc.1838T>G (p.Val613Gly)
c.1580T>G (p.Val527Gly)
c.1460T>G (p.Val487Gly)
c.1834T>G
c.1076T>G (p.Val359Gly)
c.1457T>G (p.Val486Gly)
c.1199T>G (p.Val400Gly)
c.301T>G
n.1730T>G
n.1697T>G
19g.11113756T=CA2322772058LDLRc.1838T= (p.Val613=)
c.1580T= (p.Val527=)
c.1460T= (p.Val487=)
c.1834T=
c.1076T= (p.Val359=)
c.1457T= (p.Val486=)
c.1199T= (p.Val400=)
c.301T=
n.1730T=
n.1697T=
19g.11113757T>ACA505743333LDLRc.1839T>A (p.Val613=)
c.1581T>A (p.Val527=)
c.1461T>A (p.Val487=)
c.1835T>A
c.1077T>A (p.Val359=)
c.1458T>A (p.Val486=)
c.1200T>A (p.Val400=)
c.302T>A
n.1731T>A
n.1698T>A
19g.11113757T>CCA505743334LDLRc.1839T>C (p.Val613=)
c.1581T>C (p.Val527=)
c.1461T>C (p.Val487=)
c.1835T>C
c.1077T>C (p.Val359=)
c.1458T>C (p.Val486=)
c.1200T>C (p.Val400=)
c.302T>C
n.1731T>C
n.1698T>C
19g.11113757T>GCA505743335LDLRc.1839T>G (p.Val613=)
c.1581T>G (p.Val527=)
c.1461T>G (p.Val487=)
c.1835T>G
c.1077T>G (p.Val359=)
c.1458T>G (p.Val486=)
c.1200T>G (p.Val400=)
c.302T>G
n.1731T>G
n.1698T>G

Number of alleles fetched