Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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_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.11122220_11129195delCA2573320454LDLRc.2399-954_2648-318del
c.*210-954_*459-318del
c.2021-954_2270-318del
c.2141-954_2390-318del
c.2395-954_2644-318del
c.1637-954_1886-318del
c.2018-954_2267-318del
c.1607-954_1856-318del
c.2141-954_2390-256del
c.2141-954_2312-318del
c.1760-954_2009-318del
n.2151-954_2400-318del
n.2475-954_2724-318del
n.2118-954_2367-318del
19g.11123164_11123167delinsATTCCA2322777159LDLRc.2399-10_2399-7delinsATTC (n.2399-10_2399-7delinsATTC)
c.*210-10_*210-7delinsATTC (n.*210-10_*210-7delinsATTC)
c.2021-10_2021-7delinsATTC (n.2021-10_2021-7delinsATTC)
c.2141-10_2141-7delinsATTC (n.2141-10_2141-7delinsATTC)
c.2395-10_2395-7delinsATTC
c.1637-10_1637-7delinsATTC (n.1637-10_1637-7delinsATTC)
c.2018-10_2018-7delinsATTC (n.2018-10_2018-7delinsATTC)
c.1607-10_1607-7delinsATTC (n.1607-10_1607-7delinsATTC)
c.1760-10_1760-7delinsATTC (n.1760-10_1760-7delinsATTC)
n.2151-10_2151-7delinsATTC
n.2475-10_2475-7delinsATTC
n.2118-10_2118-7delinsATTC
19g.11123167_11123169delCA039020LDLRc.2399-7_2399-5del (n.2399-7_2399-5del)
c.*210-7_*210-5del (n.*210-7_*210-5del)
c.2021-7_2021-5del (n.2021-7_2021-5del)
c.2141-7_2141-5del (n.2141-7_2141-5del)
c.2395-7_2395-5del
c.1637-7_1637-5del (n.1637-7_1637-5del)
c.2018-7_2018-5del (n.2018-7_2018-5del)
c.1607-7_1607-5del (n.1607-7_1607-5del)
c.1760-7_1760-5del (n.1760-7_1760-5del)
n.2151-7_2151-5del
n.2475-7_2475-5del
n.2118-7_2118-5del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123167C>ACA2573156037LDLRc.2399-7C>A (n.2399-7C>A)
c.*210-7C>A (n.*210-7C>A)
c.2021-7C>A (n.2021-7C>A)
c.2141-7C>A (n.2141-7C>A)
c.2395-7C>A
c.1637-7C>A (n.1637-7C>A)
c.2018-7C>A (n.2018-7C>A)
c.1607-7C>A (n.1607-7C>A)
c.1760-7C>A (n.1760-7C>A)
n.2151-7C>A
n.2475-7C>A
n.2118-7C>A
 ClinVar dbSNP
19g.11123170delCA2582475467LDLRc.2399-4del (n.2399-4del)
c.*210-4del (n.*210-4del)
c.2021-4del (n.2021-4del)
c.2141-4del (n.2141-4del)
c.2395-4del
c.1637-4del (n.1637-4del)
c.2018-4del (n.2018-4del)
c.1607-4del (n.1607-4del)
c.1760-4del (n.1760-4del)
n.2151-4del
n.2475-4del
n.2118-4del
 gnomAD v4
19g.11123169T>CCA2580613048LDLRc.2399-5T>C (n.2399-5T>C)
c.*210-5T>C (n.*210-5T>C)
c.2021-5T>C (n.2021-5T>C)
c.2141-5T>C (n.2141-5T>C)
c.2395-5T>C
c.1637-5T>C (n.1637-5T>C)
c.2018-5T>C (n.2018-5T>C)
c.1607-5T>C (n.1607-5T>C)
c.1760-5T>C (n.1760-5T>C)
n.2151-5T>C
n.2475-5T>C
n.2118-5T>C
 ClinVar
19g.11123171C>ACA2573050623LDLRc.2399-3C>A (n.2399-3C>A)
c.*210-3C>A (n.*210-3C>A)
c.2021-3C>A (n.2021-3C>A)
c.2141-3C>A (n.2141-3C>A)
c.2395-3C>A
c.1637-3C>A (n.1637-3C>A)
c.2018-3C>A (n.2018-3C>A)
c.1607-3C>A (n.1607-3C>A)
c.1760-3C>A (n.1760-3C>A)
n.2151-3C>A
n.2475-3C>A
n.2118-3C>A
19g.11123171_11123342delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCACA2322777160LDLRc.2399-3_2567delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.*210-3_*378delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.2021-3_2189delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.2141-3_2309delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.2395-3_2563delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.1637-3_1805delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.2018-3_2186delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.1607-3_1775delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.1760-3_1928delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
n.2151-3_2319delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
n.2475-3_2643delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
n.2118-3_2286delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
19g.11123172delCA2695228315LDLRc.2399-2del (n.2399-2del)
c.*210-2del (n.*210-2del)
c.2021-2del (n.2021-2del)
c.2141-2del (n.2141-2del)
c.2395-2del
c.1637-2del (n.1637-2del)
c.2018-2del (n.2018-2del)
c.1607-2del (n.1607-2del)
c.1760-2del (n.1760-2del)
n.2151-2del
n.2475-2del
n.2118-2del
19g.11123172A=CA2322777161LDLRc.2399-2A= (n.2399-2A=)
c.*210-2A= (n.*210-2A=)
c.2021-2A= (n.2021-2A=)
c.2141-2A= (n.2141-2A=)
c.2395-2A=
c.1637-2A= (n.1637-2A=)
c.2018-2A= (n.2018-2A=)
c.1607-2A= (n.1607-2A=)
c.1760-2A= (n.1760-2A=)
n.2151-2A=
n.2475-2A=
n.2118-2A=
19g.11123172A>CCA404094721LDLRc.2399-2A>C (n.2399-2A>C)
c.*210-2A>C (n.*210-2A>C)
c.2021-2A>C (n.2021-2A>C)
c.2141-2A>C (n.2141-2A>C)
c.2395-2A>C
c.1637-2A>C (n.1637-2A>C)
c.2018-2A>C (n.2018-2A>C)
c.1607-2A>C (n.1607-2A>C)
c.1760-2A>C (n.1760-2A>C)
n.2151-2A>C
n.2475-2A>C
n.2118-2A>C
19g.11123172A>GCA404094723LDLRc.2399-2A>G (n.2399-2A>G)
c.*210-2A>G (n.*210-2A>G)
c.2021-2A>G (n.2021-2A>G)
c.2141-2A>G (n.2141-2A>G)
c.2395-2A>G
c.1637-2A>G (n.1637-2A>G)
c.2018-2A>G (n.2018-2A>G)
c.1607-2A>G (n.1607-2A>G)
c.1760-2A>G (n.1760-2A>G)
n.2151-2A>G
n.2475-2A>G
n.2118-2A>G
 ClinVar dbSNP
19g.11123172A>TCA404094725LDLRc.2399-2A>T (n.2399-2A>T)
c.*210-2A>T (n.*210-2A>T)
c.2021-2A>T (n.2021-2A>T)
c.2141-2A>T (n.2141-2A>T)
c.2395-2A>T
c.1637-2A>T (n.1637-2A>T)
c.2018-2A>T (n.2018-2A>T)
c.1607-2A>T (n.1607-2A>T)
c.1760-2A>T (n.1760-2A>T)
n.2151-2A>T
n.2475-2A>T
n.2118-2A>T
19g.11123174_11123344delCA645509293LDLRc.2399_2569del
c.*210_*380del
c.2021_2191del
c.2141_2311del
c.2395_2565del
c.1637_1807del
c.2018_2188del
c.1607_1777del
c.1760_1930del
n.2151_2321del
n.2475_2645del
n.2118_2288del
 ClinVar dbSNP
19g.11123173G>ACA404094727LDLRc.2399-1G>A (n.2399-1G>A)
c.*210-1G>A (n.*210-1G>A)
c.2021-1G>A (n.2021-1G>A)
c.2141-1G>A (n.2141-1G>A)
c.2395-1G>A
c.1637-1G>A (n.1637-1G>A)
c.2018-1G>A (n.2018-1G>A)
c.1607-1G>A (n.1607-1G>A)
c.1760-1G>A (n.1760-1G>A)
n.2151-1G>A
n.2475-1G>A
n.2118-1G>A
19g.11123173G>CCA404094728LDLRc.2399-1G>C (n.2399-1G>C)
c.*210-1G>C (n.*210-1G>C)
c.2021-1G>C (n.2021-1G>C)
c.2141-1G>C (n.2141-1G>C)
c.2395-1G>C
c.1637-1G>C (n.1637-1G>C)
c.2018-1G>C (n.2018-1G>C)
c.1607-1G>C (n.1607-1G>C)
c.1760-1G>C (n.1760-1G>C)
n.2151-1G>C
n.2475-1G>C
n.2118-1G>C
 ClinVar
19g.11123173G>TCA404094730LDLRc.2399-1G>T (n.2399-1G>T)
c.*210-1G>T (n.*210-1G>T)
c.2021-1G>T (n.2021-1G>T)
c.2141-1G>T (n.2141-1G>T)
c.2395-1G>T
c.1637-1G>T (n.1637-1G>T)
c.2018-1G>T (n.2018-1G>T)
c.1607-1G>T (n.1607-1G>T)
c.1760-1G>T (n.1760-1G>T)
n.2151-1G>T
n.2475-1G>T
n.2118-1G>T
19g.11123174A=CA2322777162LDLRc.2399A= (p.Glu800=)
c.*210A= (n.*210A=)
c.2021A= (p.Glu674=)
c.2141A= (p.Glu714=)
c.2395A=
c.1637A= (p.Glu546=)
c.2018A= (p.Glu673=)
c.1607A= (p.Glu536=)
c.1760A= (p.Glu587=)
n.2151A=
n.2475A=
n.2118A=
19g.11123174A>CCA404094732LDLRc.2399A>C (p.Glu800Ala)
c.*210A>C (n.*210A>C)
c.2021A>C (p.Glu674Ala)
c.2141A>C (p.Glu714Ala)
c.2395A>C
c.1637A>C (p.Glu546Ala)
c.2018A>C (p.Glu673Ala)
c.1607A>C (p.Glu536Ala)
c.1760A>C (p.Glu587Ala)
n.2151A>C
n.2475A>C
n.2118A>C
 ClinVar dbSNP gnomAD v4
19g.11123174A>GCA404094733LDLRc.2399A>G (p.Glu800Gly)
c.*210A>G (n.*210A>G)
c.2021A>G (p.Glu674Gly)
c.2141A>G (p.Glu714Gly)
c.2395A>G
c.1637A>G (p.Glu546Gly)
c.2018A>G (p.Glu673Gly)
c.1607A>G (p.Glu536Gly)
c.1760A>G (p.Glu587Gly)
n.2151A>G
n.2475A>G
n.2118A>G
19g.11123174A>TCA404094735LDLRc.2399A>T (p.Glu800Val)
c.*210A>T (n.*210A>T)
c.2021A>T (p.Glu674Val)
c.2141A>T (p.Glu714Val)
c.2395A>T
c.1637A>T (p.Glu546Val)
c.2018A>T (p.Glu673Val)
c.1607A>T (p.Glu536Val)
c.1760A>T (p.Glu587Val)
n.2151A>T
n.2475A>T
n.2118A>T
19g.11123175G>ACA505486842LDLRc.2400G>A (p.Glu800=)
c.*211G>A (n.*211G>A)
c.2022G>A (p.Glu674=)
c.2142G>A (p.Glu714=)
c.2396G>A
c.1638G>A (p.Glu546=)
c.2019G>A (p.Glu673=)
c.1608G>A (p.Glu536=)
c.1761G>A (p.Glu587=)
n.2152G>A
n.2476G>A
n.2119G>A
19g.11123175G>CCA404094737LDLRc.2400G>C (p.Glu800Asp)
c.*211G>C (n.*211G>C)
c.2022G>C (p.Glu674Asp)
c.2142G>C (p.Glu714Asp)
c.2396G>C
c.1638G>C (p.Glu546Asp)
c.2019G>C (p.Glu673Asp)
c.1608G>C (p.Glu536Asp)
c.1761G>C (p.Glu587Asp)
n.2152G>C
n.2476G>C
n.2119G>C
19g.11123175G>TCA404094739LDLRc.2400G>T (p.Glu800Asp)
c.*211G>T (n.*211G>T)
c.2022G>T (p.Glu674Asp)
c.2142G>T (p.Glu714Asp)
c.2396G>T
c.1638G>T (p.Glu546Asp)
c.2019G>T (p.Glu673Asp)
c.1608G>T (p.Glu536Asp)
c.1761G>T (p.Glu587Asp)
n.2152G>T
n.2476G>T
n.2119G>T
19g.11123176G>ACA404094741LDLRc.2401G>A (p.Ala801Thr)
c.*212G>A (n.*212G>A)
c.2023G>A (p.Ala675Thr)
c.2143G>A (p.Ala715Thr)
c.2397G>A
c.1639G>A (p.Ala547Thr)
c.2020G>A (p.Ala674Thr)
c.1609G>A (p.Ala537Thr)
c.1762G>A (p.Ala588Thr)
n.2153G>A
n.2477G>A
n.2120G>A
 dbSNP gnomAD v2
19g.11123176G>CCA404094742LDLRc.2401G>C (p.Ala801Pro)
c.*212G>C (n.*212G>C)
c.2023G>C (p.Ala675Pro)
c.2143G>C (p.Ala715Pro)
c.2397G>C
c.1639G>C (p.Ala547Pro)
c.2020G>C (p.Ala674Pro)
c.1609G>C (p.Ala537Pro)
c.1762G>C (p.Ala588Pro)
n.2153G>C
n.2477G>C
n.2120G>C
19g.11123176G=CA2322777163LDLRc.2401G= (p.Ala801=)
c.*212G= (n.*212G=)
c.2023G= (p.Ala675=)
c.2143G= (p.Ala715=)
c.2397G=
c.1639G= (p.Ala547=)
c.2020G= (p.Ala674=)
c.1609G= (p.Ala537=)
c.1762G= (p.Ala588=)
n.2153G=
n.2477G=
n.2120G=
19g.11123176G>TCA404094744LDLRc.2401G>T (p.Ala801Ser)
c.*212G>T (n.*212G>T)
c.2023G>T (p.Ala675Ser)
c.2143G>T (p.Ala715Ser)
c.2397G>T
c.1639G>T (p.Ala547Ser)
c.2020G>T (p.Ala674Ser)
c.1609G>T (p.Ala537Ser)
c.1762G>T (p.Ala588Ser)
n.2153G>T
n.2477G>T
n.2120G>T
19g.11123177C>ACA404094746LDLRc.2402C>A (p.Ala801Asp)
c.*213C>A (n.*213C>A)
c.2024C>A (p.Ala675Asp)
c.2144C>A (p.Ala715Asp)
c.2398C>A
c.1640C>A (p.Ala547Asp)
c.2021C>A (p.Ala674Asp)
c.1610C>A (p.Ala537Asp)
c.1763C>A (p.Ala588Asp)
n.2154C>A
n.2478C>A
n.2121C>A
19g.11123177C>GCA404094747LDLRc.2402C>G (p.Ala801Gly)
c.*213C>G (n.*213C>G)
c.2024C>G (p.Ala675Gly)
c.2144C>G (p.Ala715Gly)
c.2398C>G
c.1640C>G (p.Ala547Gly)
c.2021C>G (p.Ala674Gly)
c.1610C>G (p.Ala537Gly)
c.1763C>G (p.Ala588Gly)
n.2154C>G
n.2478C>G
n.2121C>G
19g.11123177C>TCA404094749LDLRc.2402C>T (p.Ala801Val)
c.*213C>T (n.*213C>T)
c.2024C>T (p.Ala675Val)
c.2144C>T (p.Ala715Val)
c.2398C>T
c.1640C>T (p.Ala547Val)
c.2021C>T (p.Ala674Val)
c.1610C>T (p.Ala537Val)
c.1763C>T (p.Ala588Val)
n.2154C>T
n.2478C>T
n.2121C>T
19g.11123178T>ACA505486845LDLRc.2403T>A (p.Ala801=)
c.*214T>A (n.*214T>A)
c.2025T>A (p.Ala675=)
c.2145T>A (p.Ala715=)
c.2399T>A
c.1641T>A (p.Ala547=)
c.2022T>A (p.Ala674=)
c.1611T>A (p.Ala537=)
c.1764T>A (p.Ala588=)
n.2155T>A
n.2479T>A
n.2122T>A
19g.11123178T>CCA505486846LDLRc.2403T>C (p.Ala801=)
c.*214T>C (n.*214T>C)
c.2025T>C (p.Ala675=)
c.2145T>C (p.Ala715=)
c.2399T>C
c.1641T>C (p.Ala547=)
c.2022T>C (p.Ala674=)
c.1611T>C (p.Ala537=)
c.1764T>C (p.Ala588=)
n.2155T>C
n.2479T>C
n.2122T>C
19g.11123178T>GCA505486844LDLRc.2403T>G (p.Ala801=)
c.*214T>G (n.*214T>G)
c.2025T>G (p.Ala675=)
c.2145T>G (p.Ala715=)
c.2399T>G
c.1641T>G (p.Ala547=)
c.2022T>G (p.Ala674=)
c.1611T>G (p.Ala537=)
c.1764T>G (p.Ala588=)
n.2155T>G
n.2479T>G
n.2122T>G
19g.11123179G>ACA10585792LDLRc.2404G>A (p.Glu802Lys)
c.*215G>A (n.*215G>A)
c.2026G>A (p.Glu676Lys)
c.2146G>A (p.Glu716Lys)
c.2400G>A
c.1642G>A (p.Glu548Lys)
c.2023G>A (p.Glu675Lys)
c.1612G>A (p.Glu538Lys)
c.1765G>A (p.Glu589Lys)
n.2156G>A
n.2480G>A
n.2123G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123179G>CCA404094752LDLRc.2404G>C (p.Glu802Gln)
c.*215G>C (n.*215G>C)
c.2026G>C (p.Glu676Gln)
c.2146G>C (p.Glu716Gln)
c.2400G>C
c.1642G>C (p.Glu548Gln)
c.2023G>C (p.Glu675Gln)
c.1612G>C (p.Glu538Gln)
c.1765G>C (p.Glu589Gln)
n.2156G>C
n.2480G>C
n.2123G>C
19g.11123179G=CA2322777164LDLRc.2404G= (p.Glu802=)
c.*215G= (n.*215G=)
c.2026G= (p.Glu676=)
c.2146G= (p.Glu716=)
c.2400G=
c.1642G= (p.Glu548=)
c.2023G= (p.Glu675=)
c.1612G= (p.Glu538=)
c.1765G= (p.Glu589=)
n.2156G=
n.2480G=
n.2123G=
19g.11123179G>TCA404094753LDLRc.2404G>T (p.Glu802Ter)
c.*215G>T (n.*215G>T)
c.2026G>T (p.Glu676Ter)
c.2146G>T (p.Glu716Ter)
c.2400G>T
c.1642G>T (p.Glu548Ter)
c.2023G>T (p.Glu675Ter)
c.1612G>T (p.Glu538Ter)
c.1765G>T (p.Glu589Ter)
n.2156G>T
n.2480G>T
n.2123G>T
 ClinVar dbSNP
19g.11123180A>CCA404094756LDLRc.2405A>C (p.Glu802Ala)
c.*216A>C (n.*216A>C)
c.2027A>C (p.Glu676Ala)
c.2147A>C (p.Glu716Ala)
c.2401A>C
c.1643A>C (p.Glu548Ala)
c.2024A>C (p.Glu675Ala)
c.1613A>C (p.Glu538Ala)
c.1766A>C (p.Glu589Ala)
n.2157A>C
n.2481A>C
n.2124A>C
 ClinVar dbSNP gnomAD v4
19g.11123180A>GCA404094758LDLRc.2405A>G (p.Glu802Gly)
c.*216A>G (n.*216A>G)
c.2027A>G (p.Glu676Gly)
c.2147A>G (p.Glu716Gly)
c.2401A>G
c.1643A>G (p.Glu548Gly)
c.2024A>G (p.Glu675Gly)
c.1613A>G (p.Glu538Gly)
c.1766A>G (p.Glu589Gly)
n.2157A>G
n.2481A>G
n.2124A>G
 gnomAD v4
19g.11123180A>TCA404094760LDLRc.2405A>T (p.Glu802Val)
c.*216A>T (n.*216A>T)
c.2027A>T (p.Glu676Val)
c.2147A>T (p.Glu716Val)
c.2401A>T
c.1643A>T (p.Glu548Val)
c.2024A>T (p.Glu675Val)
c.1613A>T (p.Glu538Val)
c.1766A>T (p.Glu589Val)
n.2157A>T
n.2481A>T
n.2124A>T
19g.11123181G>ACA505486847LDLRc.2406G>A (p.Glu802=)
c.*217G>A (n.*217G>A)
c.2028G>A (p.Glu676=)
c.2148G>A (p.Glu716=)
c.2402G>A
c.1644G>A (p.Glu548=)
c.2025G>A (p.Glu675=)
c.1614G>A (p.Glu538=)
c.1767G>A (p.Glu589=)
n.2158G>A
n.2482G>A
n.2125G>A
 ClinVar dbSNP gnomAD v4
19g.11123181G>CCA404094762LDLRc.2406G>C (p.Glu802Asp)
c.*217G>C (n.*217G>C)
c.2028G>C (p.Glu676Asp)
c.2148G>C (p.Glu716Asp)
c.2402G>C
c.1644G>C (p.Glu548Asp)
c.2025G>C (p.Glu675Asp)
c.1614G>C (p.Glu538Asp)
c.1767G>C (p.Glu589Asp)
n.2158G>C
n.2482G>C
n.2125G>C
19g.11123181G=CA2322777165LDLRc.2406G= (p.Glu802=)
c.*217G= (n.*217G=)
c.2028G= (p.Glu676=)
c.2148G= (p.Glu716=)
c.2402G=
c.1644G= (p.Glu548=)
c.2025G= (p.Glu675=)
c.1614G= (p.Glu538=)
c.1767G= (p.Glu589=)
n.2158G=
n.2482G=
n.2125G=
19g.11123181G>TCA404094764LDLRc.2406G>T (p.Glu802Asp)
c.*217G>T (n.*217G>T)
c.2028G>T (p.Glu676Asp)
c.2148G>T (p.Glu716Asp)
c.2402G>T
c.1644G>T (p.Glu548Asp)
c.2025G>T (p.Glu675Asp)
c.1614G>T (p.Glu538Asp)
c.1767G>T (p.Glu589Asp)
n.2158G>T
n.2482G>T
n.2125G>T
19g.11123182G>ACA10576330LDLRc.2407G>A (p.Ala803Thr)
c.*218G>A (n.*218G>A)
c.2029G>A (p.Ala677Thr)
c.2149G>A (p.Ala717Thr)
c.2403G>A
c.1645G>A (p.Ala549Thr)
c.2026G>A (p.Ala676Thr)
c.1615G>A (p.Ala539Thr)
c.1768G>A (p.Ala590Thr)
n.2159G>A
n.2483G>A
n.2126G>A
 ClinVar dbSNP gnomAD v4
19g.11123182G>CCA404094767LDLRc.2407G>C (p.Ala803Pro)
c.*218G>C (n.*218G>C)
c.2029G>C (p.Ala677Pro)
c.2149G>C (p.Ala717Pro)
c.2403G>C
c.1645G>C (p.Ala549Pro)
c.2026G>C (p.Ala676Pro)
c.1615G>C (p.Ala539Pro)
c.1768G>C (p.Ala590Pro)
n.2159G>C
n.2483G>C
n.2126G>C
19g.11123182G=CA2322777166LDLRc.2407G= (p.Ala803=)
c.*218G= (n.*218G=)
c.2029G= (p.Ala677=)
c.2149G= (p.Ala717=)
c.2403G=
c.1645G= (p.Ala549=)
c.2026G= (p.Ala676=)
c.1615G= (p.Ala539=)
c.1768G= (p.Ala590=)
n.2159G=
n.2483G=
n.2126G=
19g.11123182G>TCA404094766LDLRc.2407G>T (p.Ala803Ser)
c.*218G>T (n.*218G>T)
c.2029G>T (p.Ala677Ser)
c.2149G>T (p.Ala717Ser)
c.2403G>T
c.1645G>T (p.Ala549Ser)
c.2026G>T (p.Ala676Ser)
c.1615G>T (p.Ala539Ser)
c.1768G>T (p.Ala590Ser)
n.2159G>T
n.2483G>T
n.2126G>T
19g.11123183C>ACA404094769LDLRc.2408C>A (p.Ala803Asp)
c.*219C>A (n.*219C>A)
c.2030C>A (p.Ala677Asp)
c.2150C>A (p.Ala717Asp)
c.2404C>A
c.1646C>A (p.Ala549Asp)
c.2027C>A (p.Ala676Asp)
c.1616C>A (p.Ala539Asp)
c.1769C>A (p.Ala590Asp)
n.2160C>A
n.2484C>A
n.2127C>A
19g.11123183C=CA2322777167LDLRc.2408C= (p.Ala803=)
c.*219C= (n.*219C=)
c.2030C= (p.Ala677=)
c.2150C= (p.Ala717=)
c.2404C=
c.1646C= (p.Ala549=)
c.2027C= (p.Ala676=)
c.1616C= (p.Ala539=)
c.1769C= (p.Ala590=)
n.2160C=
n.2484C=
n.2127C=
19g.11123183C>GCA10585793LDLRc.2408C>G (p.Ala803Gly)
c.*219C>G (n.*219C>G)
c.2030C>G (p.Ala677Gly)
c.2150C>G (p.Ala717Gly)
c.2404C>G
c.1646C>G (p.Ala549Gly)
c.2027C>G (p.Ala676Gly)
c.1616C>G (p.Ala539Gly)
c.1769C>G (p.Ala590Gly)
n.2160C>G
n.2484C>G
n.2127C>G
 ClinVar dbSNP
19g.11123183C>TCA404094772LDLRc.2408C>T (p.Ala803Val)
c.*219C>T (n.*219C>T)
c.2030C>T (p.Ala677Val)
c.2150C>T (p.Ala717Val)
c.2404C>T
c.1646C>T (p.Ala549Val)
c.2027C>T (p.Ala676Val)
c.1616C>T (p.Ala539Val)
c.1769C>T (p.Ala590Val)
n.2160C>T
n.2484C>T
n.2127C>T
19g.11123184T>ACA505486851LDLRc.2409T>A (p.Ala803=)
c.*220T>A (n.*220T>A)
c.2031T>A (p.Ala677=)
c.2151T>A (p.Ala717=)
c.2405T>A
c.1647T>A (p.Ala549=)
c.2028T>A (p.Ala676=)
c.1617T>A (p.Ala539=)
c.1770T>A (p.Ala590=)
n.2161T>A
n.2485T>A
n.2128T>A
19g.11123184T>CCA505486849LDLRc.2409T>C (p.Ala803=)
c.*220T>C (n.*220T>C)
c.2031T>C (p.Ala677=)
c.2151T>C (p.Ala717=)
c.2405T>C
c.1647T>C (p.Ala549=)
c.2028T>C (p.Ala676=)
c.1617T>C (p.Ala539=)
c.1770T>C (p.Ala590=)
n.2161T>C
n.2485T>C
n.2128T>C
19g.11123184T>GCA505486850LDLRc.2409T>G (p.Ala803=)
c.*220T>G (n.*220T>G)
c.2031T>G (p.Ala677=)
c.2151T>G (p.Ala717=)
c.2405T>G
c.1647T>G (p.Ala549=)
c.2028T>G (p.Ala676=)
c.1617T>G (p.Ala539=)
c.1770T>G (p.Ala590=)
n.2161T>G
n.2485T>G
n.2128T>G
19g.11123185G>ACA404094774LDLRc.2410G>A (p.Ala804Thr)
c.*221G>A (n.*221G>A)
c.2032G>A (p.Ala678Thr)
c.2152G>A (p.Ala718Thr)
c.2406G>A
c.1648G>A (p.Ala550Thr)
c.2029G>A (p.Ala677Thr)
c.1618G>A (p.Ala540Thr)
c.1771G>A (p.Ala591Thr)
n.2162G>A
n.2486G>A
n.2129G>A
19g.11123185G>CCA404094775LDLRc.2410G>C (p.Ala804Pro)
c.*221G>C (n.*221G>C)
c.2032G>C (p.Ala678Pro)
c.2152G>C (p.Ala718Pro)
c.2406G>C
c.1648G>C (p.Ala550Pro)
c.2029G>C (p.Ala677Pro)
c.1618G>C (p.Ala540Pro)
c.1771G>C (p.Ala591Pro)
n.2162G>C
n.2486G>C
n.2129G>C
19g.11123185G>TCA404094777LDLRc.2410G>T (p.Ala804Ser)
c.*221G>T (n.*221G>T)
c.2032G>T (p.Ala678Ser)
c.2152G>T (p.Ala718Ser)
c.2406G>T
c.1648G>T (p.Ala550Ser)
c.2029G>T (p.Ala677Ser)
c.1618G>T (p.Ala540Ser)
c.1771G>T (p.Ala591Ser)
n.2162G>T
n.2486G>T
n.2129G>T
 gnomAD v4 COSMIC
19g.11123186C>ACA404094779LDLRc.2411C>A (p.Ala804Glu)
c.*222C>A (n.*222C>A)
c.2033C>A (p.Ala678Glu)
c.2153C>A (p.Ala718Glu)
c.2407C>A
c.1649C>A (p.Ala550Glu)
c.2030C>A (p.Ala677Glu)
c.1619C>A (p.Ala540Glu)
c.1772C>A (p.Ala591Glu)
n.2163C>A
n.2487C>A
n.2130C>A
19g.11123186C=CA2322777168LDLRc.2411C= (p.Ala804=)
c.*222C= (n.*222C=)
c.2033C= (p.Ala678=)
c.2153C= (p.Ala718=)
c.2407C=
c.1649C= (p.Ala550=)
c.2030C= (p.Ala677=)
c.1619C= (p.Ala540=)
c.1772C= (p.Ala591=)
n.2163C=
n.2487C=
n.2130C=
19g.11123186C>GCA404094781LDLRc.2411C>G (p.Ala804Gly)
c.*222C>G (n.*222C>G)
c.2033C>G (p.Ala678Gly)
c.2153C>G (p.Ala718Gly)
c.2407C>G
c.1649C>G (p.Ala550Gly)
c.2030C>G (p.Ala677Gly)
c.1619C>G (p.Ala540Gly)
c.1772C>G (p.Ala591Gly)
n.2163C>G
n.2487C>G
n.2130C>G
19g.11123186C>TCA039040LDLRc.2411C>T (p.Ala804Val)
c.*222C>T (n.*222C>T)
c.2033C>T (p.Ala678Val)
c.2153C>T (p.Ala718Val)
c.2407C>T
c.1649C>T (p.Ala550Val)
c.2030C>T (p.Ala677Val)
c.1619C>T (p.Ala540Val)
c.1772C>T (p.Ala591Val)
n.2163C>T
n.2487C>T
n.2130C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123187A=CA2322777169LDLRc.2412A= (p.Ala804=)
c.*223A= (n.*223A=)
c.2034A= (p.Ala678=)
c.2154A= (p.Ala718=)
c.2408A=
c.1650A= (p.Ala550=)
c.2031A= (p.Ala677=)
c.1620A= (p.Ala540=)
c.1773A= (p.Ala591=)
n.2164A=
n.2488A=
n.2131A=
19g.11123187A>CCA039049LDLRc.2412A>C (p.Ala804=)
c.*223A>C (n.*223A>C)
c.2034A>C (p.Ala678=)
c.2154A>C (p.Ala718=)
c.2408A>C
c.1650A>C (p.Ala550=)
c.2031A>C (p.Ala677=)
c.1620A>C (p.Ala540=)
c.1773A>C (p.Ala591=)
n.2164A>C
n.2488A>C
n.2131A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123187A>GCA505486853LDLRc.2412A>G (p.Ala804=)
c.*223A>G (n.*223A>G)
c.2034A>G (p.Ala678=)
c.2154A>G (p.Ala718=)
c.2408A>G
c.1650A>G (p.Ala550=)
c.2031A>G (p.Ala677=)
c.1620A>G (p.Ala540=)
c.1773A>G (p.Ala591=)
n.2164A>G
n.2488A>G
n.2131A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123187A>TCA505486854LDLRc.2412A>T (p.Ala804=)
c.*223A>T (n.*223A>T)
c.2034A>T (p.Ala678=)
c.2154A>T (p.Ala718=)
c.2408A>T
c.1650A>T (p.Ala550=)
c.2031A>T (p.Ala677=)
c.1620A>T (p.Ala540=)
c.1773A>T (p.Ala591=)
n.2164A>T
n.2488A>T
n.2131A>T
19g.11123188G>ACA404094788LDLRc.2413G>A (p.Val805Met)
c.*224G>A (n.*224G>A)
c.2035G>A (p.Val679Met)
c.2155G>A (p.Val719Met)
c.2409G>A
c.1651G>A (p.Val551Met)
c.2032G>A (p.Val678Met)
c.1621G>A (p.Val541Met)
c.1774G>A (p.Val592Met)
n.2165G>A
n.2489G>A
n.2132G>A
19g.11123188G>CCA10585794LDLRc.2413G>C (p.Val805Leu)
c.*224G>C (n.*224G>C)
c.2035G>C (p.Val679Leu)
c.2155G>C (p.Val719Leu)
c.2409G>C
c.1651G>C (p.Val551Leu)
c.2032G>C (p.Val678Leu)
c.1621G>C (p.Val541Leu)
c.1774G>C (p.Val592Leu)
n.2165G>C
n.2489G>C
n.2132G>C
 ClinVar dbSNP
19g.11123188G=CA2322777170LDLRc.2413G= (p.Val805=)
c.*224G= (n.*224G=)
c.2035G= (p.Val679=)
c.2155G= (p.Val719=)
c.2409G=
c.1651G= (p.Val551=)
c.2032G= (p.Val678=)
c.1621G= (p.Val541=)
c.1774G= (p.Val592=)
n.2165G=
n.2489G=
n.2132G=
19g.11123188G>TCA404094785LDLRc.2413G>T (p.Val805Leu)
c.*224G>T (n.*224G>T)
c.2035G>T (p.Val679Leu)
c.2155G>T (p.Val719Leu)
c.2409G>T
c.1651G>T (p.Val551Leu)
c.2032G>T (p.Val678Leu)
c.1621G>T (p.Val541Leu)
c.1774G>T (p.Val592Leu)
n.2165G>T
n.2489G>T
n.2132G>T
19g.11123189T>ACA404094790LDLRc.2414T>A (p.Val805Glu)
c.*225T>A (n.*225T>A)
c.2036T>A (p.Val679Glu)
c.2156T>A (p.Val719Glu)
c.2410T>A
c.1652T>A (p.Val551Glu)
c.2033T>A (p.Val678Glu)
c.1622T>A (p.Val541Glu)
c.1775T>A (p.Val592Glu)
n.2166T>A
n.2490T>A
n.2133T>A
19g.11123189T>CCA305305058LDLRc.2414T>C (p.Val805Ala)
c.*225T>C (n.*225T>C)
c.2036T>C (p.Val679Ala)
c.2156T>C (p.Val719Ala)
c.2410T>C
c.1652T>C (p.Val551Ala)
c.2033T>C (p.Val678Ala)
c.1622T>C (p.Val541Ala)
c.1775T>C (p.Val592Ala)
n.2166T>C
n.2490T>C
n.2133T>C
 dbSNP
19g.11123189T>GCA404094792LDLRc.2414T>G (p.Val805Gly)
c.*225T>G (n.*225T>G)
c.2036T>G (p.Val679Gly)
c.2156T>G (p.Val719Gly)
c.2410T>G
c.1652T>G (p.Val551Gly)
c.2033T>G (p.Val678Gly)
c.1622T>G (p.Val541Gly)
c.1775T>G (p.Val592Gly)
n.2166T>G
n.2490T>G
n.2133T>G
19g.11123189T=CA2322777171LDLRc.2414T= (p.Val805=)
c.*225T= (n.*225T=)
c.2036T= (p.Val679=)
c.2156T= (p.Val719=)
c.2410T=
c.1652T= (p.Val551=)
c.2033T= (p.Val678=)
c.1622T= (p.Val541=)
c.1775T= (p.Val592=)
n.2166T=
n.2490T=
n.2133T=
19g.11123190G>ACA505486855LDLRc.2415G>A (p.Val805=)
c.*226G>A (n.*226G>A)
c.2037G>A (p.Val679=)
c.2157G>A (p.Val719=)
c.2411G>A
c.1653G>A (p.Val551=)
c.2034G>A (p.Val678=)
c.1623G>A (p.Val541=)
c.1776G>A (p.Val592=)
n.2167G>A
n.2491G>A
n.2134G>A
19g.11123190G>CCA505486856LDLRc.2415G>C (p.Val805=)
c.*226G>C (n.*226G>C)
c.2037G>C (p.Val679=)
c.2157G>C (p.Val719=)
c.2411G>C
c.1653G>C (p.Val551=)
c.2034G>C (p.Val678=)
c.1623G>C (p.Val541=)
c.1776G>C (p.Val592=)
n.2167G>C
n.2491G>C
n.2134G>C
19g.11123190G>TCA505486857LDLRc.2415G>T (p.Val805=)
c.*226G>T (n.*226G>T)
c.2037G>T (p.Val679=)
c.2157G>T (p.Val719=)
c.2411G>T
c.1653G>T (p.Val551=)
c.2034G>T (p.Val678=)
c.1623G>T (p.Val541=)
c.1776G>T (p.Val592=)
n.2167G>T
n.2491G>T
n.2134G>T
19g.11123191G>ACA404094795LDLRc.2416G>A (p.Ala806Thr)
c.*227G>A (n.*227G>A)
c.2038G>A (p.Ala680Thr)
c.2158G>A (p.Ala720Thr)
c.2412G>A
c.1654G>A (p.Ala552Thr)
c.2035G>A (p.Ala679Thr)
c.1624G>A (p.Ala542Thr)
c.1777G>A (p.Ala593Thr)
n.2168G>A
n.2492G>A
n.2135G>A
 gnomAD v4
19g.11123191G>CCA404094796LDLRc.2416G>C (p.Ala806Pro)
c.*227G>C (n.*227G>C)
c.2038G>C (p.Ala680Pro)
c.2158G>C (p.Ala720Pro)
c.2412G>C
c.1654G>C (p.Ala552Pro)
c.2035G>C (p.Ala679Pro)
c.1624G>C (p.Ala542Pro)
c.1777G>C (p.Ala593Pro)
n.2168G>C
n.2492G>C
n.2135G>C
19g.11123191G>TCA404094798LDLRc.2416G>T (p.Ala806Ser)
c.*227G>T (n.*227G>T)
c.2038G>T (p.Ala680Ser)
c.2158G>T (p.Ala720Ser)
c.2412G>T
c.1654G>T (p.Ala552Ser)
c.2035G>T (p.Ala679Ser)
c.1624G>T (p.Ala542Ser)
c.1777G>T (p.Ala593Ser)
n.2168G>T
n.2492G>T
n.2135G>T
 gnomAD v4
19g.11123192C>ACA404094800LDLRc.2417C>A (p.Ala806Asp)
c.*228C>A (n.*228C>A)
c.2039C>A (p.Ala680Asp)
c.2159C>A (p.Ala720Asp)
c.2413C>A
c.1655C>A (p.Ala552Asp)
c.2036C>A (p.Ala679Asp)
c.1625C>A (p.Ala542Asp)
c.1778C>A (p.Ala593Asp)
n.2169C>A
n.2493C>A
n.2136C>A
19g.11123192C>GCA404094802LDLRc.2417C>G (p.Ala806Gly)
c.*228C>G (n.*228C>G)
c.2039C>G (p.Ala680Gly)
c.2159C>G (p.Ala720Gly)
c.2413C>G
c.1655C>G (p.Ala552Gly)
c.2036C>G (p.Ala679Gly)
c.1625C>G (p.Ala542Gly)
c.1778C>G (p.Ala593Gly)
n.2169C>G
n.2493C>G
n.2136C>G
19g.11123192C>TCA404094804LDLRc.2417C>T (p.Ala806Val)
c.*228C>T (n.*228C>T)
c.2039C>T (p.Ala680Val)
c.2159C>T (p.Ala720Val)
c.2413C>T
c.1655C>T (p.Ala552Val)
c.2036C>T (p.Ala679Val)
c.1625C>T (p.Ala542Val)
c.1778C>T (p.Ala593Val)
n.2169C>T
n.2493C>T
n.2136C>T
19g.11123193delCA2739291176LDLRc.2418del (p.Thr807ProfsTer9)
c.*229del (n.*229del)
c.2040del (p.Thr681ProfsTer9)
c.2160del (p.Thr721ProfsTer9)
c.2414del
c.1656del (p.Thr553ProfsTer9)
c.2037del (p.Thr680ProfsTer9)
c.1626del (p.Thr543ProfsTer9)
c.1779del (p.Thr594ProfsTer9)
n.2170del
n.2494del
n.2137del
19g.11123193C>ACA505486859LDLRc.2418C>A (p.Ala806=)
c.*229C>A (n.*229C>A)
c.2040C>A (p.Ala680=)
c.2160C>A (p.Ala720=)
c.2414C>A
c.1656C>A (p.Ala552=)
c.2037C>A (p.Ala679=)
c.1626C>A (p.Ala542=)
c.1779C>A (p.Ala593=)
n.2170C>A
n.2494C>A
n.2137C>A
19g.11123193C>GCA505486860LDLRc.2418C>G (p.Ala806=)
c.*229C>G (n.*229C>G)
c.2040C>G (p.Ala680=)
c.2160C>G (p.Ala720=)
c.2414C>G
c.1656C>G (p.Ala552=)
c.2037C>G (p.Ala679=)
c.1626C>G (p.Ala542=)
c.1779C>G (p.Ala593=)
n.2170C>G
n.2494C>G
n.2137C>G
19g.11123193C>TCA505486861LDLRc.2418C>T (p.Ala806=)
c.*229C>T (n.*229C>T)
c.2040C>T (p.Ala680=)
c.2160C>T (p.Ala720=)
c.2414C>T
c.1656C>T (p.Ala552=)
c.2037C>T (p.Ala679=)
c.1626C>T (p.Ala542=)
c.1779C>T (p.Ala593=)
n.2170C>T
n.2494C>T
n.2137C>T
19g.11123194A=CA2322777172LDLRc.2419A= (p.Thr807=)
c.*230A= (n.*230A=)
c.2041A= (p.Thr681=)
c.2161A= (p.Thr721=)
c.2415A=
c.1657A= (p.Thr553=)
c.2038A= (p.Thr680=)
c.1627A= (p.Thr543=)
c.1780A= (p.Thr594=)
n.2171A=
n.2495A=
n.2138A=
19g.11123194A>CCA404094810LDLRc.2419A>C (p.Thr807Pro)
c.*230A>C (n.*230A>C)
c.2041A>C (p.Thr681Pro)
c.2161A>C (p.Thr721Pro)
c.2415A>C
c.1657A>C (p.Thr553Pro)
c.2038A>C (p.Thr680Pro)
c.1627A>C (p.Thr543Pro)
c.1780A>C (p.Thr594Pro)
n.2171A>C
n.2495A>C
n.2138A>C
19g.11123194A>GCA404094808LDLRc.2419A>G (p.Thr807Ala)
c.*230A>G (n.*230A>G)
c.2041A>G (p.Thr681Ala)
c.2161A>G (p.Thr721Ala)
c.2415A>G
c.1657A>G (p.Thr553Ala)
c.2038A>G (p.Thr680Ala)
c.1627A>G (p.Thr543Ala)
c.1780A>G (p.Thr594Ala)
n.2171A>G
n.2495A>G
n.2138A>G
 ClinVar dbSNP
19g.11123194A>TCA404094806LDLRc.2419A>T (p.Thr807Ser)
c.*230A>T (n.*230A>T)
c.2041A>T (p.Thr681Ser)
c.2161A>T (p.Thr721Ser)
c.2415A>T
c.1657A>T (p.Thr553Ser)
c.2038A>T (p.Thr680Ser)
c.1627A>T (p.Thr543Ser)
c.1780A>T (p.Thr594Ser)
n.2171A>T
n.2495A>T
n.2138A>T
19g.11123195C>ACA404094811LDLRc.2420C>A (p.Thr807Asn)
c.*231C>A (n.*231C>A)
c.2042C>A (p.Thr681Asn)
c.2162C>A (p.Thr721Asn)
c.2416C>A
c.1658C>A (p.Thr553Asn)
c.2039C>A (p.Thr680Asn)
c.1628C>A (p.Thr543Asn)
c.1781C>A (p.Thr594Asn)
n.2172C>A
n.2496C>A
n.2139C>A
19g.11123195C>GCA404094813LDLRc.2420C>G (p.Thr807Ser)
c.*231C>G (n.*231C>G)
c.2042C>G (p.Thr681Ser)
c.2162C>G (p.Thr721Ser)
c.2416C>G
c.1658C>G (p.Thr553Ser)
c.2039C>G (p.Thr680Ser)
c.1628C>G (p.Thr543Ser)
c.1781C>G (p.Thr594Ser)
n.2172C>G
n.2496C>G
n.2139C>G
19g.11123195C>TCA404094815LDLRc.2420C>T (p.Thr807Ile)
c.*231C>T (n.*231C>T)
c.2042C>T (p.Thr681Ile)
c.2162C>T (p.Thr721Ile)
c.2416C>T
c.1658C>T (p.Thr553Ile)
c.2039C>T (p.Thr680Ile)
c.1628C>T (p.Thr543Ile)
c.1781C>T (p.Thr594Ile)
n.2172C>T
n.2496C>T
n.2139C>T
 gnomAD v4
19g.11123197delCA2695228316LDLRc.2422del (p.Gln808ArgfsTer8)
c.*233del (n.*233del)
c.2044del (p.Gln682ArgfsTer8)
c.2164del (p.Gln722ArgfsTer8)
c.2418del
c.1660del (p.Gln554ArgfsTer8)
c.2041del (p.Gln681ArgfsTer8)
c.1630del (p.Gln544ArgfsTer8)
c.1783del (p.Gln595ArgfsTer8)
n.2174del
n.2498del
n.2141del
19g.11123196C>ACA505486865LDLRc.2421C>A (p.Thr807=)
c.*232C>A (n.*232C>A)
c.2043C>A (p.Thr681=)
c.2163C>A (p.Thr721=)
c.2417C>A
c.1659C>A (p.Thr553=)
c.2040C>A (p.Thr680=)
c.1629C>A (p.Thr543=)
c.1782C>A (p.Thr594=)
n.2173C>A
n.2497C>A
n.2140C>A
19g.11123196C>GCA505486866LDLRc.2421C>G (p.Thr807=)
c.*232C>G (n.*232C>G)
c.2043C>G (p.Thr681=)
c.2163C>G (p.Thr721=)
c.2417C>G
c.1659C>G (p.Thr553=)
c.2040C>G (p.Thr680=)
c.1629C>G (p.Thr543=)
c.1782C>G (p.Thr594=)
n.2173C>G
n.2497C>G
n.2140C>G
19g.11123196C>TCA505486868LDLRc.2421C>T (p.Thr807=)
c.*232C>T (n.*232C>T)
c.2043C>T (p.Thr681=)
c.2163C>T (p.Thr721=)
c.2417C>T
c.1659C>T (p.Thr553=)
c.2040C>T (p.Thr680=)
c.1629C>T (p.Thr543=)
c.1782C>T (p.Thr594=)
n.2173C>T
n.2497C>T
n.2140C>T
19g.11123197C>ACA404094817LDLRc.2422C>A (p.Gln808Lys)
c.*233C>A (n.*233C>A)
c.2044C>A (p.Gln682Lys)
c.2164C>A (p.Gln722Lys)
c.2418C>A
c.1660C>A (p.Gln554Lys)
c.2041C>A (p.Gln681Lys)
c.1630C>A (p.Gln544Lys)
c.1783C>A (p.Gln595Lys)
n.2174C>A
n.2498C>A
n.2141C>A
19g.11123197C=CA2322777173LDLRc.2422C= (p.Gln808=)
c.*233C= (n.*233C=)
c.2044C= (p.Gln682=)
c.2164C= (p.Gln722=)
c.2418C=
c.1660C= (p.Gln554=)
c.2041C= (p.Gln681=)
c.1630C= (p.Gln544=)
c.1783C= (p.Gln595=)
n.2174C=
n.2498C=
n.2141C=
19g.11123197C>GCA404094819LDLRc.2422C>G (p.Gln808Glu)
c.*233C>G (n.*233C>G)
c.2044C>G (p.Gln682Glu)
c.2164C>G (p.Gln722Glu)
c.2418C>G
c.1660C>G (p.Gln554Glu)
c.2041C>G (p.Gln681Glu)
c.1630C>G (p.Gln544Glu)
c.1783C>G (p.Gln595Glu)
n.2174C>G
n.2498C>G
n.2141C>G
19g.11123197C>TCA10585795LDLRc.2422C>T (p.Gln808Ter)
c.*233C>T (n.*233C>T)
c.2044C>T (p.Gln682Ter)
c.2164C>T (p.Gln722Ter)
c.2418C>T
c.1660C>T (p.Gln554Ter)
c.2041C>T (p.Gln681Ter)
c.1630C>T (p.Gln544Ter)
c.1783C>T (p.Gln595Ter)
n.2174C>T
n.2498C>T
n.2141C>T
 ClinVar dbSNP
19g.11123198A=CA2322777175LDLRc.2423A= (p.Gln808=)
c.*234A= (n.*234A=)
c.2045A= (p.Gln682=)
c.2165A= (p.Gln722=)
c.2419A=
c.1661A= (p.Gln554=)
c.2042A= (p.Gln681=)
c.1631A= (p.Gln544=)
c.1784A= (p.Gln595=)
n.2175A=
n.2499A=
n.2142A=
19g.11123198A>CCA404094822LDLRc.2423A>C (p.Gln808Pro)
c.*234A>C (n.*234A>C)
c.2045A>C (p.Gln682Pro)
c.2165A>C (p.Gln722Pro)
c.2419A>C
c.1661A>C (p.Gln554Pro)
c.2042A>C (p.Gln681Pro)
c.1631A>C (p.Gln544Pro)
c.1784A>C (p.Gln595Pro)
n.2175A>C
n.2499A>C
n.2142A>C
 dbSNP
19g.11123198A>GCA404094825LDLRc.2423A>G (p.Gln808Arg)
c.*234A>G (n.*234A>G)
c.2045A>G (p.Gln682Arg)
c.2165A>G (p.Gln722Arg)
c.2419A>G
c.1661A>G (p.Gln554Arg)
c.2042A>G (p.Gln681Arg)
c.1631A>G (p.Gln544Arg)
c.1784A>G (p.Gln595Arg)
n.2175A>G
n.2499A>G
n.2142A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11123198A>TCA404094823LDLRc.2423A>T (p.Gln808Leu)
c.*234A>T (n.*234A>T)
c.2045A>T (p.Gln682Leu)
c.2165A>T (p.Gln722Leu)
c.2419A>T
c.1661A>T (p.Gln554Leu)
c.2042A>T (p.Gln681Leu)
c.1631A>T (p.Gln544Leu)
c.1784A>T (p.Gln595Leu)
n.2175A>T
n.2499A>T
n.2142A>T
19g.11123198_11123199delinsAGCA2322777174LDLRc.2423_2424delinsAG (p.Gln808=)
c.*234_*235delinsAG (n.*234_*235delinsAG)
c.2045_2046delinsAG (p.Gln682=)
c.2165_2166delinsAG (p.Gln722=)
c.2419_2420delinsAG
c.1661_1662delinsAG (p.Gln554=)
c.2042_2043delinsAG (p.Gln681=)
c.1631_1632delinsAG (p.Gln544=)
c.1784_1785delinsAG (p.Gln595=)
n.2175_2176delinsAG
n.2499_2500delinsAG
n.2142_2143delinsAG
19g.11123199G>ACA505486872LDLRc.2424G>A (p.Gln808=)
c.*235G>A (n.*235G>A)
c.2046G>A (p.Gln682=)
c.2166G>A (p.Gln722=)
c.2420G>A
c.1662G>A (p.Gln554=)
c.2043G>A (p.Gln681=)
c.1632G>A (p.Gln544=)
c.1785G>A (p.Gln595=)
n.2176G>A
n.2500G>A
n.2143G>A
19g.11123199G>CCA404094828LDLRc.2424G>C (p.Gln808His)
c.*235G>C (n.*235G>C)
c.2046G>C (p.Gln682His)
c.2166G>C (p.Gln722His)
c.2420G>C
c.1662G>C (p.Gln554His)
c.2043G>C (p.Gln681His)
c.1632G>C (p.Gln544His)
c.1785G>C (p.Gln595His)
n.2176G>C
n.2500G>C
n.2143G>C
19g.11123199G>TCA404094829LDLRc.2424G>T (p.Gln808His)
c.*235G>T (n.*235G>T)
c.2046G>T (p.Gln682His)
c.2166G>T (p.Gln722His)
c.2420G>T
c.1662G>T (p.Gln554His)
c.2043G>T (p.Gln681His)
c.1632G>T (p.Gln544His)
c.1785G>T (p.Gln595His)
n.2176G>T
n.2500G>T
n.2143G>T
19g.11123200delCA10585796LDLRc.2425del (p.Glu809ArgfsTer7)
c.*236del (n.*236del)
c.2047del (p.Glu683ArgfsTer7)
c.2167del (p.Glu723ArgfsTer7)
c.2421del
c.1663del (p.Glu555ArgfsTer7)
c.2044del (p.Glu682ArgfsTer7)
c.1633del (p.Glu545ArgfsTer7)
c.1786del (p.Glu596ArgfsTer7)
n.2177del
n.2501del
n.2144del
 ClinVar dbSNP
19g.11123200G>ACA404094832LDLRc.2425G>A (p.Glu809Lys)
c.*236G>A (n.*236G>A)
c.2047G>A (p.Glu683Lys)
c.2167G>A (p.Glu723Lys)
c.2421G>A
c.1663G>A (p.Glu555Lys)
c.2044G>A (p.Glu682Lys)
c.1633G>A (p.Glu545Lys)
c.1786G>A (p.Glu596Lys)
n.2177G>A
n.2501G>A
n.2144G>A
 gnomAD v4 COSMIC
19g.11123200G>CCA404094833LDLRc.2425G>C (p.Glu809Gln)
c.*236G>C (n.*236G>C)
c.2047G>C (p.Glu683Gln)
c.2167G>C (p.Glu723Gln)
c.2421G>C
c.1663G>C (p.Glu555Gln)
c.2044G>C (p.Glu682Gln)
c.1633G>C (p.Glu545Gln)
c.1786G>C (p.Glu596Gln)
n.2177G>C
n.2501G>C
n.2144G>C
19g.11123200G=CA2322777176LDLRc.2425G= (p.Glu809=)
c.*236G= (n.*236G=)
c.2047G= (p.Glu683=)
c.2167G= (p.Glu723=)
c.2421G=
c.1663G= (p.Glu555=)
c.2044G= (p.Glu682=)
c.1633G= (p.Glu545=)
c.1786G= (p.Glu596=)
n.2177G=
n.2501G=
n.2144G=
19g.11123200G>TCA10654855LDLRc.2425G>T (p.Glu809Ter)
c.*236G>T (n.*236G>T)
c.2047G>T (p.Glu683Ter)
c.2167G>T (p.Glu723Ter)
c.2421G>T
c.1663G>T (p.Glu555Ter)
c.2044G>T (p.Glu682Ter)
c.1633G>T (p.Glu545Ter)
c.1786G>T (p.Glu596Ter)
n.2177G>T
n.2501G>T
n.2144G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11123201A=CA2322777177LDLRc.2426A= (p.Glu809=)
c.*237A= (n.*237A=)
c.2048A= (p.Glu683=)
c.2168A= (p.Glu723=)
c.2422A=
c.1664A= (p.Glu555=)
c.2045A= (p.Glu682=)
c.1634A= (p.Glu545=)
c.1787A= (p.Glu596=)
n.2178A=
n.2502A=
n.2145A=
19g.11123201A>CCA404094836LDLRc.2426A>C (p.Glu809Ala)
c.*237A>C (n.*237A>C)
c.2048A>C (p.Glu683Ala)
c.2168A>C (p.Glu723Ala)
c.2422A>C
c.1664A>C (p.Glu555Ala)
c.2045A>C (p.Glu682Ala)
c.1634A>C (p.Glu545Ala)
c.1787A>C (p.Glu596Ala)
n.2178A>C
n.2502A>C
n.2145A>C
19g.11123201A>GCA404094838LDLRc.2426A>G (p.Glu809Gly)
c.*237A>G (n.*237A>G)
c.2048A>G (p.Glu683Gly)
c.2168A>G (p.Glu723Gly)
c.2422A>G
c.1664A>G (p.Glu555Gly)
c.2045A>G (p.Glu682Gly)
c.1634A>G (p.Glu545Gly)
c.1787A>G (p.Glu596Gly)
n.2178A>G
n.2502A>G
n.2145A>G
 dbSNP gnomAD v2 gnomAD v4
19g.11123201A>TCA404094839LDLRc.2426A>T (p.Glu809Val)
c.*237A>T (n.*237A>T)
c.2048A>T (p.Glu683Val)
c.2168A>T (p.Glu723Val)
c.2422A>T
c.1664A>T (p.Glu555Val)
c.2045A>T (p.Glu682Val)
c.1634A>T (p.Glu545Val)
c.1787A>T (p.Glu596Val)
n.2178A>T
n.2502A>T
n.2145A>T
19g.11123202G>ACA505486875LDLRc.2427G>A (p.Glu809=)
c.*238G>A (n.*238G>A)
c.2049G>A (p.Glu683=)
c.2169G>A (p.Glu723=)
c.2423G>A
c.1665G>A (p.Glu555=)
c.2046G>A (p.Glu682=)
c.1635G>A (p.Glu545=)
c.1788G>A (p.Glu596=)
n.2179G>A
n.2503G>A
n.2146G>A
19g.11123202G>CCA404094841LDLRc.2427G>C (p.Glu809Asp)
c.*238G>C (n.*238G>C)
c.2049G>C (p.Glu683Asp)
c.2169G>C (p.Glu723Asp)
c.2423G>C
c.1665G>C (p.Glu555Asp)
c.2046G>C (p.Glu682Asp)
c.1635G>C (p.Glu545Asp)
c.1788G>C (p.Glu596Asp)
n.2179G>C
n.2503G>C
n.2146G>C
19g.11123202G>TCA404094842LDLRc.2427G>T (p.Glu809Asp)
c.*238G>T (n.*238G>T)
c.2049G>T (p.Glu683Asp)
c.2169G>T (p.Glu723Asp)
c.2423G>T
c.1665G>T (p.Glu555Asp)
c.2046G>T (p.Glu682Asp)
c.1635G>T (p.Glu545Asp)
c.1788G>T (p.Glu596Asp)
n.2179G>T
n.2503G>T
n.2146G>T
19g.11123203A>CCA404094844LDLRc.2428A>C (p.Thr810Pro)
c.*239A>C (n.*239A>C)
c.2050A>C (p.Thr684Pro)
c.2170A>C (p.Thr724Pro)
c.2424A>C
c.1666A>C (p.Thr556Pro)
c.2047A>C (p.Thr683Pro)
c.1636A>C (p.Thr546Pro)
c.1789A>C (p.Thr597Pro)
n.2180A>C
n.2504A>C
n.2147A>C
19g.11123203A>GCA404094848LDLRc.2428A>G (p.Thr810Ala)
c.*239A>G (n.*239A>G)
c.2050A>G (p.Thr684Ala)
c.2170A>G (p.Thr724Ala)
c.2424A>G
c.1666A>G (p.Thr556Ala)
c.2047A>G (p.Thr683Ala)
c.1636A>G (p.Thr546Ala)
c.1789A>G (p.Thr597Ala)
n.2180A>G
n.2504A>G
n.2147A>G
19g.11123203A>TCA404094846LDLRc.2428A>T (p.Thr810Ser)
c.*239A>T (n.*239A>T)
c.2050A>T (p.Thr684Ser)
c.2170A>T (p.Thr724Ser)
c.2424A>T
c.1666A>T (p.Thr556Ser)
c.2047A>T (p.Thr683Ser)
c.1636A>T (p.Thr546Ser)
c.1789A>T (p.Thr597Ser)
n.2180A>T
n.2504A>T
n.2147A>T
19g.11123204C>ACA404094849LDLRc.2429C>A (p.Thr810Lys)
c.*240C>A (n.*240C>A)
c.2051C>A (p.Thr684Lys)
c.2171C>A (p.Thr724Lys)
c.2425C>A
c.1667C>A (p.Thr556Lys)
c.2048C>A (p.Thr683Lys)
c.1637C>A (p.Thr546Lys)
c.1790C>A (p.Thr597Lys)
n.2181C>A
n.2505C>A
n.2148C>A
19g.11123204C=CA2322777178LDLRc.2429C= (p.Thr810=)
c.*240C= (n.*240C=)
c.2051C= (p.Thr684=)
c.2171C= (p.Thr724=)
c.2425C=
c.1667C= (p.Thr556=)
c.2048C= (p.Thr683=)
c.1637C= (p.Thr546=)
c.1790C= (p.Thr597=)
n.2181C=
n.2505C=
n.2148C=
19g.11123204C>GCA404094850LDLRc.2429C>G (p.Thr810Arg)
c.*240C>G (n.*240C>G)
c.2051C>G (p.Thr684Arg)
c.2171C>G (p.Thr724Arg)
c.2425C>G
c.1667C>G (p.Thr556Arg)
c.2048C>G (p.Thr683Arg)
c.1637C>G (p.Thr546Arg)
c.1790C>G (p.Thr597Arg)
n.2181C>G
n.2505C>G
n.2148C>G
19g.11123204C>TCA10585797LDLRc.2429C>T (p.Thr810Ile)
c.*240C>T (n.*240C>T)
c.2051C>T (p.Thr684Ile)
c.2171C>T (p.Thr724Ile)
c.2425C>T
c.1667C>T (p.Thr556Ile)
c.2048C>T (p.Thr683Ile)
c.1637C>T (p.Thr546Ile)
c.1790C>T (p.Thr597Ile)
n.2181C>T
n.2505C>T
n.2148C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11123205A>CCA505486882LDLRc.2430A>C (p.Thr810=)
c.*241A>C (n.*241A>C)
c.2052A>C (p.Thr684=)
c.2172A>C (p.Thr724=)
c.2426A>C
c.1668A>C (p.Thr556=)
c.2049A>C (p.Thr683=)
c.1638A>C (p.Thr546=)
c.1791A>C (p.Thr597=)
n.2182A>C
n.2506A>C
n.2149A>C
19g.11123205A>GCA505486881LDLRc.2430A>G (p.Thr810=)
c.*241A>G (n.*241A>G)
c.2052A>G (p.Thr684=)
c.2172A>G (p.Thr724=)
c.2426A>G
c.1668A>G (p.Thr556=)
c.2049A>G (p.Thr683=)
c.1638A>G (p.Thr546=)
c.1791A>G (p.Thr597=)
n.2182A>G
n.2506A>G
n.2149A>G
19g.11123205A>TCA505486880LDLRc.2430A>T (p.Thr810=)
c.*241A>T (n.*241A>T)
c.2052A>T (p.Thr684=)
c.2172A>T (p.Thr724=)
c.2426A>T
c.1668A>T (p.Thr556=)
c.2049A>T (p.Thr683=)
c.1638A>T (p.Thr546=)
c.1791A>T (p.Thr597=)
n.2182A>T
n.2506A>T
n.2149A>T
 ClinVar dbSNP
19g.11123206T>ACA404094853LDLRc.2431T>A (p.Ser811Thr)
c.*242T>A (n.*242T>A)
c.2053T>A (p.Ser685Thr)
c.2173T>A (p.Ser725Thr)
c.2427T>A
c.1669T>A (p.Ser557Thr)
c.2050T>A (p.Ser684Thr)
c.1639T>A (p.Ser547Thr)
c.1792T>A (p.Ser598Thr)
n.2183T>A
n.2507T>A
n.2150T>A
19g.11123206T>CCA404094854LDLRc.2431T>C (p.Ser811Pro)
c.*242T>C (n.*242T>C)
c.2053T>C (p.Ser685Pro)
c.2173T>C (p.Ser725Pro)
c.2427T>C
c.1669T>C (p.Ser557Pro)
c.2050T>C (p.Ser684Pro)
c.1639T>C (p.Ser547Pro)
c.1792T>C (p.Ser598Pro)
n.2183T>C
n.2507T>C
n.2150T>C
 dbSNP
19g.11123206T>GCA404094856LDLRc.2431T>G (p.Ser811Ala)
c.*242T>G (n.*242T>G)
c.2053T>G (p.Ser685Ala)
c.2173T>G (p.Ser725Ala)
c.2427T>G
c.1669T>G (p.Ser557Ala)
c.2050T>G (p.Ser684Ala)
c.1639T>G (p.Ser547Ala)
c.1792T>G (p.Ser598Ala)
n.2183T>G
n.2507T>G
n.2150T>G
19g.11123206T=CA2322777180LDLRc.2431T= (p.Ser811=)
c.*242T= (n.*242T=)
c.2053T= (p.Ser685=)
c.2173T= (p.Ser725=)
c.2427T=
c.1669T= (p.Ser557=)
c.2050T= (p.Ser684=)
c.1639T= (p.Ser547=)
c.1792T= (p.Ser598=)
n.2183T=
n.2507T=
n.2150T=
19g.11123206_11123207delinsTCCA2322777179LDLRc.2431_2432delinsTC (p.Ser811=)
c.*242_*243delinsTC (n.*242_*243delinsTC)
c.2053_2054delinsTC (p.Ser685=)
c.2173_2174delinsTC (p.Ser725=)
c.2427_2428delinsTC
c.1669_1670delinsTC (p.Ser557=)
c.2050_2051delinsTC (p.Ser684=)
c.1639_1640delinsTC (p.Ser547=)
c.1792_1793delinsTC (p.Ser598=)
n.2183_2184delinsTC
n.2507_2508delinsTC
n.2150_2151delinsTC
19g.11123207C>ACA404094859LDLRc.2432C>A (p.Ser811Tyr)
c.*243C>A (n.*243C>A)
c.2054C>A (p.Ser685Tyr)
c.2174C>A (p.Ser725Tyr)
c.2428C>A
c.1670C>A (p.Ser557Tyr)
c.2051C>A (p.Ser684Tyr)
c.1640C>A (p.Ser547Tyr)
c.1793C>A (p.Ser598Tyr)
n.2184C>A
n.2508C>A
n.2151C>A
19g.11123207C>GCA404094861LDLRc.2432C>G (p.Ser811Cys)
c.*243C>G (n.*243C>G)
c.2054C>G (p.Ser685Cys)
c.2174C>G (p.Ser725Cys)
c.2428C>G
c.1670C>G (p.Ser557Cys)
c.2051C>G (p.Ser684Cys)
c.1640C>G (p.Ser547Cys)
c.1793C>G (p.Ser598Cys)
n.2184C>G
n.2508C>G
n.2151C>G
 gnomAD v4
19g.11123207C>TCA404094862LDLRc.2432C>T (p.Ser811Phe)
c.*243C>T (n.*243C>T)
c.2054C>T (p.Ser685Phe)
c.2174C>T (p.Ser725Phe)
c.2428C>T
c.1670C>T (p.Ser557Phe)
c.2051C>T (p.Ser684Phe)
c.1640C>T (p.Ser547Phe)
c.1793C>T (p.Ser598Phe)
n.2184C>T
n.2508C>T
n.2151C>T
19g.11123208delCA10585798LDLRc.2433del (p.Thr812ProfsTer4)
c.*244del (n.*244del)
c.2055del (p.Thr686ProfsTer4)
c.2175del (p.Thr726ProfsTer4)
c.2429del
c.1671del (p.Thr558ProfsTer4)
c.2052del (p.Thr685ProfsTer4)
c.1641del (p.Thr548ProfsTer4)
c.1794del (p.Thr599ProfsTer4)
n.2185del
n.2509del
n.2152del
 ClinVar dbSNP
19g.11123208C>ACA505486883LDLRc.2433C>A (p.Ser811=)
c.*244C>A (n.*244C>A)
c.2055C>A (p.Ser685=)
c.2175C>A (p.Ser725=)
c.2429C>A
c.1671C>A (p.Ser557=)
c.2052C>A (p.Ser684=)
c.1641C>A (p.Ser547=)
c.1794C>A (p.Ser598=)
n.2185C>A
n.2509C>A
n.2152C>A
19g.11123208C>GCA505486884LDLRc.2433C>G (p.Ser811=)
c.*244C>G (n.*244C>G)
c.2055C>G (p.Ser685=)
c.2175C>G (p.Ser725=)
c.2429C>G
c.1671C>G (p.Ser557=)
c.2052C>G (p.Ser684=)
c.1641C>G (p.Ser547=)
c.1794C>G (p.Ser598=)
n.2185C>G
n.2509C>G
n.2152C>G
19g.11123208C>TCA505486885LDLRc.2433C>T (p.Ser811=)
c.*244C>T (n.*244C>T)
c.2055C>T (p.Ser685=)
c.2175C>T (p.Ser725=)
c.2429C>T
c.1671C>T (p.Ser557=)
c.2052C>T (p.Ser684=)
c.1641C>T (p.Ser547=)
c.1794C>T (p.Ser598=)
n.2185C>T
n.2509C>T
n.2152C>T
 gnomAD v4
19g.11123209A=CA2322777181LDLRc.2434A= (p.Thr812=)
c.*245A= (n.*245A=)
c.2056A= (p.Thr686=)
c.2176A= (p.Thr726=)
c.2430A=
c.1672A= (p.Thr558=)
c.2053A= (p.Thr685=)
c.1642A= (p.Thr548=)
c.1795A= (p.Thr599=)
n.2186A=
n.2510A=
n.2153A=
19g.11123209A>CCA404094865LDLRc.2434A>C (p.Thr812Pro)
c.*245A>C (n.*245A>C)
c.2056A>C (p.Thr686Pro)
c.2176A>C (p.Thr726Pro)
c.2430A>C
c.1672A>C (p.Thr558Pro)
c.2053A>C (p.Thr685Pro)
c.1642A>C (p.Thr548Pro)
c.1795A>C (p.Thr599Pro)
n.2186A>C
n.2510A>C
n.2153A>C
 dbSNP
19g.11123209A>GCA404094866LDLRc.2434A>G (p.Thr812Ala)
c.*245A>G (n.*245A>G)
c.2056A>G (p.Thr686Ala)
c.2176A>G (p.Thr726Ala)
c.2430A>G
c.1672A>G (p.Thr558Ala)
c.2053A>G (p.Thr685Ala)
c.1642A>G (p.Thr548Ala)
c.1795A>G (p.Thr599Ala)
n.2186A>G
n.2510A>G
n.2153A>G
 dbSNP gnomAD v3 gnomAD v4
19g.11123209A>TCA404094867LDLRc.2434A>T (p.Thr812Ser)
c.*245A>T (n.*245A>T)
c.2056A>T (p.Thr686Ser)
c.2176A>T (p.Thr726Ser)
c.2430A>T
c.1672A>T (p.Thr558Ser)
c.2053A>T (p.Thr685Ser)
c.1642A>T (p.Thr548Ser)
c.1795A>T (p.Thr599Ser)
n.2186A>T
n.2510A>T
n.2153A>T
19g.11123209_11123210delinsACCA2322777182LDLRc.2434_2435delinsAC (p.Thr812=)
c.*245_*246delinsAC (n.*245_*246delinsAC)
c.2056_2057delinsAC (p.Thr686=)
c.2176_2177delinsAC (p.Thr726=)
c.2430_2431delinsAC
c.1672_1673delinsAC (p.Thr558=)
c.2053_2054delinsAC (p.Thr685=)
c.1642_1643delinsAC (p.Thr548=)
c.1795_1796delinsAC (p.Thr599=)
n.2186_2187delinsAC
n.2510_2511delinsAC
n.2153_2154delinsAC
19g.11123210C>ACA404094870LDLRc.2435C>A (p.Thr812Asn)
c.*246C>A (n.*246C>A)
c.2057C>A (p.Thr686Asn)
c.2177C>A (p.Thr726Asn)
c.2431C>A
c.1673C>A (p.Thr558Asn)
c.2054C>A (p.Thr685Asn)
c.1643C>A (p.Thr548Asn)
c.1796C>A (p.Thr599Asn)
n.2187C>A
n.2511C>A
n.2154C>A
19g.11123210C=CA2322777183LDLRc.2435C= (p.Thr812=)
c.*246C= (n.*246C=)
c.2057C= (p.Thr686=)
c.2177C= (p.Thr726=)
c.2431C=
c.1673C= (p.Thr558=)
c.2054C= (p.Thr685=)
c.1643C= (p.Thr548=)
c.1796C= (p.Thr599=)
n.2187C=
n.2511C=
n.2154C=
19g.11123210C>GCA404094873LDLRc.2435C>G (p.Thr812Ser)
c.*246C>G (n.*246C>G)
c.2057C>G (p.Thr686Ser)
c.2177C>G (p.Thr726Ser)
c.2431C>G
c.1673C>G (p.Thr558Ser)
c.2054C>G (p.Thr685Ser)
c.1643C>G (p.Thr548Ser)
c.1796C>G (p.Thr599Ser)
n.2187C>G
n.2511C>G
n.2154C>G
19g.11123210C>TCA023649LDLRc.2435C>T (p.Thr812Ile)
c.*246C>T (n.*246C>T)
c.2057C>T (p.Thr686Ile)
c.2177C>T (p.Thr726Ile)
c.2431C>T
c.1673C>T (p.Thr558Ile)
c.2054C>T (p.Thr685Ile)
c.1643C>T (p.Thr548Ile)
c.1796C>T (p.Thr599Ile)
n.2187C>T
n.2511C>T
n.2154C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123211delCA10585799LDLRc.2436del (p.Val813SerfsTer3)
c.*247del (n.*247del)
c.2058del (p.Val687SerfsTer3)
c.2178del (p.Val727SerfsTer3)
c.2432del
c.1674del (p.Val559SerfsTer3)
c.2055del (p.Val686SerfsTer3)
c.1644del (p.Val549SerfsTer3)
c.1797del (p.Val600SerfsTer3)
n.2188del
n.2512del
n.2155del
 ClinVar dbSNP
19g.11123211C>ACA505486886LDLRc.2436C>A (p.Thr812=)
c.*247C>A (n.*247C>A)
c.2058C>A (p.Thr686=)
c.2178C>A (p.Thr726=)
c.2432C>A
c.1674C>A (p.Thr558=)
c.2055C>A (p.Thr685=)
c.1644C>A (p.Thr548=)
c.1797C>A (p.Thr599=)
n.2188C>A
n.2512C>A
n.2155C>A
 ClinVar dbSNP gnomAD v4
19g.11123211C=CA2322777184LDLRc.2436C= (p.Thr812=)
c.*247C= (n.*247C=)
c.2058C= (p.Thr686=)
c.2178C= (p.Thr726=)
c.2432C=
c.1674C= (p.Thr558=)
c.2055C= (p.Thr685=)
c.1644C= (p.Thr548=)
c.1797C= (p.Thr599=)
n.2188C=
n.2512C=
n.2155C=
19g.11123211C>GCA505486888LDLRc.2436C>G (p.Thr812=)
c.*247C>G (n.*247C>G)
c.2058C>G (p.Thr686=)
c.2178C>G (p.Thr726=)
c.2432C>G
c.1674C>G (p.Thr558=)
c.2055C>G (p.Thr685=)
c.1644C>G (p.Thr548=)
c.1797C>G (p.Thr599=)
n.2188C>G
n.2512C>G
n.2155C>G
19g.11123211C>TCA305305073LDLRc.2436C>T (p.Thr812=)
c.*247C>T (n.*247C>T)
c.2058C>T (p.Thr686=)
c.2178C>T (p.Thr726=)
c.2432C>T
c.1674C>T (p.Thr558=)
c.2055C>T (p.Thr685=)
c.1644C>T (p.Thr548=)
c.1797C>T (p.Thr599=)
n.2188C>T
n.2512C>T
n.2155C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11123212G>ACA039072LDLRc.2437G>A (p.Val813Ile)
c.*248G>A (n.*248G>A)
c.2059G>A (p.Val687Ile)
c.2179G>A (p.Val727Ile)
c.2433G>A
c.1675G>A (p.Val559Ile)
c.2056G>A (p.Val686Ile)
c.1645G>A (p.Val549Ile)
c.1798G>A (p.Val600Ile)
n.2189G>A
n.2513G>A
n.2156G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11123212G>CCA404094877LDLRc.2437G>C (p.Val813Leu)
c.*248G>C (n.*248G>C)
c.2059G>C (p.Val687Leu)
c.2179G>C (p.Val727Leu)
c.2433G>C
c.1675G>C (p.Val559Leu)
c.2056G>C (p.Val686Leu)
c.1645G>C (p.Val549Leu)
c.1798G>C (p.Val600Leu)
n.2189G>C
n.2513G>C
n.2156G>C
19g.11123212G=CA2322777185LDLRc.2437G= (p.Val813=)
c.*248G= (n.*248G=)
c.2059G= (p.Val687=)
c.2179G= (p.Val727=)
c.2433G=
c.1675G= (p.Val559=)
c.2056G= (p.Val686=)
c.1645G= (p.Val549=)
c.1798G= (p.Val600=)
n.2189G=
n.2513G=
n.2156G=
19g.11123212G>TCA404094879LDLRc.2437G>T (p.Val813Phe)
c.*248G>T (n.*248G>T)
c.2059G>T (p.Val687Phe)
c.2179G>T (p.Val727Phe)
c.2433G>T
c.1675G>T (p.Val559Phe)
c.2056G>T (p.Val686Phe)
c.1645G>T (p.Val549Phe)
c.1798G>T (p.Val600Phe)
n.2189G>T
n.2513G>T
n.2156G>T
19g.11123213_11123217dupCA16609820LDLRc.2438_2442dup (p.Leu815SerfsTer3)
c.*249_*253dup (n.*249_*253dup)
c.2060_2064dup (p.Leu689SerfsTer3)
c.2180_2184dup (p.Leu729SerfsTer3)
c.2434_2438dup
c.1676_1680dup (p.Leu561SerfsTer3)
c.2057_2061dup (p.Leu688SerfsTer3)
c.1646_1650dup (p.Leu551SerfsTer3)
c.1799_1803dup (p.Leu602SerfsTer3)
n.2190_2194dup
n.2514_2518dup
n.2157_2161dup
 ClinVar dbSNP
19g.11123213T>ACA404094881LDLRc.2438T>A (p.Val813Asp)
c.*249T>A (n.*249T>A)
c.2060T>A (p.Val687Asp)
c.2180T>A (p.Val727Asp)
c.2434T>A
c.1676T>A (p.Val559Asp)
c.2057T>A (p.Val686Asp)
c.1646T>A (p.Val549Asp)
c.1799T>A (p.Val600Asp)
n.2190T>A
n.2514T>A
n.2157T>A
 ClinVar dbSNP gnomAD v4
19g.11123213T>CCA404094882LDLRc.2438T>C (p.Val813Ala)
c.*249T>C (n.*249T>C)
c.2060T>C (p.Val687Ala)
c.2180T>C (p.Val727Ala)
c.2434T>C
c.1676T>C (p.Val559Ala)
c.2057T>C (p.Val686Ala)
c.1646T>C (p.Val549Ala)
c.1799T>C (p.Val600Ala)
n.2190T>C
n.2514T>C
n.2157T>C
19g.11123213T>GCA404094884LDLRc.2438T>G (p.Val813Gly)
c.*249T>G (n.*249T>G)
c.2060T>G (p.Val687Gly)
c.2180T>G (p.Val727Gly)
c.2434T>G
c.1676T>G (p.Val559Gly)
c.2057T>G (p.Val686Gly)
c.1646T>G (p.Val549Gly)
c.1799T>G (p.Val600Gly)
n.2190T>G
n.2514T>G
n.2157T>G
19g.11123213T=CA2322777186LDLRc.2438T= (p.Val813=)
c.*249T= (n.*249T=)
c.2060T= (p.Val687=)
c.2180T= (p.Val727=)
c.2434T=
c.1676T= (p.Val559=)
c.2057T= (p.Val686=)
c.1646T= (p.Val549=)
c.1799T= (p.Val600=)
n.2190T=
n.2514T=
n.2157T=
19g.11123214C>ACA505486891LDLRc.2439C>A (p.Val813=)
c.*250C>A (n.*250C>A)
c.2061C>A (p.Val687=)
c.2181C>A (p.Val727=)
c.2435C>A
c.1677C>A (p.Val559=)
c.2058C>A (p.Val686=)
c.1647C>A (p.Val549=)
c.1800C>A (p.Val600=)
n.2191C>A
n.2515C>A
n.2158C>A
19g.11123214C>GCA505486893LDLRc.2439C>G (p.Val813=)
c.*250C>G (n.*250C>G)
c.2061C>G (p.Val687=)
c.2181C>G (p.Val727=)
c.2435C>G
c.1677C>G (p.Val559=)
c.2058C>G (p.Val686=)
c.1647C>G (p.Val549=)
c.1800C>G (p.Val600=)
n.2191C>G
n.2515C>G
n.2158C>G
19g.11123214C>TCA505486895LDLRc.2439C>T (p.Val813=)
c.*250C>T (n.*250C>T)
c.2061C>T (p.Val687=)
c.2181C>T (p.Val727=)
c.2435C>T
c.1677C>T (p.Val559=)
c.2058C>T (p.Val686=)
c.1647C>T (p.Val549=)
c.1800C>T (p.Val600=)
n.2191C>T
n.2515C>T
n.2158C>T
19g.11123215A>CCA505486896LDLRc.2440A>C (p.Arg814=)
c.*251A>C (n.*251A>C)
c.2062A>C (p.Arg688=)
c.2182A>C (p.Arg728=)
c.2436A>C
c.1678A>C (p.Arg560=)
c.2059A>C (p.Arg687=)
c.1648A>C (p.Arg550=)
c.1801A>C (p.Arg601=)
n.2192A>C
n.2516A>C
n.2159A>C
19g.11123215A>GCA404094886LDLRc.2440A>G (p.Arg814Gly)
c.*251A>G (n.*251A>G)
c.2062A>G (p.Arg688Gly)
c.2182A>G (p.Arg728Gly)
c.2436A>G
c.1678A>G (p.Arg560Gly)
c.2059A>G (p.Arg687Gly)
c.1648A>G (p.Arg550Gly)
c.1801A>G (p.Arg601Gly)
n.2192A>G
n.2516A>G
n.2159A>G
19g.11123215A>TCA404094887LDLRc.2440A>T (p.Arg814Trp)
c.*251A>T (n.*251A>T)
c.2062A>T (p.Arg688Trp)
c.2182A>T (p.Arg728Trp)
c.2436A>T
c.1678A>T (p.Arg560Trp)
c.2059A>T (p.Arg687Trp)
c.1648A>T (p.Arg550Trp)
c.1801A>T (p.Arg601Trp)
n.2192A>T
n.2516A>T
n.2159A>T
19g.11123215_11123216delinsAGCA2322777187LDLRc.2440_2441delinsAG (p.Arg814=)
c.*251_*252delinsAG (n.*251_*252delinsAG)
c.2062_2063delinsAG (p.Arg688=)
c.2182_2183delinsAG (p.Arg728=)
c.2436_2437delinsAG
c.1678_1679delinsAG (p.Arg560=)
c.2059_2060delinsAG (p.Arg687=)
c.1648_1649delinsAG (p.Arg550=)
c.1801_1802delinsAG (p.Arg601=)
n.2192_2193delinsAG
n.2516_2517delinsAG
n.2159_2160delinsAG
19g.11123216G>ACA404094894LDLRc.2441G>A (p.Arg814Lys)
c.*252G>A (n.*252G>A)
c.2063G>A (p.Arg688Lys)
c.2183G>A (p.Arg728Lys)
c.2437G>A
c.1679G>A (p.Arg560Lys)
c.2060G>A (p.Arg687Lys)
c.1649G>A (p.Arg550Lys)
c.1802G>A (p.Arg601Lys)
n.2193G>A
n.2517G>A
n.2160G>A
 gnomAD v4
19g.11123216G>CCA404094892LDLRc.2441G>C (p.Arg814Thr)
c.*252G>C (n.*252G>C)
c.2063G>C (p.Arg688Thr)
c.2183G>C (p.Arg728Thr)
c.2437G>C
c.1679G>C (p.Arg560Thr)
c.2060G>C (p.Arg687Thr)
c.1649G>C (p.Arg550Thr)
c.1802G>C (p.Arg601Thr)
n.2193G>C
n.2517G>C
n.2160G>C
19g.11123216G>TCA404094891LDLRc.2441G>T (p.Arg814Met)
c.*252G>T (n.*252G>T)
c.2063G>T (p.Arg688Met)
c.2183G>T (p.Arg728Met)
c.2437G>T
c.1679G>T (p.Arg560Met)
c.2060G>T (p.Arg687Met)
c.1649G>T (p.Arg550Met)
c.1802G>T (p.Arg601Met)
n.2193G>T
n.2517G>T
n.2160G>T
19g.11123217delCA10585800LDLRc.2442del (p.Arg814SerfsTer2)
c.*253del (n.*253del)
c.2064del (p.Arg688SerfsTer2)
c.2184del (p.Arg728SerfsTer2)
c.2438del
c.1680del (p.Arg560SerfsTer2)
c.2061del (p.Arg687SerfsTer2)
c.1650del (p.Arg550SerfsTer2)
c.1803del (p.Arg601SerfsTer2)
n.2194del
n.2518del
n.2161del
 ClinVar dbSNP
19g.11123216_11123227delinsGGCTAAAGGTCACA2322777188LDLRc.2441_2452delinsGGCTAAAGGTCA (p.Arg814=)
c.*252_*263delinsGGCTAAAGGTCA (n.*252_*263delinsGGCTAAAGGTCA)
c.2063_2074delinsGGCTAAAGGTCA (p.Arg688=)
c.2183_2194delinsGGCTAAAGGTCA (p.Arg728=)
c.2437_2448delinsGGCTAAAGGTCA
c.1679_1690delinsGGCTAAAGGTCA (p.Arg560=)
c.2060_2071delinsGGCTAAAGGTCA (p.Arg687=)
c.1649_1660delinsGGCTAAAGGTCA (p.Arg550=)
c.1802_1813delinsGGCTAAAGGTCA (p.Arg601=)
n.2193_2204delinsGGCTAAAGGTCA
n.2517_2528delinsGGCTAAAGGTCA
n.2160_2171delinsGGCTAAAGGTCA
19g.11123217G>ACA505486897LDLRc.2442G>A (p.Arg814=)
c.*253G>A (n.*253G>A)
c.2064G>A (p.Arg688=)
c.2184G>A (p.Arg728=)
c.2438G>A
c.1680G>A (p.Arg560=)
c.2061G>A (p.Arg687=)
c.1650G>A (p.Arg550=)
c.1803G>A (p.Arg601=)
n.2194G>A
n.2518G>A
n.2161G>A
19g.11123217G>CCA404094897LDLRc.2442G>C (p.Arg814Ser)
c.*253G>C (n.*253G>C)
c.2064G>C (p.Arg688Ser)
c.2184G>C (p.Arg728Ser)
c.2438G>C
c.1680G>C (p.Arg560Ser)
c.2061G>C (p.Arg687Ser)
c.1650G>C (p.Arg550Ser)
c.1803G>C (p.Arg601Ser)
n.2194G>C
n.2518G>C
n.2161G>C
 ClinVar dbSNP
19g.11123217G=CA2322777189LDLRc.2442G= (p.Arg814=)
c.*253G= (n.*253G=)
c.2064G= (p.Arg688=)
c.2184G= (p.Arg728=)
c.2438G=
c.1680G= (p.Arg560=)
c.2061G= (p.Arg687=)
c.1650G= (p.Arg550=)
c.1803G= (p.Arg601=)
n.2194G=
n.2518G=
n.2161G=
19g.11123217G>TCA404094898LDLRc.2442G>T (p.Arg814Ser)
c.*253G>T (n.*253G>T)
c.2064G>T (p.Arg688Ser)
c.2184G>T (p.Arg728Ser)
c.2438G>T
c.1680G>T (p.Arg560Ser)
c.2061G>T (p.Arg687Ser)
c.1650G>T (p.Arg550Ser)
c.1803G>T (p.Arg601Ser)
n.2194G>T
n.2518G>T
n.2161G>T
19g.11123220_11123230delCA10585802LDLRc.2445_2455del (p.Lys816HisfsTer?)
c.*256_*266del (n.*256_*266del)
c.2067_2077del (p.Lys690HisfsTer?)
c.2187_2197del (p.Lys730HisfsTer?)
c.2441_2451del
c.1683_1693del (p.Lys562HisfsTer?)
c.2064_2074del (p.Lys689HisfsTer?)
c.1653_1663del (p.Lys552HisfsTer?)
c.1806_1816del (p.Lys603HisfsTer?)
n.2197_2207del
n.2521_2531del
n.2164_2174del
 ClinVar dbSNP gnomAD v4
19g.11123218C>ACA404094902LDLRc.2443C>A (p.Leu815Ile)
c.*254C>A (n.*254C>A)
c.2065C>A (p.Leu689Ile)
c.2185C>A (p.Leu729Ile)
c.2439C>A
c.1681C>A (p.Leu561Ile)
c.2062C>A (p.Leu688Ile)
c.1651C>A (p.Leu551Ile)
c.1804C>A (p.Leu602Ile)
n.2195C>A
n.2519C>A
n.2162C>A
 dbSNP gnomAD v2 gnomAD v4
19g.11123218C=CA2322777190LDLRc.2443C= (p.Leu815=)
c.*254C= (n.*254C=)
c.2065C= (p.Leu689=)
c.2185C= (p.Leu729=)
c.2439C=
c.1681C= (p.Leu561=)
c.2062C= (p.Leu688=)
c.1651C= (p.Leu551=)
c.1804C= (p.Leu602=)
n.2195C=
n.2519C=
n.2162C=
19g.11123218C>GCA404094899LDLRc.2443C>G (p.Leu815Val)
c.*254C>G (n.*254C>G)
c.2065C>G (p.Leu689Val)
c.2185C>G (p.Leu729Val)
c.2439C>G
c.1681C>G (p.Leu561Val)
c.2062C>G (p.Leu688Val)
c.1651C>G (p.Leu551Val)
c.1804C>G (p.Leu602Val)
n.2195C>G
n.2519C>G
n.2162C>G
 gnomAD v4
19g.11123218C>TCA505486899LDLRc.2443C>T (p.Leu815=)
c.*254C>T (n.*254C>T)
c.2065C>T (p.Leu689=)
c.2185C>T (p.Leu729=)
c.2439C>T
c.1681C>T (p.Leu561=)
c.2062C>T (p.Leu688=)
c.1651C>T (p.Leu551=)
c.1804C>T (p.Leu602=)
n.2195C>T
n.2519C>T
n.2162C>T
19g.11123219T>ACA404094904LDLRc.2444T>A (p.Leu815Gln)
c.*255T>A (n.*255T>A)
c.2066T>A (p.Leu689Gln)
c.2186T>A (p.Leu729Gln)
c.2440T>A
c.1682T>A (p.Leu561Gln)
c.2063T>A (p.Leu688Gln)
c.1652T>A (p.Leu551Gln)
c.1805T>A (p.Leu602Gln)
n.2196T>A
n.2520T>A
n.2163T>A
19g.11123219T>CCA404094905LDLRc.2444T>C (p.Leu815Pro)
c.*255T>C (n.*255T>C)
c.2066T>C (p.Leu689Pro)
c.2186T>C (p.Leu729Pro)
c.2440T>C
c.1682T>C (p.Leu561Pro)
c.2063T>C (p.Leu688Pro)
c.1652T>C (p.Leu551Pro)
c.1805T>C (p.Leu602Pro)
n.2196T>C
n.2520T>C
n.2163T>C
19g.11123219T>GCA404094907LDLRc.2444T>G (p.Leu815Arg)
c.*255T>G (n.*255T>G)
c.2066T>G (p.Leu689Arg)
c.2186T>G (p.Leu729Arg)
c.2440T>G
c.1682T>G (p.Leu561Arg)
c.2063T>G (p.Leu688Arg)
c.1652T>G (p.Leu551Arg)
c.1805T>G (p.Leu602Arg)
n.2196T>G
n.2520T>G
n.2163T>G
19g.11123219dupCA10585801LDLRc.2444dup (p.Val817GlyfsTer?)
c.*255dup (n.*255dup)
c.2066dup (p.Val691GlyfsTer?)
c.2186dup (p.Val731GlyfsTer?)
c.2440dup
c.1682dup (p.Val563GlyfsTer?)
c.2063dup (p.Val690GlyfsTer?)
c.1652dup (p.Val553GlyfsTer?)
c.1805dup (p.Val604GlyfsTer?)
n.2196dup
n.2520dup
n.2163dup
 ClinVar dbSNP
19g.11123220A>CCA505486901LDLRc.2445A>C (p.Leu815=)
c.*256A>C (n.*256A>C)
c.2067A>C (p.Leu689=)
c.2187A>C (p.Leu729=)
c.2441A>C
c.1683A>C (p.Leu561=)
c.2064A>C (p.Leu688=)
c.1653A>C (p.Leu551=)
c.1806A>C (p.Leu602=)
n.2197A>C
n.2521A>C
n.2164A>C
19g.11123220A>GCA505486902LDLRc.2445A>G (p.Leu815=)
c.*256A>G (n.*256A>G)
c.2067A>G (p.Leu689=)
c.2187A>G (p.Leu729=)
c.2441A>G
c.1683A>G (p.Leu561=)
c.2064A>G (p.Leu688=)
c.1653A>G (p.Leu551=)
c.1806A>G (p.Leu602=)
n.2197A>G
n.2521A>G
n.2164A>G
 gnomAD v4
19g.11123220A>TCA505486903LDLRc.2445A>T (p.Leu815=)
c.*256A>T (n.*256A>T)
c.2067A>T (p.Leu689=)
c.2187A>T (p.Leu729=)
c.2441A>T
c.1683A>T (p.Leu561=)
c.2064A>T (p.Leu688=)
c.1653A>T (p.Leu551=)
c.1806A>T (p.Leu602=)
n.2197A>T
n.2521A>T
n.2164A>T
19g.11123221A=CA2322777191LDLRc.2446A= (p.Lys816=)
c.*257A= (n.*257A=)
c.2068A= (p.Lys690=)
c.2188A= (p.Lys730=)
c.2442A=
c.1684A= (p.Lys562=)
c.2065A= (p.Lys689=)
c.1654A= (p.Lys552=)
c.1807A= (p.Lys603=)
n.2198A=
n.2522A=
n.2165A=
19g.11123221A>CCA404094912LDLRc.2446A>C (p.Lys816Gln)
c.*257A>C (n.*257A>C)
c.2068A>C (p.Lys690Gln)
c.2188A>C (p.Lys730Gln)
c.2442A>C
c.1684A>C (p.Lys562Gln)
c.2065A>C (p.Lys689Gln)
c.1654A>C (p.Lys552Gln)
c.1807A>C (p.Lys603Gln)
n.2198A>C
n.2522A>C
n.2165A>C
19g.11123221A>GCA404094911LDLRc.2446A>G (p.Lys816Glu)
c.*257A>G (n.*257A>G)
c.2068A>G (p.Lys690Glu)
c.2188A>G (p.Lys730Glu)
c.2442A>G
c.1684A>G (p.Lys562Glu)
c.2065A>G (p.Lys689Glu)
c.1654A>G (p.Lys552Glu)
c.1807A>G (p.Lys603Glu)
n.2198A>G
n.2522A>G
n.2165A>G
19g.11123221A>TCA404094909LDLRc.2446A>T (p.Lys816Ter)
c.*257A>T (n.*257A>T)
c.2068A>T (p.Lys690Ter)
c.2188A>T (p.Lys730Ter)
c.2442A>T
c.1684A>T (p.Lys562Ter)
c.2065A>T (p.Lys689Ter)
c.1654A>T (p.Lys552Ter)
c.1807A>T (p.Lys603Ter)
n.2198A>T
n.2522A>T
n.2165A>T
19g.11123222A>CCA404094916LDLRc.2447A>C (p.Lys816Thr)
c.*258A>C (n.*258A>C)
c.2069A>C (p.Lys690Thr)
c.2189A>C (p.Lys730Thr)
c.2443A>C
c.1685A>C (p.Lys562Thr)
c.2066A>C (p.Lys689Thr)
c.1655A>C (p.Lys552Thr)
c.1808A>C (p.Lys603Thr)
n.2199A>C
n.2523A>C
n.2166A>C
19g.11123222A>GCA404094918LDLRc.2447A>G (p.Lys816Arg)
c.*258A>G (n.*258A>G)
c.2069A>G (p.Lys690Arg)
c.2189A>G (p.Lys730Arg)
c.2443A>G
c.1685A>G (p.Lys562Arg)
c.2066A>G (p.Lys689Arg)
c.1655A>G (p.Lys552Arg)
c.1808A>G (p.Lys603Arg)
n.2199A>G
n.2523A>G
n.2166A>G
19g.11123222A>TCA404094921LDLRc.2447A>T (p.Lys816Met)
c.*258A>T (n.*258A>T)
c.2069A>T (p.Lys690Met)
c.2189A>T (p.Lys730Met)
c.2443A>T
c.1685A>T (p.Lys562Met)
c.2066A>T (p.Lys689Met)
c.1655A>T (p.Lys552Met)
c.1808A>T (p.Lys603Met)
n.2199A>T
n.2523A>T
n.2166A>T
 gnomAD v4
19g.11123222_11123223delinsAGCA2322777192LDLRc.2447_2448delinsAG (p.Lys816=)
c.*258_*259delinsAG (n.*258_*259delinsAG)
c.2069_2070delinsAG (p.Lys690=)
c.2189_2190delinsAG (p.Lys730=)
c.2443_2444delinsAG
c.1685_1686delinsAG (p.Lys562=)
c.2066_2067delinsAG (p.Lys689=)
c.1655_1656delinsAG (p.Lys552=)
c.1808_1809delinsAG (p.Lys603=)
n.2199_2200delinsAG
n.2523_2524delinsAG
n.2166_2167delinsAG
19g.11123224_11123228dupCA2573156038LDLRc.2449_2453dup (p.Ser818ArgfsTer7)
c.*260_*264dup (n.*260_*264dup)
c.2071_2075dup (p.Ser692ArgfsTer7)
c.2191_2195dup (p.Ser732ArgfsTer7)
c.2445_2449dup
c.1687_1691dup (p.Ser564ArgfsTer7)
c.2068_2072dup (p.Ser691ArgfsTer7)
c.1657_1661dup (p.Ser554ArgfsTer7)
c.1810_1814dup (p.Ser605ArgfsTer7)
n.2201_2205dup
n.2525_2529dup
n.2168_2172dup
 ClinVar dbSNP
19g.11123224_11123236dupCA10585803LDLRc.2449_2461dup (p.Ala821GlyfsTer?)
c.*260_*272dup (n.*260_*272dup)
c.2071_2083dup (p.Ala695GlyfsTer?)
c.2191_2203dup (p.Ala735GlyfsTer?)
c.2445_2457dup
c.1687_1699dup (p.Ala567GlyfsTer?)
c.2068_2080dup (p.Ala694GlyfsTer?)
c.1657_1669dup (p.Ala557GlyfsTer?)
c.1810_1822dup (p.Ala608GlyfsTer?)
n.2201_2213dup
n.2525_2537dup
n.2168_2180dup
 ClinVar dbSNP
19g.11123223G>ACA505486905LDLRc.2448G>A (p.Lys816=)
c.*259G>A (n.*259G>A)
c.2070G>A (p.Lys690=)
c.2190G>A (p.Lys730=)
c.2444G>A
c.1686G>A (p.Lys562=)
c.2067G>A (p.Lys689=)
c.1656G>A (p.Lys552=)
c.1809G>A (p.Lys603=)
n.2200G>A
n.2524G>A
n.2167G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123223G>CCA404094925LDLRc.2448G>C (p.Lys816Asn)
c.*259G>C (n.*259G>C)
c.2070G>C (p.Lys690Asn)
c.2190G>C (p.Lys730Asn)
c.2444G>C
c.1686G>C (p.Lys562Asn)
c.2067G>C (p.Lys689Asn)
c.1656G>C (p.Lys552Asn)
c.1809G>C (p.Lys603Asn)
n.2200G>C
n.2524G>C
n.2167G>C
19g.11123223G=CA2322777193LDLRc.2448G= (p.Lys816=)
c.*259G= (n.*259G=)
c.2070G= (p.Lys690=)
c.2190G= (p.Lys730=)
c.2444G=
c.1686G= (p.Lys562=)
c.2067G= (p.Lys689=)
c.1656G= (p.Lys552=)
c.1809G= (p.Lys603=)
n.2200G=
n.2524G=
n.2167G=
19g.11123223G>TCA404094928LDLRc.2448G>T (p.Lys816Asn)
c.*259G>T (n.*259G>T)
c.2070G>T (p.Lys690Asn)
c.2190G>T (p.Lys730Asn)
c.2444G>T
c.1686G>T (p.Lys562Asn)
c.2067G>T (p.Lys689Asn)
c.1656G>T (p.Lys552Asn)
c.1809G>T (p.Lys603Asn)
n.2200G>T
n.2524G>T
n.2167G>T
 ClinVar
19g.11123224delCA10585804LDLRc.2449del (p.Val817SerfsTer6)
c.*260del (n.*260del)
c.2071del (p.Val691SerfsTer6)
c.2191del (p.Val731SerfsTer6)
c.2445del
c.1687del (p.Val563SerfsTer6)
c.2068del (p.Val690SerfsTer6)
c.1657del (p.Val553SerfsTer6)
c.1810del (p.Val604SerfsTer6)
n.2201del
n.2525del
n.2168del
 ClinVar dbSNP
19g.11123224G>ACA404094934LDLRc.2449G>A (p.Val817Ile)
c.*260G>A (n.*260G>A)
c.2071G>A (p.Val691Ile)
c.2191G>A (p.Val731Ile)
c.2445G>A
c.1687G>A (p.Val563Ile)
c.2068G>A (p.Val690Ile)
c.1657G>A (p.Val553Ile)
c.1810G>A (p.Val604Ile)
n.2201G>A
n.2525G>A
n.2168G>A
 dbSNP gnomAD v3 gnomAD v4
19g.11123224G>CCA404094941LDLRc.2449G>C (p.Val817Leu)
c.*260G>C (n.*260G>C)
c.2071G>C (p.Val691Leu)
c.2191G>C (p.Val731Leu)
c.2445G>C
c.1687G>C (p.Val563Leu)
c.2068G>C (p.Val690Leu)
c.1657G>C (p.Val553Leu)
c.1810G>C (p.Val604Leu)
n.2201G>C
n.2525G>C
n.2168G>C
19g.11123224G=CA2322777194LDLRc.2449G= (p.Val817=)
c.*260G= (n.*260G=)
c.2071G= (p.Val691=)
c.2191G= (p.Val731=)
c.2445G=
c.1687G= (p.Val563=)
c.2068G= (p.Val690=)
c.1657G= (p.Val553=)
c.1810G= (p.Val604=)
n.2201G=
n.2525G=
n.2168G=
19g.11123224G>TCA404094937LDLRc.2449G>T (p.Val817Phe)
c.*260G>T (n.*260G>T)
c.2071G>T (p.Val691Phe)
c.2191G>T (p.Val731Phe)
c.2445G>T
c.1687G>T (p.Val563Phe)
c.2068G>T (p.Val690Phe)
c.1657G>T (p.Val553Phe)
c.1810G>T (p.Val604Phe)
n.2201G>T
n.2525G>T
n.2168G>T
19g.11123225T>ACA404094945LDLRc.2450T>A (p.Val817Asp)
c.*261T>A (n.*261T>A)
c.2072T>A (p.Val691Asp)
c.2192T>A (p.Val731Asp)
c.2446T>A
c.1688T>A (p.Val563Asp)
c.2069T>A (p.Val690Asp)
c.1658T>A (p.Val553Asp)
c.1811T>A (p.Val604Asp)
n.2202T>A
n.2526T>A
n.2169T>A
19g.11123225T>CCA404094947LDLRc.2450T>C (p.Val817Ala)
c.*261T>C (n.*261T>C)
c.2072T>C (p.Val691Ala)
c.2192T>C (p.Val731Ala)
c.2446T>C
c.1688T>C (p.Val563Ala)
c.2069T>C (p.Val690Ala)
c.1658T>C (p.Val553Ala)
c.1811T>C (p.Val604Ala)
n.2202T>C
n.2526T>C
n.2169T>C
19g.11123225T>GCA404094949LDLRc.2450T>G (p.Val817Gly)
c.*261T>G (n.*261T>G)
c.2072T>G (p.Val691Gly)
c.2192T>G (p.Val731Gly)
c.2446T>G
c.1688T>G (p.Val563Gly)
c.2069T>G (p.Val690Gly)
c.1658T>G (p.Val553Gly)
c.1811T>G (p.Val604Gly)
n.2202T>G
n.2526T>G
n.2169T>G
 dbSNP
19g.11123225T=CA2322777195LDLRc.2450T= (p.Val817=)
c.*261T= (n.*261T=)
c.2072T= (p.Val691=)
c.2192T= (p.Val731=)
c.2446T=
c.1688T= (p.Val563=)
c.2069T= (p.Val690=)
c.1658T= (p.Val553=)
c.1811T= (p.Val604=)
n.2202T=
n.2526T=
n.2169T=
19g.11123227_11123231dupCA2573156039LDLRc.2452_2456dup (p.Thr820AlafsTer5)
c.*263_*267dup (n.*263_*267dup)
c.2074_2078dup (p.Thr694AlafsTer5)
c.2194_2198dup (p.Thr734AlafsTer5)
c.2448_2452dup
c.1690_1694dup (p.Thr566AlafsTer5)
c.2071_2075dup (p.Thr693AlafsTer5)
c.1660_1664dup (p.Thr556AlafsTer5)
c.1813_1817dup (p.Thr607AlafsTer5)
n.2204_2208dup
n.2528_2532dup
n.2171_2175dup
 ClinVar dbSNP
19g.11123225_11123237dupCA2695228317LDLRc.2450_2462dup (p.Val822GlnfsTer?)
c.*261_*273dup (n.*261_*273dup)
c.2072_2084dup (p.Val696GlnfsTer?)
c.2192_2204dup (p.Val736GlnfsTer?)
c.2446_2458dup
c.1688_1700dup (p.Val568GlnfsTer?)
c.2069_2081dup (p.Val695GlnfsTer?)
c.1658_1670dup (p.Val558GlnfsTer?)
c.1811_1823dup (p.Val609GlnfsTer?)
n.2202_2214dup
n.2526_2538dup
n.2169_2181dup
19g.11123226C>ACA505486907LDLRc.2451C>A (p.Val817=)
c.*262C>A (n.*262C>A)
c.2073C>A (p.Val691=)
c.2193C>A (p.Val731=)
c.2447C>A
c.1689C>A (p.Val563=)
c.2070C>A (p.Val690=)
c.1659C>A (p.Val553=)
c.1812C>A (p.Val604=)
n.2203C>A
n.2527C>A
n.2170C>A
19g.11123226C=CA2322777196LDLRc.2451C= (p.Val817=)
c.*262C= (n.*262C=)
c.2073C= (p.Val691=)
c.2193C= (p.Val731=)
c.2447C=
c.1689C= (p.Val563=)
c.2070C= (p.Val690=)
c.1659C= (p.Val553=)
c.1812C= (p.Val604=)
n.2203C=
n.2527C=
n.2170C=
19g.11123226C>GCA505486909LDLRc.2451C>G (p.Val817=)
c.*262C>G (n.*262C>G)
c.2073C>G (p.Val691=)
c.2193C>G (p.Val731=)
c.2447C>G
c.1689C>G (p.Val563=)
c.2070C>G (p.Val690=)
c.1659C>G (p.Val553=)
c.1812C>G (p.Val604=)
n.2203C>G
n.2527C>G
n.2170C>G
19g.11123226C>TCA505486908LDLRc.2451C>T (p.Val817=)
c.*262C>T (n.*262C>T)
c.2073C>T (p.Val691=)
c.2193C>T (p.Val731=)
c.2447C>T
c.1689C>T (p.Val563=)
c.2070C>T (p.Val690=)
c.1659C>T (p.Val553=)
c.1812C>T (p.Val604=)
n.2203C>T
n.2527C>T
n.2170C>T
 dbSNP gnomAD v2 gnomAD v4
19g.11123226dupCA2573156040LDLRc.2451dup (p.Ser818GlnfsTer?)
c.*262dup (n.*262dup)
c.2073dup (p.Ser692GlnfsTer?)
c.2193dup (p.Ser732GlnfsTer?)
c.2447dup
c.1689dup (p.Ser564GlnfsTer?)
c.2070dup (p.Ser691GlnfsTer?)
c.1659dup (p.Ser554GlnfsTer?)
c.1812dup (p.Ser605GlnfsTer?)
n.2203dup
n.2527dup
n.2170dup
 ClinVar dbSNP
19g.11123227A>CCA404094953LDLRc.2452A>C (p.Ser818Arg)
c.*263A>C (n.*263A>C)
c.2074A>C (p.Ser692Arg)
c.2194A>C (p.Ser732Arg)
c.2448A>C
c.1690A>C (p.Ser564Arg)
c.2071A>C (p.Ser691Arg)
c.1660A>C (p.Ser554Arg)
c.1813A>C (p.Ser605Arg)
n.2204A>C
n.2528A>C
n.2171A>C
19g.11123227A>GCA404094956LDLRc.2452A>G (p.Ser818Gly)
c.*263A>G (n.*263A>G)
c.2074A>G (p.Ser692Gly)
c.2194A>G (p.Ser732Gly)
c.2448A>G
c.1690A>G (p.Ser564Gly)
c.2071A>G (p.Ser691Gly)
c.1660A>G (p.Ser554Gly)
c.1813A>G (p.Ser605Gly)
n.2204A>G
n.2528A>G
n.2171A>G
19g.11123227A>TCA404094958LDLRc.2452A>T (p.Ser818Cys)
c.*263A>T (n.*263A>T)
c.2074A>T (p.Ser692Cys)
c.2194A>T (p.Ser732Cys)
c.2448A>T
c.1690A>T (p.Ser564Cys)
c.2071A>T (p.Ser691Cys)
c.1660A>T (p.Ser554Cys)
c.1813A>T (p.Ser605Cys)
n.2204A>T
n.2528A>T
n.2171A>T
19g.11123228G>ACA404094961LDLRc.2453G>A (p.Ser818Asn)
c.*264G>A (n.*264G>A)
c.2075G>A (p.Ser692Asn)
c.2195G>A (p.Ser732Asn)
c.2449G>A
c.1691G>A (p.Ser564Asn)
c.2072G>A (p.Ser691Asn)
c.1661G>A (p.Ser554Asn)
c.1814G>A (p.Ser605Asn)
n.2205G>A
n.2529G>A
n.2172G>A
19g.11123228G>CCA039083LDLRc.2453G>C (p.Ser818Thr)
c.*264G>C (n.*264G>C)
c.2075G>C (p.Ser692Thr)
c.2195G>C (p.Ser732Thr)
c.2449G>C
c.1691G>C (p.Ser564Thr)
c.2072G>C (p.Ser691Thr)
c.1661G>C (p.Ser554Thr)
c.1814G>C (p.Ser605Thr)
n.2205G>C
n.2529G>C
n.2172G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123228G=CA2322777197LDLRc.2453G= (p.Ser818=)
c.*264G= (n.*264G=)
c.2075G= (p.Ser692=)
c.2195G= (p.Ser732=)
c.2449G=
c.1691G= (p.Ser564=)
c.2072G= (p.Ser691=)
c.1661G= (p.Ser554=)
c.1814G= (p.Ser605=)
n.2205G=
n.2529G=
n.2172G=
19g.11123228G>TCA404094966LDLRc.2453G>T (p.Ser818Ile)
c.*264G>T (n.*264G>T)
c.2075G>T (p.Ser692Ile)
c.2195G>T (p.Ser732Ile)
c.2449G>T
c.1691G>T (p.Ser564Ile)
c.2072G>T (p.Ser691Ile)
c.1661G>T (p.Ser554Ile)
c.1814G>T (p.Ser605Ile)
n.2205G>T
n.2529G>T
n.2172G>T
 gnomAD v4
19g.11123229C>ACA404094969LDLRc.2454C>A (p.Ser818Arg)
c.*265C>A (n.*265C>A)
c.2076C>A (p.Ser692Arg)
c.2196C>A (p.Ser732Arg)
c.2450C>A
c.1692C>A (p.Ser564Arg)
c.2073C>A (p.Ser691Arg)
c.1662C>A (p.Ser554Arg)
c.1815C>A (p.Ser605Arg)
n.2206C>A
n.2530C>A
n.2173C>A
19g.11123229C=CA2322777198LDLRc.2454C= (p.Ser818=)
c.*265C= (n.*265C=)
c.2076C= (p.Ser692=)
c.2196C= (p.Ser732=)
c.2450C=
c.1692C= (p.Ser564=)
c.2073C= (p.Ser691=)
c.1662C= (p.Ser554=)
c.1815C= (p.Ser605=)
n.2206C=
n.2530C=
n.2173C=
19g.11123229C>GCA404094971LDLRc.2454C>G (p.Ser818Arg)
c.*265C>G (n.*265C>G)
c.2076C>G (p.Ser692Arg)
c.2196C>G (p.Ser732Arg)
c.2450C>G
c.1692C>G (p.Ser564Arg)
c.2073C>G (p.Ser691Arg)
c.1662C>G (p.Ser554Arg)
c.1815C>G (p.Ser605Arg)
n.2206C>G
n.2530C>G
n.2173C>G
 gnomAD v4
19g.11123229C>TCA505486911LDLRc.2454C>T (p.Ser818=)
c.*265C>T (n.*265C>T)
c.2076C>T (p.Ser692=)
c.2196C>T (p.Ser732=)
c.2450C>T
c.1692C>T (p.Ser564=)
c.2073C>T (p.Ser691=)
c.1662C>T (p.Ser554=)
c.1815C>T (p.Ser605=)
n.2206C>T
n.2530C>T
n.2173C>T
 dbSNP gnomAD v2 gnomAD v4
19g.11123230T>ACA404094974LDLRc.2455T>A (p.Ser819Thr)
c.*266T>A (n.*266T>A)
c.2077T>A (p.Ser693Thr)
c.2197T>A (p.Ser733Thr)
c.2451T>A
c.1693T>A (p.Ser565Thr)
c.2074T>A (p.Ser692Thr)
c.1663T>A (p.Ser555Thr)
c.1816T>A (p.Ser606Thr)
n.2207T>A
n.2531T>A
n.2174T>A
19g.11123230T>CCA039090LDLRc.2455T>C (p.Ser819Pro)
c.*266T>C (n.*266T>C)
c.2077T>C (p.Ser693Pro)
c.2197T>C (p.Ser733Pro)
c.2451T>C
c.1693T>C (p.Ser565Pro)
c.2074T>C (p.Ser692Pro)
c.1663T>C (p.Ser555Pro)
c.1816T>C (p.Ser606Pro)
n.2207T>C
n.2531T>C
n.2174T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123230T>GCA404094980LDLRc.2455T>G (p.Ser819Ala)
c.*266T>G (n.*266T>G)
c.2077T>G (p.Ser693Ala)
c.2197T>G (p.Ser733Ala)
c.2451T>G
c.1693T>G (p.Ser565Ala)
c.2074T>G (p.Ser692Ala)
c.1663T>G (p.Ser555Ala)
c.1816T>G (p.Ser606Ala)
n.2207T>G
n.2531T>G
n.2174T>G
19g.11123230T=CA2322777199LDLRc.2455T= (p.Ser819=)
c.*266T= (n.*266T=)
c.2077T= (p.Ser693=)
c.2197T= (p.Ser733=)
c.2451T=
c.1693T= (p.Ser565=)
c.2074T= (p.Ser692=)
c.1663T= (p.Ser555=)
c.1816T= (p.Ser606=)
n.2207T=
n.2531T=
n.2174T=
19g.11123231C>ACA404094984LDLRc.2456C>A (p.Ser819Tyr)
c.*267C>A (n.*267C>A)
c.2078C>A (p.Ser693Tyr)
c.2198C>A (p.Ser733Tyr)
c.2452C>A
c.1694C>A (p.Ser565Tyr)
c.2075C>A (p.Ser692Tyr)
c.1664C>A (p.Ser555Tyr)
c.1817C>A (p.Ser606Tyr)
n.2208C>A
n.2532C>A
n.2175C>A
19g.11123231C=CA2322777200LDLRc.2456C= (p.Ser819=)
c.*267C= (n.*267C=)
c.2078C= (p.Ser693=)
c.2198C= (p.Ser733=)
c.2452C=
c.1694C= (p.Ser565=)
c.2075C= (p.Ser692=)
c.1664C= (p.Ser555=)
c.1817C= (p.Ser606=)
n.2208C=
n.2532C=
n.2175C=
19g.11123231C>GCA404094985LDLRc.2456C>G (p.Ser819Cys)
c.*267C>G (n.*267C>G)
c.2078C>G (p.Ser693Cys)
c.2198C>G (p.Ser733Cys)
c.2452C>G
c.1694C>G (p.Ser565Cys)
c.2075C>G (p.Ser692Cys)
c.1664C>G (p.Ser555Cys)
c.1817C>G (p.Ser606Cys)
n.2208C>G
n.2532C>G
n.2175C>G
 dbSNP gnomAD v2 gnomAD v4
19g.11123231C>TCA10585805LDLRc.2456C>T (p.Ser819Phe)
c.*267C>T (n.*267C>T)
c.2078C>T (p.Ser693Phe)
c.2198C>T (p.Ser733Phe)
c.2452C>T
c.1694C>T (p.Ser565Phe)
c.2075C>T (p.Ser692Phe)
c.1664C>T (p.Ser555Phe)
c.1817C>T (p.Ser606Phe)
n.2208C>T
n.2532C>T
n.2175C>T
 ClinVar dbSNP
19g.11123231_11123233delinsCCACA2322777201LDLRc.2456_2458delinsCCA (p.Ser819=)
c.*267_*269delinsCCA (n.*267_*269delinsCCA)
c.2078_2080delinsCCA (p.Ser693=)
c.2198_2200delinsCCA (p.Ser733=)
c.2452_2454delinsCCA
c.1694_1696delinsCCA (p.Ser565=)
c.2075_2077delinsCCA (p.Ser692=)
c.1664_1666delinsCCA (p.Ser555=)
c.1817_1819delinsCCA (p.Ser606=)
n.2208_2210delinsCCA
n.2532_2534delinsCCA
n.2175_2177delinsCCA
19g.11123232C>ACA505486913LDLRc.2457C>A (p.Ser819=)
c.*268C>A (n.*268C>A)
c.2079C>A (p.Ser693=)
c.2199C>A (p.Ser733=)
c.2453C>A
c.1695C>A (p.Ser565=)
c.2076C>A (p.Ser692=)
c.1665C>A (p.Ser555=)
c.1818C>A (p.Ser606=)
n.2209C>A
n.2533C>A
n.2176C>A
19g.11123232C>GCA505486914LDLRc.2457C>G (p.Ser819=)
c.*268C>G (n.*268C>G)
c.2079C>G (p.Ser693=)
c.2199C>G (p.Ser733=)
c.2453C>G
c.1695C>G (p.Ser565=)
c.2076C>G (p.Ser692=)
c.1665C>G (p.Ser555=)
c.1818C>G (p.Ser606=)
n.2209C>G
n.2533C>G
n.2176C>G
19g.11123232C>TCA505486915LDLRc.2457C>T (p.Ser819=)
c.*268C>T (n.*268C>T)
c.2079C>T (p.Ser693=)
c.2199C>T (p.Ser733=)
c.2453C>T
c.1695C>T (p.Ser565=)
c.2076C>T (p.Ser692=)
c.1665C>T (p.Ser555=)
c.1818C>T (p.Ser606=)
n.2209C>T
n.2533C>T
n.2176C>T
19g.11123234_11123235delCA10585806LDLRc.2459_2460del (p.Thr820SerfsTer?)
c.*270_*271del (n.*270_*271del)
c.2081_2082del (p.Thr694SerfsTer?)
c.2201_2202del (p.Thr734SerfsTer?)
c.2455_2456del
c.1697_1698del (p.Thr566SerfsTer?)
c.2078_2079del (p.Thr693SerfsTer?)
c.1667_1668del (p.Thr556SerfsTer?)
c.1820_1821del (p.Thr607SerfsTer?)
n.2211_2212del
n.2535_2536del
n.2178_2179del
 ClinVar dbSNP
19g.11123233A=CA2322777202LDLRc.2458A= (p.Thr820=)
c.*269A= (n.*269A=)
c.2080A= (p.Thr694=)
c.2200A= (p.Thr734=)
c.2454A=
c.1696A= (p.Thr566=)
c.2077A= (p.Thr693=)
c.1666A= (p.Thr556=)
c.1819A= (p.Thr607=)
n.2210A=
n.2534A=
n.2177A=
19g.11123233A>CCA039105LDLRc.2458A>C (p.Thr820Pro)
c.*269A>C (n.*269A>C)
c.2080A>C (p.Thr694Pro)
c.2200A>C (p.Thr734Pro)
c.2454A>C
c.1696A>C (p.Thr566Pro)
c.2077A>C (p.Thr693Pro)
c.1666A>C (p.Thr556Pro)
c.1819A>C (p.Thr607Pro)
n.2210A>C
n.2534A>C
n.2177A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123233A>GCA404094992LDLRc.2458A>G (p.Thr820Ala)
c.*269A>G (n.*269A>G)
c.2080A>G (p.Thr694Ala)
c.2200A>G (p.Thr734Ala)
c.2454A>G
c.1696A>G (p.Thr566Ala)
c.2077A>G (p.Thr693Ala)
c.1666A>G (p.Thr556Ala)
c.1819A>G (p.Thr607Ala)
n.2210A>G
n.2534A>G
n.2177A>G
 gnomAD v4
19g.11123233A>TCA404094996LDLRc.2458A>T (p.Thr820Ser)
c.*269A>T (n.*269A>T)
c.2080A>T (p.Thr694Ser)
c.2200A>T (p.Thr734Ser)
c.2454A>T
c.1696A>T (p.Thr566Ser)
c.2077A>T (p.Thr693Ser)
c.1666A>T (p.Thr556Ser)
c.1819A>T (p.Thr607Ser)
n.2210A>T
n.2534A>T
n.2177A>T
19g.11123234C>ACA404095000LDLRc.2459C>A (p.Thr820Lys)
c.*270C>A (n.*270C>A)
c.2081C>A (p.Thr694Lys)
c.2201C>A (p.Thr734Lys)
c.2455C>A
c.1697C>A (p.Thr566Lys)
c.2078C>A (p.Thr693Lys)
c.1667C>A (p.Thr556Lys)
c.1820C>A (p.Thr607Lys)
n.2211C>A
n.2535C>A
n.2178C>A
19g.11123234C=CA2322777203LDLRc.2459C= (p.Thr820=)
c.*270C= (n.*270C=)
c.2081C= (p.Thr694=)
c.2201C= (p.Thr734=)
c.2455C=
c.1697C= (p.Thr566=)
c.2078C= (p.Thr693=)
c.1667C= (p.Thr556=)
c.1820C= (p.Thr607=)
n.2211C=
n.2535C=
n.2178C=
19g.11123234C>GCA404095002LDLRc.2459C>G (p.Thr820Arg)
c.*270C>G (n.*270C>G)
c.2081C>G (p.Thr694Arg)
c.2201C>G (p.Thr734Arg)
c.2455C>G
c.1697C>G (p.Thr566Arg)
c.2078C>G (p.Thr693Arg)
c.1667C>G (p.Thr556Arg)
c.1820C>G (p.Thr607Arg)
n.2211C>G
n.2535C>G
n.2178C>G
19g.11123234C>TCA039114LDLRc.2459C>T (p.Thr820Ile)
c.*270C>T (n.*270C>T)
c.2081C>T (p.Thr694Ile)
c.2201C>T (p.Thr734Ile)
c.2455C>T
c.1697C>T (p.Thr566Ile)
c.2078C>T (p.Thr693Ile)
c.1667C>T (p.Thr556Ile)
c.1820C>T (p.Thr607Ile)
n.2211C>T
n.2535C>T
n.2178C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123235A>CCA505486919LDLRc.2460A>C (p.Thr820=)
c.*271A>C (n.*271A>C)
c.2082A>C (p.Thr694=)
c.2202A>C (p.Thr734=)
c.2456A>C
c.1698A>C (p.Thr566=)
c.2079A>C (p.Thr693=)
c.1668A>C (p.Thr556=)
c.1821A>C (p.Thr607=)
n.2212A>C
n.2536A>C
n.2179A>C
19g.11123235A>GCA505486920LDLRc.2460A>G (p.Thr820=)
c.*271A>G (n.*271A>G)
c.2082A>G (p.Thr694=)
c.2202A>G (p.Thr734=)
c.2456A>G
c.1698A>G (p.Thr566=)
c.2079A>G (p.Thr693=)
c.1668A>G (p.Thr556=)
c.1821A>G (p.Thr607=)
n.2212A>G
n.2536A>G
n.2179A>G
19g.11123235A>TCA505486921LDLRc.2460A>T (p.Thr820=)
c.*271A>T (n.*271A>T)
c.2082A>T (p.Thr694=)
c.2202A>T (p.Thr734=)
c.2456A>T
c.1698A>T (p.Thr566=)
c.2079A>T (p.Thr693=)
c.1668A>T (p.Thr556=)
c.1821A>T (p.Thr607=)
n.2212A>T
n.2536A>T
n.2179A>T
19g.11123236G>ACA404095011LDLRc.2461G>A (p.Ala821Thr)
c.*272G>A (n.*272G>A)
c.2083G>A (p.Ala695Thr)
c.2203G>A (p.Ala735Thr)
c.2457G>A
c.1699G>A (p.Ala567Thr)
c.2080G>A (p.Ala694Thr)
c.1669G>A (p.Ala557Thr)
c.1822G>A (p.Ala608Thr)
n.2213G>A
n.2537G>A
n.2180G>A
19g.11123236G>CCA404095007LDLRc.2461G>C (p.Ala821Pro)
c.*272G>C (n.*272G>C)
c.2083G>C (p.Ala695Pro)
c.2203G>C (p.Ala735Pro)
c.2457G>C
c.1699G>C (p.Ala567Pro)
c.2080G>C (p.Ala694Pro)
c.1669G>C (p.Ala557Pro)
c.1822G>C (p.Ala608Pro)
n.2213G>C
n.2537G>C
n.2180G>C
19g.11123236G>TCA404095010LDLRc.2461G>T (p.Ala821Ser)
c.*272G>T (n.*272G>T)
c.2083G>T (p.Ala695Ser)
c.2203G>T (p.Ala735Ser)
c.2457G>T
c.1699G>T (p.Ala567Ser)
c.2080G>T (p.Ala694Ser)
c.1669G>T (p.Ala557Ser)
c.1822G>T (p.Ala608Ser)
n.2213G>T
n.2537G>T
n.2180G>T
19g.11123237C>ACA404095015LDLRc.2462C>A (p.Ala821Asp)
c.*273C>A (n.*273C>A)
c.2084C>A (p.Ala695Asp)
c.2204C>A (p.Ala735Asp)
c.2458C>A
c.1700C>A (p.Ala567Asp)
c.2081C>A (p.Ala694Asp)
c.1670C>A (p.Ala557Asp)
c.1823C>A (p.Ala608Asp)
n.2214C>A
n.2538C>A
n.2181C>A
19g.11123237C>GCA404095018LDLRc.2462C>G (p.Ala821Gly)
c.*273C>G (n.*273C>G)
c.2084C>G (p.Ala695Gly)
c.2204C>G (p.Ala735Gly)
c.2458C>G
c.1700C>G (p.Ala567Gly)
c.2081C>G (p.Ala694Gly)
c.1670C>G (p.Ala557Gly)
c.1823C>G (p.Ala608Gly)
n.2214C>G
n.2538C>G
n.2181C>G
19g.11123237C>TCA404095029LDLRc.2462C>T (p.Ala821Val)
c.*273C>T (n.*273C>T)
c.2084C>T (p.Ala695Val)
c.2204C>T (p.Ala735Val)
c.2458C>T
c.1700C>T (p.Ala567Val)
c.2081C>T (p.Ala694Val)
c.1670C>T (p.Ala557Val)
c.1823C>T (p.Ala608Val)
n.2214C>T
n.2538C>T
n.2181C>T
19g.11123238C>ACA505486923LDLRc.2463C>A (p.Ala821=)
c.*274C>A (n.*274C>A)
c.2085C>A (p.Ala695=)
c.2205C>A (p.Ala735=)
c.2459C>A
c.1701C>A (p.Ala567=)
c.2082C>A (p.Ala694=)
c.1671C>A (p.Ala557=)
c.1824C>A (p.Ala608=)
n.2215C>A
n.2539C>A
n.2182C>A
19g.11123238C=CA2322777204LDLRc.2463C= (p.Ala821=)
c.*274C= (n.*274C=)
c.2085C= (p.Ala695=)
c.2205C= (p.Ala735=)
c.2459C=
c.1701C= (p.Ala567=)
c.2082C= (p.Ala694=)
c.1671C= (p.Ala557=)
c.1824C= (p.Ala608=)
n.2215C=
n.2539C=
n.2182C=
19g.11123238C>GCA505486924LDLRc.2463C>G (p.Ala821=)
c.*274C>G (n.*274C>G)
c.2085C>G (p.Ala695=)
c.2205C>G (p.Ala735=)
c.2459C>G
c.1701C>G (p.Ala567=)
c.2082C>G (p.Ala694=)
c.1671C>G (p.Ala557=)
c.1824C>G (p.Ala608=)
n.2215C>G
n.2539C>G
n.2182C>G
19g.11123238C>TCA039120LDLRc.2463C>T (p.Ala821=)
c.*274C>T (n.*274C>T)
c.2085C>T (p.Ala695=)
c.2205C>T (p.Ala735=)
c.2459C>T
c.1701C>T (p.Ala567=)
c.2082C>T (p.Ala694=)
c.1671C>T (p.Ala557=)
c.1824C>T (p.Ala608=)
n.2215C>T
n.2539C>T
n.2182C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123238_11123239insTTCA2497030102LDLRc.2463_2464insTT (p.Val822LeufsTer2)
c.*274_*275insTT (n.*274_*275insTT)
c.2085_2086insTT (p.Val696LeufsTer2)
c.2205_2206insTT (p.Val736LeufsTer2)
c.2459_2460insTT
c.1701_1702insTT (p.Val568LeufsTer2)
c.2082_2083insTT (p.Val695LeufsTer2)
c.1671_1672insTT (p.Val558LeufsTer2)
c.1824_1825insTT (p.Val609LeufsTer2)
n.2215_2216insTT
n.2539_2540insTT
n.2182_2183insTT
19g.11123239G>ACA039136LDLRc.2464G>A (p.Val822Ile)
c.*275G>A (n.*275G>A)
c.2086G>A (p.Val696Ile)
c.2206G>A (p.Val736Ile)
c.2460G>A
c.1702G>A (p.Val568Ile)
c.2083G>A (p.Val695Ile)
c.1672G>A (p.Val558Ile)
c.1825G>A (p.Val609Ile)
n.2216G>A
n.2540G>A
n.2183G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123239G>CCA404095033LDLRc.2464G>C (p.Val822Leu)
c.*275G>C (n.*275G>C)
c.2086G>C (p.Val696Leu)
c.2206G>C (p.Val736Leu)
c.2460G>C
c.1702G>C (p.Val568Leu)
c.2083G>C (p.Val695Leu)
c.1672G>C (p.Val558Leu)
c.1825G>C (p.Val609Leu)
n.2216G>C
n.2540G>C
n.2183G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11123239G=CA2322777205LDLRc.2464G= (p.Val822=)
c.*275G= (n.*275G=)
c.2086G= (p.Val696=)
c.2206G= (p.Val736=)
c.2460G=
c.1702G= (p.Val568=)
c.2083G= (p.Val695=)
c.1672G= (p.Val558=)
c.1825G= (p.Val609=)
n.2216G=
n.2540G=
n.2183G=
19g.11123239G>TCA404095036LDLRc.2464G>T (p.Val822Leu)
c.*275G>T (n.*275G>T)
c.2086G>T (p.Val696Leu)
c.2206G>T (p.Val736Leu)
c.2460G>T
c.1702G>T (p.Val568Leu)
c.2083G>T (p.Val695Leu)
c.1672G>T (p.Val558Leu)
c.1825G>T (p.Val609Leu)
n.2216G>T
n.2540G>T
n.2183G>T
19g.11123240T>ACA404095037LDLRc.2465T>A (p.Val822Glu)
c.*276T>A (n.*276T>A)
c.2087T>A (p.Val696Glu)
c.2207T>A (p.Val736Glu)
c.2461T>A
c.1703T>A (p.Val568Glu)
c.2084T>A (p.Val695Glu)
c.1673T>A (p.Val558Glu)
c.1826T>A (p.Val609Glu)
n.2217T>A
n.2541T>A
n.2184T>A
19g.11123240T>CCA404095040LDLRc.2465T>C (p.Val822Ala)
c.*276T>C (n.*276T>C)
c.2087T>C (p.Val696Ala)
c.2207T>C (p.Val736Ala)
c.2461T>C
c.1703T>C (p.Val568Ala)
c.2084T>C (p.Val695Ala)
c.1673T>C (p.Val558Ala)
c.1826T>C (p.Val609Ala)
n.2217T>C
n.2541T>C
n.2184T>C
19g.11123240T>GCA404095043LDLRc.2465T>G (p.Val822Gly)
c.*276T>G (n.*276T>G)
c.2087T>G (p.Val696Gly)
c.2207T>G (p.Val736Gly)
c.2461T>G
c.1703T>G (p.Val568Gly)
c.2084T>G (p.Val695Gly)
c.1673T>G (p.Val558Gly)
c.1826T>G (p.Val609Gly)
n.2217T>G
n.2541T>G
n.2184T>G
 ClinVar
19g.11123240dupCA10585807LDLRc.2465dup (p.Arg823LysfsTer?)
c.*276dup (n.*276dup)
c.2087dup (p.Arg697LysfsTer?)
c.2207dup (p.Arg737LysfsTer?)
c.2461dup
c.1703dup (p.Arg569LysfsTer?)
c.2084dup (p.Arg696LysfsTer?)
c.1673dup (p.Arg559LysfsTer?)
c.1826dup (p.Arg610LysfsTer?)
n.2217dup
n.2541dup
n.2184dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11123241A=CA2322777206LDLRc.2466A= (p.Val822=)
c.*277A= (n.*277A=)
c.2088A= (p.Val696=)
c.2208A= (p.Val736=)
c.2462A=
c.1704A= (p.Val568=)
c.2085A= (p.Val695=)
c.1674A= (p.Val558=)
c.1827A= (p.Val609=)
n.2218A=
n.2542A=
n.2185A=
19g.11123241A>CCA505486925LDLRc.2466A>C (p.Val822=)
c.*277A>C (n.*277A>C)
c.2088A>C (p.Val696=)
c.2208A>C (p.Val736=)
c.2462A>C
c.1704A>C (p.Val568=)
c.2085A>C (p.Val695=)
c.1674A>C (p.Val558=)
c.1827A>C (p.Val609=)
n.2218A>C
n.2542A>C
n.2185A>C
19g.11123241A>GCA505486927LDLRc.2466A>G (p.Val822=)
c.*277A>G (n.*277A>G)
c.2088A>G (p.Val696=)
c.2208A>G (p.Val736=)
c.2462A>G
c.1704A>G (p.Val568=)
c.2085A>G (p.Val695=)
c.1674A>G (p.Val558=)
c.1827A>G (p.Val609=)
n.2218A>G
n.2542A>G
n.2185A>G
19g.11123241A>TCA505486928LDLRc.2466A>T (p.Val822=)
c.*277A>T (n.*277A>T)
c.2088A>T (p.Val696=)
c.2208A>T (p.Val736=)
c.2462A>T
c.1704A>T (p.Val568=)
c.2085A>T (p.Val695=)
c.1674A>T (p.Val558=)
c.1827A>T (p.Val609=)
n.2218A>T
n.2542A>T
n.2185A>T
 ClinVar dbSNP
19g.11123242A=CA2322777207LDLRc.2467A= (p.Arg823=)
c.*278A= (n.*278A=)
c.2089A= (p.Arg697=)
c.2209A= (p.Arg737=)
c.2463A=
c.1705A= (p.Arg569=)
c.2086A= (p.Arg696=)
c.1675A= (p.Arg559=)
c.1828A= (p.Arg610=)
n.2219A=
n.2543A=
n.2186A=
19g.11123242A>CCA505486929LDLRc.2467A>C (p.Arg823=)
c.*278A>C (n.*278A>C)
c.2089A>C (p.Arg697=)
c.2209A>C (p.Arg737=)
c.2463A>C
c.1705A>C (p.Arg569=)
c.2086A>C (p.Arg696=)
c.1675A>C (p.Arg559=)
c.1828A>C (p.Arg610=)
n.2219A>C
n.2543A>C
n.2186A>C
19g.11123242A>GCA10585808LDLRc.2467A>G (p.Arg823Gly)
c.*278A>G (n.*278A>G)
c.2089A>G (p.Arg697Gly)
c.2209A>G (p.Arg737Gly)
c.2463A>G
c.1705A>G (p.Arg569Gly)
c.2086A>G (p.Arg696Gly)
c.1675A>G (p.Arg559Gly)
c.1828A>G (p.Arg610Gly)
n.2219A>G
n.2543A>G
n.2186A>G
 ClinVar dbSNP
19g.11123242A>TCA404095047LDLRc.2467A>T (p.Arg823Trp)
c.*278A>T (n.*278A>T)
c.2089A>T (p.Arg697Trp)
c.2209A>T (p.Arg737Trp)
c.2463A>T
c.1705A>T (p.Arg569Trp)
c.2086A>T (p.Arg696Trp)
c.1675A>T (p.Arg559Trp)
c.1828A>T (p.Arg610Trp)
n.2219A>T
n.2543A>T
n.2186A>T
19g.11123243G>ACA404095054LDLRc.2468G>A (p.Arg823Lys)
c.*279G>A (n.*279G>A)
c.2090G>A (p.Arg697Lys)
c.2210G>A (p.Arg737Lys)
c.2464G>A
c.1706G>A (p.Arg569Lys)
c.2087G>A (p.Arg696Lys)
c.1676G>A (p.Arg559Lys)
c.1829G>A (p.Arg610Lys)
n.2220G>A
n.2544G>A
n.2187G>A
19g.11123243G>CCA404095051LDLRc.2468G>C (p.Arg823Thr)
c.*279G>C (n.*279G>C)
c.2090G>C (p.Arg697Thr)
c.2210G>C (p.Arg737Thr)
c.2464G>C
c.1706G>C (p.Arg569Thr)
c.2087G>C (p.Arg696Thr)
c.1676G>C (p.Arg559Thr)
c.1829G>C (p.Arg610Thr)
n.2220G>C
n.2544G>C
n.2187G>C
19g.11123243G=CA2322777208LDLRc.2468G= (p.Arg823=)
c.*279G= (n.*279G=)
c.2090G= (p.Arg697=)
c.2210G= (p.Arg737=)
c.2464G=
c.1706G= (p.Arg569=)
c.2087G= (p.Arg696=)
c.1676G= (p.Arg559=)
c.1829G= (p.Arg610=)
n.2220G=
n.2544G=
n.2187G=
19g.11123243G>TCA404095050LDLRc.2468G>T (p.Arg823Met)
c.*279G>T (n.*279G>T)
c.2090G>T (p.Arg697Met)
c.2210G>T (p.Arg737Met)
c.2464G>T
c.1706G>T (p.Arg569Met)
c.2087G>T (p.Arg696Met)
c.1676G>T (p.Arg559Met)
c.1829G>T (p.Arg610Met)
n.2220G>T
n.2544G>T
n.2187G>T
 dbSNP gnomAD v2 gnomAD v4
19g.11123244G>ACA505486931LDLRc.2469G>A (p.Arg823=)
c.*280G>A (n.*280G>A)
c.2091G>A (p.Arg697=)
c.2211G>A (p.Arg737=)
c.2465G>A
c.1707G>A (p.Arg569=)
c.2088G>A (p.Arg696=)
c.1677G>A (p.Arg559=)
c.1830G>A (p.Arg610=)
n.2221G>A
n.2545G>A
n.2188G>A
 ClinVar dbSNP
19g.11123244G>CCA404095058LDLRc.2469G>C (p.Arg823Ser)
c.*280G>C (n.*280G>C)
c.2091G>C (p.Arg697Ser)
c.2211G>C (p.Arg737Ser)
c.2465G>C
c.1707G>C (p.Arg569Ser)
c.2088G>C (p.Arg696Ser)
c.1677G>C (p.Arg559Ser)
c.1830G>C (p.Arg610Ser)
n.2221G>C
n.2545G>C
n.2188G>C
19g.11123244G=CA2322777209LDLRc.2469G= (p.Arg823=)
c.*280G= (n.*280G=)
c.2091G= (p.Arg697=)
c.2211G= (p.Arg737=)
c.2465G=
c.1707G= (p.Arg569=)
c.2088G= (p.Arg696=)
c.1677G= (p.Arg559=)
c.1830G= (p.Arg610=)
n.2221G=
n.2545G=
n.2188G=
19g.11123244G>TCA404095060LDLRc.2469G>T (p.Arg823Ser)
c.*280G>T (n.*280G>T)
c.2091G>T (p.Arg697Ser)
c.2211G>T (p.Arg737Ser)
c.2465G>T
c.1707G>T (p.Arg569Ser)
c.2088G>T (p.Arg696Ser)
c.1677G>T (p.Arg559Ser)
c.1830G>T (p.Arg610Ser)
n.2221G>T
n.2545G>T
n.2188G>T
19g.11123245A>CCA404095064LDLRc.2470A>C (p.Thr824Pro)
c.*281A>C (n.*281A>C)
c.2092A>C (p.Thr698Pro)
c.2212A>C (p.Thr738Pro)
c.2466A>C
c.1708A>C (p.Thr570Pro)
c.2089A>C (p.Thr697Pro)
c.1678A>C (p.Thr560Pro)
c.1831A>C (p.Thr611Pro)
n.2222A>C
n.2546A>C
n.2189A>C
19g.11123245A>GCA404095068LDLRc.2470A>G (p.Thr824Ala)
c.*281A>G (n.*281A>G)
c.2092A>G (p.Thr698Ala)
c.2212A>G (p.Thr738Ala)
c.2466A>G
c.1708A>G (p.Thr570Ala)
c.2089A>G (p.Thr697Ala)
c.1678A>G (p.Thr560Ala)
c.1831A>G (p.Thr611Ala)
n.2222A>G
n.2546A>G
n.2189A>G
19g.11123245A>TCA404095066LDLRc.2470A>T (p.Thr824Ser)
c.*281A>T (n.*281A>T)
c.2092A>T (p.Thr698Ser)
c.2212A>T (p.Thr738Ser)
c.2466A>T
c.1708A>T (p.Thr570Ser)
c.2089A>T (p.Thr697Ser)
c.1678A>T (p.Thr560Ser)
c.1831A>T (p.Thr611Ser)
n.2222A>T
n.2546A>T
n.2189A>T
 gnomAD v4
19g.11123246C>ACA404095070LDLRc.2471C>A (p.Thr824Lys)
c.*282C>A (n.*282C>A)
c.2093C>A (p.Thr698Lys)
c.2213C>A (p.Thr738Lys)
c.2467C>A
c.1709C>A (p.Thr570Lys)
c.2090C>A (p.Thr697Lys)
c.1679C>A (p.Thr560Lys)
c.1832C>A (p.Thr611Lys)
n.2223C>A
n.2547C>A
n.2190C>A
19g.11123246C=CA2322777210LDLRc.2471C= (p.Thr824=)
c.*282C= (n.*282C=)
c.2093C= (p.Thr698=)
c.2213C= (p.Thr738=)
c.2467C=
c.1709C= (p.Thr570=)
c.2090C= (p.Thr697=)
c.1679C= (p.Thr560=)
c.1832C= (p.Thr611=)
n.2223C=
n.2547C=
n.2190C=
19g.11123246C>GCA404095072LDLRc.2471C>G (p.Thr824Arg)
c.*282C>G (n.*282C>G)
c.2093C>G (p.Thr698Arg)
c.2213C>G (p.Thr738Arg)
c.2467C>G
c.1709C>G (p.Thr570Arg)
c.2090C>G (p.Thr697Arg)
c.1679C>G (p.Thr560Arg)
c.1832C>G (p.Thr611Arg)
n.2223C>G
n.2547C>G
n.2190C>G
19g.11123246C>TCA404095075LDLRc.2471C>T (p.Thr824Ile)
c.*282C>T (n.*282C>T)
c.2093C>T (p.Thr698Ile)
c.2213C>T (p.Thr738Ile)
c.2467C>T
c.1709C>T (p.Thr570Ile)
c.2090C>T (p.Thr697Ile)
c.1679C>T (p.Thr560Ile)
c.1832C>T (p.Thr611Ile)
n.2223C>T
n.2547C>T
n.2190C>T
 dbSNP gnomAD v3 gnomAD v4
19g.11123247delCA1139768693LDLRc.2472del (p.Gln825SerfsTer26)
c.*283del (n.*283del)
c.2094del (p.Gln699SerfsTer26)
c.2214del (p.Gln739SerfsTer26)
c.2468del
c.1710del (p.Gln571SerfsTer26)
c.2091del (p.Gln698SerfsTer26)
c.1680del (p.Gln561SerfsTer26)
c.1833del (p.Gln612SerfsTer26)
n.2224del
n.2548del
n.2191del
19g.11123247A=CA2322777211LDLRc.2472A= (p.Thr824=)
c.*283A= (n.*283A=)
c.2094A= (p.Thr698=)
c.2214A= (p.Thr738=)
c.2468A=
c.1710A= (p.Thr570=)
c.2091A= (p.Thr697=)
c.1680A= (p.Thr560=)
c.1833A= (p.Thr611=)
n.2224A=
n.2548A=
n.2191A=
19g.11123247A>CCA505486937LDLRc.2472A>C (p.Thr824=)
c.*283A>C (n.*283A>C)
c.2094A>C (p.Thr698=)
c.2214A>C (p.Thr738=)
c.2468A>C
c.1710A>C (p.Thr570=)
c.2091A>C (p.Thr697=)
c.1680A>C (p.Thr560=)
c.1833A>C (p.Thr611=)
n.2224A>C
n.2548A>C
n.2191A>C
 dbSNP gnomAD v4
19g.11123247A>GCA505486938LDLRc.2472A>G (p.Thr824=)
c.*283A>G (n.*283A>G)
c.2094A>G (p.Thr698=)
c.2214A>G (p.Thr738=)
c.2468A>G
c.1710A>G (p.Thr570=)
c.2091A>G (p.Thr697=)
c.1680A>G (p.Thr560=)
c.1833A>G (p.Thr611=)
n.2224A>G
n.2548A>G
n.2191A>G
19g.11123247A>TCA505486940LDLRc.2472A>T (p.Thr824=)
c.*283A>T (n.*283A>T)
c.2094A>T (p.Thr698=)
c.2214A>T (p.Thr738=)
c.2468A>T
c.1710A>T (p.Thr570=)
c.2091A>T (p.Thr697=)
c.1680A>T (p.Thr560=)
c.1833A>T (p.Thr611=)
n.2224A>T
n.2548A>T
n.2191A>T
19g.11123248C>ACA039143LDLRc.2473C>A (p.Gln825Lys)
c.*284C>A (n.*284C>A)
c.2095C>A (p.Gln699Lys)
c.2215C>A (p.Gln739Lys)
c.2469C>A
c.1711C>A (p.Gln571Lys)
c.2092C>A (p.Gln698Lys)
c.1681C>A (p.Gln561Lys)
c.1834C>A (p.Gln612Lys)
n.2225C>A
n.2549C>A
n.2192C>A
 dbSNP ExAC gnomAD v2
19g.11123248C=CA2322777212LDLRc.2473C= (p.Gln825=)
c.*284C= (n.*284C=)
c.2095C= (p.Gln699=)
c.2215C= (p.Gln739=)
c.2469C=
c.1711C= (p.Gln571=)
c.2092C= (p.Gln698=)
c.1681C= (p.Gln561=)
c.1834C= (p.Gln612=)
n.2225C=
n.2549C=
n.2192C=
19g.11123248C>GCA404095080LDLRc.2473C>G (p.Gln825Glu)
c.*284C>G (n.*284C>G)
c.2095C>G (p.Gln699Glu)
c.2215C>G (p.Gln739Glu)
c.2469C>G
c.1711C>G (p.Gln571Glu)
c.2092C>G (p.Gln698Glu)
c.1681C>G (p.Gln561Glu)
c.1834C>G (p.Gln612Glu)
n.2225C>G
n.2549C>G
n.2192C>G
 dbSNP gnomAD v3 gnomAD v4
19g.11123248C>TCA10585809LDLRc.2473C>T (p.Gln825Ter)
c.*284C>T (n.*284C>T)
c.2095C>T (p.Gln699Ter)
c.2215C>T (p.Gln739Ter)
c.2469C>T
c.1711C>T (p.Gln571Ter)
c.2092C>T (p.Gln698Ter)
c.1681C>T (p.Gln561Ter)
c.1834C>T (p.Gln612Ter)
n.2225C>T
n.2549C>T
n.2192C>T
 ClinVar dbSNP
19g.11123249A>CCA404095092LDLRc.2474A>C (p.Gln825Pro)
c.*285A>C (n.*285A>C)
c.2096A>C (p.Gln699Pro)
c.2216A>C (p.Gln739Pro)
c.2470A>C
c.1712A>C (p.Gln571Pro)
c.2093A>C (p.Gln698Pro)
c.1682A>C (p.Gln561Pro)
c.1835A>C (p.Gln612Pro)
n.2226A>C
n.2550A>C
n.2193A>C
19g.11123249A>GCA404095087LDLRc.2474A>G (p.Gln825Arg)
c.*285A>G (n.*285A>G)
c.2096A>G (p.Gln699Arg)
c.2216A>G (p.Gln739Arg)
c.2470A>G
c.1712A>G (p.Gln571Arg)
c.2093A>G (p.Gln698Arg)
c.1682A>G (p.Gln561Arg)
c.1835A>G (p.Gln612Arg)
n.2226A>G
n.2550A>G
n.2193A>G
19g.11123249A>TCA404095088LDLRc.2474A>T (p.Gln825Leu)
c.*285A>T (n.*285A>T)
c.2096A>T (p.Gln699Leu)
c.2216A>T (p.Gln739Leu)
c.2470A>T
c.1712A>T (p.Gln571Leu)
c.2093A>T (p.Gln698Leu)
c.1682A>T (p.Gln561Leu)
c.1835A>T (p.Gln612Leu)
n.2226A>T
n.2550A>T
n.2193A>T
19g.11123250G>ACA505486945LDLRc.2475G>A (p.Gln825=)
c.*286G>A (n.*286G>A)
c.2097G>A (p.Gln699=)
c.2217G>A (p.Gln739=)
c.2471G>A
c.1713G>A (p.Gln571=)
c.2094G>A (p.Gln698=)
c.1683G>A (p.Gln561=)
c.1836G>A (p.Gln612=)
n.2227G>A
n.2551G>A
n.2194G>A
 gnomAD v4
19g.11123250G>CCA404095095LDLRc.2475G>C (p.Gln825His)
c.*286G>C (n.*286G>C)
c.2097G>C (p.Gln699His)
c.2217G>C (p.Gln739His)
c.2471G>C
c.1713G>C (p.Gln571His)
c.2094G>C (p.Gln698His)
c.1683G>C (p.Gln561His)
c.1836G>C (p.Gln612His)
n.2227G>C
n.2551G>C
n.2194G>C
19g.11123250G>TCA404095103LDLRc.2475G>T (p.Gln825His)
c.*286G>T (n.*286G>T)
c.2097G>T (p.Gln699His)
c.2217G>T (p.Gln739His)
c.2471G>T
c.1713G>T (p.Gln571His)
c.2094G>T (p.Gln698His)
c.1683G>T (p.Gln561His)
c.1836G>T (p.Gln612His)
n.2227G>T
n.2551G>T
n.2194G>T
19g.11123251C>ACA404095107LDLRc.2476C>A (p.His826Asn)
c.*287C>A (n.*287C>A)
c.2098C>A (p.His700Asn)
c.2218C>A (p.His740Asn)
c.2472C>A
c.1714C>A (p.His572Asn)
c.2095C>A (p.His699Asn)
c.1684C>A (p.His562Asn)
c.1837C>A (p.His613Asn)
n.2228C>A
n.2552C>A
n.2195C>A
19g.11123251C>GCA404095109LDLRc.2476C>G (p.His826Asp)
c.*287C>G (n.*287C>G)
c.2098C>G (p.His700Asp)
c.2218C>G (p.His740Asp)
c.2472C>G
c.1714C>G (p.His572Asp)
c.2095C>G (p.His699Asp)
c.1684C>G (p.His562Asp)
c.1837C>G (p.His613Asp)
n.2228C>G
n.2552C>G
n.2195C>G
19g.11123251C>TCA404095112LDLRc.2476C>T (p.His826Tyr)
c.*287C>T (n.*287C>T)
c.2098C>T (p.His700Tyr)
c.2218C>T (p.His740Tyr)
c.2472C>T
c.1714C>T (p.His572Tyr)
c.2095C>T (p.His699Tyr)
c.1684C>T (p.His562Tyr)
c.1837C>T (p.His613Tyr)
n.2228C>T
n.2552C>T
n.2195C>T
19g.11123252A>CCA404095123LDLRc.2477A>C (p.His826Pro)
c.*288A>C (n.*288A>C)
c.2099A>C (p.His700Pro)
c.2219A>C (p.His740Pro)
c.2473A>C
c.1715A>C (p.His572Pro)
c.2096A>C (p.His699Pro)
c.1685A>C (p.His562Pro)
c.1838A>C (p.His613Pro)
n.2229A>C
n.2553A>C
n.2196A>C
19g.11123252A>GCA404095117LDLRc.2477A>G (p.His826Arg)
c.*288A>G (n.*288A>G)
c.2099A>G (p.His700Arg)
c.2219A>G (p.His740Arg)
c.2473A>G
c.1715A>G (p.His572Arg)
c.2096A>G (p.His699Arg)
c.1685A>G (p.His562Arg)
c.1838A>G (p.His613Arg)
n.2229A>G
n.2553A>G
n.2196A>G
19g.11123252A>TCA404095120LDLRc.2477A>T (p.His826Leu)
c.*288A>T (n.*288A>T)
c.2099A>T (p.His700Leu)
c.2219A>T (p.His740Leu)
c.2473A>T
c.1715A>T (p.His572Leu)
c.2096A>T (p.His699Leu)
c.1685A>T (p.His562Leu)
c.1838A>T (p.His613Leu)
n.2229A>T
n.2553A>T
n.2196A>T
19g.11123253C>ACA404095125LDLRc.2478C>A (p.His826Gln)
c.*289C>A (n.*289C>A)
c.2100C>A (p.His700Gln)
c.2220C>A (p.His740Gln)
c.2474C>A
c.1716C>A (p.His572Gln)
c.2097C>A (p.His699Gln)
c.1686C>A (p.His562Gln)
c.1839C>A (p.His613Gln)
n.2230C>A
n.2554C>A
n.2197C>A
 gnomAD v4
19g.11123253C=CA2322777213LDLRc.2478C= (p.His826=)
c.*289C= (n.*289C=)
c.2100C= (p.His700=)
c.2220C= (p.His740=)
c.2474C=
c.1716C= (p.His572=)
c.2097C= (p.His699=)
c.1686C= (p.His562=)
c.1839C= (p.His613=)
n.2230C=
n.2554C=
n.2197C=
19g.11123253C>GCA404095128LDLRc.2478C>G (p.His826Gln)
c.*289C>G (n.*289C>G)
c.2100C>G (p.His700Gln)
c.2220C>G (p.His740Gln)
c.2474C>G
c.1716C>G (p.His572Gln)
c.2097C>G (p.His699Gln)
c.1686C>G (p.His562Gln)
c.1839C>G (p.His613Gln)
n.2230C>G
n.2554C>G
n.2197C>G
19g.11123253C>TCA039155LDLRc.2478C>T (p.His826=)
c.*289C>T (n.*289C>T)
c.2100C>T (p.His700=)
c.2220C>T (p.His740=)
c.2474C>T
c.1716C>T (p.His572=)
c.2097C>T (p.His699=)
c.1686C>T (p.His562=)
c.1839C>T (p.His613=)
n.2230C>T
n.2554C>T
n.2197C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123254A>CCA404095136LDLRc.2479A>C (p.Thr827Pro)
c.*290A>C (n.*290A>C)
c.2101A>C (p.Thr701Pro)
c.2221A>C (p.Thr741Pro)
c.2475A>C
c.1717A>C (p.Thr573Pro)
c.2098A>C (p.Thr700Pro)
c.1687A>C (p.Thr563Pro)
c.1840A>C (p.Thr614Pro)
n.2231A>C
n.2555A>C
n.2198A>C
19g.11123254A>GCA404095138LDLRc.2479A>G (p.Thr827Ala)
c.*290A>G (n.*290A>G)
c.2101A>G (p.Thr701Ala)
c.2221A>G (p.Thr741Ala)
c.2475A>G
c.1717A>G (p.Thr573Ala)
c.2098A>G (p.Thr700Ala)
c.1687A>G (p.Thr563Ala)
c.1840A>G (p.Thr614Ala)
n.2231A>G
n.2555A>G
n.2198A>G
19g.11123254A>TCA404095141LDLRc.2479A>T (p.Thr827Ser)
c.*290A>T (n.*290A>T)
c.2101A>T (p.Thr701Ser)
c.2221A>T (p.Thr741Ser)
c.2475A>T
c.1717A>T (p.Thr573Ser)
c.2098A>T (p.Thr700Ser)
c.1687A>T (p.Thr563Ser)
c.1840A>T (p.Thr614Ser)
n.2231A>T
n.2555A>T
n.2198A>T
19g.11123255C>ACA404095143LDLRc.2480C>A (p.Thr827Lys)
c.*291C>A (n.*291C>A)
c.2102C>A (p.Thr701Lys)
c.2222C>A (p.Thr741Lys)
c.2476C>A
c.1718C>A (p.Thr573Lys)
c.2099C>A (p.Thr700Lys)
c.1688C>A (p.Thr563Lys)
c.1841C>A (p.Thr614Lys)
n.2232C>A
n.2556C>A
n.2199C>A
19g.11123255C>GCA404095146LDLRc.2480C>G (p.Thr827Arg)
c.*291C>G (n.*291C>G)
c.2102C>G (p.Thr701Arg)
c.2222C>G (p.Thr741Arg)
c.2476C>G
c.1718C>G (p.Thr573Arg)
c.2099C>G (p.Thr700Arg)
c.1688C>G (p.Thr563Arg)
c.1841C>G (p.Thr614Arg)
n.2232C>G
n.2556C>G
n.2199C>G
19g.11123255C>TCA404095149LDLRc.2480C>T (p.Thr827Ile)
c.*291C>T (n.*291C>T)
c.2102C>T (p.Thr701Ile)
c.2222C>T (p.Thr741Ile)
c.2476C>T
c.1718C>T (p.Thr573Ile)
c.2099C>T (p.Thr700Ile)
c.1688C>T (p.Thr563Ile)
c.1841C>T (p.Thr614Ile)
n.2232C>T
n.2556C>T
n.2199C>T
19g.11123256A>CCA505486948LDLRc.2481A>C (p.Thr827=)
c.*292A>C (n.*292A>C)
c.2103A>C (p.Thr701=)
c.2223A>C (p.Thr741=)
c.2477A>C
c.1719A>C (p.Thr573=)
c.2100A>C (p.Thr700=)
c.1689A>C (p.Thr563=)
c.1842A>C (p.Thr614=)
n.2233A>C
n.2557A>C
n.2200A>C
19g.11123256A>GCA505486949LDLRc.2481A>G (p.Thr827=)
c.*292A>G (n.*292A>G)
c.2103A>G (p.Thr701=)
c.2223A>G (p.Thr741=)
c.2477A>G
c.1719A>G (p.Thr573=)
c.2100A>G (p.Thr700=)
c.1689A>G (p.Thr563=)
c.1842A>G (p.Thr614=)
n.2233A>G
n.2557A>G
n.2200A>G
19g.11123256A>TCA505486950LDLRc.2481A>T (p.Thr827=)
c.*292A>T (n.*292A>T)
c.2103A>T (p.Thr701=)
c.2223A>T (p.Thr741=)
c.2477A>T
c.1719A>T (p.Thr573=)
c.2100A>T (p.Thr700=)
c.1689A>T (p.Thr563=)
c.1842A>T (p.Thr614=)
n.2233A>T
n.2557A>T
n.2200A>T
 COSMIC
19g.11123257A=CA2322777214LDLRc.2482A= (p.Thr828=)
c.*293A= (n.*293A=)
c.2104A= (p.Thr702=)
c.2224A= (p.Thr742=)
c.2478A=
c.1720A= (p.Thr574=)
c.2101A= (p.Thr701=)
c.1690A= (p.Thr564=)
c.1843A= (p.Thr615=)
n.2234A=
n.2558A=
n.2201A=
19g.11123257A>CCA404095152LDLRc.2482A>C (p.Thr828Pro)
c.*293A>C (n.*293A>C)
c.2104A>C (p.Thr702Pro)
c.2224A>C (p.Thr742Pro)
c.2478A>C
c.1720A>C (p.Thr574Pro)
c.2101A>C (p.Thr701Pro)
c.1690A>C (p.Thr564Pro)
c.1843A>C (p.Thr615Pro)
n.2234A>C
n.2558A>C
n.2201A>C
19g.11123257A>GCA404095155LDLRc.2482A>G (p.Thr828Ala)
c.*293A>G (n.*293A>G)
c.2104A>G (p.Thr702Ala)
c.2224A>G (p.Thr742Ala)
c.2478A>G
c.1720A>G (p.Thr574Ala)
c.2101A>G (p.Thr701Ala)
c.1690A>G (p.Thr564Ala)
c.1843A>G (p.Thr615Ala)
n.2234A>G
n.2558A>G
n.2201A>G
 ClinVar dbSNP gnomAD v4
19g.11123257A>TCA404095156LDLRc.2482A>T (p.Thr828Ser)
c.*293A>T (n.*293A>T)
c.2104A>T (p.Thr702Ser)
c.2224A>T (p.Thr742Ser)
c.2478A>T
c.1720A>T (p.Thr574Ser)
c.2101A>T (p.Thr701Ser)
c.1690A>T (p.Thr564Ser)
c.1843A>T (p.Thr615Ser)
n.2234A>T
n.2558A>T
n.2201A>T
19g.11123257_11123258delinsACCA2322777215LDLRc.2482_2483delinsAC (p.Thr828=)
c.*293_*294delinsAC (n.*293_*294delinsAC)
c.2104_2105delinsAC (p.Thr702=)
c.2224_2225delinsAC (p.Thr742=)
c.2478_2479delinsAC
c.1720_1721delinsAC (p.Thr574=)
c.2101_2102delinsAC (p.Thr701=)
c.1690_1691delinsAC (p.Thr564=)
c.1843_1844delinsAC (p.Thr615=)
n.2234_2235delinsAC
n.2558_2559delinsAC
n.2201_2202delinsAC
19g.11123258C>ACA404095168LDLRc.2483C>A (p.Thr828Asn)
c.*294C>A (n.*294C>A)
c.2105C>A (p.Thr702Asn)
c.2225C>A (p.Thr742Asn)
c.2479C>A
c.1721C>A (p.Thr574Asn)
c.2102C>A (p.Thr701Asn)
c.1691C>A (p.Thr564Asn)
c.1844C>A (p.Thr615Asn)
n.2235C>A
n.2559C>A
n.2202C>A
19g.11123258C=CA2322777216LDLRc.2483C= (p.Thr828=)
c.*294C= (n.*294C=)
c.2105C= (p.Thr702=)
c.2225C= (p.Thr742=)
c.2479C=
c.1721C= (p.Thr574=)
c.2102C= (p.Thr701=)
c.1691C= (p.Thr564=)
c.1844C= (p.Thr615=)
n.2235C=
n.2559C=
n.2202C=
19g.11123258C>GCA404095165LDLRc.2483C>G (p.Thr828Ser)
c.*294C>G (n.*294C>G)
c.2105C>G (p.Thr702Ser)
c.2225C>G (p.Thr742Ser)
c.2479C>G
c.1721C>G (p.Thr574Ser)
c.2102C>G (p.Thr701Ser)
c.1691C>G (p.Thr564Ser)
c.1844C>G (p.Thr615Ser)
n.2235C>G
n.2559C>G
n.2202C>G
19g.11123258C>TCA039172LDLRc.2483C>T (p.Thr828Ile)
c.*294C>T (n.*294C>T)
c.2105C>T (p.Thr702Ile)
c.2225C>T (p.Thr742Ile)
c.2479C>T
c.1721C>T (p.Thr574Ile)
c.2102C>T (p.Thr701Ile)
c.1691C>T (p.Thr564Ile)
c.1844C>T (p.Thr615Ile)
n.2235C>T
n.2559C>T
n.2202C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123259delCA10585810LDLRc.2484del (p.Thr829ProfsTer22)
c.*295del (n.*295del)
c.2106del (p.Thr703ProfsTer22)
c.2226del (p.Thr743ProfsTer22)
c.2480del
c.1722del (p.Thr575ProfsTer22)
c.2103del (p.Thr702ProfsTer22)
c.1692del (p.Thr565ProfsTer22)
c.1845del (p.Thr616ProfsTer22)
n.2236del
n.2560del
n.2203del
 ClinVar dbSNP
19g.11123259C>ACA505486954LDLRc.2484C>A (p.Thr828=)
c.*295C>A (n.*295C>A)
c.2106C>A (p.Thr702=)
c.2226C>A (p.Thr742=)
c.2480C>A
c.1722C>A (p.Thr574=)
c.2103C>A (p.Thr701=)
c.1692C>A (p.Thr564=)
c.1845C>A (p.Thr615=)
n.2236C>A
n.2560C>A
n.2203C>A
 gnomAD v4
19g.11123259C>GCA505486955LDLRc.2484C>G (p.Thr828=)
c.*295C>G (n.*295C>G)
c.2106C>G (p.Thr702=)
c.2226C>G (p.Thr742=)
c.2480C>G
c.1722C>G (p.Thr574=)
c.2103C>G (p.Thr701=)
c.1692C>G (p.Thr564=)
c.1845C>G (p.Thr615=)
n.2236C>G
n.2560C>G
n.2203C>G
19g.11123259C>TCA505486957LDLRc.2484C>T (p.Thr828=)
c.*295C>T (n.*295C>T)
c.2106C>T (p.Thr702=)
c.2226C>T (p.Thr742=)
c.2480C>T
c.1722C>T (p.Thr574=)
c.2103C>T (p.Thr701=)
c.1692C>T (p.Thr564=)
c.1845C>T (p.Thr615=)
n.2236C>T
n.2560C>T
n.2203C>T
19g.11123260A=CA2322777218LDLRc.2485A= (p.Thr829=)
c.*296A= (n.*296A=)
c.2107A= (p.Thr703=)
c.2227A= (p.Thr743=)
c.2481A=
c.1723A= (p.Thr575=)
c.2104A= (p.Thr702=)
c.1693A= (p.Thr565=)
c.1846A= (p.Thr616=)
n.2237A=
n.2561A=
n.2204A=
19g.11123260A>CCA404095170LDLRc.2485A>C (p.Thr829Pro)
c.*296A>C (n.*296A>C)
c.2107A>C (p.Thr703Pro)
c.2227A>C (p.Thr743Pro)
c.2481A>C
c.1723A>C (p.Thr575Pro)
c.2104A>C (p.Thr702Pro)
c.1693A>C (p.Thr565Pro)
c.1846A>C (p.Thr616Pro)
n.2237A>C
n.2561A>C
n.2204A>C
19g.11123260A>GCA404095172LDLRc.2485A>G (p.Thr829Ala)
c.*296A>G (n.*296A>G)
c.2107A>G (p.Thr703Ala)
c.2227A>G (p.Thr743Ala)
c.2481A>G
c.1723A>G (p.Thr575Ala)
c.2104A>G (p.Thr702Ala)
c.1693A>G (p.Thr565Ala)
c.1846A>G (p.Thr616Ala)
n.2237A>G
n.2561A>G
n.2204A>G
 ClinVar dbSNP
19g.11123260A>TCA404095173LDLRc.2485A>T (p.Thr829Ser)
c.*296A>T (n.*296A>T)
c.2107A>T (p.Thr703Ser)
c.2227A>T (p.Thr743Ser)
c.2481A>T
c.1723A>T (p.Thr575Ser)
c.2104A>T (p.Thr702Ser)
c.1693A>T (p.Thr565Ser)
c.1846A>T (p.Thr616Ser)
n.2237A>T
n.2561A>T
n.2204A>T
19g.11123260_11123261delinsACCA2322777217LDLRc.2485_2486delinsAC (p.Thr829=)
c.*296_*297delinsAC (n.*296_*297delinsAC)
c.2107_2108delinsAC (p.Thr703=)
c.2227_2228delinsAC (p.Thr743=)
c.2481_2482delinsAC
c.1723_1724delinsAC (p.Thr575=)
c.2104_2105delinsAC (p.Thr702=)
c.1693_1694delinsAC (p.Thr565=)
c.1846_1847delinsAC (p.Thr616=)
n.2237_2238delinsAC
n.2561_2562delinsAC
n.2204_2205delinsAC
19g.11123261C>ACA404095178LDLRc.2486C>A (p.Thr829Asn)
c.*297C>A (n.*297C>A)
c.2108C>A (p.Thr703Asn)
c.2228C>A (p.Thr743Asn)
c.2482C>A
c.1724C>A (p.Thr575Asn)
c.2105C>A (p.Thr702Asn)
c.1694C>A (p.Thr565Asn)
c.1847C>A (p.Thr616Asn)
n.2238C>A
n.2562C>A
n.2205C>A
19g.11123261C=CA2322777219LDLRc.2486C= (p.Thr829=)
c.*297C= (n.*297C=)
c.2108C= (p.Thr703=)
c.2228C= (p.Thr743=)
c.2482C=
c.1724C= (p.Thr575=)
c.2105C= (p.Thr702=)
c.1694C= (p.Thr565=)
c.1847C= (p.Thr616=)
n.2238C=
n.2562C=
n.2205C=
19g.11123261C>GCA404095179LDLRc.2486C>G (p.Thr829Ser)
c.*297C>G (n.*297C>G)
c.2108C>G (p.Thr703Ser)
c.2228C>G (p.Thr743Ser)
c.2482C>G
c.1724C>G (p.Thr575Ser)
c.2105C>G (p.Thr702Ser)
c.1694C>G (p.Thr565Ser)
c.1847C>G (p.Thr616Ser)
n.2238C>G
n.2562C>G
n.2205C>G
19g.11123261C>TCA305305137LDLRc.2486C>T (p.Thr829Ile)
c.*297C>T (n.*297C>T)
c.2108C>T (p.Thr703Ile)
c.2228C>T (p.Thr743Ile)
c.2482C>T
c.1724C>T (p.Thr575Ile)
c.2105C>T (p.Thr702Ile)
c.1694C>T (p.Thr565Ile)
c.1847C>T (p.Thr616Ile)
n.2238C>T
n.2562C>T
n.2205C>T
 ClinVar dbSNP gnomAD v4
19g.11123263dupCA2697556242LDLRc.2488dup (p.Arg830ProfsTer?)
c.*299dup (n.*299dup)
c.2110dup (p.Arg704ProfsTer?)
c.2230dup (p.Arg744ProfsTer?)
c.2484dup
c.1726dup (p.Arg576ProfsTer?)
c.2107dup (p.Arg703ProfsTer?)
c.1696dup (p.Arg566ProfsTer?)
c.1849dup (p.Arg617ProfsTer?)
n.2240dup
n.2564dup
n.2207dup
 ClinVar
19g.11123263delCA10585811LDLRc.2488del (p.Arg830AspfsTer21)
c.*299del (n.*299del)
c.2110del (p.Arg704AspfsTer21)
c.2230del (p.Arg744AspfsTer21)
c.2484del
c.1726del (p.Arg576AspfsTer21)
c.2107del (p.Arg703AspfsTer21)
c.1696del (p.Arg566AspfsTer21)
c.1849del (p.Arg617AspfsTer21)
n.2240del
n.2564del
n.2207del
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11123262_11123267dupCA645373245LDLRc.2487_2492dup (p.Pro831_Val832insArgPro)
c.*298_*303dup (n.*298_*303dup)
c.2109_2114dup (p.Pro705_Val706insArgPro)
c.2229_2234dup (p.Pro745_Val746insArgPro)
c.2483_2488dup
c.1725_1730dup (p.Pro577_Val578insArgPro)
c.2106_2111dup (p.Pro704_Val705insArgPro)
c.1695_1700dup (p.Pro567_Val568insArgPro)
c.1848_1853dup (p.Pro618_Val619insArgPro)
n.2239_2244dup
n.2563_2568dup
n.2206_2211dup
 ClinVar dbSNP
19g.11123262C>ACA505486964LDLRc.2487C>A (p.Thr829=)
c.*298C>A (n.*298C>A)
c.2109C>A (p.Thr703=)
c.2229C>A (p.Thr743=)
c.2483C>A
c.1725C>A (p.Thr575=)
c.2106C>A (p.Thr702=)
c.1695C>A (p.Thr565=)
c.1848C>A (p.Thr616=)
n.2239C>A
n.2563C>A
n.2206C>A
19g.11123262C=CA2322777220LDLRc.2487C= (p.Thr829=)
c.*298C= (n.*298C=)
c.2109C= (p.Thr703=)
c.2229C= (p.Thr743=)
c.2483C=
c.1725C= (p.Thr575=)
c.2106C= (p.Thr702=)
c.1695C= (p.Thr565=)
c.1848C= (p.Thr616=)
n.2239C=
n.2563C=
n.2206C=
19g.11123262C>GCA505486962LDLRc.2487C>G (p.Thr829=)
c.*298C>G (n.*298C>G)
c.2109C>G (p.Thr703=)
c.2229C>G (p.Thr743=)
c.2483C>G
c.1725C>G (p.Thr575=)
c.2106C>G (p.Thr702=)
c.1695C>G (p.Thr565=)
c.1848C>G (p.Thr616=)
n.2239C>G
n.2563C>G
n.2206C>G
19g.11123262C>TCA505486965LDLRc.2487C>T (p.Thr829=)
c.*298C>T (n.*298C>T)
c.2109C>T (p.Thr703=)
c.2229C>T (p.Thr743=)
c.2483C>T
c.1725C>T (p.Thr575=)
c.2106C>T (p.Thr702=)
c.1695C>T (p.Thr565=)
c.1848C>T (p.Thr616=)
n.2239C>T
n.2563C>T
n.2206C>T
 dbSNP
19g.11123263C>ACA505486966LDLRc.2488C>A (p.Arg830=)
c.*299C>A (n.*299C>A)
c.2110C>A (p.Arg704=)
c.2230C>A (p.Arg744=)
c.2484C>A
c.1726C>A (p.Arg576=)
c.2107C>A (p.Arg703=)
c.1696C>A (p.Arg566=)
c.1849C>A (p.Arg617=)
n.2240C>A
n.2564C>A
n.2207C>A
19g.11123263C=CA2322777221LDLRc.2488C= (p.Arg830=)
c.*299C= (n.*299C=)
c.2110C= (p.Arg704=)
c.2230C= (p.Arg744=)
c.2484C=
c.1726C= (p.Arg576=)
c.2107C= (p.Arg703=)
c.1696C= (p.Arg566=)
c.1849C= (p.Arg617=)
n.2240C=
n.2564C=
n.2207C=
19g.11123263C>GCA404095184LDLRc.2488C>G (p.Arg830Gly)
c.*299C>G (n.*299C>G)
c.2110C>G (p.Arg704Gly)
c.2230C>G (p.Arg744Gly)
c.2484C>G
c.1726C>G (p.Arg576Gly)
c.2107C>G (p.Arg703Gly)
c.1696C>G (p.Arg566Gly)
c.1849C>G (p.Arg617Gly)
n.2240C>G
n.2564C>G
n.2207C>G
19g.11123263C>TCA305305141LDLRc.2488C>T (p.Arg830Ter)
c.*299C>T (n.*299C>T)
c.2110C>T (p.Arg704Ter)
c.2230C>T (p.Arg744Ter)
c.2484C>T
c.1726C>T (p.Arg576Ter)
c.2107C>T (p.Arg703Ter)
c.1696C>T (p.Arg566Ter)
c.1849C>T (p.Arg617Ter)
n.2240C>T
n.2564C>T
n.2207C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123264G>ACA023651LDLRc.2489G>A (p.Arg830Gln)
c.*300G>A (n.*300G>A)
c.2111G>A (p.Arg704Gln)
c.2231G>A (p.Arg744Gln)
c.2485G>A
c.1727G>A (p.Arg576Gln)
c.2108G>A (p.Arg703Gln)
c.1697G>A (p.Arg566Gln)
c.1850G>A (p.Arg617Gln)
n.2241G>A
n.2565G>A
n.2208G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123264G>CCA404095189LDLRc.2489G>C (p.Arg830Pro)
c.*300G>C (n.*300G>C)
c.2111G>C (p.Arg704Pro)
c.2231G>C (p.Arg744Pro)
c.2485G>C
c.1727G>C (p.Arg576Pro)
c.2108G>C (p.Arg703Pro)
c.1697G>C (p.Arg566Pro)
c.1850G>C (p.Arg617Pro)
n.2241G>C
n.2565G>C
n.2208G>C
19g.11123264G=CA2322777223LDLRc.2489G= (p.Arg830=)
c.*300G= (n.*300G=)
c.2111G= (p.Arg704=)
c.2231G= (p.Arg744=)
c.2485G=
c.1727G= (p.Arg576=)
c.2108G= (p.Arg703=)
c.1697G= (p.Arg566=)
c.1850G= (p.Arg617=)
n.2241G=
n.2565G=
n.2208G=
19g.11123264G>TCA404095194LDLRc.2489G>T (p.Arg830Leu)
c.*300G>T (n.*300G>T)
c.2111G>T (p.Arg704Leu)
c.2231G>T (p.Arg744Leu)
c.2485G>T
c.1727G>T (p.Arg576Leu)
c.2108G>T (p.Arg703Leu)
c.1697G>T (p.Arg566Leu)
c.1850G>T (p.Arg617Leu)
n.2241G>T
n.2565G>T
n.2208G>T
19g.11123264_11123265delinsAGCA658658781LDLRc.2489_2490delinsAG (p.Arg830Gln)
c.*300_*301delinsAG (n.*300_*301delinsAG)
c.2111_2112delinsAG (p.Arg704Gln)
c.2231_2232delinsAG (p.Arg744Gln)
c.2485_2486delinsAG
c.1727_1728delinsAG (p.Arg576Gln)
c.2108_2109delinsAG (p.Arg703Gln)
c.1697_1698delinsAG (p.Arg566Gln)
c.1850_1851delinsAG (p.Arg617Gln)
n.2241_2242delinsAG
n.2565_2566delinsAG
n.2208_2209delinsAG
 ClinVar dbSNP
19g.11123264_11123265delinsGACA2322777222LDLRc.2489_2490delinsGA (p.Arg830=)
c.*300_*301delinsGA (n.*300_*301delinsGA)
c.2111_2112delinsGA (p.Arg704=)
c.2231_2232delinsGA (p.Arg744=)
c.2485_2486delinsGA
c.1727_1728delinsGA (p.Arg576=)
c.2108_2109delinsGA (p.Arg703=)
c.1697_1698delinsGA (p.Arg566=)
c.1850_1851delinsGA (p.Arg617=)
n.2241_2242delinsGA
n.2565_2566delinsGA
n.2208_2209delinsGA
19g.11123265A=CA2322777224LDLRc.2490A= (p.Arg830=)
c.*301A= (n.*301A=)
c.2112A= (p.Arg704=)
c.2232A= (p.Arg744=)
c.2486A=
c.1728A= (p.Arg576=)
c.2109A= (p.Arg703=)
c.1698A= (p.Arg566=)
c.1851A= (p.Arg617=)
n.2242A=
n.2566A=
n.2209A=
19g.11123265A>CCA505486969LDLRc.2490A>C (p.Arg830=)
c.*301A>C (n.*301A>C)
c.2112A>C (p.Arg704=)
c.2232A>C (p.Arg744=)
c.2486A>C
c.1728A>C (p.Arg576=)
c.2109A>C (p.Arg703=)
c.1698A>C (p.Arg566=)
c.1851A>C (p.Arg617=)
n.2242A>C
n.2566A>C
n.2209A>C
19g.11123265A>GCA039203LDLRc.2490A>G (p.Arg830=)
c.*301A>G (n.*301A>G)
c.2112A>G (p.Arg704=)
c.2232A>G (p.Arg744=)
c.2486A>G
c.1728A>G (p.Arg576=)
c.2109A>G (p.Arg703=)
c.1698A>G (p.Arg566=)
c.1851A>G (p.Arg617=)
n.2242A>G
n.2566A>G
n.2209A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123265A>TCA505486970LDLRc.2490A>T (p.Arg830=)
c.*301A>T (n.*301A>T)
c.2112A>T (p.Arg704=)
c.2232A>T (p.Arg744=)
c.2486A>T
c.1728A>T (p.Arg576=)
c.2109A>T (p.Arg703=)
c.1698A>T (p.Arg566=)
c.1851A>T (p.Arg617=)
n.2242A>T
n.2566A>T
n.2209A>T
19g.11123265_11123323delCA2573156041LDLRc.2490_2548del (p.Pro831SerfsTer17)
c.*301_*359del (n.*301_*359del)
c.2112_2170del (p.Pro705SerfsTer17)
c.2232_2290del (p.Pro745SerfsTer17)
c.2486_2544del
c.1728_1786del (p.Pro577SerfsTer17)
c.2109_2167del (p.Pro704SerfsTer17)
c.1698_1756del (p.Pro567SerfsTer17)
c.2232_2290del (p.Pro745SerfsTer26)
c.1851_1909del (p.Pro618SerfsTer17)
n.2242_2300del
n.2566_2624del
n.2209_2267del
 ClinVar dbSNP
19g.11123265_11123324delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATCA2322777225LDLRc.2490_2549delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg830=)
c.*301_*360delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (n.*301_*360delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT)
c.2112_2171delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg704=)
c.2232_2291delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg744=)
c.2486_2545delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT
c.1728_1787delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg576=)
c.2109_2168delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg703=)
c.1698_1757delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg566=)
c.1851_1910delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg617=)
n.2242_2301delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT
n.2566_2625delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT
n.2209_2268delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT
19g.11123266C>ACA404095202LDLRc.2491C>A (p.Pro831Thr)
c.*302C>A (n.*302C>A)
c.2113C>A (p.Pro705Thr)
c.2233C>A (p.Pro745Thr)
c.2487C>A
c.1729C>A (p.Pro577Thr)
c.2110C>A (p.Pro704Thr)
c.1699C>A (p.Pro567Thr)
c.1852C>A (p.Pro618Thr)
n.2243C>A
n.2567C>A
n.2210C>A
19g.11123266C=CA2322777226LDLRc.2491C= (p.Pro831=)
c.*302C= (n.*302C=)
c.2113C= (p.Pro705=)
c.2233C= (p.Pro745=)
c.2487C=
c.1729C= (p.Pro577=)
c.2110C= (p.Pro704=)
c.1699C= (p.Pro567=)
c.1852C= (p.Pro618=)
n.2243C=
n.2567C=
n.2210C=
19g.11123266C>GCA404095198LDLRc.2491C>G (p.Pro831Ala)
c.*302C>G (n.*302C>G)
c.2113C>G (p.Pro705Ala)
c.2233C>G (p.Pro745Ala)
c.2487C>G
c.1729C>G (p.Pro577Ala)
c.2110C>G (p.Pro704Ala)
c.1699C>G (p.Pro567Ala)
c.1852C>G (p.Pro618Ala)
n.2243C>G
n.2567C>G
n.2210C>G
19g.11123266C>TCA305305147LDLRc.2491C>T (p.Pro831Ser)
c.*302C>T (n.*302C>T)
c.2113C>T (p.Pro705Ser)
c.2233C>T (p.Pro745Ser)
c.2487C>T
c.1729C>T (p.Pro577Ser)
c.2110C>T (p.Pro704Ser)
c.1699C>T (p.Pro567Ser)
c.1852C>T (p.Pro618Ser)
n.2243C>T
n.2567C>T
n.2210C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11123266_11123324delCA658799127LDLRc.2491_2549del (p.Pro831SerfsTer17)
c.*302_*360del (n.*302_*360del)
c.2113_2171del (p.Pro705SerfsTer17)
c.2233_2291del (p.Pro745SerfsTer17)
c.2487_2545del
c.1729_1787del (p.Pro577SerfsTer17)
c.2110_2168del (p.Pro704SerfsTer17)
c.1699_1757del (p.Pro567SerfsTer17)
c.2233_2291del (p.Pro745SerfsTer26)
c.1852_1910del (p.Pro618SerfsTer17)
n.2243_2301del
n.2567_2625del
n.2210_2268del
 ClinVar dbSNP

Number of alleles fetched