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.11113593_11113607delCA10585443LDLRc.1675_1689del (p.Ile559_Asp563del)
c.1417_1431del (p.Ile473_Asp477del)
c.1297_1311del (p.Ile433_Asp437del)
c.1671_1685del
c.913_927del (p.Ile305_Asp309del)
c.1294_1308del (p.Ile432_Asp436del)
c.1036_1050del (p.Ile346_Asp350del)
c.138_152del
c.897_911del
n.1567_1581del
n.1534_1548del
 ClinVar dbSNP
19g.11113594_11113608delCA2697556258LDLRc.1676_1690del (p.Ile559_Gly564delinsArg)
c.1418_1432del (p.Ile473_Gly478delinsArg)
c.1298_1312del (p.Ile433_Gly438delinsArg)
c.1672_1686del
c.914_928del (p.Ile305_Gly310delinsArg)
c.1295_1309del (p.Ile432_Gly437delinsArg)
c.1037_1051del (p.Ile346_Gly351delinsArg)
c.139_153del
c.898_912del
n.1568_1582del
n.1535_1549del
 ClinVar
19g.11113604_11113607delinsTTTCA2573320723LDLRc.1686_1689delinsTTT (p.Asp563LeufsTer30)
c.1428_1431delinsTTT (p.Asp477LeufsTer30)
c.1308_1311delinsTTT (p.Asp437LeufsTer30)
c.1682_1685delinsTTT
c.924_927delinsTTT (p.Asp309LeufsTer30)
c.1305_1308delinsTTT (p.Asp436LeufsTer30)
c.1047_1050delinsTTT (p.Asp350LeufsTer30)
c.149_152delinsTTT
c.908_911delinsTTT
n.1578_1581delinsTTT
n.1545_1548delinsTTT
19g.11113605G>ACA034365LDLRc.1687G>A (p.Asp563Asn)
c.1429G>A (p.Asp477Asn)
c.1309G>A (p.Asp437Asn)
c.1683G>A
c.925G>A (p.Asp309Asn)
c.1306G>A (p.Asp436Asn)
c.1048G>A (p.Asp350Asn)
c.150G>A
c.909G>A
n.1579G>A
n.1546G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.11113605G>CCA404085974LDLRc.1687G>C (p.Asp563His)
c.1429G>C (p.Asp477His)
c.1309G>C (p.Asp437His)
c.1683G>C
c.925G>C (p.Asp309His)
c.1306G>C (p.Asp436His)
c.1048G>C (p.Asp350His)
c.150G>C
c.909G>C
n.1579G>C
n.1546G>C
19g.11113605G=CA2322771931LDLRc.1687G= (p.Asp563=)
c.1429G= (p.Asp477=)
c.1309G= (p.Asp437=)
c.1683G=
c.925G= (p.Asp309=)
c.1306G= (p.Asp436=)
c.1048G= (p.Asp350=)
c.150G=
c.909G=
n.1579G=
n.1546G=
19g.11113605G>TCA404085970LDLRc.1687G>T (p.Asp563Tyr)
c.1429G>T (p.Asp477Tyr)
c.1309G>T (p.Asp437Tyr)
c.1683G>T
c.925G>T (p.Asp309Tyr)
c.1306G>T (p.Asp436Tyr)
c.1048G>T (p.Asp350Tyr)
c.150G>T
c.909G>T
n.1579G>T
n.1546G>T
19g.11113606A>CCA404085975LDLRc.1688A>C (p.Asp563Ala)
c.1430A>C (p.Asp477Ala)
c.1310A>C (p.Asp437Ala)
c.1684A>C
c.926A>C (p.Asp309Ala)
c.1307A>C (p.Asp436Ala)
c.1049A>C (p.Asp350Ala)
c.151A>C
c.910A>C
n.1580A>C
n.1547A>C
19g.11113606A>GCA404085976LDLRc.1688A>G (p.Asp563Gly)
c.1430A>G (p.Asp477Gly)
c.1310A>G (p.Asp437Gly)
c.1684A>G
c.926A>G (p.Asp309Gly)
c.1307A>G (p.Asp436Gly)
c.1049A>G (p.Asp350Gly)
c.151A>G
c.910A>G
n.1580A>G
n.1547A>G
19g.11113606A>TCA404085978LDLRc.1688A>T (p.Asp563Val)
c.1430A>T (p.Asp477Val)
c.1310A>T (p.Asp437Val)
c.1684A>T
c.926A>T (p.Asp309Val)
c.1307A>T (p.Asp436Val)
c.1049A>T (p.Asp350Val)
c.151A>T
c.910A>T
n.1580A>T
n.1547A>T
19g.11113607C>ACA404085980LDLRc.1689C>A (p.Asp563Glu)
c.1431C>A (p.Asp477Glu)
c.1311C>A (p.Asp437Glu)
c.1685C>A
c.927C>A (p.Asp309Glu)
c.1308C>A (p.Asp436Glu)
c.1050C>A (p.Asp350Glu)
c.152C>A
c.911C>A
n.1581C>A
n.1548C>A
 dbSNP
19g.11113607C=CA2322771932LDLRc.1689C= (p.Asp563=)
c.1431C= (p.Asp477=)
c.1311C= (p.Asp437=)
c.1685C=
c.927C= (p.Asp309=)
c.1308C= (p.Asp436=)
c.1050C= (p.Asp350=)
c.152C=
c.911C=
n.1581C=
n.1548C=
19g.11113607C>GCA305300102LDLRc.1689C>G (p.Asp563Glu)
c.1431C>G (p.Asp477Glu)
c.1311C>G (p.Asp437Glu)
c.1685C>G
c.927C>G (p.Asp309Glu)
c.1308C>G (p.Asp436Glu)
c.1050C>G (p.Asp350Glu)
c.152C>G
c.911C>G
n.1581C>G
n.1548C>G
 ClinVar dbSNP gnomAD v4
19g.11113607C>TCA034381LDLRc.1689C>T (p.Asp563=)
c.1431C>T (p.Asp477=)
c.1311C>T (p.Asp437=)
c.1685C>T
c.927C>T (p.Asp309=)
c.1308C>T (p.Asp436=)
c.1050C>T (p.Asp350=)
c.152C>T
c.911C>T
n.1581C>T
n.1548C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113607_11113608delinsCGCA2322771933LDLRc.1689_1690delinsCG (p.Asp563=)
c.1431_1432delinsCG (p.Asp477=)
c.1311_1312delinsCG (p.Asp437=)
c.1685_1686delinsCG
c.927_928delinsCG (p.Asp309=)
c.1308_1309delinsCG (p.Asp436=)
c.1050_1051delinsCG (p.Asp350=)
c.152_153delinsCG
c.911_912delinsCG
n.1581_1582delinsCG
n.1548_1549delinsCG
19g.11113608G>ACA023495LDLRc.1690G>A (p.Gly564Arg)
c.1432G>A (p.Gly478Arg)
c.1312G>A (p.Gly438Arg)
c.1686G>A
c.928G>A (p.Gly310Arg)
c.1309G>A (p.Gly437Arg)
c.1051G>A (p.Gly351Arg)
c.153G>A
c.912G>A
n.1582G>A
n.1549G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113608G>CCA404085987LDLRc.1690G>C (p.Gly564Arg)
c.1432G>C (p.Gly478Arg)
c.1312G>C (p.Gly438Arg)
c.1686G>C
c.928G>C (p.Gly310Arg)
c.1309G>C (p.Gly437Arg)
c.1051G>C (p.Gly351Arg)
c.153G>C
c.912G>C
n.1582G>C
n.1549G>C
19g.11113608G=CA2322771934LDLRc.1690G= (p.Gly564=)
c.1432G= (p.Gly478=)
c.1312G= (p.Gly438=)
c.1686G=
c.928G= (p.Gly310=)
c.1309G= (p.Gly437=)
c.1051G= (p.Gly351=)
c.153G=
c.912G=
n.1582G=
n.1549G=
19g.11113608G>TCA404085992LDLRc.1690G>T (p.Gly564Trp)
c.1432G>T (p.Gly478Trp)
c.1312G>T (p.Gly438Trp)
c.1686G>T
c.928G>T (p.Gly310Trp)
c.1309G>T (p.Gly437Trp)
c.1051G>T (p.Gly351Trp)
c.153G>T
c.912G>T
n.1582G>T
n.1549G>T
 ClinVar dbSNP
19g.11113610delCA10585449LDLRc.1692del (p.Leu565TrpfsTer28)
c.1434del (p.Leu479TrpfsTer28)
c.1314del (p.Leu439TrpfsTer28)
c.1688del
c.930del (p.Leu311TrpfsTer28)
c.1311del (p.Leu438TrpfsTer28)
c.1053del (p.Leu352TrpfsTer28)
c.155del
c.914del
n.1584del
n.1551del
 ClinVar dbSNP
19g.11113609G>ACA404085998LDLRc.1691G>A (p.Gly564Glu)
c.1433G>A (p.Gly478Glu)
c.1313G>A (p.Gly438Glu)
c.1687G>A
c.929G>A (p.Gly310Glu)
c.1310G>A (p.Gly437Glu)
c.1052G>A (p.Gly351Glu)
c.154G>A
c.913G>A
n.1583G>A
n.1550G>A
 ClinVar dbSNP COSMIC
19g.11113609G>CCA404085999LDLRc.1691G>C (p.Gly564Ala)
c.1433G>C (p.Gly478Ala)
c.1313G>C (p.Gly438Ala)
c.1687G>C
c.929G>C (p.Gly310Ala)
c.1310G>C (p.Gly437Ala)
c.1052G>C (p.Gly351Ala)
c.154G>C
c.913G>C
n.1583G>C
n.1550G>C
19g.11113609G=CA2322771935LDLRc.1691G= (p.Gly564=)
c.1433G= (p.Gly478=)
c.1313G= (p.Gly438=)
c.1687G=
c.929G= (p.Gly310=)
c.1310G= (p.Gly437=)
c.1052G= (p.Gly351=)
c.154G=
c.913G=
n.1583G=
n.1550G=
19g.11113609G>TCA404086003LDLRc.1691G>T (p.Gly564Val)
c.1433G>T (p.Gly478Val)
c.1313G>T (p.Gly438Val)
c.1687G>T
c.929G>T (p.Gly310Val)
c.1310G>T (p.Gly437Val)
c.1052G>T (p.Gly351Val)
c.154G>T
c.913G>T
n.1583G>T
n.1550G>T
 ClinVar
19g.11113610G>ACA10588895LDLRc.1692G>A (p.Gly564=)
c.1434G>A (p.Gly478=)
c.1314G>A (p.Gly438=)
c.1688G>A
c.930G>A (p.Gly310=)
c.1311G>A (p.Gly437=)
c.1053G>A (p.Gly351=)
c.155G>A
c.914G>A
n.1584G>A
n.1551G>A
 ClinVar dbSNP
19g.11113610G>CCA505743109LDLRc.1692G>C (p.Gly564=)
c.1434G>C (p.Gly478=)
c.1314G>C (p.Gly438=)
c.1688G>C
c.930G>C (p.Gly310=)
c.1311G>C (p.Gly437=)
c.1053G>C (p.Gly351=)
c.155G>C
c.914G>C
n.1584G>C
n.1551G>C
19g.11113610G=CA2322771937LDLRc.1692G= (p.Gly564=)
c.1434G= (p.Gly478=)
c.1314G= (p.Gly438=)
c.1688G=
c.930G= (p.Gly310=)
c.1311G= (p.Gly437=)
c.1053G= (p.Gly351=)
c.155G=
c.914G=
n.1584G=
n.1551G=
19g.11113610G>TCA505743110LDLRc.1692G>T (p.Gly564=)
c.1434G>T (p.Gly478=)
c.1314G>T (p.Gly438=)
c.1688G>T
c.930G>T (p.Gly310=)
c.1311G>T (p.Gly437=)
c.1053G>T (p.Gly351=)
c.155G>T
c.914G>T
n.1584G>T
n.1551G>T
19g.11113610_11113621delinsGCTGGCTGTGGACA2322771936LDLRc.1692_1703delinsGCTGGCTGTGGA (p.Gly564=)
c.1434_1445delinsGCTGGCTGTGGA (p.Gly478=)
c.1314_1325delinsGCTGGCTGTGGA (p.Gly438=)
c.1688_1699delinsGCTGGCTGTGGA
c.930_941delinsGCTGGCTGTGGA (p.Gly310=)
c.1311_1322delinsGCTGGCTGTGGA (p.Gly437=)
c.1053_1064delinsGCTGGCTGTGGA (p.Gly351=)
c.155_166delinsGCTGGCTGTGGA
c.914_925delinsGCTGGCTGTGGA
n.1584_1595delinsGCTGGCTGTGGA
n.1551_1562delinsGCTGGCTGTGGA
19g.11113610_11113624delinsTCCAGTACA2497030064LDLRc.1692_1706delinsTCCAGTA (p.Leu565ProfsTer?)
c.1434_1448delinsTCCAGTA (p.Leu479ProfsTer?)
c.1314_1328delinsTCCAGTA (p.Leu439ProfsTer?)
c.1688_1702delinsTCCAGTA
c.930_944delinsTCCAGTA (p.Leu311ProfsTer?)
c.1311_1325delinsTCCAGTA (p.Leu438ProfsTer?)
c.1053_1067delinsTCCAGTA (p.Leu352ProfsTer?)
c.155_169delinsTCCAGTA
c.914_928delinsTCCAGTA
n.1584_1598delinsTCCAGTA
n.1551_1565delinsTCCAGTA
19g.11113611C>ACA404086009LDLRc.1693C>A (p.Leu565Met)
c.1435C>A (p.Leu479Met)
c.1315C>A (p.Leu439Met)
c.1689C>A
c.931C>A (p.Leu311Met)
c.1312C>A (p.Leu438Met)
c.1054C>A (p.Leu352Met)
c.156C>A
c.915C>A
n.1585C>A
n.1552C>A
19g.11113611C=CA2322771938LDLRc.1693C= (p.Leu565=)
c.1435C= (p.Leu479=)
c.1315C= (p.Leu439=)
c.1689C=
c.931C= (p.Leu311=)
c.1312C= (p.Leu438=)
c.1054C= (p.Leu352=)
c.156C=
c.915C=
n.1585C=
n.1552C=
19g.11113611C>GCA404086017LDLRc.1693C>G (p.Leu565Val)
c.1435C>G (p.Leu479Val)
c.1315C>G (p.Leu439Val)
c.1689C>G
c.931C>G (p.Leu311Val)
c.1312C>G (p.Leu438Val)
c.1054C>G (p.Leu352Val)
c.156C>G
c.915C>G
n.1585C>G
n.1552C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11113611C>TCA505743111LDLRc.1693C>T (p.Leu565=)
c.1435C>T (p.Leu479=)
c.1315C>T (p.Leu439=)
c.1689C>T
c.931C>T (p.Leu311=)
c.1312C>T (p.Leu438=)
c.1054C>T (p.Leu352=)
c.156C>T
c.915C>T
n.1585C>T
n.1552C>T
 ClinVar gnomAD v4
19g.11113615_11113625delCA10585452LDLRc.1697_1707del (p.Ala566AspfsTer?)
c.1439_1449del (p.Ala480AspfsTer?)
c.1319_1329del (p.Ala440AspfsTer?)
c.1693_1703del
c.935_945del (p.Ala312AspfsTer?)
c.1316_1326del (p.Ala439AspfsTer?)
c.1058_1068del (p.Ala353AspfsTer?)
c.160_170del
n.1589_1599del
n.1556_1566del
 ClinVar dbSNP
19g.11113612T>ACA404086021LDLRc.1694T>A (p.Leu565Gln)
c.1436T>A (p.Leu479Gln)
c.1316T>A (p.Leu439Gln)
c.1690T>A
c.932T>A (p.Leu311Gln)
c.1313T>A (p.Leu438Gln)
c.1055T>A (p.Leu352Gln)
c.157T>A
c.916T>A
n.1586T>A
n.1553T>A
 ClinVar dbSNP
19g.11113612T>CCA10585450LDLRc.1694T>C (p.Leu565Pro)
c.1436T>C (p.Leu479Pro)
c.1316T>C (p.Leu439Pro)
c.1690T>C
c.932T>C (p.Leu311Pro)
c.1313T>C (p.Leu438Pro)
c.1055T>C (p.Leu352Pro)
c.157T>C
c.916T>C
n.1586T>C
n.1553T>C
 ClinVar dbSNP gnomAD v4
19g.11113612T>GCA404086026LDLRc.1694T>G (p.Leu565Arg)
c.1436T>G (p.Leu479Arg)
c.1316T>G (p.Leu439Arg)
c.1690T>G
c.932T>G (p.Leu311Arg)
c.1313T>G (p.Leu438Arg)
c.1055T>G (p.Leu352Arg)
c.157T>G
c.916T>G
n.1586T>G
n.1553T>G
19g.11113612T=CA2322771939LDLRc.1694T= (p.Leu565=)
c.1436T= (p.Leu479=)
c.1316T= (p.Leu439=)
c.1690T=
c.932T= (p.Leu311=)
c.1313T= (p.Leu438=)
c.1055T= (p.Leu352=)
c.157T=
c.916T=
n.1586T=
n.1553T=
19g.11113613G>ACA505743116LDLRc.1695G>A (p.Leu565=)
c.1437G>A (p.Leu479=)
c.1317G>A (p.Leu439=)
c.1691G>A
c.933G>A (p.Leu311=)
c.1314G>A (p.Leu438=)
c.1056G>A (p.Leu352=)
c.158G>A
c.917G>A
n.1587G>A
n.1554G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11113613G>CCA505743118LDLRc.1695G>C (p.Leu565=)
c.1437G>C (p.Leu479=)
c.1317G>C (p.Leu439=)
c.1691G>C
c.933G>C (p.Leu311=)
c.1314G>C (p.Leu438=)
c.1056G>C (p.Leu352=)
c.158G>C
c.917G>C
n.1587G>C
n.1554G>C
19g.11113613G=CA2322771940LDLRc.1695G= (p.Leu565=)
c.1437G= (p.Leu479=)
c.1317G= (p.Leu439=)
c.1691G=
c.933G= (p.Leu311=)
c.1314G= (p.Leu438=)
c.1056G= (p.Leu352=)
c.158G=
c.917G=
n.1587G=
n.1554G=
19g.11113613G>TCA505743117LDLRc.1695G>T (p.Leu565=)
c.1437G>T (p.Leu479=)
c.1317G>T (p.Leu439=)
c.1691G>T
c.933G>T (p.Leu311=)
c.1314G>T (p.Leu438=)
c.1056G>T (p.Leu352=)
c.158G>T
c.917G>T
n.1587G>T
n.1554G>T
19g.11113614G>ACA404086031LDLRc.1696G>A (p.Ala566Thr)
c.1438G>A (p.Ala480Thr)
c.1318G>A (p.Ala440Thr)
c.1692G>A
c.934G>A (p.Ala312Thr)
c.1315G>A (p.Ala439Thr)
c.1057G>A (p.Ala353Thr)
c.159G>A
c.918G>A
n.1588G>A
n.1555G>A
 ClinVar dbSNP gnomAD v4
19g.11113614G>CCA10585451LDLRc.1696G>C (p.Ala566Pro)
c.1438G>C (p.Ala480Pro)
c.1318G>C (p.Ala440Pro)
c.1692G>C
c.934G>C (p.Ala312Pro)
c.1315G>C (p.Ala439Pro)
c.1057G>C (p.Ala353Pro)
c.159G>C
c.918G>C
n.1588G>C
n.1555G>C
 ClinVar dbSNP
19g.11113614G=CA2322771941LDLRc.1696G= (p.Ala566=)
c.1438G= (p.Ala480=)
c.1318G= (p.Ala440=)
c.1692G=
c.934G= (p.Ala312=)
c.1315G= (p.Ala439=)
c.1057G= (p.Ala353=)
c.159G=
c.918G=
n.1588G=
n.1555G=
19g.11113614G>TCA404086034LDLRc.1696G>T (p.Ala566Ser)
c.1438G>T (p.Ala480Ser)
c.1318G>T (p.Ala440Ser)
c.1692G>T
c.934G>T (p.Ala312Ser)
c.1315G>T (p.Ala439Ser)
c.1057G>T (p.Ala353Ser)
c.159G>T
c.918G>T
n.1588G>T
n.1555G>T
 ClinVar gnomAD v4
19g.11113615C>ACA404086038LDLRc.1697C>A (p.Ala566Asp)
c.1439C>A (p.Ala480Asp)
c.1319C>A (p.Ala440Asp)
c.1693C>A
c.935C>A (p.Ala312Asp)
c.1316C>A (p.Ala439Asp)
c.1058C>A (p.Ala353Asp)
c.160C>A
c.919C>A
n.1589C>A
n.1556C>A
19g.11113615C=CA2322771942LDLRc.1697C= (p.Ala566=)
c.1439C= (p.Ala480=)
c.1319C= (p.Ala440=)
c.1693C=
c.935C= (p.Ala312=)
c.1316C= (p.Ala439=)
c.1058C= (p.Ala353=)
c.160C=
c.919C=
n.1589C=
n.1556C=
19g.11113615C>GCA404086042LDLRc.1697C>G (p.Ala566Gly)
c.1439C>G (p.Ala480Gly)
c.1319C>G (p.Ala440Gly)
c.1693C>G
c.935C>G (p.Ala312Gly)
c.1316C>G (p.Ala439Gly)
c.1058C>G (p.Ala353Gly)
c.160C>G
c.919C>G
n.1589C>G
n.1556C>G
19g.11113615C>TCA16620738LDLRc.1697C>T (p.Ala566Val)
c.1439C>T (p.Ala480Val)
c.1319C>T (p.Ala440Val)
c.1693C>T
c.935C>T (p.Ala312Val)
c.1316C>T (p.Ala439Val)
c.1058C>T (p.Ala353Val)
c.160C>T
c.919C>T
n.1589C>T
n.1556C>T
 ClinVar dbSNP
19g.11113616T>ACA505743121LDLRc.1698T>A (p.Ala566=)
c.1440T>A (p.Ala480=)
c.1320T>A (p.Ala440=)
c.1694T>A
c.936T>A (p.Ala312=)
c.1317T>A (p.Ala439=)
c.1059T>A (p.Ala353=)
c.161T>A
c.920T>A
n.1590T>A
n.1557T>A
 gnomAD v4
19g.11113616T>CCA505743122LDLRc.1698T>C (p.Ala566=)
c.1440T>C (p.Ala480=)
c.1320T>C (p.Ala440=)
c.1694T>C
c.936T>C (p.Ala312=)
c.1317T>C (p.Ala439=)
c.1059T>C (p.Ala353=)
c.161T>C
c.920T>C
n.1590T>C
n.1557T>C
19g.11113616T>GCA505743123LDLRc.1698T>G (p.Ala566=)
c.1440T>G (p.Ala480=)
c.1320T>G (p.Ala440=)
c.1694T>G
c.936T>G (p.Ala312=)
c.1317T>G (p.Ala439=)
c.1059T>G (p.Ala353=)
c.161T>G
c.920T>G
n.1590T>G
n.1557T>G
 ClinVar dbSNP gnomAD v4
19g.11113617G>ACA10585453LDLRc.1699G>A (p.Val567Met)
c.1441G>A (p.Val481Met)
c.1321G>A (p.Val441Met)
c.1695G>A
c.937G>A (p.Val313Met)
c.1318G>A (p.Val440Met)
c.1060G>A (p.Val354Met)
c.162G>A
c.921G>A
n.1591G>A
n.1558G>A
 ClinVar dbSNP gnomAD v4
19g.11113617G>CCA404086049LDLRc.1699G>C (p.Val567Leu)
c.1441G>C (p.Val481Leu)
c.1321G>C (p.Val441Leu)
c.1695G>C
c.937G>C (p.Val313Leu)
c.1318G>C (p.Val440Leu)
c.1060G>C (p.Val354Leu)
c.162G>C
c.921G>C
n.1591G>C
n.1558G>C
19g.11113617G=CA2322771943LDLRc.1699G= (p.Val567=)
c.1441G= (p.Val481=)
c.1321G= (p.Val441=)
c.1695G=
c.937G= (p.Val313=)
c.1318G= (p.Val440=)
c.1060G= (p.Val354=)
c.162G=
c.921G=
n.1591G=
n.1558G=
19g.11113617G>TCA404086051LDLRc.1699G>T (p.Val567Leu)
c.1441G>T (p.Val481Leu)
c.1321G>T (p.Val441Leu)
c.1695G>T
c.937G>T (p.Val313Leu)
c.1318G>T (p.Val440Leu)
c.1060G>T (p.Val354Leu)
c.162G>T
c.921G>T
n.1591G>T
n.1558G>T
19g.11113618T>ACA404086057LDLRc.1700T>A (p.Val567Glu)
c.1442T>A (p.Val481Glu)
c.1322T>A (p.Val441Glu)
c.1696T>A
c.938T>A (p.Val313Glu)
c.1319T>A (p.Val440Glu)
c.1061T>A (p.Val354Glu)
c.163T>A
c.922T>A
n.1592T>A
n.1559T>A
19g.11113618T>CCA404086059LDLRc.1700T>C (p.Val567Ala)
c.1442T>C (p.Val481Ala)
c.1322T>C (p.Val441Ala)
c.1696T>C
c.938T>C (p.Val313Ala)
c.1319T>C (p.Val440Ala)
c.1061T>C (p.Val354Ala)
c.163T>C
c.922T>C
n.1592T>C
n.1559T>C
19g.11113618T>GCA404086053LDLRc.1700T>G (p.Val567Gly)
c.1442T>G (p.Val481Gly)
c.1322T>G (p.Val441Gly)
c.1696T>G
c.938T>G (p.Val313Gly)
c.1319T>G (p.Val440Gly)
c.1061T>G (p.Val354Gly)
c.163T>G
c.922T>G
n.1592T>G
n.1559T>G
 dbSNP
19g.11113618T=CA2322771944LDLRc.1700T= (p.Val567=)
c.1442T= (p.Val481=)
c.1322T= (p.Val441=)
c.1696T=
c.938T= (p.Val313=)
c.1319T= (p.Val440=)
c.1061T= (p.Val354=)
c.163T=
c.922T=
n.1592T=
n.1559T=
19g.11113619G>ACA505743124LDLRc.1701G>A (p.Val567=)
c.1443G>A (p.Val481=)
c.1323G>A (p.Val441=)
c.1697G>A
c.939G>A (p.Val313=)
c.1320G>A (p.Val440=)
c.1062G>A (p.Val354=)
c.164G>A
c.923G>A
n.1593G>A
n.1560G>A
19g.11113619G>CCA505743125LDLRc.1701G>C (p.Val567=)
c.1443G>C (p.Val481=)
c.1323G>C (p.Val441=)
c.1697G>C
c.939G>C (p.Val313=)
c.1320G>C (p.Val440=)
c.1062G>C (p.Val354=)
c.164G>C
c.923G>C
n.1593G>C
n.1560G>C
19g.11113619G>TCA505743127LDLRc.1701G>T (p.Val567=)
c.1443G>T (p.Val481=)
c.1323G>T (p.Val441=)
c.1697G>T
c.939G>T (p.Val313=)
c.1320G>T (p.Val440=)
c.1062G>T (p.Val354=)
c.164G>T
c.923G>T
n.1593G>T
n.1560G>T
 gnomAD v4
19g.11113620G>ACA023502LDLRc.1702G>A (p.Asp568Asn)
c.1444G>A (p.Asp482Asn)
c.1324G>A (p.Asp442Asn)
c.1698G>A
c.940G>A (p.Asp314Asn)
c.1321G>A (p.Asp441Asn)
c.1063G>A (p.Asp355Asn)
c.165G>A
c.924G>A
n.1594G>A
n.1561G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113620G>CCA10585454LDLRc.1702G>C (p.Asp568His)
c.1444G>C (p.Asp482His)
c.1324G>C (p.Asp442His)
c.1698G>C
c.940G>C (p.Asp314His)
c.1321G>C (p.Asp441His)
c.1063G>C (p.Asp355His)
c.165G>C
c.924G>C
n.1594G>C
n.1561G>C
 ClinVar dbSNP gnomAD v4
19g.11113620G=CA2322771945LDLRc.1702G= (p.Asp568=)
c.1444G= (p.Asp482=)
c.1324G= (p.Asp442=)
c.1698G=
c.940G= (p.Asp314=)
c.1321G= (p.Asp441=)
c.1063G= (p.Asp355=)
c.165G=
c.924G=
n.1594G=
n.1561G=
19g.11113620G>TCA10585455LDLRc.1702G>T (p.Asp568Tyr)
c.1444G>T (p.Asp482Tyr)
c.1324G>T (p.Asp442Tyr)
c.1698G>T
c.940G>T (p.Asp314Tyr)
c.1321G>T (p.Asp441Tyr)
c.1063G>T (p.Asp355Tyr)
c.165G>T
c.924G>T
n.1594G>T
n.1561G>T
 ClinVar dbSNP
19g.11113621A=CA2322771946LDLRc.1703A= (p.Asp568=)
c.1445A= (p.Asp482=)
c.1325A= (p.Asp442=)
c.1699A=
c.941A= (p.Asp314=)
c.1322A= (p.Asp441=)
c.1064A= (p.Asp355=)
c.166A=
c.925A=
n.1595A=
n.1562A=
19g.11113621A>CCA404086073LDLRc.1703A>C (p.Asp568Ala)
c.1445A>C (p.Asp482Ala)
c.1325A>C (p.Asp442Ala)
c.1699A>C
c.941A>C (p.Asp314Ala)
c.1322A>C (p.Asp441Ala)
c.1064A>C (p.Asp355Ala)
c.166A>C
c.925A>C
n.1595A>C
n.1562A>C
19g.11113621A>GCA10585456LDLRc.1703A>G (p.Asp568Gly)
c.1445A>G (p.Asp482Gly)
c.1325A>G (p.Asp442Gly)
c.1699A>G
c.941A>G (p.Asp314Gly)
c.1322A>G (p.Asp441Gly)
c.1064A>G (p.Asp355Gly)
c.166A>G
c.925A>G
n.1595A>G
n.1562A>G
 ClinVar dbSNP
19g.11113621A>TCA404086076LDLRc.1703A>T (p.Asp568Val)
c.1445A>T (p.Asp482Val)
c.1325A>T (p.Asp442Val)
c.1699A>T
c.941A>T (p.Asp314Val)
c.1322A>T (p.Asp441Val)
c.1064A>T (p.Asp355Val)
c.166A>T
c.925A>T
n.1595A>T
n.1562A>T
19g.11113621_11113622insTCCA2582474640LDLRc.1703_1704insTC (p.Trp569ProfsTer25)
c.1445_1446insTC (p.Trp483ProfsTer25)
c.1325_1326insTC (p.Trp443ProfsTer25)
c.1699_1700insTC
c.941_942insTC (p.Trp315ProfsTer25)
c.1322_1323insTC (p.Trp442ProfsTer25)
c.1064_1065insTC (p.Trp356ProfsTer25)
c.166_167insTC
c.925_926insTC
n.1595_1596insTC
n.1562_1563insTC
 gnomAD v4
19g.11113622C>ACA404086079LDLRc.1704C>A (p.Asp568Glu)
c.1446C>A (p.Asp482Glu)
c.1326C>A (p.Asp442Glu)
c.1700C>A
c.942C>A (p.Asp314Glu)
c.1323C>A (p.Asp441Glu)
c.1065C>A (p.Asp355Glu)
c.167C>A
c.926C>A
n.1596C>A
n.1563C>A
19g.11113622C>GCA404086082LDLRc.1704C>G (p.Asp568Glu)
c.1446C>G (p.Asp482Glu)
c.1326C>G (p.Asp442Glu)
c.1700C>G
c.942C>G (p.Asp314Glu)
c.1323C>G (p.Asp441Glu)
c.1065C>G (p.Asp355Glu)
c.167C>G
c.926C>G
n.1596C>G
n.1563C>G
19g.11113622C>TCA505743131LDLRc.1704C>T (p.Asp568=)
c.1446C>T (p.Asp482=)
c.1326C>T (p.Asp442=)
c.1700C>T
c.942C>T (p.Asp314=)
c.1323C>T (p.Asp441=)
c.1065C>T (p.Asp355=)
c.167C>T
c.926C>T
n.1596C>T
n.1563C>T
19g.11113622_11113623delinsCTCA2322771947LDLRc.1704_1705delinsCT (p.Asp568=)
c.1446_1447delinsCT (p.Asp482=)
c.1326_1327delinsCT (p.Asp442=)
c.1700_1701delinsCT
c.942_943delinsCT (p.Asp314=)
c.1323_1324delinsCT (p.Asp441=)
c.1065_1066delinsCT (p.Asp355=)
c.167_168delinsCT
c.926_927delinsCT
n.1596_1597delinsCT
n.1563_1564delinsCT
19g.11113623delCA916081221LDLRc.1705del (p.Trp569GlyfsTer24)
c.1447del (p.Trp483GlyfsTer24)
c.1327del (p.Trp443GlyfsTer24)
c.1701del
c.943del (p.Trp315GlyfsTer24)
c.1324del (p.Trp442GlyfsTer24)
c.1066del (p.Trp356GlyfsTer24)
c.168del
c.927del
n.1597del
n.1564del
 ClinVar dbSNP
19g.11113623T>ACA404086085LDLRc.1705T>A (p.Trp569Arg)
c.1447T>A (p.Trp483Arg)
c.1327T>A (p.Trp443Arg)
c.1701T>A
c.943T>A (p.Trp315Arg)
c.1324T>A (p.Trp442Arg)
c.1066T>A (p.Trp356Arg)
c.168T>A
c.927T>A
n.1597T>A
n.1564T>A
 gnomAD v4
19g.11113623T>CCA10585457LDLRc.1705T>C (p.Trp569Arg)
c.1447T>C (p.Trp483Arg)
c.1327T>C (p.Trp443Arg)
c.1701T>C
c.943T>C (p.Trp315Arg)
c.1324T>C (p.Trp442Arg)
c.1066T>C (p.Trp356Arg)
c.168T>C
c.927T>C
n.1597T>C
n.1564T>C
 ClinVar dbSNP gnomAD v4
19g.11113623T>GCA404086089LDLRc.1705T>G (p.Trp569Gly)
c.1447T>G (p.Trp483Gly)
c.1327T>G (p.Trp443Gly)
c.1701T>G
c.943T>G (p.Trp315Gly)
c.1324T>G (p.Trp442Gly)
c.1066T>G (p.Trp356Gly)
c.168T>G
c.927T>G
n.1597T>G
n.1564T>G
19g.11113623T=CA2322771948LDLRc.1705T= (p.Trp569=)
c.1447T= (p.Trp483=)
c.1327T= (p.Trp443=)
c.1701T=
c.943T= (p.Trp315=)
c.1324T= (p.Trp442=)
c.1066T= (p.Trp356=)
c.168T=
c.927T=
n.1597T=
n.1564T=
19g.11113624_11113627dupCA2695228180LDLRc.1706_1709dup (p.Ile570MetfsTer?)
c.1448_1451dup (p.Ile484MetfsTer?)
c.1328_1331dup (p.Ile444MetfsTer?)
c.1702_1705dup
c.944_947dup (p.Ile316MetfsTer?)
c.1325_1328dup (p.Ile443MetfsTer?)
c.1067_1070dup (p.Ile357MetfsTer?)
c.169_172dup
n.1598_1601dup
n.1565_1568dup
19g.11113624G>ACA10576306LDLRc.1706G>A (p.Trp569Ter)
c.1448G>A (p.Trp483Ter)
c.1328G>A (p.Trp443Ter)
c.1702G>A
c.944G>A (p.Trp315Ter)
c.1325G>A (p.Trp442Ter)
c.1067G>A (p.Trp356Ter)
c.169G>A
c.928G>A
n.1598G>A
n.1565G>A
 ClinVar dbSNP gnomAD v4
19g.11113624G>CCA404086094LDLRc.1706G>C (p.Trp569Ser)
c.1448G>C (p.Trp483Ser)
c.1328G>C (p.Trp443Ser)
c.1702G>C
c.944G>C (p.Trp315Ser)
c.1325G>C (p.Trp442Ser)
c.1067G>C (p.Trp356Ser)
c.169G>C
c.928G>C
n.1598G>C
n.1565G>C
19g.11113624G=CA2322771949LDLRc.1706G= (p.Trp569=)
c.1448G= (p.Trp483=)
c.1328G= (p.Trp443=)
c.1702G=
c.944G= (p.Trp315=)
c.1325G= (p.Trp442=)
c.1067G= (p.Trp356=)
c.169G=
c.928G=
n.1598G=
n.1565G=
19g.11113624G>TCA404086098LDLRc.1706G>T (p.Trp569Leu)
c.1448G>T (p.Trp483Leu)
c.1328G>T (p.Trp443Leu)
c.1702G>T
c.944G>T (p.Trp315Leu)
c.1325G>T (p.Trp442Leu)
c.1067G>T (p.Trp356Leu)
c.169G>T
c.928G>T
n.1598G>T
n.1565G>T
 ClinVar dbSNP
19g.11113624_11113625delCA2695228181LDLRc.1706_1707del (p.Trp569TyrfsTer?)
c.1448_1449del (p.Trp483TyrfsTer?)
c.1328_1329del (p.Trp443TyrfsTer?)
c.1702_1703del
c.944_945del (p.Trp315TyrfsTer?)
c.1325_1326del (p.Trp442TyrfsTer?)
c.1067_1068del (p.Trp356TyrfsTer?)
c.169_170del
n.1598_1599del
n.1565_1566del
19g.11113625G>ACA10585458LDLRc.1707G>A (p.Trp569Ter)
c.1449G>A (p.Trp483Ter)
c.1329G>A (p.Trp443Ter)
c.1703G>A
c.945G>A (p.Trp315Ter)
c.1326G>A (p.Trp442Ter)
c.1068G>A (p.Trp356Ter)
c.170G>A
n.1599G>A
n.1566G>A
 ClinVar dbSNP
19g.11113625G>CCA404086103LDLRc.1707G>C (p.Trp569Cys)
c.1449G>C (p.Trp483Cys)
c.1329G>C (p.Trp443Cys)
c.1703G>C
c.945G>C (p.Trp315Cys)
c.1326G>C (p.Trp442Cys)
c.1068G>C (p.Trp356Cys)
c.170G>C
n.1599G>C
n.1566G>C
 ClinVar dbSNP
19g.11113625G=CA2322771950LDLRc.1707G= (p.Trp569=)
c.1449G= (p.Trp483=)
c.1329G= (p.Trp443=)
c.1703G=
c.945G= (p.Trp315=)
c.1326G= (p.Trp442=)
c.1068G= (p.Trp356=)
c.170G=
n.1599G=
n.1566G=
19g.11113625G>TCA10585459LDLRc.1707G>T (p.Trp569Cys)
c.1449G>T (p.Trp483Cys)
c.1329G>T (p.Trp443Cys)
c.1703G>T
c.945G>T (p.Trp315Cys)
c.1326G>T (p.Trp442Cys)
c.1068G>T (p.Trp356Cys)
c.170G>T
n.1599G>T
n.1566G>T
 ClinVar dbSNP gnomAD v4 COSMIC
19g.11113625_11113626delCA2582474641LDLRc.1707_1708del (p.Trp569CysfsTer?)
c.1449_1450del (p.Trp483CysfsTer?)
c.1329_1330del (p.Trp443CysfsTer?)
c.1703_1704del
c.945_946del (p.Trp315CysfsTer?)
c.1326_1327del (p.Trp442CysfsTer?)
c.1068_1069del (p.Trp356CysfsTer?)
c.170_171del
n.1599_1600del
n.1566_1567del
 gnomAD v4
19g.11113626A>CCA404086109LDLRc.1708A>C (p.Ile570Leu)
c.1450A>C (p.Ile484Leu)
c.1330A>C (p.Ile444Leu)
c.1704A>C
c.946A>C (p.Ile316Leu)
c.1327A>C (p.Ile443Leu)
c.1069A>C (p.Ile357Leu)
c.171A>C
n.1600A>C
n.1567A>C
19g.11113626A>GCA404086111LDLRc.1708A>G (p.Ile570Val)
c.1450A>G (p.Ile484Val)
c.1330A>G (p.Ile444Val)
c.1704A>G
c.946A>G (p.Ile316Val)
c.1327A>G (p.Ile443Val)
c.1069A>G (p.Ile357Val)
c.171A>G
n.1600A>G
n.1567A>G
 ClinVar dbSNP
19g.11113626A>TCA404086115LDLRc.1708A>T (p.Ile570Phe)
c.1450A>T (p.Ile484Phe)
c.1330A>T (p.Ile444Phe)
c.1704A>T
c.946A>T (p.Ile316Phe)
c.1327A>T (p.Ile443Phe)
c.1069A>T (p.Ile357Phe)
c.171A>T
n.1600A>T
n.1567A>T
19g.11113627T>ACA404086119LDLRc.1709T>A (p.Ile570Asn)
c.1451T>A (p.Ile484Asn)
c.1331T>A (p.Ile444Asn)
c.1705T>A
c.947T>A (p.Ile316Asn)
c.1328T>A (p.Ile443Asn)
c.1070T>A (p.Ile357Asn)
c.172T>A
n.1601T>A
n.1568T>A
19g.11113627T>CCA404086121LDLRc.1709T>C (p.Ile570Thr)
c.1451T>C (p.Ile484Thr)
c.1331T>C (p.Ile444Thr)
c.1705T>C
c.947T>C (p.Ile316Thr)
c.1328T>C (p.Ile443Thr)
c.1070T>C (p.Ile357Thr)
c.172T>C
n.1601T>C
n.1568T>C
19g.11113627T>GCA404086122LDLRc.1709T>G (p.Ile570Ser)
c.1451T>G (p.Ile484Ser)
c.1331T>G (p.Ile444Ser)
c.1705T>G
c.947T>G (p.Ile316Ser)
c.1328T>G (p.Ile443Ser)
c.1070T>G (p.Ile357Ser)
c.172T>G
n.1601T>G
n.1568T>G
19g.11113628C>ACA505743138LDLRc.1710C>A (p.Ile570=)
c.1452C>A (p.Ile484=)
c.1332C>A (p.Ile444=)
c.1706C>A
c.948C>A (p.Ile316=)
c.1329C>A (p.Ile443=)
c.1071C>A (p.Ile357=)
c.173C>A
n.1602C>A
n.1569C>A
 gnomAD v4
19g.11113628C>GCA404086127LDLRc.1710C>G (p.Ile570Met)
c.1452C>G (p.Ile484Met)
c.1332C>G (p.Ile444Met)
c.1706C>G
c.948C>G (p.Ile316Met)
c.1329C>G (p.Ile443Met)
c.1071C>G (p.Ile357Met)
c.173C>G
n.1602C>G
n.1569C>G
19g.11113628C>TCA505743137LDLRc.1710C>T (p.Ile570=)
c.1452C>T (p.Ile484=)
c.1332C>T (p.Ile444=)
c.1706C>T
c.948C>T (p.Ile316=)
c.1329C>T (p.Ile443=)
c.1071C>T (p.Ile357=)
c.173C>T
n.1602C>T
n.1569C>T
19g.11113629C>ACA404086131LDLRc.1711C>A (p.His571Asn)
c.1453C>A (p.His485Asn)
c.1333C>A (p.His445Asn)
c.1707C>A
c.949C>A (p.His317Asn)
c.1330C>A (p.His444Asn)
c.1072C>A (p.His358Asn)
c.174C>A
n.1603C>A
n.1570C>A
19g.11113629C>GCA404086133LDLRc.1711C>G (p.His571Asp)
c.1453C>G (p.His485Asp)
c.1333C>G (p.His445Asp)
c.1707C>G
c.949C>G (p.His317Asp)
c.1330C>G (p.His444Asp)
c.1072C>G (p.His358Asp)
c.174C>G
n.1603C>G
n.1570C>G
19g.11113629C>TCA404086137LDLRc.1711C>T (p.His571Tyr)
c.1453C>T (p.His485Tyr)
c.1333C>T (p.His445Tyr)
c.1707C>T
c.949C>T (p.His317Tyr)
c.1330C>T (p.His444Tyr)
c.1072C>T (p.His358Tyr)
c.174C>T
n.1603C>T
n.1570C>T
 gnomAD v4
19g.11113630A=CA2322771951LDLRc.1712A= (p.His571=)
c.1454A= (p.His485=)
c.1334A= (p.His445=)
c.1708A=
c.950A= (p.His317=)
c.1331A= (p.His444=)
c.1073A= (p.His358=)
c.175A=
n.1604A=
n.1571A=
19g.11113630A>CCA404086141LDLRc.1712A>C (p.His571Pro)
c.1454A>C (p.His485Pro)
c.1334A>C (p.His445Pro)
c.1708A>C
c.950A>C (p.His317Pro)
c.1331A>C (p.His444Pro)
c.1073A>C (p.His358Pro)
c.175A>C
n.1604A>C
n.1571A>C
19g.11113630A>GCA10585460LDLRc.1712A>G (p.His571Arg)
c.1454A>G (p.His485Arg)
c.1334A>G (p.His445Arg)
c.1708A>G
c.950A>G (p.His317Arg)
c.1331A>G (p.His444Arg)
c.1073A>G (p.His358Arg)
c.175A>G
n.1604A>G
n.1571A>G
 ClinVar dbSNP gnomAD v4
19g.11113630A>TCA404086145LDLRc.1712A>T (p.His571Leu)
c.1454A>T (p.His485Leu)
c.1334A>T (p.His445Leu)
c.1708A>T
c.950A>T (p.His317Leu)
c.1331A>T (p.His444Leu)
c.1073A>T (p.His358Leu)
c.175A>T
n.1604A>T
n.1571A>T
19g.11113631C>ACA404086146LDLRc.1713C>A (p.His571Gln)
c.1455C>A (p.His485Gln)
c.1335C>A (p.His445Gln)
c.1709C>A
c.951C>A (p.His317Gln)
c.1332C>A (p.His444Gln)
c.1074C>A (p.His358Gln)
c.176C>A
n.1605C>A
n.1572C>A
19g.11113631C=CA2322771952LDLRc.1713C= (p.His571=)
c.1455C= (p.His485=)
c.1335C= (p.His445=)
c.1709C=
c.951C= (p.His317=)
c.1332C= (p.His444=)
c.1074C= (p.His358=)
c.176C=
n.1605C=
n.1572C=
19g.11113631C>GCA10585461LDLRc.1713C>G (p.His571Gln)
c.1455C>G (p.His485Gln)
c.1335C>G (p.His445Gln)
c.1709C>G
c.951C>G (p.His317Gln)
c.1332C>G (p.His444Gln)
c.1074C>G (p.His358Gln)
c.176C>G
n.1605C>G
n.1572C>G
 ClinVar dbSNP
19g.11113631C>TCA505743140LDLRc.1713C>T (p.His571=)
c.1455C>T (p.His485=)
c.1335C>T (p.His445=)
c.1709C>T
c.951C>T (p.His317=)
c.1332C>T (p.His444=)
c.1074C>T (p.His358=)
c.176C>T
n.1605C>T
n.1572C>T
 ClinVar dbSNP
19g.11113631_11113632delinsCACA2322771953LDLRc.1713_1714delinsCA (p.His571=)
c.1455_1456delinsCA (p.His485=)
c.1335_1336delinsCA (p.His445=)
c.1709_1710delinsCA
c.951_952delinsCA (p.His317=)
c.1332_1333delinsCA (p.His444=)
c.1074_1075delinsCA (p.His358=)
c.176_177delinsCA
n.1605_1606delinsCA
n.1572_1573delinsCA
19g.11113632delCA645373231LDLRc.1714del (p.Ser572AlafsTer21)
c.1456del (p.Ser486AlafsTer21)
c.1336del (p.Ser446AlafsTer21)
c.1710del
c.952del (p.Ser318AlafsTer21)
c.1333del (p.Ser445AlafsTer21)
c.1075del (p.Ser359AlafsTer21)
c.177del
n.1606del
n.1573del
 ClinVar dbSNP
19g.11113632A=CA2322771954LDLRc.1714A= (p.Ser572=)
c.1456A= (p.Ser486=)
c.1336A= (p.Ser446=)
c.1710A=
c.952A= (p.Ser318=)
c.1333A= (p.Ser445=)
c.1075A= (p.Ser359=)
c.177A=
n.1606A=
n.1573A=
19g.11113632A>CCA404086148LDLRc.1714A>C (p.Ser572Arg)
c.1456A>C (p.Ser486Arg)
c.1336A>C (p.Ser446Arg)
c.1710A>C
c.952A>C (p.Ser318Arg)
c.1333A>C (p.Ser445Arg)
c.1075A>C (p.Ser359Arg)
c.177A>C
n.1606A>C
n.1573A>C
19g.11113632A>GCA10585462LDLRc.1714A>G (p.Ser572Gly)
c.1456A>G (p.Ser486Gly)
c.1336A>G (p.Ser446Gly)
c.1710A>G
c.952A>G (p.Ser318Gly)
c.1333A>G (p.Ser445Gly)
c.1075A>G (p.Ser359Gly)
c.177A>G
n.1606A>G
n.1573A>G
 ClinVar dbSNP
19g.11113632A>TCA404086150LDLRc.1714A>T (p.Ser572Cys)
c.1456A>T (p.Ser486Cys)
c.1336A>T (p.Ser446Cys)
c.1710A>T
c.952A>T (p.Ser318Cys)
c.1333A>T (p.Ser445Cys)
c.1075A>T (p.Ser359Cys)
c.177A>T
n.1606A>T
n.1573A>T
19g.11113633G>ACA10585463LDLRc.1715G>A (p.Ser572Asn)
c.1457G>A (p.Ser486Asn)
c.1337G>A (p.Ser446Asn)
c.1711G>A
c.953G>A (p.Ser318Asn)
c.1334G>A (p.Ser445Asn)
c.1076G>A (p.Ser359Asn)
c.178G>A
n.1607G>A
n.1574G>A
 ClinVar dbSNP
19g.11113633G>CCA404086155LDLRc.1715G>C (p.Ser572Thr)
c.1457G>C (p.Ser486Thr)
c.1337G>C (p.Ser446Thr)
c.1711G>C
c.953G>C (p.Ser318Thr)
c.1334G>C (p.Ser445Thr)
c.1076G>C (p.Ser359Thr)
c.178G>C
n.1607G>C
n.1574G>C
19g.11113633G=CA2322771955LDLRc.1715G= (p.Ser572=)
c.1457G= (p.Ser486=)
c.1337G= (p.Ser446=)
c.1711G=
c.953G= (p.Ser318=)
c.1334G= (p.Ser445=)
c.1076G= (p.Ser359=)
c.178G=
n.1607G=
n.1574G=
19g.11113633G>TCA404086157LDLRc.1715G>T (p.Ser572Ile)
c.1457G>T (p.Ser486Ile)
c.1337G>T (p.Ser446Ile)
c.1711G>T
c.953G>T (p.Ser318Ile)
c.1334G>T (p.Ser445Ile)
c.1076G>T (p.Ser359Ile)
c.178G>T
n.1607G>T
n.1574G>T
19g.11113633_11113636delinsGCAACA2322771956LDLRc.1715_1718delinsGCAA (p.Ser572=)
c.1457_1460delinsGCAA (p.Ser486=)
c.1337_1340delinsGCAA (p.Ser446=)
c.1711_1714delinsGCAA
c.953_956delinsGCAA (p.Ser318=)
c.1334_1337delinsGCAA (p.Ser445=)
c.1076_1079delinsGCAA (p.Ser359=)
c.178_181delinsGCAA
n.1607_1610delinsGCAA
n.1574_1577delinsGCAA
19g.11113634C>ACA404086162LDLRc.1716C>A (p.Ser572Arg)
c.1458C>A (p.Ser486Arg)
c.1338C>A (p.Ser446Arg)
c.1712C>A
c.954C>A (p.Ser318Arg)
c.1335C>A (p.Ser445Arg)
c.1077C>A (p.Ser359Arg)
c.179C>A
n.1608C>A
n.1575C>A
19g.11113634C>GCA404086164LDLRc.1716C>G (p.Ser572Arg)
c.1458C>G (p.Ser486Arg)
c.1338C>G (p.Ser446Arg)
c.1712C>G
c.954C>G (p.Ser318Arg)
c.1335C>G (p.Ser445Arg)
c.1077C>G (p.Ser359Arg)
c.179C>G
n.1608C>G
n.1575C>G
19g.11113634C>TCA505743142LDLRc.1716C>T (p.Ser572=)
c.1458C>T (p.Ser486=)
c.1338C>T (p.Ser446=)
c.1712C>T
c.954C>T (p.Ser318=)
c.1335C>T (p.Ser445=)
c.1077C>T (p.Ser359=)
c.179C>T
n.1608C>T
n.1575C>T
19g.11113636_11113638delCA10585465LDLRc.1718_1720del (p.Asn573del)
c.1460_1462del (p.Asn487del)
c.1340_1342del (p.Asn447del)
c.1714_1716del
c.956_958del (p.Asn319del)
c.1337_1339del (p.Asn446del)
c.1079_1081del (p.Asn360del)
c.181_183del
n.1610_1612del
n.1577_1579del
 ClinVar dbSNP
19g.11113635_11113648dupCA915952548LDLRc.1717_1730dup (p.Asp578ThrfsTer20)
c.1459_1472dup (p.Asp492ThrfsTer20)
c.1339_1352dup (p.Asp452ThrfsTer20)
c.1713_1726dup
c.955_968dup (p.Asp324ThrfsTer20)
c.1336_1349dup (p.Asp451ThrfsTer20)
c.1078_1091dup (p.Asp365ThrfsTer20)
c.180_193dup
n.1609_1622dup
n.1576_1589dup
 ClinVar dbSNP
19g.11113635A>CCA404086168LDLRc.1717A>C (p.Asn573His)
c.1459A>C (p.Asn487His)
c.1339A>C (p.Asn447His)
c.1713A>C
c.955A>C (p.Asn319His)
c.1336A>C (p.Asn446His)
c.1078A>C (p.Asn360His)
c.180A>C
n.1609A>C
n.1576A>C
19g.11113635A>GCA404086170LDLRc.1717A>G (p.Asn573Asp)
c.1459A>G (p.Asn487Asp)
c.1339A>G (p.Asn447Asp)
c.1713A>G
c.955A>G (p.Asn319Asp)
c.1336A>G (p.Asn446Asp)
c.1078A>G (p.Asn360Asp)
c.180A>G
n.1609A>G
n.1576A>G
19g.11113635A>TCA404086172LDLRc.1717A>T (p.Asn573Tyr)
c.1459A>T (p.Asn487Tyr)
c.1339A>T (p.Asn447Tyr)
c.1713A>T
c.955A>T (p.Asn319Tyr)
c.1336A>T (p.Asn446Tyr)
c.1078A>T (p.Asn360Tyr)
c.180A>T
n.1609A>T
n.1576A>T
19g.11113636delCA2497030065LDLRc.1718del (p.Asn573ThrfsTer20)
c.1460del (p.Asn487ThrfsTer20)
c.1340del (p.Asn447ThrfsTer20)
c.1714del
c.956del (p.Asn319ThrfsTer20)
c.1337del (p.Asn446ThrfsTer20)
c.1079del (p.Asn360ThrfsTer20)
c.181del
n.1610del
n.1577del
19g.11113636A=CA2322771957LDLRc.1718A= (p.Asn573=)
c.1460A= (p.Asn487=)
c.1340A= (p.Asn447=)
c.1714A=
c.956A= (p.Asn319=)
c.1337A= (p.Asn446=)
c.1079A= (p.Asn360=)
c.181A=
n.1610A=
n.1577A=
19g.11113636A>CCA404086180LDLRc.1718A>C (p.Asn573Thr)
c.1460A>C (p.Asn487Thr)
c.1340A>C (p.Asn447Thr)
c.1714A>C
c.956A>C (p.Asn319Thr)
c.1337A>C (p.Asn446Thr)
c.1079A>C (p.Asn360Thr)
c.181A>C
n.1610A>C
n.1577A>C
19g.11113636A>GCA10585464LDLRc.1718A>G (p.Asn573Ser)
c.1460A>G (p.Asn487Ser)
c.1340A>G (p.Asn447Ser)
c.1714A>G
c.956A>G (p.Asn319Ser)
c.1337A>G (p.Asn446Ser)
c.1079A>G (p.Asn360Ser)
c.181A>G
n.1610A>G
n.1577A>G
 ClinVar dbSNP gnomAD v4
19g.11113636A>TCA404086175LDLRc.1718A>T (p.Asn573Ile)
c.1460A>T (p.Asn487Ile)
c.1340A>T (p.Asn447Ile)
c.1714A>T
c.956A>T (p.Asn319Ile)
c.1337A>T (p.Asn446Ile)
c.1079A>T (p.Asn360Ile)
c.181A>T
n.1610A>T
n.1577A>T
19g.11113637C>ACA404086183LDLRc.1719C>A (p.Asn573Lys)
c.1461C>A (p.Asn487Lys)
c.1341C>A (p.Asn447Lys)
c.1715C>A
c.957C>A (p.Asn319Lys)
c.1338C>A (p.Asn446Lys)
c.1080C>A (p.Asn360Lys)
c.182C>A
n.1611C>A
n.1578C>A
19g.11113637C>GCA404086186LDLRc.1719C>G (p.Asn573Lys)
c.1461C>G (p.Asn487Lys)
c.1341C>G (p.Asn447Lys)
c.1715C>G
c.957C>G (p.Asn319Lys)
c.1338C>G (p.Asn446Lys)
c.1080C>G (p.Asn360Lys)
c.182C>G
n.1611C>G
n.1578C>G
19g.11113637C>TCA505743144LDLRc.1719C>T (p.Asn573=)
c.1461C>T (p.Asn487=)
c.1341C>T (p.Asn447=)
c.1715C>T
c.957C>T (p.Asn319=)
c.1338C>T (p.Asn446=)
c.1080C>T (p.Asn360=)
c.182C>T
n.1611C>T
n.1578C>T
 ClinVar dbSNP
19g.11113637dupCA658799138LDLRc.1719dup (p.Ile574HisfsTer?)
c.1461dup (p.Ile488HisfsTer?)
c.1341dup (p.Ile448HisfsTer?)
c.1715dup
c.957dup (p.Ile320HisfsTer?)
c.1338dup (p.Ile447HisfsTer?)
c.1080dup (p.Ile361HisfsTer?)
c.182dup
n.1611dup
n.1578dup
 ClinVar dbSNP
19g.11113638A=CA2322771958LDLRc.1720A= (p.Ile574=)
c.1462A= (p.Ile488=)
c.1342A= (p.Ile448=)
c.1716A=
c.958A= (p.Ile320=)
c.1339A= (p.Ile447=)
c.1081A= (p.Ile361=)
c.183A=
n.1612A=
n.1579A=
19g.11113638A>CCA404086191LDLRc.1720A>C (p.Ile574Leu)
c.1462A>C (p.Ile488Leu)
c.1342A>C (p.Ile448Leu)
c.1716A>C
c.958A>C (p.Ile320Leu)
c.1339A>C (p.Ile447Leu)
c.1081A>C (p.Ile361Leu)
c.183A>C
n.1612A>C
n.1579A>C
19g.11113638A>GCA404086194LDLRc.1720A>G (p.Ile574Val)
c.1462A>G (p.Ile488Val)
c.1342A>G (p.Ile448Val)
c.1716A>G
c.958A>G (p.Ile320Val)
c.1339A>G (p.Ile447Val)
c.1081A>G (p.Ile361Val)
c.183A>G
n.1612A>G
n.1579A>G
19g.11113638A>TCA404086197LDLRc.1720A>T (p.Ile574Phe)
c.1462A>T (p.Ile488Phe)
c.1342A>T (p.Ile448Phe)
c.1716A>T
c.958A>T (p.Ile320Phe)
c.1339A>T (p.Ile447Phe)
c.1081A>T (p.Ile361Phe)
c.183A>T
n.1612A>T
n.1579A>T
19g.11113638_11113639insCCA658799139LDLRc.1720_1721insC (p.Ile574ThrfsTer?)
c.1462_1463insC (p.Ile488ThrfsTer?)
c.1342_1343insC (p.Ile448ThrfsTer?)
c.1716_1717insC
c.958_959insC (p.Ile320ThrfsTer?)
c.1339_1340insC (p.Ile447ThrfsTer?)
c.1081_1082insC (p.Ile361ThrfsTer?)
c.183_184insC
n.1612_1613insC
n.1579_1580insC
 ClinVar dbSNP
19g.11113639T>ACA10585466LDLRc.1721T>A (p.Ile574Asn)
c.1463T>A (p.Ile488Asn)
c.1343T>A (p.Ile448Asn)
c.1717T>A
c.959T>A (p.Ile320Asn)
c.1340T>A (p.Ile447Asn)
c.1082T>A (p.Ile361Asn)
c.184T>A
n.1613T>A
n.1580T>A
 ClinVar dbSNP gnomAD v4
19g.11113639T>CCA10585467LDLRc.1721T>C (p.Ile574Thr)
c.1463T>C (p.Ile488Thr)
c.1343T>C (p.Ile448Thr)
c.1717T>C
c.959T>C (p.Ile320Thr)
c.1340T>C (p.Ile447Thr)
c.1082T>C (p.Ile361Thr)
c.184T>C
n.1613T>C
n.1580T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11113639T>GCA10585468LDLRc.1721T>G (p.Ile574Ser)
c.1463T>G (p.Ile488Ser)
c.1343T>G (p.Ile448Ser)
c.1717T>G
c.959T>G (p.Ile320Ser)
c.1340T>G (p.Ile447Ser)
c.1082T>G (p.Ile361Ser)
c.184T>G
n.1613T>G
n.1580T>G
 ClinVar dbSNP
19g.11113639T=CA2322771959LDLRc.1721T= (p.Ile574=)
c.1463T= (p.Ile488=)
c.1343T= (p.Ile448=)
c.1717T=
c.959T= (p.Ile320=)
c.1340T= (p.Ile447=)
c.1082T= (p.Ile361=)
c.184T=
n.1613T=
n.1580T=
19g.11113640_11113641delCA2580096442LDLRc.1722_1723del (p.Tyr575LeufsTer?)
c.1464_1465del (p.Tyr489LeufsTer?)
c.1344_1345del (p.Tyr449LeufsTer?)
c.1718_1719del
c.960_961del (p.Tyr321LeufsTer?)
c.1341_1342del (p.Tyr448LeufsTer?)
c.1083_1084del (p.Tyr362LeufsTer?)
c.185_186del
n.1614_1615del
n.1581_1582del
 ClinVar
19g.11113640C>ACA505743152LDLRc.1722C>A (p.Ile574=)
c.1464C>A (p.Ile488=)
c.1344C>A (p.Ile448=)
c.1718C>A
c.960C>A (p.Ile320=)
c.1341C>A (p.Ile447=)
c.1083C>A (p.Ile361=)
c.185C>A
n.1614C>A
n.1581C>A
 gnomAD v4
19g.11113640C=CA2322771960LDLRc.1722C= (p.Ile574=)
c.1464C= (p.Ile488=)
c.1344C= (p.Ile448=)
c.1718C=
c.960C= (p.Ile320=)
c.1341C= (p.Ile447=)
c.1083C= (p.Ile361=)
c.185C=
n.1614C=
n.1581C=
19g.11113640C>GCA305300112LDLRc.1722C>G (p.Ile574Met)
c.1464C>G (p.Ile488Met)
c.1344C>G (p.Ile448Met)
c.1718C>G
c.960C>G (p.Ile320Met)
c.1341C>G (p.Ile447Met)
c.1083C>G (p.Ile361Met)
c.185C>G
n.1614C>G
n.1581C>G
 dbSNP gnomAD v4
19g.11113640C>TCA505743154LDLRc.1722C>T (p.Ile574=)
c.1464C>T (p.Ile488=)
c.1344C>T (p.Ile448=)
c.1718C>T
c.960C>T (p.Ile320=)
c.1341C>T (p.Ile447=)
c.1083C>T (p.Ile361=)
c.185C>T
n.1614C>T
n.1581C>T
19g.11113641T>ACA404086209LDLRc.1723T>A (p.Tyr575Asn)
c.1465T>A (p.Tyr489Asn)
c.1345T>A (p.Tyr449Asn)
c.1719T>A
c.961T>A (p.Tyr321Asn)
c.1342T>A (p.Tyr448Asn)
c.1084T>A (p.Tyr362Asn)
c.186T>A
n.1615T>A
n.1582T>A
19g.11113641T>CCA404086210LDLRc.1723T>C (p.Tyr575His)
c.1465T>C (p.Tyr489His)
c.1345T>C (p.Tyr449His)
c.1719T>C
c.961T>C (p.Tyr321His)
c.1342T>C (p.Tyr448His)
c.1084T>C (p.Tyr362His)
c.186T>C
n.1615T>C
n.1582T>C
19g.11113641T>GCA404086211LDLRc.1723T>G (p.Tyr575Asp)
c.1465T>G (p.Tyr489Asp)
c.1345T>G (p.Tyr449Asp)
c.1719T>G
c.961T>G (p.Tyr321Asp)
c.1342T>G (p.Tyr448Asp)
c.1084T>G (p.Tyr362Asp)
c.186T>G
n.1615T>G
n.1582T>G
19g.11113642A=CA2322771961LDLRc.1724A= (p.Tyr575=)
c.1466A= (p.Tyr489=)
c.1346A= (p.Tyr449=)
c.1720A=
c.962A= (p.Tyr321=)
c.1343A= (p.Tyr448=)
c.1085A= (p.Tyr362=)
c.187A=
n.1616A=
n.1583A=
19g.11113642A>CCA404086218LDLRc.1724A>C (p.Tyr575Ser)
c.1466A>C (p.Tyr489Ser)
c.1346A>C (p.Tyr449Ser)
c.1720A>C
c.962A>C (p.Tyr321Ser)
c.1343A>C (p.Tyr448Ser)
c.1085A>C (p.Tyr362Ser)
c.187A>C
n.1616A>C
n.1583A>C
19g.11113642A>GCA10585469LDLRc.1724A>G (p.Tyr575Cys)
c.1466A>G (p.Tyr489Cys)
c.1346A>G (p.Tyr449Cys)
c.1720A>G
c.962A>G (p.Tyr321Cys)
c.1343A>G (p.Tyr448Cys)
c.1085A>G (p.Tyr362Cys)
c.187A>G
n.1616A>G
n.1583A>G
 ClinVar dbSNP
19g.11113642A>TCA404086215LDLRc.1724A>T (p.Tyr575Phe)
c.1466A>T (p.Tyr489Phe)
c.1346A>T (p.Tyr449Phe)
c.1720A>T
c.962A>T (p.Tyr321Phe)
c.1343A>T (p.Tyr448Phe)
c.1085A>T (p.Tyr362Phe)
c.187A>T
n.1616A>T
n.1583A>T
19g.11113643C>ACA404086227LDLRc.1725C>A (p.Tyr575Ter)
c.1467C>A (p.Tyr489Ter)
c.1347C>A (p.Tyr449Ter)
c.1721C>A
c.963C>A (p.Tyr321Ter)
c.1344C>A (p.Tyr448Ter)
c.1086C>A (p.Tyr362Ter)
c.188C>A
n.1617C>A
n.1584C>A
 ClinVar dbSNP
19g.11113643C=CA2322771962LDLRc.1725C= (p.Tyr575=)
c.1467C= (p.Tyr489=)
c.1347C= (p.Tyr449=)
c.1721C=
c.963C= (p.Tyr321=)
c.1344C= (p.Tyr448=)
c.1086C= (p.Tyr362=)
c.188C=
n.1617C=
n.1584C=
19g.11113643C>GCA023505LDLRc.1725C>G (p.Tyr575Ter)
c.1467C>G (p.Tyr489Ter)
c.1347C>G (p.Tyr449Ter)
c.1721C>G
c.963C>G (p.Tyr321Ter)
c.1344C>G (p.Tyr448Ter)
c.1086C>G (p.Tyr362Ter)
c.188C>G
n.1617C>G
n.1584C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113643C>TCA505743158LDLRc.1725C>T (p.Tyr575=)
c.1467C>T (p.Tyr489=)
c.1347C>T (p.Tyr449=)
c.1721C>T
c.963C>T (p.Tyr321=)
c.1344C>T (p.Tyr448=)
c.1086C>T (p.Tyr362=)
c.188C>T
n.1617C>T
n.1584C>T
 ClinVar dbSNP
19g.11113644T>ACA404086231LDLRc.1726T>A (p.Trp576Arg)
c.1468T>A (p.Trp490Arg)
c.1348T>A (p.Trp450Arg)
c.1722T>A
c.964T>A (p.Trp322Arg)
c.1345T>A (p.Trp449Arg)
c.1087T>A (p.Trp363Arg)
c.189T>A
n.1618T>A
n.1585T>A
19g.11113644T>CCA023507LDLRc.1726T>C (p.Trp576Arg)
c.1468T>C (p.Trp490Arg)
c.1348T>C (p.Trp450Arg)
c.1722T>C
c.964T>C (p.Trp322Arg)
c.1345T>C (p.Trp449Arg)
c.1087T>C (p.Trp363Arg)
c.189T>C
n.1618T>C
n.1585T>C
 ClinVar dbSNP
19g.11113644T>GCA10585470LDLRc.1726T>G (p.Trp576Gly)
c.1468T>G (p.Trp490Gly)
c.1348T>G (p.Trp450Gly)
c.1722T>G
c.964T>G (p.Trp322Gly)
c.1345T>G (p.Trp449Gly)
c.1087T>G (p.Trp363Gly)
c.189T>G
n.1618T>G
n.1585T>G
 ClinVar dbSNP
19g.11113644T=CA2322771963LDLRc.1726T= (p.Trp576=)
c.1468T= (p.Trp490=)
c.1348T= (p.Trp450=)
c.1722T=
c.964T= (p.Trp322=)
c.1345T= (p.Trp449=)
c.1087T= (p.Trp363=)
c.189T=
n.1618T=
n.1585T=
19g.11113645G>ACA10576307LDLRc.1727G>A (p.Trp576Ter)
c.1469G>A (p.Trp490Ter)
c.1349G>A (p.Trp450Ter)
c.1723G>A
c.965G>A (p.Trp322Ter)
c.1346G>A (p.Trp449Ter)
c.1088G>A (p.Trp363Ter)
c.190G>A
n.1619G>A
n.1586G>A
 ClinVar dbSNP
19g.11113645G>CCA404086238LDLRc.1727G>C (p.Trp576Ser)
c.1469G>C (p.Trp490Ser)
c.1349G>C (p.Trp450Ser)
c.1723G>C
c.965G>C (p.Trp322Ser)
c.1346G>C (p.Trp449Ser)
c.1088G>C (p.Trp363Ser)
c.190G>C
n.1619G>C
n.1586G>C
 ClinVar
19g.11113645G=CA2322771964LDLRc.1727G= (p.Trp576=)
c.1469G= (p.Trp490=)
c.1349G= (p.Trp450=)
c.1723G=
c.965G= (p.Trp322=)
c.1346G= (p.Trp449=)
c.1088G= (p.Trp363=)
c.190G=
n.1619G=
n.1586G=
19g.11113645G>TCA10576308LDLRc.1727G>T (p.Trp576Leu)
c.1469G>T (p.Trp490Leu)
c.1349G>T (p.Trp450Leu)
c.1723G>T
c.965G>T (p.Trp322Leu)
c.1346G>T (p.Trp449Leu)
c.1088G>T (p.Trp363Leu)
c.190G>T
n.1619G>T
n.1586G>T
 ClinVar dbSNP
19g.11113646G>ACA10585471LDLRc.1728G>A (p.Trp576Ter)
c.1470G>A (p.Trp490Ter)
c.1350G>A (p.Trp450Ter)
c.1724G>A
c.966G>A (p.Trp322Ter)
c.1347G>A (p.Trp449Ter)
c.1089G>A (p.Trp363Ter)
c.191G>A
n.1620G>A
n.1587G>A
 ClinVar dbSNP
19g.11113646G>CCA404086245LDLRc.1728G>C (p.Trp576Cys)
c.1470G>C (p.Trp490Cys)
c.1350G>C (p.Trp450Cys)
c.1724G>C
c.966G>C (p.Trp322Cys)
c.1347G>C (p.Trp449Cys)
c.1089G>C (p.Trp363Cys)
c.191G>C
n.1620G>C
n.1587G>C
 ClinVar dbSNP
19g.11113646G=CA2322771965LDLRc.1728G= (p.Trp576=)
c.1470G= (p.Trp490=)
c.1350G= (p.Trp450=)
c.1724G=
c.966G= (p.Trp322=)
c.1347G= (p.Trp449=)
c.1089G= (p.Trp363=)
c.191G=
n.1620G=
n.1587G=
19g.11113646G>TCA404086248LDLRc.1728G>T (p.Trp576Cys)
c.1470G>T (p.Trp490Cys)
c.1350G>T (p.Trp450Cys)
c.1724G>T
c.966G>T (p.Trp322Cys)
c.1347G>T (p.Trp449Cys)
c.1089G>T (p.Trp363Cys)
c.191G>T
n.1620G>T
n.1587G>T
 ClinVar gnomAD v4
19g.11113647A>CCA404086257LDLRc.1729A>C (p.Thr577Pro)
c.1471A>C (p.Thr491Pro)
c.1351A>C (p.Thr451Pro)
c.1725A>C
c.967A>C (p.Thr323Pro)
c.1348A>C (p.Thr450Pro)
c.1090A>C (p.Thr364Pro)
c.192A>C
n.1621A>C
n.1588A>C
19g.11113647A>GCA404086255LDLRc.1729A>G (p.Thr577Ala)
c.1471A>G (p.Thr491Ala)
c.1351A>G (p.Thr451Ala)
c.1725A>G
c.967A>G (p.Thr323Ala)
c.1348A>G (p.Thr450Ala)
c.1090A>G (p.Thr364Ala)
c.192A>G
n.1621A>G
n.1588A>G
 ClinVar
19g.11113647A>TCA404086253LDLRc.1729A>T (p.Thr577Ser)
c.1471A>T (p.Thr491Ser)
c.1351A>T (p.Thr451Ser)
c.1725A>T
c.967A>T (p.Thr323Ser)
c.1348A>T (p.Thr450Ser)
c.1090A>T (p.Thr364Ser)
c.192A>T
n.1621A>T
n.1588A>T
19g.11113647dupCA10585472LDLRc.1729dup (p.Thr577AsnfsTer?)
c.1471dup (p.Thr491AsnfsTer?)
c.1351dup (p.Thr451AsnfsTer?)
c.1725dup
c.967dup (p.Thr323AsnfsTer?)
c.1348dup (p.Thr450AsnfsTer?)
c.1090dup (p.Thr364AsnfsTer?)
c.192dup
n.1621dup
n.1588dup
 ClinVar dbSNP
19g.11113648C>ACA10585473LDLRc.1730C>A (p.Thr577Asn)
c.1472C>A (p.Thr491Asn)
c.1352C>A (p.Thr451Asn)
c.1726C>A
c.968C>A (p.Thr323Asn)
c.1349C>A (p.Thr450Asn)
c.1091C>A (p.Thr364Asn)
c.193C>A
n.1622C>A
n.1589C>A
 ClinVar dbSNP gnomAD v4
19g.11113648C=CA2322771966LDLRc.1730C= (p.Thr577=)
c.1472C= (p.Thr491=)
c.1352C= (p.Thr451=)
c.1726C=
c.968C= (p.Thr323=)
c.1349C= (p.Thr450=)
c.1091C= (p.Thr364=)
c.193C=
n.1622C=
n.1589C=
19g.11113648C>GCA404086262LDLRc.1730C>G (p.Thr577Ser)
c.1472C>G (p.Thr491Ser)
c.1352C>G (p.Thr451Ser)
c.1726C>G
c.968C>G (p.Thr323Ser)
c.1349C>G (p.Thr450Ser)
c.1091C>G (p.Thr364Ser)
c.193C>G
n.1622C>G
n.1589C>G
19g.11113648C>TCA404086265LDLRc.1730C>T (p.Thr577Ile)
c.1472C>T (p.Thr491Ile)
c.1352C>T (p.Thr451Ile)
c.1726C>T
c.968C>T (p.Thr323Ile)
c.1349C>T (p.Thr450Ile)
c.1091C>T (p.Thr364Ile)
c.193C>T
n.1622C>T
n.1589C>T
19g.11113649C>ACA505743243LDLRc.1731C>A (p.Thr577=)
c.1473C>A (p.Thr491=)
c.1353C>A (p.Thr451=)
c.1727C>A
c.969C>A (p.Thr323=)
c.1350C>A (p.Thr450=)
c.1092C>A (p.Thr364=)
c.194C>A
n.1623C>A
n.1590C>A
 dbSNP gnomAD v2 gnomAD v4
19g.11113649C=CA2322771968LDLRc.1731C= (p.Thr577=)
c.1473C= (p.Thr491=)
c.1353C= (p.Thr451=)
c.1727C=
c.969C= (p.Thr323=)
c.1350C= (p.Thr450=)
c.1092C= (p.Thr364=)
c.194C=
n.1623C=
n.1590C=
19g.11113649C>GCA505743244LDLRc.1731C>G (p.Thr577=)
c.1473C>G (p.Thr491=)
c.1353C>G (p.Thr451=)
c.1727C>G
c.969C>G (p.Thr323=)
c.1350C>G (p.Thr450=)
c.1092C>G (p.Thr364=)
c.194C>G
n.1623C>G
n.1590C>G
 ClinVar dbSNP gnomAD v4
19g.11113649C>TCA034436LDLRc.1731C>T (p.Thr577=)
c.1473C>T (p.Thr491=)
c.1353C>T (p.Thr451=)
c.1727C>T
c.969C>T (p.Thr323=)
c.1350C>T (p.Thr450=)
c.1092C>T (p.Thr364=)
c.194C>T
n.1623C>T
n.1590C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113649_11113650delinsCGCA2322771967LDLRc.1731_1732delinsCG (p.Thr577=)
c.1473_1474delinsCG (p.Thr491=)
c.1353_1354delinsCG (p.Thr451=)
c.1727_1728delinsCG
c.969_970delinsCG (p.Thr323=)
c.1350_1351delinsCG (p.Thr450=)
c.1092_1093delinsCG (p.Thr364=)
c.194_195delinsCG
n.1623_1624delinsCG
n.1590_1591delinsCG
19g.11113650delCA645373232LDLRc.1732del (p.Asp578ThrfsTer15)
c.1474del (p.Asp492ThrfsTer15)
c.1354del (p.Asp452ThrfsTer15)
c.1728del
c.970del (p.Asp324ThrfsTer15)
c.1351del (p.Asp451ThrfsTer15)
c.1093del (p.Asp365ThrfsTer15)
c.195del
n.1624del
n.1591del
 ClinVar dbSNP
19g.11113650G>ACA023512LDLRc.1732G>A (p.Asp578Asn)
c.1474G>A (p.Asp492Asn)
c.1354G>A (p.Asp452Asn)
c.1728G>A
c.970G>A (p.Asp324Asn)
c.1351G>A (p.Asp451Asn)
c.1093G>A (p.Asp365Asn)
c.195G>A
n.1624G>A
n.1591G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11113650G>CCA10585474LDLRc.1732G>C (p.Asp578His)
c.1474G>C (p.Asp492His)
c.1354G>C (p.Asp452His)
c.1728G>C
c.970G>C (p.Asp324His)
c.1351G>C (p.Asp451His)
c.1093G>C (p.Asp365His)
c.195G>C
n.1624G>C
n.1591G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11113650G=CA2322771969LDLRc.1732G= (p.Asp578=)
c.1474G= (p.Asp492=)
c.1354G= (p.Asp452=)
c.1728G=
c.970G= (p.Asp324=)
c.1351G= (p.Asp451=)
c.1093G= (p.Asp365=)
c.195G=
n.1624G=
n.1591G=
19g.11113650G>TCA404086274LDLRc.1732G>T (p.Asp578Tyr)
c.1474G>T (p.Asp492Tyr)
c.1354G>T (p.Asp452Tyr)
c.1728G>T
c.970G>T (p.Asp324Tyr)
c.1351G>T (p.Asp451Tyr)
c.1093G>T (p.Asp365Tyr)
c.195G>T
n.1624G>T
n.1591G>T
 ClinVar gnomAD v4
19g.11113651A=CA2322771971LDLRc.1733A= (p.Asp578=)
c.1475A= (p.Asp492=)
c.1355A= (p.Asp452=)
c.1729A=
c.971A= (p.Asp324=)
c.1352A= (p.Asp451=)
c.1094A= (p.Asp365=)
c.196A=
n.1625A=
n.1592A=
19g.11113651A>CCA404086278LDLRc.1733A>C (p.Asp578Ala)
c.1475A>C (p.Asp492Ala)
c.1355A>C (p.Asp452Ala)
c.1729A>C
c.971A>C (p.Asp324Ala)
c.1352A>C (p.Asp451Ala)
c.1094A>C (p.Asp365Ala)
c.196A>C
n.1625A>C
n.1592A>C
19g.11113651A>GCA10585475LDLRc.1733A>G (p.Asp578Gly)
c.1475A>G (p.Asp492Gly)
c.1355A>G (p.Asp452Gly)
c.1729A>G
c.971A>G (p.Asp324Gly)
c.1352A>G (p.Asp451Gly)
c.1094A>G (p.Asp365Gly)
c.196A>G
n.1625A>G
n.1592A>G
 ClinVar dbSNP
19g.11113651A>TCA404086282LDLRc.1733A>T (p.Asp578Val)
c.1475A>T (p.Asp492Val)
c.1355A>T (p.Asp452Val)
c.1729A>T
c.971A>T (p.Asp324Val)
c.1352A>T (p.Asp451Val)
c.1094A>T (p.Asp365Val)
c.196A>T
n.1625A>T
n.1592A>T
19g.11113651_11113653delinsACTCA2322771970LDLRc.1733_1735delinsACT (p.Asp578=)
c.1475_1477delinsACT (p.Asp492=)
c.1355_1357delinsACT (p.Asp452=)
c.1729_1731delinsACT
c.971_973delinsACT (p.Asp324=)
c.1352_1354delinsACT (p.Asp451=)
c.1094_1096delinsACT (p.Asp365=)
c.196_198delinsACT
n.1625_1627delinsACT
n.1592_1594delinsACT
19g.11113652C>ACA404086296LDLRc.1734C>A (p.Asp578Glu)
c.1476C>A (p.Asp492Glu)
c.1356C>A (p.Asp452Glu)
c.1730C>A
c.972C>A (p.Asp324Glu)
c.1353C>A (p.Asp451Glu)
c.1095C>A (p.Asp365Glu)
c.197C>A
n.1626C>A
n.1593C>A
19g.11113652C>GCA404086294LDLRc.1734C>G (p.Asp578Glu)
c.1476C>G (p.Asp492Glu)
c.1356C>G (p.Asp452Glu)
c.1730C>G
c.972C>G (p.Asp324Glu)
c.1353C>G (p.Asp451Glu)
c.1095C>G (p.Asp365Glu)
c.197C>G
n.1626C>G
n.1593C>G
19g.11113652C>TCA505743249LDLRc.1734C>T (p.Asp578=)
c.1476C>T (p.Asp492=)
c.1356C>T (p.Asp452=)
c.1730C>T
c.972C>T (p.Asp324=)
c.1353C>T (p.Asp451=)
c.1095C>T (p.Asp365=)
c.197C>T
n.1626C>T
n.1593C>T
19g.11113652_11113655delinsCTCTCA2322771972LDLRc.1734_1737delinsCTCT (p.Asp578=)
c.1476_1479delinsCTCT (p.Asp492=)
c.1356_1359delinsCTCT (p.Asp452=)
c.1730_1733delinsCTCT
c.972_975delinsCTCT (p.Asp324=)
c.1353_1356delinsCTCT (p.Asp451=)
c.1095_1098delinsCTCT (p.Asp365=)
c.197_200delinsCTCT
n.1626_1629delinsCTCT
n.1593_1596delinsCTCT
19g.11113654_11113655delCA351758LDLRc.1736_1737del (p.Ser579CysfsTer?)
c.1478_1479del (p.Ser493CysfsTer?)
c.1358_1359del (p.Ser453CysfsTer?)
c.1732_1733del
c.974_975del (p.Ser325CysfsTer?)
c.1355_1356del (p.Ser452CysfsTer?)
c.1097_1098del (p.Ser366CysfsTer?)
c.199_200del
n.1628_1629del
n.1595_1596del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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.11113653T>ACA404086309LDLRc.1735T>A (p.Ser579Thr)
c.1477T>A (p.Ser493Thr)
c.1357T>A (p.Ser453Thr)
c.1731T>A
c.973T>A (p.Ser325Thr)
c.1354T>A (p.Ser452Thr)
c.1096T>A (p.Ser366Thr)
c.198T>A
n.1627T>A
n.1594T>A
19g.11113653T>CCA404086303LDLRc.1735T>C (p.Ser579Pro)
c.1477T>C (p.Ser493Pro)
c.1357T>C (p.Ser453Pro)
c.1731T>C
c.973T>C (p.Ser325Pro)
c.1354T>C (p.Ser452Pro)
c.1096T>C (p.Ser366Pro)
c.198T>C
n.1627T>C
n.1594T>C
19g.11113653T>GCA404086306LDLRc.1735T>G (p.Ser579Ala)
c.1477T>G (p.Ser493Ala)
c.1357T>G (p.Ser453Ala)
c.1731T>G
c.973T>G (p.Ser325Ala)
c.1354T>G (p.Ser452Ala)
c.1096T>G (p.Ser366Ala)
c.198T>G
n.1627T>G
n.1594T>G
19g.11113653_11113654delinsTCCA2322771973LDLRc.1735_1736delinsTC (p.Ser579=)
c.1477_1478delinsTC (p.Ser493=)
c.1357_1358delinsTC (p.Ser453=)
c.1731_1732delinsTC
c.973_974delinsTC (p.Ser325=)
c.1354_1355delinsTC (p.Ser452=)
c.1096_1097delinsTC (p.Ser366=)
c.198_199delinsTC
n.1627_1628delinsTC
n.1594_1595delinsTC
19g.11113653_11113655delinsAGAGACACA10585476LDLRc.1735_1737delinsAGAGACA (p.Ser579ArgfsTer?)
c.1477_1479delinsAGAGACA (p.Ser493ArgfsTer?)
c.1357_1359delinsAGAGACA (p.Ser453ArgfsTer?)
c.1731_1733delinsAGAGACA
c.973_975delinsAGAGACA (p.Ser325ArgfsTer?)
c.1354_1356delinsAGAGACA (p.Ser452ArgfsTer?)
c.1096_1098delinsAGAGACA (p.Ser366ArgfsTer?)
c.198_200delinsAGAGACA
n.1627_1629delinsAGAGACA
n.1594_1596delinsAGAGACA
 ClinVar dbSNP
19g.11113654delCA16602330LDLRc.1736del (p.Ser579LeufsTer14)
c.1478del (p.Ser493LeufsTer14)
c.1358del (p.Ser453LeufsTer14)
c.1732del
c.974del (p.Ser325LeufsTer14)
c.1355del (p.Ser452LeufsTer14)
c.1097del (p.Ser366LeufsTer14)
c.199del
n.1628del
n.1595del
 ClinVar dbSNP
19g.11113654C>ACA404086320LDLRc.1736C>A (p.Ser579Tyr)
c.1478C>A (p.Ser493Tyr)
c.1358C>A (p.Ser453Tyr)
c.1732C>A
c.974C>A (p.Ser325Tyr)
c.1355C>A (p.Ser452Tyr)
c.1097C>A (p.Ser366Tyr)
c.199C>A
n.1628C>A
n.1595C>A
19g.11113654C=CA2322771974LDLRc.1736C= (p.Ser579=)
c.1478C= (p.Ser493=)
c.1358C= (p.Ser453=)
c.1732C=
c.974C= (p.Ser325=)
c.1355C= (p.Ser452=)
c.1097C= (p.Ser366=)
c.199C=
n.1628C=
n.1595C=
19g.11113654C>GCA404086311LDLRc.1736C>G (p.Ser579Cys)
c.1478C>G (p.Ser493Cys)
c.1358C>G (p.Ser453Cys)
c.1732C>G
c.974C>G (p.Ser325Cys)
c.1355C>G (p.Ser452Cys)
c.1097C>G (p.Ser366Cys)
c.199C>G
n.1628C>G
n.1595C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11113654C>TCA404086314LDLRc.1736C>T (p.Ser579Phe)
c.1478C>T (p.Ser493Phe)
c.1358C>T (p.Ser453Phe)
c.1732C>T
c.974C>T (p.Ser325Phe)
c.1355C>T (p.Ser452Phe)
c.1097C>T (p.Ser366Phe)
c.199C>T
n.1628C>T
n.1595C>T
19g.11113655T>ACA505743252LDLRc.1737T>A (p.Ser579=)
c.1479T>A (p.Ser493=)
c.1359T>A (p.Ser453=)
c.1733T>A
c.975T>A (p.Ser325=)
c.1356T>A (p.Ser452=)
c.1098T>A (p.Ser366=)
c.200T>A
n.1629T>A
n.1596T>A
19g.11113655T>CCA034467LDLRc.1737T>C (p.Ser579=)
c.1479T>C (p.Ser493=)
c.1359T>C (p.Ser453=)
c.1733T>C
c.975T>C (p.Ser325=)
c.1356T>C (p.Ser452=)
c.1098T>C (p.Ser366=)
c.200T>C
n.1629T>C
n.1596T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113655T>GCA505743254LDLRc.1737T>G (p.Ser579=)
c.1479T>G (p.Ser493=)
c.1359T>G (p.Ser453=)
c.1733T>G
c.975T>G (p.Ser325=)
c.1356T>G (p.Ser452=)
c.1098T>G (p.Ser366=)
c.200T>G
n.1629T>G
n.1596T>G
19g.11113655T=CA2322771975LDLRc.1737T= (p.Ser579=)
c.1479T= (p.Ser493=)
c.1359T= (p.Ser453=)
c.1733T=
c.975T= (p.Ser325=)
c.1356T= (p.Ser452=)
c.1098T= (p.Ser366=)
c.200T=
n.1629T=
n.1596T=
19g.11113656G>ACA404086326LDLRc.1738G>A (p.Val580Ile)
c.1480G>A (p.Val494Ile)
c.1360G>A (p.Val454Ile)
c.1734G>A
c.976G>A (p.Val326Ile)
c.1357G>A (p.Val453Ile)
c.1099G>A (p.Val367Ile)
c.201G>A
n.1630G>A
n.1597G>A
19g.11113656G>CCA404086327LDLRc.1738G>C (p.Val580Leu)
c.1480G>C (p.Val494Leu)
c.1360G>C (p.Val454Leu)
c.1734G>C
c.976G>C (p.Val326Leu)
c.1357G>C (p.Val453Leu)
c.1099G>C (p.Val367Leu)
c.201G>C
n.1630G>C
n.1597G>C
19g.11113656G>TCA404086329LDLRc.1738G>T (p.Val580Phe)
c.1480G>T (p.Val494Phe)
c.1360G>T (p.Val454Phe)
c.1734G>T
c.976G>T (p.Val326Phe)
c.1357G>T (p.Val453Phe)
c.1099G>T (p.Val367Phe)
c.201G>T
n.1630G>T
n.1597G>T
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
 ClinVar 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

Number of alleles fetched