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.11113438A=CA2322771807LDLRc.1605A= (p.Arg535=)
c.1347A= (p.Arg449=)
c.1227A= (p.Arg409=)
c.1601A=
c.843A= (p.Arg281=)
c.1224A= (p.Arg408=)
c.966A= (p.Arg322=)
c.68A=
n.346A=
c.827A=
n.1497A=
n.1464A=
19g.11113438A>CCA404085345LDLRc.1605A>C (p.Arg535Ser)
c.1347A>C (p.Arg449Ser)
c.1227A>C (p.Arg409Ser)
c.1601A>C
c.843A>C (p.Arg281Ser)
c.1224A>C (p.Arg408Ser)
c.966A>C (p.Arg322Ser)
c.68A>C
n.346A>C
c.827A>C
n.1497A>C
n.1464A>C
19g.11113438A>GCA305300078LDLRc.1605A>G (p.Arg535=)
c.1347A>G (p.Arg449=)
c.1227A>G (p.Arg409=)
c.1601A>G
c.843A>G (p.Arg281=)
c.1224A>G (p.Arg408=)
c.966A>G (p.Arg322=)
c.68A>G
n.346A>G
c.827A>G
n.1497A>G
n.1464A>G
 dbSNP
19g.11113438A>TCA404085351LDLRc.1605A>T (p.Arg535Ser)
c.1347A>T (p.Arg449Ser)
c.1227A>T (p.Arg409Ser)
c.1601A>T
c.843A>T (p.Arg281Ser)
c.1224A>T (p.Arg408Ser)
c.966A>T (p.Arg322Ser)
c.68A>T
n.346A>T
c.827A>T
n.1497A>T
n.1464A>T
19g.11113439A>CCA404085354LDLRc.1606A>C (p.Met536Leu)
c.1348A>C (p.Met450Leu)
c.1228A>C (p.Met410Leu)
c.1602A>C
c.844A>C (p.Met282Leu)
c.1225A>C (p.Met409Leu)
c.967A>C (p.Met323Leu)
c.69A>C
n.347A>C
c.828A>C
n.1498A>C
n.1465A>C
19g.11113439A>GCA404085356LDLRc.1606A>G (p.Met536Val)
c.1348A>G (p.Met450Val)
c.1228A>G (p.Met410Val)
c.1602A>G
c.844A>G (p.Met282Val)
c.1225A>G (p.Met409Val)
c.967A>G (p.Met323Val)
c.69A>G
n.347A>G
c.828A>G
n.1498A>G
n.1465A>G
19g.11113439A>TCA404085360LDLRc.1606A>T (p.Met536Leu)
c.1348A>T (p.Met450Leu)
c.1228A>T (p.Met410Leu)
c.1602A>T
c.844A>T (p.Met282Leu)
c.1225A>T (p.Met409Leu)
c.967A>T (p.Met323Leu)
c.69A>T
n.347A>T
c.828A>T
n.1498A>T
n.1465A>T
19g.11113440T>ACA404085364LDLRc.1607T>A (p.Met536Lys)
c.1349T>A (p.Met450Lys)
c.1229T>A (p.Met410Lys)
c.1603T>A
c.845T>A (p.Met282Lys)
c.1226T>A (p.Met409Lys)
c.968T>A (p.Met323Lys)
c.70T>A
n.348T>A
c.829T>A
n.1499T>A
n.1466T>A
19g.11113440T>CCA404085368LDLRc.1607T>C (p.Met536Thr)
c.1349T>C (p.Met450Thr)
c.1229T>C (p.Met410Thr)
c.1603T>C
c.845T>C (p.Met282Thr)
c.1226T>C (p.Met409Thr)
c.968T>C (p.Met323Thr)
c.70T>C
n.348T>C
c.829T>C
n.1499T>C
n.1466T>C
19g.11113440T>GCA404085370LDLRc.1607T>G (p.Met536Arg)
c.1349T>G (p.Met450Arg)
c.1229T>G (p.Met410Arg)
c.1603T>G
c.845T>G (p.Met282Arg)
c.1226T>G (p.Met409Arg)
c.968T>G (p.Met323Arg)
c.70T>G
n.348T>G
c.829T>G
n.1499T>G
n.1466T>G
19g.11113441G>ACA404085373LDLRc.1608G>A (p.Met536Ile)
c.1350G>A (p.Met450Ile)
c.1230G>A (p.Met410Ile)
c.1604G>A
c.846G>A (p.Met282Ile)
c.1227G>A (p.Met409Ile)
c.969G>A (p.Met323Ile)
c.71G>A
n.349G>A
c.830G>A
n.1500G>A
n.1467G>A
 COSMIC
19g.11113441G>CCA404085375LDLRc.1608G>C (p.Met536Ile)
c.1350G>C (p.Met450Ile)
c.1230G>C (p.Met410Ile)
c.1604G>C
c.846G>C (p.Met282Ile)
c.1227G>C (p.Met409Ile)
c.969G>C (p.Met323Ile)
c.71G>C
n.349G>C
c.830G>C
n.1500G>C
n.1467G>C
19g.11113441G>TCA404085377LDLRc.1608G>T (p.Met536Ile)
c.1350G>T (p.Met450Ile)
c.1230G>T (p.Met410Ile)
c.1604G>T
c.846G>T (p.Met282Ile)
c.1227G>T (p.Met409Ile)
c.969G>T (p.Met323Ile)
c.71G>T
n.349G>T
c.830G>T
n.1500G>T
n.1467G>T
 gnomAD v4
19g.11113442A=CA2322771808LDLRc.1609A= (p.Ile537=)
c.1351A= (p.Ile451=)
c.1231A= (p.Ile411=)
c.1605A=
c.847A= (p.Ile283=)
c.1228A= (p.Ile410=)
c.970A= (p.Ile324=)
c.72A=
n.350A=
c.831A=
n.1501A=
n.1468A=
19g.11113442A>CCA404085386LDLRc.1609A>C (p.Ile537Leu)
c.1351A>C (p.Ile451Leu)
c.1231A>C (p.Ile411Leu)
c.1605A>C
c.847A>C (p.Ile283Leu)
c.1228A>C (p.Ile410Leu)
c.970A>C (p.Ile324Leu)
c.72A>C
n.350A>C
c.831A>C
n.1501A>C
n.1468A>C
19g.11113442A>GCA404085385LDLRc.1609A>G (p.Ile537Val)
c.1351A>G (p.Ile451Val)
c.1231A>G (p.Ile411Val)
c.1605A>G
c.847A>G (p.Ile283Val)
c.1228A>G (p.Ile410Val)
c.970A>G (p.Ile324Val)
c.72A>G
n.350A>G
c.831A>G
n.1501A>G
n.1468A>G
 ClinVar gnomAD v4
19g.11113442A>TCA10585416LDLRc.1609A>T (p.Ile537Phe)
c.1351A>T (p.Ile451Phe)
c.1231A>T (p.Ile411Phe)
c.1605A>T
c.847A>T (p.Ile283Phe)
c.1228A>T (p.Ile410Phe)
c.970A>T (p.Ile324Phe)
c.72A>T
n.350A>T
c.831A>T
n.1501A>T
n.1468A>T
 ClinVar dbSNP
19g.11113443T>ACA404085389LDLRc.1610T>A (p.Ile537Asn)
c.1352T>A (p.Ile451Asn)
c.1232T>A (p.Ile411Asn)
c.1606T>A
c.848T>A (p.Ile283Asn)
c.1229T>A (p.Ile410Asn)
c.971T>A (p.Ile324Asn)
c.73T>A
n.351T>A
c.832T>A
n.1502T>A
n.1469T>A
19g.11113443T>CCA10585417LDLRc.1610T>C (p.Ile537Thr)
c.1352T>C (p.Ile451Thr)
c.1232T>C (p.Ile411Thr)
c.1606T>C
c.848T>C (p.Ile283Thr)
c.1229T>C (p.Ile410Thr)
c.971T>C (p.Ile324Thr)
c.73T>C
n.351T>C
c.832T>C
n.1502T>C
n.1469T>C
 ClinVar dbSNP
19g.11113443T>GCA404085395LDLRc.1610T>G (p.Ile537Ser)
c.1352T>G (p.Ile451Ser)
c.1232T>G (p.Ile411Ser)
c.1606T>G
c.848T>G (p.Ile283Ser)
c.1229T>G (p.Ile410Ser)
c.971T>G (p.Ile324Ser)
c.73T>G
n.351T>G
c.832T>G
n.1502T>G
n.1469T>G
19g.11113443T=CA2322771809LDLRc.1610T= (p.Ile537=)
c.1352T= (p.Ile451=)
c.1232T= (p.Ile411=)
c.1606T=
c.848T= (p.Ile283=)
c.1229T= (p.Ile410=)
c.971T= (p.Ile324=)
c.73T=
n.351T=
c.832T=
n.1502T=
n.1469T=
19g.11113444C>ACA505743277LDLRc.1611C>A (p.Ile537=)
c.1353C>A (p.Ile451=)
c.1233C>A (p.Ile411=)
c.1607C>A
c.849C>A (p.Ile283=)
c.1230C>A (p.Ile410=)
c.972C>A (p.Ile324=)
c.74C>A
n.352C>A
c.833C>A
n.1503C>A
n.1470C>A
19g.11113444C=CA2322771810LDLRc.1611C= (p.Ile537=)
c.1353C= (p.Ile451=)
c.1233C= (p.Ile411=)
c.1607C=
c.849C= (p.Ile283=)
c.1230C= (p.Ile410=)
c.972C= (p.Ile324=)
c.74C=
n.352C=
c.833C=
n.1503C=
n.1470C=
19g.11113444C>GCA404085398LDLRc.1611C>G (p.Ile537Met)
c.1353C>G (p.Ile451Met)
c.1233C>G (p.Ile411Met)
c.1607C>G
c.849C>G (p.Ile283Met)
c.1230C>G (p.Ile410Met)
c.972C>G (p.Ile324Met)
c.74C>G
n.352C>G
c.833C>G
n.1503C>G
n.1470C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11113444C>TCA505743278LDLRc.1611C>T (p.Ile537=)
c.1353C>T (p.Ile451=)
c.1233C>T (p.Ile411=)
c.1607C>T
c.849C>T (p.Ile283=)
c.1230C>T (p.Ile410=)
c.972C>T (p.Ile324=)
c.74C>T
n.352C>T
c.833C>T
n.1503C>T
n.1470C>T
 gnomAD v4
19g.11113445T>ACA404085401LDLRc.1612T>A (p.Cys538Ser)
c.1354T>A (p.Cys452Ser)
c.1234T>A (p.Cys412Ser)
c.1608T>A
c.850T>A (p.Cys284Ser)
c.1231T>A (p.Cys411Ser)
c.973T>A (p.Cys325Ser)
c.75T>A
n.353T>A
c.834T>A
n.1504T>A
n.1471T>A
 dbSNP
19g.11113445T>CCA404085404LDLRc.1612T>C (p.Cys538Arg)
c.1354T>C (p.Cys452Arg)
c.1234T>C (p.Cys412Arg)
c.1608T>C
c.850T>C (p.Cys284Arg)
c.1231T>C (p.Cys411Arg)
c.973T>C (p.Cys325Arg)
c.75T>C
n.353T>C
c.834T>C
n.1504T>C
n.1471T>C
19g.11113445T>GCA404085407LDLRc.1612T>G (p.Cys538Gly)
c.1354T>G (p.Cys452Gly)
c.1234T>G (p.Cys412Gly)
c.1608T>G
c.850T>G (p.Cys284Gly)
c.1231T>G (p.Cys411Gly)
c.973T>G (p.Cys325Gly)
c.75T>G
n.353T>G
c.834T>G
n.1504T>G
n.1471T>G
19g.11113445T=CA2322771811LDLRc.1612T= (p.Cys538=)
c.1354T= (p.Cys452=)
c.1234T= (p.Cys412=)
c.1608T=
c.850T= (p.Cys284=)
c.1231T= (p.Cys411=)
c.973T= (p.Cys325=)
c.75T=
n.353T=
c.834T=
n.1504T=
n.1471T=
19g.11113445_11113496delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGGCA2322771812LDLRc.1612_1617-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
c.1354_1359-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
c.1234_1239-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
c.1608_1613-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
c.850_855-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
c.1231_1236-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
c.973_978-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
c.75_80-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
c.834_839-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
n.1504_1509-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
n.1471_1476-39delinsTGCAGGTGAGCGTCGCCCCTGCCTGCAGCCTTGGCCCGCAGGTGAGATGAGG
19g.11113446G>ACA404085411LDLRc.1613G>A (p.Cys538Tyr)
c.1355G>A (p.Cys452Tyr)
c.1235G>A (p.Cys412Tyr)
c.1609G>A
c.851G>A (p.Cys284Tyr)
c.1232G>A (p.Cys411Tyr)
c.974G>A (p.Cys325Tyr)
c.76G>A
n.354G>A
c.835G>A
n.1505G>A
n.1472G>A
19g.11113446G>CCA404085414LDLRc.1613G>C (p.Cys538Ser)
c.1355G>C (p.Cys452Ser)
c.1235G>C (p.Cys412Ser)
c.1609G>C
c.851G>C (p.Cys284Ser)
c.1232G>C (p.Cys411Ser)
c.974G>C (p.Cys325Ser)
c.76G>C
n.354G>C
c.835G>C
n.1505G>C
n.1472G>C
19g.11113446G=CA2322771813LDLRc.1613G= (p.Cys538=)
c.1355G= (p.Cys452=)
c.1235G= (p.Cys412=)
c.1609G=
c.851G= (p.Cys284=)
c.1232G= (p.Cys411=)
c.974G= (p.Cys325=)
c.76G=
n.354G=
c.835G=
n.1505G=
n.1472G=
19g.11113446G>TCA404085417LDLRc.1613G>T (p.Cys538Phe)
c.1355G>T (p.Cys452Phe)
c.1235G>T (p.Cys412Phe)
c.1609G>T
c.851G>T (p.Cys284Phe)
c.1232G>T (p.Cys411Phe)
c.974G>T (p.Cys325Phe)
c.76G>T
n.354G>T
c.835G>T
n.1505G>T
n.1472G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11113448_11113498delCA915952545LDLRc.1615_1617-37del
c.1357_1359-37del
c.1237_1239-37del
c.1611_1613-37del
c.853_855-37del
c.1234_1236-37del
c.976_978-37del
c.78_80-37del
c.837_839-37del
n.1507_1509-37del
n.1474_1476-37del
 ClinVar dbSNP
19g.11113447C>ACA404085419LDLRc.1614C>A (p.Cys538Ter)
c.1356C>A (p.Cys452Ter)
c.1236C>A (p.Cys412Ter)
c.1610C>A
c.852C>A (p.Cys284Ter)
c.1233C>A (p.Cys411Ter)
c.975C>A (p.Cys325Ter)
c.77C>A
n.355C>A
c.836C>A
n.1506C>A
n.1473C>A
 ClinVar dbSNP
19g.11113447C=CA2322771814LDLRc.1614C= (p.Cys538=)
c.1356C= (p.Cys452=)
c.1236C= (p.Cys412=)
c.1610C=
c.852C= (p.Cys284=)
c.1233C= (p.Cys411=)
c.975C= (p.Cys325=)
c.77C=
n.355C=
c.836C=
n.1506C=
n.1473C=
19g.11113447C>GCA404085421LDLRc.1614C>G (p.Cys538Trp)
c.1356C>G (p.Cys452Trp)
c.1236C>G (p.Cys412Trp)
c.1610C>G
c.852C>G (p.Cys284Trp)
c.1233C>G (p.Cys411Trp)
c.975C>G (p.Cys325Trp)
c.77C>G
n.355C>G
c.836C>G
n.1506C>G
n.1473C>G
19g.11113447C>TCA023457LDLRc.1614C>T (p.Cys538=)
c.1356C>T (p.Cys452=)
c.1236C>T (p.Cys412=)
c.1610C>T
c.852C>T (p.Cys284=)
c.1233C>T (p.Cys411=)
c.975C>T (p.Cys325=)
c.77C>T
n.355C>T
c.836C>T
n.1506C>T
n.1473C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11113447_11113448delinsCACA2322771815LDLRc.1614_1615delinsCA (p.Cys538=)
c.1356_1357delinsCA (p.Cys452=)
c.1236_1237delinsCA (p.Cys412=)
c.1610_1611delinsCA
c.852_853delinsCA (p.Cys284=)
c.1233_1234delinsCA (p.Cys411=)
c.975_976delinsCA (p.Cys325=)
c.77_78delinsCA
n.355_356delinsCA
c.836_837delinsCA
n.1506_1507delinsCA
n.1473_1474delinsCA
19g.11113448delCA916081219LDLRc.1615del (p.Ser539AlafsTer?)
c.1357del (p.Ser453AlafsTer?)
c.1237del (p.Ser413AlafsTer?)
c.1611del
c.853del (p.Ser285AlafsTer?)
c.1234del (p.Ser412AlafsTer?)
c.976del (p.Ser326AlafsTer?)
c.78del
n.356del
c.837del
n.1507del
n.1474del
 ClinVar dbSNP
19g.11113448A=CA2322771816LDLRc.1615A= (p.Ser539=)
c.1357A= (p.Ser453=)
c.1237A= (p.Ser413=)
c.1611A=
c.853A= (p.Ser285=)
c.1234A= (p.Ser412=)
c.976A= (p.Ser326=)
c.78A=
n.356A=
c.837A=
n.1507A=
n.1474A=
19g.11113448A>CCA404085431LDLRc.1615A>C (p.Ser539Arg)
c.1357A>C (p.Ser453Arg)
c.1237A>C (p.Ser413Arg)
c.1611A>C
c.853A>C (p.Ser285Arg)
c.1234A>C (p.Ser412Arg)
c.976A>C (p.Ser326Arg)
c.78A>C
n.356A>C
c.837A>C
n.1507A>C
n.1474A>C
19g.11113448A>GCA033719LDLRc.1615A>G (p.Ser539Gly)
c.1357A>G (p.Ser453Gly)
c.1237A>G (p.Ser413Gly)
c.1611A>G
c.853A>G (p.Ser285Gly)
c.1234A>G (p.Ser412Gly)
c.976A>G (p.Ser326Gly)
c.78A>G
n.356A>G
c.837A>G
n.1507A>G
n.1474A>G
 ClinVar dbSNP ExAC gnomAD v4
19g.11113448A>TCA404085427LDLRc.1615A>T (p.Ser539Cys)
c.1357A>T (p.Ser453Cys)
c.1237A>T (p.Ser413Cys)
c.1611A>T
c.853A>T (p.Ser285Cys)
c.1234A>T (p.Ser412Cys)
c.976A>T (p.Ser326Cys)
c.78A>T
n.356A>T
c.837A>T
n.1507A>T
n.1474A>T
19g.11113449G>ACA404085435LDLRc.1616G>A (p.Ser539Asn)
c.1358G>A (p.Ser453Asn)
c.1238G>A (p.Ser413Asn)
c.1612G>A
c.854G>A (p.Ser285Asn)
c.1235G>A (p.Ser412Asn)
c.977G>A (p.Ser326Asn)
c.79G>A
n.357G>A
c.838G>A
n.1508G>A
n.1475G>A
 gnomAD v4

Number of alleles fetched