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.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.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.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

Number of alleles fetched