Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.11117913_11122676delCA10576322LDLRc.2103+915_2399-498del
c.1705+1701_*210-498del
c.1725+915_2021-498del
c.1845+915_2141-498del
c.2099+915_2395-498del
c.1341+915_1637-498del
c.1722+915_2018-498del
c.1464+915_1607-498del
c.1464+915_1760-498del
n.1855+1701_2151-498del
n.1962+915_2475-498del
n.1822+1701_2118-498del
 ClinVar
19g.11118198_11122020delCA2573050614LDLRc.2103+1200_2399-1154del
c.1706-1894_*210-1154del
c.1725+1200_2021-1154del
c.1845+1200_2141-1154del
c.2099+1200_2395-1154del
c.1341+1200_1637-1154del
c.1722+1200_2018-1154del
c.1464+1200_1607-1154del
c.1464+1200_1760-1154del
n.1856-1894_2151-1154del
n.1962+1200_2475-1154del
n.1823-1894_2118-1154del
19g.11120093_11123345delCA2695202625LDLRc.2105_2569+1del
c.1707_*380+1del
c.1727_2191+1del
c.1847_2311+1del
c.2101_2565+1del
c.1343_1807+1del
c.1724_2188+1del
c.1466_1777+1del
c.1466_1930+1del
n.1857_2321+1del
n.1964_2645+1del
n.1824_2288+1del
19g.11120091_11120523delCA658824574LDLRc.2104-1_2398+1del
c.1706-1_*209+1del
c.1726-1_2020+1del
c.1846-1_2140+1del
c.2100-1_2394+1del
c.1342-1_1636+1del
c.1723-1_2017+1del
c.1465-1_1606+290del
c.1465-1_1759+1del
n.1856-1_2150+1del
n.1963-1_2258del
n.1823-1_2117+1del
 ClinVar
19g.11120091_11123345delCA658824575LDLRc.2104-1_2569+1del
c.1706-1_*380+1del
c.1726-1_2191+1del
c.1846-1_2311+1del
c.2100-1_2565+1del
c.1342-1_1807+1del
c.1723-1_2188+1del
c.1465-1_1777+1del
c.1465-1_1930+1del
n.1856-1_2321+1del
n.1963-1_2645+1del
n.1823-1_2288+1del
 ClinVar
19g.11120137_11124406delCA250475LDLRc.2149_2569+1062del
c.1751_*380+1062del
c.1771_2191+1062del
c.1891_2311+1062del
c.2145_2565+1062del
c.1387_1807+1062del
c.1768_2188+1062del
c.1510_1777+1062del
c.1510_1930+1062del
n.1901_2321+1062del
n.2008_2645+1062del
n.1868_2288+1062del
 ClinVar
19g.11120137_11124409delCA916081229LDLRc.2149_2569+1065del
c.1751_*380+1065del
c.1771_2191+1065del
c.1891_2311+1065del
c.2145_2565+1065del
c.1387_1807+1065del
c.1768_2188+1065del
c.1510_1777+1065del
c.1510_1930+1065del
n.1901_2321+1065del
n.2008_2645+1065del
n.1868_2288+1065del
 ClinVar
19g.11120137_11124409delinsCTCAGCACTTTGGGCA2573050615LDLRc.2149_2569+1065delinsCTCAGCACTTTGGG
c.1751_*380+1065delinsCTCAGCACTTTGGG
c.1771_2191+1065delinsCTCAGCACTTTGGG
c.1891_2311+1065delinsCTCAGCACTTTGGG
c.2145_2565+1065delinsCTCAGCACTTTGGG
c.1387_1807+1065delinsCTCAGCACTTTGGG
c.1768_2188+1065delinsCTCAGCACTTTGGG
c.1510_1777+1065delinsCTCAGCACTTTGGG
c.1510_1930+1065delinsCTCAGCACTTTGGG
n.1901_2321+1065delinsCTCAGCACTTTGGG
n.2008_2645+1065delinsCTCAGCACTTTGGG
n.1868_2288+1065delinsCTCAGCACTTTGGG
19g.11120317_11120388delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAGCA2322775493LDLRc.2246-53_2264delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
c.*57-53_*75delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
c.1868-53_1886delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
c.1988-53_2006delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
c.2242-53_2260delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
c.1484-53_1502delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
c.1865-53_1883delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
c.1606+84_1606+155delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG (n.1606+84_1606+155delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG)
c.569-53_587delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
c.1607-53_1625delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
n.1998-53_2016delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
n.2105-53_2123delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
n.1965-53_1983delinsCTGGTATAGCTGATGATCTCGTTCCTGCCCTGACTCCGCTTCTTCTGCCCCAGGAGTGAACTGGTGTGAGAG
19g.11120318_11120388delCA10585711LDLRc.2246-52_2264del
c.*57-52_*75del
c.1868-52_1886del
c.1988-52_2006del
c.2242-52_2260del
c.1484-52_1502del
c.1865-52_1883del
c.1606+85_1606+155del (n.1606+85_1606+155del)
c.569-52_587del
c.1607-52_1625del
n.1998-52_2016del
n.2105-52_2123del
n.1965-52_1983del
 ClinVar dbSNP
19g.11120320_11120389delCA2497030039LDLRc.2246-50_2265del
c.*57-50_*76del
c.1868-50_1887del
c.1988-50_2007del
c.2242-50_2261del
c.1484-50_1503del
c.1865-50_1884del
c.1606+87_1606+156del (n.1606+87_1606+156del)
c.569-50_588del
c.1607-50_1626del
n.1998-50_2017del
n.2105-50_2124del
n.1965-50_1984del
 ClinVar
19g.11120370_11121586delCA913189004LDLRc.2246_2398+1064del
c.*57_*209+1064del
c.1868_2020+1064del
c.1988_2140+1064del
c.2242_2394+1064del
c.1484_1636+1064del
c.1865_2017+1064del
c.1606+137_1606+1353del (n.1606+137_1606+1353del)
c.1607_1759+1064del
n.1998_2150+1064del
n.2105_2474+847del
n.1965_2117+1064del
19g.11120371A=CA2322775527LDLRc.2247A= (p.Gly749=)
c.*58A= (n.*58A=)
c.1869A= (p.Gly623=)
c.1989A= (p.Gly663=)
c.2243A=
c.1485A= (p.Gly495=)
c.1866A= (p.Gly622=)
c.1606+138A= (n.1606+138A=)
c.570A=
c.1608A= (p.Gly536=)
n.1999A=
n.2106A=
n.1966A=
19g.11120371A>CCA505743439LDLRc.2247A>C (p.Gly749=)
c.*58A>C (n.*58A>C)
c.1869A>C (p.Gly623=)
c.1989A>C (p.Gly663=)
c.2243A>C
c.1485A>C (p.Gly495=)
c.1866A>C (p.Gly622=)
c.1606+138A>C (n.1606+138A>C)
c.570A>C
c.1608A>C (p.Gly536=)
n.1999A>C
n.2106A>C
n.1966A>C
19g.11120371A>GCA505743440LDLRc.2247A>G (p.Gly749=)
c.*58A>G (n.*58A>G)
c.1869A>G (p.Gly623=)
c.1989A>G (p.Gly663=)
c.2243A>G
c.1485A>G (p.Gly495=)
c.1866A>G (p.Gly622=)
c.1606+138A>G (n.1606+138A>G)
c.570A>G
c.1608A>G (p.Gly536=)
n.1999A>G
n.2106A>G
n.1966A>G
 dbSNP gnomAD v2 gnomAD v4
19g.11120371A>TCA505743441LDLRc.2247A>T (p.Gly749=)
c.*58A>T (n.*58A>T)
c.1869A>T (p.Gly623=)
c.1989A>T (p.Gly663=)
c.2243A>T
c.1485A>T (p.Gly495=)
c.1866A>T (p.Gly622=)
c.1606+138A>T (n.1606+138A>T)
c.570A>T
c.1608A>T (p.Gly536=)
n.1999A>T
n.2106A>T
n.1966A>T
19g.11120372G>ACA10585715LDLRc.2248G>A (p.Val750Met)
c.*59G>A (n.*59G>A)
c.1870G>A (p.Val624Met)
c.1990G>A (p.Val664Met)
c.2244G>A
c.1486G>A (p.Val496Met)
c.1867G>A (p.Val623Met)
c.1606+139G>A (n.1606+139G>A)
c.571G>A
c.1609G>A (p.Val537Met)
n.2000G>A
n.2107G>A
n.1967G>A
 ClinVar dbSNP
19g.11120372G>CCA404093405LDLRc.2248G>C (p.Val750Leu)
c.*59G>C (n.*59G>C)
c.1870G>C (p.Val624Leu)
c.1990G>C (p.Val664Leu)
c.2244G>C
c.1486G>C (p.Val496Leu)
c.1867G>C (p.Val623Leu)
c.1606+139G>C (n.1606+139G>C)
c.571G>C
c.1609G>C (p.Val537Leu)
n.2000G>C
n.2107G>C
n.1967G>C
19g.11120372G=CA2322775528LDLRc.2248G= (p.Val750=)
c.*59G= (n.*59G=)
c.1870G= (p.Val624=)
c.1990G= (p.Val664=)
c.2244G=
c.1486G= (p.Val496=)
c.1867G= (p.Val623=)
c.1606+139G= (n.1606+139G=)
c.571G=
c.1609G= (p.Val537=)
n.2000G=
n.2107G=
n.1967G=
19g.11120372G>TCA404093403LDLRc.2248G>T (p.Val750Leu)
c.*59G>T (n.*59G>T)
c.1870G>T (p.Val624Leu)
c.1990G>T (p.Val664Leu)
c.2244G>T
c.1486G>T (p.Val496Leu)
c.1867G>T (p.Val623Leu)
c.1606+139G>T (n.1606+139G>T)
c.571G>T
c.1609G>T (p.Val537Leu)
n.2000G>T
n.2107G>T
n.1967G>T
19g.11120373T>ACA404093407LDLRc.2249T>A (p.Val750Glu)
c.*60T>A (n.*60T>A)
c.1871T>A (p.Val624Glu)
c.1991T>A (p.Val664Glu)
c.2245T>A
c.1487T>A (p.Val496Glu)
c.1868T>A (p.Val623Glu)
c.1606+140T>A (n.1606+140T>A)
c.572T>A
c.1610T>A (p.Val537Glu)
n.2001T>A
n.2108T>A
n.1968T>A
19g.11120373T>CCA404093409LDLRc.2249T>C (p.Val750Ala)
c.*60T>C (n.*60T>C)
c.1871T>C (p.Val624Ala)
c.1991T>C (p.Val664Ala)
c.2245T>C
c.1487T>C (p.Val496Ala)
c.1868T>C (p.Val623Ala)
c.1606+140T>C (n.1606+140T>C)
c.572T>C
c.1610T>C (p.Val537Ala)
n.2001T>C
n.2108T>C
n.1968T>C
19g.11120373T>GCA404093411LDLRc.2249T>G (p.Val750Gly)
c.*60T>G (n.*60T>G)
c.1871T>G (p.Val624Gly)
c.1991T>G (p.Val664Gly)
c.2245T>G
c.1487T>G (p.Val496Gly)
c.1868T>G (p.Val623Gly)
c.1606+140T>G (n.1606+140T>G)
c.572T>G
c.1610T>G (p.Val537Gly)
n.2001T>G
n.2108T>G
n.1968T>G
19g.11120373dupCA2813590057LDLRc.2249dup (p.Asn751GlufsTer4)
c.*60dup (n.*60dup)
c.1871dup (p.Asn625GlufsTer4)
c.1991dup (p.Asn665GlufsTer4)
c.2245dup
c.1487dup (p.Asn497GlufsTer4)
c.1868dup (p.Asn624GlufsTer4)
c.1606+140dup (n.1606+140dup)
c.572dup
c.1610dup (p.Asn538GlufsTer4)
n.2001dup
n.2108dup
n.1968dup
19g.11120374G>ACA505743444LDLRc.2250G>A (p.Val750=)
c.*61G>A (n.*61G>A)
c.1872G>A (p.Val624=)
c.1992G>A (p.Val664=)
c.2246G>A
c.1488G>A (p.Val496=)
c.1869G>A (p.Val623=)
c.1606+141G>A (n.1606+141G>A)
c.573G>A
c.1611G>A (p.Val537=)
n.2002G>A
n.2109G>A
n.1969G>A
19g.11120374G>CCA505743445LDLRc.2250G>C (p.Val750=)
c.*61G>C (n.*61G>C)
c.1872G>C (p.Val624=)
c.1992G>C (p.Val664=)
c.2246G>C
c.1488G>C (p.Val496=)
c.1869G>C (p.Val623=)
c.1606+141G>C (n.1606+141G>C)
c.573G>C
c.1611G>C (p.Val537=)
n.2002G>C
n.2109G>C
n.1969G>C
19g.11120374G>TCA505743446LDLRc.2250G>T (p.Val750=)
c.*61G>T (n.*61G>T)
c.1872G>T (p.Val624=)
c.1992G>T (p.Val664=)
c.2246G>T
c.1488G>T (p.Val496=)
c.1869G>T (p.Val623=)
c.1606+141G>T (n.1606+141G>T)
c.573G>T
c.1611G>T (p.Val537=)
n.2002G>T
n.2109G>T
n.1969G>T
19g.11120375A=CA2322775530LDLRc.2251A= (p.Asn751=)
c.*62A= (n.*62A=)
c.1873A= (p.Asn625=)
c.1993A= (p.Asn665=)
c.2247A=
c.1489A= (p.Asn497=)
c.1870A= (p.Asn624=)
c.1606+142A= (n.1606+142A=)
c.574A=
c.1612A= (p.Asn538=)
n.2003A=
n.2110A=
n.1970A=
19g.11120375A>CCA404093412LDLRc.2251A>C (p.Asn751His)
c.*62A>C (n.*62A>C)
c.1873A>C (p.Asn625His)
c.1993A>C (p.Asn665His)
c.2247A>C
c.1489A>C (p.Asn497His)
c.1870A>C (p.Asn624His)
c.1606+142A>C (n.1606+142A>C)
c.574A>C
c.1612A>C (p.Asn538His)
n.2003A>C
n.2110A>C
n.1970A>C
19g.11120375A>GCA404093414LDLRc.2251A>G (p.Asn751Asp)
c.*62A>G (n.*62A>G)
c.1873A>G (p.Asn625Asp)
c.1993A>G (p.Asn665Asp)
c.2247A>G
c.1489A>G (p.Asn497Asp)
c.1870A>G (p.Asn624Asp)
c.1606+142A>G (n.1606+142A>G)
c.574A>G
c.1612A>G (p.Asn538Asp)
n.2003A>G
n.2110A>G
n.1970A>G
19g.11120375A>TCA404093415LDLRc.2251A>T (p.Asn751Tyr)
c.*62A>T (n.*62A>T)
c.1873A>T (p.Asn625Tyr)
c.1993A>T (p.Asn665Tyr)
c.2247A>T
c.1489A>T (p.Asn497Tyr)
c.1870A>T (p.Asn624Tyr)
c.1606+142A>T (n.1606+142A>T)
c.574A>T
c.1612A>T (p.Asn538Tyr)
n.2003A>T
n.2110A>T
n.1970A>T
 ClinVar dbSNP
19g.11120375_11120392delinsAACTGGTGTGAGAGGACCCA2322775529LDLRc.2251_2268delinsAACTGGTGTGAGAGGACC (p.Asn751=)
c.*62_*79delinsAACTGGTGTGAGAGGACC (n.*62_*79delinsAACTGGTGTGAGAGGACC)
c.1873_1890delinsAACTGGTGTGAGAGGACC (p.Asn625=)
c.1993_2010delinsAACTGGTGTGAGAGGACC (p.Asn665=)
c.2247_2264delinsAACTGGTGTGAGAGGACC
c.1489_1506delinsAACTGGTGTGAGAGGACC (p.Asn497=)
c.1870_1887delinsAACTGGTGTGAGAGGACC (p.Asn624=)
c.1606+142_1606+159delinsAACTGGTGTGAGAGGACC (n.1606+142_1606+159delinsAACTGGTGTGAGAGGACC)
c.574_591delinsAACTGGTGTGAGAGGACC
c.1612_1629delinsAACTGGTGTGAGAGGACC (p.Asn538=)
n.2003_2020delinsAACTGGTGTGAGAGGACC
n.2110_2127delinsAACTGGTGTGAGAGGACC
n.1970_1987delinsAACTGGTGTGAGAGGACC
19g.11120376A>CCA404093418LDLRc.2252A>C (p.Asn751Thr)
c.*63A>C (n.*63A>C)
c.1874A>C (p.Asn625Thr)
c.1994A>C (p.Asn665Thr)
c.2248A>C
c.1490A>C (p.Asn497Thr)
c.1871A>C (p.Asn624Thr)
c.1606+143A>C (n.1606+143A>C)
c.575A>C
c.1613A>C (p.Asn538Thr)
n.2004A>C
n.2111A>C
n.1971A>C
19g.11120376A>GCA404093419LDLRc.2252A>G (p.Asn751Ser)
c.*63A>G (n.*63A>G)
c.1874A>G (p.Asn625Ser)
c.1994A>G (p.Asn665Ser)
c.2248A>G
c.1490A>G (p.Asn497Ser)
c.1871A>G (p.Asn624Ser)
c.1606+143A>G (n.1606+143A>G)
c.575A>G
c.1613A>G (p.Asn538Ser)
n.2004A>G
n.2111A>G
n.1971A>G
19g.11120376A>TCA404093421LDLRc.2252A>T (p.Asn751Ile)
c.*63A>T (n.*63A>T)
c.1874A>T (p.Asn625Ile)
c.1994A>T (p.Asn665Ile)
c.2248A>T
c.1490A>T (p.Asn497Ile)
c.1871A>T (p.Asn624Ile)
c.1606+143A>T (n.1606+143A>T)
c.575A>T
c.1613A>T (p.Asn538Ile)
n.2004A>T
n.2111A>T
n.1971A>T
19g.11120378_11120394delCA10585716LDLRc.2254_2270del (p.Trp752ProfsTer?)
c.*65_*81del (n.*65_*81del)
c.1876_1892del (p.Trp626ProfsTer?)
c.1996_2012del (p.Trp666ProfsTer?)
c.2250_2266del
c.1492_1508del (p.Trp498ProfsTer?)
c.1873_1889del (p.Trp625ProfsTer?)
c.1606+145_1606+161del (n.1606+145_1606+161del)
c.577_593del
c.1615_1631del (p.Trp539ProfsTer?)
n.2006_2022del
n.2113_2129del
n.1973_1989del
 ClinVar dbSNP
19g.11120377C>ACA404093424LDLRc.2253C>A (p.Asn751Lys)
c.*64C>A (n.*64C>A)
c.1875C>A (p.Asn625Lys)
c.1995C>A (p.Asn665Lys)
c.2249C>A
c.1491C>A (p.Asn497Lys)
c.1872C>A (p.Asn624Lys)
c.1606+144C>A (n.1606+144C>A)
c.576C>A
c.1614C>A (p.Asn538Lys)
n.2005C>A
n.2112C>A
n.1972C>A
19g.11120377C=CA2322775531LDLRc.2253C= (p.Asn751=)
c.*64C= (n.*64C=)
c.1875C= (p.Asn625=)
c.1995C= (p.Asn665=)
c.2249C=
c.1491C= (p.Asn497=)
c.1872C= (p.Asn624=)
c.1606+144C= (n.1606+144C=)
c.576C=
c.1614C= (p.Asn538=)
n.2005C=
n.2112C=
n.1972C=
19g.11120377C>GCA404093425LDLRc.2253C>G (p.Asn751Lys)
c.*64C>G (n.*64C>G)
c.1875C>G (p.Asn625Lys)
c.1995C>G (p.Asn665Lys)
c.2249C>G
c.1491C>G (p.Asn497Lys)
c.1872C>G (p.Asn624Lys)
c.1606+144C>G (n.1606+144C>G)
c.576C>G
c.1614C>G (p.Asn538Lys)
n.2005C>G
n.2112C>G
n.1972C>G
19g.11120377C>TCA505743449LDLRc.2253C>T (p.Asn751=)
c.*64C>T (n.*64C>T)
c.1875C>T (p.Asn625=)
c.1995C>T (p.Asn665=)
c.2249C>T
c.1491C>T (p.Asn497=)
c.1872C>T (p.Asn624=)
c.1606+144C>T (n.1606+144C>T)
c.576C>T
c.1614C>T (p.Asn538=)
n.2005C>T
n.2112C>T
n.1972C>T
 ClinVar dbSNP gnomAD v4
19g.11120377_11120383dupCA2573050618LDLRc.2253_2259dup (p.Glu754LeufsTer3)
c.*64_*70dup (n.*64_*70dup)
c.1875_1881dup (p.Glu628LeufsTer3)
c.1995_2001dup (p.Glu668LeufsTer3)
c.2249_2255dup
c.1491_1497dup (p.Glu500LeufsTer3)
c.1872_1878dup (p.Glu627LeufsTer3)
c.1606+144_1606+150dup (n.1606+144_1606+150dup)
c.576_582dup
c.1614_1620dup (p.Glu541LeufsTer3)
n.2005_2011dup
n.2112_2118dup
n.1972_1978dup
19g.11120378T>ACA404093429LDLRc.2254T>A (p.Trp752Arg)
c.*65T>A (n.*65T>A)
c.1876T>A (p.Trp626Arg)
c.1996T>A (p.Trp666Arg)
c.2250T>A
c.1492T>A (p.Trp498Arg)
c.1873T>A (p.Trp625Arg)
c.1606+145T>A (n.1606+145T>A)
c.577T>A
c.1615T>A (p.Trp539Arg)
n.2006T>A
n.2113T>A
n.1973T>A
19g.11120378T>CCA404093431LDLRc.2254T>C (p.Trp752Arg)
c.*65T>C (n.*65T>C)
c.1876T>C (p.Trp626Arg)
c.1996T>C (p.Trp666Arg)
c.2250T>C
c.1492T>C (p.Trp498Arg)
c.1873T>C (p.Trp625Arg)
c.1606+145T>C (n.1606+145T>C)
c.577T>C
c.1615T>C (p.Trp539Arg)
n.2006T>C
n.2113T>C
n.1973T>C
19g.11120378T>GCA404093428LDLRc.2254T>G (p.Trp752Gly)
c.*65T>G (n.*65T>G)
c.1876T>G (p.Trp626Gly)
c.1996T>G (p.Trp666Gly)
c.2250T>G
c.1492T>G (p.Trp498Gly)
c.1873T>G (p.Trp625Gly)
c.1606+145T>G (n.1606+145T>G)
c.577T>G
c.1615T>G (p.Trp539Gly)
n.2006T>G
n.2113T>G
n.1973T>G
19g.11120378_11120379delinsTGCA2322775532LDLRc.2254_2255delinsTG (p.Trp752=)
c.*65_*66delinsTG (n.*65_*66delinsTG)
c.1876_1877delinsTG (p.Trp626=)
c.1996_1997delinsTG (p.Trp666=)
c.2250_2251delinsTG
c.1492_1493delinsTG (p.Trp498=)
c.1873_1874delinsTG (p.Trp625=)
c.1606+145_1606+146delinsTG (n.1606+145_1606+146delinsTG)
c.577_578delinsTG
c.1615_1616delinsTG (p.Trp539=)
n.2006_2007delinsTG
n.2113_2114delinsTG
n.1973_1974delinsTG
19g.11120379G>ACA10585717LDLRc.2255G>A (p.Trp752Ter)
c.*66G>A (n.*66G>A)
c.1877G>A (p.Trp626Ter)
c.1997G>A (p.Trp666Ter)
c.2251G>A
c.1493G>A (p.Trp498Ter)
c.1874G>A (p.Trp625Ter)
c.1606+146G>A (n.1606+146G>A)
c.578G>A
c.1616G>A (p.Trp539Ter)
n.2007G>A
n.2114G>A
n.1974G>A
 ClinVar dbSNP
19g.11120379G>CCA404093434LDLRc.2255G>C (p.Trp752Ser)
c.*66G>C (n.*66G>C)
c.1877G>C (p.Trp626Ser)
c.1997G>C (p.Trp666Ser)
c.2251G>C
c.1493G>C (p.Trp498Ser)
c.1874G>C (p.Trp625Ser)
c.1606+146G>C (n.1606+146G>C)
c.578G>C
c.1616G>C (p.Trp539Ser)
n.2007G>C
n.2114G>C
n.1974G>C
19g.11120379G=CA2322775534LDLRc.2255G= (p.Trp752=)
c.*66G= (n.*66G=)
c.1877G= (p.Trp626=)
c.1997G= (p.Trp666=)
c.2251G=
c.1493G= (p.Trp498=)
c.1874G= (p.Trp625=)
c.1606+146G= (n.1606+146G=)
c.578G=
c.1616G= (p.Trp539=)
n.2007G=
n.2114G=
n.1974G=
19g.11120379G>TCA10585718LDLRc.2255G>T (p.Trp752Leu)
c.*66G>T (n.*66G>T)
c.1877G>T (p.Trp626Leu)
c.1997G>T (p.Trp666Leu)
c.2251G>T
c.1493G>T (p.Trp498Leu)
c.1874G>T (p.Trp625Leu)
c.1606+146G>T (n.1606+146G>T)
c.578G>T
c.1616G>T (p.Trp539Leu)
n.2007G>T
n.2114G>T
n.1974G>T
 ClinVar dbSNP
19g.11120380delCA10585720LDLRc.2256del (p.Trp752CysfsTer7)
c.*67del (n.*67del)
c.1878del (p.Trp626CysfsTer7)
c.1998del (p.Trp666CysfsTer7)
c.2252del
c.1494del (p.Trp498CysfsTer7)
c.1875del (p.Trp625CysfsTer7)
c.1606+147del (n.1606+147del)
c.579del
c.1617del (p.Trp539CysfsTer7)
n.2008del
n.2115del
n.1975del
 ClinVar dbSNP
19g.11120379_11120381delinsGGTCA2322775533LDLRc.2255_2257delinsGGT (p.Trp752=)
c.*66_*68delinsGGT (n.*66_*68delinsGGT)
c.1877_1879delinsGGT (p.Trp626=)
c.1997_1999delinsGGT (p.Trp666=)
c.2251_2253delinsGGT
c.1493_1495delinsGGT (p.Trp498=)
c.1874_1876delinsGGT (p.Trp625=)
c.1606+146_1606+148delinsGGT (n.1606+146_1606+148delinsGGT)
c.578_580delinsGGT
c.1616_1618delinsGGT (p.Trp539=)
n.2007_2009delinsGGT
n.2114_2116delinsGGT
n.1974_1976delinsGGT
19g.11120380G>ACA10585719LDLRc.2256G>A (p.Trp752Ter)
c.*67G>A (n.*67G>A)
c.1878G>A (p.Trp626Ter)
c.1998G>A (p.Trp666Ter)
c.2252G>A
c.1494G>A (p.Trp498Ter)
c.1875G>A (p.Trp625Ter)
c.1606+147G>A (n.1606+147G>A)
c.579G>A
c.1617G>A (p.Trp539Ter)
n.2008G>A
n.2115G>A
n.1975G>A
 ClinVar dbSNP
19g.11120380G>CCA038098LDLRc.2256G>C (p.Trp752Cys)
c.*67G>C (n.*67G>C)
c.1878G>C (p.Trp626Cys)
c.1998G>C (p.Trp666Cys)
c.2252G>C
c.1494G>C (p.Trp498Cys)
c.1875G>C (p.Trp625Cys)
c.1606+147G>C (n.1606+147G>C)
c.579G>C
c.1617G>C (p.Trp539Cys)
n.2008G>C
n.2115G>C
n.1975G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120380G=CA2322775535LDLRc.2256G= (p.Trp752=)
c.*67G= (n.*67G=)
c.1878G= (p.Trp626=)
c.1998G= (p.Trp666=)
c.2252G=
c.1494G= (p.Trp498=)
c.1875G= (p.Trp625=)
c.1606+147G= (n.1606+147G=)
c.579G=
c.1617G= (p.Trp539=)
n.2008G=
n.2115G=
n.1975G=
19g.11120380G>TCA404093439LDLRc.2256G>T (p.Trp752Cys)
c.*67G>T (n.*67G>T)
c.1878G>T (p.Trp626Cys)
c.1998G>T (p.Trp666Cys)
c.2252G>T
c.1494G>T (p.Trp498Cys)
c.1875G>T (p.Trp625Cys)
c.1606+147G>T (n.1606+147G>T)
c.579G>T
c.1617G>T (p.Trp539Cys)
n.2008G>T
n.2115G>T
n.1975G>T
19g.11120383_11120384delCA913189005LDLRc.2259_2260del (p.Cys753Ter)
c.*70_*71del (n.*70_*71del)
c.1881_1882del (p.Cys627Ter)
c.2001_2002del (p.Cys667Ter)
c.2255_2256del
c.1497_1498del (p.Cys499Ter)
c.1878_1879del (p.Cys626Ter)
c.1606+150_1606+151del (n.1606+150_1606+151del)
c.582_583del
c.1620_1621del (p.Cys540Ter)
n.2011_2012del
n.2118_2119del
n.1978_1979del
 ClinVar dbSNP
19g.11120381T>ACA10585721LDLRc.2257T>A (p.Cys753Ser)
c.*68T>A (n.*68T>A)
c.1879T>A (p.Cys627Ser)
c.1999T>A (p.Cys667Ser)
c.2253T>A
c.1495T>A (p.Cys499Ser)
c.1876T>A (p.Cys626Ser)
c.1606+148T>A (n.1606+148T>A)
c.580T>A
c.1618T>A (p.Cys540Ser)
n.2009T>A
n.2116T>A
n.1976T>A
 ClinVar dbSNP
19g.11120381T>CCA10585722LDLRc.2257T>C (p.Cys753Arg)
c.*68T>C (n.*68T>C)
c.1879T>C (p.Cys627Arg)
c.1999T>C (p.Cys667Arg)
c.2253T>C
c.1495T>C (p.Cys499Arg)
c.1876T>C (p.Cys626Arg)
c.1606+148T>C (n.1606+148T>C)
c.580T>C
c.1618T>C (p.Cys540Arg)
n.2009T>C
n.2116T>C
n.1976T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11120381T>GCA404093443LDLRc.2257T>G (p.Cys753Gly)
c.*68T>G (n.*68T>G)
c.1879T>G (p.Cys627Gly)
c.1999T>G (p.Cys667Gly)
c.2253T>G
c.1495T>G (p.Cys499Gly)
c.1876T>G (p.Cys626Gly)
c.1606+148T>G (n.1606+148T>G)
c.580T>G
c.1618T>G (p.Cys540Gly)
n.2009T>G
n.2116T>G
n.1976T>G
 ClinVar
19g.11120381T=CA2322775536LDLRc.2257T= (p.Cys753=)
c.*68T= (n.*68T=)
c.1879T= (p.Cys627=)
c.1999T= (p.Cys667=)
c.2253T=
c.1495T= (p.Cys499=)
c.1876T= (p.Cys626=)
c.1606+148T= (n.1606+148T=)
c.580T=
c.1618T= (p.Cys540=)
n.2009T=
n.2116T=
n.1976T=
19g.11120381_11120382delinsTGCA2322775537LDLRc.2257_2258delinsTG (p.Cys753=)
c.*68_*69delinsTG (n.*68_*69delinsTG)
c.1879_1880delinsTG (p.Cys627=)
c.1999_2000delinsTG (p.Cys667=)
c.2253_2254delinsTG
c.1495_1496delinsTG (p.Cys499=)
c.1876_1877delinsTG (p.Cys626=)
c.1606+148_1606+149delinsTG (n.1606+148_1606+149delinsTG)
c.580_581delinsTG
c.1618_1619delinsTG (p.Cys540=)
n.2009_2010delinsTG
n.2116_2117delinsTG
n.1976_1977delinsTG
19g.11120381_11120388delinsTGTGAGAGCA2322775538LDLRc.2257_2264delinsTGTGAGAG (p.Cys753=)
c.*68_*75delinsTGTGAGAG (n.*68_*75delinsTGTGAGAG)
c.1879_1886delinsTGTGAGAG (p.Cys627=)
c.1999_2006delinsTGTGAGAG (p.Cys667=)
c.2253_2260delinsTGTGAGAG
c.1495_1502delinsTGTGAGAG (p.Cys499=)
c.1876_1883delinsTGTGAGAG (p.Cys626=)
c.1606+148_1606+155delinsTGTGAGAG (n.1606+148_1606+155delinsTGTGAGAG)
c.580_587delinsTGTGAGAG
c.1618_1625delinsTGTGAGAG (p.Cys540=)
n.2009_2016delinsTGTGAGAG
n.2116_2123delinsTGTGAGAG
n.1976_1983delinsTGTGAGAG
19g.11120382delCA10585724LDLRc.2258del (p.Cys753LeufsTer6)
c.*69del (n.*69del)
c.1880del (p.Cys627LeufsTer6)
c.2000del (p.Cys667LeufsTer6)
c.2254del
c.1496del (p.Cys499LeufsTer6)
c.1877del (p.Cys626LeufsTer6)
c.1606+149del (n.1606+149del)
c.581del
c.1619del (p.Cys540LeufsTer6)
n.2010del
n.2117del
n.1977del
 ClinVar dbSNP
19g.11120382G>ACA023621LDLRc.2258G>A (p.Cys753Tyr)
c.*69G>A (n.*69G>A)
c.1880G>A (p.Cys627Tyr)
c.2000G>A (p.Cys667Tyr)
c.2254G>A
c.1496G>A (p.Cys499Tyr)
c.1877G>A (p.Cys626Tyr)
c.1606+149G>A (n.1606+149G>A)
c.581G>A
c.1619G>A (p.Cys540Tyr)
n.2010G>A
n.2117G>A
n.1977G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120382G>CCA404093449LDLRc.2258G>C (p.Cys753Ser)
c.*69G>C (n.*69G>C)
c.1880G>C (p.Cys627Ser)
c.2000G>C (p.Cys667Ser)
c.2254G>C
c.1496G>C (p.Cys499Ser)
c.1877G>C (p.Cys626Ser)
c.1606+149G>C (n.1606+149G>C)
c.581G>C
c.1619G>C (p.Cys540Ser)
n.2010G>C
n.2117G>C
n.1977G>C
19g.11120382G=CA2322775540LDLRc.2258G= (p.Cys753=)
c.*69G= (n.*69G=)
c.1880G= (p.Cys627=)
c.2000G= (p.Cys667=)
c.2254G=
c.1496G= (p.Cys499=)
c.1877G= (p.Cys626=)
c.1606+149G= (n.1606+149G=)
c.581G=
c.1619G= (p.Cys540=)
n.2010G=
n.2117G=
n.1977G=
19g.11120382G>TCA10585723LDLRc.2258G>T (p.Cys753Phe)
c.*69G>T (n.*69G>T)
c.1880G>T (p.Cys627Phe)
c.2000G>T (p.Cys667Phe)
c.2254G>T
c.1496G>T (p.Cys499Phe)
c.1877G>T (p.Cys626Phe)
c.1606+149G>T (n.1606+149G>T)
c.581G>T
c.1619G>T (p.Cys540Phe)
n.2010G>T
n.2117G>T
n.1977G>T
 ClinVar dbSNP
19g.11120382_11120383delinsGTCA2322775539LDLRc.2258_2259delinsGT (p.Cys753=)
c.*69_*70delinsGT (n.*69_*70delinsGT)
c.1880_1881delinsGT (p.Cys627=)
c.2000_2001delinsGT (p.Cys667=)
c.2254_2255delinsGT
c.1496_1497delinsGT (p.Cys499=)
c.1877_1878delinsGT (p.Cys626=)
c.1606+149_1606+150delinsGT (n.1606+149_1606+150delinsGT)
c.581_582delinsGT
c.1619_1620delinsGT (p.Cys540=)
n.2010_2011delinsGT
n.2117_2118delinsGT
n.1977_1978delinsGT
19g.11120383_11120389delCA10585727LDLRc.2259_2265del (p.Cys753Ter)
c.*70_*76del (n.*70_*76del)
c.1881_1887del (p.Cys627Ter)
c.2001_2007del (p.Cys667Ter)
c.2255_2261del
c.1497_1503del (p.Cys499Ter)
c.1878_1884del (p.Cys626Ter)
c.1606+150_1606+156del (n.1606+150_1606+156del)
c.582_588del
c.1620_1626del (p.Cys540Ter)
n.2011_2017del
n.2118_2124del
n.1978_1984del
 ClinVar dbSNP
19g.11120383delCA16616200LDLRc.2259del (p.Cys753TrpfsTer6)
c.*70del (n.*70del)
c.1881del (p.Cys627TrpfsTer6)
c.2001del (p.Cys667TrpfsTer6)
c.2255del
c.1497del (p.Cys499TrpfsTer6)
c.1878del (p.Cys626TrpfsTer6)
c.1606+150del (n.1606+150del)
c.582del
c.1620del (p.Cys540TrpfsTer6)
n.2011del
n.2118del
n.1978del
 ClinVar dbSNP
19g.11120383T>ACA10585725LDLRc.2259T>A (p.Cys753Ter)
c.*70T>A (n.*70T>A)
c.1881T>A (p.Cys627Ter)
c.2001T>A (p.Cys667Ter)
c.2255T>A
c.1497T>A (p.Cys499Ter)
c.1878T>A (p.Cys626Ter)
c.1606+150T>A (n.1606+150T>A)
c.582T>A
c.1620T>A (p.Cys540Ter)
n.2011T>A
n.2118T>A
n.1978T>A
 ClinVar dbSNP
19g.11120383T>CCA505743452LDLRc.2259T>C (p.Cys753=)
c.*70T>C (n.*70T>C)
c.1881T>C (p.Cys627=)
c.2001T>C (p.Cys667=)
c.2255T>C
c.1497T>C (p.Cys499=)
c.1878T>C (p.Cys626=)
c.1606+150T>C (n.1606+150T>C)
c.582T>C
c.1620T>C (p.Cys540=)
n.2011T>C
n.2118T>C
n.1978T>C
19g.11120383T>GCA10585726LDLRc.2259T>G (p.Cys753Trp)
c.*70T>G (n.*70T>G)
c.1881T>G (p.Cys627Trp)
c.2001T>G (p.Cys667Trp)
c.2255T>G
c.1497T>G (p.Cys499Trp)
c.1878T>G (p.Cys626Trp)
c.1606+150T>G (n.1606+150T>G)
c.582T>G
c.1620T>G (p.Cys540Trp)
n.2011T>G
n.2118T>G
n.1978T>G
 ClinVar dbSNP
19g.11120383T=CA2322775541LDLRc.2259T= (p.Cys753=)
c.*70T= (n.*70T=)
c.1881T= (p.Cys627=)
c.2001T= (p.Cys667=)
c.2255T=
c.1497T= (p.Cys499=)
c.1878T= (p.Cys626=)
c.1606+150T= (n.1606+150T=)
c.582T=
c.1620T= (p.Cys540=)
n.2011T=
n.2118T=
n.1978T=
19g.11120383_11120384delinsGTCA2695195461LDLRc.2259_2260delinsGT (p.Cys753TrpfsTer2)
c.*70_*71delinsGT (n.*70_*71delinsGT)
c.1881_1882delinsGT (p.Cys627TrpfsTer2)
c.2001_2002delinsGT (p.Cys667TrpfsTer2)
c.2255_2256delinsGT
c.1497_1498delinsGT (p.Cys499TrpfsTer2)
c.1878_1879delinsGT (p.Cys626TrpfsTer2)
c.1606+150_1606+151delinsGT (n.1606+150_1606+151delinsGT)
c.582_583delinsGT
c.1620_1621delinsGT (p.Cys540TrpfsTer2)
n.2011_2012delinsGT
n.2118_2119delinsGT
n.1978_1979delinsGT
19g.11120384G>ACA404093454LDLRc.2260G>A (p.Glu754Lys)
c.*71G>A (n.*71G>A)
c.1882G>A (p.Glu628Lys)
c.2002G>A (p.Glu668Lys)
c.2256G>A
c.1498G>A (p.Glu500Lys)
c.1879G>A (p.Glu627Lys)
c.1606+151G>A (n.1606+151G>A)
c.583G>A
c.1621G>A (p.Glu541Lys)
n.2012G>A
n.2119G>A
n.1979G>A
19g.11120384G>CCA404093455LDLRc.2260G>C (p.Glu754Gln)
c.*71G>C (n.*71G>C)
c.1882G>C (p.Glu628Gln)
c.2002G>C (p.Glu668Gln)
c.2256G>C
c.1498G>C (p.Glu500Gln)
c.1879G>C (p.Glu627Gln)
c.1606+151G>C (n.1606+151G>C)
c.583G>C
c.1621G>C (p.Glu541Gln)
n.2012G>C
n.2119G>C
n.1979G>C
19g.11120384G>TCA404093457LDLRc.2260G>T (p.Glu754Ter)
c.*71G>T (n.*71G>T)
c.1882G>T (p.Glu628Ter)
c.2002G>T (p.Glu668Ter)
c.2256G>T
c.1498G>T (p.Glu500Ter)
c.1879G>T (p.Glu627Ter)
c.1606+151G>T (n.1606+151G>T)
c.583G>T
c.1621G>T (p.Glu541Ter)
n.2012G>T
n.2119G>T
n.1979G>T
19g.11120385A>CCA404093460LDLRc.2261A>C (p.Glu754Ala)
c.*72A>C (n.*72A>C)
c.1883A>C (p.Glu628Ala)
c.2003A>C (p.Glu668Ala)
c.2257A>C
c.1499A>C (p.Glu500Ala)
c.1880A>C (p.Glu627Ala)
c.1606+152A>C (n.1606+152A>C)
c.584A>C
c.1622A>C (p.Glu541Ala)
n.2013A>C
n.2120A>C
n.1980A>C
19g.11120385A>GCA404093461LDLRc.2261A>G (p.Glu754Gly)
c.*72A>G (n.*72A>G)
c.1883A>G (p.Glu628Gly)
c.2003A>G (p.Glu668Gly)
c.2257A>G
c.1499A>G (p.Glu500Gly)
c.1880A>G (p.Glu627Gly)
c.1606+152A>G (n.1606+152A>G)
c.584A>G
c.1622A>G (p.Glu541Gly)
n.2013A>G
n.2120A>G
n.1980A>G
19g.11120385A>TCA404093462LDLRc.2261A>T (p.Glu754Val)
c.*72A>T (n.*72A>T)
c.1883A>T (p.Glu628Val)
c.2003A>T (p.Glu668Val)
c.2257A>T
c.1499A>T (p.Glu500Val)
c.1880A>T (p.Glu627Val)
c.1606+152A>T (n.1606+152A>T)
c.584A>T
c.1622A>T (p.Glu541Val)
n.2013A>T
n.2120A>T
n.1980A>T
19g.11120386delCA2695228170LDLRc.2262del (p.Arg755GlyfsTer4)
c.*73del (n.*73del)
c.1884del (p.Arg629GlyfsTer4)
c.2004del (p.Arg669GlyfsTer4)
c.2258del
c.1500del (p.Arg501GlyfsTer4)
c.1881del (p.Arg628GlyfsTer4)
c.1606+153del (n.1606+153del)
c.585del
c.1623del (p.Arg542GlyfsTer4)
n.2014del
n.2121del
n.1981del
19g.11120386G>ACA505743454LDLRc.2262G>A (p.Glu754=)
c.*73G>A (n.*73G>A)
c.1884G>A (p.Glu628=)
c.2004G>A (p.Glu668=)
c.2258G>A
c.1500G>A (p.Glu500=)
c.1881G>A (p.Glu627=)
c.1606+153G>A (n.1606+153G>A)
c.585G>A
c.1623G>A (p.Glu541=)
n.2014G>A
n.2121G>A
n.1981G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11120386G>CCA404093464LDLRc.2262G>C (p.Glu754Asp)
c.*73G>C (n.*73G>C)
c.1884G>C (p.Glu628Asp)
c.2004G>C (p.Glu668Asp)
c.2258G>C
c.1500G>C (p.Glu500Asp)
c.1881G>C (p.Glu627Asp)
c.1606+153G>C (n.1606+153G>C)
c.585G>C
c.1623G>C (p.Glu541Asp)
n.2014G>C
n.2121G>C
n.1981G>C
19g.11120386G=CA2322775542LDLRc.2262G= (p.Glu754=)
c.*73G= (n.*73G=)
c.1884G= (p.Glu628=)
c.2004G= (p.Glu668=)
c.2258G=
c.1500G= (p.Glu500=)
c.1881G= (p.Glu627=)
c.1606+153G= (n.1606+153G=)
c.585G=
c.1623G= (p.Glu541=)
n.2014G=
n.2121G=
n.1981G=
19g.11120386G>TCA404093465LDLRc.2262G>T (p.Glu754Asp)
c.*73G>T (n.*73G>T)
c.1884G>T (p.Glu628Asp)
c.2004G>T (p.Glu668Asp)
c.2258G>T
c.1500G>T (p.Glu500Asp)
c.1881G>T (p.Glu627Asp)
c.1606+153G>T (n.1606+153G>T)
c.585G>T
c.1623G>T (p.Glu541Asp)
n.2014G>T
n.2121G>T
n.1981G>T
 gnomAD v4
19g.11120387A>CCA505743456LDLRc.2263A>C (p.Arg755=)
c.*74A>C (n.*74A>C)
c.1885A>C (p.Arg629=)
c.2005A>C (p.Arg669=)
c.2259A>C
c.1501A>C (p.Arg501=)
c.1882A>C (p.Arg628=)
c.1606+154A>C (n.1606+154A>C)
c.586A>C
c.1624A>C (p.Arg542=)
n.2015A>C
n.2122A>C
n.1982A>C
19g.11120387A>GCA404093466LDLRc.2263A>G (p.Arg755Gly)
c.*74A>G (n.*74A>G)
c.1885A>G (p.Arg629Gly)
c.2005A>G (p.Arg669Gly)
c.2259A>G
c.1501A>G (p.Arg501Gly)
c.1882A>G (p.Arg628Gly)
c.1606+154A>G (n.1606+154A>G)
c.586A>G
c.1624A>G (p.Arg542Gly)
n.2015A>G
n.2122A>G
n.1982A>G
19g.11120387A>TCA404093467LDLRc.2263A>T (p.Arg755Trp)
c.*74A>T (n.*74A>T)
c.1885A>T (p.Arg629Trp)
c.2005A>T (p.Arg669Trp)
c.2259A>T
c.1501A>T (p.Arg501Trp)
c.1882A>T (p.Arg628Trp)
c.1606+154A>T (n.1606+154A>T)
c.586A>T
c.1624A>T (p.Arg542Trp)
n.2015A>T
n.2122A>T
n.1982A>T
19g.11120388G>ACA404093471LDLRc.2264G>A (p.Arg755Lys)
c.*75G>A (n.*75G>A)
c.1886G>A (p.Arg629Lys)
c.2006G>A (p.Arg669Lys)
c.2260G>A
c.1502G>A (p.Arg501Lys)
c.1883G>A (p.Arg628Lys)
c.1606+155G>A (n.1606+155G>A)
c.587G>A
c.1625G>A (p.Arg542Lys)
n.2016G>A
n.2123G>A
n.1983G>A
 dbSNP gnomAD v2
19g.11120388G>CCA404093473LDLRc.2264G>C (p.Arg755Thr)
c.*75G>C (n.*75G>C)
c.1886G>C (p.Arg629Thr)
c.2006G>C (p.Arg669Thr)
c.2260G>C
c.1502G>C (p.Arg501Thr)
c.1883G>C (p.Arg628Thr)
c.1606+155G>C (n.1606+155G>C)
c.587G>C
c.1625G>C (p.Arg542Thr)
n.2016G>C
n.2123G>C
n.1983G>C
 gnomAD v4
19g.11120388G=CA2322775543LDLRc.2264G= (p.Arg755=)
c.*75G= (n.*75G=)
c.1886G= (p.Arg629=)
c.2006G= (p.Arg669=)
c.2260G=
c.1502G= (p.Arg501=)
c.1883G= (p.Arg628=)
c.1606+155G= (n.1606+155G=)
c.587G=
c.1625G= (p.Arg542=)
n.2016G=
n.2123G=
n.1983G=
19g.11120388G>TCA404093469LDLRc.2264G>T (p.Arg755Met)
c.*75G>T (n.*75G>T)
c.1886G>T (p.Arg629Met)
c.2006G>T (p.Arg669Met)
c.2260G>T
c.1502G>T (p.Arg501Met)
c.1883G>T (p.Arg628Met)
c.1606+155G>T (n.1606+155G>T)
c.587G>T
c.1625G>T (p.Arg542Met)
n.2016G>T
n.2123G>T
n.1983G>T
19g.11120389G>ACA305302717LDLRc.2265G>A (p.Arg755=)
c.*76G>A (n.*76G>A)
c.1887G>A (p.Arg629=)
c.2007G>A (p.Arg669=)
c.2261G>A
c.1503G>A (p.Arg501=)
c.1884G>A (p.Arg628=)
c.1606+156G>A (n.1606+156G>A)
c.588G>A
c.1626G>A (p.Arg542=)
n.2017G>A
n.2124G>A
n.1984G>A
 ClinVar dbSNP gnomAD v4
19g.11120389G>CCA404093477LDLRc.2265G>C (p.Arg755Ser)
c.*76G>C (n.*76G>C)
c.1887G>C (p.Arg629Ser)
c.2007G>C (p.Arg669Ser)
c.2261G>C
c.1503G>C (p.Arg501Ser)
c.1884G>C (p.Arg628Ser)
c.1606+156G>C (n.1606+156G>C)
c.588G>C
c.1626G>C (p.Arg542Ser)
n.2017G>C
n.2124G>C
n.1984G>C
19g.11120389G=CA2322775544LDLRc.2265G= (p.Arg755=)
c.*76G= (n.*76G=)
c.1887G= (p.Arg629=)
c.2007G= (p.Arg669=)
c.2261G=
c.1503G= (p.Arg501=)
c.1884G= (p.Arg628=)
c.1606+156G= (n.1606+156G=)
c.588G=
c.1626G= (p.Arg542=)
n.2017G=
n.2124G=
n.1984G=
19g.11120389G>TCA404093475LDLRc.2265G>T (p.Arg755Ser)
c.*76G>T (n.*76G>T)
c.1887G>T (p.Arg629Ser)
c.2007G>T (p.Arg669Ser)
c.2261G>T
c.1503G>T (p.Arg501Ser)
c.1884G>T (p.Arg628Ser)
c.1606+156G>T (n.1606+156G>T)
c.588G>T
c.1626G>T (p.Arg542Ser)
n.2017G>T
n.2124G>T
n.1984G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11120390A>CCA404093479LDLRc.2266A>C (p.Thr756Pro)
c.*77A>C (n.*77A>C)
c.1888A>C (p.Thr630Pro)
c.2008A>C (p.Thr670Pro)
c.2262A>C
c.1504A>C (p.Thr502Pro)
c.1885A>C (p.Thr629Pro)
c.1606+157A>C (n.1606+157A>C)
c.589A>C
c.1627A>C (p.Thr543Pro)
n.2018A>C
n.2125A>C
n.1985A>C
19g.11120390A>GCA404093480LDLRc.2266A>G (p.Thr756Ala)
c.*77A>G (n.*77A>G)
c.1888A>G (p.Thr630Ala)
c.2008A>G (p.Thr670Ala)
c.2262A>G
c.1504A>G (p.Thr502Ala)
c.1885A>G (p.Thr629Ala)
c.1606+157A>G (n.1606+157A>G)
c.589A>G
c.1627A>G (p.Thr543Ala)
n.2018A>G
n.2125A>G
n.1985A>G
19g.11120390A>TCA404093482LDLRc.2266A>T (p.Thr756Ser)
c.*77A>T (n.*77A>T)
c.1888A>T (p.Thr630Ser)
c.2008A>T (p.Thr670Ser)
c.2262A>T
c.1504A>T (p.Thr502Ser)
c.1885A>T (p.Thr629Ser)
c.1606+157A>T (n.1606+157A>T)
c.589A>T
c.1627A>T (p.Thr543Ser)
n.2018A>T
n.2125A>T
n.1985A>T
19g.11120391C>ACA404093483LDLRc.2267C>A (p.Thr756Asn)
c.*78C>A (n.*78C>A)
c.1889C>A (p.Thr630Asn)
c.2009C>A (p.Thr670Asn)
c.2263C>A
c.1505C>A (p.Thr502Asn)
c.1886C>A (p.Thr629Asn)
c.1606+158C>A (n.1606+158C>A)
c.590C>A
c.1628C>A (p.Thr543Asn)
n.2019C>A
n.2126C>A
n.1986C>A
 gnomAD v4
19g.11120391C=CA2322775545LDLRc.2267C= (p.Thr756=)
c.*78C= (n.*78C=)
c.1889C= (p.Thr630=)
c.2009C= (p.Thr670=)
c.2263C=
c.1505C= (p.Thr502=)
c.1886C= (p.Thr629=)
c.1606+158C= (n.1606+158C=)
c.590C=
c.1628C= (p.Thr543=)
n.2019C=
n.2126C=
n.1986C=
19g.11120391C>GCA404093484LDLRc.2267C>G (p.Thr756Ser)
c.*78C>G (n.*78C>G)
c.1889C>G (p.Thr630Ser)
c.2009C>G (p.Thr670Ser)
c.2263C>G
c.1505C>G (p.Thr502Ser)
c.1886C>G (p.Thr629Ser)
c.1606+158C>G (n.1606+158C>G)
c.590C>G
c.1628C>G (p.Thr543Ser)
n.2019C>G
n.2126C>G
n.1986C>G
19g.11120391C>TCA404093485LDLRc.2267C>T (p.Thr756Ile)
c.*78C>T (n.*78C>T)
c.1889C>T (p.Thr630Ile)
c.2009C>T (p.Thr670Ile)
c.2263C>T
c.1505C>T (p.Thr502Ile)
c.1886C>T (p.Thr629Ile)
c.1606+158C>T (n.1606+158C>T)
c.590C>T
c.1628C>T (p.Thr543Ile)
n.2019C>T
n.2126C>T
n.1986C>T
 ClinVar dbSNP gnomAD v4
19g.11120393_11120396delCA2695228171LDLRc.2269_2272del (p.Thr757Ter)
c.*80_*83del (n.*80_*83del)
c.1891_1894del (p.Thr631Ter)
c.2011_2014del (p.Thr671Ter)
c.2265_2268del
c.1507_1510del (p.Thr503Ter)
c.1888_1891del (p.Thr630Ter)
c.1606+160_1606+163del (n.1606+160_1606+163del)
c.592_595del
c.1630_1633del (p.Thr544Ter)
n.2021_2024del
n.2128_2131del
n.1988_1991del
19g.11120392C>ACA505743461LDLRc.2268C>A (p.Thr756=)
c.*79C>A (n.*79C>A)
c.1890C>A (p.Thr630=)
c.2010C>A (p.Thr670=)
c.2264C>A
c.1506C>A (p.Thr502=)
c.1887C>A (p.Thr629=)
c.1606+159C>A (n.1606+159C>A)
c.591C>A
c.1629C>A (p.Thr543=)
n.2020C>A
n.2127C>A
n.1987C>A
 gnomAD v4
19g.11120392C=CA2322775547LDLRc.2268C= (p.Thr756=)
c.*79C= (n.*79C=)
c.1890C= (p.Thr630=)
c.2010C= (p.Thr670=)
c.2264C=
c.1506C= (p.Thr502=)
c.1887C= (p.Thr629=)
c.1606+159C= (n.1606+159C=)
c.591C=
c.1629C= (p.Thr543=)
n.2020C=
n.2127C=
n.1987C=
19g.11120392C>GCA505743462LDLRc.2268C>G (p.Thr756=)
c.*79C>G (n.*79C>G)
c.1890C>G (p.Thr630=)
c.2010C>G (p.Thr670=)
c.2264C>G
c.1506C>G (p.Thr502=)
c.1887C>G (p.Thr629=)
c.1606+159C>G (n.1606+159C>G)
c.591C>G
c.1629C>G (p.Thr543=)
n.2020C>G
n.2127C>G
n.1987C>G
19g.11120392C>TCA505743463LDLRc.2268C>T (p.Thr756=)
c.*79C>T (n.*79C>T)
c.1890C>T (p.Thr630=)
c.2010C>T (p.Thr670=)
c.2264C>T
c.1506C>T (p.Thr502=)
c.1887C>T (p.Thr629=)
c.1606+159C>T (n.1606+159C>T)
c.591C>T
c.1629C>T (p.Thr543=)
n.2020C>T
n.2127C>T
n.1987C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.11120392_11120393delinsCACA2322775546LDLRc.2268_2269delinsCA (p.Thr756=)
c.*79_*80delinsCA (n.*79_*80delinsCA)
c.1890_1891delinsCA (p.Thr630=)
c.2010_2011delinsCA (p.Thr670=)
c.2264_2265delinsCA
c.1506_1507delinsCA (p.Thr502=)
c.1887_1888delinsCA (p.Thr629=)
c.1606+159_1606+160delinsCA (n.1606+159_1606+160delinsCA)
c.591_592delinsCA
c.1629_1630delinsCA (p.Thr543=)
n.2020_2021delinsCA
n.2127_2128delinsCA
n.1987_1988delinsCA
19g.11120393delCA658653709LDLRc.2269del (p.Thr757ProfsTer2)
c.*80del (n.*80del)
c.1891del (p.Thr631ProfsTer2)
c.2011del (p.Thr671ProfsTer2)
c.2265del
c.1507del (p.Thr503ProfsTer2)
c.1888del (p.Thr630ProfsTer2)
c.1606+160del (n.1606+160del)
c.592del
c.1630del (p.Thr544ProfsTer2)
n.2021del
n.2128del
n.1988del
 ClinVar dbSNP
19g.11120393A=CA2322775548LDLRc.2269A= (p.Thr757=)
c.*80A= (n.*80A=)
c.1891A= (p.Thr631=)
c.2011A= (p.Thr671=)
c.2265A=
c.1507A= (p.Thr503=)
c.1888A= (p.Thr630=)
c.1606+160A= (n.1606+160A=)
c.592A=
c.1630A= (p.Thr544=)
n.2021A=
n.2128A=
n.1988A=
19g.11120393A>CCA404093488LDLRc.2269A>C (p.Thr757Pro)
c.*80A>C (n.*80A>C)
c.1891A>C (p.Thr631Pro)
c.2011A>C (p.Thr671Pro)
c.2265A>C
c.1507A>C (p.Thr503Pro)
c.1888A>C (p.Thr630Pro)
c.1606+160A>C (n.1606+160A>C)
c.592A>C
c.1630A>C (p.Thr544Pro)
n.2021A>C
n.2128A>C
n.1988A>C
 dbSNP
19g.11120393A>GCA404093489LDLRc.2269A>G (p.Thr757Ala)
c.*80A>G (n.*80A>G)
c.1891A>G (p.Thr631Ala)
c.2011A>G (p.Thr671Ala)
c.2265A>G
c.1507A>G (p.Thr503Ala)
c.1888A>G (p.Thr630Ala)
c.1606+160A>G (n.1606+160A>G)
c.592A>G
c.1630A>G (p.Thr544Ala)
n.2021A>G
n.2128A>G
n.1988A>G
19g.11120393A>TCA404093490LDLRc.2269A>T (p.Thr757Ser)
c.*80A>T (n.*80A>T)
c.1891A>T (p.Thr631Ser)
c.2011A>T (p.Thr671Ser)
c.2265A>T
c.1507A>T (p.Thr503Ser)
c.1888A>T (p.Thr630Ser)
c.1606+160A>T (n.1606+160A>T)
c.592A>T
c.1630A>T (p.Thr544Ser)
n.2021A>T
n.2128A>T
n.1988A>T
19g.11120393_11120395delinsACCCA2322775549LDLRc.2269_2271delinsACC (p.Thr757=)
c.*80_*82delinsACC (n.*80_*82delinsACC)
c.1891_1893delinsACC (p.Thr631=)
c.2011_2013delinsACC (p.Thr671=)
c.2265_2267delinsACC
c.1507_1509delinsACC (p.Thr503=)
c.1888_1890delinsACC (p.Thr630=)
c.1606+160_1606+162delinsACC (n.1606+160_1606+162delinsACC)
c.592_594delinsACC
c.1630_1632delinsACC (p.Thr544=)
n.2021_2023delinsACC
n.2128_2130delinsACC
n.1988_1990delinsACC
19g.11120394C>ACA404093498LDLRc.2270C>A (p.Thr757Asn)
c.*81C>A (n.*81C>A)
c.1892C>A (p.Thr631Asn)
c.2012C>A (p.Thr671Asn)
c.2266C>A
c.1508C>A (p.Thr503Asn)
c.1889C>A (p.Thr630Asn)
c.1606+161C>A (n.1606+161C>A)
c.593C>A
c.1631C>A (p.Thr544Asn)
n.2022C>A
n.2129C>A
n.1989C>A
19g.11120394C>GCA404093496LDLRc.2270C>G (p.Thr757Ser)
c.*81C>G (n.*81C>G)
c.1892C>G (p.Thr631Ser)
c.2012C>G (p.Thr671Ser)
c.2266C>G
c.1508C>G (p.Thr503Ser)
c.1889C>G (p.Thr630Ser)
c.1606+161C>G (n.1606+161C>G)
c.593C>G
c.1631C>G (p.Thr544Ser)
n.2022C>G
n.2129C>G
n.1989C>G
19g.11120394C>TCA404093499LDLRc.2270C>T (p.Thr757Ile)
c.*81C>T (n.*81C>T)
c.1892C>T (p.Thr631Ile)
c.2012C>T (p.Thr671Ile)
c.2266C>T
c.1508C>T (p.Thr503Ile)
c.1889C>T (p.Thr630Ile)
c.1606+161C>T (n.1606+161C>T)
c.593C>T
c.1631C>T (p.Thr544Ile)
n.2022C>T
n.2129C>T
n.1989C>T
19g.11120396delCA10585729LDLRc.2272del (p.Leu758Ter)
c.*83del (n.*83del)
c.1894del (p.Leu632Ter)
c.2014del (p.Leu672Ter)
c.2268del
c.1510del (p.Leu504Ter)
c.1891del (p.Leu631Ter)
c.1606+163del (n.1606+163del)
c.595del
c.1633del (p.Leu545Ter)
n.2024del
n.2131del
n.1991del
 ClinVar dbSNP
19g.11120395_11120396delCA10585728LDLRc.2271_2272del (p.Leu758GlufsTer?)
c.*82_*83del (n.*82_*83del)
c.1893_1894del (p.Leu632GlufsTer?)
c.2013_2014del (p.Leu672GlufsTer?)
c.2267_2268del
c.1509_1510del (p.Leu504GlufsTer?)
c.1890_1891del (p.Leu631GlufsTer?)
c.1606+162_1606+163del (n.1606+162_1606+163del)
c.594_595del
c.1632_1633del (p.Leu545GlufsTer?)
n.2023_2024del
n.2130_2131del
n.1990_1991del
 ClinVar dbSNP
19g.11120395C>ACA038143LDLRc.2271C>A (p.Thr757=)
c.*82C>A (n.*82C>A)
c.1893C>A (p.Thr631=)
c.2013C>A (p.Thr671=)
c.2267C>A
c.1509C>A (p.Thr503=)
c.1890C>A (p.Thr630=)
c.1606+162C>A (n.1606+162C>A)
c.594C>A
c.1632C>A (p.Thr544=)
n.2023C>A
n.2130C>A
n.1990C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120395C=CA2322775550LDLRc.2271C= (p.Thr757=)
c.*82C= (n.*82C=)
c.1893C= (p.Thr631=)
c.2013C= (p.Thr671=)
c.2267C=
c.1509C= (p.Thr503=)
c.1890C= (p.Thr630=)
c.1606+162C= (n.1606+162C=)
c.594C=
c.1632C= (p.Thr544=)
n.2023C=
n.2130C=
n.1990C=
19g.11120395C>GCA505743465LDLRc.2271C>G (p.Thr757=)
c.*82C>G (n.*82C>G)
c.1893C>G (p.Thr631=)
c.2013C>G (p.Thr671=)
c.2267C>G
c.1509C>G (p.Thr503=)
c.1890C>G (p.Thr630=)
c.1606+162C>G (n.1606+162C>G)
c.594C>G
c.1632C>G (p.Thr544=)
n.2023C>G
n.2130C>G
n.1990C>G
 gnomAD v4
19g.11120395C>TCA505743466LDLRc.2271C>T (p.Thr757=)
c.*82C>T (n.*82C>T)
c.1893C>T (p.Thr631=)
c.2013C>T (p.Thr671=)
c.2267C>T
c.1509C>T (p.Thr503=)
c.1890C>T (p.Thr630=)
c.1606+162C>T (n.1606+162C>T)
c.594C>T
c.1632C>T (p.Thr544=)
n.2023C>T
n.2130C>T
n.1990C>T
 ClinVar dbSNP gnomAD v4
19g.11120396C>ACA404093502LDLRc.2272C>A (p.Leu758Met)
c.*83C>A (n.*83C>A)
c.1894C>A (p.Leu632Met)
c.2014C>A (p.Leu672Met)
c.2268C>A
c.1510C>A (p.Leu504Met)
c.1891C>A (p.Leu631Met)
c.1606+163C>A (n.1606+163C>A)
c.595C>A
c.1633C>A (p.Leu545Met)
n.2024C>A
n.2131C>A
n.1991C>A
19g.11120396C>GCA404093504LDLRc.2272C>G (p.Leu758Val)
c.*83C>G (n.*83C>G)
c.1894C>G (p.Leu632Val)
c.2014C>G (p.Leu672Val)
c.2268C>G
c.1510C>G (p.Leu504Val)
c.1891C>G (p.Leu631Val)
c.1606+163C>G (n.1606+163C>G)
c.595C>G
c.1633C>G (p.Leu545Val)
n.2024C>G
n.2131C>G
n.1991C>G
19g.11120396C>TCA505743467LDLRc.2272C>T (p.Leu758=)
c.*83C>T (n.*83C>T)
c.1894C>T (p.Leu632=)
c.2014C>T (p.Leu672=)
c.2268C>T
c.1510C>T (p.Leu504=)
c.1891C>T (p.Leu631=)
c.1606+163C>T (n.1606+163C>T)
c.595C>T
c.1633C>T (p.Leu545=)
n.2024C>T
n.2131C>T
n.1991C>T
 ClinVar
19g.11120396_11120397delinsCTCA2322775551LDLRc.2272_2273delinsCT (p.Leu758=)
c.*83_*84delinsCT (n.*83_*84delinsCT)
c.1894_1895delinsCT (p.Leu632=)
c.2014_2015delinsCT (p.Leu672=)
c.2268_2269delinsCT
c.1510_1511delinsCT (p.Leu504=)
c.1891_1892delinsCT (p.Leu631=)
c.1606+163_1606+164delinsCT (n.1606+163_1606+164delinsCT)
c.595_596delinsCT
c.1633_1634delinsCT (p.Leu545=)
n.2024_2025delinsCT
n.2131_2132delinsCT
n.1991_1992delinsCT
19g.11120397delCA10585730LDLRc.2273del (p.Leu758ArgfsTer?)
c.*84del (n.*84del)
c.1895del (p.Leu632ArgfsTer?)
c.2015del (p.Leu672ArgfsTer?)
c.2269del
c.1511del (p.Leu504ArgfsTer?)
c.1892del (p.Leu631ArgfsTer?)
c.1606+164del (n.1606+164del)
c.596del
c.1634del (p.Leu545ArgfsTer?)
n.2025del
n.2132del
n.1992del
 ClinVar dbSNP
19g.11120397T>ACA404093510LDLRc.2273T>A (p.Leu758Gln)
c.*84T>A (n.*84T>A)
c.1895T>A (p.Leu632Gln)
c.2015T>A (p.Leu672Gln)
c.2269T>A
c.1511T>A (p.Leu504Gln)
c.1892T>A (p.Leu631Gln)
c.1606+164T>A (n.1606+164T>A)
c.596T>A
c.1634T>A (p.Leu545Gln)
n.2025T>A
n.2132T>A
n.1992T>A
19g.11120397T>CCA404093509LDLRc.2273T>C (p.Leu758Pro)
c.*84T>C (n.*84T>C)
c.1895T>C (p.Leu632Pro)
c.2015T>C (p.Leu672Pro)
c.2269T>C
c.1511T>C (p.Leu504Pro)
c.1892T>C (p.Leu631Pro)
c.1606+164T>C (n.1606+164T>C)
c.596T>C
c.1634T>C (p.Leu545Pro)
n.2025T>C
n.2132T>C
n.1992T>C
19g.11120397T>GCA404093506LDLRc.2273T>G (p.Leu758Arg)
c.*84T>G (n.*84T>G)
c.1895T>G (p.Leu632Arg)
c.2015T>G (p.Leu672Arg)
c.2269T>G
c.1511T>G (p.Leu504Arg)
c.1892T>G (p.Leu631Arg)
c.1606+164T>G (n.1606+164T>G)
c.596T>G
c.1634T>G (p.Leu545Arg)
n.2025T>G
n.2132T>G
n.1992T>G
19g.11120398G>ACA505743471LDLRc.2274G>A (p.Leu758=)
c.*85G>A (n.*85G>A)
c.1896G>A (p.Leu632=)
c.2016G>A (p.Leu672=)
c.2270G>A
c.1512G>A (p.Leu504=)
c.1893G>A (p.Leu631=)
c.1606+165G>A (n.1606+165G>A)
c.597G>A
c.1635G>A (p.Leu545=)
n.2026G>A
n.2133G>A
n.1993G>A
 ClinVar dbSNP
19g.11120398G>CCA505743470LDLRc.2274G>C (p.Leu758=)
c.*85G>C (n.*85G>C)
c.1896G>C (p.Leu632=)
c.2016G>C (p.Leu672=)
c.2270G>C
c.1512G>C (p.Leu504=)
c.1893G>C (p.Leu631=)
c.1606+165G>C (n.1606+165G>C)
c.597G>C
c.1635G>C (p.Leu545=)
n.2026G>C
n.2133G>C
n.1993G>C
 ClinVar COSMIC
19g.11120398G>TCA505743469LDLRc.2274G>T (p.Leu758=)
c.*85G>T (n.*85G>T)
c.1896G>T (p.Leu632=)
c.2016G>T (p.Leu672=)
c.2270G>T
c.1512G>T (p.Leu504=)
c.1893G>T (p.Leu631=)
c.1606+165G>T (n.1606+165G>T)
c.597G>T
c.1635G>T (p.Leu545=)
n.2026G>T
n.2133G>T
n.1993G>T
19g.11120399A=CA2322775552LDLRc.2275A= (p.Ser759=)
c.*86A= (n.*86A=)
c.1897A= (p.Ser633=)
c.2017A= (p.Ser673=)
c.2271A=
c.1513A= (p.Ser505=)
c.1894A= (p.Ser632=)
c.1606+166A= (n.1606+166A=)
c.598A=
c.1636A= (p.Ser546=)
n.2027A=
n.2134A=
n.1994A=
19g.11120399A>CCA038161LDLRc.2275A>C (p.Ser759Arg)
c.*86A>C (n.*86A>C)
c.1897A>C (p.Ser633Arg)
c.2017A>C (p.Ser673Arg)
c.2271A>C
c.1513A>C (p.Ser505Arg)
c.1894A>C (p.Ser632Arg)
c.1606+166A>C (n.1606+166A>C)
c.598A>C
c.1636A>C (p.Ser546Arg)
n.2027A>C
n.2134A>C
n.1994A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120399A>GCA404093513LDLRc.2275A>G (p.Ser759Gly)
c.*86A>G (n.*86A>G)
c.1897A>G (p.Ser633Gly)
c.2017A>G (p.Ser673Gly)
c.2271A>G
c.1513A>G (p.Ser505Gly)
c.1894A>G (p.Ser632Gly)
c.1606+166A>G (n.1606+166A>G)
c.598A>G
c.1636A>G (p.Ser546Gly)
n.2027A>G
n.2134A>G
n.1994A>G
19g.11120399A>TCA404093515LDLRc.2275A>T (p.Ser759Cys)
c.*86A>T (n.*86A>T)
c.1897A>T (p.Ser633Cys)
c.2017A>T (p.Ser673Cys)
c.2271A>T
c.1513A>T (p.Ser505Cys)
c.1894A>T (p.Ser632Cys)
c.1606+166A>T (n.1606+166A>T)
c.598A>T
c.1636A>T (p.Ser546Cys)
n.2027A>T
n.2134A>T
n.1994A>T
19g.11120400G>ACA404093517LDLRc.2276G>A (p.Ser759Asn)
c.*87G>A (n.*87G>A)
c.1898G>A (p.Ser633Asn)
c.2018G>A (p.Ser673Asn)
c.2272G>A
c.1514G>A (p.Ser505Asn)
c.1895G>A (p.Ser632Asn)
c.1606+167G>A (n.1606+167G>A)
c.599G>A
c.1637G>A (p.Ser546Asn)
n.2028G>A
n.2135G>A
n.1995G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11120400G>CCA404093519LDLRc.2276G>C (p.Ser759Thr)
c.*87G>C (n.*87G>C)
c.1898G>C (p.Ser633Thr)
c.2018G>C (p.Ser673Thr)
c.2272G>C
c.1514G>C (p.Ser505Thr)
c.1895G>C (p.Ser632Thr)
c.1606+167G>C (n.1606+167G>C)
c.599G>C
c.1637G>C (p.Ser546Thr)
n.2028G>C
n.2135G>C
n.1995G>C
19g.11120400G=CA2322775553LDLRc.2276G= (p.Ser759=)
c.*87G= (n.*87G=)
c.1898G= (p.Ser633=)
c.2018G= (p.Ser673=)
c.2272G=
c.1514G= (p.Ser505=)
c.1895G= (p.Ser632=)
c.1606+167G= (n.1606+167G=)
c.599G=
c.1637G= (p.Ser546=)
n.2028G=
n.2135G=
n.1995G=
19g.11120400G>TCA404093520LDLRc.2276G>T (p.Ser759Ile)
c.*87G>T (n.*87G>T)
c.1898G>T (p.Ser633Ile)
c.2018G>T (p.Ser673Ile)
c.2272G>T
c.1514G>T (p.Ser505Ile)
c.1895G>T (p.Ser632Ile)
c.1606+167G>T (n.1606+167G>T)
c.599G>T
c.1637G>T (p.Ser546Ile)
n.2028G>T
n.2135G>T
n.1995G>T
 gnomAD v4
19g.11120401C>ACA404093524LDLRc.2277C>A (p.Ser759Arg)
c.*88C>A (n.*88C>A)
c.1899C>A (p.Ser633Arg)
c.2019C>A (p.Ser673Arg)
c.2273C>A
c.1515C>A (p.Ser505Arg)
c.1896C>A (p.Ser632Arg)
c.1606+168C>A (n.1606+168C>A)
c.600C>A
c.1638C>A (p.Ser546Arg)
n.2029C>A
n.2136C>A
n.1996C>A
19g.11120401C=CA2322775554LDLRc.2277C= (p.Ser759=)
c.*88C= (n.*88C=)
c.1899C= (p.Ser633=)
c.2019C= (p.Ser673=)
c.2273C=
c.1515C= (p.Ser505=)
c.1896C= (p.Ser632=)
c.1606+168C= (n.1606+168C=)
c.600C=
c.1638C= (p.Ser546=)
n.2029C=
n.2136C=
n.1996C=
19g.11120401C>GCA404093523LDLRc.2277C>G (p.Ser759Arg)
c.*88C>G (n.*88C>G)
c.1899C>G (p.Ser633Arg)
c.2019C>G (p.Ser673Arg)
c.2273C>G
c.1515C>G (p.Ser505Arg)
c.1896C>G (p.Ser632Arg)
c.1606+168C>G (n.1606+168C>G)
c.600C>G
c.1638C>G (p.Ser546Arg)
n.2029C>G
n.2136C>G
n.1996C>G
19g.11120401C>TCA505743473LDLRc.2277C>T (p.Ser759=)
c.*88C>T (n.*88C>T)
c.1899C>T (p.Ser633=)
c.2019C>T (p.Ser673=)
c.2273C>T
c.1515C>T (p.Ser505=)
c.1896C>T (p.Ser632=)
c.1606+168C>T (n.1606+168C>T)
c.600C>T
c.1638C>T (p.Ser546=)
n.2029C>T
n.2136C>T
n.1996C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11120402A>CCA404093526LDLRc.2278A>C (p.Asn760His)
c.*89A>C (n.*89A>C)
c.1900A>C (p.Asn634His)
c.2020A>C (p.Asn674His)
c.2274A>C
c.1516A>C (p.Asn506His)
c.1897A>C (p.Asn633His)
c.1606+169A>C (n.1606+169A>C)
c.601A>C
c.1639A>C (p.Asn547His)
n.2030A>C
n.2137A>C
n.1997A>C
 gnomAD v4
19g.11120402A>GCA404093528LDLRc.2278A>G (p.Asn760Asp)
c.*89A>G (n.*89A>G)
c.1900A>G (p.Asn634Asp)
c.2020A>G (p.Asn674Asp)
c.2274A>G
c.1516A>G (p.Asn506Asp)
c.1897A>G (p.Asn633Asp)
c.1606+169A>G (n.1606+169A>G)
c.601A>G
c.1639A>G (p.Asn547Asp)
n.2030A>G
n.2137A>G
n.1997A>G
19g.11120402A>TCA404093530LDLRc.2278A>T (p.Asn760Tyr)
c.*89A>T (n.*89A>T)
c.1900A>T (p.Asn634Tyr)
c.2020A>T (p.Asn674Tyr)
c.2274A>T
c.1516A>T (p.Asn506Tyr)
c.1897A>T (p.Asn633Tyr)
c.1606+169A>T (n.1606+169A>T)
c.601A>T
c.1639A>T (p.Asn547Tyr)
n.2030A>T
n.2137A>T
n.1997A>T
19g.11120403A>CCA404093532LDLRc.2279A>C (p.Asn760Thr)
c.*90A>C (n.*90A>C)
c.1901A>C (p.Asn634Thr)
c.2021A>C (p.Asn674Thr)
c.2275A>C
c.1517A>C (p.Asn506Thr)
c.1898A>C (p.Asn633Thr)
c.1606+170A>C (n.1606+170A>C)
c.602A>C
c.1640A>C (p.Asn547Thr)
n.2031A>C
n.2138A>C
n.1998A>C
19g.11120403A>GCA404093534LDLRc.2279A>G (p.Asn760Ser)
c.*90A>G (n.*90A>G)
c.1901A>G (p.Asn634Ser)
c.2021A>G (p.Asn674Ser)
c.2275A>G
c.1517A>G (p.Asn506Ser)
c.1898A>G (p.Asn633Ser)
c.1606+170A>G (n.1606+170A>G)
c.602A>G
c.1640A>G (p.Asn547Ser)
n.2031A>G
n.2138A>G
n.1998A>G
19g.11120403A>TCA404093536LDLRc.2279A>T (p.Asn760Ile)
c.*90A>T (n.*90A>T)
c.1901A>T (p.Asn634Ile)
c.2021A>T (p.Asn674Ile)
c.2275A>T
c.1517A>T (p.Asn506Ile)
c.1898A>T (p.Asn633Ile)
c.1606+170A>T (n.1606+170A>T)
c.602A>T
c.1640A>T (p.Asn547Ile)
n.2031A>T
n.2138A>T
n.1998A>T
19g.11120404T>ACA404093538LDLRc.2280T>A (p.Asn760Lys)
c.*91T>A (n.*91T>A)
c.1902T>A (p.Asn634Lys)
c.2022T>A (p.Asn674Lys)
c.2276T>A
c.1518T>A (p.Asn506Lys)
c.1899T>A (p.Asn633Lys)
c.1606+171T>A (n.1606+171T>A)
c.603T>A
c.1641T>A (p.Asn547Lys)
n.2032T>A
n.2139T>A
n.1999T>A
19g.11120404T>CCA505743475LDLRc.2280T>C (p.Asn760=)
c.*91T>C (n.*91T>C)
c.1902T>C (p.Asn634=)
c.2022T>C (p.Asn674=)
c.2276T>C
c.1518T>C (p.Asn506=)
c.1899T>C (p.Asn633=)
c.1606+171T>C (n.1606+171T>C)
c.603T>C
c.1641T>C (p.Asn547=)
n.2032T>C
n.2139T>C
n.1999T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11120404T>GCA404093539LDLRc.2280T>G (p.Asn760Lys)
c.*91T>G (n.*91T>G)
c.1902T>G (p.Asn634Lys)
c.2022T>G (p.Asn674Lys)
c.2276T>G
c.1518T>G (p.Asn506Lys)
c.1899T>G (p.Asn633Lys)
c.1606+171T>G (n.1606+171T>G)
c.603T>G
c.1641T>G (p.Asn547Lys)
n.2032T>G
n.2139T>G
n.1999T>G
 dbSNP
19g.11120404T=CA2322775555LDLRc.2280T= (p.Asn760=)
c.*91T= (n.*91T=)
c.1902T= (p.Asn634=)
c.2022T= (p.Asn674=)
c.2276T=
c.1518T= (p.Asn506=)
c.1899T= (p.Asn633=)
c.1606+171T= (n.1606+171T=)
c.603T=
c.1641T= (p.Asn547=)
n.2032T=
n.2139T=
n.1999T=
19g.11120404dupCA2573054705LDLRc.2280dup (p.Gly761TrpfsTer?)
c.*91dup (n.*91dup)
c.1902dup (p.Gly635TrpfsTer?)
c.2022dup (p.Gly675TrpfsTer?)
c.2276dup
c.1518dup (p.Gly507TrpfsTer?)
c.1899dup (p.Gly634TrpfsTer?)
c.1606+171dup (n.1606+171dup)
c.603dup
c.1641dup (p.Gly548TrpfsTer?)
n.2032dup
n.2139dup
n.1999dup
 ClinVar dbSNP
19g.11120405G>ACA038175LDLRc.2281G>A (p.Gly761Ser)
c.*92G>A (n.*92G>A)
c.1903G>A (p.Gly635Ser)
c.2023G>A (p.Gly675Ser)
c.2277G>A
c.1519G>A (p.Gly507Ser)
c.1900G>A (p.Gly634Ser)
c.1606+172G>A (n.1606+172G>A)
c.604G>A
c.1642G>A (p.Gly548Ser)
n.2033G>A
n.2140G>A
n.2000G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120405G>CCA404093544LDLRc.2281G>C (p.Gly761Arg)
c.*92G>C (n.*92G>C)
c.1903G>C (p.Gly635Arg)
c.2023G>C (p.Gly675Arg)
c.2277G>C
c.1519G>C (p.Gly507Arg)
c.1900G>C (p.Gly634Arg)
c.1606+172G>C (n.1606+172G>C)
c.604G>C
c.1642G>C (p.Gly548Arg)
n.2033G>C
n.2140G>C
n.2000G>C
19g.11120405G=CA2322775556LDLRc.2281G= (p.Gly761=)
c.*92G= (n.*92G=)
c.1903G= (p.Gly635=)
c.2023G= (p.Gly675=)
c.2277G=
c.1519G= (p.Gly507=)
c.1900G= (p.Gly634=)
c.1606+172G= (n.1606+172G=)
c.604G=
c.1642G= (p.Gly548=)
n.2033G=
n.2140G=
n.2000G=
19g.11120405G>TCA404093543LDLRc.2281G>T (p.Gly761Cys)
c.*92G>T (n.*92G>T)
c.1903G>T (p.Gly635Cys)
c.2023G>T (p.Gly675Cys)
c.2277G>T
c.1519G>T (p.Gly507Cys)
c.1900G>T (p.Gly634Cys)
c.1606+172G>T (n.1606+172G>T)
c.604G>T
c.1642G>T (p.Gly548Cys)
n.2033G>T
n.2140G>T
n.2000G>T
19g.11120408_11120410delCA2695195456LDLRc.2284_2286del (p.Gly762del)
c.*95_*97del (n.*95_*97del)
c.1906_1908del (p.Gly636del)
c.2026_2028del (p.Gly676del)
c.2280_2282del
c.1522_1524del (p.Gly508del)
c.1903_1905del (p.Gly635del)
c.1606+175_1606+177del (n.1606+175_1606+177del)
c.1645_1647del (p.Gly549del)
n.2036_2038del
n.2143_2145del
n.2003_2005del
19g.11120406G>ACA404093545LDLRc.2282G>A (p.Gly761Asp)
c.*93G>A (n.*93G>A)
c.1904G>A (p.Gly635Asp)
c.2024G>A (p.Gly675Asp)
c.2278G>A
c.1520G>A (p.Gly507Asp)
c.1901G>A (p.Gly634Asp)
c.1606+173G>A (n.1606+173G>A)
c.605G>A
c.1643G>A (p.Gly548Asp)
n.2034G>A
n.2141G>A
n.2001G>A
19g.11120406G>CCA404093546LDLRc.2282G>C (p.Gly761Ala)
c.*93G>C (n.*93G>C)
c.1904G>C (p.Gly635Ala)
c.2024G>C (p.Gly675Ala)
c.2278G>C
c.1520G>C (p.Gly507Ala)
c.1901G>C (p.Gly634Ala)
c.1606+173G>C (n.1606+173G>C)
c.605G>C
c.1643G>C (p.Gly548Ala)
n.2034G>C
n.2141G>C
n.2001G>C
19g.11120406G>TCA404093547LDLRc.2282G>T (p.Gly761Val)
c.*93G>T (n.*93G>T)
c.1904G>T (p.Gly635Val)
c.2024G>T (p.Gly675Val)
c.2278G>T
c.1520G>T (p.Gly507Val)
c.1901G>T (p.Gly634Val)
c.1606+173G>T (n.1606+173G>T)
c.605G>T
c.1643G>T (p.Gly548Val)
n.2034G>T
n.2141G>T
n.2001G>T
19g.11120407C>ACA505743478LDLRc.2283C>A (p.Gly761=)
c.*94C>A (n.*94C>A)
c.1905C>A (p.Gly635=)
c.2025C>A (p.Gly675=)
c.2279C>A
c.1521C>A (p.Gly507=)
c.1902C>A (p.Gly634=)
c.1606+174C>A (n.1606+174C>A)
c.1644C>A (p.Gly548=)
n.2035C>A
n.2142C>A
n.2002C>A
19g.11120407C=CA2322775557LDLRc.2283C= (p.Gly761=)
c.*94C= (n.*94C=)
c.1905C= (p.Gly635=)
c.2025C= (p.Gly675=)
c.2279C=
c.1521C= (p.Gly507=)
c.1902C= (p.Gly634=)
c.1606+174C= (n.1606+174C=)
c.1644C= (p.Gly548=)
n.2035C=
n.2142C=
n.2002C=
19g.11120407C>GCA505743479LDLRc.2283C>G (p.Gly761=)
c.*94C>G (n.*94C>G)
c.1905C>G (p.Gly635=)
c.2025C>G (p.Gly675=)
c.2279C>G
c.1521C>G (p.Gly507=)
c.1902C>G (p.Gly634=)
c.1606+174C>G (n.1606+174C>G)
c.1644C>G (p.Gly548=)
n.2035C>G
n.2142C>G
n.2002C>G
 dbSNP
19g.11120407C>TCA038192LDLRc.2283C>T (p.Gly761=)
c.*94C>T (n.*94C>T)
c.1905C>T (p.Gly635=)
c.2025C>T (p.Gly675=)
c.2279C>T
c.1521C>T (p.Gly507=)
c.1902C>T (p.Gly634=)
c.1606+174C>T (n.1606+174C>T)
c.1644C>T (p.Gly548=)
n.2035C>T
n.2142C>T
n.2002C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120407_11120408delinsCGCA2322775558LDLRc.2283_2284delinsCG (p.Gly761=)
c.*94_*95delinsCG (n.*94_*95delinsCG)
c.1905_1906delinsCG (p.Gly635=)
c.2025_2026delinsCG (p.Gly675=)
c.2279_2280delinsCG
c.1521_1522delinsCG (p.Gly507=)
c.1902_1903delinsCG (p.Gly634=)
c.1606+174_1606+175delinsCG (n.1606+174_1606+175delinsCG)
c.1644_1645delinsCG (p.Gly548=)
n.2035_2036delinsCG
n.2142_2143delinsCG
n.2002_2003delinsCG
19g.11120408G>ACA038201LDLRc.2284G>A (p.Gly762Ser)
c.*95G>A (n.*95G>A)
c.1906G>A (p.Gly636Ser)
c.2026G>A (p.Gly676Ser)
c.2280G>A
c.1522G>A (p.Gly508Ser)
c.1903G>A (p.Gly635Ser)
c.1606+175G>A (n.1606+175G>A)
c.1645G>A (p.Gly549Ser)
n.2036G>A
n.2143G>A
n.2003G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120408G>CCA10585731LDLRc.2284G>C (p.Gly762Arg)
c.*95G>C (n.*95G>C)
c.1906G>C (p.Gly636Arg)
c.2026G>C (p.Gly676Arg)
c.2280G>C
c.1522G>C (p.Gly508Arg)
c.1903G>C (p.Gly635Arg)
c.1606+175G>C (n.1606+175G>C)
c.1645G>C (p.Gly549Arg)
n.2036G>C
n.2143G>C
n.2003G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11120408G=CA2322775559LDLRc.2284G= (p.Gly762=)
c.*95G= (n.*95G=)
c.1906G= (p.Gly636=)
c.2026G= (p.Gly676=)
c.2280G=
c.1522G= (p.Gly508=)
c.1903G= (p.Gly635=)
c.1606+175G= (n.1606+175G=)
c.1645G= (p.Gly549=)
n.2036G=
n.2143G=
n.2003G=
19g.11120408G>TCA404093548LDLRc.2284G>T (p.Gly762Cys)
c.*95G>T (n.*95G>T)
c.1906G>T (p.Gly636Cys)
c.2026G>T (p.Gly676Cys)
c.2280G>T
c.1522G>T (p.Gly508Cys)
c.1903G>T (p.Gly635Cys)
c.1606+175G>T (n.1606+175G>T)
c.1645G>T (p.Gly549Cys)
n.2036G>T
n.2143G>T
n.2003G>T
 ClinVar dbSNP
19g.11120408_11120409delCA645611149LDLRc.2284_2285del (p.Gly762LeufsTer?)
c.*95_*96del (n.*95_*96del)
c.1906_1907del (p.Gly636LeufsTer?)
c.2026_2027del (p.Gly676LeufsTer?)
c.2280_2281del
c.1522_1523del (p.Gly508LeufsTer?)
c.1903_1904del (p.Gly635LeufsTer?)
c.1606+175_1606+176del (n.1606+175_1606+176del)
c.1645_1646del (p.Gly549LeufsTer?)
n.2036_2037del
n.2143_2144del
n.2003_2004del
 COSMIC
19g.11120409delCA10576327LDLRc.2285del (p.Gly762AlafsTer?)
c.*96del (n.*96del)
c.1907del (p.Gly636AlafsTer?)
c.2027del (p.Gly676AlafsTer?)
c.2281del
c.1523del (p.Gly508AlafsTer?)
c.1904del (p.Gly635AlafsTer?)
c.1606+176del (n.1606+176del)
c.1646del (p.Gly549AlafsTer?)
n.2037del
n.2144del
n.2004del
 ClinVar dbSNP
19g.11120409G>ACA404093549LDLRc.2285G>A (p.Gly762Asp)
c.*96G>A (n.*96G>A)
c.1907G>A (p.Gly636Asp)
c.2027G>A (p.Gly676Asp)
c.2281G>A
c.1523G>A (p.Gly508Asp)
c.1904G>A (p.Gly635Asp)
c.1606+176G>A (n.1606+176G>A)
c.1646G>A (p.Gly549Asp)
n.2037G>A
n.2144G>A
n.2004G>A
 gnomAD v4
19g.11120409G>CCA038216LDLRc.2285G>C (p.Gly762Ala)
c.*96G>C (n.*96G>C)
c.1907G>C (p.Gly636Ala)
c.2027G>C (p.Gly676Ala)
c.2281G>C
c.1523G>C (p.Gly508Ala)
c.1904G>C (p.Gly635Ala)
c.1606+176G>C (n.1606+176G>C)
c.1646G>C (p.Gly549Ala)
n.2037G>C
n.2144G>C
n.2004G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120409G=CA2322775560LDLRc.2285G= (p.Gly762=)
c.*96G= (n.*96G=)
c.1907G= (p.Gly636=)
c.2027G= (p.Gly676=)
c.2281G=
c.1523G= (p.Gly508=)
c.1904G= (p.Gly635=)
c.1606+176G= (n.1606+176G=)
c.1646G= (p.Gly549=)
n.2037G=
n.2144G=
n.2004G=
19g.11120409G>TCA404093550LDLRc.2285G>T (p.Gly762Val)
c.*96G>T (n.*96G>T)
c.1907G>T (p.Gly636Val)
c.2027G>T (p.Gly676Val)
c.2281G>T
c.1523G>T (p.Gly508Val)
c.1904G>T (p.Gly635Val)
c.1606+176G>T (n.1606+176G>T)
c.1646G>T (p.Gly549Val)
n.2037G>T
n.2144G>T
n.2004G>T
19g.11120410C>ACA505743481LDLRc.2286C>A (p.Gly762=)
c.*97C>A (n.*97C>A)
c.1908C>A (p.Gly636=)
c.2028C>A (p.Gly676=)
c.2282C>A
c.1524C>A (p.Gly508=)
c.1905C>A (p.Gly635=)
c.1606+177C>A (n.1606+177C>A)
c.1647C>A (p.Gly549=)
n.2038C>A
n.2145C>A
n.2005C>A
 gnomAD v4
19g.11120410C=CA2322775562LDLRc.2286C= (p.Gly762=)
c.*97C= (n.*97C=)
c.1908C= (p.Gly636=)
c.2028C= (p.Gly676=)
c.2282C=
c.1524C= (p.Gly508=)
c.1905C= (p.Gly635=)
c.1606+177C= (n.1606+177C=)
c.1647C= (p.Gly549=)
n.2038C=
n.2145C=
n.2005C=
19g.11120410C>GCA505743482LDLRc.2286C>G (p.Gly762=)
c.*97C>G (n.*97C>G)
c.1908C>G (p.Gly636=)
c.2028C>G (p.Gly676=)
c.2282C>G
c.1524C>G (p.Gly508=)
c.1905C>G (p.Gly635=)
c.1606+177C>G (n.1606+177C>G)
c.1647C>G (p.Gly549=)
n.2038C>G
n.2145C>G
n.2005C>G
 dbSNP
19g.11120410C>TCA505743483LDLRc.2286C>T (p.Gly762=)
c.*97C>T (n.*97C>T)
c.1908C>T (p.Gly636=)
c.2028C>T (p.Gly676=)
c.2282C>T
c.1524C>T (p.Gly508=)
c.1905C>T (p.Gly635=)
c.1606+177C>T (n.1606+177C>T)
c.1647C>T (p.Gly549=)
n.2038C>T
n.2145C>T
n.2005C>T
19g.11120410dupCA645611150LDLRc.2286dup (p.Cys763LeufsTer?)
c.*97dup (n.*97dup)
c.1908dup (p.Cys637LeufsTer?)
c.2028dup (p.Cys677LeufsTer?)
c.2282dup
c.1524dup (p.Cys509LeufsTer?)
c.1905dup (p.Cys636LeufsTer?)
c.1606+177dup (n.1606+177dup)
c.1647dup (p.Cys550LeufsTer?)
n.2038dup
n.2145dup
n.2005dup
 COSMIC
19g.11120410_11120422delinsCTGCCAGTATCTGCA2322775561LDLRc.2286_2298delinsCTGCCAGTATCTG (p.Gly762=)
c.*97_*109delinsCTGCCAGTATCTG (n.*97_*109delinsCTGCCAGTATCTG)
c.1908_1920delinsCTGCCAGTATCTG (p.Gly636=)
c.2028_2040delinsCTGCCAGTATCTG (p.Gly676=)
c.2282_2294delinsCTGCCAGTATCTG
c.1524_1536delinsCTGCCAGTATCTG (p.Gly508=)
c.1905_1917delinsCTGCCAGTATCTG (p.Gly635=)
c.1606+177_1606+189delinsCTGCCAGTATCTG (n.1606+177_1606+189delinsCTGCCAGTATCTG)
c.1647_1659delinsCTGCCAGTATCTG (p.Gly549=)
n.2038_2050delinsCTGCCAGTATCTG
n.2145_2157delinsCTGCCAGTATCTG
n.2005_2017delinsCTGCCAGTATCTG
19g.11120411T>ACA404093551LDLRc.2287T>A (p.Cys763Ser)
c.*98T>A (n.*98T>A)
c.1909T>A (p.Cys637Ser)
c.2029T>A (p.Cys677Ser)
c.2283T>A
c.1525T>A (p.Cys509Ser)
c.1906T>A (p.Cys636Ser)
c.1606+178T>A (n.1606+178T>A)
c.1648T>A (p.Cys550Ser)
n.2039T>A
n.2146T>A
n.2006T>A
19g.11120411T>CCA038234LDLRc.2287T>C (p.Cys763Arg)
c.*98T>C (n.*98T>C)
c.1909T>C (p.Cys637Arg)
c.2029T>C (p.Cys677Arg)
c.2283T>C
c.1525T>C (p.Cys509Arg)
c.1906T>C (p.Cys636Arg)
c.1606+178T>C (n.1606+178T>C)
c.1648T>C (p.Cys550Arg)
n.2039T>C
n.2146T>C
n.2006T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120411T>GCA404093553LDLRc.2287T>G (p.Cys763Gly)
c.*98T>G (n.*98T>G)
c.1909T>G (p.Cys637Gly)
c.2029T>G (p.Cys677Gly)
c.2283T>G
c.1525T>G (p.Cys509Gly)
c.1906T>G (p.Cys636Gly)
c.1606+178T>G (n.1606+178T>G)
c.1648T>G (p.Cys550Gly)
n.2039T>G
n.2146T>G
n.2006T>G
19g.11120411T=CA2322775563LDLRc.2287T= (p.Cys763=)
c.*98T= (n.*98T=)
c.1909T= (p.Cys637=)
c.2029T= (p.Cys677=)
c.2283T=
c.1525T= (p.Cys509=)
c.1906T= (p.Cys636=)
c.1606+178T= (n.1606+178T=)
c.1648T= (p.Cys550=)
n.2039T=
n.2146T=
n.2006T=
19g.11120411_11120424delinsTGCCAGTATCTGTGCA2322775564LDLRc.2287_2300delinsTGCCAGTATCTGTG (p.Cys763=)
c.*98_*111delinsTGCCAGTATCTGTG (n.*98_*111delinsTGCCAGTATCTGTG)
c.1909_1922delinsTGCCAGTATCTGTG (p.Cys637=)
c.2029_2042delinsTGCCAGTATCTGTG (p.Cys677=)
c.2283_2296delinsTGCCAGTATCTGTG
c.1525_1538delinsTGCCAGTATCTGTG (p.Cys509=)
c.1906_1919delinsTGCCAGTATCTGTG (p.Cys636=)
c.1606+178_1606+191delinsTGCCAGTATCTGTG (n.1606+178_1606+191delinsTGCCAGTATCTGTG)
c.1648_1661delinsTGCCAGTATCTGTG (p.Cys550=)
n.2039_2052delinsTGCCAGTATCTGTG
n.2146_2159delinsTGCCAGTATCTGTG
n.2006_2019delinsTGCCAGTATCTGTG
19g.11120415_11120426delCA10585735LDLRc.2291_2302del (p.Gln764_Cys767del)
c.*102_*113del (n.*102_*113del)
c.1913_1924del (p.Gln638_Cys641del)
c.2033_2044del (p.Gln678_Cys681del)
c.2287_2298del
c.1529_1540del (p.Gln510_Cys513del)
c.1910_1921del (p.Gln637_Cys640del)
c.1606+182_1606+193del (n.1606+182_1606+193del)
c.1652_1663del (p.Gln551_Cys554del)
n.2043_2054del
n.2150_2161del
n.2010_2021del
 ClinVar dbSNP
19g.11120412G>ACA10585732LDLRc.2288G>A (p.Cys763Tyr)
c.*99G>A (n.*99G>A)
c.1910G>A (p.Cys637Tyr)
c.2030G>A (p.Cys677Tyr)
c.2284G>A
c.1526G>A (p.Cys509Tyr)
c.1907G>A (p.Cys636Tyr)
c.1606+179G>A (n.1606+179G>A)
c.1649G>A (p.Cys550Tyr)
n.2040G>A
n.2147G>A
n.2007G>A
 ClinVar dbSNP
19g.11120412G>CCA404093559LDLRc.2288G>C (p.Cys763Ser)
c.*99G>C (n.*99G>C)
c.1910G>C (p.Cys637Ser)
c.2030G>C (p.Cys677Ser)
c.2284G>C
c.1526G>C (p.Cys509Ser)
c.1907G>C (p.Cys636Ser)
c.1606+179G>C (n.1606+179G>C)
c.1649G>C (p.Cys550Ser)
n.2040G>C
n.2147G>C
n.2007G>C
19g.11120412G=CA2322775565LDLRc.2288G= (p.Cys763=)
c.*99G= (n.*99G=)
c.1910G= (p.Cys637=)
c.2030G= (p.Cys677=)
c.2284G=
c.1526G= (p.Cys509=)
c.1907G= (p.Cys636=)
c.1606+179G= (n.1606+179G=)
c.1649G= (p.Cys550=)
n.2040G=
n.2147G=
n.2007G=
19g.11120412G>TCA10576328LDLRc.2288G>T (p.Cys763Phe)
c.*99G>T (n.*99G>T)
c.1910G>T (p.Cys637Phe)
c.2030G>T (p.Cys677Phe)
c.2284G>T
c.1526G>T (p.Cys509Phe)
c.1907G>T (p.Cys636Phe)
c.1606+179G>T (n.1606+179G>T)
c.1649G>T (p.Cys550Phe)
n.2040G>T
n.2147G>T
n.2007G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11120412_11120424delCA10585733LDLRc.2288_2300del (p.Cys763SerfsTer28)
c.*99_*111del (n.*99_*111del)
c.1910_1922del (p.Cys637SerfsTer28)
c.2030_2042del (p.Cys677SerfsTer28)
c.2284_2296del
c.1526_1538del (p.Cys509SerfsTer28)
c.1907_1919del (p.Cys636SerfsTer28)
c.1606+179_1606+191del (n.1606+179_1606+191del)
c.1649_1661del (p.Cys550SerfsTer28)
n.2040_2052del
n.2147_2159del
n.2007_2019del
 ClinVar dbSNP
19g.11120413C>ACA404093566LDLRc.2289C>A (p.Cys763Ter)
c.*100C>A (n.*100C>A)
c.1911C>A (p.Cys637Ter)
c.2031C>A (p.Cys677Ter)
c.2285C>A
c.1527C>A (p.Cys509Ter)
c.1908C>A (p.Cys636Ter)
c.1606+180C>A (n.1606+180C>A)
c.1650C>A (p.Cys550Ter)
n.2041C>A
n.2148C>A
n.2008C>A
 ClinVar
19g.11120413C>GCA404093564LDLRc.2289C>G (p.Cys763Trp)
c.*100C>G (n.*100C>G)
c.1911C>G (p.Cys637Trp)
c.2031C>G (p.Cys677Trp)
c.2285C>G
c.1527C>G (p.Cys509Trp)
c.1908C>G (p.Cys636Trp)
c.1606+180C>G (n.1606+180C>G)
c.1650C>G (p.Cys550Trp)
n.2041C>G
n.2148C>G
n.2008C>G
19g.11120413C>TCA505743485LDLRc.2289C>T (p.Cys763=)
c.*100C>T (n.*100C>T)
c.1911C>T (p.Cys637=)
c.2031C>T (p.Cys677=)
c.2285C>T
c.1527C>T (p.Cys509=)
c.1908C>T (p.Cys636=)
c.1606+180C>T (n.1606+180C>T)
c.1650C>T (p.Cys550=)
n.2041C>T
n.2148C>T
n.2008C>T
19g.11120414C>ACA404093571LDLRc.2290C>A (p.Gln764Lys)
c.*101C>A (n.*101C>A)
c.1912C>A (p.Gln638Lys)
c.2032C>A (p.Gln678Lys)
c.2286C>A
c.1528C>A (p.Gln510Lys)
c.1909C>A (p.Gln637Lys)
c.1606+181C>A (n.1606+181C>A)
c.1651C>A (p.Gln551Lys)
n.2042C>A
n.2149C>A
n.2009C>A
19g.11120414C=CA2322775566LDLRc.2290C= (p.Gln764=)
c.*101C= (n.*101C=)
c.1912C= (p.Gln638=)
c.2032C= (p.Gln678=)
c.2286C=
c.1528C= (p.Gln510=)
c.1909C= (p.Gln637=)
c.1606+181C= (n.1606+181C=)
c.1651C= (p.Gln551=)
n.2042C=
n.2149C=
n.2009C=
19g.11120414C>GCA404093568LDLRc.2290C>G (p.Gln764Glu)
c.*101C>G (n.*101C>G)
c.1912C>G (p.Gln638Glu)
c.2032C>G (p.Gln678Glu)
c.2286C>G
c.1528C>G (p.Gln510Glu)
c.1909C>G (p.Gln637Glu)
c.1606+181C>G (n.1606+181C>G)
c.1651C>G (p.Gln551Glu)
n.2042C>G
n.2149C>G
n.2009C>G
19g.11120414C>TCA10585734LDLRc.2290C>T (p.Gln764Ter)
c.*101C>T (n.*101C>T)
c.1912C>T (p.Gln638Ter)
c.2032C>T (p.Gln678Ter)
c.2286C>T
c.1528C>T (p.Gln510Ter)
c.1909C>T (p.Gln637Ter)
c.1606+181C>T (n.1606+181C>T)
c.1651C>T (p.Gln551Ter)
n.2042C>T
n.2149C>T
n.2009C>T
 ClinVar dbSNP
19g.11120415A=CA2322775567LDLRc.2291A= (p.Gln764=)
c.*102A= (n.*102A=)
c.1913A= (p.Gln638=)
c.2033A= (p.Gln678=)
c.2287A=
c.1529A= (p.Gln510=)
c.1910A= (p.Gln637=)
c.1606+182A= (n.1606+182A=)
c.1652A= (p.Gln551=)
n.2043A=
n.2150A=
n.2010A=
19g.11120415A>CCA404093573LDLRc.2291A>C (p.Gln764Pro)
c.*102A>C (n.*102A>C)
c.1913A>C (p.Gln638Pro)
c.2033A>C (p.Gln678Pro)
c.2287A>C
c.1529A>C (p.Gln510Pro)
c.1910A>C (p.Gln637Pro)
c.1606+182A>C (n.1606+182A>C)
c.1652A>C (p.Gln551Pro)
n.2043A>C
n.2150A>C
n.2010A>C
 dbSNP
19g.11120415A>GCA404093575LDLRc.2291A>G (p.Gln764Arg)
c.*102A>G (n.*102A>G)
c.1913A>G (p.Gln638Arg)
c.2033A>G (p.Gln678Arg)
c.2287A>G
c.1529A>G (p.Gln510Arg)
c.1910A>G (p.Gln637Arg)
c.1606+182A>G (n.1606+182A>G)
c.1652A>G (p.Gln551Arg)
n.2043A>G
n.2150A>G
n.2010A>G
 gnomAD v4
19g.11120415A>TCA404093577LDLRc.2291A>T (p.Gln764Leu)
c.*102A>T (n.*102A>T)
c.1913A>T (p.Gln638Leu)
c.2033A>T (p.Gln678Leu)
c.2287A>T
c.1529A>T (p.Gln510Leu)
c.1910A>T (p.Gln637Leu)
c.1606+182A>T (n.1606+182A>T)
c.1652A>T (p.Gln551Leu)
n.2043A>T
n.2150A>T
n.2010A>T
19g.11120416G>ACA505743487LDLRc.2292G>A (p.Gln764=)
c.*103G>A (n.*103G>A)
c.1914G>A (p.Gln638=)
c.2034G>A (p.Gln678=)
c.2288G>A
c.1530G>A (p.Gln510=)
c.1911G>A (p.Gln637=)
c.1606+183G>A (n.1606+183G>A)
c.1653G>A (p.Gln551=)
n.2044G>A
n.2151G>A
n.2011G>A
19g.11120416G>CCA404093579LDLRc.2292G>C (p.Gln764His)
c.*103G>C (n.*103G>C)
c.1914G>C (p.Gln638His)
c.2034G>C (p.Gln678His)
c.2288G>C
c.1530G>C (p.Gln510His)
c.1911G>C (p.Gln637His)
c.1606+183G>C (n.1606+183G>C)
c.1653G>C (p.Gln551His)
n.2044G>C
n.2151G>C
n.2011G>C
19g.11120416G=CA2322775568LDLRc.2292G= (p.Gln764=)
c.*103G= (n.*103G=)
c.1914G= (p.Gln638=)
c.2034G= (p.Gln678=)
c.2288G=
c.1530G= (p.Gln510=)
c.1911G= (p.Gln637=)
c.1606+183G= (n.1606+183G=)
c.1653G= (p.Gln551=)
n.2044G=
n.2151G=
n.2011G=
19g.11120416G>TCA305302735LDLRc.2292G>T (p.Gln764His)
c.*103G>T (n.*103G>T)
c.1914G>T (p.Gln638His)
c.2034G>T (p.Gln678His)
c.2288G>T
c.1530G>T (p.Gln510His)
c.1911G>T (p.Gln637His)
c.1606+183G>T (n.1606+183G>T)
c.1653G>T (p.Gln551His)
n.2044G>T
n.2151G>T
n.2011G>T
 ClinVar dbSNP gnomAD v4
19g.11120417T>ACA404093584LDLRc.2293T>A (p.Tyr765Asn)
c.*104T>A (n.*104T>A)
c.1915T>A (p.Tyr639Asn)
c.2035T>A (p.Tyr679Asn)
c.2289T>A
c.1531T>A (p.Tyr511Asn)
c.1912T>A (p.Tyr638Asn)
c.1606+184T>A (n.1606+184T>A)
c.1654T>A (p.Tyr552Asn)
n.2045T>A
n.2152T>A
n.2012T>A
19g.11120417T>CCA404093586LDLRc.2293T>C (p.Tyr765His)
c.*104T>C (n.*104T>C)
c.1915T>C (p.Tyr639His)
c.2035T>C (p.Tyr679His)
c.2289T>C
c.1531T>C (p.Tyr511His)
c.1912T>C (p.Tyr638His)
c.1606+184T>C (n.1606+184T>C)
c.1654T>C (p.Tyr552His)
n.2045T>C
n.2152T>C
n.2012T>C
19g.11120417T>GCA404093588LDLRc.2293T>G (p.Tyr765Asp)
c.*104T>G (n.*104T>G)
c.1915T>G (p.Tyr639Asp)
c.2035T>G (p.Tyr679Asp)
c.2289T>G
c.1531T>G (p.Tyr511Asp)
c.1912T>G (p.Tyr638Asp)
c.1606+184T>G (n.1606+184T>G)
c.1654T>G (p.Tyr552Asp)
n.2045T>G
n.2152T>G
n.2012T>G
19g.11120417T=CA2322775569LDLRc.2293T= (p.Tyr765=)
c.*104T= (n.*104T=)
c.1915T= (p.Tyr639=)
c.2035T= (p.Tyr679=)
c.2289T=
c.1531T= (p.Tyr511=)
c.1912T= (p.Tyr638=)
c.1606+184T= (n.1606+184T=)
c.1654T= (p.Tyr552=)
n.2045T=
n.2152T=
n.2012T=
19g.11120417dupCA10585736LDLRc.2293dup (p.Tyr765LeufsTer?)
c.*104dup (n.*104dup)
c.1915dup (p.Tyr639LeufsTer?)
c.2035dup (p.Tyr679LeufsTer?)
c.2289dup
c.1531dup (p.Tyr511LeufsTer?)
c.1912dup (p.Tyr638LeufsTer?)
c.1606+184dup (n.1606+184dup)
c.1654dup (p.Tyr552LeufsTer?)
n.2045dup
n.2152dup
n.2012dup
 ClinVar dbSNP
19g.11120418A>CCA404093594LDLRc.2294A>C (p.Tyr765Ser)
c.*105A>C (n.*105A>C)
c.1916A>C (p.Tyr639Ser)
c.2036A>C (p.Tyr679Ser)
c.2290A>C
c.1532A>C (p.Tyr511Ser)
c.1913A>C (p.Tyr638Ser)
c.1606+185A>C (n.1606+185A>C)
c.1655A>C (p.Tyr552Ser)
n.2046A>C
n.2153A>C
n.2013A>C
19g.11120418A>GCA404093591LDLRc.2294A>G (p.Tyr765Cys)
c.*105A>G (n.*105A>G)
c.1916A>G (p.Tyr639Cys)
c.2036A>G (p.Tyr679Cys)
c.2290A>G
c.1532A>G (p.Tyr511Cys)
c.1913A>G (p.Tyr638Cys)
c.1606+185A>G (n.1606+185A>G)
c.1655A>G (p.Tyr552Cys)
n.2046A>G
n.2153A>G
n.2013A>G
 gnomAD v4
19g.11120418A>TCA404093592LDLRc.2294A>T (p.Tyr765Phe)
c.*105A>T (n.*105A>T)
c.1916A>T (p.Tyr639Phe)
c.2036A>T (p.Tyr679Phe)
c.2290A>T
c.1532A>T (p.Tyr511Phe)
c.1913A>T (p.Tyr638Phe)
c.1606+185A>T (n.1606+185A>T)
c.1655A>T (p.Tyr552Phe)
n.2046A>T
n.2153A>T
n.2013A>T
19g.11120418dupCA10585737LDLRc.2294dup (p.Tyr765Ter)
c.*105dup (n.*105dup)
c.1916dup (p.Tyr639Ter)
c.2036dup (p.Tyr679Ter)
c.2290dup
c.1532dup (p.Tyr511Ter)
c.1913dup (p.Tyr638Ter)
c.1606+185dup (n.1606+185dup)
c.1655dup (p.Tyr552Ter)
n.2046dup
n.2153dup
n.2013dup
 ClinVar dbSNP
19g.11120419T>ACA10585738LDLRc.2295T>A (p.Tyr765Ter)
c.*106T>A (n.*106T>A)
c.1917T>A (p.Tyr639Ter)
c.2037T>A (p.Tyr679Ter)
c.2291T>A
c.1533T>A (p.Tyr511Ter)
c.1914T>A (p.Tyr638Ter)
c.1606+186T>A (n.1606+186T>A)
c.1656T>A (p.Tyr552Ter)
n.2047T>A
n.2154T>A
n.2014T>A
 ClinVar dbSNP gnomAD v4
19g.11120419T>CCA038255LDLRc.2295T>C (p.Tyr765=)
c.*106T>C (n.*106T>C)
c.1917T>C (p.Tyr639=)
c.2037T>C (p.Tyr679=)
c.2291T>C
c.1533T>C (p.Tyr511=)
c.1914T>C (p.Tyr638=)
c.1606+186T>C (n.1606+186T>C)
c.1656T>C (p.Tyr552=)
n.2047T>C
n.2154T>C
n.2014T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120419T>GCA404093599LDLRc.2295T>G (p.Tyr765Ter)
c.*106T>G (n.*106T>G)
c.1917T>G (p.Tyr639Ter)
c.2037T>G (p.Tyr679Ter)
c.2291T>G
c.1533T>G (p.Tyr511Ter)
c.1914T>G (p.Tyr638Ter)
c.1606+186T>G (n.1606+186T>G)
c.1656T>G (p.Tyr552Ter)
n.2047T>G
n.2154T>G
n.2014T>G
19g.11120419T=CA2322775570LDLRc.2295T= (p.Tyr765=)
c.*106T= (n.*106T=)
c.1917T= (p.Tyr639=)
c.2037T= (p.Tyr679=)
c.2291T=
c.1533T= (p.Tyr511=)
c.1914T= (p.Tyr638=)
c.1606+186T= (n.1606+186T=)
c.1656T= (p.Tyr552=)
n.2047T=
n.2154T=
n.2014T=
19g.11120420C>ACA404093601LDLRc.2296C>A (p.Leu766Met)
c.*107C>A (n.*107C>A)
c.1918C>A (p.Leu640Met)
c.2038C>A (p.Leu680Met)
c.2292C>A
c.1534C>A (p.Leu512Met)
c.1915C>A (p.Leu639Met)
c.1606+187C>A (n.1606+187C>A)
c.1657C>A (p.Leu553Met)
n.2048C>A
n.2155C>A
n.2015C>A
19g.11120420C=CA2322775571LDLRc.2296C= (p.Leu766=)
c.*107C= (n.*107C=)
c.1918C= (p.Leu640=)
c.2038C= (p.Leu680=)
c.2292C=
c.1534C= (p.Leu512=)
c.1915C= (p.Leu639=)
c.1606+187C= (n.1606+187C=)
c.1657C= (p.Leu553=)
n.2048C=
n.2155C=
n.2015C=
19g.11120420C>GCA404093603LDLRc.2296C>G (p.Leu766Val)
c.*107C>G (n.*107C>G)
c.1918C>G (p.Leu640Val)
c.2038C>G (p.Leu680Val)
c.2292C>G
c.1534C>G (p.Leu512Val)
c.1915C>G (p.Leu639Val)
c.1606+187C>G (n.1606+187C>G)
c.1657C>G (p.Leu553Val)
n.2048C>G
n.2155C>G
n.2015C>G
19g.11120420C>TCA038265LDLRc.2296C>T (p.Leu766=)
c.*107C>T (n.*107C>T)
c.1918C>T (p.Leu640=)
c.2038C>T (p.Leu680=)
c.2292C>T
c.1534C>T (p.Leu512=)
c.1915C>T (p.Leu639=)
c.1606+187C>T (n.1606+187C>T)
c.1657C>T (p.Leu553=)
n.2048C>T
n.2155C>T
n.2015C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120421T>ACA404093607LDLRc.2297T>A (p.Leu766Gln)
c.*108T>A (n.*108T>A)
c.1919T>A (p.Leu640Gln)
c.2039T>A (p.Leu680Gln)
c.2293T>A
c.1535T>A (p.Leu512Gln)
c.1916T>A (p.Leu639Gln)
c.1606+188T>A (n.1606+188T>A)
c.1658T>A (p.Leu553Gln)
n.2049T>A
n.2156T>A
n.2016T>A
19g.11120421T>CCA404093609LDLRc.2297T>C (p.Leu766Pro)
c.*108T>C (n.*108T>C)
c.1919T>C (p.Leu640Pro)
c.2039T>C (p.Leu680Pro)
c.2293T>C
c.1535T>C (p.Leu512Pro)
c.1916T>C (p.Leu639Pro)
c.1606+188T>C (n.1606+188T>C)
c.1658T>C (p.Leu553Pro)
n.2049T>C
n.2156T>C
n.2016T>C
 ClinVar dbSNP
19g.11120421T>GCA404093612LDLRc.2297T>G (p.Leu766Arg)
c.*108T>G (n.*108T>G)
c.1919T>G (p.Leu640Arg)
c.2039T>G (p.Leu680Arg)
c.2293T>G
c.1535T>G (p.Leu512Arg)
c.1916T>G (p.Leu639Arg)
c.1606+188T>G (n.1606+188T>G)
c.1658T>G (p.Leu553Arg)
n.2049T>G
n.2156T>G
n.2016T>G
19g.11120421T=CA2322775572LDLRc.2297T= (p.Leu766=)
c.*108T= (n.*108T=)
c.1919T= (p.Leu640=)
c.2039T= (p.Leu680=)
c.2293T=
c.1535T= (p.Leu512=)
c.1916T= (p.Leu639=)
c.1606+188T= (n.1606+188T=)
c.1658T= (p.Leu553=)
n.2049T=
n.2156T=
n.2016T=
19g.11120423_11120424delCA2497030036LDLRc.2299_2300del (p.Cys767ProfsTer?)
c.*110_*111del (n.*110_*111del)
c.1921_1922del (p.Cys641ProfsTer?)
c.2041_2042del (p.Cys681ProfsTer?)
c.2295_2296del
c.1537_1538del (p.Cys513ProfsTer?)
c.1918_1919del (p.Cys640ProfsTer?)
c.1606+190_1606+191del (n.1606+190_1606+191del)
c.1660_1661del (p.Cys554ProfsTer?)
n.2051_2052del
n.2158_2159del
n.2018_2019del
19g.11120422G>ACA505743491LDLRc.2298G>A (p.Leu766=)
c.*109G>A (n.*109G>A)
c.1920G>A (p.Leu640=)
c.2040G>A (p.Leu680=)
c.2294G>A
c.1536G>A (p.Leu512=)
c.1917G>A (p.Leu639=)
c.1606+189G>A (n.1606+189G>A)
c.1659G>A (p.Leu553=)
n.2050G>A
n.2157G>A
n.2017G>A
19g.11120422G>CCA038280LDLRc.2298G>C (p.Leu766=)
c.*109G>C (n.*109G>C)
c.1920G>C (p.Leu640=)
c.2040G>C (p.Leu680=)
c.2294G>C
c.1536G>C (p.Leu512=)
c.1917G>C (p.Leu639=)
c.1606+189G>C (n.1606+189G>C)
c.1659G>C (p.Leu553=)
n.2050G>C
n.2157G>C
n.2017G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120422G=CA2322775573LDLRc.2298G= (p.Leu766=)
c.*109G= (n.*109G=)
c.1920G= (p.Leu640=)
c.2040G= (p.Leu680=)
c.2294G=
c.1536G= (p.Leu512=)
c.1917G= (p.Leu639=)
c.1606+189G= (n.1606+189G=)
c.1659G= (p.Leu553=)
n.2050G=
n.2157G=
n.2017G=
19g.11120422G>TCA505743492LDLRc.2298G>T (p.Leu766=)
c.*109G>T (n.*109G>T)
c.1920G>T (p.Leu640=)
c.2040G>T (p.Leu680=)
c.2294G>T
c.1536G>T (p.Leu512=)
c.1917G>T (p.Leu639=)
c.1606+189G>T (n.1606+189G>T)
c.1659G>T (p.Leu553=)
n.2050G>T
n.2157G>T
n.2017G>T
19g.11120423T>ACA10585739LDLRc.2299T>A (p.Cys767Ser)
c.*110T>A (n.*110T>A)
c.1921T>A (p.Cys641Ser)
c.2041T>A (p.Cys681Ser)
c.2295T>A
c.1537T>A (p.Cys513Ser)
c.1918T>A (p.Cys640Ser)
c.1606+190T>A (n.1606+190T>A)
c.1660T>A (p.Cys554Ser)
n.2051T>A
n.2158T>A
n.2018T>A
 ClinVar dbSNP
19g.11120423T>CCA404093616LDLRc.2299T>C (p.Cys767Arg)
c.*110T>C (n.*110T>C)
c.1921T>C (p.Cys641Arg)
c.2041T>C (p.Cys681Arg)
c.2295T>C
c.1537T>C (p.Cys513Arg)
c.1918T>C (p.Cys640Arg)
c.1606+190T>C (n.1606+190T>C)
c.1660T>C (p.Cys554Arg)
n.2051T>C
n.2158T>C
n.2018T>C
19g.11120423T>GCA10585740LDLRc.2299T>G (p.Cys767Gly)
c.*110T>G (n.*110T>G)
c.1921T>G (p.Cys641Gly)
c.2041T>G (p.Cys681Gly)
c.2295T>G
c.1537T>G (p.Cys513Gly)
c.1918T>G (p.Cys640Gly)
c.1606+190T>G (n.1606+190T>G)
c.1660T>G (p.Cys554Gly)
n.2051T>G
n.2158T>G
n.2018T>G
 ClinVar dbSNP
19g.11120423T=CA2322775574LDLRc.2299T= (p.Cys767=)
c.*110T= (n.*110T=)
c.1921T= (p.Cys641=)
c.2041T= (p.Cys681=)
c.2295T=
c.1537T= (p.Cys513=)
c.1918T= (p.Cys640=)
c.1606+190T= (n.1606+190T=)
c.1660T= (p.Cys554=)
n.2051T=
n.2158T=
n.2018T=
19g.11120427_11120434delCA2695228172LDLRc.2303_2310del (p.Leu768ProfsTer?)
c.*114_*121del (n.*114_*121del)
c.1925_1932del (p.Leu642ProfsTer?)
c.2045_2052del (p.Leu682ProfsTer?)
c.2299_2306del
c.1541_1548del (p.Leu514ProfsTer?)
c.1922_1929del (p.Leu641ProfsTer?)
c.1606+194_1606+201del (n.1606+194_1606+201del)
c.1664_1671del (p.Leu555ProfsTer?)
n.2055_2062del
n.2162_2169del
n.2022_2029del
19g.11120424G>ACA10585741LDLRc.2300G>A (p.Cys767Tyr)
c.*111G>A (n.*111G>A)
c.1922G>A (p.Cys641Tyr)
c.2042G>A (p.Cys681Tyr)
c.2296G>A
c.1538G>A (p.Cys513Tyr)
c.1919G>A (p.Cys640Tyr)
c.1606+191G>A (n.1606+191G>A)
c.1661G>A (p.Cys554Tyr)
n.2052G>A
n.2159G>A
n.2019G>A
 ClinVar dbSNP gnomAD v4
19g.11120424G>CCA10585742LDLRc.2300G>C (p.Cys767Ser)
c.*111G>C (n.*111G>C)
c.1922G>C (p.Cys641Ser)
c.2042G>C (p.Cys681Ser)
c.2296G>C
c.1538G>C (p.Cys513Ser)
c.1919G>C (p.Cys640Ser)
c.1606+191G>C (n.1606+191G>C)
c.1661G>C (p.Cys554Ser)
n.2052G>C
n.2159G>C
n.2019G>C
 ClinVar dbSNP gnomAD v4
19g.11120424G=CA2322775575LDLRc.2300G= (p.Cys767=)
c.*111G= (n.*111G=)
c.1922G= (p.Cys641=)
c.2042G= (p.Cys681=)
c.2296G=
c.1538G= (p.Cys513=)
c.1919G= (p.Cys640=)
c.1606+191G= (n.1606+191G=)
c.1661G= (p.Cys554=)
n.2052G=
n.2159G=
n.2019G=
19g.11120424G>TCA404093624LDLRc.2300G>T (p.Cys767Phe)
c.*111G>T (n.*111G>T)
c.1922G>T (p.Cys641Phe)
c.2042G>T (p.Cys681Phe)
c.2296G>T
c.1538G>T (p.Cys513Phe)
c.1919G>T (p.Cys640Phe)
c.1606+191G>T (n.1606+191G>T)
c.1661G>T (p.Cys554Phe)
n.2052G>T
n.2159G>T
n.2019G>T
19g.11120424_11120428delinsGCCTCCA2322775576LDLRc.2300_2304delinsGCCTC (p.Cys767=)
c.*111_*115delinsGCCTC (n.*111_*115delinsGCCTC)
c.1922_1926delinsGCCTC (p.Cys641=)
c.2042_2046delinsGCCTC (p.Cys681=)
c.2296_2300delinsGCCTC
c.1538_1542delinsGCCTC (p.Cys513=)
c.1919_1923delinsGCCTC (p.Cys640=)
c.1606+191_1606+195delinsGCCTC (n.1606+191_1606+195delinsGCCTC)
c.1661_1665delinsGCCTC (p.Cys554=)
n.2052_2056delinsGCCTC
n.2159_2163delinsGCCTC
n.2019_2023delinsGCCTC
19g.11120425C>ACA023623LDLRc.2301C>A (p.Cys767Ter)
c.*112C>A (n.*112C>A)
c.1923C>A (p.Cys641Ter)
c.2043C>A (p.Cys681Ter)
c.2297C>A
c.1539C>A (p.Cys513Ter)
c.1920C>A (p.Cys640Ter)
c.1606+192C>A (n.1606+192C>A)
c.1662C>A (p.Cys554Ter)
n.2053C>A
n.2160C>A
n.2020C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120425C=CA2322775577LDLRc.2301C= (p.Cys767=)
c.*112C= (n.*112C=)
c.1923C= (p.Cys641=)
c.2043C= (p.Cys681=)
c.2297C=
c.1539C= (p.Cys513=)
c.1920C= (p.Cys640=)
c.1606+192C= (n.1606+192C=)
c.1662C= (p.Cys554=)
n.2053C=
n.2160C=
n.2020C=
19g.11120425C>GCA10585743LDLRc.2301C>G (p.Cys767Trp)
c.*112C>G (n.*112C>G)
c.1923C>G (p.Cys641Trp)
c.2043C>G (p.Cys681Trp)
c.2297C>G
c.1539C>G (p.Cys513Trp)
c.1920C>G (p.Cys640Trp)
c.1606+192C>G (n.1606+192C>G)
c.1662C>G (p.Cys554Trp)
n.2053C>G
n.2160C>G
n.2020C>G
 ClinVar dbSNP
19g.11120425C>TCA505743493LDLRc.2301C>T (p.Cys767=)
c.*112C>T (n.*112C>T)
c.1923C>T (p.Cys641=)
c.2043C>T (p.Cys681=)
c.2297C>T
c.1539C>T (p.Cys513=)
c.1920C>T (p.Cys640=)
c.1606+192C>T (n.1606+192C>T)
c.1662C>T (p.Cys554=)
n.2053C>T
n.2160C>T
n.2020C>T
19g.11120428_11120431delCA10585745LDLRc.2304_2307del (p.Ala770ArgfsTer24)
c.*115_*118del (n.*115_*118del)
c.1926_1929del (p.Ala644ArgfsTer24)
c.2046_2049del (p.Ala684ArgfsTer24)
c.2300_2303del
c.1542_1545del (p.Ala516ArgfsTer24)
c.1923_1926del (p.Ala643ArgfsTer24)
c.1606+195_1606+198del (n.1606+195_1606+198del)
c.1665_1668del (p.Ala557ArgfsTer24)
n.2056_2059del
n.2163_2166del
n.2023_2026del
 ClinVar dbSNP
19g.11120426C>ACA404093632LDLRc.2302C>A (p.Leu768Ile)
c.*113C>A (n.*113C>A)
c.1924C>A (p.Leu642Ile)
c.2044C>A (p.Leu682Ile)
c.2298C>A
c.1540C>A (p.Leu514Ile)
c.1921C>A (p.Leu641Ile)
c.1606+193C>A (n.1606+193C>A)
c.1663C>A (p.Leu555Ile)
n.2054C>A
n.2161C>A
n.2021C>A
19g.11120426C=CA2322775578LDLRc.2302C= (p.Leu768=)
c.*113C= (n.*113C=)
c.1924C= (p.Leu642=)
c.2044C= (p.Leu682=)
c.2298C=
c.1540C= (p.Leu514=)
c.1921C= (p.Leu641=)
c.1606+193C= (n.1606+193C=)
c.1663C= (p.Leu555=)
n.2054C=
n.2161C=
n.2021C=
19g.11120426C>GCA404093634LDLRc.2302C>G (p.Leu768Val)
c.*113C>G (n.*113C>G)
c.1924C>G (p.Leu642Val)
c.2044C>G (p.Leu682Val)
c.2298C>G
c.1540C>G (p.Leu514Val)
c.1921C>G (p.Leu641Val)
c.1606+193C>G (n.1606+193C>G)
c.1663C>G (p.Leu555Val)
n.2054C>G
n.2161C>G
n.2021C>G
19g.11120426C>TCA404093636LDLRc.2302C>T (p.Leu768Phe)
c.*113C>T (n.*113C>T)
c.1924C>T (p.Leu642Phe)
c.2044C>T (p.Leu682Phe)
c.2298C>T
c.1540C>T (p.Leu514Phe)
c.1921C>T (p.Leu641Phe)
c.1606+193C>T (n.1606+193C>T)
c.1663C>T (p.Leu555Phe)
n.2054C>T
n.2161C>T
n.2021C>T
 ClinVar dbSNP
19g.11120427T>ACA404093639LDLRc.2303T>A (p.Leu768His)
c.*114T>A (n.*114T>A)
c.1925T>A (p.Leu642His)
c.2045T>A (p.Leu682His)
c.2299T>A
c.1541T>A (p.Leu514His)
c.1922T>A (p.Leu641His)
c.1606+194T>A (n.1606+194T>A)
c.1664T>A (p.Leu555His)
n.2055T>A
n.2162T>A
n.2022T>A
19g.11120427T>CCA10585744LDLRc.2303T>C (p.Leu768Pro)
c.*114T>C (n.*114T>C)
c.1925T>C (p.Leu642Pro)
c.2045T>C (p.Leu682Pro)
c.2299T>C
c.1541T>C (p.Leu514Pro)
c.1922T>C (p.Leu641Pro)
c.1606+194T>C (n.1606+194T>C)
c.1664T>C (p.Leu555Pro)
n.2055T>C
n.2162T>C
n.2022T>C
 ClinVar dbSNP gnomAD v4
19g.11120427T>GCA404093642LDLRc.2303T>G (p.Leu768Arg)
c.*114T>G (n.*114T>G)
c.1925T>G (p.Leu642Arg)
c.2045T>G (p.Leu682Arg)
c.2299T>G
c.1541T>G (p.Leu514Arg)
c.1922T>G (p.Leu641Arg)
c.1606+194T>G (n.1606+194T>G)
c.1664T>G (p.Leu555Arg)
n.2055T>G
n.2162T>G
n.2022T>G
 ClinVar dbSNP
19g.11120427T=CA2322775579LDLRc.2303T= (p.Leu768=)
c.*114T= (n.*114T=)
c.1925T= (p.Leu642=)
c.2045T= (p.Leu682=)
c.2299T=
c.1541T= (p.Leu514=)
c.1922T= (p.Leu641=)
c.1606+194T= (n.1606+194T=)
c.1664T= (p.Leu555=)
n.2055T=
n.2162T=
n.2022T=
19g.11120428C>ACA505743496LDLRc.2304C>A (p.Leu768=)
c.*115C>A (n.*115C>A)
c.1926C>A (p.Leu642=)
c.2046C>A (p.Leu682=)
c.2300C>A
c.1542C>A (p.Leu514=)
c.1923C>A (p.Leu641=)
c.1606+195C>A (n.1606+195C>A)
c.1665C>A (p.Leu555=)
n.2056C>A
n.2163C>A
n.2023C>A
19g.11120428C>GCA505743495LDLRc.2304C>G (p.Leu768=)
c.*115C>G (n.*115C>G)
c.1926C>G (p.Leu642=)
c.2046C>G (p.Leu682=)
c.2300C>G
c.1542C>G (p.Leu514=)
c.1923C>G (p.Leu641=)
c.1606+195C>G (n.1606+195C>G)
c.1665C>G (p.Leu555=)
n.2056C>G
n.2163C>G
n.2023C>G
19g.11120428C>TCA505743497LDLRc.2304C>T (p.Leu768=)
c.*115C>T (n.*115C>T)
c.1926C>T (p.Leu642=)
c.2046C>T (p.Leu682=)
c.2300C>T
c.1542C>T (p.Leu514=)
c.1923C>T (p.Leu641=)
c.1606+195C>T (n.1606+195C>T)
c.1665C>T (p.Leu555=)
n.2056C>T
n.2163C>T
n.2023C>T
 ClinVar gnomAD v4
19g.11120429C>ACA404093647LDLRc.2305C>A (p.Pro769Thr)
c.*116C>A (n.*116C>A)
c.1927C>A (p.Pro643Thr)
c.2047C>A (p.Pro683Thr)
c.2301C>A
c.1543C>A (p.Pro515Thr)
c.1924C>A (p.Pro642Thr)
c.1606+196C>A (n.1606+196C>A)
c.1666C>A (p.Pro556Thr)
n.2057C>A
n.2164C>A
n.2024C>A
19g.11120429C>GCA404093646LDLRc.2305C>G (p.Pro769Ala)
c.*116C>G (n.*116C>G)
c.1927C>G (p.Pro643Ala)
c.2047C>G (p.Pro683Ala)
c.2301C>G
c.1543C>G (p.Pro515Ala)
c.1924C>G (p.Pro642Ala)
c.1606+196C>G (n.1606+196C>G)
c.1666C>G (p.Pro556Ala)
n.2057C>G
n.2164C>G
n.2024C>G
19g.11120429C>TCA404093644LDLRc.2305C>T (p.Pro769Ser)
c.*116C>T (n.*116C>T)
c.1927C>T (p.Pro643Ser)
c.2047C>T (p.Pro683Ser)
c.2301C>T
c.1543C>T (p.Pro515Ser)
c.1924C>T (p.Pro642Ser)
c.1606+196C>T (n.1606+196C>T)
c.1666C>T (p.Pro556Ser)
n.2057C>T
n.2164C>T
n.2024C>T
19g.11120430C>ACA404093649LDLRc.2306C>A (p.Pro769His)
c.*117C>A (n.*117C>A)
c.1928C>A (p.Pro643His)
c.2048C>A (p.Pro683His)
c.2302C>A
c.1544C>A (p.Pro515His)
c.1925C>A (p.Pro642His)
c.1606+197C>A (n.1606+197C>A)
c.1667C>A (p.Pro556His)
n.2058C>A
n.2165C>A
n.2025C>A
19g.11120430C=CA2322775580LDLRc.2306C= (p.Pro769=)
c.*117C= (n.*117C=)
c.1928C= (p.Pro643=)
c.2048C= (p.Pro683=)
c.2302C=
c.1544C= (p.Pro515=)
c.1925C= (p.Pro642=)
c.1606+197C= (n.1606+197C=)
c.1667C= (p.Pro556=)
n.2058C=
n.2165C=
n.2025C=
19g.11120430C>GCA404093652LDLRc.2306C>G (p.Pro769Arg)
c.*117C>G (n.*117C>G)
c.1928C>G (p.Pro643Arg)
c.2048C>G (p.Pro683Arg)
c.2302C>G
c.1544C>G (p.Pro515Arg)
c.1925C>G (p.Pro642Arg)
c.1606+197C>G (n.1606+197C>G)
c.1667C>G (p.Pro556Arg)
n.2058C>G
n.2165C>G
n.2025C>G
19g.11120430C>TCA038297LDLRc.2306C>T (p.Pro769Leu)
c.*117C>T (n.*117C>T)
c.1928C>T (p.Pro643Leu)
c.2048C>T (p.Pro683Leu)
c.2302C>T
c.1544C>T (p.Pro515Leu)
c.1925C>T (p.Pro642Leu)
c.1606+197C>T (n.1606+197C>T)
c.1667C>T (p.Pro556Leu)
n.2058C>T
n.2165C>T
n.2025C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120431T>ACA505743498LDLRc.2307T>A (p.Pro769=)
c.*118T>A (n.*118T>A)
c.1929T>A (p.Pro643=)
c.2049T>A (p.Pro683=)
c.2303T>A
c.1545T>A (p.Pro515=)
c.1926T>A (p.Pro642=)
c.1606+198T>A (n.1606+198T>A)
c.1668T>A (p.Pro556=)
n.2059T>A
n.2166T>A
n.2026T>A
19g.11120431T>CCA505743499LDLRc.2307T>C (p.Pro769=)
c.*118T>C (n.*118T>C)
c.1929T>C (p.Pro643=)
c.2049T>C (p.Pro683=)
c.2303T>C
c.1545T>C (p.Pro515=)
c.1926T>C (p.Pro642=)
c.1606+198T>C (n.1606+198T>C)
c.1668T>C (p.Pro556=)
n.2059T>C
n.2166T>C
n.2026T>C
 dbSNP gnomAD v2 gnomAD v4
19g.11120431T>GCA505743500LDLRc.2307T>G (p.Pro769=)
c.*118T>G (n.*118T>G)
c.1929T>G (p.Pro643=)
c.2049T>G (p.Pro683=)
c.2303T>G
c.1545T>G (p.Pro515=)
c.1926T>G (p.Pro642=)
c.1606+198T>G (n.1606+198T>G)
c.1668T>G (p.Pro556=)
n.2059T>G
n.2166T>G
n.2026T>G
 ClinVar gnomAD v4
19g.11120431T=CA2322775582LDLRc.2307T= (p.Pro769=)
c.*118T= (n.*118T=)
c.1929T= (p.Pro643=)
c.2049T= (p.Pro683=)
c.2303T=
c.1545T= (p.Pro515=)
c.1926T= (p.Pro642=)
c.1606+198T= (n.1606+198T=)
c.1668T= (p.Pro556=)
n.2059T=
n.2166T=
n.2026T=
19g.11120431_11120432delinsTGCA2322775583LDLRc.2307_2308delinsTG (p.Pro769=)
c.*118_*119delinsTG (n.*118_*119delinsTG)
c.1929_1930delinsTG (p.Pro643=)
c.2049_2050delinsTG (p.Pro683=)
c.2303_2304delinsTG
c.1545_1546delinsTG (p.Pro515=)
c.1926_1927delinsTG (p.Pro642=)
c.1606+198_1606+199delinsTG (n.1606+198_1606+199delinsTG)
c.1668_1669delinsTG (p.Pro556=)
n.2059_2060delinsTG
n.2166_2167delinsTG
n.2026_2027delinsTG
19g.11120431_11120445delinsTGCCCCGCAGATCAACA2322775581LDLRc.2307_2321delinsTGCCCCGCAGATCAA (p.Pro769=)
c.*118_*132delinsTGCCCCGCAGATCAA (n.*118_*132delinsTGCCCCGCAGATCAA)
c.1929_1943delinsTGCCCCGCAGATCAA (p.Pro643=)
c.2049_2063delinsTGCCCCGCAGATCAA (p.Pro683=)
c.2303_2317delinsTGCCCCGCAGATCAA
c.1545_1559delinsTGCCCCGCAGATCAA (p.Pro515=)
c.1926_1940delinsTGCCCCGCAGATCAA (p.Pro642=)
c.1606+198_1606+212delinsTGCCCCGCAGATCAA (n.1606+198_1606+212delinsTGCCCCGCAGATCAA)
c.1668_1682delinsTGCCCCGCAGATCAA (p.Pro556=)
n.2059_2073delinsTGCCCCGCAGATCAA
n.2166_2180delinsTGCCCCGCAGATCAA
n.2026_2040delinsTGCCCCGCAGATCAA
19g.11120432delCA645509289LDLRc.2308del (p.Ala770ProfsTer25)
c.*119del (n.*119del)
c.1930del (p.Ala644ProfsTer25)
c.2050del (p.Ala684ProfsTer25)
c.2304del
c.1546del (p.Ala516ProfsTer25)
c.1927del (p.Ala643ProfsTer25)
c.1606+199del (n.1606+199del)
c.1669del (p.Ala557ProfsTer25)
n.2060del
n.2167del
n.2027del
 ClinVar dbSNP
19g.11120432G>ACA038311LDLRc.2308G>A (p.Ala770Thr)
c.*119G>A (n.*119G>A)
c.1930G>A (p.Ala644Thr)
c.2050G>A (p.Ala684Thr)
c.2304G>A
c.1546G>A (p.Ala516Thr)
c.1927G>A (p.Ala643Thr)
c.1606+199G>A (n.1606+199G>A)
c.1669G>A (p.Ala557Thr)
n.2060G>A
n.2167G>A
n.2027G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120432G>CCA404093661LDLRc.2308G>C (p.Ala770Pro)
c.*119G>C (n.*119G>C)
c.1930G>C (p.Ala644Pro)
c.2050G>C (p.Ala684Pro)
c.2304G>C
c.1546G>C (p.Ala516Pro)
c.1927G>C (p.Ala643Pro)
c.1606+199G>C (n.1606+199G>C)
c.1669G>C (p.Ala557Pro)
n.2060G>C
n.2167G>C
n.2027G>C
19g.11120432G=CA2322775587LDLRc.2308G= (p.Ala770=)
c.*119G= (n.*119G=)
c.1930G= (p.Ala644=)
c.2050G= (p.Ala684=)
c.2304G=
c.1546G= (p.Ala516=)
c.1927G= (p.Ala643=)
c.1606+199G= (n.1606+199G=)
c.1669G= (p.Ala557=)
n.2060G=
n.2167G=
n.2027G=
19g.11120432G>TCA404093662LDLRc.2308G>T (p.Ala770Ser)
c.*119G>T (n.*119G>T)
c.1930G>T (p.Ala644Ser)
c.2050G>T (p.Ala684Ser)
c.2304G>T
c.1546G>T (p.Ala516Ser)
c.1927G>T (p.Ala643Ser)
c.1606+199G>T (n.1606+199G>T)
c.1669G>T (p.Ala557Ser)
n.2060G>T
n.2167G>T
n.2027G>T
19g.11120432_11120433delinsGCCA2322775586LDLRc.2308_2309delinsGC (p.Ala770=)
c.*119_*120delinsGC (n.*119_*120delinsGC)
c.1930_1931delinsGC (p.Ala644=)
c.2050_2051delinsGC (p.Ala684=)
c.2304_2305delinsGC
c.1546_1547delinsGC (p.Ala516=)
c.1927_1928delinsGC (p.Ala643=)
c.1606+199_1606+200delinsGC (n.1606+199_1606+200delinsGC)
c.1669_1670delinsGC (p.Ala557=)
n.2060_2061delinsGC
n.2167_2168delinsGC
n.2027_2028delinsGC
19g.11120432_11120445delCA10585746LDLRc.2308_2321del (p.Ala770ProfsTer28)
c.*119_*132del (n.*119_*132del)
c.1930_1943del (p.Ala644ProfsTer28)
c.2050_2063del (p.Ala684ProfsTer28)
c.2304_2317del
c.1546_1559del (p.Ala516ProfsTer28)
c.1927_1940del (p.Ala643ProfsTer28)
c.1606+199_1606+212del (n.1606+199_1606+212del)
c.1669_1682del (p.Ala557ProfsTer28)
n.2060_2073del
n.2167_2180del
n.2027_2040del
 ClinVar dbSNP
19g.11120432_11120445delinsCCA645509288LDLRc.2308_2321delinsC (p.Ala770ProfsTer21)
c.*119_*132delinsC (n.*119_*132delinsC)
c.1930_1943delinsC (p.Ala644ProfsTer21)
c.2050_2063delinsC (p.Ala684ProfsTer21)
c.2304_2317delinsC
c.1546_1559delinsC (p.Ala516ProfsTer21)
c.1927_1940delinsC (p.Ala643ProfsTer21)
c.1606+199_1606+212delinsC (n.1606+199_1606+212delinsC)
c.1669_1682delinsC (p.Ala557ProfsTer21)
n.2060_2073delinsC
n.2167_2180delinsC
n.2027_2040delinsC
 ClinVar dbSNP
19g.11120432_11120445delinsGCCCCGCAGATCAACA2322775585LDLRc.2308_2321delinsGCCCCGCAGATCAA (p.Ala770=)
c.*119_*132delinsGCCCCGCAGATCAA (n.*119_*132delinsGCCCCGCAGATCAA)
c.1930_1943delinsGCCCCGCAGATCAA (p.Ala644=)
c.2050_2063delinsGCCCCGCAGATCAA (p.Ala684=)
c.2304_2317delinsGCCCCGCAGATCAA
c.1546_1559delinsGCCCCGCAGATCAA (p.Ala516=)
c.1927_1940delinsGCCCCGCAGATCAA (p.Ala643=)
c.1606+199_1606+212delinsGCCCCGCAGATCAA (n.1606+199_1606+212delinsGCCCCGCAGATCAA)
c.1669_1682delinsGCCCCGCAGATCAA (p.Ala557=)
n.2060_2073delinsGCCCCGCAGATCAA
n.2167_2180delinsGCCCCGCAGATCAA
n.2027_2040delinsGCCCCGCAGATCAA
19g.11120432_11120446delinsGCCCCGCAGATCAACCA2322775584LDLRc.2308_2322delinsGCCCCGCAGATCAAC (p.Ala770=)
c.*119_*133delinsGCCCCGCAGATCAAC (n.*119_*133delinsGCCCCGCAGATCAAC)
c.1930_1944delinsGCCCCGCAGATCAAC (p.Ala644=)
c.2050_2064delinsGCCCCGCAGATCAAC (p.Ala684=)
c.2304_2318delinsGCCCCGCAGATCAAC
c.1546_1560delinsGCCCCGCAGATCAAC (p.Ala516=)
c.1927_1941delinsGCCCCGCAGATCAAC (p.Ala643=)
c.1606+199_1606+213delinsGCCCCGCAGATCAAC (n.1606+199_1606+213delinsGCCCCGCAGATCAAC)
c.1669_1683delinsGCCCCGCAGATCAAC (p.Ala557=)
n.2060_2074delinsGCCCCGCAGATCAAC
n.2167_2181delinsGCCCCGCAGATCAAC
n.2027_2041delinsGCCCCGCAGATCAAC
19g.11120433C>ACA404093670LDLRc.2309C>A (p.Ala770Asp)
c.*120C>A (n.*120C>A)
c.1931C>A (p.Ala644Asp)
c.2051C>A (p.Ala684Asp)
c.2305C>A
c.1547C>A (p.Ala516Asp)
c.1928C>A (p.Ala643Asp)
c.1606+200C>A (n.1606+200C>A)
c.1670C>A (p.Ala557Asp)
n.2061C>A
n.2168C>A
n.2028C>A
19g.11120433C=CA2322775588LDLRc.2309C= (p.Ala770=)
c.*120C= (n.*120C=)
c.1931C= (p.Ala644=)
c.2051C= (p.Ala684=)
c.2305C=
c.1547C= (p.Ala516=)
c.1928C= (p.Ala643=)
c.1606+200C= (n.1606+200C=)
c.1670C= (p.Ala557=)
n.2061C=
n.2168C=
n.2028C=
19g.11120433C>GCA404093671LDLRc.2309C>G (p.Ala770Gly)
c.*120C>G (n.*120C>G)
c.1931C>G (p.Ala644Gly)
c.2051C>G (p.Ala684Gly)
c.2305C>G
c.1547C>G (p.Ala516Gly)
c.1928C>G (p.Ala643Gly)
c.1606+200C>G (n.1606+200C>G)
c.1670C>G (p.Ala557Gly)
n.2061C>G
n.2168C>G
n.2028C>G
19g.11120433C>TCA404093668LDLRc.2309C>T (p.Ala770Val)
c.*120C>T (n.*120C>T)
c.1931C>T (p.Ala644Val)
c.2051C>T (p.Ala684Val)
c.2305C>T
c.1547C>T (p.Ala516Val)
c.1928C>T (p.Ala643Val)
c.1606+200C>T (n.1606+200C>T)
c.1670C>T (p.Ala557Val)
n.2061C>T
n.2168C>T
n.2028C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11120436dupCA2497030099LDLRc.2312dup (p.Gln772AlafsTer?)
c.*123dup (n.*123dup)
c.1934dup (p.Gln646AlafsTer?)
c.2054dup (p.Gln686AlafsTer?)
c.2308dup
c.1550dup (p.Gln518AlafsTer?)
c.1931dup (p.Gln645AlafsTer?)
c.1606+203dup (n.1606+203dup)
c.1673dup (p.Gln559AlafsTer?)
n.2064dup
n.2171dup
n.2031dup
19g.11120436delCA10585749LDLRc.2312del (p.Pro771ArgfsTer24)
c.*123del (n.*123del)
c.1934del (p.Pro645ArgfsTer24)
c.2054del (p.Pro685ArgfsTer24)
c.2308del
c.1550del (p.Pro517ArgfsTer24)
c.1931del (p.Pro644ArgfsTer24)
c.1606+203del (n.1606+203del)
c.1673del (p.Pro558ArgfsTer24)
n.2064del
n.2171del
n.2031del
 ClinVar dbSNP
19g.11120437_11120449delCA10585750LDLRc.2313_2325del (p.Gln772ThrfsTer19)
c.*124_*136del (n.*124_*136del)
c.1935_1947del (p.Gln646ThrfsTer19)
c.2055_2067del (p.Gln686ThrfsTer19)
c.2309_2321del
c.1551_1563del (p.Gln518ThrfsTer19)
c.1932_1944del (p.Gln645ThrfsTer19)
c.1606+204_1606+216del (n.1606+204_1606+216del)
c.1674_1686del (p.Gln559ThrfsTer19)
n.2065_2077del
n.2172_2184del
n.2032_2044del
 ClinVar dbSNP
19g.11120437_11120450delCA1139666277LDLRc.2313_2326del (p.Gln772LeufsTer26)
c.*124_*137del (n.*124_*137del)
c.1935_1948del (p.Gln646LeufsTer26)
c.2055_2068del (p.Gln686LeufsTer26)
c.2309_2322del
c.1551_1564del (p.Gln518LeufsTer26)
c.1932_1945del (p.Gln645LeufsTer26)
c.1606+204_1606+217del (n.1606+204_1606+217del)
c.1674_1687del (p.Gln559LeufsTer26)
n.2065_2078del
n.2172_2185del
n.2032_2045del
 ClinVar dbSNP
19g.11120434C>ACA505486523LDLRc.2310C>A (p.Ala770=)
c.*121C>A (n.*121C>A)
c.1932C>A (p.Ala644=)
c.2052C>A (p.Ala684=)
c.2306C>A
c.1548C>A (p.Ala516=)
c.1929C>A (p.Ala643=)
c.1606+201C>A (n.1606+201C>A)
c.1671C>A (p.Ala557=)
n.2062C>A
n.2169C>A
n.2029C>A
19g.11120434C=CA2322775589LDLRc.2310C= (p.Ala770=)
c.*121C= (n.*121C=)
c.1932C= (p.Ala644=)
c.2052C= (p.Ala684=)
c.2306C=
c.1548C= (p.Ala516=)
c.1929C= (p.Ala643=)
c.1606+201C= (n.1606+201C=)
c.1671C= (p.Ala557=)
n.2062C=
n.2169C=
n.2029C=
19g.11120434C>GCA505486525LDLRc.2310C>G (p.Ala770=)
c.*121C>G (n.*121C>G)
c.1932C>G (p.Ala644=)
c.2052C>G (p.Ala684=)
c.2306C>G
c.1548C>G (p.Ala516=)
c.1929C>G (p.Ala643=)
c.1606+201C>G (n.1606+201C>G)
c.1671C>G (p.Ala557=)
n.2062C>G
n.2169C>G
n.2029C>G
 ClinVar dbSNP gnomAD v4
19g.11120434C>TCA038330LDLRc.2310C>T (p.Ala770=)
c.*121C>T (n.*121C>T)
c.1932C>T (p.Ala644=)
c.2052C>T (p.Ala684=)
c.2306C>T
c.1548C>T (p.Ala516=)
c.1929C>T (p.Ala643=)
c.1606+201C>T (n.1606+201C>T)
c.1671C>T (p.Ala557=)
n.2062C>T
n.2169C>T
n.2029C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120435C>ACA10585747LDLRc.2311C>A (p.Pro771Thr)
c.*122C>A (n.*122C>A)
c.1933C>A (p.Pro645Thr)
c.2053C>A (p.Pro685Thr)
c.2307C>A
c.1549C>A (p.Pro517Thr)
c.1930C>A (p.Pro644Thr)
c.1606+202C>A (n.1606+202C>A)
c.1672C>A (p.Pro558Thr)
n.2063C>A
n.2170C>A
n.2030C>A
 ClinVar dbSNP
19g.11120435C=CA2322775590LDLRc.2311C= (p.Pro771=)
c.*122C= (n.*122C=)
c.1933C= (p.Pro645=)
c.2053C= (p.Pro685=)
c.2307C=
c.1549C= (p.Pro517=)
c.1930C= (p.Pro644=)
c.1606+202C= (n.1606+202C=)
c.1672C= (p.Pro558=)
n.2063C=
n.2170C=
n.2030C=
19g.11120435C>GCA404093677LDLRc.2311C>G (p.Pro771Ala)
c.*122C>G (n.*122C>G)
c.1933C>G (p.Pro645Ala)
c.2053C>G (p.Pro685Ala)
c.2307C>G
c.1549C>G (p.Pro517Ala)
c.1930C>G (p.Pro644Ala)
c.1606+202C>G (n.1606+202C>G)
c.1672C>G (p.Pro558Ala)
n.2063C>G
n.2170C>G
n.2030C>G
19g.11120435C>TCA10585748LDLRc.2311C>T (p.Pro771Ser)
c.*122C>T (n.*122C>T)
c.1933C>T (p.Pro645Ser)
c.2053C>T (p.Pro685Ser)
c.2307C>T
c.1549C>T (p.Pro517Ser)
c.1930C>T (p.Pro644Ser)
c.1606+202C>T (n.1606+202C>T)
c.1672C>T (p.Pro558Ser)
n.2063C>T
n.2170C>T
n.2030C>T
 ClinVar dbSNP
19g.11120436C>ACA404093679LDLRc.2312C>A (p.Pro771Gln)
c.*123C>A (n.*123C>A)
c.1934C>A (p.Pro645Gln)
c.2054C>A (p.Pro685Gln)
c.2308C>A
c.1550C>A (p.Pro517Gln)
c.1931C>A (p.Pro644Gln)
c.1606+203C>A (n.1606+203C>A)
c.1673C>A (p.Pro558Gln)
n.2064C>A
n.2171C>A
n.2031C>A
 ClinVar dbSNP
19g.11120436C=CA2322775592LDLRc.2312C= (p.Pro771=)
c.*123C= (n.*123C=)
c.1934C= (p.Pro645=)
c.2054C= (p.Pro685=)
c.2308C=
c.1550C= (p.Pro517=)
c.1931C= (p.Pro644=)
c.1606+203C= (n.1606+203C=)
c.1673C= (p.Pro558=)
n.2064C=
n.2171C=
n.2031C=
19g.11120436C>GCA404093683LDLRc.2312C>G (p.Pro771Arg)
c.*123C>G (n.*123C>G)
c.1934C>G (p.Pro645Arg)
c.2054C>G (p.Pro685Arg)
c.2308C>G
c.1550C>G (p.Pro517Arg)
c.1931C>G (p.Pro644Arg)
c.1606+203C>G (n.1606+203C>G)
c.1673C>G (p.Pro558Arg)
n.2064C>G
n.2171C>G
n.2031C>G
 ClinVar
19g.11120436C>TCA023628LDLRc.2312C>T (p.Pro771Leu)
c.*123C>T (n.*123C>T)
c.1934C>T (p.Pro645Leu)
c.2054C>T (p.Pro685Leu)
c.2308C>T
c.1550C>T (p.Pro517Leu)
c.1931C>T (p.Pro644Leu)
c.1606+203C>T (n.1606+203C>T)
c.1673C>T (p.Pro558Leu)
n.2064C>T
n.2171C>T
n.2031C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120436_11120437delinsCGCA2322775591LDLRc.2312_2313delinsCG (p.Pro771=)
c.*123_*124delinsCG (n.*123_*124delinsCG)
c.1934_1935delinsCG (p.Pro645=)
c.2054_2055delinsCG (p.Pro685=)
c.2308_2309delinsCG
c.1550_1551delinsCG (p.Pro517=)
c.1931_1932delinsCG (p.Pro644=)
c.1606+203_1606+204delinsCG (n.1606+203_1606+204delinsCG)
c.1673_1674delinsCG (p.Pro558=)
n.2064_2065delinsCG
n.2171_2172delinsCG
n.2031_2032delinsCG
19g.11120437delCA10585751LDLRc.2313del (p.Gln772ArgfsTer23)
c.*124del (n.*124del)
c.1935del (p.Gln646ArgfsTer23)
c.2055del (p.Gln686ArgfsTer23)
c.2309del
c.1551del (p.Gln518ArgfsTer23)
c.1932del (p.Gln645ArgfsTer23)
c.1606+204del (n.1606+204del)
c.1674del (p.Gln559ArgfsTer23)
n.2065del
n.2172del
n.2032del
 ClinVar dbSNP
19g.11120437G>ACA038353LDLRc.2313G>A (p.Pro771=)
c.*124G>A (n.*124G>A)
c.1935G>A (p.Pro645=)
c.2055G>A (p.Pro685=)
c.2309G>A
c.1551G>A (p.Pro517=)
c.1932G>A (p.Pro644=)
c.1606+204G>A (n.1606+204G>A)
c.1674G>A (p.Pro558=)
n.2065G>A
n.2172G>A
n.2032G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120437G>CCA505486529LDLRc.2313G>C (p.Pro771=)
c.*124G>C (n.*124G>C)
c.1935G>C (p.Pro645=)
c.2055G>C (p.Pro685=)
c.2309G>C
c.1551G>C (p.Pro517=)
c.1932G>C (p.Pro644=)
c.1606+204G>C (n.1606+204G>C)
c.1674G>C (p.Pro558=)
n.2065G>C
n.2172G>C
n.2032G>C
19g.11120437G=CA2322775593LDLRc.2313G= (p.Pro771=)
c.*124G= (n.*124G=)
c.1935G= (p.Pro645=)
c.2055G= (p.Pro685=)
c.2309G=
c.1551G= (p.Pro517=)
c.1932G= (p.Pro644=)
c.1606+204G= (n.1606+204G=)
c.1674G= (p.Pro558=)
n.2065G=
n.2172G=
n.2032G=
19g.11120437G>TCA038370LDLRc.2313G>T (p.Pro771=)
c.*124G>T (n.*124G>T)
c.1935G>T (p.Pro645=)
c.2055G>T (p.Pro685=)
c.2309G>T
c.1551G>T (p.Pro517=)
c.1932G>T (p.Pro644=)
c.1606+204G>T (n.1606+204G>T)
c.1674G>T (p.Pro558=)
n.2065G>T
n.2172G>T
n.2032G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120437_11120450delinsGCAGATCAACCCCCCA2322775594LDLRc.2313_2326delinsGCAGATCAACCCCC (p.Pro771=)
c.*124_*137delinsGCAGATCAACCCCC (n.*124_*137delinsGCAGATCAACCCCC)
c.1935_1948delinsGCAGATCAACCCCC (p.Pro645=)
c.2055_2068delinsGCAGATCAACCCCC (p.Pro685=)
c.2309_2322delinsGCAGATCAACCCCC
c.1551_1564delinsGCAGATCAACCCCC (p.Pro517=)
c.1932_1945delinsGCAGATCAACCCCC (p.Pro644=)
c.1606+204_1606+217delinsGCAGATCAACCCCC (n.1606+204_1606+217delinsGCAGATCAACCCCC)
c.1674_1687delinsGCAGATCAACCCCC (p.Pro558=)
n.2065_2078delinsGCAGATCAACCCCC
n.2172_2185delinsGCAGATCAACCCCC
n.2032_2045delinsGCAGATCAACCCCC
19g.11120438C>ACA404093690LDLRc.2314C>A (p.Gln772Lys)
c.*125C>A (n.*125C>A)
c.1936C>A (p.Gln646Lys)
c.2056C>A (p.Gln686Lys)
c.2310C>A
c.1552C>A (p.Gln518Lys)
c.1933C>A (p.Gln645Lys)
c.1606+205C>A (n.1606+205C>A)
c.1675C>A (p.Gln559Lys)
n.2066C>A
n.2173C>A
n.2033C>A
19g.11120438C=CA2322775595LDLRc.2314C= (p.Gln772=)
c.*125C= (n.*125C=)
c.1936C= (p.Gln646=)
c.2056C= (p.Gln686=)
c.2310C=
c.1552C= (p.Gln518=)
c.1933C= (p.Gln645=)
c.1606+205C= (n.1606+205C=)
c.1675C= (p.Gln559=)
n.2066C=
n.2173C=
n.2033C=
19g.11120438C>GCA16602343LDLRc.2314C>G (p.Gln772Glu)
c.*125C>G (n.*125C>G)
c.1936C>G (p.Gln646Glu)
c.2056C>G (p.Gln686Glu)
c.2310C>G
c.1552C>G (p.Gln518Glu)
c.1933C>G (p.Gln645Glu)
c.1606+205C>G (n.1606+205C>G)
c.1675C>G (p.Gln559Glu)
n.2066C>G
n.2173C>G
n.2033C>G
 ClinVar dbSNP
19g.11120438C>TCA10585752LDLRc.2314C>T (p.Gln772Ter)
c.*125C>T (n.*125C>T)
c.1936C>T (p.Gln646Ter)
c.2056C>T (p.Gln686Ter)
c.2310C>T
c.1552C>T (p.Gln518Ter)
c.1933C>T (p.Gln645Ter)
c.1606+205C>T (n.1606+205C>T)
c.1675C>T (p.Gln559Ter)
n.2066C>T
n.2173C>T
n.2033C>T
 ClinVar dbSNP
19g.11120438_11120450delCA10585753LDLRc.2314_2326del (p.Gln772ThrfsTer19)
c.*125_*137del (n.*125_*137del)
c.1936_1948del (p.Gln646ThrfsTer19)
c.2056_2068del (p.Gln686ThrfsTer19)
c.2310_2322del
c.1552_1564del (p.Gln518ThrfsTer19)
c.1933_1945del (p.Gln645ThrfsTer19)
c.1606+205_1606+217del (n.1606+205_1606+217del)
c.1675_1687del (p.Gln559ThrfsTer19)
n.2066_2078del
n.2173_2185del
n.2033_2045del
 ClinVar dbSNP
19g.11120438_11120439insTCA2497030100LDLRc.2314_2315insT (p.Gln772LeufsTer?)
c.*125_*126insT (n.*125_*126insT)
c.1936_1937insT (p.Gln646LeufsTer?)
c.2056_2057insT (p.Gln686LeufsTer?)
c.2310_2311insT
c.1552_1553insT (p.Gln518LeufsTer?)
c.1933_1934insT (p.Gln645LeufsTer?)
c.1606+205_1606+206insT (n.1606+205_1606+206insT)
c.1675_1676insT (p.Gln559LeufsTer?)
n.2066_2067insT
n.2173_2174insT
n.2033_2034insT
19g.11120439A>CCA404093698LDLRc.2315A>C (p.Gln772Pro)
c.*126A>C (n.*126A>C)
c.1937A>C (p.Gln646Pro)
c.2057A>C (p.Gln686Pro)
c.2311A>C
c.1553A>C (p.Gln518Pro)
c.1934A>C (p.Gln645Pro)
c.1606+206A>C (n.1606+206A>C)
c.1676A>C (p.Gln559Pro)
n.2067A>C
n.2174A>C
n.2034A>C
19g.11120439A>GCA404093699LDLRc.2315A>G (p.Gln772Arg)
c.*126A>G (n.*126A>G)
c.1937A>G (p.Gln646Arg)
c.2057A>G (p.Gln686Arg)
c.2311A>G
c.1553A>G (p.Gln518Arg)
c.1934A>G (p.Gln645Arg)
c.1606+206A>G (n.1606+206A>G)
c.1676A>G (p.Gln559Arg)
n.2067A>G
n.2174A>G
n.2034A>G
19g.11120439A>TCA404093701LDLRc.2315A>T (p.Gln772Leu)
c.*126A>T (n.*126A>T)
c.1937A>T (p.Gln646Leu)
c.2057A>T (p.Gln686Leu)
c.2311A>T
c.1553A>T (p.Gln518Leu)
c.1934A>T (p.Gln645Leu)
c.1606+206A>T (n.1606+206A>T)
c.1676A>T (p.Gln559Leu)
n.2067A>T
n.2174A>T
n.2034A>T
19g.11120440G>ACA505486532LDLRc.2316G>A (p.Gln772=)
c.*127G>A (n.*127G>A)
c.1938G>A (p.Gln646=)
c.2058G>A (p.Gln686=)
c.2312G>A
c.1554G>A (p.Gln518=)
c.1935G>A (p.Gln645=)
c.1606+207G>A (n.1606+207G>A)
c.1677G>A (p.Gln559=)
n.2068G>A
n.2175G>A
n.2035G>A
19g.11120440G>CCA404093703LDLRc.2316G>C (p.Gln772His)
c.*127G>C (n.*127G>C)
c.1938G>C (p.Gln646His)
c.2058G>C (p.Gln686His)
c.2312G>C
c.1554G>C (p.Gln518His)
c.1935G>C (p.Gln645His)
c.1606+207G>C (n.1606+207G>C)
c.1677G>C (p.Gln559His)
n.2068G>C
n.2175G>C
n.2035G>C
 dbSNP
19g.11120440G=CA2322775596LDLRc.2316G= (p.Gln772=)
c.*127G= (n.*127G=)
c.1938G= (p.Gln646=)
c.2058G= (p.Gln686=)
c.2312G=
c.1554G= (p.Gln518=)
c.1935G= (p.Gln645=)
c.1606+207G= (n.1606+207G=)
c.1677G= (p.Gln559=)
n.2068G=
n.2175G=
n.2035G=
19g.11120440G>TCA404093705LDLRc.2316G>T (p.Gln772His)
c.*127G>T (n.*127G>T)
c.1938G>T (p.Gln646His)
c.2058G>T (p.Gln686His)
c.2312G>T
c.1554G>T (p.Gln518His)
c.1935G>T (p.Gln645His)
c.1606+207G>T (n.1606+207G>T)
c.1677G>T (p.Gln559His)
n.2068G>T
n.2175G>T
n.2035G>T
19g.11120441A=CA2322775597LDLRc.2317A= (p.Ile773=)
c.*128A= (n.*128A=)
c.1939A= (p.Ile647=)
c.2059A= (p.Ile687=)
c.2313A=
c.1555A= (p.Ile519=)
c.1936A= (p.Ile646=)
c.1606+208A= (n.1606+208A=)
c.1678A= (p.Ile560=)
n.2069A=
n.2176A=
n.2036A=
19g.11120441A>CCA404093707LDLRc.2317A>C (p.Ile773Leu)
c.*128A>C (n.*128A>C)
c.1939A>C (p.Ile647Leu)
c.2059A>C (p.Ile687Leu)
c.2313A>C
c.1555A>C (p.Ile519Leu)
c.1936A>C (p.Ile646Leu)
c.1606+208A>C (n.1606+208A>C)
c.1678A>C (p.Ile560Leu)
n.2069A>C
n.2176A>C
n.2036A>C
19g.11120441A>GCA404093709LDLRc.2317A>G (p.Ile773Val)
c.*128A>G (n.*128A>G)
c.1939A>G (p.Ile647Val)
c.2059A>G (p.Ile687Val)
c.2313A>G
c.1555A>G (p.Ile519Val)
c.1936A>G (p.Ile646Val)
c.1606+208A>G (n.1606+208A>G)
c.1678A>G (p.Ile560Val)
n.2069A>G
n.2176A>G
n.2036A>G
19g.11120441A>TCA16609819LDLRc.2317A>T (p.Ile773Phe)
c.*128A>T (n.*128A>T)
c.1939A>T (p.Ile647Phe)
c.2059A>T (p.Ile687Phe)
c.2313A>T
c.1555A>T (p.Ile519Phe)
c.1936A>T (p.Ile646Phe)
c.1606+208A>T (n.1606+208A>T)
c.1678A>T (p.Ile560Phe)
n.2069A>T
n.2176A>T
n.2036A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11120441_11120442delinsATCA2322775598LDLRc.2317_2318delinsAT (p.Ile773=)
c.*128_*129delinsAT (n.*128_*129delinsAT)
c.1939_1940delinsAT (p.Ile647=)
c.2059_2060delinsAT (p.Ile687=)
c.2313_2314delinsAT
c.1555_1556delinsAT (p.Ile519=)
c.1936_1937delinsAT (p.Ile646=)
c.1606+208_1606+209delinsAT (n.1606+208_1606+209delinsAT)
c.1678_1679delinsAT (p.Ile560=)
n.2069_2070delinsAT
n.2176_2177delinsAT
n.2036_2037delinsAT
19g.11120442delCA10585754LDLRc.2318del (p.Ile773ThrfsTer22)
c.*129del (n.*129del)
c.1940del (p.Ile647ThrfsTer22)
c.2060del (p.Ile687ThrfsTer22)
c.2314del
c.1556del (p.Ile519ThrfsTer22)
c.1937del (p.Ile646ThrfsTer22)
c.1606+209del (n.1606+209del)
c.1679del (p.Ile560ThrfsTer22)
n.2070del
n.2177del
n.2037del
 ClinVar dbSNP
19g.11120442T>ACA404093714LDLRc.2318T>A (p.Ile773Asn)
c.*129T>A (n.*129T>A)
c.1940T>A (p.Ile647Asn)
c.2060T>A (p.Ile687Asn)
c.2314T>A
c.1556T>A (p.Ile519Asn)
c.1937T>A (p.Ile646Asn)
c.1606+209T>A (n.1606+209T>A)
c.1679T>A (p.Ile560Asn)
n.2070T>A
n.2177T>A
n.2037T>A
19g.11120442T>CCA404093715LDLRc.2318T>C (p.Ile773Thr)
c.*129T>C (n.*129T>C)
c.1940T>C (p.Ile647Thr)
c.2060T>C (p.Ile687Thr)
c.2314T>C
c.1556T>C (p.Ile519Thr)
c.1937T>C (p.Ile646Thr)
c.1606+209T>C (n.1606+209T>C)
c.1679T>C (p.Ile560Thr)
n.2070T>C
n.2177T>C
n.2037T>C
19g.11120442T>GCA404093717LDLRc.2318T>G (p.Ile773Ser)
c.*129T>G (n.*129T>G)
c.1940T>G (p.Ile647Ser)
c.2060T>G (p.Ile687Ser)
c.2314T>G
c.1556T>G (p.Ile519Ser)
c.1937T>G (p.Ile646Ser)
c.1606+209T>G (n.1606+209T>G)
c.1679T>G (p.Ile560Ser)
n.2070T>G
n.2177T>G
n.2037T>G
19g.11120442T=CA2322775599LDLRc.2318T= (p.Ile773=)
c.*129T= (n.*129T=)
c.1940T= (p.Ile647=)
c.2060T= (p.Ile687=)
c.2314T=
c.1556T= (p.Ile519=)
c.1937T= (p.Ile646=)
c.1606+209T= (n.1606+209T=)
c.1679T= (p.Ile560=)
n.2070T=
n.2177T=
n.2037T=
19g.11120442dupCA10585755LDLRc.2318dup (p.Asn774GlnfsTer29)
c.*129dup (n.*129dup)
c.1940dup (p.Asn648GlnfsTer29)
c.2060dup (p.Asn688GlnfsTer29)
c.2314dup
c.1556dup (p.Asn520GlnfsTer29)
c.1937dup (p.Asn647GlnfsTer29)
c.1606+209dup (n.1606+209dup)
c.1679dup (p.Asn561GlnfsTer29)
n.2070dup
n.2177dup
n.2037dup
 ClinVar dbSNP
19g.11120442_11120443delinsTCCA2322775600LDLRc.2318_2319delinsTC (p.Ile773=)
c.*129_*130delinsTC (n.*129_*130delinsTC)
c.1940_1941delinsTC (p.Ile647=)
c.2060_2061delinsTC (p.Ile687=)
c.2314_2315delinsTC
c.1556_1557delinsTC (p.Ile519=)
c.1937_1938delinsTC (p.Ile646=)
c.1606+209_1606+210delinsTC (n.1606+209_1606+210delinsTC)
c.1679_1680delinsTC (p.Ile560=)
n.2070_2071delinsTC
n.2177_2178delinsTC
n.2037_2038delinsTC
19g.11120443delCA645373258LDLRc.2319del (p.Asn774ThrfsTer21)
c.*130del (n.*130del)
c.1941del (p.Asn648ThrfsTer21)
c.2061del (p.Asn688ThrfsTer21)
c.2315del
c.1557del (p.Asn520ThrfsTer21)
c.1938del (p.Asn647ThrfsTer21)
c.1606+210del (n.1606+210del)
c.1680del (p.Asn561ThrfsTer21)
n.2071del
n.2178del
n.2038del
 ClinVar dbSNP
19g.11120443C>ACA505486536LDLRc.2319C>A (p.Ile773=)
c.*130C>A (n.*130C>A)
c.1941C>A (p.Ile647=)
c.2061C>A (p.Ile687=)
c.2315C>A
c.1557C>A (p.Ile519=)
c.1938C>A (p.Ile646=)
c.1606+210C>A (n.1606+210C>A)
c.1680C>A (p.Ile560=)
n.2071C>A
n.2178C>A
n.2038C>A
19g.11120443C=CA2322775601LDLRc.2319C= (p.Ile773=)
c.*130C= (n.*130C=)
c.1941C= (p.Ile647=)
c.2061C= (p.Ile687=)
c.2315C=
c.1557C= (p.Ile519=)
c.1938C= (p.Ile646=)
c.1606+210C= (n.1606+210C=)
c.1680C= (p.Ile560=)
n.2071C=
n.2178C=
n.2038C=
19g.11120443C>GCA404093724LDLRc.2319C>G (p.Ile773Met)
c.*130C>G (n.*130C>G)
c.1941C>G (p.Ile647Met)
c.2061C>G (p.Ile687Met)
c.2315C>G
c.1557C>G (p.Ile519Met)
c.1938C>G (p.Ile646Met)
c.1606+210C>G (n.1606+210C>G)
c.1680C>G (p.Ile560Met)
n.2071C>G
n.2178C>G
n.2038C>G
19g.11120443C>TCA505486534LDLRc.2319C>T (p.Ile773=)
c.*130C>T (n.*130C>T)
c.1941C>T (p.Ile647=)
c.2061C>T (p.Ile687=)
c.2315C>T
c.1557C>T (p.Ile519=)
c.1938C>T (p.Ile646=)
c.1606+210C>T (n.1606+210C>T)
c.1680C>T (p.Ile560=)
n.2071C>T
n.2178C>T
n.2038C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11120443dupCA038385LDLRc.2319dup (p.Asn774GlnfsTer29)
c.*130dup (n.*130dup)
c.1941dup (p.Asn648GlnfsTer29)
c.2061dup (p.Asn688GlnfsTer29)
c.2315dup
c.1557dup (p.Asn520GlnfsTer29)
c.1938dup (p.Asn647GlnfsTer29)
c.1606+210dup (n.1606+210dup)
c.1680dup (p.Asn561GlnfsTer29)
n.2071dup
n.2178dup
n.2038dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120443_11120444delinsCACA2322775602LDLRc.2319_2320delinsCA (p.Ile773=)
c.*130_*131delinsCA (n.*130_*131delinsCA)
c.1941_1942delinsCA (p.Ile647=)
c.2061_2062delinsCA (p.Ile687=)
c.2315_2316delinsCA
c.1557_1558delinsCA (p.Ile519=)
c.1938_1939delinsCA (p.Ile646=)
c.1606+210_1606+211delinsCA (n.1606+210_1606+211delinsCA)
c.1680_1681delinsCA (p.Ile560=)
n.2071_2072delinsCA
n.2178_2179delinsCA
n.2038_2039delinsCA
19g.11120444A=CA2322775603LDLRc.2320A= (p.Asn774=)
c.*131A= (n.*131A=)
c.1942A= (p.Asn648=)
c.2062A= (p.Asn688=)
c.2316A=
c.1558A= (p.Asn520=)
c.1939A= (p.Asn647=)
c.1606+211A= (n.1606+211A=)
c.1681A= (p.Asn561=)
n.2072A=
n.2179A=
n.2039A=
19g.11120444A>CCA404093726LDLRc.2320A>C (p.Asn774His)
c.*131A>C (n.*131A>C)
c.1942A>C (p.Asn648His)
c.2062A>C (p.Asn688His)
c.2316A>C
c.1558A>C (p.Asn520His)
c.1939A>C (p.Asn647His)
c.1606+211A>C (n.1606+211A>C)
c.1681A>C (p.Asn561His)
n.2072A>C
n.2179A>C
n.2039A>C
19g.11120444A>GCA404093728LDLRc.2320A>G (p.Asn774Asp)
c.*131A>G (n.*131A>G)
c.1942A>G (p.Asn648Asp)
c.2062A>G (p.Asn688Asp)
c.2316A>G
c.1558A>G (p.Asn520Asp)
c.1939A>G (p.Asn647Asp)
c.1606+211A>G (n.1606+211A>G)
c.1681A>G (p.Asn561Asp)
n.2072A>G
n.2179A>G
n.2039A>G
19g.11120444A>TCA404093730LDLRc.2320A>T (p.Asn774Tyr)
c.*131A>T (n.*131A>T)
c.1942A>T (p.Asn648Tyr)
c.2062A>T (p.Asn688Tyr)
c.2316A>T
c.1558A>T (p.Asn520Tyr)
c.1939A>T (p.Asn647Tyr)
c.1606+211A>T (n.1606+211A>T)
c.1681A>T (p.Asn561Tyr)
n.2072A>T
n.2179A>T
n.2039A>T
19g.11120445dupCA10585757LDLRc.2321dup (p.Asn774LysfsTer29)
c.*132dup (n.*132dup)
c.1943dup (p.Asn648LysfsTer29)
c.2063dup (p.Asn688LysfsTer29)
c.2317dup
c.1559dup (p.Asn520LysfsTer29)
c.1940dup (p.Asn647LysfsTer29)
c.1606+212dup (n.1606+212dup)
c.1682dup (p.Asn561LysfsTer29)
n.2073dup
n.2180dup
n.2040dup
 ClinVar dbSNP
19g.11120445delCA10585756LDLRc.2321del (p.Asn774ThrfsTer21)
c.*132del (n.*132del)
c.1943del (p.Asn648ThrfsTer21)
c.2063del (p.Asn688ThrfsTer21)
c.2317del
c.1559del (p.Asn520ThrfsTer21)
c.1940del (p.Asn647ThrfsTer21)
c.1606+212del (n.1606+212del)
c.1682del (p.Asn561ThrfsTer21)
n.2073del
n.2180del
n.2040del
 ClinVar dbSNP
19g.11120444_11120445insCCA645509290LDLRc.2320_2321insC (p.Asn774ThrfsTer29)
c.*131_*132insC (n.*131_*132insC)
c.1942_1943insC (p.Asn648ThrfsTer29)
c.2062_2063insC (p.Asn688ThrfsTer29)
c.2316_2317insC
c.1558_1559insC (p.Asn520ThrfsTer29)
c.1939_1940insC (p.Asn647ThrfsTer29)
c.1606+211_1606+212insC (n.1606+211_1606+212insC)
c.1681_1682insC (p.Asn561ThrfsTer29)
n.2072_2073insC
n.2179_2180insC
n.2039_2040insC
 ClinVar dbSNP
19g.11120445A=CA2322775604LDLRc.2321A= (p.Asn774=)
c.*132A= (n.*132A=)
c.1943A= (p.Asn648=)
c.2063A= (p.Asn688=)
c.2317A=
c.1559A= (p.Asn520=)
c.1940A= (p.Asn647=)
c.1606+212A= (n.1606+212A=)
c.1682A= (p.Asn561=)
n.2073A=
n.2180A=
n.2040A=
19g.11120445A>CCA404093736LDLRc.2321A>C (p.Asn774Thr)
c.*132A>C (n.*132A>C)
c.1943A>C (p.Asn648Thr)
c.2063A>C (p.Asn688Thr)
c.2317A>C
c.1559A>C (p.Asn520Thr)
c.1940A>C (p.Asn647Thr)
c.1606+212A>C (n.1606+212A>C)
c.1682A>C (p.Asn561Thr)
n.2073A>C
n.2180A>C
n.2040A>C
 dbSNP
19g.11120445A>GCA404093739LDLRc.2321A>G (p.Asn774Ser)
c.*132A>G (n.*132A>G)
c.1943A>G (p.Asn648Ser)
c.2063A>G (p.Asn688Ser)
c.2317A>G
c.1559A>G (p.Asn520Ser)
c.1940A>G (p.Asn647Ser)
c.1606+212A>G (n.1606+212A>G)
c.1682A>G (p.Asn561Ser)
n.2073A>G
n.2180A>G
n.2040A>G
 gnomAD v4
19g.11120445A>TCA404093734LDLRc.2321A>T (p.Asn774Ile)
c.*132A>T (n.*132A>T)
c.1943A>T (p.Asn648Ile)
c.2063A>T (p.Asn688Ile)
c.2317A>T
c.1559A>T (p.Asn520Ile)
c.1940A>T (p.Asn647Ile)
c.1606+212A>T (n.1606+212A>T)
c.1682A>T (p.Asn561Ile)
n.2073A>T
n.2180A>T
n.2040A>T
19g.11120445_11120446delinsACCA2322775605LDLRc.2321_2322delinsAC (p.Asn774=)
c.*132_*133delinsAC (n.*132_*133delinsAC)
c.1943_1944delinsAC (p.Asn648=)
c.2063_2064delinsAC (p.Asn688=)
c.2317_2318delinsAC
c.1559_1560delinsAC (p.Asn520=)
c.1940_1941delinsAC (p.Asn647=)
c.1606+212_1606+213delinsAC (n.1606+212_1606+213delinsAC)
c.1682_1683delinsAC (p.Asn561=)
n.2073_2074delinsAC
n.2180_2181delinsAC
n.2040_2041delinsAC
19g.11120446C>ACA404093742LDLRc.2322C>A (p.Asn774Lys)
c.*133C>A (n.*133C>A)
c.1944C>A (p.Asn648Lys)
c.2064C>A (p.Asn688Lys)
c.2318C>A
c.1560C>A (p.Asn520Lys)
c.1941C>A (p.Asn647Lys)
c.1606+213C>A (n.1606+213C>A)
c.1683C>A (p.Asn561Lys)
n.2074C>A
n.2181C>A
n.2041C>A
19g.11120446C=CA2322775606LDLRc.2322C= (p.Asn774=)
c.*133C= (n.*133C=)
c.1944C= (p.Asn648=)
c.2064C= (p.Asn688=)
c.2318C=
c.1560C= (p.Asn520=)
c.1941C= (p.Asn647=)
c.1606+213C= (n.1606+213C=)
c.1683C= (p.Asn561=)
n.2074C=
n.2181C=
n.2041C=
19g.11120446C>GCA404093744LDLRc.2322C>G (p.Asn774Lys)
c.*133C>G (n.*133C>G)
c.1944C>G (p.Asn648Lys)
c.2064C>G (p.Asn688Lys)
c.2318C>G
c.1560C>G (p.Asn520Lys)
c.1941C>G (p.Asn647Lys)
c.1606+213C>G (n.1606+213C>G)
c.1683C>G (p.Asn561Lys)
n.2074C>G
n.2181C>G
n.2041C>G
19g.11120446C>TCA038402LDLRc.2322C>T (p.Asn774=)
c.*133C>T (n.*133C>T)
c.1944C>T (p.Asn648=)
c.2064C>T (p.Asn688=)
c.2318C>T
c.1560C>T (p.Asn520=)
c.1941C>T (p.Asn647=)
c.1606+213C>T (n.1606+213C>T)
c.1683C>T (p.Asn561=)
n.2074C>T
n.2181C>T
n.2041C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120450dupCA16602344LDLRc.2326dup (p.His776ProfsTer27)
c.*137dup (n.*137dup)
c.1948dup (p.His650ProfsTer27)
c.2068dup (p.His690ProfsTer27)
c.2322dup
c.1564dup (p.His522ProfsTer27)
c.1945dup (p.His649ProfsTer27)
c.1606+217dup (n.1606+217dup)
c.1687dup (p.His563ProfsTer27)
n.2078dup
n.2185dup
n.2045dup
 ClinVar dbSNP
19g.11120450delCA10585759LDLRc.2326del (p.His776ThrfsTer19)
c.*137del (n.*137del)
c.1948del (p.His650ThrfsTer19)
c.2068del (p.His690ThrfsTer19)
c.2322del
c.1564del (p.His522ThrfsTer19)
c.1945del (p.His649ThrfsTer19)
c.1606+217del (n.1606+217del)
c.1687del (p.His563ThrfsTer19)
n.2078del
n.2185del
n.2045del
 ClinVar dbSNP gnomAD v4
19g.11120447C>ACA404093750LDLRc.2323C>A (p.Pro775Thr)
c.*134C>A (n.*134C>A)
c.1945C>A (p.Pro649Thr)
c.2065C>A (p.Pro689Thr)
c.2319C>A
c.1561C>A (p.Pro521Thr)
c.1942C>A (p.Pro648Thr)
c.1606+214C>A (n.1606+214C>A)
c.1684C>A (p.Pro562Thr)
n.2075C>A
n.2182C>A
n.2042C>A
19g.11120447C=CA2322775607LDLRc.2323C= (p.Pro775=)
c.*134C= (n.*134C=)
c.1945C= (p.Pro649=)
c.2065C= (p.Pro689=)
c.2319C=
c.1561C= (p.Pro521=)
c.1942C= (p.Pro648=)
c.1606+214C= (n.1606+214C=)
c.1684C= (p.Pro562=)
n.2075C=
n.2182C=
n.2042C=
19g.11120447C>GCA404093752LDLRc.2323C>G (p.Pro775Ala)
c.*134C>G (n.*134C>G)
c.1945C>G (p.Pro649Ala)
c.2065C>G (p.Pro689Ala)
c.2319C>G
c.1561C>G (p.Pro521Ala)
c.1942C>G (p.Pro648Ala)
c.1606+214C>G (n.1606+214C>G)
c.1684C>G (p.Pro562Ala)
n.2075C>G
n.2182C>G
n.2042C>G
19g.11120447C>TCA038416LDLRc.2323C>T (p.Pro775Ser)
c.*134C>T (n.*134C>T)
c.1945C>T (p.Pro649Ser)
c.2065C>T (p.Pro689Ser)
c.2319C>T
c.1561C>T (p.Pro521Ser)
c.1942C>T (p.Pro648Ser)
c.1606+214C>T (n.1606+214C>T)
c.1684C>T (p.Pro562Ser)
n.2075C>T
n.2182C>T
n.2042C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120448C>ACA404093758LDLRc.2324C>A (p.Pro775His)
c.*135C>A (n.*135C>A)
c.1946C>A (p.Pro649His)
c.2066C>A (p.Pro689His)
c.2320C>A
c.1562C>A (p.Pro521His)
c.1943C>A (p.Pro648His)
c.1606+215C>A (n.1606+215C>A)
c.1685C>A (p.Pro562His)
n.2076C>A
n.2183C>A
n.2043C>A
19g.11120448C>GCA404093756LDLRc.2324C>G (p.Pro775Arg)
c.*135C>G (n.*135C>G)
c.1946C>G (p.Pro649Arg)
c.2066C>G (p.Pro689Arg)
c.2320C>G
c.1562C>G (p.Pro521Arg)
c.1943C>G (p.Pro648Arg)
c.1606+215C>G (n.1606+215C>G)
c.1685C>G (p.Pro562Arg)
n.2076C>G
n.2183C>G
n.2043C>G
19g.11120448C>TCA404093754LDLRc.2324C>T (p.Pro775Leu)
c.*135C>T (n.*135C>T)
c.1946C>T (p.Pro649Leu)
c.2066C>T (p.Pro689Leu)
c.2320C>T
c.1562C>T (p.Pro521Leu)
c.1943C>T (p.Pro648Leu)
c.1606+215C>T (n.1606+215C>T)
c.1685C>T (p.Pro562Leu)
n.2076C>T
n.2183C>T
n.2043C>T
19g.11120449C>ACA505486543LDLRc.2325C>A (p.Pro775=)
c.*136C>A (n.*136C>A)
c.1947C>A (p.Pro649=)
c.2067C>A (p.Pro689=)
c.2321C>A
c.1563C>A (p.Pro521=)
c.1944C>A (p.Pro648=)
c.1606+216C>A (n.1606+216C>A)
c.1686C>A (p.Pro562=)
n.2077C>A
n.2184C>A
n.2044C>A
19g.11120449C=CA2322775608LDLRc.2325C= (p.Pro775=)
c.*136C= (n.*136C=)
c.1947C= (p.Pro649=)
c.2067C= (p.Pro689=)
c.2321C=
c.1563C= (p.Pro521=)
c.1944C= (p.Pro648=)
c.1606+216C= (n.1606+216C=)
c.1686C= (p.Pro562=)
n.2077C=
n.2184C=
n.2044C=
19g.11120449C>GCA505486544LDLRc.2325C>G (p.Pro775=)
c.*136C>G (n.*136C>G)
c.1947C>G (p.Pro649=)
c.2067C>G (p.Pro689=)
c.2321C>G
c.1563C>G (p.Pro521=)
c.1944C>G (p.Pro648=)
c.1606+216C>G (n.1606+216C>G)
c.1686C>G (p.Pro562=)
n.2077C>G
n.2184C>G
n.2044C>G
 gnomAD v4
19g.11120449C>TCA505486545LDLRc.2325C>T (p.Pro775=)
c.*136C>T (n.*136C>T)
c.1947C>T (p.Pro649=)
c.2067C>T (p.Pro689=)
c.2321C>T
c.1563C>T (p.Pro521=)
c.1944C>T (p.Pro648=)
c.1606+216C>T (n.1606+216C>T)
c.1686C>T (p.Pro562=)
n.2077C>T
n.2184C>T
n.2044C>T
 dbSNP gnomAD v2
19g.11120450C>ACA038426LDLRc.2326C>A (p.His776Asn)
c.*137C>A (n.*137C>A)
c.1948C>A (p.His650Asn)
c.2068C>A (p.His690Asn)
c.2322C>A
c.1564C>A (p.His522Asn)
c.1945C>A (p.His649Asn)
c.1606+217C>A (n.1606+217C>A)
c.1687C>A (p.His563Asn)
n.2078C>A
n.2185C>A
n.2045C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120450C=CA2322775609LDLRc.2326C= (p.His776=)
c.*137C= (n.*137C=)
c.1948C= (p.His650=)
c.2068C= (p.His690=)
c.2322C=
c.1564C= (p.His522=)
c.1945C= (p.His649=)
c.1606+217C= (n.1606+217C=)
c.1687C= (p.His563=)
n.2078C=
n.2185C=
n.2045C=
19g.11120450C>GCA10585758LDLRc.2326C>G (p.His776Asp)
c.*137C>G (n.*137C>G)
c.1948C>G (p.His650Asp)
c.2068C>G (p.His690Asp)
c.2322C>G
c.1564C>G (p.His522Asp)
c.1945C>G (p.His649Asp)
c.1606+217C>G (n.1606+217C>G)
c.1687C>G (p.His563Asp)
n.2078C>G
n.2185C>G
n.2045C>G
 ClinVar dbSNP
19g.11120450C>TCA404093764LDLRc.2326C>T (p.His776Tyr)
c.*137C>T (n.*137C>T)
c.1948C>T (p.His650Tyr)
c.2068C>T (p.His690Tyr)
c.2322C>T
c.1564C>T (p.His522Tyr)
c.1945C>T (p.His649Tyr)
c.1606+217C>T (n.1606+217C>T)
c.1687C>T (p.His563Tyr)
n.2078C>T
n.2185C>T
n.2045C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11120451_11120466dupCA2695228174LDLRc.2327_2342dup (p.Cys782LeufsTer26)
c.*138_*153dup (n.*138_*153dup)
c.1949_1964dup (p.Cys656LeufsTer26)
c.2069_2084dup (p.Cys696LeufsTer26)
c.2323_2338dup
c.1565_1580dup (p.Cys528LeufsTer26)
c.1946_1961dup (p.Cys655LeufsTer26)
c.1606+218_1606+233dup (n.1606+218_1606+233dup)
c.1688_1703dup (p.Cys569LeufsTer26)
n.2079_2094dup
n.2186_2201dup
n.2046_2061dup
19g.11120451A=CA2322775610LDLRc.2327A= (p.His776=)
c.*138A= (n.*138A=)
c.1949A= (p.His650=)
c.2069A= (p.His690=)
c.2323A=
c.1565A= (p.His522=)
c.1946A= (p.His649=)
c.1606+218A= (n.1606+218A=)
c.1688A= (p.His563=)
n.2079A=
n.2186A=
n.2046A=
19g.11120451A>CCA404093768LDLRc.2327A>C (p.His776Pro)
c.*138A>C (n.*138A>C)
c.1949A>C (p.His650Pro)
c.2069A>C (p.His690Pro)
c.2323A>C
c.1565A>C (p.His522Pro)
c.1946A>C (p.His649Pro)
c.1606+218A>C (n.1606+218A>C)
c.1688A>C (p.His563Pro)
n.2079A>C
n.2186A>C
n.2046A>C
 dbSNP
19g.11120451A>GCA404093769LDLRc.2327A>G (p.His776Arg)
c.*138A>G (n.*138A>G)
c.1949A>G (p.His650Arg)
c.2069A>G (p.His690Arg)
c.2323A>G
c.1565A>G (p.His522Arg)
c.1946A>G (p.His649Arg)
c.1606+218A>G (n.1606+218A>G)
c.1688A>G (p.His563Arg)
n.2079A>G
n.2186A>G
n.2046A>G
19g.11120451A>TCA404093772LDLRc.2327A>T (p.His776Leu)
c.*138A>T (n.*138A>T)
c.1949A>T (p.His650Leu)
c.2069A>T (p.His690Leu)
c.2323A>T
c.1565A>T (p.His522Leu)
c.1946A>T (p.His649Leu)
c.1606+218A>T (n.1606+218A>T)
c.1688A>T (p.His563Leu)
n.2079A>T
n.2186A>T
n.2046A>T
19g.11120452C>ACA404093775LDLRc.2328C>A (p.His776Gln)
c.*139C>A (n.*139C>A)
c.1950C>A (p.His650Gln)
c.2070C>A (p.His690Gln)
c.2324C>A
c.1566C>A (p.His522Gln)
c.1947C>A (p.His649Gln)
c.1606+219C>A (n.1606+219C>A)
c.1689C>A (p.His563Gln)
n.2080C>A
n.2187C>A
n.2047C>A
19g.11120452C=CA2322775611LDLRc.2328C= (p.His776=)
c.*139C= (n.*139C=)
c.1950C= (p.His650=)
c.2070C= (p.His690=)
c.2324C=
c.1566C= (p.His522=)
c.1947C= (p.His649=)
c.1606+219C= (n.1606+219C=)
c.1689C= (p.His563=)
n.2080C=
n.2187C=
n.2047C=
19g.11120452C>GCA404093778LDLRc.2328C>G (p.His776Gln)
c.*139C>G (n.*139C>G)
c.1950C>G (p.His650Gln)
c.2070C>G (p.His690Gln)
c.2324C>G
c.1566C>G (p.His522Gln)
c.1947C>G (p.His649Gln)
c.1606+219C>G (n.1606+219C>G)
c.1689C>G (p.His563Gln)
n.2080C>G
n.2187C>G
n.2047C>G
19g.11120452C>TCA038438LDLRc.2328C>T (p.His776=)
c.*139C>T (n.*139C>T)
c.1950C>T (p.His650=)
c.2070C>T (p.His690=)
c.2324C>T
c.1566C>T (p.His522=)
c.1947C>T (p.His649=)
c.1606+219C>T (n.1606+219C>T)
c.1689C>T (p.His563=)
n.2080C>T
n.2187C>T
n.2047C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120453T>ACA404093781LDLRc.2329T>A (p.Ser777Thr)
c.*140T>A (n.*140T>A)
c.1951T>A (p.Ser651Thr)
c.2071T>A (p.Ser691Thr)
c.2325T>A
c.1567T>A (p.Ser523Thr)
c.1948T>A (p.Ser650Thr)
c.1606+220T>A (n.1606+220T>A)
c.1690T>A (p.Ser564Thr)
n.2081T>A
n.2188T>A
n.2048T>A
19g.11120453T>CCA404093783LDLRc.2329T>C (p.Ser777Pro)
c.*140T>C (n.*140T>C)
c.1951T>C (p.Ser651Pro)
c.2071T>C (p.Ser691Pro)
c.2325T>C
c.1567T>C (p.Ser523Pro)
c.1948T>C (p.Ser650Pro)
c.1606+220T>C (n.1606+220T>C)
c.1690T>C (p.Ser564Pro)
n.2081T>C
n.2188T>C
n.2048T>C
19g.11120453T>GCA404093785LDLRc.2329T>G (p.Ser777Ala)
c.*140T>G (n.*140T>G)
c.1951T>G (p.Ser651Ala)
c.2071T>G (p.Ser691Ala)
c.2325T>G
c.1567T>G (p.Ser523Ala)
c.1948T>G (p.Ser650Ala)
c.1606+220T>G (n.1606+220T>G)
c.1690T>G (p.Ser564Ala)
n.2081T>G
n.2188T>G
n.2048T>G
19g.11120454C>ACA10585760LDLRc.2330C>A (p.Ser777Ter)
c.*141C>A (n.*141C>A)
c.1952C>A (p.Ser651Ter)
c.2072C>A (p.Ser691Ter)
c.2326C>A
c.1568C>A (p.Ser523Ter)
c.1949C>A (p.Ser650Ter)
c.1606+221C>A (n.1606+221C>A)
c.1691C>A (p.Ser564Ter)
n.2082C>A
n.2189C>A
n.2049C>A
 ClinVar dbSNP gnomAD v4
19g.11120454C=CA2322775612LDLRc.2330C= (p.Ser777=)
c.*141C= (n.*141C=)
c.1952C= (p.Ser651=)
c.2072C= (p.Ser691=)
c.2326C=
c.1568C= (p.Ser523=)
c.1949C= (p.Ser650=)
c.1606+221C= (n.1606+221C=)
c.1691C= (p.Ser564=)
n.2082C=
n.2189C=
n.2049C=
19g.11120454C>GCA404093788LDLRc.2330C>G (p.Ser777Trp)
c.*141C>G (n.*141C>G)
c.1952C>G (p.Ser651Trp)
c.2072C>G (p.Ser691Trp)
c.2326C>G
c.1568C>G (p.Ser523Trp)
c.1949C>G (p.Ser650Trp)
c.1606+221C>G (n.1606+221C>G)
c.1691C>G (p.Ser564Trp)
n.2082C>G
n.2189C>G
n.2049C>G
19g.11120454C>TCA038447LDLRc.2330C>T (p.Ser777Leu)
c.*141C>T (n.*141C>T)
c.1952C>T (p.Ser651Leu)
c.2072C>T (p.Ser691Leu)
c.2326C>T
c.1568C>T (p.Ser523Leu)
c.1949C>T (p.Ser650Leu)
c.1606+221C>T (n.1606+221C>T)
c.1691C>T (p.Ser564Leu)
n.2082C>T
n.2189C>T
n.2049C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120455G>ACA038453LDLRc.2331G>A (p.Ser777=)
c.*142G>A (n.*142G>A)
c.1953G>A (p.Ser651=)
c.2073G>A (p.Ser691=)
c.2327G>A
c.1569G>A (p.Ser523=)
c.1950G>A (p.Ser650=)
c.1606+222G>A (n.1606+222G>A)
c.1692G>A (p.Ser564=)
n.2083G>A
n.2190G>A
n.2050G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120455G>CCA505486553LDLRc.2331G>C (p.Ser777=)
c.*142G>C (n.*142G>C)
c.1953G>C (p.Ser651=)
c.2073G>C (p.Ser691=)
c.2327G>C
c.1569G>C (p.Ser523=)
c.1950G>C (p.Ser650=)
c.1606+222G>C (n.1606+222G>C)
c.1692G>C (p.Ser564=)
n.2083G>C
n.2190G>C
n.2050G>C
19g.11120455G=CA2322775613LDLRc.2331G= (p.Ser777=)
c.*142G= (n.*142G=)
c.1953G= (p.Ser651=)
c.2073G= (p.Ser691=)
c.2327G=
c.1569G= (p.Ser523=)
c.1950G= (p.Ser650=)
c.1606+222G= (n.1606+222G=)
c.1692G= (p.Ser564=)
n.2083G=
n.2190G=
n.2050G=
19g.11120455G>TCA038469LDLRc.2331G>T (p.Ser777=)
c.*142G>T (n.*142G>T)
c.1953G>T (p.Ser651=)
c.2073G>T (p.Ser691=)
c.2327G>T
c.1569G>T (p.Ser523=)
c.1950G>T (p.Ser650=)
c.1606+222G>T (n.1606+222G>T)
c.1692G>T (p.Ser564=)
n.2083G>T
n.2190G>T
n.2050G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120456C>ACA404093793LDLRc.2332C>A (p.Pro778Thr)
c.*143C>A (n.*143C>A)
c.1954C>A (p.Pro652Thr)
c.2074C>A (p.Pro692Thr)
c.2328C>A
c.1570C>A (p.Pro524Thr)
c.1951C>A (p.Pro651Thr)
c.1606+223C>A (n.1606+223C>A)
c.1693C>A (p.Pro565Thr)
n.2084C>A
n.2191C>A
n.2051C>A
19g.11120456C>GCA404093795LDLRc.2332C>G (p.Pro778Ala)
c.*143C>G (n.*143C>G)
c.1954C>G (p.Pro652Ala)
c.2074C>G (p.Pro692Ala)
c.2328C>G
c.1570C>G (p.Pro524Ala)
c.1951C>G (p.Pro651Ala)
c.1606+223C>G (n.1606+223C>G)
c.1693C>G (p.Pro565Ala)
n.2084C>G
n.2191C>G
n.2051C>G
19g.11120456C>TCA404093796LDLRc.2332C>T (p.Pro778Ser)
c.*143C>T (n.*143C>T)
c.1954C>T (p.Pro652Ser)
c.2074C>T (p.Pro692Ser)
c.2328C>T
c.1570C>T (p.Pro524Ser)
c.1951C>T (p.Pro651Ser)
c.1606+223C>T (n.1606+223C>T)
c.1693C>T (p.Pro565Ser)
n.2084C>T
n.2191C>T
n.2051C>T
19g.11120457C>ACA404093798LDLRc.2333C>A (p.Pro778His)
c.*144C>A (n.*144C>A)
c.1955C>A (p.Pro652His)
c.2075C>A (p.Pro692His)
c.2329C>A
c.1571C>A (p.Pro524His)
c.1952C>A (p.Pro651His)
c.1606+224C>A (n.1606+224C>A)
c.1694C>A (p.Pro565His)
n.2085C>A
n.2192C>A
n.2052C>A
19g.11120457C=CA2322775614LDLRc.2333C= (p.Pro778=)
c.*144C= (n.*144C=)
c.1955C= (p.Pro652=)
c.2075C= (p.Pro692=)
c.2329C=
c.1571C= (p.Pro524=)
c.1952C= (p.Pro651=)
c.1606+224C= (n.1606+224C=)
c.1694C= (p.Pro565=)
n.2085C=
n.2192C=
n.2052C=
19g.11120457C>GCA404093800LDLRc.2333C>G (p.Pro778Arg)
c.*144C>G (n.*144C>G)
c.1955C>G (p.Pro652Arg)
c.2075C>G (p.Pro692Arg)
c.2329C>G
c.1571C>G (p.Pro524Arg)
c.1952C>G (p.Pro651Arg)
c.1606+224C>G (n.1606+224C>G)
c.1694C>G (p.Pro565Arg)
n.2085C>G
n.2192C>G
n.2052C>G
 ClinVar dbSNP gnomAD v4
19g.11120457C>TCA404093802LDLRc.2333C>T (p.Pro778Leu)
c.*144C>T (n.*144C>T)
c.1955C>T (p.Pro652Leu)
c.2075C>T (p.Pro692Leu)
c.2329C>T
c.1571C>T (p.Pro524Leu)
c.1952C>T (p.Pro651Leu)
c.1606+224C>T (n.1606+224C>T)
c.1694C>T (p.Pro565Leu)
n.2085C>T
n.2192C>T
n.2052C>T
19g.11120458C>ACA505486561LDLRc.2334C>A (p.Pro778=)
c.*145C>A (n.*145C>A)
c.1956C>A (p.Pro652=)
c.2076C>A (p.Pro692=)
c.2330C>A
c.1572C>A (p.Pro524=)
c.1953C>A (p.Pro651=)
c.1606+225C>A (n.1606+225C>A)
c.1695C>A (p.Pro565=)
n.2086C>A
n.2193C>A
n.2053C>A
19g.11120458C=CA2322775616LDLRc.2334C= (p.Pro778=)
c.*145C= (n.*145C=)
c.1956C= (p.Pro652=)
c.2076C= (p.Pro692=)
c.2330C=
c.1572C= (p.Pro524=)
c.1953C= (p.Pro651=)
c.1606+225C= (n.1606+225C=)
c.1695C= (p.Pro565=)
n.2086C=
n.2193C=
n.2053C=
19g.11120458C>GCA505486562LDLRc.2334C>G (p.Pro778=)
c.*145C>G (n.*145C>G)
c.1956C>G (p.Pro652=)
c.2076C>G (p.Pro692=)
c.2330C>G
c.1572C>G (p.Pro524=)
c.1953C>G (p.Pro651=)
c.1606+225C>G (n.1606+225C>G)
c.1695C>G (p.Pro565=)
n.2086C>G
n.2193C>G
n.2053C>G
 ClinVar
19g.11120458C>TCA505486563LDLRc.2334C>T (p.Pro778=)
c.*145C>T (n.*145C>T)
c.1956C>T (p.Pro652=)
c.2076C>T (p.Pro692=)
c.2330C>T
c.1572C>T (p.Pro524=)
c.1953C>T (p.Pro651=)
c.1606+225C>T (n.1606+225C>T)
c.1695C>T (p.Pro565=)
n.2086C>T
n.2193C>T
n.2053C>T
19g.11120458_11120460delinsCAACA2322775615LDLRc.2334_2336delinsCAA (p.Pro778=)
c.*145_*147delinsCAA (n.*145_*147delinsCAA)
c.1956_1958delinsCAA (p.Pro652=)
c.2076_2078delinsCAA (p.Pro692=)
c.2330_2332delinsCAA
c.1572_1574delinsCAA (p.Pro524=)
c.1953_1955delinsCAA (p.Pro651=)
c.1606+225_1606+227delinsCAA (n.1606+225_1606+227delinsCAA)
c.1695_1697delinsCAA (p.Pro565=)
n.2086_2088delinsCAA
n.2193_2195delinsCAA
n.2053_2055delinsCAA
19g.11120459A>CCA404093809LDLRc.2335A>C (p.Lys779Gln)
c.*146A>C (n.*146A>C)
c.1957A>C (p.Lys653Gln)
c.2077A>C (p.Lys693Gln)
c.2331A>C
c.1573A>C (p.Lys525Gln)
c.1954A>C (p.Lys652Gln)
c.1606+226A>C (n.1606+226A>C)
c.1696A>C (p.Lys566Gln)
n.2087A>C
n.2194A>C
n.2054A>C
 ClinVar
19g.11120459A>GCA404093807LDLRc.2335A>G (p.Lys779Glu)
c.*146A>G (n.*146A>G)
c.1957A>G (p.Lys653Glu)
c.2077A>G (p.Lys693Glu)
c.2331A>G
c.1573A>G (p.Lys525Glu)
c.1954A>G (p.Lys652Glu)
c.1606+226A>G (n.1606+226A>G)
c.1696A>G (p.Lys566Glu)
n.2087A>G
n.2194A>G
n.2054A>G
19g.11120459A>TCA404093811LDLRc.2335A>T (p.Lys779Ter)
c.*146A>T (n.*146A>T)
c.1957A>T (p.Lys653Ter)
c.2077A>T (p.Lys693Ter)
c.2331A>T
c.1573A>T (p.Lys525Ter)
c.1954A>T (p.Lys652Ter)
c.1606+226A>T (n.1606+226A>T)
c.1696A>T (p.Lys566Ter)
n.2087A>T
n.2194A>T
n.2054A>T
19g.11120459_11120460delCA10585761LDLRc.2335_2336del (p.Lys779ValfsTer23)
c.*146_*147del (n.*146_*147del)
c.1957_1958del (p.Lys653ValfsTer23)
c.2077_2078del (p.Lys693ValfsTer23)
c.2331_2332del
c.1573_1574del (p.Lys525ValfsTer23)
c.1954_1955del (p.Lys652ValfsTer23)
c.1606+226_1606+227del (n.1606+226_1606+227del)
c.1696_1697del (p.Lys566ValfsTer23)
n.2087_2088del
n.2194_2195del
n.2054_2055del
 ClinVar dbSNP
19g.11120460dupCA16602345LDLRc.2336dup (p.Phe780ValfsTer23)
c.*147dup (n.*147dup)
c.1958dup (p.Phe654ValfsTer23)
c.2078dup (p.Phe694ValfsTer23)
c.2332dup
c.1574dup (p.Phe526ValfsTer23)
c.1955dup (p.Phe653ValfsTer23)
c.1606+227dup (n.1606+227dup)
c.1697dup (p.Phe567ValfsTer23)
n.2088dup
n.2195dup
n.2055dup
 ClinVar dbSNP
19g.11120460A=CA2322775617LDLRc.2336A= (p.Lys779=)
c.*147A= (n.*147A=)
c.1958A= (p.Lys653=)
c.2078A= (p.Lys693=)
c.2332A=
c.1574A= (p.Lys525=)
c.1955A= (p.Lys652=)
c.1606+227A= (n.1606+227A=)
c.1697A= (p.Lys566=)
n.2088A=
n.2195A=
n.2055A=
19g.11120460A>CCA404093817LDLRc.2336A>C (p.Lys779Thr)
c.*147A>C (n.*147A>C)
c.1958A>C (p.Lys653Thr)
c.2078A>C (p.Lys693Thr)
c.2332A>C
c.1574A>C (p.Lys525Thr)
c.1955A>C (p.Lys652Thr)
c.1606+227A>C (n.1606+227A>C)
c.1697A>C (p.Lys566Thr)
n.2088A>C
n.2195A>C
n.2055A>C
 gnomAD v4
19g.11120460A>GCA404093815LDLRc.2336A>G (p.Lys779Arg)
c.*147A>G (n.*147A>G)
c.1958A>G (p.Lys653Arg)
c.2078A>G (p.Lys693Arg)
c.2332A>G
c.1574A>G (p.Lys525Arg)
c.1955A>G (p.Lys652Arg)
c.1606+227A>G (n.1606+227A>G)
c.1697A>G (p.Lys566Arg)
n.2088A>G
n.2195A>G
n.2055A>G
 dbSNP gnomAD v3 gnomAD v4
19g.11120460A>TCA404093819LDLRc.2336A>T (p.Lys779Met)
c.*147A>T (n.*147A>T)
c.1958A>T (p.Lys653Met)
c.2078A>T (p.Lys693Met)
c.2332A>T
c.1574A>T (p.Lys525Met)
c.1955A>T (p.Lys652Met)
c.1606+227A>T (n.1606+227A>T)
c.1697A>T (p.Lys566Met)
n.2088A>T
n.2195A>T
n.2055A>T
 dbSNP gnomAD v3 gnomAD v4
19g.11120461_11120465delCA2497030147LDLRc.2337_2341del (p.Lys779AsnfsTer22)
c.*148_*152del (n.*148_*152del)
c.1959_1963del (p.Lys653AsnfsTer22)
c.2079_2083del (p.Lys693AsnfsTer22)
c.2333_2337del
c.1575_1579del (p.Lys525AsnfsTer22)
c.1956_1960del (p.Lys652AsnfsTer22)
c.1606+228_1606+232del (n.1606+228_1606+232del)
c.1698_1702del (p.Lys566AsnfsTer22)
n.2089_2093del
n.2196_2200del
n.2056_2060del
19g.11120461G>ACA038481LDLRc.2337G>A (p.Lys779=)
c.*148G>A (n.*148G>A)
c.1959G>A (p.Lys653=)
c.2079G>A (p.Lys693=)
c.2333G>A
c.1575G>A (p.Lys525=)
c.1956G>A (p.Lys652=)
c.1606+228G>A (n.1606+228G>A)
c.1698G>A (p.Lys566=)
n.2089G>A
n.2196G>A
n.2056G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120461G>CCA404093826LDLRc.2337G>C (p.Lys779Asn)
c.*148G>C (n.*148G>C)
c.1959G>C (p.Lys653Asn)
c.2079G>C (p.Lys693Asn)
c.2333G>C
c.1575G>C (p.Lys525Asn)
c.1956G>C (p.Lys652Asn)
c.1606+228G>C (n.1606+228G>C)
c.1698G>C (p.Lys566Asn)
n.2089G>C
n.2196G>C
n.2056G>C
19g.11120461G=CA2322775618LDLRc.2337G= (p.Lys779=)
c.*148G= (n.*148G=)
c.1959G= (p.Lys653=)
c.2079G= (p.Lys693=)
c.2333G=
c.1575G= (p.Lys525=)
c.1956G= (p.Lys652=)
c.1606+228G= (n.1606+228G=)
c.1698G= (p.Lys566=)
n.2089G=
n.2196G=
n.2056G=
19g.11120461G>TCA404093823LDLRc.2337G>T (p.Lys779Asn)
c.*148G>T (n.*148G>T)
c.1959G>T (p.Lys653Asn)
c.2079G>T (p.Lys693Asn)
c.2333G>T
c.1575G>T (p.Lys525Asn)
c.1956G>T (p.Lys652Asn)
c.1606+228G>T (n.1606+228G>T)
c.1698G>T (p.Lys566Asn)
n.2089G>T
n.2196G>T
n.2056G>T
19g.11120462T>ACA404093828LDLRc.2338T>A (p.Phe780Ile)
c.*149T>A (n.*149T>A)
c.1960T>A (p.Phe654Ile)
c.2080T>A (p.Phe694Ile)
c.2334T>A
c.1576T>A (p.Phe526Ile)
c.1957T>A (p.Phe653Ile)
c.1606+229T>A (n.1606+229T>A)
c.1699T>A (p.Phe567Ile)
n.2090T>A
n.2197T>A
n.2057T>A
19g.11120462T>CCA404093831LDLRc.2338T>C (p.Phe780Leu)
c.*149T>C (n.*149T>C)
c.1960T>C (p.Phe654Leu)
c.2080T>C (p.Phe694Leu)
c.2334T>C
c.1576T>C (p.Phe526Leu)
c.1957T>C (p.Phe653Leu)
c.1606+229T>C (n.1606+229T>C)
c.1699T>C (p.Phe567Leu)
n.2090T>C
n.2197T>C
n.2057T>C
19g.11120462T>GCA10585762LDLRc.2338T>G (p.Phe780Val)
c.*149T>G (n.*149T>G)
c.1960T>G (p.Phe654Val)
c.2080T>G (p.Phe694Val)
c.2334T>G
c.1576T>G (p.Phe526Val)
c.1957T>G (p.Phe653Val)
c.1606+229T>G (n.1606+229T>G)
c.1699T>G (p.Phe567Val)
n.2090T>G
n.2197T>G
n.2057T>G
 ClinVar dbSNP
19g.11120462T=CA2322775619LDLRc.2338T= (p.Phe780=)
c.*149T= (n.*149T=)
c.1960T= (p.Phe654=)
c.2080T= (p.Phe694=)
c.2334T=
c.1576T= (p.Phe526=)
c.1957T= (p.Phe653=)
c.1606+229T= (n.1606+229T=)
c.1699T= (p.Phe567=)
n.2090T=
n.2197T=
n.2057T=
19g.11120463T>ACA404093834LDLRc.2339T>A (p.Phe780Tyr)
c.*150T>A (n.*150T>A)
c.1961T>A (p.Phe654Tyr)
c.2081T>A (p.Phe694Tyr)
c.2335T>A
c.1577T>A (p.Phe526Tyr)
c.1958T>A (p.Phe653Tyr)
c.1606+230T>A (n.1606+230T>A)
c.1700T>A (p.Phe567Tyr)
n.2091T>A
n.2198T>A
n.2058T>A
19g.11120463T>CCA404093838LDLRc.2339T>C (p.Phe780Ser)
c.*150T>C (n.*150T>C)
c.1961T>C (p.Phe654Ser)
c.2081T>C (p.Phe694Ser)
c.2335T>C
c.1577T>C (p.Phe526Ser)
c.1958T>C (p.Phe653Ser)
c.1606+230T>C (n.1606+230T>C)
c.1700T>C (p.Phe567Ser)
n.2091T>C
n.2198T>C
n.2058T>C
19g.11120463T>GCA404093836LDLRc.2339T>G (p.Phe780Cys)
c.*150T>G (n.*150T>G)
c.1961T>G (p.Phe654Cys)
c.2081T>G (p.Phe694Cys)
c.2335T>G
c.1577T>G (p.Phe526Cys)
c.1958T>G (p.Phe653Cys)
c.1606+230T>G (n.1606+230T>G)
c.1700T>G (p.Phe567Cys)
n.2091T>G
n.2198T>G
n.2058T>G
19g.11120464T>ACA404093840LDLRc.2340T>A (p.Phe780Leu)
c.*151T>A (n.*151T>A)
c.1962T>A (p.Phe654Leu)
c.2082T>A (p.Phe694Leu)
c.2336T>A
c.1578T>A (p.Phe526Leu)
c.1959T>A (p.Phe653Leu)
c.1606+231T>A (n.1606+231T>A)
c.1701T>A (p.Phe567Leu)
n.2092T>A
n.2199T>A
n.2059T>A
19g.11120464T>CCA505486570LDLRc.2340T>C (p.Phe780=)
c.*151T>C (n.*151T>C)
c.1962T>C (p.Phe654=)
c.2082T>C (p.Phe694=)
c.2336T>C
c.1578T>C (p.Phe526=)
c.1959T>C (p.Phe653=)
c.1606+231T>C (n.1606+231T>C)
c.1701T>C (p.Phe567=)
n.2092T>C
n.2199T>C
n.2059T>C
 gnomAD v4
19g.11120464T>GCA404093842LDLRc.2340T>G (p.Phe780Leu)
c.*151T>G (n.*151T>G)
c.1962T>G (p.Phe654Leu)
c.2082T>G (p.Phe694Leu)
c.2336T>G
c.1578T>G (p.Phe526Leu)
c.1959T>G (p.Phe653Leu)
c.1606+231T>G (n.1606+231T>G)
c.1701T>G (p.Phe567Leu)
n.2092T>G
n.2199T>G
n.2059T>G
19g.11120464_11120481delCA2573050619LDLRc.2340_2357del (p.Thr781_Asp786del)
c.*151_*168del (n.*151_*168del)
c.1962_1979del (p.Thr655_Asp660del)
c.2082_2099del (p.Thr695_Asp700del)
c.2336_2353del
c.1578_1595del (p.Thr527_Asp532del)
c.1959_1976del (p.Thr654_Asp659del)
c.1606+231_1606+248del (n.1606+231_1606+248del)
c.1701_1718del (p.Thr568_Asp573del)
n.2092_2109del
n.2199_2216del
n.2059_2076del
19g.11120465A=CA2322775622LDLRc.2341A= (p.Thr781=)
c.*152A= (n.*152A=)
c.1963A= (p.Thr655=)
c.2083A= (p.Thr695=)
c.2337A=
c.1579A= (p.Thr527=)
c.1960A= (p.Thr654=)
c.1606+232A= (n.1606+232A=)
c.1702A= (p.Thr568=)
n.2093A=
n.2200A=
n.2060A=
19g.11120465A>CCA404093845LDLRc.2341A>C (p.Thr781Pro)
c.*152A>C (n.*152A>C)
c.1963A>C (p.Thr655Pro)
c.2083A>C (p.Thr695Pro)
c.2337A>C
c.1579A>C (p.Thr527Pro)
c.1960A>C (p.Thr654Pro)
c.1606+232A>C (n.1606+232A>C)
c.1702A>C (p.Thr568Pro)
n.2093A>C
n.2200A>C
n.2060A>C
 ClinVar dbSNP
19g.11120465A>GCA404093848LDLRc.2341A>G (p.Thr781Ala)
c.*152A>G (n.*152A>G)
c.1963A>G (p.Thr655Ala)
c.2083A>G (p.Thr695Ala)
c.2337A>G
c.1579A>G (p.Thr527Ala)
c.1960A>G (p.Thr654Ala)
c.1606+232A>G (n.1606+232A>G)
c.1702A>G (p.Thr568Ala)
n.2093A>G
n.2200A>G
n.2060A>G
 ClinVar dbSNP
19g.11120465A>TCA404093850LDLRc.2341A>T (p.Thr781Ser)
c.*152A>T (n.*152A>T)
c.1963A>T (p.Thr655Ser)
c.2083A>T (p.Thr695Ser)
c.2337A>T
c.1579A>T (p.Thr527Ser)
c.1960A>T (p.Thr654Ser)
c.1606+232A>T (n.1606+232A>T)
c.1702A>T (p.Thr568Ser)
n.2093A>T
n.2200A>T
n.2060A>T
19g.11120465_11120466delinsACCA2322775621LDLRc.2341_2342delinsAC (p.Thr781=)
c.*152_*153delinsAC (n.*152_*153delinsAC)
c.1963_1964delinsAC (p.Thr655=)
c.2083_2084delinsAC (p.Thr695=)
c.2337_2338delinsAC
c.1579_1580delinsAC (p.Thr527=)
c.1960_1961delinsAC (p.Thr654=)
c.1606+232_1606+233delinsAC (n.1606+232_1606+233delinsAC)
c.1702_1703delinsAC (p.Thr568=)
n.2093_2094delinsAC
n.2200_2201delinsAC
n.2060_2061delinsAC
19g.11120465_11120484delinsACCTGCGCCTGCCCGGACGGCA2322775620LDLRc.2341_2360delinsACCTGCGCCTGCCCGGACGG (p.Thr781=)
c.*152_*171delinsACCTGCGCCTGCCCGGACGG (n.*152_*171delinsACCTGCGCCTGCCCGGACGG)
c.1963_1982delinsACCTGCGCCTGCCCGGACGG (p.Thr655=)
c.2083_2102delinsACCTGCGCCTGCCCGGACGG (p.Thr695=)
c.2337_2356delinsACCTGCGCCTGCCCGGACGG
c.1579_1598delinsACCTGCGCCTGCCCGGACGG (p.Thr527=)
c.1960_1979delinsACCTGCGCCTGCCCGGACGG (p.Thr654=)
c.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG (n.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG)
c.1702_1721delinsACCTGCGCCTGCCCGGACGG (p.Thr568=)
n.2093_2112delinsACCTGCGCCTGCCCGGACGG
n.2200_2219delinsACCTGCGCCTGCCCGGACGG
n.2060_2079delinsACCTGCGCCTGCCCGGACGG
19g.11120466C>ACA404093853LDLRc.2342C>A (p.Thr781Asn)
c.*153C>A (n.*153C>A)
c.1964C>A (p.Thr655Asn)
c.2084C>A (p.Thr695Asn)
c.2338C>A
c.1580C>A (p.Thr527Asn)
c.1961C>A (p.Thr654Asn)
c.1606+233C>A (n.1606+233C>A)
c.1703C>A (p.Thr568Asn)
n.2094C>A
n.2201C>A
n.2061C>A
 gnomAD v4
19g.11120466C>GCA404093855LDLRc.2342C>G (p.Thr781Ser)
c.*153C>G (n.*153C>G)
c.1964C>G (p.Thr655Ser)
c.2084C>G (p.Thr695Ser)
c.2338C>G
c.1580C>G (p.Thr527Ser)
c.1961C>G (p.Thr654Ser)
c.1606+233C>G (n.1606+233C>G)
c.1703C>G (p.Thr568Ser)
n.2094C>G
n.2201C>G
n.2061C>G
19g.11120466C>TCA404093857LDLRc.2342C>T (p.Thr781Ile)
c.*153C>T (n.*153C>T)
c.1964C>T (p.Thr655Ile)
c.2084C>T (p.Thr695Ile)
c.2338C>T
c.1580C>T (p.Thr527Ile)
c.1961C>T (p.Thr654Ile)
c.1606+233C>T (n.1606+233C>T)
c.1703C>T (p.Thr568Ile)
n.2094C>T
n.2201C>T
n.2061C>T
19g.11120467delCA16602346LDLRc.2343del (p.Cys782AlafsTer13)
c.*154del (n.*154del)
c.1965del (p.Cys656AlafsTer13)
c.2085del (p.Cys696AlafsTer13)
c.2339del
c.1581del (p.Cys528AlafsTer13)
c.1962del (p.Cys655AlafsTer13)
c.1606+234del (n.1606+234del)
c.1704del (p.Cys569AlafsTer13)
n.2095del
n.2202del
n.2062del
 ClinVar dbSNP
19g.11120467_11120485delCA10585763LDLRc.2343_2361del (p.Ala783CysfsTer6)
c.*154_*172del (n.*154_*172del)
c.1965_1983del (p.Ala657CysfsTer6)
c.2085_2103del (p.Ala697CysfsTer6)
c.2339_2357del
c.1581_1599del (p.Ala529CysfsTer6)
c.1962_1980del (p.Ala656CysfsTer6)
c.1606+234_1606+252del (n.1606+234_1606+252del)
c.1704_1722del (p.Ala570CysfsTer6)
n.2095_2113del
n.2202_2220del
n.2062_2080del
 ClinVar dbSNP
19g.11120467C>ACA505486572LDLRc.2343C>A (p.Thr781=)
c.*154C>A (n.*154C>A)
c.1965C>A (p.Thr655=)
c.2085C>A (p.Thr695=)
c.2339C>A
c.1581C>A (p.Thr527=)
c.1962C>A (p.Thr654=)
c.1606+234C>A (n.1606+234C>A)
c.1704C>A (p.Thr568=)
n.2095C>A
n.2202C>A
n.2062C>A
19g.11120467C>GCA505486574LDLRc.2343C>G (p.Thr781=)
c.*154C>G (n.*154C>G)
c.1965C>G (p.Thr655=)
c.2085C>G (p.Thr695=)
c.2339C>G
c.1581C>G (p.Thr527=)
c.1962C>G (p.Thr654=)
c.1606+234C>G (n.1606+234C>G)
c.1704C>G (p.Thr568=)
n.2095C>G
n.2202C>G
n.2062C>G
19g.11120467C>TCA505486576LDLRc.2343C>T (p.Thr781=)
c.*154C>T (n.*154C>T)
c.1965C>T (p.Thr655=)
c.2085C>T (p.Thr695=)
c.2339C>T
c.1581C>T (p.Thr527=)
c.1962C>T (p.Thr654=)
c.1606+234C>T (n.1606+234C>T)
c.1704C>T (p.Thr568=)
n.2095C>T
n.2202C>T
n.2062C>T
 ClinVar
19g.11120468T>ACA404093862LDLRc.2344T>A (p.Cys782Ser)
c.*155T>A (n.*155T>A)
c.1966T>A (p.Cys656Ser)
c.2086T>A (p.Cys696Ser)
c.2340T>A
c.1582T>A (p.Cys528Ser)
c.1963T>A (p.Cys655Ser)
c.1606+235T>A (n.1606+235T>A)
c.1705T>A (p.Cys569Ser)
n.2096T>A
n.2203T>A
n.2063T>A
 ClinVar
19g.11120468T>CCA404093864LDLRc.2344T>C (p.Cys782Arg)
c.*155T>C (n.*155T>C)
c.1966T>C (p.Cys656Arg)
c.2086T>C (p.Cys696Arg)
c.2340T>C
c.1582T>C (p.Cys528Arg)
c.1963T>C (p.Cys655Arg)
c.1606+235T>C (n.1606+235T>C)
c.1705T>C (p.Cys569Arg)
n.2096T>C
n.2203T>C
n.2063T>C
 ClinVar dbSNP
19g.11120468T>GCA404093866LDLRc.2344T>G (p.Cys782Gly)
c.*155T>G (n.*155T>G)
c.1966T>G (p.Cys656Gly)
c.2086T>G (p.Cys696Gly)
c.2340T>G
c.1582T>G (p.Cys528Gly)
c.1963T>G (p.Cys655Gly)
c.1606+235T>G (n.1606+235T>G)
c.1705T>G (p.Cys569Gly)
n.2096T>G
n.2203T>G
n.2063T>G
 ClinVar
19g.11120468T=CA2322775623LDLRc.2344T= (p.Cys782=)
c.*155T= (n.*155T=)
c.1966T= (p.Cys656=)
c.2086T= (p.Cys696=)
c.2340T=
c.1582T= (p.Cys528=)
c.1963T= (p.Cys655=)
c.1606+235T= (n.1606+235T=)
c.1705T= (p.Cys569=)
n.2096T=
n.2203T=
n.2063T=
19g.11120469G>ACA10585764LDLRc.2345G>A (p.Cys782Tyr)
c.*156G>A (n.*156G>A)
c.1967G>A (p.Cys656Tyr)
c.2087G>A (p.Cys696Tyr)
c.2341G>A
c.1583G>A (p.Cys528Tyr)
c.1964G>A (p.Cys655Tyr)
c.1606+236G>A (n.1606+236G>A)
c.1706G>A (p.Cys569Tyr)
n.2097G>A
n.2204G>A
n.2064G>A
 ClinVar dbSNP gnomAD v4
19g.11120469G>CCA404093870LDLRc.2345G>C (p.Cys782Ser)
c.*156G>C (n.*156G>C)
c.1967G>C (p.Cys656Ser)
c.2087G>C (p.Cys696Ser)
c.2341G>C
c.1583G>C (p.Cys528Ser)
c.1964G>C (p.Cys655Ser)
c.1606+236G>C (n.1606+236G>C)
c.1706G>C (p.Cys569Ser)
n.2097G>C
n.2204G>C
n.2064G>C
19g.11120469G=CA2322775624LDLRc.2345G= (p.Cys782=)
c.*156G= (n.*156G=)
c.1967G= (p.Cys656=)
c.2087G= (p.Cys696=)
c.2341G=
c.1583G= (p.Cys528=)
c.1964G= (p.Cys655=)
c.1606+236G= (n.1606+236G=)
c.1706G= (p.Cys569=)
n.2097G=
n.2204G=
n.2064G=
19g.11120469G>TCA404093868LDLRc.2345G>T (p.Cys782Phe)
c.*156G>T (n.*156G>T)
c.1967G>T (p.Cys656Phe)
c.2087G>T (p.Cys696Phe)
c.2341G>T
c.1583G>T (p.Cys528Phe)
c.1964G>T (p.Cys655Phe)
c.1606+236G>T (n.1606+236G>T)
c.1706G>T (p.Cys569Phe)
n.2097G>T
n.2204G>T
n.2064G>T
 ClinVar dbSNP
19g.11120470C>ACA10585765LDLRc.2346C>A (p.Cys782Ter)
c.*157C>A (n.*157C>A)
c.1968C>A (p.Cys656Ter)
c.2088C>A (p.Cys696Ter)
c.2342C>A
c.1584C>A (p.Cys528Ter)
c.1965C>A (p.Cys655Ter)
c.1606+237C>A (n.1606+237C>A)
c.1707C>A (p.Cys569Ter)
n.2098C>A
n.2205C>A
n.2065C>A
 ClinVar dbSNP gnomAD v4
19g.11120470C=CA2322775625LDLRc.2346C= (p.Cys782=)
c.*157C= (n.*157C=)
c.1968C= (p.Cys656=)
c.2088C= (p.Cys696=)
c.2342C=
c.1584C= (p.Cys528=)
c.1965C= (p.Cys655=)
c.1606+237C= (n.1606+237C=)
c.1707C= (p.Cys569=)
n.2098C=
n.2205C=
n.2065C=
19g.11120470C>GCA10585766LDLRc.2346C>G (p.Cys782Trp)
c.*157C>G (n.*157C>G)
c.1968C>G (p.Cys656Trp)
c.2088C>G (p.Cys696Trp)
c.2342C>G
c.1584C>G (p.Cys528Trp)
c.1965C>G (p.Cys655Trp)
c.1606+237C>G (n.1606+237C>G)
c.1707C>G (p.Cys569Trp)
n.2098C>G
n.2205C>G
n.2065C>G
 ClinVar dbSNP
19g.11120470C>TCA038494LDLRc.2346C>T (p.Cys782=)
c.*157C>T (n.*157C>T)
c.1968C>T (p.Cys656=)
c.2088C>T (p.Cys696=)
c.2342C>T
c.1584C>T (p.Cys528=)
c.1965C>T (p.Cys655=)
c.1606+237C>T (n.1606+237C>T)
c.1707C>T (p.Cys569=)
n.2098C>T
n.2205C>T
n.2065C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11120471G>ACA038513LDLRc.2347G>A (p.Ala783Thr)
c.*158G>A (n.*158G>A)
c.1969G>A (p.Ala657Thr)
c.2089G>A (p.Ala697Thr)
c.2343G>A
c.1585G>A (p.Ala529Thr)
c.1966G>A (p.Ala656Thr)
c.1606+238G>A (n.1606+238G>A)
c.1708G>A (p.Ala570Thr)
n.2099G>A
n.2206G>A
n.2066G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11120471G>CCA10585767LDLRc.2347G>C (p.Ala783Pro)
c.*158G>C (n.*158G>C)
c.1969G>C (p.Ala657Pro)
c.2089G>C (p.Ala697Pro)
c.2343G>C
c.1585G>C (p.Ala529Pro)
c.1966G>C (p.Ala656Pro)
c.1606+238G>C (n.1606+238G>C)
c.1708G>C (p.Ala570Pro)
n.2099G>C
n.2206G>C
n.2066G>C
 ClinVar dbSNP
19g.11120471G=CA2322775626LDLRc.2347G= (p.Ala783=)
c.*158G= (n.*158G=)
c.1969G= (p.Ala657=)
c.2089G= (p.Ala697=)
c.2343G=
c.1585G= (p.Ala529=)
c.1966G= (p.Ala656=)
c.1606+238G= (n.1606+238G=)
c.1708G= (p.Ala570=)
n.2099G=
n.2206G=
n.2066G=
19g.11120471G>TCA404093880LDLRc.2347G>T (p.Ala783Ser)
c.*158G>T (n.*158G>T)
c.1969G>T (p.Ala657Ser)
c.2089G>T (p.Ala697Ser)
c.2343G>T
c.1585G>T (p.Ala529Ser)
c.1966G>T (p.Ala656Ser)
c.1606+238G>T (n.1606+238G>T)
c.1708G>T (p.Ala570Ser)
n.2099G>T
n.2206G>T
n.2066G>T

Number of alleles fetched