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.11113376_11113417delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTACCA2322771760LDLRc.1543_1584delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val515=)
c.1285_1326delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val429=)
c.1165_1206delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val389=)
c.1539_1580delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
c.781_822delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val261=)
c.1162_1203delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val388=)
c.904_945delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC (p.Val302=)
c.6_47delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
n.284_325delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
c.765_806delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
n.1435_1476delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
n.1402_1443delinsGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGAATCTAC
19g.11113382_11113422delCA10585388LDLRc.1549_1589del (p.Ala517Ter)
c.1291_1331del (p.Ala431Ter)
c.1171_1211del (p.Ala391Ter)
c.1545_1585del
c.787_827del (p.Ala263Ter)
c.1168_1208del (p.Ala390Ter)
c.910_950del (p.Ala304Ter)
c.12_52del
n.290_330del
c.771_811del
n.1441_1481del
n.1408_1448del
ClinVar dbSNP
19g.11113405C>ACA404085137LDLRc.1572C>A (p.Ser524Arg)
c.1314C>A (p.Ser438Arg)
c.1194C>A (p.Ser398Arg)
c.1568C>A
c.810C>A (p.Ser270Arg)
c.1191C>A (p.Ser397Arg)
c.933C>A (p.Ser311Arg)
c.35C>A
n.313C>A
c.794C>A
n.1464C>A
n.1431C>A
19g.11113405C=CA2322771782LDLRc.1572C= (p.Ser524=)
c.1314C= (p.Ser438=)
c.1194C= (p.Ser398=)
c.1568C=
c.810C= (p.Ser270=)
c.1191C= (p.Ser397=)
c.933C= (p.Ser311=)
c.35C=
n.313C=
c.794C=
n.1464C=
n.1431C=
19g.11113405C>GCA404085138LDLRc.1572C>G (p.Ser524Arg)
c.1314C>G (p.Ser438Arg)
c.1194C>G (p.Ser398Arg)
c.1568C>G
c.810C>G (p.Ser270Arg)
c.1191C>G (p.Ser397Arg)
c.933C>G (p.Ser311Arg)
c.35C>G
n.313C>G
c.794C>G
n.1464C>G
n.1431C>G
19g.11113405C>TCA505743234LDLRc.1572C>T (p.Ser524=)
c.1314C>T (p.Ser438=)
c.1194C>T (p.Ser398=)
c.1568C>T
c.810C>T (p.Ser270=)
c.1191C>T (p.Ser397=)
c.933C>T (p.Ser311=)
c.35C>T
n.313C>T
c.794C>T
n.1464C>T
n.1431C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11113406A=CA2322771783LDLRc.1573A= (p.Asn525=)
c.1315A= (p.Asn439=)
c.1195A= (p.Asn399=)
c.1569A=
c.811A= (p.Asn271=)
c.1192A= (p.Asn398=)
c.934A= (p.Asn312=)
c.36A=
n.314A=
c.795A=
n.1465A=
n.1432A=
19g.11113406A>CCA404085140LDLRc.1573A>C (p.Asn525His)
c.1315A>C (p.Asn439His)
c.1195A>C (p.Asn399His)
c.1569A>C
c.811A>C (p.Asn271His)
c.1192A>C (p.Asn398His)
c.934A>C (p.Asn312His)
c.36A>C
n.314A>C
c.795A>C
n.1465A>C
n.1432A>C
19g.11113406A>GCA404085143LDLRc.1573A>G (p.Asn525Asp)
c.1315A>G (p.Asn439Asp)
c.1195A>G (p.Asn399Asp)
c.1569A>G
c.811A>G (p.Asn271Asp)
c.1192A>G (p.Asn398Asp)
c.934A>G (p.Asn312Asp)
c.36A>G
n.314A>G
c.795A>G
n.1465A>G
n.1432A>G
19g.11113406A>TCA16602328LDLRc.1573A>T (p.Asn525Tyr)
c.1315A>T (p.Asn439Tyr)
c.1195A>T (p.Asn399Tyr)
c.1569A>T
c.811A>T (p.Asn271Tyr)
c.1192A>T (p.Asn398Tyr)
c.934A>T (p.Asn312Tyr)
c.36A>T
n.314A>T
c.795A>T
n.1465A>T
n.1432A>T
ClinVar dbSNP
19g.11113406_11113407delCA2582474642LDLRc.1573_1574del (p.Asn525Ter)
c.1315_1316del (p.Asn439Ter)
c.1195_1196del (p.Asn399Ter)
c.1569_1570del
c.811_812del (p.Asn271Ter)
c.1192_1193del (p.Asn398Ter)
c.934_935del (p.Asn312Ter)
c.36_37del
n.314_315del
c.795_796del
n.1465_1466del
n.1432_1433del
gnomAD v4
19g.11113407A>CCA404085144LDLRc.1574A>C (p.Asn525Thr)
c.1316A>C (p.Asn439Thr)
c.1196A>C (p.Asn399Thr)
c.1570A>C
c.812A>C (p.Asn271Thr)
c.1193A>C (p.Asn398Thr)
c.935A>C (p.Asn312Thr)
c.37A>C
n.315A>C
c.796A>C
n.1466A>C
n.1433A>C
19g.11113407A>GCA404085145LDLRc.1574A>G (p.Asn525Ser)
c.1316A>G (p.Asn439Ser)
c.1196A>G (p.Asn399Ser)
c.1570A>G
c.812A>G (p.Asn271Ser)
c.1193A>G (p.Asn398Ser)
c.935A>G (p.Asn312Ser)
c.37A>G
n.315A>G
c.796A>G
n.1466A>G
n.1433A>G
19g.11113407A>TCA404085147LDLRc.1574A>T (p.Asn525Ile)
c.1316A>T (p.Asn439Ile)
c.1196A>T (p.Asn399Ile)
c.1570A>T
c.812A>T (p.Asn271Ile)
c.1193A>T (p.Asn398Ile)
c.935A>T (p.Asn312Ile)
c.37A>T
n.315A>T
c.796A>T
n.1466A>T
n.1433A>T
19g.11113408T>ACA404085149LDLRc.1575T>A (p.Asn525Lys)
c.1317T>A (p.Asn439Lys)
c.1197T>A (p.Asn399Lys)
c.1571T>A
c.813T>A (p.Asn271Lys)
c.1194T>A (p.Asn398Lys)
c.936T>A (p.Asn312Lys)
c.38T>A
n.316T>A
c.797T>A
n.1467T>A
n.1434T>A
19g.11113408T>CCA505743237LDLRc.1575T>C (p.Asn525=)
c.1317T>C (p.Asn439=)
c.1197T>C (p.Asn399=)
c.1571T>C
c.813T>C (p.Asn271=)
c.1194T>C (p.Asn398=)
c.936T>C (p.Asn312=)
c.38T>C
n.316T>C
c.797T>C
n.1467T>C
n.1434T>C
ClinVar dbSNP
19g.11113408T>GCA10585397LDLRc.1575T>G (p.Asn525Lys)
c.1317T>G (p.Asn439Lys)
c.1197T>G (p.Asn399Lys)
c.1571T>G
c.813T>G (p.Asn271Lys)
c.1194T>G (p.Asn398Lys)
c.936T>G (p.Asn312Lys)
c.38T>G
n.316T>G
c.797T>G
n.1467T>G
n.1434T>G
ClinVar dbSNP gnomAD v4
19g.11113408T=CA2322771784LDLRc.1575T= (p.Asn525=)
c.1317T= (p.Asn439=)
c.1197T= (p.Asn399=)
c.1571T=
c.813T= (p.Asn271=)
c.1194T= (p.Asn398=)
c.936T= (p.Asn312=)
c.38T=
n.316T=
c.797T=
n.1467T=
n.1434T=
19g.11113409A=CA2322771785LDLRc.1576A= (p.Arg526=)
c.1318A= (p.Arg440=)
c.1198A= (p.Arg400=)
c.1572A=
c.814A= (p.Arg272=)
c.1195A= (p.Arg399=)
c.937A= (p.Arg313=)
c.39A=
n.317A=
c.798A=
n.1468A=
n.1435A=
19g.11113409A>CCA505743238LDLRc.1576A>C (p.Arg526=)
c.1318A>C (p.Arg440=)
c.1198A>C (p.Arg400=)
c.1572A>C
c.814A>C (p.Arg272=)
c.1195A>C (p.Arg399=)
c.937A>C (p.Arg313=)
c.39A>C
n.317A>C
c.798A>C
n.1468A>C
n.1435A>C
19g.11113409A>GCA10585398LDLRc.1576A>G (p.Arg526Gly)
c.1318A>G (p.Arg440Gly)
c.1198A>G (p.Arg400Gly)
c.1572A>G
c.814A>G (p.Arg272Gly)
c.1195A>G (p.Arg399Gly)
c.937A>G (p.Arg313Gly)
c.39A>G
n.317A>G
c.798A>G
n.1468A>G
n.1435A>G
ClinVar dbSNP gnomAD v4
19g.11113409A>TCA404085158LDLRc.1576A>T (p.Arg526Ter)
c.1318A>T (p.Arg440Ter)
c.1198A>T (p.Arg400Ter)
c.1572A>T
c.814A>T (p.Arg272Ter)
c.1195A>T (p.Arg399Ter)
c.937A>T (p.Arg313Ter)
c.39A>T
n.317A>T
c.798A>T
n.1468A>T
n.1435A>T
19g.11113410G>ACA404085162LDLRc.1577G>A (p.Arg526Lys)
c.1319G>A (p.Arg440Lys)
c.1199G>A (p.Arg400Lys)
c.1573G>A
c.815G>A (p.Arg272Lys)
c.1196G>A (p.Arg399Lys)
c.938G>A (p.Arg313Lys)
c.40G>A
n.318G>A
c.799G>A
n.1469G>A
n.1436G>A
19g.11113410G>CCA404085164LDLRc.1577G>C (p.Arg526Thr)
c.1319G>C (p.Arg440Thr)
c.1199G>C (p.Arg400Thr)
c.1573G>C
c.815G>C (p.Arg272Thr)
c.1196G>C (p.Arg399Thr)
c.938G>C (p.Arg313Thr)
c.40G>C
n.318G>C
c.799G>C
n.1469G>C
n.1436G>C
dbSNP gnomAD v2 gnomAD v4
19g.11113410G=CA2322771786LDLRc.1577G= (p.Arg526=)
c.1319G= (p.Arg440=)
c.1199G= (p.Arg400=)
c.1573G=
c.815G= (p.Arg272=)
c.1196G= (p.Arg399=)
c.938G= (p.Arg313=)
c.40G=
n.318G=
c.799G=
n.1469G=
n.1436G=
19g.11113410G>TCA404085166LDLRc.1577G>T (p.Arg526Ile)
c.1319G>T (p.Arg440Ile)
c.1199G>T (p.Arg400Ile)
c.1573G>T
c.815G>T (p.Arg272Ile)
c.1196G>T (p.Arg399Ile)
c.938G>T (p.Arg313Ile)
c.40G>T
n.318G>T
c.799G>T
n.1469G>T
n.1436G>T
19g.11113412_11113425delCA2497030061LDLRc.1579_1592del (p.Ile527ProfsTer12)
c.1321_1334del (p.Ile441ProfsTer12)
c.1201_1214del (p.Ile401ProfsTer12)
c.1575_1588del
c.817_830del (p.Ile273ProfsTer12)
c.1198_1211del (p.Ile400ProfsTer12)
c.940_953del (p.Ile314ProfsTer12)
c.42_55del
n.320_333del
c.801_814del
n.1471_1484del
n.1438_1451del
19g.11113411A>CCA404085170LDLRc.1578A>C (p.Arg526Ser)
c.1320A>C (p.Arg440Ser)
c.1200A>C (p.Arg400Ser)
c.1574A>C
c.816A>C (p.Arg272Ser)
c.1197A>C (p.Arg399Ser)
c.939A>C (p.Arg313Ser)
c.41A>C
n.319A>C
c.800A>C
n.1470A>C
n.1437A>C
19g.11113411A>GCA505743239LDLRc.1578A>G (p.Arg526=)
c.1320A>G (p.Arg440=)
c.1200A>G (p.Arg400=)
c.1574A>G
c.816A>G (p.Arg272=)
c.1197A>G (p.Arg399=)
c.939A>G (p.Arg313=)
c.41A>G
n.319A>G
c.800A>G
n.1470A>G
n.1437A>G
19g.11113411A>TCA404085174LDLRc.1578A>T (p.Arg526Ser)
c.1320A>T (p.Arg440Ser)
c.1200A>T (p.Arg400Ser)
c.1574A>T
c.816A>T (p.Arg272Ser)
c.1197A>T (p.Arg399Ser)
c.939A>T (p.Arg313Ser)
c.41A>T
n.319A>T
c.800A>T
n.1470A>T
n.1437A>T
19g.11113412A>CCA404085175LDLRc.1579A>C (p.Ile527Leu)
c.1321A>C (p.Ile441Leu)
c.1201A>C (p.Ile401Leu)
c.1575A>C
c.817A>C (p.Ile273Leu)
c.1198A>C (p.Ile400Leu)
c.940A>C (p.Ile314Leu)
c.42A>C
n.320A>C
c.801A>C
n.1471A>C
n.1438A>C
19g.11113412A>GCA404085179LDLRc.1579A>G (p.Ile527Val)
c.1321A>G (p.Ile441Val)
c.1201A>G (p.Ile401Val)
c.1575A>G
c.817A>G (p.Ile273Val)
c.1198A>G (p.Ile400Val)
c.940A>G (p.Ile314Val)
c.42A>G
n.320A>G
c.801A>G
n.1471A>G
n.1438A>G
19g.11113412A>TCA404085177LDLRc.1579A>T (p.Ile527Phe)
c.1321A>T (p.Ile441Phe)
c.1201A>T (p.Ile401Phe)
c.1575A>T
c.817A>T (p.Ile273Phe)
c.1198A>T (p.Ile400Phe)
c.940A>T (p.Ile314Phe)
c.42A>T
n.320A>T
c.801A>T
n.1471A>T
n.1438A>T
19g.11113413T>ACA10585399LDLRc.1580T>A (p.Ile527Asn)
c.1322T>A (p.Ile441Asn)
c.1202T>A (p.Ile401Asn)
c.1576T>A
c.818T>A (p.Ile273Asn)
c.1199T>A (p.Ile400Asn)
c.941T>A (p.Ile314Asn)
c.43T>A
n.321T>A
c.802T>A
n.1472T>A
n.1439T>A
ClinVar dbSNP
19g.11113413T>CCA10585400LDLRc.1580T>C (p.Ile527Thr)
c.1322T>C (p.Ile441Thr)
c.1202T>C (p.Ile401Thr)
c.1576T>C
c.818T>C (p.Ile273Thr)
c.1199T>C (p.Ile400Thr)
c.941T>C (p.Ile314Thr)
c.43T>C
n.321T>C
c.802T>C
n.1472T>C
n.1439T>C
ClinVar dbSNP
19g.11113413T>GCA404085186LDLRc.1580T>G (p.Ile527Ser)
c.1322T>G (p.Ile441Ser)
c.1202T>G (p.Ile401Ser)
c.1576T>G
c.818T>G (p.Ile273Ser)
c.1199T>G (p.Ile400Ser)
c.941T>G (p.Ile314Ser)
c.43T>G
n.321T>G
c.802T>G
n.1472T>G
n.1439T>G
19g.11113413T=CA2322771787LDLRc.1580T= (p.Ile527=)
c.1322T= (p.Ile441=)
c.1202T= (p.Ile401=)
c.1576T=
c.818T= (p.Ile273=)
c.1199T= (p.Ile400=)
c.941T= (p.Ile314=)
c.43T=
n.321T=
c.802T=
n.1472T=
n.1439T=
19g.11113414C>ACA505743241LDLRc.1581C>A (p.Ile527=)
c.1323C>A (p.Ile441=)
c.1203C>A (p.Ile401=)
c.1577C>A
c.819C>A (p.Ile273=)
c.1200C>A (p.Ile400=)
c.942C>A (p.Ile314=)
c.44C>A
n.322C>A
c.803C>A
n.1473C>A
n.1440C>A
ClinVar dbSNP
19g.11113414C=CA2322771788LDLRc.1581C= (p.Ile527=)
c.1323C= (p.Ile441=)
c.1203C= (p.Ile401=)
c.1577C=
c.819C= (p.Ile273=)
c.1200C= (p.Ile400=)
c.942C= (p.Ile314=)
c.44C=
n.322C=
c.803C=
n.1473C=
n.1440C=
19g.11113414C>GCA10585401LDLRc.1581C>G (p.Ile527Met)
c.1323C>G (p.Ile441Met)
c.1203C>G (p.Ile401Met)
c.1577C>G
c.819C>G (p.Ile273Met)
c.1200C>G (p.Ile400Met)
c.942C>G (p.Ile314Met)
c.44C>G
n.322C>G
c.803C>G
n.1473C>G
n.1440C>G
ClinVar dbSNP gnomAD v4
19g.11113414C>TCA033568LDLRc.1581C>T (p.Ile527=)
c.1323C>T (p.Ile441=)
c.1203C>T (p.Ile401=)
c.1577C>T
c.819C>T (p.Ile273=)
c.1200C>T (p.Ile400=)
c.942C>T (p.Ile314=)
c.44C>T
n.322C>T
c.803C>T
n.1473C>T
n.1440C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113415T>ACA10585402LDLRc.1582T>A (p.Tyr528Asn)
c.1324T>A (p.Tyr442Asn)
c.1204T>A (p.Tyr402Asn)
c.1578T>A
c.820T>A (p.Tyr274Asn)
c.1201T>A (p.Tyr401Asn)
c.943T>A (p.Tyr315Asn)
c.45T>A
n.323T>A
c.804T>A
n.1474T>A
n.1441T>A
ClinVar dbSNP
19g.11113415T>CCA10585403LDLRc.1582T>C (p.Tyr528His)
c.1324T>C (p.Tyr442His)
c.1204T>C (p.Tyr402His)
c.1578T>C
c.820T>C (p.Tyr274His)
c.1201T>C (p.Tyr401His)
c.943T>C (p.Tyr315His)
c.45T>C
n.323T>C
c.804T>C
n.1474T>C
n.1441T>C
ClinVar dbSNP
19g.11113415T>GCA404085201LDLRc.1582T>G (p.Tyr528Asp)
c.1324T>G (p.Tyr442Asp)
c.1204T>G (p.Tyr402Asp)
c.1578T>G
c.820T>G (p.Tyr274Asp)
c.1201T>G (p.Tyr401Asp)
c.943T>G (p.Tyr315Asp)
c.45T>G
n.323T>G
c.804T>G
n.1474T>G
n.1441T>G
19g.11113415T=CA2322771789LDLRc.1582T= (p.Tyr528=)
c.1324T= (p.Tyr442=)
c.1204T= (p.Tyr402=)
c.1578T=
c.820T= (p.Tyr274=)
c.1201T= (p.Tyr401=)
c.943T= (p.Tyr315=)
c.45T=
n.323T=
c.804T=
n.1474T=
n.1441T=
19g.11113416A=CA2322771790LDLRc.1583A= (p.Tyr528=)
c.1325A= (p.Tyr442=)
c.1205A= (p.Tyr402=)
c.1579A=
c.821A= (p.Tyr274=)
c.1202A= (p.Tyr401=)
c.944A= (p.Tyr315=)
c.46A=
n.324A=
c.805A=
n.1475A=
n.1442A=

Number of alleles fetched