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.11113539_11113549delinsCAGCTTGACAGCA2322771877LDLRc.1621_1631delinsCAGCTTGACAG (p.Gln541=)
c.1363_1373delinsCAGCTTGACAG (p.Gln455=)
c.1243_1253delinsCAGCTTGACAG (p.Gln415=)
c.1617_1627delinsCAGCTTGACAG
c.859_869delinsCAGCTTGACAG (p.Gln287=)
c.1240_1250delinsCAGCTTGACAG (p.Gln414=)
c.982_992delinsCAGCTTGACAG (p.Gln328=)
c.84_94delinsCAGCTTGACAG
c.843_853delinsCAGCTTGACAG
n.1513_1523delinsCAGCTTGACAG
n.1480_1490delinsCAGCTTGACAG
19g.11113543_11113552delCA10585430LDLRc.1625_1634del (p.Leu542ProfsTer?)
c.1367_1376del (p.Leu456ProfsTer?)
c.1247_1256del (p.Leu416ProfsTer?)
c.1621_1630del
c.863_872del (p.Leu288ProfsTer?)
c.1244_1253del (p.Leu415ProfsTer?)
c.986_995del (p.Leu329ProfsTer?)
c.88_97del
c.847_856del
n.1517_1526del
n.1484_1493del
 ClinVar dbSNP gnomAD v4
19g.11113542C>ACA404085583LDLRc.1624C>A (p.Leu542Ile)
c.1366C>A (p.Leu456Ile)
c.1246C>A (p.Leu416Ile)
c.1620C>A
c.862C>A (p.Leu288Ile)
c.1243C>A (p.Leu415Ile)
c.985C>A (p.Leu329Ile)
c.87C>A
c.846C>A
n.1516C>A
n.1483C>A
19g.11113542C=CA2322771879LDLRc.1624C= (p.Leu542=)
c.1366C= (p.Leu456=)
c.1246C= (p.Leu416=)
c.1620C=
c.862C= (p.Leu288=)
c.1243C= (p.Leu415=)
c.985C= (p.Leu329=)
c.87C=
c.846C=
n.1516C=
n.1483C=
19g.11113542C>GCA404085585LDLRc.1624C>G (p.Leu542Val)
c.1366C>G (p.Leu456Val)
c.1246C>G (p.Leu416Val)
c.1620C>G
c.862C>G (p.Leu288Val)
c.1243C>G (p.Leu415Val)
c.985C>G (p.Leu329Val)
c.87C>G
c.846C>G
n.1516C>G
n.1483C>G
19g.11113542C>TCA034017LDLRc.1624C>T (p.Leu542Phe)
c.1366C>T (p.Leu456Phe)
c.1246C>T (p.Leu416Phe)
c.1620C>T
c.862C>T (p.Leu288Phe)
c.1243C>T (p.Leu415Phe)
c.985C>T (p.Leu329Phe)
c.87C>T
c.846C>T
n.1516C>T
n.1483C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113543T>ACA10585429LDLRc.1625T>A (p.Leu542His)
c.1367T>A (p.Leu456His)
c.1247T>A (p.Leu416His)
c.1621T>A
c.863T>A (p.Leu288His)
c.1244T>A (p.Leu415His)
c.986T>A (p.Leu329His)
c.88T>A
c.847T>A
n.1517T>A
n.1484T>A
 ClinVar dbSNP
19g.11113543T>CCA305300092LDLRc.1625T>C (p.Leu542Pro)
c.1367T>C (p.Leu456Pro)
c.1247T>C (p.Leu416Pro)
c.1621T>C
c.863T>C (p.Leu288Pro)
c.1244T>C (p.Leu415Pro)
c.986T>C (p.Leu329Pro)
c.88T>C
c.847T>C
n.1517T>C
n.1484T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11113543T>GCA404085589LDLRc.1625T>G (p.Leu542Arg)
c.1367T>G (p.Leu456Arg)
c.1247T>G (p.Leu416Arg)
c.1621T>G
c.863T>G (p.Leu288Arg)
c.1244T>G (p.Leu415Arg)
c.986T>G (p.Leu329Arg)
c.88T>G
c.847T>G
n.1517T>G
n.1484T>G
19g.11113543T=CA2322771880LDLRc.1625T= (p.Leu542=)
c.1367T= (p.Leu456=)
c.1247T= (p.Leu416=)
c.1621T=
c.863T= (p.Leu288=)
c.1244T= (p.Leu415=)
c.986T= (p.Leu329=)
c.88T=
c.847T=
n.1517T=
n.1484T=
19g.11113544T>ACA505743037LDLRc.1626T>A (p.Leu542=)
c.1368T>A (p.Leu456=)
c.1248T>A (p.Leu416=)
c.1622T>A
c.864T>A (p.Leu288=)
c.1245T>A (p.Leu415=)
c.987T>A (p.Leu329=)
c.89T>A
c.848T>A
n.1518T>A
n.1485T>A
 ClinVar dbSNP
19g.11113544T>CCA505743038LDLRc.1626T>C (p.Leu542=)
c.1368T>C (p.Leu456=)
c.1248T>C (p.Leu416=)
c.1622T>C
c.864T>C (p.Leu288=)
c.1245T>C (p.Leu415=)
c.987T>C (p.Leu329=)
c.89T>C
c.848T>C
n.1518T>C
n.1485T>C
19g.11113544T>GCA505743039LDLRc.1626T>G (p.Leu542=)
c.1368T>G (p.Leu456=)
c.1248T>G (p.Leu416=)
c.1622T>G
c.864T>G (p.Leu288=)
c.1245T>G (p.Leu415=)
c.987T>G (p.Leu329=)
c.89T>G
c.848T>G
n.1518T>G
n.1485T>G
19g.11113544T=CA2322771881LDLRc.1626T= (p.Leu542=)
c.1368T= (p.Leu456=)
c.1248T= (p.Leu416=)
c.1622T=
c.864T= (p.Leu288=)
c.1245T= (p.Leu415=)
c.987T= (p.Leu329=)
c.89T=
c.848T=
n.1518T=
n.1485T=
19g.11113545G>ACA404085593LDLRc.1627G>A (p.Asp543Asn)
c.1369G>A (p.Asp457Asn)
c.1249G>A (p.Asp417Asn)
c.1623G>A
c.865G>A (p.Asp289Asn)
c.1246G>A (p.Asp416Asn)
c.988G>A (p.Asp330Asn)
c.90G>A
c.849G>A
n.1519G>A
n.1486G>A
19g.11113545G>CCA404085595LDLRc.1627G>C (p.Asp543His)
c.1369G>C (p.Asp457His)
c.1249G>C (p.Asp417His)
c.1623G>C
c.865G>C (p.Asp289His)
c.1246G>C (p.Asp416His)
c.988G>C (p.Asp330His)
c.90G>C
c.849G>C
n.1519G>C
n.1486G>C
 ClinVar gnomAD v4
19g.11113545G>TCA404085596LDLRc.1627G>T (p.Asp543Tyr)
c.1369G>T (p.Asp457Tyr)
c.1249G>T (p.Asp417Tyr)
c.1623G>T
c.865G>T (p.Asp289Tyr)
c.1246G>T (p.Asp416Tyr)
c.988G>T (p.Asp330Tyr)
c.90G>T
c.849G>T
n.1519G>T
n.1486G>T
19g.11113547_11113550dupCA10576305LDLRc.1629_1632dup (p.Ala545GlnfsTer9)
c.1371_1374dup (p.Ala459GlnfsTer9)
c.1251_1254dup (p.Ala419GlnfsTer9)
c.1625_1628dup
c.867_870dup (p.Ala291GlnfsTer9)
c.1248_1251dup (p.Ala418GlnfsTer9)
c.990_993dup (p.Ala332GlnfsTer9)
c.92_95dup
c.851_854dup
n.1521_1524dup
n.1488_1491dup
 ClinVar dbSNP gnomAD v4
19g.11113546A>CCA404085598LDLRc.1628A>C (p.Asp543Ala)
c.1370A>C (p.Asp457Ala)
c.1250A>C (p.Asp417Ala)
c.1624A>C
c.866A>C (p.Asp289Ala)
c.1247A>C (p.Asp416Ala)
c.989A>C (p.Asp330Ala)
c.91A>C
c.850A>C
n.1520A>C
n.1487A>C
19g.11113546A>GCA404085600LDLRc.1628A>G (p.Asp543Gly)
c.1370A>G (p.Asp457Gly)
c.1250A>G (p.Asp417Gly)
c.1624A>G
c.866A>G (p.Asp289Gly)
c.1247A>G (p.Asp416Gly)
c.989A>G (p.Asp330Gly)
c.91A>G
c.850A>G
n.1520A>G
n.1487A>G
 ClinVar
19g.11113546A>TCA404085601LDLRc.1628A>T (p.Asp543Val)
c.1370A>T (p.Asp457Val)
c.1250A>T (p.Asp417Val)
c.1624A>T
c.866A>T (p.Asp289Val)
c.1247A>T (p.Asp416Val)
c.989A>T (p.Asp330Val)
c.91A>T
c.850A>T
n.1520A>T
n.1487A>T
19g.11113547C>ACA404085602LDLRc.1629C>A (p.Asp543Glu)
c.1371C>A (p.Asp457Glu)
c.1251C>A (p.Asp417Glu)
c.1625C>A
c.867C>A (p.Asp289Glu)
c.1248C>A (p.Asp416Glu)
c.990C>A (p.Asp330Glu)
c.92C>A
c.851C>A
n.1521C>A
n.1488C>A
19g.11113547C=CA2322771883LDLRc.1629C= (p.Asp543=)
c.1371C= (p.Asp457=)
c.1251C= (p.Asp417=)
c.1625C=
c.867C= (p.Asp289=)
c.1248C= (p.Asp416=)
c.990C= (p.Asp330=)
c.92C=
c.851C=
n.1521C=
n.1488C=
19g.11113547C>GCA404085603LDLRc.1629C>G (p.Asp543Glu)
c.1371C>G (p.Asp457Glu)
c.1251C>G (p.Asp417Glu)
c.1625C>G
c.867C>G (p.Asp289Glu)
c.1248C>G (p.Asp416Glu)
c.990C>G (p.Asp330Glu)
c.92C>G
c.851C>G
n.1521C>G
n.1488C>G
19g.11113547C>TCA505743040LDLRc.1629C>T (p.Asp543=)
c.1371C>T (p.Asp457=)
c.1251C>T (p.Asp417=)
c.1625C>T
c.867C>T (p.Asp289=)
c.1248C>T (p.Asp416=)
c.990C>T (p.Asp330=)
c.92C>T
c.851C>T
n.1521C>T
n.1488C>T
 ClinVar dbSNP gnomAD v4
19g.11113547_11113549delinsCAGCA2322771882LDLRc.1629_1631delinsCAG (p.Asp543=)
c.1371_1373delinsCAG (p.Asp457=)
c.1251_1253delinsCAG (p.Asp417=)
c.1625_1627delinsCAG
c.867_869delinsCAG (p.Asp289=)
c.1248_1250delinsCAG (p.Asp416=)
c.990_992delinsCAG (p.Asp330=)
c.92_94delinsCAG
c.851_853delinsCAG
n.1521_1523delinsCAG
n.1488_1490delinsCAG
19g.11113548A=CA2322771885LDLRc.1630A= (p.Arg544=)
c.1372A= (p.Arg458=)
c.1252A= (p.Arg418=)
c.1626A=
c.868A= (p.Arg290=)
c.1249A= (p.Arg417=)
c.991A= (p.Arg331=)
c.93A=
c.852A=
n.1522A=
n.1489A=
19g.11113548A>CCA505743041LDLRc.1630A>C (p.Arg544=)
c.1372A>C (p.Arg458=)
c.1252A>C (p.Arg418=)
c.1626A>C
c.868A>C (p.Arg290=)
c.1249A>C (p.Arg417=)
c.991A>C (p.Arg331=)
c.93A>C
c.852A>C
n.1522A>C
n.1489A>C
19g.11113548A>GCA404085605LDLRc.1630A>G (p.Arg544Gly)
c.1372A>G (p.Arg458Gly)
c.1252A>G (p.Arg418Gly)
c.1626A>G
c.868A>G (p.Arg290Gly)
c.1249A>G (p.Arg417Gly)
c.991A>G (p.Arg331Gly)
c.93A>G
c.852A>G
n.1522A>G
n.1489A>G
 dbSNP gnomAD v3 gnomAD v4
19g.11113548A>TCA404085607LDLRc.1630A>T (p.Arg544Ter)
c.1372A>T (p.Arg458Ter)
c.1252A>T (p.Arg418Ter)
c.1626A>T
c.868A>T (p.Arg290Ter)
c.1249A>T (p.Arg417Ter)
c.991A>T (p.Arg331Ter)
c.93A>T
c.852A>T
n.1522A>T
n.1489A>T
19g.11113548dupCA2497030063LDLRc.1630dup (p.Arg544LysfsTer9)
c.1372dup (p.Arg458LysfsTer9)
c.1252dup (p.Arg418LysfsTer9)
c.1626dup
c.868dup (p.Arg290LysfsTer9)
c.1249dup (p.Arg417LysfsTer9)
c.991dup (p.Arg331LysfsTer9)
c.93dup
c.852dup
n.1522dup
n.1489dup
19g.11113550_11113551delCA10585431LDLRc.1632_1633del (p.Arg544SerfsTer8)
c.1374_1375del (p.Arg458SerfsTer8)
c.1254_1255del (p.Arg418SerfsTer8)
c.1628_1629del
c.870_871del (p.Arg290SerfsTer8)
c.1251_1252del (p.Arg417SerfsTer8)
c.993_994del (p.Arg331SerfsTer8)
c.95_96del
c.854_855del
n.1524_1525del
n.1491_1492del
 ClinVar dbSNP
19g.11113548_11113557delinsAGAGCCCACGCA2322771884LDLRc.1630_1639delinsAGAGCCCACG (p.Arg544=)
c.1372_1381delinsAGAGCCCACG (p.Arg458=)
c.1252_1261delinsAGAGCCCACG (p.Arg418=)
c.1626_1635delinsAGAGCCCACG
c.868_877delinsAGAGCCCACG (p.Arg290=)
c.1249_1258delinsAGAGCCCACG (p.Arg417=)
c.991_1000delinsAGAGCCCACG (p.Arg331=)
c.93_102delinsAGAGCCCACG
c.852_861delinsAGAGCCCACG
n.1522_1531delinsAGAGCCCACG
n.1489_1498delinsAGAGCCCACG
19g.11113549G>ACA404085616LDLRc.1631G>A (p.Arg544Lys)
c.1373G>A (p.Arg458Lys)
c.1253G>A (p.Arg418Lys)
c.1627G>A
c.869G>A (p.Arg290Lys)
c.1250G>A (p.Arg417Lys)
c.992G>A (p.Arg331Lys)
c.94G>A
c.853G>A
n.1523G>A
n.1490G>A
19g.11113549G>CCA404085614LDLRc.1631G>C (p.Arg544Thr)
c.1373G>C (p.Arg458Thr)
c.1253G>C (p.Arg418Thr)
c.1627G>C
c.869G>C (p.Arg290Thr)
c.1250G>C (p.Arg417Thr)
c.992G>C (p.Arg331Thr)
c.94G>C
c.853G>C
n.1523G>C
n.1490G>C
19g.11113549G>TCA404085612LDLRc.1631G>T (p.Arg544Ile)
c.1373G>T (p.Arg458Ile)
c.1253G>T (p.Arg418Ile)
c.1627G>T
c.869G>T (p.Arg290Ile)
c.1250G>T (p.Arg417Ile)
c.992G>T (p.Arg331Ile)
c.94G>T
c.853G>T
n.1523G>T
n.1490G>T
19g.11113550_11113558delCA915952546LDLRc.1632_1640del (p.Arg544_Gly547delinsSer)
c.1374_1382del (p.Arg458_Gly461delinsSer)
c.1254_1262del (p.Arg418_Gly421delinsSer)
c.1628_1636del
c.870_878del (p.Arg290_Gly293delinsSer)
c.1251_1259del (p.Arg417_Gly420delinsSer)
c.993_1001del (p.Arg331_Gly334delinsSer)
c.95_103del
c.854_862del
n.1524_1532del
n.1491_1499del
 ClinVar dbSNP gnomAD v4
19g.11113550A>CCA404085624LDLRc.1632A>C (p.Arg544Ser)
c.1374A>C (p.Arg458Ser)
c.1254A>C (p.Arg418Ser)
c.1628A>C
c.870A>C (p.Arg290Ser)
c.1251A>C (p.Arg417Ser)
c.993A>C (p.Arg331Ser)
c.95A>C
c.854A>C
n.1524A>C
n.1491A>C
19g.11113550A>GCA505743042LDLRc.1632A>G (p.Arg544=)
c.1374A>G (p.Arg458=)
c.1254A>G (p.Arg418=)
c.1628A>G
c.870A>G (p.Arg290=)
c.1251A>G (p.Arg417=)
c.993A>G (p.Arg331=)
c.95A>G
c.854A>G
n.1524A>G
n.1491A>G
19g.11113550A>TCA404085625LDLRc.1632A>T (p.Arg544Ser)
c.1374A>T (p.Arg458Ser)
c.1254A>T (p.Arg418Ser)
c.1628A>T
c.870A>T (p.Arg290Ser)
c.1251A>T (p.Arg417Ser)
c.993A>T (p.Arg331Ser)
c.95A>T
c.854A>T
n.1524A>T
n.1491A>T
19g.11113551G>ACA404085630LDLRc.1633G>A (p.Ala545Thr)
c.1375G>A (p.Ala459Thr)
c.1255G>A (p.Ala419Thr)
c.1629G>A
c.871G>A (p.Ala291Thr)
c.1252G>A (p.Ala418Thr)
c.994G>A (p.Ala332Thr)
c.96G>A
c.855G>A
n.1525G>A
n.1492G>A
19g.11113551G>CCA404085633LDLRc.1633G>C (p.Ala545Pro)
c.1375G>C (p.Ala459Pro)
c.1255G>C (p.Ala419Pro)
c.1629G>C
c.871G>C (p.Ala291Pro)
c.1252G>C (p.Ala418Pro)
c.994G>C (p.Ala332Pro)
c.96G>C
c.855G>C
n.1525G>C
n.1492G>C
 gnomAD v4
19g.11113551G>TCA404085634LDLRc.1633G>T (p.Ala545Ser)
c.1375G>T (p.Ala459Ser)
c.1255G>T (p.Ala419Ser)
c.1629G>T
c.871G>T (p.Ala291Ser)
c.1252G>T (p.Ala418Ser)
c.994G>T (p.Ala332Ser)
c.96G>T
c.855G>T
n.1525G>T
n.1492G>T
 gnomAD v4
19g.11113551_11113555delinsGCCCACA2322771886LDLRc.1633_1637delinsGCCCA (p.Ala545=)
c.1375_1379delinsGCCCA (p.Ala459=)
c.1255_1259delinsGCCCA (p.Ala419=)
c.1629_1633delinsGCCCA
c.871_875delinsGCCCA (p.Ala291=)
c.1252_1256delinsGCCCA (p.Ala418=)
c.994_998delinsGCCCA (p.Ala332=)
c.96_100delinsGCCCA
c.855_859delinsGCCCA
n.1525_1529delinsGCCCA
n.1492_1496delinsGCCCA
19g.11113552C>ACA404085635LDLRc.1634C>A (p.Ala545Asp)
c.1376C>A (p.Ala459Asp)
c.1256C>A (p.Ala419Asp)
c.1630C>A
c.872C>A (p.Ala291Asp)
c.1253C>A (p.Ala418Asp)
c.995C>A (p.Ala332Asp)
c.97C>A
c.856C>A
n.1526C>A
n.1493C>A
19g.11113552C=CA2322771887LDLRc.1634C= (p.Ala545=)
c.1376C= (p.Ala459=)
c.1256C= (p.Ala419=)
c.1630C=
c.872C= (p.Ala291=)
c.1253C= (p.Ala418=)
c.995C= (p.Ala332=)
c.97C=
c.856C=
n.1526C=
n.1493C=
19g.11113552C>GCA10585432LDLRc.1634C>G (p.Ala545Gly)
c.1376C>G (p.Ala459Gly)
c.1256C>G (p.Ala419Gly)
c.1630C>G
c.872C>G (p.Ala291Gly)
c.1253C>G (p.Ala418Gly)
c.995C>G (p.Ala332Gly)
c.97C>G
c.856C>G
n.1526C>G
n.1493C>G
 ClinVar dbSNP gnomAD v4
19g.11113552C>TCA404085637LDLRc.1634C>T (p.Ala545Val)
c.1376C>T (p.Ala459Val)
c.1256C>T (p.Ala419Val)
c.1630C>T
c.872C>T (p.Ala291Val)
c.1253C>T (p.Ala418Val)
c.995C>T (p.Ala332Val)
c.97C>T
c.856C>T
n.1526C>T
n.1493C>T
19g.11113553_11113556delCA10585433LDLRc.1635_1638del (p.His546AlafsTer?)
c.1377_1380del (p.His460AlafsTer?)
c.1257_1260del (p.His420AlafsTer?)
c.1631_1634del
c.873_876del (p.His292AlafsTer?)
c.1254_1257del (p.His419AlafsTer?)
c.996_999del (p.His333AlafsTer?)
c.98_101del
c.857_860del
n.1527_1530del
n.1494_1497del
 ClinVar dbSNP
19g.11113553C>ACA505743043LDLRc.1635C>A (p.Ala545=)
c.1377C>A (p.Ala459=)
c.1257C>A (p.Ala419=)
c.1631C>A
c.873C>A (p.Ala291=)
c.1254C>A (p.Ala418=)
c.996C>A (p.Ala332=)
c.98C>A
c.857C>A
n.1527C>A
n.1494C>A
19g.11113553C=CA2322771888LDLRc.1635C= (p.Ala545=)
c.1377C= (p.Ala459=)
c.1257C= (p.Ala419=)
c.1631C=
c.873C= (p.Ala291=)
c.1254C= (p.Ala418=)
c.996C= (p.Ala332=)
c.98C=
c.857C=
n.1527C=
n.1494C=
19g.11113553C>GCA505743044LDLRc.1635C>G (p.Ala545=)
c.1377C>G (p.Ala459=)
c.1257C>G (p.Ala419=)
c.1631C>G
c.873C>G (p.Ala291=)
c.1254C>G (p.Ala418=)
c.996C>G (p.Ala332=)
c.98C>G
c.857C>G
n.1527C>G
n.1494C>G
 ClinVar dbSNP
19g.11113553C>TCA505743045LDLRc.1635C>T (p.Ala545=)
c.1377C>T (p.Ala459=)
c.1257C>T (p.Ala419=)
c.1631C>T
c.873C>T (p.Ala291=)
c.1254C>T (p.Ala418=)
c.996C>T (p.Ala332=)
c.98C>T
c.857C>T
n.1527C>T
n.1494C>T
 ClinVar
19g.11113554C>ACA404085646LDLRc.1636C>A (p.His546Asn)
c.1378C>A (p.His460Asn)
c.1258C>A (p.His420Asn)
c.1632C>A
c.874C>A (p.His292Asn)
c.1255C>A (p.His419Asn)
c.997C>A (p.His333Asn)
c.99C>A
c.858C>A
n.1528C>A
n.1495C>A
19g.11113554C>GCA404085648LDLRc.1636C>G (p.His546Asp)
c.1378C>G (p.His460Asp)
c.1258C>G (p.His420Asp)
c.1632C>G
c.874C>G (p.His292Asp)
c.1255C>G (p.His419Asp)
c.997C>G (p.His333Asp)
c.99C>G
c.858C>G
n.1528C>G
n.1495C>G
19g.11113554C>TCA404085649LDLRc.1636C>T (p.His546Tyr)
c.1378C>T (p.His460Tyr)
c.1258C>T (p.His420Tyr)
c.1632C>T
c.874C>T (p.His292Tyr)
c.1255C>T (p.His419Tyr)
c.997C>T (p.His333Tyr)
c.99C>T
c.858C>T
n.1528C>T
n.1495C>T
19g.11113554_11113570delinsCACGGCGTCTCTTCCTACA2322771891LDLRc.1636_1652delinsCACGGCGTCTCTTCCTA (p.His546=)
c.1378_1394delinsCACGGCGTCTCTTCCTA (p.His460=)
c.1258_1274delinsCACGGCGTCTCTTCCTA (p.His420=)
c.1632_1648delinsCACGGCGTCTCTTCCTA
c.874_890delinsCACGGCGTCTCTTCCTA (p.His292=)
c.1255_1271delinsCACGGCGTCTCTTCCTA (p.His419=)
c.997_1013delinsCACGGCGTCTCTTCCTA (p.His333=)
c.99_115delinsCACGGCGTCTCTTCCTA
c.858_874delinsCACGGCGTCTCTTCCTA
n.1528_1544delinsCACGGCGTCTCTTCCTA
n.1495_1511delinsCACGGCGTCTCTTCCTA
19g.11113554_11113572delinsCACGGCGTCTCTTCCTATGCA2322771889LDLRc.1636_1654delinsCACGGCGTCTCTTCCTATG (p.His546=)
c.1378_1396delinsCACGGCGTCTCTTCCTATG (p.His460=)
c.1258_1276delinsCACGGCGTCTCTTCCTATG (p.His420=)
c.1632_1650delinsCACGGCGTCTCTTCCTATG
c.874_892delinsCACGGCGTCTCTTCCTATG (p.His292=)
c.1255_1273delinsCACGGCGTCTCTTCCTATG (p.His419=)
c.997_1015delinsCACGGCGTCTCTTCCTATG (p.His333=)
c.99_117delinsCACGGCGTCTCTTCCTATG
c.858_876delinsCACGGCGTCTCTTCCTATG
n.1528_1546delinsCACGGCGTCTCTTCCTATG
n.1495_1513delinsCACGGCGTCTCTTCCTATG
19g.11113554_11113578delinsCACGGCGTCTCTTCCTATGACACCGCA2322771890LDLRc.1636_1660delinsCACGGCGTCTCTTCCTATGACACCG (p.His546=)
c.1378_1402delinsCACGGCGTCTCTTCCTATGACACCG (p.His460=)
c.1258_1282delinsCACGGCGTCTCTTCCTATGACACCG (p.His420=)
c.1632_1656delinsCACGGCGTCTCTTCCTATGACACCG
c.874_898delinsCACGGCGTCTCTTCCTATGACACCG (p.His292=)
c.1255_1279delinsCACGGCGTCTCTTCCTATGACACCG (p.His419=)
c.997_1021delinsCACGGCGTCTCTTCCTATGACACCG (p.His333=)
c.99_123delinsCACGGCGTCTCTTCCTATGACACCG
c.858_882delinsCACGGCGTCTCTTCCTATGACACCG
n.1528_1552delinsCACGGCGTCTCTTCCTATGACACCG
n.1495_1519delinsCACGGCGTCTCTTCCTATGACACCG
19g.11113555delCA2695228176LDLRc.1637del (p.His546ProfsTer?)
c.1379del (p.His460ProfsTer?)
c.1259del (p.His420ProfsTer?)
c.1633del
c.875del (p.His292ProfsTer?)
c.1256del (p.His419ProfsTer?)
c.998del (p.His333ProfsTer?)
c.100del
c.859del
n.1529del
n.1496del
19g.11113555A>CCA404085661LDLRc.1637A>C (p.His546Pro)
c.1379A>C (p.His460Pro)
c.1259A>C (p.His420Pro)
c.1633A>C
c.875A>C (p.His292Pro)
c.1256A>C (p.His419Pro)
c.998A>C (p.His333Pro)
c.100A>C
c.859A>C
n.1529A>C
n.1496A>C
19g.11113555A>GCA404085660LDLRc.1637A>G (p.His546Arg)
c.1379A>G (p.His460Arg)
c.1259A>G (p.His420Arg)
c.1633A>G
c.875A>G (p.His292Arg)
c.1256A>G (p.His419Arg)
c.998A>G (p.His333Arg)
c.100A>G
c.859A>G
n.1529A>G
n.1496A>G
19g.11113555A>TCA404085654LDLRc.1637A>T (p.His546Leu)
c.1379A>T (p.His460Leu)
c.1259A>T (p.His420Leu)
c.1633A>T
c.875A>T (p.His292Leu)
c.1256A>T (p.His419Leu)
c.998A>T (p.His333Leu)
c.100A>T
c.859A>T
n.1529A>T
n.1496A>T
19g.11113555_11113570delinsCAGCTCA645509278LDLRc.1637_1652delinsCAGCT (p.His546ProfsTer3)
c.1379_1394delinsCAGCT (p.His460ProfsTer3)
c.1259_1274delinsCAGCT (p.His420ProfsTer3)
c.1633_1648delinsCAGCT
c.875_890delinsCAGCT (p.His292ProfsTer3)
c.1256_1271delinsCAGCT (p.His419ProfsTer3)
c.998_1013delinsCAGCT (p.His333ProfsTer3)
c.100_115delinsCAGCT
c.859_874delinsCAGCT
n.1529_1544delinsCAGCT
n.1496_1511delinsCAGCT
 ClinVar dbSNP
19g.11113555_11113572delinsCAGCTTACA10585434LDLRc.1637_1654delinsCAGCTTA (p.His546ProfsTer3)
c.1379_1396delinsCAGCTTA (p.His460ProfsTer3)
c.1259_1276delinsCAGCTTA (p.His420ProfsTer3)
c.1633_1650delinsCAGCTTA
c.875_892delinsCAGCTTA (p.His292ProfsTer3)
c.1256_1273delinsCAGCTTA (p.His419ProfsTer3)
c.998_1015delinsCAGCTTA (p.His333ProfsTer3)
c.100_117delinsCAGCTTA
c.859_876delinsCAGCTTA
n.1529_1546delinsCAGCTTA
n.1496_1513delinsCAGCTTA
 ClinVar dbSNP
19g.11113555_11113578delinsCAGCTTGACCCGCCA10585435LDLRc.1637_1660delinsCAGCTTGACCCGC (p.His546ProfsTer3)
c.1379_1402delinsCAGCTTGACCCGC (p.His460ProfsTer3)
c.1259_1282delinsCAGCTTGACCCGC (p.His420ProfsTer3)
c.1633_1656delinsCAGCTTGACCCGC
c.875_898delinsCAGCTTGACCCGC (p.His292ProfsTer3)
c.1256_1279delinsCAGCTTGACCCGC (p.His419ProfsTer3)
c.998_1021delinsCAGCTTGACCCGC (p.His333ProfsTer3)
c.100_123delinsCAGCTTGACCCGC
c.859_882delinsCAGCTTGACCCGC
n.1529_1552delinsCAGCTTGACCCGC
n.1496_1519delinsCAGCTTGACCCGC
 ClinVar dbSNP
19g.11113556C>ACA404085664LDLRc.1638C>A (p.His546Gln)
c.1380C>A (p.His460Gln)
c.1260C>A (p.His420Gln)
c.1634C>A
c.876C>A (p.His292Gln)
c.1257C>A (p.His419Gln)
c.999C>A (p.His333Gln)
c.101C>A
c.860C>A
n.1530C>A
n.1497C>A
19g.11113556C=CA2322771893LDLRc.1638C= (p.His546=)
c.1380C= (p.His460=)
c.1260C= (p.His420=)
c.1634C=
c.876C= (p.His292=)
c.1257C= (p.His419=)
c.999C= (p.His333=)
c.101C=
c.860C=
n.1530C=
n.1497C=
19g.11113556C>GCA404085667LDLRc.1638C>G (p.His546Gln)
c.1380C>G (p.His460Gln)
c.1260C>G (p.His420Gln)
c.1634C>G
c.876C>G (p.His292Gln)
c.1257C>G (p.His419Gln)
c.999C>G (p.His333Gln)
c.101C>G
c.860C>G
n.1530C>G
n.1497C>G
19g.11113556C>TCA034038LDLRc.1638C>T (p.His546=)
c.1380C>T (p.His460=)
c.1260C>T (p.His420=)
c.1634C>T
c.876C>T (p.His292=)
c.1257C>T (p.His419=)
c.999C>T (p.His333=)
c.101C>T
c.860C>T
n.1530C>T
n.1497C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113556_11113557delinsCGCA2322771892LDLRc.1638_1639delinsCG (p.His546=)
c.1380_1381delinsCG (p.His460=)
c.1260_1261delinsCG (p.His420=)
c.1634_1635delinsCG
c.876_877delinsCG (p.His292=)
c.1257_1258delinsCG (p.His419=)
c.999_1000delinsCG (p.His333=)
c.101_102delinsCG
c.860_861delinsCG
n.1530_1531delinsCG
n.1497_1498delinsCG
19g.11113557G>ACA023472LDLRc.1639G>A (p.Gly547Ser)
c.1381G>A (p.Gly461Ser)
c.1261G>A (p.Gly421Ser)
c.1635G>A
c.877G>A (p.Gly293Ser)
c.1258G>A (p.Gly420Ser)
c.1000G>A (p.Gly334Ser)
c.102G>A
c.861G>A
n.1531G>A
n.1498G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113557G>CCA404085686LDLRc.1639G>C (p.Gly547Arg)
c.1381G>C (p.Gly461Arg)
c.1261G>C (p.Gly421Arg)
c.1635G>C
c.877G>C (p.Gly293Arg)
c.1258G>C (p.Gly420Arg)
c.1000G>C (p.Gly334Arg)
c.102G>C
c.861G>C
n.1531G>C
n.1498G>C
19g.11113557G=CA2322771894LDLRc.1639G= (p.Gly547=)
c.1381G= (p.Gly461=)
c.1261G= (p.Gly421=)
c.1635G=
c.877G= (p.Gly293=)
c.1258G= (p.Gly420=)
c.1000G= (p.Gly334=)
c.102G=
c.861G=
n.1531G=
n.1498G=
19g.11113557G>TCA023475LDLRc.1639G>T (p.Gly547Cys)
c.1381G>T (p.Gly461Cys)
c.1261G>T (p.Gly421Cys)
c.1635G>T
c.877G>T (p.Gly293Cys)
c.1258G>T (p.Gly420Cys)
c.1000G>T (p.Gly334Cys)
c.102G>T
c.861G>T
n.1531G>T
n.1498G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113558delCA915952547LDLRc.1640del (p.Gly547AlafsTer?)
c.1382del (p.Gly461AlafsTer?)
c.1262del (p.Gly421AlafsTer?)
c.1636del
c.878del (p.Gly293AlafsTer?)
c.1259del (p.Gly420AlafsTer?)
c.1001del (p.Gly334AlafsTer?)
c.103del
c.862del
n.1532del
n.1499del
 ClinVar dbSNP gnomAD v4
19g.11113558G>ACA404085691LDLRc.1640G>A (p.Gly547Asp)
c.1382G>A (p.Gly461Asp)
c.1262G>A (p.Gly421Asp)
c.1636G>A
c.878G>A (p.Gly293Asp)
c.1259G>A (p.Gly420Asp)
c.1001G>A (p.Gly334Asp)
c.103G>A
c.862G>A
n.1532G>A
n.1499G>A
19g.11113558G>CCA404085693LDLRc.1640G>C (p.Gly547Ala)
c.1382G>C (p.Gly461Ala)
c.1262G>C (p.Gly421Ala)
c.1636G>C
c.878G>C (p.Gly293Ala)
c.1259G>C (p.Gly420Ala)
c.1001G>C (p.Gly334Ala)
c.103G>C
c.862G>C
n.1532G>C
n.1499G>C
19g.11113558G>TCA404085695LDLRc.1640G>T (p.Gly547Val)
c.1382G>T (p.Gly461Val)
c.1262G>T (p.Gly421Val)
c.1636G>T
c.878G>T (p.Gly293Val)
c.1259G>T (p.Gly420Val)
c.1001G>T (p.Gly334Val)
c.103G>T
c.862G>T
n.1532G>T
n.1499G>T
 gnomAD v4
19g.11113559C>ACA505743047LDLRc.1641C>A (p.Gly547=)
c.1383C>A (p.Gly461=)
c.1263C>A (p.Gly421=)
c.1637C>A
c.879C>A (p.Gly293=)
c.1260C>A (p.Gly420=)
c.1002C>A (p.Gly334=)
c.104C>A
c.863C>A
n.1533C>A
n.1500C>A
 gnomAD v4
19g.11113559C=CA2322771895LDLRc.1641C= (p.Gly547=)
c.1383C= (p.Gly461=)
c.1263C= (p.Gly421=)
c.1637C=
c.879C= (p.Gly293=)
c.1260C= (p.Gly420=)
c.1002C= (p.Gly334=)
c.104C=
c.863C=
n.1533C=
n.1500C=
19g.11113559C>GCA505743046LDLRc.1641C>G (p.Gly547=)
c.1383C>G (p.Gly461=)
c.1263C>G (p.Gly421=)
c.1637C>G
c.879C>G (p.Gly293=)
c.1260C>G (p.Gly420=)
c.1002C>G (p.Gly334=)
c.104C>G
c.863C>G
n.1533C>G
n.1500C>G
19g.11113559C>TCA034080LDLRc.1641C>T (p.Gly547=)
c.1383C>T (p.Gly461=)
c.1263C>T (p.Gly421=)
c.1637C>T
c.879C>T (p.Gly293=)
c.1260C>T (p.Gly420=)
c.1002C>T (p.Gly334=)
c.104C>T
c.863C>T
n.1533C>T
n.1500C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11113560delCA2739291177LDLRc.1642del (p.Val548SerfsTer?)
c.1384del (p.Val462SerfsTer?)
c.1264del (p.Val422SerfsTer?)
c.1638del
c.880del (p.Val294SerfsTer?)
c.1261del (p.Val421SerfsTer?)
c.1003del (p.Val335SerfsTer?)
c.105del
c.864del
n.1534del
n.1501del
19g.11113560G>ACA034098LDLRc.1642G>A (p.Val548Ile)
c.1384G>A (p.Val462Ile)
c.1264G>A (p.Val422Ile)
c.1638G>A
c.880G>A (p.Val294Ile)
c.1261G>A (p.Val421Ile)
c.1003G>A (p.Val335Ile)
c.105G>A
c.864G>A
n.1534G>A
n.1501G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113560G>CCA404085700LDLRc.1642G>C (p.Val548Leu)
c.1384G>C (p.Val462Leu)
c.1264G>C (p.Val422Leu)
c.1638G>C
c.880G>C (p.Val294Leu)
c.1261G>C (p.Val421Leu)
c.1003G>C (p.Val335Leu)
c.105G>C
c.864G>C
n.1534G>C
n.1501G>C
19g.11113560G=CA2322771896LDLRc.1642G= (p.Val548=)
c.1384G= (p.Val462=)
c.1264G= (p.Val422=)
c.1638G=
c.880G= (p.Val294=)
c.1261G= (p.Val421=)
c.1003G= (p.Val335=)
c.105G=
c.864G=
n.1534G=
n.1501G=
19g.11113560G>TCA404085698LDLRc.1642G>T (p.Val548Phe)
c.1384G>T (p.Val462Phe)
c.1264G>T (p.Val422Phe)
c.1638G>T
c.880G>T (p.Val294Phe)
c.1261G>T (p.Val421Phe)
c.1003G>T (p.Val335Phe)
c.105G>T
c.864G>T
n.1534G>T
n.1501G>T
19g.11113561T>ACA404085703LDLRc.1643T>A (p.Val548Asp)
c.1385T>A (p.Val462Asp)
c.1265T>A (p.Val422Asp)
c.1639T>A
c.881T>A (p.Val294Asp)
c.1262T>A (p.Val421Asp)
c.1004T>A (p.Val335Asp)
c.106T>A
c.865T>A
n.1535T>A
n.1502T>A
19g.11113561T>CCA404085705LDLRc.1643T>C (p.Val548Ala)
c.1385T>C (p.Val462Ala)
c.1265T>C (p.Val422Ala)
c.1639T>C
c.881T>C (p.Val294Ala)
c.1262T>C (p.Val421Ala)
c.1004T>C (p.Val335Ala)
c.106T>C
c.865T>C
n.1535T>C
n.1502T>C
19g.11113561T>GCA404085710LDLRc.1643T>G (p.Val548Gly)
c.1385T>G (p.Val462Gly)
c.1265T>G (p.Val422Gly)
c.1639T>G
c.881T>G (p.Val294Gly)
c.1262T>G (p.Val421Gly)
c.1004T>G (p.Val335Gly)
c.106T>G
c.865T>G
n.1535T>G
n.1502T>G
19g.11113562C>ACA505743050LDLRc.1644C>A (p.Val548=)
c.1386C>A (p.Val462=)
c.1266C>A (p.Val422=)
c.1640C>A
c.882C>A (p.Val294=)
c.1263C>A (p.Val421=)
c.1005C>A (p.Val335=)
c.107C>A
c.866C>A
n.1536C>A
n.1503C>A
19g.11113562C>GCA505743053LDLRc.1644C>G (p.Val548=)
c.1386C>G (p.Val462=)
c.1266C>G (p.Val422=)
c.1640C>G
c.882C>G (p.Val294=)
c.1263C>G (p.Val421=)
c.1005C>G (p.Val335=)
c.107C>G
c.866C>G
n.1536C>G
n.1503C>G
19g.11113562C>TCA505743051LDLRc.1644C>T (p.Val548=)
c.1386C>T (p.Val462=)
c.1266C>T (p.Val422=)
c.1640C>T
c.882C>T (p.Val294=)
c.1263C>T (p.Val421=)
c.1005C>T (p.Val335=)
c.107C>T
c.866C>T
n.1536C>T
n.1503C>T
19g.11113563delCA2695228177LDLRc.1645del (p.Ser549LeufsTer?)
c.1387del (p.Ser463LeufsTer?)
c.1267del (p.Ser423LeufsTer?)
c.1641del
c.883del (p.Ser295LeufsTer?)
c.1264del (p.Ser422LeufsTer?)
c.1006del (p.Ser336LeufsTer?)
c.108del
c.867del
n.1537del
n.1504del
19g.11113563T>ACA404085712LDLRc.1645T>A (p.Ser549Thr)
c.1387T>A (p.Ser463Thr)
c.1267T>A (p.Ser423Thr)
c.1641T>A
c.883T>A (p.Ser295Thr)
c.1264T>A (p.Ser422Thr)
c.1006T>A (p.Ser336Thr)
c.108T>A
c.867T>A
n.1537T>A
n.1504T>A
19g.11113563T>CCA404085713LDLRc.1645T>C (p.Ser549Pro)
c.1387T>C (p.Ser463Pro)
c.1267T>C (p.Ser423Pro)
c.1641T>C
c.883T>C (p.Ser295Pro)
c.1264T>C (p.Ser422Pro)
c.1006T>C (p.Ser336Pro)
c.108T>C
c.867T>C
n.1537T>C
n.1504T>C
19g.11113563T>GCA404085714LDLRc.1645T>G (p.Ser549Ala)
c.1387T>G (p.Ser463Ala)
c.1267T>G (p.Ser423Ala)
c.1641T>G
c.883T>G (p.Ser295Ala)
c.1264T>G (p.Ser422Ala)
c.1006T>G (p.Ser336Ala)
c.108T>G
c.867T>G
n.1537T>G
n.1504T>G
19g.11113564C>ACA404085716LDLRc.1646C>A (p.Ser549Tyr)
c.1388C>A (p.Ser463Tyr)
c.1268C>A (p.Ser423Tyr)
c.1642C>A
c.884C>A (p.Ser295Tyr)
c.1265C>A (p.Ser422Tyr)
c.1007C>A (p.Ser336Tyr)
c.109C>A
c.868C>A
n.1538C>A
n.1505C>A
19g.11113564C>GCA404085718LDLRc.1646C>G (p.Ser549Cys)
c.1388C>G (p.Ser463Cys)
c.1268C>G (p.Ser423Cys)
c.1642C>G
c.884C>G (p.Ser295Cys)
c.1265C>G (p.Ser422Cys)
c.1007C>G (p.Ser336Cys)
c.109C>G
c.868C>G
n.1538C>G
n.1505C>G
19g.11113564C>TCA404085720LDLRc.1646C>T (p.Ser549Phe)
c.1388C>T (p.Ser463Phe)
c.1268C>T (p.Ser423Phe)
c.1642C>T
c.884C>T (p.Ser295Phe)
c.1265C>T (p.Ser422Phe)
c.1007C>T (p.Ser336Phe)
c.109C>T
c.868C>T
n.1538C>T
n.1505C>T
 COSMIC
19g.11113565T>ACA505743054LDLRc.1647T>A (p.Ser549=)
c.1389T>A (p.Ser463=)
c.1269T>A (p.Ser423=)
c.1643T>A
c.885T>A (p.Ser295=)
c.1266T>A (p.Ser422=)
c.1008T>A (p.Ser336=)
c.110T>A
c.869T>A
n.1539T>A
n.1506T>A
19g.11113565T>CCA505743055LDLRc.1647T>C (p.Ser549=)
c.1389T>C (p.Ser463=)
c.1269T>C (p.Ser423=)
c.1643T>C
c.885T>C (p.Ser295=)
c.1266T>C (p.Ser422=)
c.1008T>C (p.Ser336=)
c.110T>C
c.869T>C
n.1539T>C
n.1506T>C
19g.11113565T>GCA505743056LDLRc.1647T>G (p.Ser549=)
c.1389T>G (p.Ser463=)
c.1269T>G (p.Ser423=)
c.1643T>G
c.885T>G (p.Ser295=)
c.1266T>G (p.Ser422=)
c.1008T>G (p.Ser336=)
c.110T>G
c.869T>G
n.1539T>G
n.1506T>G
19g.11113566T>ACA404085721LDLRc.1648T>A (p.Ser550Thr)
c.1390T>A (p.Ser464Thr)
c.1270T>A (p.Ser424Thr)
c.1644T>A
c.886T>A (p.Ser296Thr)
c.1267T>A (p.Ser423Thr)
c.1009T>A (p.Ser337Thr)
c.111T>A
c.870T>A
n.1540T>A
n.1507T>A
19g.11113566T>CCA404085723LDLRc.1648T>C (p.Ser550Pro)
c.1390T>C (p.Ser464Pro)
c.1270T>C (p.Ser424Pro)
c.1644T>C
c.886T>C (p.Ser296Pro)
c.1267T>C (p.Ser423Pro)
c.1009T>C (p.Ser337Pro)
c.111T>C
c.870T>C
n.1540T>C
n.1507T>C
19g.11113566T>GCA404085724LDLRc.1648T>G (p.Ser550Ala)
c.1390T>G (p.Ser464Ala)
c.1270T>G (p.Ser424Ala)
c.1644T>G
c.886T>G (p.Ser296Ala)
c.1267T>G (p.Ser423Ala)
c.1009T>G (p.Ser337Ala)
c.111T>G
c.870T>G
n.1540T>G
n.1507T>G
19g.11113566_11113567delinsTCCA2322771897LDLRc.1648_1649delinsTC (p.Ser550=)
c.1390_1391delinsTC (p.Ser464=)
c.1270_1271delinsTC (p.Ser424=)
c.1644_1645delinsTC
c.886_887delinsTC (p.Ser296=)
c.1267_1268delinsTC (p.Ser423=)
c.1009_1010delinsTC (p.Ser337=)
c.111_112delinsTC
c.870_871delinsTC
n.1540_1541delinsTC
n.1507_1508delinsTC
19g.11113567C>ACA404085729LDLRc.1649C>A (p.Ser550Tyr)
c.1391C>A (p.Ser464Tyr)
c.1271C>A (p.Ser424Tyr)
c.1645C>A
c.887C>A (p.Ser296Tyr)
c.1268C>A (p.Ser423Tyr)
c.1010C>A (p.Ser337Tyr)
c.112C>A
c.871C>A
n.1541C>A
n.1508C>A
 gnomAD v4
19g.11113567C>GCA404085727LDLRc.1649C>G (p.Ser550Cys)
c.1391C>G (p.Ser464Cys)
c.1271C>G (p.Ser424Cys)
c.1645C>G
c.887C>G (p.Ser296Cys)
c.1268C>G (p.Ser423Cys)
c.1010C>G (p.Ser337Cys)
c.112C>G
c.871C>G
n.1541C>G
n.1508C>G
19g.11113567C>TCA404085726LDLRc.1649C>T (p.Ser550Phe)
c.1391C>T (p.Ser464Phe)
c.1271C>T (p.Ser424Phe)
c.1645C>T
c.887C>T (p.Ser296Phe)
c.1268C>T (p.Ser423Phe)
c.1010C>T (p.Ser337Phe)
c.112C>T
c.871C>T
n.1541C>T
n.1508C>T
19g.11113568delCA10585436LDLRc.1650del (p.Tyr551MetfsTer?)
c.1392del (p.Tyr465MetfsTer?)
c.1272del (p.Tyr425MetfsTer?)
c.1646del
c.888del (p.Tyr297MetfsTer?)
c.1269del (p.Tyr424MetfsTer?)
c.1011del (p.Tyr338MetfsTer?)
c.113del
c.872del
n.1542del
n.1509del
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11113568C>ACA505743060LDLRc.1650C>A (p.Ser550=)
c.1392C>A (p.Ser464=)
c.1272C>A (p.Ser424=)
c.1646C>A
c.888C>A (p.Ser296=)
c.1269C>A (p.Ser423=)
c.1011C>A (p.Ser337=)
c.113C>A
c.872C>A
n.1542C>A
n.1509C>A
19g.11113568C=CA2322771898LDLRc.1650C= (p.Ser550=)
c.1392C= (p.Ser464=)
c.1272C= (p.Ser424=)
c.1646C=
c.888C= (p.Ser296=)
c.1269C= (p.Ser423=)
c.1011C= (p.Ser337=)
c.113C=
c.872C=
n.1542C=
n.1509C=
19g.11113568C>GCA505743061LDLRc.1650C>G (p.Ser550=)
c.1392C>G (p.Ser464=)
c.1272C>G (p.Ser424=)
c.1646C>G
c.888C>G (p.Ser296=)
c.1269C>G (p.Ser423=)
c.1011C>G (p.Ser337=)
c.113C>G
c.872C>G
n.1542C>G
n.1509C>G
19g.11113568C>TCA034116LDLRc.1650C>T (p.Ser550=)
c.1392C>T (p.Ser464=)
c.1272C>T (p.Ser424=)
c.1646C>T
c.888C>T (p.Ser296=)
c.1269C>T (p.Ser423=)
c.1011C>T (p.Ser337=)
c.113C>T
c.872C>T
n.1542C>T
n.1509C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113568_11113569delinsCTCA2322771899LDLRc.1650_1651delinsCT (p.Ser550=)
c.1392_1393delinsCT (p.Ser464=)
c.1272_1273delinsCT (p.Ser424=)
c.1646_1647delinsCT
c.888_889delinsCT (p.Ser296=)
c.1269_1270delinsCT (p.Ser423=)
c.1011_1012delinsCT (p.Ser337=)
c.113_114delinsCT
c.872_873delinsCT
n.1542_1543delinsCT
n.1509_1510delinsCT
19g.11113569delCA645509279LDLRc.1651del (p.Tyr551MetfsTer?)
c.1393del (p.Tyr465MetfsTer?)
c.1273del (p.Tyr425MetfsTer?)
c.1647del
c.889del (p.Tyr297MetfsTer?)
c.1270del (p.Tyr424MetfsTer?)
c.1012del (p.Tyr338MetfsTer?)
c.114del
c.873del
n.1543del
n.1510del
 ClinVar dbSNP
19g.11113569T>ACA023482LDLRc.1651T>A (p.Tyr551Asn)
c.1393T>A (p.Tyr465Asn)
c.1273T>A (p.Tyr425Asn)
c.1647T>A
c.889T>A (p.Tyr297Asn)
c.1270T>A (p.Tyr424Asn)
c.1012T>A (p.Tyr338Asn)
c.114T>A
c.873T>A
n.1543T>A
n.1510T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113569T>CCA404085732LDLRc.1651T>C (p.Tyr551His)
c.1393T>C (p.Tyr465His)
c.1273T>C (p.Tyr425His)
c.1647T>C
c.889T>C (p.Tyr297His)
c.1270T>C (p.Tyr424His)
c.1012T>C (p.Tyr338His)
c.114T>C
c.873T>C
n.1543T>C
n.1510T>C
19g.11113569T>GCA404085734LDLRc.1651T>G (p.Tyr551Asp)
c.1393T>G (p.Tyr465Asp)
c.1273T>G (p.Tyr425Asp)
c.1647T>G
c.889T>G (p.Tyr297Asp)
c.1270T>G (p.Tyr424Asp)
c.1012T>G (p.Tyr338Asp)
c.114T>G
c.873T>G
n.1543T>G
n.1510T>G
19g.11113569T=CA2322771900LDLRc.1651T= (p.Tyr551=)
c.1393T= (p.Tyr465=)
c.1273T= (p.Tyr425=)
c.1647T=
c.889T= (p.Tyr297=)
c.1270T= (p.Tyr424=)
c.1012T= (p.Tyr338=)
c.114T=
c.873T=
n.1543T=
n.1510T=
19g.11113570A=CA2322771901LDLRc.1652A= (p.Tyr551=)
c.1394A= (p.Tyr465=)
c.1274A= (p.Tyr425=)
c.1648A=
c.890A= (p.Tyr297=)
c.1271A= (p.Tyr424=)
c.1013A= (p.Tyr338=)
c.115A=
c.874A=
n.1544A=
n.1511A=
19g.11113570A>CCA404085737LDLRc.1652A>C (p.Tyr551Ser)
c.1394A>C (p.Tyr465Ser)
c.1274A>C (p.Tyr425Ser)
c.1648A>C
c.890A>C (p.Tyr297Ser)
c.1271A>C (p.Tyr424Ser)
c.1013A>C (p.Tyr338Ser)
c.115A>C
c.874A>C
n.1544A>C
n.1511A>C
19g.11113570A>GCA10585437LDLRc.1652A>G (p.Tyr551Cys)
c.1394A>G (p.Tyr465Cys)
c.1274A>G (p.Tyr425Cys)
c.1648A>G
c.890A>G (p.Tyr297Cys)
c.1271A>G (p.Tyr424Cys)
c.1013A>G (p.Tyr338Cys)
c.115A>G
c.874A>G
n.1544A>G
n.1511A>G
 ClinVar dbSNP
19g.11113570A>TCA404085739LDLRc.1652A>T (p.Tyr551Phe)
c.1394A>T (p.Tyr465Phe)
c.1274A>T (p.Tyr425Phe)
c.1648A>T
c.890A>T (p.Tyr297Phe)
c.1271A>T (p.Tyr424Phe)
c.1013A>T (p.Tyr338Phe)
c.115A>T
c.874A>T
n.1544A>T
n.1511A>T
19g.11113571T>ACA404085742LDLRc.1653T>A (p.Tyr551Ter)
c.1395T>A (p.Tyr465Ter)
c.1275T>A (p.Tyr425Ter)
c.1649T>A
c.891T>A (p.Tyr297Ter)
c.1272T>A (p.Tyr424Ter)
c.1014T>A (p.Tyr338Ter)
c.116T>A
c.875T>A
n.1545T>A
n.1512T>A
19g.11113571T>CCA505743062LDLRc.1653T>C (p.Tyr551=)
c.1395T>C (p.Tyr465=)
c.1275T>C (p.Tyr425=)
c.1649T>C
c.891T>C (p.Tyr297=)
c.1272T>C (p.Tyr424=)
c.1014T>C (p.Tyr338=)
c.116T>C
c.875T>C
n.1545T>C
n.1512T>C
 dbSNP COSMIC
19g.11113571T>GCA404085745LDLRc.1653T>G (p.Tyr551Ter)
c.1395T>G (p.Tyr465Ter)
c.1275T>G (p.Tyr425Ter)
c.1649T>G
c.891T>G (p.Tyr297Ter)
c.1272T>G (p.Tyr424Ter)
c.1014T>G (p.Tyr338Ter)
c.116T>G
c.875T>G
n.1545T>G
n.1512T>G
19g.11113572G>ACA404085748LDLRc.1654G>A (p.Asp552Asn)
c.1396G>A (p.Asp466Asn)
c.1276G>A (p.Asp426Asn)
c.1650G>A
c.892G>A (p.Asp298Asn)
c.1273G>A (p.Asp425Asn)
c.1015G>A (p.Asp339Asn)
c.117G>A
c.876G>A
n.1546G>A
n.1513G>A
19g.11113572G>CCA404085749LDLRc.1654G>C (p.Asp552His)
c.1396G>C (p.Asp466His)
c.1276G>C (p.Asp426His)
c.1650G>C
c.892G>C (p.Asp298His)
c.1273G>C (p.Asp425His)
c.1015G>C (p.Asp339His)
c.117G>C
c.876G>C
n.1546G>C
n.1513G>C
19g.11113572G>TCA404085751LDLRc.1654G>T (p.Asp552Tyr)
c.1396G>T (p.Asp466Tyr)
c.1276G>T (p.Asp426Tyr)
c.1650G>T
c.892G>T (p.Asp298Tyr)
c.1273G>T (p.Asp425Tyr)
c.1015G>T (p.Asp339Tyr)
c.117G>T
c.876G>T
n.1546G>T
n.1513G>T
 gnomAD v4
19g.11113573A>CCA404085754LDLRc.1655A>C (p.Asp552Ala)
c.1397A>C (p.Asp466Ala)
c.1277A>C (p.Asp426Ala)
c.1651A>C
c.893A>C (p.Asp298Ala)
c.1274A>C (p.Asp425Ala)
c.1016A>C (p.Asp339Ala)
c.118A>C
c.877A>C
n.1547A>C
n.1514A>C
19g.11113573A>GCA404085757LDLRc.1655A>G (p.Asp552Gly)
c.1397A>G (p.Asp466Gly)
c.1277A>G (p.Asp426Gly)
c.1651A>G
c.893A>G (p.Asp298Gly)
c.1274A>G (p.Asp425Gly)
c.1016A>G (p.Asp339Gly)
c.118A>G
c.877A>G
n.1547A>G
n.1514A>G
19g.11113573A>TCA404085760LDLRc.1655A>T (p.Asp552Val)
c.1397A>T (p.Asp466Val)
c.1277A>T (p.Asp426Val)
c.1651A>T
c.893A>T (p.Asp298Val)
c.1274A>T (p.Asp425Val)
c.1016A>T (p.Asp339Val)
c.118A>T
c.877A>T
n.1547A>T
n.1514A>T
19g.11113575_11113576delCA2573050599LDLRc.1657_1658del (p.Thr553ArgfsTer?)
c.1399_1400del (p.Thr467ArgfsTer?)
c.1279_1280del (p.Thr427ArgfsTer?)
c.1653_1654del
c.895_896del (p.Thr299ArgfsTer?)
c.1276_1277del (p.Thr426ArgfsTer?)
c.1018_1019del (p.Thr340ArgfsTer?)
c.120_121del
c.879_880del
n.1549_1550del
n.1516_1517del
19g.11113574C>ACA404085764LDLRc.1656C>A (p.Asp552Glu)
c.1398C>A (p.Asp466Glu)
c.1278C>A (p.Asp426Glu)
c.1652C>A
c.894C>A (p.Asp298Glu)
c.1275C>A (p.Asp425Glu)
c.1017C>A (p.Asp339Glu)
c.119C>A
c.878C>A
n.1548C>A
n.1515C>A
19g.11113574C=CA2322771902LDLRc.1656C= (p.Asp552=)
c.1398C= (p.Asp466=)
c.1278C= (p.Asp426=)
c.1652C=
c.894C= (p.Asp298=)
c.1275C= (p.Asp425=)
c.1017C= (p.Asp339=)
c.119C=
c.878C=
n.1548C=
n.1515C=
19g.11113574C>GCA404085768LDLRc.1656C>G (p.Asp552Glu)
c.1398C>G (p.Asp466Glu)
c.1278C>G (p.Asp426Glu)
c.1652C>G
c.894C>G (p.Asp298Glu)
c.1275C>G (p.Asp425Glu)
c.1017C>G (p.Asp339Glu)
c.119C>G
c.878C>G
n.1548C>G
n.1515C>G
19g.11113574C>TCA305300098LDLRc.1656C>T (p.Asp552=)
c.1398C>T (p.Asp466=)
c.1278C>T (p.Asp426=)
c.1652C>T
c.894C>T (p.Asp298=)
c.1275C>T (p.Asp425=)
c.1017C>T (p.Asp339=)
c.119C>T
c.878C>T
n.1548C>T
n.1515C>T
 ClinVar dbSNP
19g.11113575A=CA2322771903LDLRc.1657A= (p.Thr553=)
c.1399A= (p.Thr467=)
c.1279A= (p.Thr427=)
c.1653A=
c.895A= (p.Thr299=)
c.1276A= (p.Thr426=)
c.1018A= (p.Thr340=)
c.120A=
c.879A=
n.1549A=
n.1516A=
19g.11113575A>CCA404085773LDLRc.1657A>C (p.Thr553Pro)
c.1399A>C (p.Thr467Pro)
c.1279A>C (p.Thr427Pro)
c.1653A>C
c.895A>C (p.Thr299Pro)
c.1276A>C (p.Thr426Pro)
c.1018A>C (p.Thr340Pro)
c.120A>C
c.879A>C
n.1549A>C
n.1516A>C
19g.11113575A>GCA404085774LDLRc.1657A>G (p.Thr553Ala)
c.1399A>G (p.Thr467Ala)
c.1279A>G (p.Thr427Ala)
c.1653A>G
c.895A>G (p.Thr299Ala)
c.1276A>G (p.Thr426Ala)
c.1018A>G (p.Thr340Ala)
c.120A>G
c.879A>G
n.1549A>G
n.1516A>G
19g.11113575A>TCA034140LDLRc.1657A>T (p.Thr553Ser)
c.1399A>T (p.Thr467Ser)
c.1279A>T (p.Thr427Ser)
c.1653A>T
c.895A>T (p.Thr299Ser)
c.1276A>T (p.Thr426Ser)
c.1018A>T (p.Thr340Ser)
c.120A>T
c.879A>T
n.1549A>T
n.1516A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113575_11113576delinsTACA2580096438LDLRc.1657_1658delinsTA (p.Thr553Tyr)
c.1399_1400delinsTA (p.Thr467Tyr)
c.1279_1280delinsTA (p.Thr427Tyr)
c.1653_1654delinsTA
c.895_896delinsTA (p.Thr299Tyr)
c.1276_1277delinsTA (p.Thr426Tyr)
c.1018_1019delinsTA (p.Thr340Tyr)
c.120_121delinsTA
c.879_880delinsTA
n.1549_1550delinsTA
n.1516_1517delinsTA
 ClinVar
19g.11113576C>ACA034172LDLRc.1658C>A (p.Thr553Asn)
c.1400C>A (p.Thr467Asn)
c.1280C>A (p.Thr427Asn)
c.1654C>A
c.896C>A (p.Thr299Asn)
c.1277C>A (p.Thr426Asn)
c.1019C>A (p.Thr340Asn)
c.121C>A
c.880C>A
n.1550C>A
n.1517C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113576C=CA2322771904LDLRc.1658C= (p.Thr553=)
c.1400C= (p.Thr467=)
c.1280C= (p.Thr427=)
c.1654C=
c.896C= (p.Thr299=)
c.1277C= (p.Thr426=)
c.1019C= (p.Thr340=)
c.121C=
c.880C=
n.1550C=
n.1517C=
19g.11113576C>GCA404085779LDLRc.1658C>G (p.Thr553Ser)
c.1400C>G (p.Thr467Ser)
c.1280C>G (p.Thr427Ser)
c.1654C>G
c.896C>G (p.Thr299Ser)
c.1277C>G (p.Thr426Ser)
c.1019C>G (p.Thr340Ser)
c.121C>G
c.880C>G
n.1550C>G
n.1517C>G
19g.11113576C>TCA10585438LDLRc.1658C>T (p.Thr553Ile)
c.1400C>T (p.Thr467Ile)
c.1280C>T (p.Thr427Ile)
c.1654C>T
c.896C>T (p.Thr299Ile)
c.1277C>T (p.Thr426Ile)
c.1019C>T (p.Thr340Ile)
c.121C>T
c.880C>T
n.1550C>T
n.1517C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11113577C>ACA505743066LDLRc.1659C>A (p.Thr553=)
c.1401C>A (p.Thr467=)
c.1281C>A (p.Thr427=)
c.1655C>A
c.897C>A (p.Thr299=)
c.1278C>A (p.Thr426=)
c.1020C>A (p.Thr340=)
c.122C>A
c.881C>A
n.1551C>A
n.1518C>A
19g.11113577C=CA2322771905LDLRc.1659C= (p.Thr553=)
c.1401C= (p.Thr467=)
c.1281C= (p.Thr427=)
c.1655C=
c.897C= (p.Thr299=)
c.1278C= (p.Thr426=)
c.1020C= (p.Thr340=)
c.122C=
c.881C=
n.1551C=
n.1518C=
19g.11113577C>GCA505743065LDLRc.1659C>G (p.Thr553=)
c.1401C>G (p.Thr467=)
c.1281C>G (p.Thr427=)
c.1655C>G
c.897C>G (p.Thr299=)
c.1278C>G (p.Thr426=)
c.1020C>G (p.Thr340=)
c.122C>G
c.881C>G
n.1551C>G
n.1518C>G
19g.11113577C>TCA034196LDLRc.1659C>T (p.Thr553=)
c.1401C>T (p.Thr467=)
c.1281C>T (p.Thr427=)
c.1655C>T
c.897C>T (p.Thr299=)
c.1278C>T (p.Thr426=)
c.1020C>T (p.Thr340=)
c.122C>T
c.881C>T
n.1551C>T
n.1518C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113577_11113580delinsGGCGTCTCTTCCTCA2695238673LDLRc.1659_1662delinsGGCGTCTCTTCCT (p.Val554delinsAlaSerLeuPro)
c.1401_1404delinsGGCGTCTCTTCCT (p.Val468delinsAlaSerLeuPro)
c.1281_1284delinsGGCGTCTCTTCCT (p.Val428delinsAlaSerLeuPro)
c.1655_1658delinsGGCGTCTCTTCCT
c.897_900delinsGGCGTCTCTTCCT (p.Val300delinsAlaSerLeuPro)
c.1278_1281delinsGGCGTCTCTTCCT (p.Val427delinsAlaSerLeuPro)
c.1020_1023delinsGGCGTCTCTTCCT (p.Val341delinsAlaSerLeuPro)
c.122_125delinsGGCGTCTCTTCCT
c.881_884delinsGGCGTCTCTTCCT
n.1551_1554delinsGGCGTCTCTTCCT
n.1518_1521delinsGGCGTCTCTTCCT
19g.11113578_11113583delCA2697556257LDLRc.1660_1665del (p.Val554_Ile555del)
c.1402_1407del (p.Val468_Ile469del)
c.1282_1287del (p.Val428_Ile429del)
c.1656_1661del
c.898_903del (p.Val300_Ile301del)
c.1279_1284del (p.Val427_Ile428del)
c.1021_1026del (p.Val341_Ile342del)
c.123_128del
c.882_887del
n.1552_1557del
n.1519_1524del
 ClinVar
19g.11113578G>ACA023485LDLRc.1660G>A (p.Val554Ile)
c.1402G>A (p.Val468Ile)
c.1282G>A (p.Val428Ile)
c.1656G>A
c.898G>A (p.Val300Ile)
c.1279G>A (p.Val427Ile)
c.1021G>A (p.Val341Ile)
c.123G>A
c.882G>A
n.1552G>A
n.1519G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113578G>CCA404085789LDLRc.1660G>C (p.Val554Leu)
c.1402G>C (p.Val468Leu)
c.1282G>C (p.Val428Leu)
c.1656G>C
c.898G>C (p.Val300Leu)
c.1279G>C (p.Val427Leu)
c.1021G>C (p.Val341Leu)
c.123G>C
c.882G>C
n.1552G>C
n.1519G>C
19g.11113578G=CA2322771906LDLRc.1660G= (p.Val554=)
c.1402G= (p.Val468=)
c.1282G= (p.Val428=)
c.1656G=
c.898G= (p.Val300=)
c.1279G= (p.Val427=)
c.1021G= (p.Val341=)
c.123G=
c.882G=
n.1552G=
n.1519G=
19g.11113578G>TCA404085794LDLRc.1660G>T (p.Val554Phe)
c.1402G>T (p.Val468Phe)
c.1282G>T (p.Val428Phe)
c.1656G>T
c.898G>T (p.Val300Phe)
c.1279G>T (p.Val427Phe)
c.1021G>T (p.Val341Phe)
c.123G>T
c.882G>T
n.1552G>T
n.1519G>T
19g.11113579T>ACA10585439LDLRc.1661T>A (p.Val554Asp)
c.1403T>A (p.Val468Asp)
c.1283T>A (p.Val428Asp)
c.1657T>A
c.899T>A (p.Val300Asp)
c.1280T>A (p.Val427Asp)
c.1022T>A (p.Val341Asp)
c.124T>A
c.883T>A
n.1553T>A
n.1520T>A
 ClinVar dbSNP
19g.11113579T>CCA404085798LDLRc.1661T>C (p.Val554Ala)
c.1403T>C (p.Val468Ala)
c.1283T>C (p.Val428Ala)
c.1657T>C
c.899T>C (p.Val300Ala)
c.1280T>C (p.Val427Ala)
c.1022T>C (p.Val341Ala)
c.124T>C
c.883T>C
n.1553T>C
n.1520T>C
19g.11113579T>GCA404085801LDLRc.1661T>G (p.Val554Gly)
c.1403T>G (p.Val468Gly)
c.1283T>G (p.Val428Gly)
c.1657T>G
c.899T>G (p.Val300Gly)
c.1280T>G (p.Val427Gly)
c.1022T>G (p.Val341Gly)
c.124T>G
c.883T>G
n.1553T>G
n.1520T>G
19g.11113579T=CA2322771907LDLRc.1661T= (p.Val554=)
c.1403T= (p.Val468=)
c.1283T= (p.Val428=)
c.1657T=
c.899T= (p.Val300=)
c.1280T= (p.Val427=)
c.1022T= (p.Val341=)
c.124T=
c.883T=
n.1553T=
n.1520T=
19g.11113580C>ACA505743068LDLRc.1662C>A (p.Val554=)
c.1404C>A (p.Val468=)
c.1284C>A (p.Val428=)
c.1658C>A
c.900C>A (p.Val300=)
c.1281C>A (p.Val427=)
c.1023C>A (p.Val341=)
c.125C>A
c.884C>A
n.1554C>A
n.1521C>A
19g.11113580C=CA2322771908LDLRc.1662C= (p.Val554=)
c.1404C= (p.Val468=)
c.1284C= (p.Val428=)
c.1658C=
c.900C= (p.Val300=)
c.1281C= (p.Val427=)
c.1023C= (p.Val341=)
c.125C=
c.884C=
n.1554C=
n.1521C=
19g.11113580C>GCA505743069LDLRc.1662C>G (p.Val554=)
c.1404C>G (p.Val468=)
c.1284C>G (p.Val428=)
c.1658C>G
c.900C>G (p.Val300=)
c.1281C>G (p.Val427=)
c.1023C>G (p.Val341=)
c.125C>G
c.884C>G
n.1554C>G
n.1521C>G
19g.11113580C>TCA505743070LDLRc.1662C>T (p.Val554=)
c.1404C>T (p.Val468=)
c.1284C>T (p.Val428=)
c.1658C>T
c.900C>T (p.Val300=)
c.1281C>T (p.Val427=)
c.1023C>T (p.Val341=)
c.125C>T
c.884C>T
n.1554C>T
n.1521C>T
 dbSNP
19g.11113581A=CA2322771909LDLRc.1663A= (p.Ile555=)
c.1405A= (p.Ile469=)
c.1285A= (p.Ile429=)
c.1659A=
c.901A= (p.Ile301=)
c.1282A= (p.Ile428=)
c.1024A= (p.Ile342=)
c.126A=
c.885A=
n.1555A=
n.1522A=
19g.11113581A>CCA404085804LDLRc.1663A>C (p.Ile555Leu)
c.1405A>C (p.Ile469Leu)
c.1285A>C (p.Ile429Leu)
c.1659A>C
c.901A>C (p.Ile301Leu)
c.1282A>C (p.Ile428Leu)
c.1024A>C (p.Ile342Leu)
c.126A>C
c.885A>C
n.1555A>C
n.1522A>C
19g.11113581A>GCA404085805LDLRc.1663A>G (p.Ile555Val)
c.1405A>G (p.Ile469Val)
c.1285A>G (p.Ile429Val)
c.1659A>G
c.901A>G (p.Ile301Val)
c.1282A>G (p.Ile428Val)
c.1024A>G (p.Ile342Val)
c.126A>G
c.885A>G
n.1555A>G
n.1522A>G
19g.11113581A>TCA404085806LDLRc.1663A>T (p.Ile555Phe)
c.1405A>T (p.Ile469Phe)
c.1285A>T (p.Ile429Phe)
c.1659A>T
c.901A>T (p.Ile301Phe)
c.1282A>T (p.Ile428Phe)
c.1024A>T (p.Ile342Phe)
c.126A>T
c.885A>T
n.1555A>T
n.1522A>T
 dbSNP
19g.11113582T>ACA404085808LDLRc.1664T>A (p.Ile555Asn)
c.1406T>A (p.Ile469Asn)
c.1286T>A (p.Ile429Asn)
c.1660T>A
c.902T>A (p.Ile301Asn)
c.1283T>A (p.Ile428Asn)
c.1025T>A (p.Ile342Asn)
c.127T>A
c.886T>A
n.1556T>A
n.1523T>A
 ClinVar dbSNP
19g.11113582T>CCA404085809LDLRc.1664T>C (p.Ile555Thr)
c.1406T>C (p.Ile469Thr)
c.1286T>C (p.Ile429Thr)
c.1660T>C
c.902T>C (p.Ile301Thr)
c.1283T>C (p.Ile428Thr)
c.1025T>C (p.Ile342Thr)
c.127T>C
c.886T>C
n.1556T>C
n.1523T>C
19g.11113582T>GCA404085807LDLRc.1664T>G (p.Ile555Ser)
c.1406T>G (p.Ile469Ser)
c.1286T>G (p.Ile429Ser)
c.1660T>G
c.902T>G (p.Ile301Ser)
c.1283T>G (p.Ile428Ser)
c.1025T>G (p.Ile342Ser)
c.127T>G
c.886T>G
n.1556T>G
n.1523T>G
19g.11113582T=CA2322771910LDLRc.1664T= (p.Ile555=)
c.1406T= (p.Ile469=)
c.1286T= (p.Ile429=)
c.1660T=
c.902T= (p.Ile301=)
c.1283T= (p.Ile428=)
c.1025T= (p.Ile342=)
c.127T=
c.886T=
n.1556T=
n.1523T=
19g.11113583C>ACA505743074LDLRc.1665C>A (p.Ile555=)
c.1407C>A (p.Ile469=)
c.1287C>A (p.Ile429=)
c.1661C>A
c.903C>A (p.Ile301=)
c.1284C>A (p.Ile428=)
c.1026C>A (p.Ile342=)
c.128C>A
c.887C>A
n.1557C>A
n.1524C>A
19g.11113583C>GCA404085814LDLRc.1665C>G (p.Ile555Met)
c.1407C>G (p.Ile469Met)
c.1287C>G (p.Ile429Met)
c.1661C>G
c.903C>G (p.Ile301Met)
c.1284C>G (p.Ile428Met)
c.1026C>G (p.Ile342Met)
c.128C>G
c.887C>G
n.1557C>G
n.1524C>G
19g.11113583C>TCA505743075LDLRc.1665C>T (p.Ile555=)
c.1407C>T (p.Ile469=)
c.1287C>T (p.Ile429=)
c.1661C>T
c.903C>T (p.Ile301=)
c.1284C>T (p.Ile428=)
c.1026C>T (p.Ile342=)
c.128C>T
c.887C>T
n.1557C>T
n.1524C>T
 ClinVar gnomAD v4
19g.11113584A=CA2322771911LDLRc.1666A= (p.Ser556=)
c.1408A= (p.Ser470=)
c.1288A= (p.Ser430=)
c.1662A=
c.904A= (p.Ser302=)
c.1285A= (p.Ser429=)
c.1027A= (p.Ser343=)
c.129A=
c.888A=
n.1558A=
n.1525A=
19g.11113584A>CCA404085816LDLRc.1666A>C (p.Ser556Arg)
c.1408A>C (p.Ser470Arg)
c.1288A>C (p.Ser430Arg)
c.1662A>C
c.904A>C (p.Ser302Arg)
c.1285A>C (p.Ser429Arg)
c.1027A>C (p.Ser343Arg)
c.129A>C
c.888A>C
n.1558A>C
n.1525A>C
19g.11113584A>GCA10654852LDLRc.1666A>G (p.Ser556Gly)
c.1408A>G (p.Ser470Gly)
c.1288A>G (p.Ser430Gly)
c.1662A>G
c.904A>G (p.Ser302Gly)
c.1285A>G (p.Ser429Gly)
c.1027A>G (p.Ser343Gly)
c.129A>G
c.888A>G
n.1558A>G
n.1525A>G
 ClinVar dbSNP gnomAD v4
19g.11113584A>TCA404085821LDLRc.1666A>T (p.Ser556Cys)
c.1408A>T (p.Ser470Cys)
c.1288A>T (p.Ser430Cys)
c.1662A>T
c.904A>T (p.Ser302Cys)
c.1285A>T (p.Ser429Cys)
c.1027A>T (p.Ser343Cys)
c.129A>T
c.888A>T
n.1558A>T
n.1525A>T
 ClinVar dbSNP
19g.11113585G>ACA305300099LDLRc.1667G>A (p.Ser556Asn)
c.1409G>A (p.Ser470Asn)
c.1289G>A (p.Ser430Asn)
c.1663G>A
c.905G>A (p.Ser302Asn)
c.1286G>A (p.Ser429Asn)
c.1028G>A (p.Ser343Asn)
c.130G>A
c.889G>A
n.1559G>A
n.1526G>A
 dbSNP
19g.11113585G>CCA404085826LDLRc.1667G>C (p.Ser556Thr)
c.1409G>C (p.Ser470Thr)
c.1289G>C (p.Ser430Thr)
c.1663G>C
c.905G>C (p.Ser302Thr)
c.1286G>C (p.Ser429Thr)
c.1028G>C (p.Ser343Thr)
c.130G>C
c.889G>C
n.1559G>C
n.1526G>C
19g.11113585G=CA2322771912LDLRc.1667G= (p.Ser556=)
c.1409G= (p.Ser470=)
c.1289G= (p.Ser430=)
c.1663G=
c.905G= (p.Ser302=)
c.1286G= (p.Ser429=)
c.1028G= (p.Ser343=)
c.130G=
c.889G=
n.1559G=
n.1526G=
19g.11113585G>TCA404085828LDLRc.1667G>T (p.Ser556Ile)
c.1409G>T (p.Ser470Ile)
c.1289G>T (p.Ser430Ile)
c.1663G>T
c.905G>T (p.Ser302Ile)
c.1286G>T (p.Ser429Ile)
c.1028G>T (p.Ser343Ile)
c.130G>T
c.889G>T
n.1559G>T
n.1526G>T
19g.11113586C>ACA404085832LDLRc.1668C>A (p.Ser556Arg)
c.1410C>A (p.Ser470Arg)
c.1290C>A (p.Ser430Arg)
c.1664C>A
c.906C>A (p.Ser302Arg)
c.1287C>A (p.Ser429Arg)
c.1029C>A (p.Ser343Arg)
c.131C>A
c.890C>A
n.1560C>A
n.1527C>A
19g.11113586C>GCA404085835LDLRc.1668C>G (p.Ser556Arg)
c.1410C>G (p.Ser470Arg)
c.1290C>G (p.Ser430Arg)
c.1664C>G
c.906C>G (p.Ser302Arg)
c.1287C>G (p.Ser429Arg)
c.1029C>G (p.Ser343Arg)
c.131C>G
c.890C>G
n.1560C>G
n.1527C>G
19g.11113586C>TCA505743077LDLRc.1668C>T (p.Ser556=)
c.1410C>T (p.Ser470=)
c.1290C>T (p.Ser430=)
c.1664C>T
c.906C>T (p.Ser302=)
c.1287C>T (p.Ser429=)
c.1029C>T (p.Ser343=)
c.131C>T
c.890C>T
n.1560C>T
n.1527C>T
19g.11113587delCA2499225319LDLRc.1669del (p.Arg557GlufsTer?)
c.1411del (p.Arg471GlufsTer?)
c.1291del (p.Arg431GlufsTer?)
c.1665del
c.907del (p.Arg303GlufsTer?)
c.1288del (p.Arg430GlufsTer?)
c.1030del (p.Arg344GlufsTer?)
c.132del
c.891del
n.1561del
n.1528del
 ClinVar dbSNP
19g.11113587A=CA2322771913LDLRc.1669A= (p.Arg557=)
c.1411A= (p.Arg471=)
c.1291A= (p.Arg431=)
c.1665A=
c.907A= (p.Arg303=)
c.1288A= (p.Arg430=)
c.1030A= (p.Arg344=)
c.132A=
c.891A=
n.1561A=
n.1528A=
19g.11113587A>CCA505743079LDLRc.1669A>C (p.Arg557=)
c.1411A>C (p.Arg471=)
c.1291A>C (p.Arg431=)
c.1665A>C
c.907A>C (p.Arg303=)
c.1288A>C (p.Arg430=)
c.1030A>C (p.Arg344=)
c.132A>C
c.891A>C
n.1561A>C
n.1528A>C
19g.11113587A>GCA10585440LDLRc.1669A>G (p.Arg557Gly)
c.1411A>G (p.Arg471Gly)
c.1291A>G (p.Arg431Gly)
c.1665A>G
c.907A>G (p.Arg303Gly)
c.1288A>G (p.Arg430Gly)
c.1030A>G (p.Arg344Gly)
c.132A>G
c.891A>G
n.1561A>G
n.1528A>G
 ClinVar dbSNP
19g.11113587A>TCA404085840LDLRc.1669A>T (p.Arg557Ter)
c.1411A>T (p.Arg471Ter)
c.1291A>T (p.Arg431Ter)
c.1665A>T
c.907A>T (p.Arg303Ter)
c.1288A>T (p.Arg430Ter)
c.1030A>T (p.Arg344Ter)
c.132A>T
c.891A>T
n.1561A>T
n.1528A>T
19g.11113588G>ACA404085845LDLRc.1670G>A (p.Arg557Lys)
c.1412G>A (p.Arg471Lys)
c.1292G>A (p.Arg431Lys)
c.1666G>A
c.908G>A (p.Arg303Lys)
c.1289G>A (p.Arg430Lys)
c.1031G>A (p.Arg344Lys)
c.133G>A
c.892G>A
n.1562G>A
n.1529G>A
 ClinVar dbSNP gnomAD v4
19g.11113588G>CCA404085848LDLRc.1670G>C (p.Arg557Thr)
c.1412G>C (p.Arg471Thr)
c.1292G>C (p.Arg431Thr)
c.1666G>C
c.908G>C (p.Arg303Thr)
c.1289G>C (p.Arg430Thr)
c.1031G>C (p.Arg344Thr)
c.133G>C
c.892G>C
n.1562G>C
n.1529G>C
19g.11113588G=CA2322771915LDLRc.1670G= (p.Arg557=)
c.1412G= (p.Arg471=)
c.1292G= (p.Arg431=)
c.1666G=
c.908G= (p.Arg303=)
c.1289G= (p.Arg430=)
c.1031G= (p.Arg344=)
c.133G=
c.892G=
n.1562G=
n.1529G=
19g.11113588G>TCA404085843LDLRc.1670G>T (p.Arg557Ile)
c.1412G>T (p.Arg471Ile)
c.1292G>T (p.Arg431Ile)
c.1666G>T
c.908G>T (p.Arg303Ile)
c.1289G>T (p.Arg430Ile)
c.1031G>T (p.Arg344Ile)
c.133G>T
c.892G>T
n.1562G>T
n.1529G>T
19g.11113588_11113590delinsGAGCA2322771914LDLRc.1670_1672delinsGAG (p.Arg557=)
c.1412_1414delinsGAG (p.Arg471=)
c.1292_1294delinsGAG (p.Arg431=)
c.1666_1668delinsGAG
c.908_910delinsGAG (p.Arg303=)
c.1289_1291delinsGAG (p.Arg430=)
c.1031_1033delinsGAG (p.Arg344=)
c.133_135delinsGAG
c.892_894delinsGAG
n.1562_1564delinsGAG
n.1529_1531delinsGAG
19g.11113588_11113589insGGACCA034225LDLRc.1670_1671insGGAC (p.Ile559ArgfsTer?)
c.1412_1413insGGAC (p.Ile473ArgfsTer?)
c.1292_1293insGGAC (p.Ile433ArgfsTer?)
c.1666_1667insGGAC
c.908_909insGGAC (p.Ile305ArgfsTer?)
c.1289_1290insGGAC (p.Ile432ArgfsTer?)
c.1031_1032insGGAC (p.Ile346ArgfsTer?)
c.133_134insGGAC
c.892_893insGGAC
n.1562_1563insGGAC
n.1529_1530insGGAC
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11113589A=CA2322771916LDLRc.1671A= (p.Arg557=)
c.1413A= (p.Arg471=)
c.1293A= (p.Arg431=)
c.1667A=
c.909A= (p.Arg303=)
c.1290A= (p.Arg430=)
c.1032A= (p.Arg344=)
c.134A=
c.893A=
n.1563A=
n.1530A=
19g.11113589A>CCA404085854LDLRc.1671A>C (p.Arg557Ser)
c.1413A>C (p.Arg471Ser)
c.1293A>C (p.Arg431Ser)
c.1667A>C
c.909A>C (p.Arg303Ser)
c.1290A>C (p.Arg430Ser)
c.1032A>C (p.Arg344Ser)
c.134A>C
c.893A>C
n.1563A>C
n.1530A>C
19g.11113589A>GCA023488LDLRc.1671A>G (p.Arg557=)
c.1413A>G (p.Arg471=)
c.1293A>G (p.Arg431=)
c.1667A>G
c.909A>G (p.Arg303=)
c.1290A>G (p.Arg430=)
c.1032A>G (p.Arg344=)
c.134A>G
c.893A>G
n.1563A>G
n.1530A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113589A>TCA404085859LDLRc.1671A>T (p.Arg557Ser)
c.1413A>T (p.Arg471Ser)
c.1293A>T (p.Arg431Ser)
c.1667A>T
c.909A>T (p.Arg303Ser)
c.1290A>T (p.Arg430Ser)
c.1032A>T (p.Arg344Ser)
c.134A>T
c.893A>T
n.1563A>T
n.1530A>T
 dbSNP gnomAD v4
19g.11113589_11113590delinsAGCA2322771918LDLRc.1671_1672delinsAG (p.Arg557=)
c.1413_1414delinsAG (p.Arg471=)
c.1293_1294delinsAG (p.Arg431=)
c.1667_1668delinsAG
c.909_910delinsAG (p.Arg303=)
c.1290_1291delinsAG (p.Arg430=)
c.1032_1033delinsAG (p.Arg344=)
c.134_135delinsAG
c.893_894delinsAG
n.1563_1564delinsAG
n.1530_1531delinsAG
19g.11113589_11113590delinsGACA913188994LDLRc.1671_1672delinsGA (p.Asp558Asn)
c.1413_1414delinsGA (p.Asp472Asn)
c.1293_1294delinsGA (p.Asp432Asn)
c.1667_1668delinsGA
c.909_910delinsGA (p.Asp304Asn)
c.1290_1291delinsGA (p.Asp431Asn)
c.1032_1033delinsGA (p.Asp345Asn)
c.134_135delinsGA
c.893_894delinsGA
n.1563_1564delinsGA
n.1530_1531delinsGA
 ClinVar dbSNP
19g.11113589_11113590delinsGGACATCA645509280LDLRc.1671_1672delinsGGACAT (p.Gln560HisfsTer?)
c.1413_1414delinsGGACAT (p.Gln474HisfsTer?)
c.1293_1294delinsGGACAT (p.Gln434HisfsTer?)
c.1667_1668delinsGGACAT
c.909_910delinsGGACAT (p.Gln306HisfsTer?)
c.1290_1291delinsGGACAT (p.Gln433HisfsTer?)
c.1032_1033delinsGGACAT (p.Gln347HisfsTer?)
c.134_135delinsGGACAT
c.893_894delinsGGACAT
n.1563_1564delinsGGACAT
n.1530_1531delinsGGACAT
 ClinVar dbSNP
19g.11113589_11113604delinsAGACATCCAGGCCCCCCA2322771917LDLRc.1671_1686delinsAGACATCCAGGCCCCC (p.Arg557=)
c.1413_1428delinsAGACATCCAGGCCCCC (p.Arg471=)
c.1293_1308delinsAGACATCCAGGCCCCC (p.Arg431=)
c.1667_1682delinsAGACATCCAGGCCCCC
c.909_924delinsAGACATCCAGGCCCCC (p.Arg303=)
c.1290_1305delinsAGACATCCAGGCCCCC (p.Arg430=)
c.1032_1047delinsAGACATCCAGGCCCCC (p.Arg344=)
c.134_149delinsAGACATCCAGGCCCCC
c.893_908delinsAGACATCCAGGCCCCC
n.1563_1578delinsAGACATCCAGGCCCCC
n.1530_1545delinsAGACATCCAGGCCCCC
19g.11113590G>ACA404085864LDLRc.1672G>A (p.Asp558Asn)
c.1414G>A (p.Asp472Asn)
c.1294G>A (p.Asp432Asn)
c.1668G>A
c.910G>A (p.Asp304Asn)
c.1291G>A (p.Asp431Asn)
c.1033G>A (p.Asp345Asn)
c.135G>A
c.894G>A
n.1564G>A
n.1531G>A
 ClinVar dbSNP gnomAD v4
19g.11113590G>CCA404085861LDLRc.1672G>C (p.Asp558His)
c.1414G>C (p.Asp472His)
c.1294G>C (p.Asp432His)
c.1668G>C
c.910G>C (p.Asp304His)
c.1291G>C (p.Asp431His)
c.1033G>C (p.Asp345His)
c.135G>C
c.894G>C
n.1564G>C
n.1531G>C
19g.11113590G=CA2322771919LDLRc.1672G= (p.Asp558=)
c.1414G= (p.Asp472=)
c.1294G= (p.Asp432=)
c.1668G=
c.910G= (p.Asp304=)
c.1291G= (p.Asp431=)
c.1033G= (p.Asp345=)
c.135G=
c.894G=
n.1564G=
n.1531G=
19g.11113590G>TCA023492LDLRc.1672G>T (p.Asp558Tyr)
c.1414G>T (p.Asp472Tyr)
c.1294G>T (p.Asp432Tyr)
c.1668G>T
c.910G>T (p.Asp304Tyr)
c.1291G>T (p.Asp431Tyr)
c.1033G>T (p.Asp345Tyr)
c.135G>T
c.894G>T
n.1564G>T
n.1531G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.11113591A>CCA404085867LDLRc.1673A>C (p.Asp558Ala)
c.1415A>C (p.Asp472Ala)
c.1295A>C (p.Asp432Ala)
c.1669A>C
c.911A>C (p.Asp304Ala)
c.1292A>C (p.Asp431Ala)
c.1034A>C (p.Asp345Ala)
c.136A>C
c.895A>C
n.1565A>C
n.1532A>C
 gnomAD v4
19g.11113591A>GCA404085870LDLRc.1673A>G (p.Asp558Gly)
c.1415A>G (p.Asp472Gly)
c.1295A>G (p.Asp432Gly)
c.1669A>G
c.911A>G (p.Asp304Gly)
c.1292A>G (p.Asp431Gly)
c.1034A>G (p.Asp345Gly)
c.136A>G
c.895A>G
n.1565A>G
n.1532A>G
19g.11113591A>TCA404085873LDLRc.1673A>T (p.Asp558Val)
c.1415A>T (p.Asp472Val)
c.1295A>T (p.Asp432Val)
c.1669A>T
c.911A>T (p.Asp304Val)
c.1292A>T (p.Asp431Val)
c.1034A>T (p.Asp345Val)
c.136A>T
c.895A>T
n.1565A>T
n.1532A>T
19g.11113591_11113594dupCA10585441LDLRc.1673_1676dup (p.Gln560HisfsTer?)
c.1415_1418dup (p.Gln474HisfsTer?)
c.1295_1298dup (p.Gln434HisfsTer?)
c.1669_1672dup
c.911_914dup (p.Gln306HisfsTer?)
c.1292_1295dup (p.Gln433HisfsTer?)
c.1034_1037dup (p.Gln347HisfsTer?)
c.136_139dup
c.895_898dup
n.1565_1568dup
n.1532_1535dup
 ClinVar dbSNP
19g.11113592C>ACA404085880LDLRc.1674C>A (p.Asp558Glu)
c.1416C>A (p.Asp472Glu)
c.1296C>A (p.Asp432Glu)
c.1670C>A
c.912C>A (p.Asp304Glu)
c.1293C>A (p.Asp431Glu)
c.1035C>A (p.Asp345Glu)
c.137C>A
c.896C>A
n.1566C>A
n.1533C>A
19g.11113592C=CA2322771920LDLRc.1674C= (p.Asp558=)
c.1416C= (p.Asp472=)
c.1296C= (p.Asp432=)
c.1670C=
c.912C= (p.Asp304=)
c.1293C= (p.Asp431=)
c.1035C= (p.Asp345=)
c.137C=
c.896C=
n.1566C=
n.1533C=
19g.11113592C>GCA404085882LDLRc.1674C>G (p.Asp558Glu)
c.1416C>G (p.Asp472Glu)
c.1296C>G (p.Asp432Glu)
c.1670C>G
c.912C>G (p.Asp304Glu)
c.1293C>G (p.Asp431Glu)
c.1035C>G (p.Asp345Glu)
c.137C>G
c.896C>G
n.1566C>G
n.1533C>G
19g.11113592C>TCA505743083LDLRc.1674C>T (p.Asp558=)
c.1416C>T (p.Asp472=)
c.1296C>T (p.Asp432=)
c.1670C>T
c.912C>T (p.Asp304=)
c.1293C>T (p.Asp431=)
c.1035C>T (p.Asp345=)
c.137C>T
c.896C>T
n.1566C>T
n.1533C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11113593A=CA2322771921LDLRc.1675A= (p.Ile559=)
c.1417A= (p.Ile473=)
c.1297A= (p.Ile433=)
c.1671A=
c.913A= (p.Ile305=)
c.1294A= (p.Ile432=)
c.1036A= (p.Ile346=)
c.138A=
c.897A=
n.1567A=
n.1534A=
19g.11113593A>CCA404085886LDLRc.1675A>C (p.Ile559Leu)
c.1417A>C (p.Ile473Leu)
c.1297A>C (p.Ile433Leu)
c.1671A>C
c.913A>C (p.Ile305Leu)
c.1294A>C (p.Ile432Leu)
c.1036A>C (p.Ile346Leu)
c.138A>C
c.897A>C
n.1567A>C
n.1534A>C
19g.11113593A>GCA10585442LDLRc.1675A>G (p.Ile559Val)
c.1417A>G (p.Ile473Val)
c.1297A>G (p.Ile433Val)
c.1671A>G
c.913A>G (p.Ile305Val)
c.1294A>G (p.Ile432Val)
c.1036A>G (p.Ile346Val)
c.138A>G
c.897A>G
n.1567A>G
n.1534A>G
 ClinVar dbSNP gnomAD v4
19g.11113593A>TCA404085888LDLRc.1675A>T (p.Ile559Phe)
c.1417A>T (p.Ile473Phe)
c.1297A>T (p.Ile433Phe)
c.1671A>T
c.913A>T (p.Ile305Phe)
c.1294A>T (p.Ile432Phe)
c.1036A>T (p.Ile346Phe)
c.138A>T
c.897A>T
n.1567A>T
n.1534A>T
19g.11113594T>ACA10585444LDLRc.1676T>A (p.Ile559Asn)
c.1418T>A (p.Ile473Asn)
c.1298T>A (p.Ile433Asn)
c.1672T>A
c.914T>A (p.Ile305Asn)
c.1295T>A (p.Ile432Asn)
c.1037T>A (p.Ile346Asn)
c.139T>A
c.898T>A
n.1568T>A
n.1535T>A
 ClinVar dbSNP
19g.11113594T>CCA404085891LDLRc.1676T>C (p.Ile559Thr)
c.1418T>C (p.Ile473Thr)
c.1298T>C (p.Ile433Thr)
c.1672T>C
c.914T>C (p.Ile305Thr)
c.1295T>C (p.Ile432Thr)
c.1037T>C (p.Ile346Thr)
c.139T>C
c.898T>C
n.1568T>C
n.1535T>C
19g.11113594T>GCA404085893LDLRc.1676T>G (p.Ile559Ser)
c.1418T>G (p.Ile473Ser)
c.1298T>G (p.Ile433Ser)
c.1672T>G
c.914T>G (p.Ile305Ser)
c.1295T>G (p.Ile432Ser)
c.1037T>G (p.Ile346Ser)
c.139T>G
c.898T>G
n.1568T>G
n.1535T>G
 ClinVar dbSNP
19g.11113594T=CA2322771922LDLRc.1676T= (p.Ile559=)
c.1418T= (p.Ile473=)
c.1298T= (p.Ile433=)
c.1672T=
c.914T= (p.Ile305=)
c.1295T= (p.Ile432=)
c.1037T= (p.Ile346=)
c.139T=
c.898T=
n.1568T=
n.1535T=
19g.11113594_11113595delinsAACA2695228178LDLRc.1676_1677delinsAA (p.Ile559Lys)
c.1418_1419delinsAA (p.Ile473Lys)
c.1298_1299delinsAA (p.Ile433Lys)
c.1672_1673delinsAA
c.914_915delinsAA (p.Ile305Lys)
c.1295_1296delinsAA (p.Ile432Lys)
c.1037_1038delinsAA (p.Ile346Lys)
c.139_140delinsAA
c.898_899delinsAA
n.1568_1569delinsAA
n.1535_1536delinsAA
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.11113595C>ACA505743085LDLRc.1677C>A (p.Ile559=)
c.1419C>A (p.Ile473=)
c.1299C>A (p.Ile433=)
c.1673C>A
c.915C>A (p.Ile305=)
c.1296C>A (p.Ile432=)
c.1038C>A (p.Ile346=)
c.140C>A
c.899C>A
n.1569C>A
n.1536C>A
19g.11113595C>GCA404085899LDLRc.1677C>G (p.Ile559Met)
c.1419C>G (p.Ile473Met)
c.1299C>G (p.Ile433Met)
c.1673C>G
c.915C>G (p.Ile305Met)
c.1296C>G (p.Ile432Met)
c.1038C>G (p.Ile346Met)
c.140C>G
c.899C>G
n.1569C>G
n.1536C>G
19g.11113595C>TCA505743086LDLRc.1677C>T (p.Ile559=)
c.1419C>T (p.Ile473=)
c.1299C>T (p.Ile433=)
c.1673C>T
c.915C>T (p.Ile305=)
c.1296C>T (p.Ile432=)
c.1038C>T (p.Ile346=)
c.140C>T
c.899C>T
n.1569C>T
n.1536C>T
19g.11113596C>ACA404085902LDLRc.1678C>A (p.Gln560Lys)
c.1420C>A (p.Gln474Lys)
c.1300C>A (p.Gln434Lys)
c.1674C>A
c.916C>A (p.Gln306Lys)
c.1297C>A (p.Gln433Lys)
c.1039C>A (p.Gln347Lys)
c.141C>A
c.900C>A
n.1570C>A
n.1537C>A
19g.11113596C=CA2322771923LDLRc.1678C= (p.Gln560=)
c.1420C= (p.Gln474=)
c.1300C= (p.Gln434=)
c.1674C=
c.916C= (p.Gln306=)
c.1297C= (p.Gln433=)
c.1039C= (p.Gln347=)
c.141C=
c.900C=
n.1570C=
n.1537C=
19g.11113596C>GCA034281LDLRc.1678C>G (p.Gln560Glu)
c.1420C>G (p.Gln474Glu)
c.1300C>G (p.Gln434Glu)
c.1674C>G
c.916C>G (p.Gln306Glu)
c.1297C>G (p.Gln433Glu)
c.1039C>G (p.Gln347Glu)
c.141C>G
c.900C>G
n.1570C>G
n.1537C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11113596C>TCA10585445LDLRc.1678C>T (p.Gln560Ter)
c.1420C>T (p.Gln474Ter)
c.1300C>T (p.Gln434Ter)
c.1674C>T
c.916C>T (p.Gln306Ter)
c.1297C>T (p.Gln433Ter)
c.1039C>T (p.Gln347Ter)
c.141C>T
c.900C>T
n.1570C>T
n.1537C>T
 ClinVar dbSNP
19g.11113597A=CA2322771924LDLRc.1679A= (p.Gln560=)
c.1421A= (p.Gln474=)
c.1301A= (p.Gln434=)
c.1675A=
c.917A= (p.Gln306=)
c.1298A= (p.Gln433=)
c.1040A= (p.Gln347=)
c.142A=
c.901A=
n.1571A=
n.1538A=
19g.11113597A>CCA404085909LDLRc.1679A>C (p.Gln560Pro)
c.1421A>C (p.Gln474Pro)
c.1301A>C (p.Gln434Pro)
c.1675A>C
c.917A>C (p.Gln306Pro)
c.1298A>C (p.Gln433Pro)
c.1040A>C (p.Gln347Pro)
c.142A>C
c.901A>C
n.1571A>C
n.1538A>C
19g.11113597A>GCA404085913LDLRc.1679A>G (p.Gln560Arg)
c.1421A>G (p.Gln474Arg)
c.1301A>G (p.Gln434Arg)
c.1675A>G
c.917A>G (p.Gln306Arg)
c.1298A>G (p.Gln433Arg)
c.1040A>G (p.Gln347Arg)
c.142A>G
c.901A>G
n.1571A>G
n.1538A>G
 dbSNP
19g.11113597A>TCA404085914LDLRc.1679A>T (p.Gln560Leu)
c.1421A>T (p.Gln474Leu)
c.1301A>T (p.Gln434Leu)
c.1675A>T
c.917A>T (p.Gln306Leu)
c.1298A>T (p.Gln433Leu)
c.1040A>T (p.Gln347Leu)
c.142A>T
c.901A>T
n.1571A>T
n.1538A>T
19g.11113598G>ACA505743089LDLRc.1680G>A (p.Gln560=)
c.1422G>A (p.Gln474=)
c.1302G>A (p.Gln434=)
c.1676G>A
c.918G>A (p.Gln306=)
c.1299G>A (p.Gln433=)
c.1041G>A (p.Gln347=)
c.143G>A
c.902G>A
n.1572G>A
n.1539G>A
19g.11113598G>CCA404085917LDLRc.1680G>C (p.Gln560His)
c.1422G>C (p.Gln474His)
c.1302G>C (p.Gln434His)
c.1676G>C
c.918G>C (p.Gln306His)
c.1299G>C (p.Gln433His)
c.1041G>C (p.Gln347His)
c.143G>C
c.902G>C
n.1572G>C
n.1539G>C
19g.11113598G>TCA404085919LDLRc.1680G>T (p.Gln560His)
c.1422G>T (p.Gln474His)
c.1302G>T (p.Gln434His)
c.1676G>T
c.918G>T (p.Gln306His)
c.1299G>T (p.Gln433His)
c.1041G>T (p.Gln347His)
c.143G>T
c.902G>T
n.1572G>T
n.1539G>T
 ClinVar dbSNP
19g.11113598_11113600delinsGGCCA2322771925LDLRc.1680_1682delinsGGC (p.Gln560=)
c.1422_1424delinsGGC (p.Gln474=)
c.1302_1304delinsGGC (p.Gln434=)
c.1676_1678delinsGGC
c.918_920delinsGGC (p.Gln306=)
c.1299_1301delinsGGC (p.Gln433=)
c.1041_1043delinsGGC (p.Gln347=)
c.143_145delinsGGC
c.902_904delinsGGC
n.1572_1574delinsGGC
n.1539_1541delinsGGC
19g.11113599G>ACA404085932LDLRc.1681G>A (p.Ala561Thr)
c.1423G>A (p.Ala475Thr)
c.1303G>A (p.Ala435Thr)
c.1677G>A
c.919G>A (p.Ala307Thr)
c.1300G>A (p.Ala434Thr)
c.1042G>A (p.Ala348Thr)
c.144G>A
c.903G>A
n.1573G>A
n.1540G>A
 gnomAD v4
19g.11113599G>CCA404085924LDLRc.1681G>C (p.Ala561Pro)
c.1423G>C (p.Ala475Pro)
c.1303G>C (p.Ala435Pro)
c.1677G>C
c.919G>C (p.Ala307Pro)
c.1300G>C (p.Ala434Pro)
c.1042G>C (p.Ala348Pro)
c.144G>C
c.903G>C
n.1573G>C
n.1540G>C
19g.11113599G=CA2322771926LDLRc.1681G= (p.Ala561=)
c.1423G= (p.Ala475=)
c.1303G= (p.Ala435=)
c.1677G=
c.919G= (p.Ala307=)
c.1300G= (p.Ala434=)
c.1042G= (p.Ala348=)
c.144G=
c.903G=
n.1573G=
n.1540G=
19g.11113599G>TCA404085927LDLRc.1681G>T (p.Ala561Ser)
c.1423G>T (p.Ala475Ser)
c.1303G>T (p.Ala435Ser)
c.1677G>T
c.919G>T (p.Ala307Ser)
c.1300G>T (p.Ala434Ser)
c.1042G>T (p.Ala348Ser)
c.144G>T
c.903G>T
n.1573G>T
n.1540G>T
19g.11113599_11113600delinsACA10585446LDLRc.1681_1682delinsA (p.Ala561ThrfsTer?)
c.1423_1424delinsA (p.Ala475ThrfsTer?)
c.1303_1304delinsA (p.Ala435ThrfsTer?)
c.1677_1678delinsA
c.919_920delinsA (p.Ala307ThrfsTer?)
c.1300_1301delinsA (p.Ala434ThrfsTer?)
c.1042_1043delinsA (p.Ala348ThrfsTer?)
c.144_145delinsA
c.903_904delinsA
n.1573_1574delinsA
n.1540_1541delinsA
 ClinVar dbSNP
19g.11113600C>ACA404085935LDLRc.1682C>A (p.Ala561Asp)
c.1424C>A (p.Ala475Asp)
c.1304C>A (p.Ala435Asp)
c.1678C>A
c.920C>A (p.Ala307Asp)
c.1301C>A (p.Ala434Asp)
c.1043C>A (p.Ala348Asp)
c.145C>A
c.904C>A
n.1574C>A
n.1541C>A
19g.11113600C=CA2322771927LDLRc.1682C= (p.Ala561=)
c.1424C= (p.Ala475=)
c.1304C= (p.Ala435=)
c.1678C=
c.920C= (p.Ala307=)
c.1301C= (p.Ala434=)
c.1043C= (p.Ala348=)
c.145C=
c.904C=
n.1574C=
n.1541C=
19g.11113600C>GCA404085939LDLRc.1682C>G (p.Ala561Gly)
c.1424C>G (p.Ala475Gly)
c.1304C>G (p.Ala435Gly)
c.1678C>G
c.920C>G (p.Ala307Gly)
c.1301C>G (p.Ala434Gly)
c.1043C>G (p.Ala348Gly)
c.145C>G
c.904C>G
n.1574C>G
n.1541C>G
19g.11113600C>TCA10585447LDLRc.1682C>T (p.Ala561Val)
c.1424C>T (p.Ala475Val)
c.1304C>T (p.Ala435Val)
c.1678C>T
c.920C>T (p.Ala307Val)
c.1301C>T (p.Ala434Val)
c.1043C>T (p.Ala348Val)
c.145C>T
c.904C>T
n.1574C>T
n.1541C>T
 ClinVar dbSNP gnomAD v4
19g.11113604dupCA10577093LDLRc.1686dup (p.Asp563ArgfsTer?)
c.1428dup (p.Asp477ArgfsTer?)
c.1308dup (p.Asp437ArgfsTer?)
c.1682dup
c.924dup (p.Asp309ArgfsTer?)
c.1305dup (p.Asp436ArgfsTer?)
c.1047dup (p.Asp350ArgfsTer?)
c.149dup
c.908dup
n.1578dup
n.1545dup
 ClinVar dbSNP
19g.11113601C>ACA505743095LDLRc.1683C>A (p.Ala561=)
c.1425C>A (p.Ala475=)
c.1305C>A (p.Ala435=)
c.1679C>A
c.921C>A (p.Ala307=)
c.1302C>A (p.Ala434=)
c.1044C>A (p.Ala348=)
c.146C>A
c.905C>A
n.1575C>A
n.1542C>A
19g.11113601C>GCA505743096LDLRc.1683C>G (p.Ala561=)
c.1425C>G (p.Ala475=)
c.1305C>G (p.Ala435=)
c.1679C>G
c.921C>G (p.Ala307=)
c.1302C>G (p.Ala434=)
c.1044C>G (p.Ala348=)
c.146C>G
c.905C>G
n.1575C>G
n.1542C>G
 ClinVar dbSNP gnomAD v4
19g.11113601C>TCA505743097LDLRc.1683C>T (p.Ala561=)
c.1425C>T (p.Ala475=)
c.1305C>T (p.Ala435=)
c.1679C>T
c.921C>T (p.Ala307=)
c.1302C>T (p.Ala434=)
c.1044C>T (p.Ala348=)
c.146C>T
c.905C>T
n.1575C>T
n.1542C>T
19g.11113602C>ACA404085950LDLRc.1684C>A (p.Pro562Thr)
c.1426C>A (p.Pro476Thr)
c.1306C>A (p.Pro436Thr)
c.1680C>A
c.922C>A (p.Pro308Thr)
c.1303C>A (p.Pro435Thr)
c.1045C>A (p.Pro349Thr)
c.147C>A
c.906C>A
n.1576C>A
n.1543C>A
19g.11113602C=CA2322771928LDLRc.1684C= (p.Pro562=)
c.1426C= (p.Pro476=)
c.1306C= (p.Pro436=)
c.1680C=
c.922C= (p.Pro308=)
c.1303C= (p.Pro435=)
c.1045C= (p.Pro349=)
c.147C=
c.906C=
n.1576C=
n.1543C=
19g.11113602C>GCA404085953LDLRc.1684C>G (p.Pro562Ala)
c.1426C>G (p.Pro476Ala)
c.1306C>G (p.Pro436Ala)
c.1680C>G
c.922C>G (p.Pro308Ala)
c.1303C>G (p.Pro435Ala)
c.1045C>G (p.Pro349Ala)
c.147C>G
c.906C>G
n.1576C>G
n.1543C>G
19g.11113602C>TCA10585448LDLRc.1684C>T (p.Pro562Ser)
c.1426C>T (p.Pro476Ser)
c.1306C>T (p.Pro436Ser)
c.1680C>T
c.922C>T (p.Pro308Ser)
c.1303C>T (p.Pro435Ser)
c.1045C>T (p.Pro349Ser)
c.147C>T
c.906C>T
n.1576C>T
n.1543C>T
 ClinVar dbSNP COSMIC
19g.11113603C>ACA404085959LDLRc.1685C>A (p.Pro562His)
c.1427C>A (p.Pro476His)
c.1307C>A (p.Pro436His)
c.1681C>A
c.923C>A (p.Pro308His)
c.1304C>A (p.Pro435His)
c.1046C>A (p.Pro349His)
c.148C>A
c.907C>A
n.1577C>A
n.1544C>A
19g.11113603C=CA2322771929LDLRc.1685C= (p.Pro562=)
c.1427C= (p.Pro476=)
c.1307C= (p.Pro436=)
c.1681C=
c.923C= (p.Pro308=)
c.1304C= (p.Pro435=)
c.1046C= (p.Pro349=)
c.148C=
c.907C=
n.1577C=
n.1544C=
19g.11113603C>GCA404085961LDLRc.1685C>G (p.Pro562Arg)
c.1427C>G (p.Pro476Arg)
c.1307C>G (p.Pro436Arg)
c.1681C>G
c.923C>G (p.Pro308Arg)
c.1304C>G (p.Pro435Arg)
c.1046C>G (p.Pro349Arg)
c.148C>G
c.907C>G
n.1577C>G
n.1544C>G
 ClinVar
19g.11113603C>TCA404085964LDLRc.1685C>T (p.Pro562Leu)
c.1427C>T (p.Pro476Leu)
c.1307C>T (p.Pro436Leu)
c.1681C>T
c.923C>T (p.Pro308Leu)
c.1304C>T (p.Pro435Leu)
c.1046C>T (p.Pro349Leu)
c.148C>T
c.907C>T
n.1577C>T
n.1544C>T
 ClinVar dbSNP
19g.11113604C>ACA505743101LDLRc.1686C>A (p.Pro562=)
c.1428C>A (p.Pro476=)
c.1308C>A (p.Pro436=)
c.1682C>A
c.924C>A (p.Pro308=)
c.1305C>A (p.Pro435=)
c.1047C>A (p.Pro349=)
c.149C>A
c.908C>A
n.1578C>A
n.1545C>A
19g.11113604C=CA2322771930LDLRc.1686C= (p.Pro562=)
c.1428C= (p.Pro476=)
c.1308C= (p.Pro436=)
c.1682C=
c.924C= (p.Pro308=)
c.1305C= (p.Pro435=)
c.1047C= (p.Pro349=)
c.149C=
c.908C=
n.1578C=
n.1545C=
19g.11113604C>GCA505743102LDLRc.1686C>G (p.Pro562=)
c.1428C>G (p.Pro476=)
c.1308C>G (p.Pro436=)
c.1682C>G
c.924C>G (p.Pro308=)
c.1305C>G (p.Pro435=)
c.1047C>G (p.Pro349=)
c.149C>G
c.908C>G
n.1578C>G
n.1545C>G
 ClinVar dbSNP gnomAD v4
19g.11113604C>TCA034352LDLRc.1686C>T (p.Pro562=)
c.1428C>T (p.Pro476=)
c.1308C>T (p.Pro436=)
c.1682C>T
c.924C>T (p.Pro308=)
c.1305C>T (p.Pro435=)
c.1047C>T (p.Pro349=)
c.149C>T
c.908C>T
n.1578C>T
n.1545C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched