Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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.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
 ClinVar 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
19g.11123267C>ACA404095207LDLRc.2492C>A (p.Pro831His)
c.*303C>A (n.*303C>A)
c.2114C>A (p.Pro705His)
c.2234C>A (p.Pro745His)
c.2488C>A
c.1730C>A (p.Pro577His)
c.2111C>A (p.Pro704His)
c.1700C>A (p.Pro567His)
c.1853C>A (p.Pro618His)
n.2244C>A
n.2568C>A
n.2211C>A
19g.11123267C>GCA404095213LDLRc.2492C>G (p.Pro831Arg)
c.*303C>G (n.*303C>G)
c.2114C>G (p.Pro705Arg)
c.2234C>G (p.Pro745Arg)
c.2488C>G
c.1730C>G (p.Pro577Arg)
c.2111C>G (p.Pro704Arg)
c.1700C>G (p.Pro567Arg)
c.1853C>G (p.Pro618Arg)
n.2244C>G
n.2568C>G
n.2211C>G
19g.11123267C>TCA404095215LDLRc.2492C>T (p.Pro831Leu)
c.*303C>T (n.*303C>T)
c.2114C>T (p.Pro705Leu)
c.2234C>T (p.Pro745Leu)
c.2488C>T
c.1730C>T (p.Pro577Leu)
c.2111C>T (p.Pro704Leu)
c.1700C>T (p.Pro567Leu)
c.1853C>T (p.Pro618Leu)
n.2244C>T
n.2568C>T
n.2211C>T
 ClinVar
19g.11123268T>ACA505486973LDLRc.2493T>A (p.Pro831=)
c.*304T>A (n.*304T>A)
c.2115T>A (p.Pro705=)
c.2235T>A (p.Pro745=)
c.2489T>A
c.1731T>A (p.Pro577=)
c.2112T>A (p.Pro704=)
c.1701T>A (p.Pro567=)
c.1854T>A (p.Pro618=)
n.2245T>A
n.2569T>A
n.2212T>A
19g.11123268T>CCA505486975LDLRc.2493T>C (p.Pro831=)
c.*304T>C (n.*304T>C)
c.2115T>C (p.Pro705=)
c.2235T>C (p.Pro745=)
c.2489T>C
c.1731T>C (p.Pro577=)
c.2112T>C (p.Pro704=)
c.1701T>C (p.Pro567=)
c.1854T>C (p.Pro618=)
n.2245T>C
n.2569T>C
n.2212T>C
19g.11123268T>GCA505486974LDLRc.2493T>G (p.Pro831=)
c.*304T>G (n.*304T>G)
c.2115T>G (p.Pro705=)
c.2235T>G (p.Pro745=)
c.2489T>G
c.1731T>G (p.Pro577=)
c.2112T>G (p.Pro704=)
c.1701T>G (p.Pro567=)
c.1854T>G (p.Pro618=)
n.2245T>G
n.2569T>G
n.2212T>G
19g.11123269G>ACA404095217LDLRc.2494G>A (p.Val832Ile)
c.*305G>A (n.*305G>A)
c.2116G>A (p.Val706Ile)
c.2236G>A (p.Val746Ile)
c.2490G>A
c.1732G>A (p.Val578Ile)
c.2113G>A (p.Val705Ile)
c.1702G>A (p.Val568Ile)
c.1855G>A (p.Val619Ile)
n.2246G>A
n.2570G>A
n.2213G>A
19g.11123269G>CCA404095218LDLRc.2494G>C (p.Val832Leu)
c.*305G>C (n.*305G>C)
c.2116G>C (p.Val706Leu)
c.2236G>C (p.Val746Leu)
c.2490G>C
c.1732G>C (p.Val578Leu)
c.2113G>C (p.Val705Leu)
c.1702G>C (p.Val568Leu)
c.1855G>C (p.Val619Leu)
n.2246G>C
n.2570G>C
n.2213G>C
19g.11123269G>TCA404095219LDLRc.2494G>T (p.Val832Phe)
c.*305G>T (n.*305G>T)
c.2116G>T (p.Val706Phe)
c.2236G>T (p.Val746Phe)
c.2490G>T
c.1732G>T (p.Val578Phe)
c.2113G>T (p.Val705Phe)
c.1702G>T (p.Val568Phe)
c.1855G>T (p.Val619Phe)
n.2246G>T
n.2570G>T
n.2213G>T
19g.11123270T>ACA404095221LDLRc.2495T>A (p.Val832Asp)
c.*306T>A (n.*306T>A)
c.2117T>A (p.Val706Asp)
c.2237T>A (p.Val746Asp)
c.2491T>A
c.1733T>A (p.Val578Asp)
c.2114T>A (p.Val705Asp)
c.1703T>A (p.Val568Asp)
c.1856T>A (p.Val619Asp)
n.2247T>A
n.2571T>A
n.2214T>A
19g.11123270T>CCA404095223LDLRc.2495T>C (p.Val832Ala)
c.*306T>C (n.*306T>C)
c.2117T>C (p.Val706Ala)
c.2237T>C (p.Val746Ala)
c.2491T>C
c.1733T>C (p.Val578Ala)
c.2114T>C (p.Val705Ala)
c.1703T>C (p.Val568Ala)
c.1856T>C (p.Val619Ala)
n.2247T>C
n.2571T>C
n.2214T>C
19g.11123270T>GCA404095226LDLRc.2495T>G (p.Val832Gly)
c.*306T>G (n.*306T>G)
c.2117T>G (p.Val706Gly)
c.2237T>G (p.Val746Gly)
c.2491T>G
c.1733T>G (p.Val578Gly)
c.2114T>G (p.Val705Gly)
c.1703T>G (p.Val568Gly)
c.1856T>G (p.Val619Gly)
n.2247T>G
n.2571T>G
n.2214T>G
19g.11123271delCA2497030104LDLRc.2496del (p.Asp834ThrfsTer17)
c.*307del (n.*307del)
c.2118del (p.Asp708ThrfsTer17)
c.2238del (p.Asp748ThrfsTer17)
c.2492del
c.1734del (p.Asp580ThrfsTer17)
c.2115del (p.Asp707ThrfsTer17)
c.1704del (p.Asp570ThrfsTer17)
c.1857del (p.Asp621ThrfsTer17)
n.2248del
n.2572del
n.2215del
19g.11123271T>ACA505486979LDLRc.2496T>A (p.Val832=)
c.*307T>A (n.*307T>A)
c.2118T>A (p.Val706=)
c.2238T>A (p.Val746=)
c.2492T>A
c.1734T>A (p.Val578=)
c.2115T>A (p.Val705=)
c.1704T>A (p.Val568=)
c.1857T>A (p.Val619=)
n.2248T>A
n.2572T>A
n.2215T>A
19g.11123271T>CCA505486980LDLRc.2496T>C (p.Val832=)
c.*307T>C (n.*307T>C)
c.2118T>C (p.Val706=)
c.2238T>C (p.Val746=)
c.2492T>C
c.1734T>C (p.Val578=)
c.2115T>C (p.Val705=)
c.1704T>C (p.Val568=)
c.1857T>C (p.Val619=)
n.2248T>C
n.2572T>C
n.2215T>C
19g.11123271T>GCA505486981LDLRc.2496T>G (p.Val832=)
c.*307T>G (n.*307T>G)
c.2118T>G (p.Val706=)
c.2238T>G (p.Val746=)
c.2492T>G
c.1734T>G (p.Val578=)
c.2115T>G (p.Val705=)
c.1704T>G (p.Val568=)
c.1857T>G (p.Val619=)
n.2248T>G
n.2572T>G
n.2215T>G
19g.11123272C>ACA404095231LDLRc.2497C>A (p.Pro833Thr)
c.*308C>A (n.*308C>A)
c.2119C>A (p.Pro707Thr)
c.2239C>A (p.Pro747Thr)
c.2493C>A
c.1735C>A (p.Pro579Thr)
c.2116C>A (p.Pro706Thr)
c.1705C>A (p.Pro569Thr)
c.1858C>A (p.Pro620Thr)
n.2249C>A
n.2573C>A
n.2216C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123272C=CA2322777227LDLRc.2497C= (p.Pro833=)
c.*308C= (n.*308C=)
c.2119C= (p.Pro707=)
c.2239C= (p.Pro747=)
c.2493C=
c.1735C= (p.Pro579=)
c.2116C= (p.Pro706=)
c.1705C= (p.Pro569=)
c.1858C= (p.Pro620=)
n.2249C=
n.2573C=
n.2216C=
19g.11123272C>GCA404095233LDLRc.2497C>G (p.Pro833Ala)
c.*308C>G (n.*308C>G)
c.2119C>G (p.Pro707Ala)
c.2239C>G (p.Pro747Ala)
c.2493C>G
c.1735C>G (p.Pro579Ala)
c.2116C>G (p.Pro706Ala)
c.1705C>G (p.Pro569Ala)
c.1858C>G (p.Pro620Ala)
n.2249C>G
n.2573C>G
n.2216C>G
19g.11123272C>TCA404095234LDLRc.2497C>T (p.Pro833Ser)
c.*308C>T (n.*308C>T)
c.2119C>T (p.Pro707Ser)
c.2239C>T (p.Pro747Ser)
c.2493C>T
c.1735C>T (p.Pro579Ser)
c.2116C>T (p.Pro706Ser)
c.1705C>T (p.Pro569Ser)
c.1858C>T (p.Pro620Ser)
n.2249C>T
n.2573C>T
n.2216C>T
 ClinVar dbSNP gnomAD v4
19g.11123274delCA2695238658LDLRc.2499del (p.Asp834ThrfsTer17)
c.*310del (n.*310del)
c.2121del (p.Asp708ThrfsTer17)
c.2241del (p.Asp748ThrfsTer17)
c.2495del
c.1737del (p.Asp580ThrfsTer17)
c.2118del (p.Asp707ThrfsTer17)
c.1707del (p.Asp570ThrfsTer17)
c.1860del (p.Asp621ThrfsTer17)
n.2251del
n.2575del
n.2218del
19g.11123273C>ACA404095237LDLRc.2498C>A (p.Pro833His)
c.*309C>A (n.*309C>A)
c.2120C>A (p.Pro707His)
c.2240C>A (p.Pro747His)
c.2494C>A
c.1736C>A (p.Pro579His)
c.2117C>A (p.Pro706His)
c.1706C>A (p.Pro569His)
c.1859C>A (p.Pro620His)
n.2250C>A
n.2574C>A
n.2217C>A
19g.11123273C>GCA404095240LDLRc.2498C>G (p.Pro833Arg)
c.*309C>G (n.*309C>G)
c.2120C>G (p.Pro707Arg)
c.2240C>G (p.Pro747Arg)
c.2494C>G
c.1736C>G (p.Pro579Arg)
c.2117C>G (p.Pro706Arg)
c.1706C>G (p.Pro569Arg)
c.1859C>G (p.Pro620Arg)
n.2250C>G
n.2574C>G
n.2217C>G
19g.11123273C>TCA404095238LDLRc.2498C>T (p.Pro833Leu)
c.*309C>T (n.*309C>T)
c.2120C>T (p.Pro707Leu)
c.2240C>T (p.Pro747Leu)
c.2494C>T
c.1736C>T (p.Pro579Leu)
c.2117C>T (p.Pro706Leu)
c.1706C>T (p.Pro569Leu)
c.1859C>T (p.Pro620Leu)
n.2250C>T
n.2574C>T
n.2217C>T
19g.11123274C>ACA505486984LDLRc.2499C>A (p.Pro833=)
c.*310C>A (n.*310C>A)
c.2121C>A (p.Pro707=)
c.2241C>A (p.Pro747=)
c.2495C>A
c.1737C>A (p.Pro579=)
c.2118C>A (p.Pro706=)
c.1707C>A (p.Pro569=)
c.1860C>A (p.Pro620=)
n.2251C>A
n.2575C>A
n.2218C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123274C=CA2322777228LDLRc.2499C= (p.Pro833=)
c.*310C= (n.*310C=)
c.2121C= (p.Pro707=)
c.2241C= (p.Pro747=)
c.2495C=
c.1737C= (p.Pro579=)
c.2118C= (p.Pro706=)
c.1707C= (p.Pro569=)
c.1860C= (p.Pro620=)
n.2251C=
n.2575C=
n.2218C=
19g.11123274C>GCA505486986LDLRc.2499C>G (p.Pro833=)
c.*310C>G (n.*310C>G)
c.2121C>G (p.Pro707=)
c.2241C>G (p.Pro747=)
c.2495C>G
c.1737C>G (p.Pro579=)
c.2118C>G (p.Pro706=)
c.1707C>G (p.Pro569=)
c.1860C>G (p.Pro620=)
n.2251C>G
n.2575C>G
n.2218C>G
19g.11123274C>TCA039214LDLRc.2499C>T (p.Pro833=)
c.*310C>T (n.*310C>T)
c.2121C>T (p.Pro707=)
c.2241C>T (p.Pro747=)
c.2495C>T
c.1737C>T (p.Pro579=)
c.2118C>T (p.Pro706=)
c.1707C>T (p.Pro569=)
c.1860C>T (p.Pro620=)
n.2251C>T
n.2575C>T
n.2218C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123275G>ACA023653LDLRc.2500G>A (p.Asp834Asn)
c.*311G>A (n.*311G>A)
c.2122G>A (p.Asp708Asn)
c.2242G>A (p.Asp748Asn)
c.2496G>A
c.1738G>A (p.Asp580Asn)
c.2119G>A (p.Asp707Asn)
c.1708G>A (p.Asp570Asn)
c.1861G>A (p.Asp621Asn)
n.2252G>A
n.2576G>A
n.2219G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123275G>CCA404095246LDLRc.2500G>C (p.Asp834His)
c.*311G>C (n.*311G>C)
c.2122G>C (p.Asp708His)
c.2242G>C (p.Asp748His)
c.2496G>C
c.1738G>C (p.Asp580His)
c.2119G>C (p.Asp707His)
c.1708G>C (p.Asp570His)
c.1861G>C (p.Asp621His)
n.2252G>C
n.2576G>C
n.2219G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11123275G=CA2322777229LDLRc.2500G= (p.Asp834=)
c.*311G= (n.*311G=)
c.2122G= (p.Asp708=)
c.2242G= (p.Asp748=)
c.2496G=
c.1738G= (p.Asp580=)
c.2119G= (p.Asp707=)
c.1708G= (p.Asp570=)
c.1861G= (p.Asp621=)
n.2252G=
n.2576G=
n.2219G=
19g.11123275G>TCA404095250LDLRc.2500G>T (p.Asp834Tyr)
c.*311G>T (n.*311G>T)
c.2122G>T (p.Asp708Tyr)
c.2242G>T (p.Asp748Tyr)
c.2496G>T
c.1738G>T (p.Asp580Tyr)
c.2119G>T (p.Asp707Tyr)
c.1708G>T (p.Asp570Tyr)
c.1861G>T (p.Asp621Tyr)
n.2252G>T
n.2576G>T
n.2219G>T
19g.11123276A>CCA404095256LDLRc.2501A>C (p.Asp834Ala)
c.*312A>C (n.*312A>C)
c.2123A>C (p.Asp708Ala)
c.2243A>C (p.Asp748Ala)
c.2497A>C
c.1739A>C (p.Asp580Ala)
c.2120A>C (p.Asp707Ala)
c.1709A>C (p.Asp570Ala)
c.1862A>C (p.Asp621Ala)
n.2253A>C
n.2577A>C
n.2220A>C
19g.11123276A>GCA404095268LDLRc.2501A>G (p.Asp834Gly)
c.*312A>G (n.*312A>G)
c.2123A>G (p.Asp708Gly)
c.2243A>G (p.Asp748Gly)
c.2497A>G
c.1739A>G (p.Asp580Gly)
c.2120A>G (p.Asp707Gly)
c.1709A>G (p.Asp570Gly)
c.1862A>G (p.Asp621Gly)
n.2253A>G
n.2577A>G
n.2220A>G
19g.11123276A>TCA404095272LDLRc.2501A>T (p.Asp834Val)
c.*312A>T (n.*312A>T)
c.2123A>T (p.Asp708Val)
c.2243A>T (p.Asp748Val)
c.2497A>T
c.1739A>T (p.Asp580Val)
c.2120A>T (p.Asp707Val)
c.1709A>T (p.Asp570Val)
c.1862A>T (p.Asp621Val)
n.2253A>T
n.2577A>T
n.2220A>T
19g.11123277C>ACA404095278LDLRc.2502C>A (p.Asp834Glu)
c.*313C>A (n.*313C>A)
c.2124C>A (p.Asp708Glu)
c.2244C>A (p.Asp748Glu)
c.2498C>A
c.1740C>A (p.Asp580Glu)
c.2121C>A (p.Asp707Glu)
c.1710C>A (p.Asp570Glu)
c.1863C>A (p.Asp621Glu)
n.2254C>A
n.2578C>A
n.2221C>A
19g.11123277C>GCA404095282LDLRc.2502C>G (p.Asp834Glu)
c.*313C>G (n.*313C>G)
c.2124C>G (p.Asp708Glu)
c.2244C>G (p.Asp748Glu)
c.2498C>G
c.1740C>G (p.Asp580Glu)
c.2121C>G (p.Asp707Glu)
c.1710C>G (p.Asp570Glu)
c.1863C>G (p.Asp621Glu)
n.2254C>G
n.2578C>G
n.2221C>G
19g.11123277C>TCA505486987LDLRc.2502C>T (p.Asp834=)
c.*313C>T (n.*313C>T)
c.2124C>T (p.Asp708=)
c.2244C>T (p.Asp748=)
c.2498C>T
c.1740C>T (p.Asp580=)
c.2121C>T (p.Asp707=)
c.1710C>T (p.Asp570=)
c.1863C>T (p.Asp621=)
n.2254C>T
n.2578C>T
n.2221C>T
 ClinVar gnomAD v4
19g.11123278A>CCA404095289LDLRc.2503A>C (p.Thr835Pro)
c.*314A>C (n.*314A>C)
c.2125A>C (p.Thr709Pro)
c.2245A>C (p.Thr749Pro)
c.2499A>C
c.1741A>C (p.Thr581Pro)
c.2122A>C (p.Thr708Pro)
c.1711A>C (p.Thr571Pro)
c.1864A>C (p.Thr622Pro)
n.2255A>C
n.2579A>C
n.2222A>C
19g.11123278A>GCA404095293LDLRc.2503A>G (p.Thr835Ala)
c.*314A>G (n.*314A>G)
c.2125A>G (p.Thr709Ala)
c.2245A>G (p.Thr749Ala)
c.2499A>G
c.1741A>G (p.Thr581Ala)
c.2122A>G (p.Thr708Ala)
c.1711A>G (p.Thr571Ala)
c.1864A>G (p.Thr622Ala)
n.2255A>G
n.2579A>G
n.2222A>G
19g.11123278A>TCA404095295LDLRc.2503A>T (p.Thr835Ser)
c.*314A>T (n.*314A>T)
c.2125A>T (p.Thr709Ser)
c.2245A>T (p.Thr749Ser)
c.2499A>T
c.1741A>T (p.Thr581Ser)
c.2122A>T (p.Thr708Ser)
c.1711A>T (p.Thr571Ser)
c.1864A>T (p.Thr622Ser)
n.2255A>T
n.2579A>T
n.2222A>T
19g.11123279C>ACA404095300LDLRc.2504C>A (p.Thr835Asn)
c.*315C>A (n.*315C>A)
c.2126C>A (p.Thr709Asn)
c.2246C>A (p.Thr749Asn)
c.2500C>A
c.1742C>A (p.Thr581Asn)
c.2123C>A (p.Thr708Asn)
c.1712C>A (p.Thr571Asn)
c.1865C>A (p.Thr622Asn)
n.2256C>A
n.2580C>A
n.2223C>A
 dbSNP
19g.11123279C=CA2322777230LDLRc.2504C= (p.Thr835=)
c.*315C= (n.*315C=)
c.2126C= (p.Thr709=)
c.2246C= (p.Thr749=)
c.2500C=
c.1742C= (p.Thr581=)
c.2123C= (p.Thr708=)
c.1712C= (p.Thr571=)
c.1865C= (p.Thr622=)
n.2256C=
n.2580C=
n.2223C=
19g.11123279C>GCA404095304LDLRc.2504C>G (p.Thr835Ser)
c.*315C>G (n.*315C>G)
c.2126C>G (p.Thr709Ser)
c.2246C>G (p.Thr749Ser)
c.2500C>G
c.1742C>G (p.Thr581Ser)
c.2123C>G (p.Thr708Ser)
c.1712C>G (p.Thr571Ser)
c.1865C>G (p.Thr622Ser)
n.2256C>G
n.2580C>G
n.2223C>G
19g.11123279C>TCA404095307LDLRc.2504C>T (p.Thr835Ile)
c.*315C>T (n.*315C>T)
c.2126C>T (p.Thr709Ile)
c.2246C>T (p.Thr749Ile)
c.2500C>T
c.1742C>T (p.Thr581Ile)
c.2123C>T (p.Thr708Ile)
c.1712C>T (p.Thr571Ile)
c.1865C>T (p.Thr622Ile)
n.2256C>T
n.2580C>T
n.2223C>T
 gnomAD v4
19g.11123280C>ACA505486989LDLRc.2505C>A (p.Thr835=)
c.*316C>A (n.*316C>A)
c.2127C>A (p.Thr709=)
c.2247C>A (p.Thr749=)
c.2501C>A
c.1743C>A (p.Thr581=)
c.2124C>A (p.Thr708=)
c.1713C>A (p.Thr571=)
c.1866C>A (p.Thr622=)
n.2257C>A
n.2581C>A
n.2224C>A
19g.11123280C=CA2322777231LDLRc.2505C= (p.Thr835=)
c.*316C= (n.*316C=)
c.2127C= (p.Thr709=)
c.2247C= (p.Thr749=)
c.2501C=
c.1743C= (p.Thr581=)
c.2124C= (p.Thr708=)
c.1713C= (p.Thr571=)
c.1866C= (p.Thr622=)
n.2257C=
n.2581C=
n.2224C=
19g.11123280C>GCA505486991LDLRc.2505C>G (p.Thr835=)
c.*316C>G (n.*316C>G)
c.2127C>G (p.Thr709=)
c.2247C>G (p.Thr749=)
c.2501C>G
c.1743C>G (p.Thr581=)
c.2124C>G (p.Thr708=)
c.1713C>G (p.Thr571=)
c.1866C>G (p.Thr622=)
n.2257C>G
n.2581C>G
n.2224C>G
 ClinVar dbSNP
19g.11123280C>TCA505486993LDLRc.2505C>T (p.Thr835=)
c.*316C>T (n.*316C>T)
c.2127C>T (p.Thr709=)
c.2247C>T (p.Thr749=)
c.2501C>T
c.1743C>T (p.Thr581=)
c.2124C>T (p.Thr708=)
c.1713C>T (p.Thr571=)
c.1866C>T (p.Thr622=)
n.2257C>T
n.2581C>T
n.2224C>T
 ClinVar dbSNP gnomAD v4
19g.11123281T>ACA404095312LDLRc.2506T>A (p.Ser836Thr)
c.*317T>A (n.*317T>A)
c.2128T>A (p.Ser710Thr)
c.2248T>A (p.Ser750Thr)
c.2502T>A
c.1744T>A (p.Ser582Thr)
c.2125T>A (p.Ser709Thr)
c.1714T>A (p.Ser572Thr)
c.1867T>A (p.Ser623Thr)
n.2258T>A
n.2582T>A
n.2225T>A
 gnomAD v4
19g.11123281T>CCA404095326LDLRc.2506T>C (p.Ser836Pro)
c.*317T>C (n.*317T>C)
c.2128T>C (p.Ser710Pro)
c.2248T>C (p.Ser750Pro)
c.2502T>C
c.1744T>C (p.Ser582Pro)
c.2125T>C (p.Ser709Pro)
c.1714T>C (p.Ser572Pro)
c.1867T>C (p.Ser623Pro)
n.2258T>C
n.2582T>C
n.2225T>C
19g.11123281T>GCA404095323LDLRc.2506T>G (p.Ser836Ala)
c.*317T>G (n.*317T>G)
c.2128T>G (p.Ser710Ala)
c.2248T>G (p.Ser750Ala)
c.2502T>G
c.1744T>G (p.Ser582Ala)
c.2125T>G (p.Ser709Ala)
c.1714T>G (p.Ser572Ala)
c.1867T>G (p.Ser623Ala)
n.2258T>G
n.2582T>G
n.2225T>G
19g.11123281_11123282delinsTCCA2322777232LDLRc.2506_2507delinsTC (p.Ser836=)
c.*317_*318delinsTC (n.*317_*318delinsTC)
c.2128_2129delinsTC (p.Ser710=)
c.2248_2249delinsTC (p.Ser750=)
c.2502_2503delinsTC
c.1744_1745delinsTC (p.Ser582=)
c.2125_2126delinsTC (p.Ser709=)
c.1714_1715delinsTC (p.Ser572=)
c.1867_1868delinsTC (p.Ser623=)
n.2258_2259delinsTC
n.2582_2583delinsTC
n.2225_2226delinsTC
19g.11123282C>ACA404095330LDLRc.2507C>A (p.Ser836Tyr)
c.*318C>A (n.*318C>A)
c.2129C>A (p.Ser710Tyr)
c.2249C>A (p.Ser750Tyr)
c.2503C>A
c.1745C>A (p.Ser582Tyr)
c.2126C>A (p.Ser709Tyr)
c.1715C>A (p.Ser572Tyr)
c.1868C>A (p.Ser623Tyr)
n.2259C>A
n.2583C>A
n.2226C>A
19g.11123282C=CA2322777233LDLRc.2507C= (p.Ser836=)
c.*318C= (n.*318C=)
c.2129C= (p.Ser710=)
c.2249C= (p.Ser750=)
c.2503C=
c.1745C= (p.Ser582=)
c.2126C= (p.Ser709=)
c.1715C= (p.Ser572=)
c.1868C= (p.Ser623=)
n.2259C=
n.2583C=
n.2226C=
19g.11123282C>GCA404095334LDLRc.2507C>G (p.Ser836Cys)
c.*318C>G (n.*318C>G)
c.2129C>G (p.Ser710Cys)
c.2249C>G (p.Ser750Cys)
c.2503C>G
c.1745C>G (p.Ser582Cys)
c.2126C>G (p.Ser709Cys)
c.1715C>G (p.Ser572Cys)
c.1868C>G (p.Ser623Cys)
n.2259C>G
n.2583C>G
n.2226C>G
19g.11123282C>TCA404095337LDLRc.2507C>T (p.Ser836Phe)
c.*318C>T (n.*318C>T)
c.2129C>T (p.Ser710Phe)
c.2249C>T (p.Ser750Phe)
c.2503C>T
c.1745C>T (p.Ser582Phe)
c.2126C>T (p.Ser709Phe)
c.1715C>T (p.Ser572Phe)
c.1868C>T (p.Ser623Phe)
n.2259C>T
n.2583C>T
n.2226C>T
 ClinVar dbSNP gnomAD v4
19g.11123284delCA645509294LDLRc.2509del (p.Arg837GlyfsTer14)
c.*320del (n.*320del)
c.2131del (p.Arg711GlyfsTer14)
c.2251del (p.Arg751GlyfsTer14)
c.2505del
c.1747del (p.Arg583GlyfsTer14)
c.2128del (p.Arg710GlyfsTer14)
c.1717del (p.Arg573GlyfsTer14)
c.1870del (p.Arg624GlyfsTer14)
n.2261del
n.2585del
n.2228del
 ClinVar dbSNP
19g.11123283C>ACA505486997LDLRc.2508C>A (p.Ser836=)
c.*319C>A (n.*319C>A)
c.2130C>A (p.Ser710=)
c.2250C>A (p.Ser750=)
c.2504C>A
c.1746C>A (p.Ser582=)
c.2127C>A (p.Ser709=)
c.1716C>A (p.Ser572=)
c.1869C>A (p.Ser623=)
n.2260C>A
n.2584C>A
n.2227C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123283C=CA2322777234LDLRc.2508C= (p.Ser836=)
c.*319C= (n.*319C=)
c.2130C= (p.Ser710=)
c.2250C= (p.Ser750=)
c.2504C=
c.1746C= (p.Ser582=)
c.2127C= (p.Ser709=)
c.1716C= (p.Ser572=)
c.1869C= (p.Ser623=)
n.2260C=
n.2584C=
n.2227C=
19g.11123283C>GCA505486998LDLRc.2508C>G (p.Ser836=)
c.*319C>G (n.*319C>G)
c.2130C>G (p.Ser710=)
c.2250C>G (p.Ser750=)
c.2504C>G
c.1746C>G (p.Ser582=)
c.2127C>G (p.Ser709=)
c.1716C>G (p.Ser572=)
c.1869C>G (p.Ser623=)
n.2260C>G
n.2584C>G
n.2227C>G
19g.11123283C>TCA505486999LDLRc.2508C>T (p.Ser836=)
c.*319C>T (n.*319C>T)
c.2130C>T (p.Ser710=)
c.2250C>T (p.Ser750=)
c.2504C>T
c.1746C>T (p.Ser582=)
c.2127C>T (p.Ser709=)
c.1716C>T (p.Ser572=)
c.1869C>T (p.Ser623=)
n.2260C>T
n.2584C>T
n.2227C>T
 ClinVar dbSNP
19g.11123284C>ACA505487001LDLRc.2509C>A (p.Arg837=)
c.*320C>A (n.*320C>A)
c.2131C>A (p.Arg711=)
c.2251C>A (p.Arg751=)
c.2505C>A
c.1747C>A (p.Arg583=)
c.2128C>A (p.Arg710=)
c.1717C>A (p.Arg573=)
c.1870C>A (p.Arg624=)
n.2261C>A
n.2585C>A
n.2228C>A
 COSMIC
19g.11123284C=CA2322777235LDLRc.2509C= (p.Arg837=)
c.*320C= (n.*320C=)
c.2131C= (p.Arg711=)
c.2251C= (p.Arg751=)
c.2505C=
c.1747C= (p.Arg583=)
c.2128C= (p.Arg710=)
c.1717C= (p.Arg573=)
c.1870C= (p.Arg624=)
n.2261C=
n.2585C=
n.2228C=
19g.11123284C>GCA404095339LDLRc.2509C>G (p.Arg837Gly)
c.*320C>G (n.*320C>G)
c.2131C>G (p.Arg711Gly)
c.2251C>G (p.Arg751Gly)
c.2505C>G
c.1747C>G (p.Arg583Gly)
c.2128C>G (p.Arg710Gly)
c.1717C>G (p.Arg573Gly)
c.1870C>G (p.Arg624Gly)
n.2261C>G
n.2585C>G
n.2228C>G
19g.11123284C>TCA039237LDLRc.2509C>T (p.Arg837Trp)
c.*320C>T (n.*320C>T)
c.2131C>T (p.Arg711Trp)
c.2251C>T (p.Arg751Trp)
c.2505C>T
c.1747C>T (p.Arg583Trp)
c.2128C>T (p.Arg710Trp)
c.1717C>T (p.Arg573Trp)
c.1870C>T (p.Arg624Trp)
n.2261C>T
n.2585C>T
n.2228C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123285G>ACA023654LDLRc.2510G>A (p.Arg837Gln)
c.*321G>A (n.*321G>A)
c.2132G>A (p.Arg711Gln)
c.2252G>A (p.Arg751Gln)
c.2506G>A
c.1748G>A (p.Arg583Gln)
c.2129G>A (p.Arg710Gln)
c.1718G>A (p.Arg573Gln)
c.1871G>A (p.Arg624Gln)
n.2262G>A
n.2586G>A
n.2229G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123285G>CCA404095348LDLRc.2510G>C (p.Arg837Pro)
c.*321G>C (n.*321G>C)
c.2132G>C (p.Arg711Pro)
c.2252G>C (p.Arg751Pro)
c.2506G>C
c.1748G>C (p.Arg583Pro)
c.2129G>C (p.Arg710Pro)
c.1718G>C (p.Arg573Pro)
c.1871G>C (p.Arg624Pro)
n.2262G>C
n.2586G>C
n.2229G>C
19g.11123285G=CA2322777236LDLRc.2510G= (p.Arg837=)
c.*321G= (n.*321G=)
c.2132G= (p.Arg711=)
c.2252G= (p.Arg751=)
c.2506G=
c.1748G= (p.Arg583=)
c.2129G= (p.Arg710=)
c.1718G= (p.Arg573=)
c.1871G= (p.Arg624=)
n.2262G=
n.2586G=
n.2229G=
19g.11123285G>TCA404095352LDLRc.2510G>T (p.Arg837Leu)
c.*321G>T (n.*321G>T)
c.2132G>T (p.Arg711Leu)
c.2252G>T (p.Arg751Leu)
c.2506G>T
c.1748G>T (p.Arg583Leu)
c.2129G>T (p.Arg710Leu)
c.1718G>T (p.Arg573Leu)
c.1871G>T (p.Arg624Leu)
n.2262G>T
n.2586G>T
n.2229G>T
19g.11123286_11123289dupCA16609821LDLRc.2511_2514dup (p.Pro839AlafsTer30)
c.*322_*325dup (n.*322_*325dup)
c.2133_2136dup (p.Pro713AlafsTer30)
c.2253_2256dup (p.Pro753AlafsTer30)
c.2507_2510dup
c.1749_1752dup (p.Pro585AlafsTer30)
c.2130_2133dup (p.Pro712AlafsTer30)
c.1719_1722dup (p.Pro575AlafsTer30)
c.2253_2256dup (p.Pro753AlafsTer?)
c.1872_1875dup (p.Pro626AlafsTer30)
n.2263_2266dup
n.2587_2590dup
n.2230_2233dup
 ClinVar dbSNP
19g.11123286G>ACA505487006LDLRc.2511G>A (p.Arg837=)
c.*322G>A (n.*322G>A)
c.2133G>A (p.Arg711=)
c.2253G>A (p.Arg751=)
c.2507G>A
c.1749G>A (p.Arg583=)
c.2130G>A (p.Arg710=)
c.1719G>A (p.Arg573=)
c.1872G>A (p.Arg624=)
n.2263G>A
n.2587G>A
n.2230G>A
 ClinVar dbSNP
19g.11123286G>CCA505487007LDLRc.2511G>C (p.Arg837=)
c.*322G>C (n.*322G>C)
c.2133G>C (p.Arg711=)
c.2253G>C (p.Arg751=)
c.2507G>C
c.1749G>C (p.Arg583=)
c.2130G>C (p.Arg710=)
c.1719G>C (p.Arg573=)
c.1872G>C (p.Arg624=)
n.2263G>C
n.2587G>C
n.2230G>C
19g.11123286G=CA2322777237LDLRc.2511G= (p.Arg837=)
c.*322G= (n.*322G=)
c.2133G= (p.Arg711=)
c.2253G= (p.Arg751=)
c.2507G=
c.1749G= (p.Arg583=)
c.2130G= (p.Arg710=)
c.1719G= (p.Arg573=)
c.1872G= (p.Arg624=)
n.2263G=
n.2587G=
n.2230G=
19g.11123286G>TCA505487010LDLRc.2511G>T (p.Arg837=)
c.*322G>T (n.*322G>T)
c.2133G>T (p.Arg711=)
c.2253G>T (p.Arg751=)
c.2507G>T
c.1749G>T (p.Arg583=)
c.2130G>T (p.Arg710=)
c.1719G>T (p.Arg573=)
c.1872G>T (p.Arg624=)
n.2263G>T
n.2587G>T
n.2230G>T
 ClinVar
19g.11123287C>ACA404095356LDLRc.2512C>A (p.Leu838Met)
c.*323C>A (n.*323C>A)
c.2134C>A (p.Leu712Met)
c.2254C>A (p.Leu752Met)
c.2508C>A
c.1750C>A (p.Leu584Met)
c.2131C>A (p.Leu711Met)
c.1720C>A (p.Leu574Met)
c.1873C>A (p.Leu625Met)
n.2264C>A
n.2588C>A
n.2231C>A
19g.11123287C>GCA404095359LDLRc.2512C>G (p.Leu838Val)
c.*323C>G (n.*323C>G)
c.2134C>G (p.Leu712Val)
c.2254C>G (p.Leu752Val)
c.2508C>G
c.1750C>G (p.Leu584Val)
c.2131C>G (p.Leu711Val)
c.1720C>G (p.Leu574Val)
c.1873C>G (p.Leu625Val)
n.2264C>G
n.2588C>G
n.2231C>G
19g.11123287C>TCA505487016LDLRc.2512C>T (p.Leu838=)
c.*323C>T (n.*323C>T)
c.2134C>T (p.Leu712=)
c.2254C>T (p.Leu752=)
c.2508C>T
c.1750C>T (p.Leu584=)
c.2131C>T (p.Leu711=)
c.1720C>T (p.Leu574=)
c.1873C>T (p.Leu625=)
n.2264C>T
n.2588C>T
n.2231C>T
19g.11123288T>ACA404095387LDLRc.2513T>A (p.Leu838Gln)
c.*324T>A (n.*324T>A)
c.2135T>A (p.Leu712Gln)
c.2255T>A (p.Leu752Gln)
c.2509T>A
c.1751T>A (p.Leu584Gln)
c.2132T>A (p.Leu711Gln)
c.1721T>A (p.Leu574Gln)
c.1874T>A (p.Leu625Gln)
n.2265T>A
n.2589T>A
n.2232T>A
19g.11123288T>CCA404095383LDLRc.2513T>C (p.Leu838Pro)
c.*324T>C (n.*324T>C)
c.2135T>C (p.Leu712Pro)
c.2255T>C (p.Leu752Pro)
c.2509T>C
c.1751T>C (p.Leu584Pro)
c.2132T>C (p.Leu711Pro)
c.1721T>C (p.Leu574Pro)
c.1874T>C (p.Leu625Pro)
n.2265T>C
n.2589T>C
n.2232T>C
19g.11123288T>GCA404095374LDLRc.2513T>G (p.Leu838Arg)
c.*324T>G (n.*324T>G)
c.2135T>G (p.Leu712Arg)
c.2255T>G (p.Leu752Arg)
c.2509T>G
c.1751T>G (p.Leu584Arg)
c.2132T>G (p.Leu711Arg)
c.1721T>G (p.Leu574Arg)
c.1874T>G (p.Leu625Arg)
n.2265T>G
n.2589T>G
n.2232T>G
19g.11123289G>ACA505487017LDLRc.2514G>A (p.Leu838=)
c.*325G>A (n.*325G>A)
c.2136G>A (p.Leu712=)
c.2256G>A (p.Leu752=)
c.2510G>A
c.1752G>A (p.Leu584=)
c.2133G>A (p.Leu711=)
c.1722G>A (p.Leu574=)
c.1875G>A (p.Leu625=)
n.2266G>A
n.2590G>A
n.2233G>A
19g.11123289G>CCA505487018LDLRc.2514G>C (p.Leu838=)
c.*325G>C (n.*325G>C)
c.2136G>C (p.Leu712=)
c.2256G>C (p.Leu752=)
c.2510G>C
c.1752G>C (p.Leu584=)
c.2133G>C (p.Leu711=)
c.1722G>C (p.Leu574=)
c.1875G>C (p.Leu625=)
n.2266G>C
n.2590G>C
n.2233G>C
19g.11123289G>TCA505487019LDLRc.2514G>T (p.Leu838=)
c.*325G>T (n.*325G>T)
c.2136G>T (p.Leu712=)
c.2256G>T (p.Leu752=)
c.2510G>T
c.1752G>T (p.Leu584=)
c.2133G>T (p.Leu711=)
c.1722G>T (p.Leu574=)
c.1875G>T (p.Leu625=)
n.2266G>T
n.2590G>T
n.2233G>T
19g.11123289dupCA2497030105LDLRc.2514dup (p.Pro839AlafsTer29)
c.*325dup (n.*325dup)
c.2136dup (p.Pro713AlafsTer29)
c.2256dup (p.Pro753AlafsTer29)
c.2510dup
c.1752dup (p.Pro585AlafsTer29)
c.2133dup (p.Pro712AlafsTer29)
c.1722dup (p.Pro575AlafsTer29)
c.2256dup (p.Pro753AlafsTer?)
c.1875dup (p.Pro626AlafsTer29)
n.2266dup
n.2590dup
n.2233dup
19g.11123290C>ACA404095394LDLRc.2515C>A (p.Pro839Thr)
c.*326C>A (n.*326C>A)
c.2137C>A (p.Pro713Thr)
c.2257C>A (p.Pro753Thr)
c.2511C>A
c.1753C>A (p.Pro585Thr)
c.2134C>A (p.Pro712Thr)
c.1723C>A (p.Pro575Thr)
c.1876C>A (p.Pro626Thr)
n.2267C>A
n.2591C>A
n.2234C>A
19g.11123290C>GCA404095396LDLRc.2515C>G (p.Pro839Ala)
c.*326C>G (n.*326C>G)
c.2137C>G (p.Pro713Ala)
c.2257C>G (p.Pro753Ala)
c.2511C>G
c.1753C>G (p.Pro585Ala)
c.2134C>G (p.Pro712Ala)
c.1723C>G (p.Pro575Ala)
c.1876C>G (p.Pro626Ala)
n.2267C>G
n.2591C>G
n.2234C>G
 gnomAD v4
19g.11123290C>TCA404095405LDLRc.2515C>T (p.Pro839Ser)
c.*326C>T (n.*326C>T)
c.2137C>T (p.Pro713Ser)
c.2257C>T (p.Pro753Ser)
c.2511C>T
c.1753C>T (p.Pro585Ser)
c.2134C>T (p.Pro712Ser)
c.1723C>T (p.Pro575Ser)
c.1876C>T (p.Pro626Ser)
n.2267C>T
n.2591C>T
n.2234C>T
 gnomAD v4
19g.11123291delCA2695238657LDLRc.2516del (p.Pro839LeufsTer12)
c.*327del (n.*327del)
c.2138del (p.Pro713LeufsTer12)
c.2258del (p.Pro753LeufsTer12)
c.2512del
c.1754del (p.Pro585LeufsTer12)
c.2135del (p.Pro712LeufsTer12)
c.1724del (p.Pro575LeufsTer12)
c.1877del (p.Pro626LeufsTer12)
n.2268del
n.2592del
n.2235del
19g.11123291C>ACA404095409LDLRc.2516C>A (p.Pro839His)
c.*327C>A (n.*327C>A)
c.2138C>A (p.Pro713His)
c.2258C>A (p.Pro753His)
c.2512C>A
c.1754C>A (p.Pro585His)
c.2135C>A (p.Pro712His)
c.1724C>A (p.Pro575His)
c.1877C>A (p.Pro626His)
n.2268C>A
n.2592C>A
n.2235C>A
19g.11123291C=CA2322777238LDLRc.2516C= (p.Pro839=)
c.*327C= (n.*327C=)
c.2138C= (p.Pro713=)
c.2258C= (p.Pro753=)
c.2512C=
c.1754C= (p.Pro585=)
c.2135C= (p.Pro712=)
c.1724C= (p.Pro575=)
c.1877C= (p.Pro626=)
n.2268C=
n.2592C=
n.2235C=
19g.11123291C>GCA404095414LDLRc.2516C>G (p.Pro839Arg)
c.*327C>G (n.*327C>G)
c.2138C>G (p.Pro713Arg)
c.2258C>G (p.Pro753Arg)
c.2512C>G
c.1754C>G (p.Pro585Arg)
c.2135C>G (p.Pro712Arg)
c.1724C>G (p.Pro575Arg)
c.1877C>G (p.Pro626Arg)
n.2268C>G
n.2592C>G
n.2235C>G
19g.11123291C>TCA404095418LDLRc.2516C>T (p.Pro839Leu)
c.*327C>T (n.*327C>T)
c.2138C>T (p.Pro713Leu)
c.2258C>T (p.Pro753Leu)
c.2512C>T
c.1754C>T (p.Pro585Leu)
c.2135C>T (p.Pro712Leu)
c.1724C>T (p.Pro575Leu)
c.1877C>T (p.Pro626Leu)
n.2268C>T
n.2592C>T
n.2235C>T
 dbSNP gnomAD v4
19g.11123292_11123297delCA2825002703LDLRc.2517_2522del (p.Gly840_Ala841del)
c.*328_*333del (n.*328_*333del)
c.2139_2144del (p.Gly714_Ala715del)
c.2259_2264del (p.Gly754_Ala755del)
c.2513_2518del
c.1755_1760del (p.Gly586_Ala587del)
c.2136_2141del (p.Gly713_Ala714del)
c.1725_1730del (p.Gly576_Ala577del)
c.1878_1883del (p.Gly627_Ala628del)
n.2269_2274del
n.2593_2598del
n.2236_2241del
 ClinVar
19g.11123292_11123310delCA913189007LDLRc.2517_2535del (p.Gly840ProfsTer5)
c.*328_*346del (n.*328_*346del)
c.2139_2157del (p.Gly714ProfsTer5)
c.2259_2277del (p.Gly754ProfsTer5)
c.2513_2531del
c.1755_1773del (p.Gly586ProfsTer5)
c.2136_2154del (p.Gly713ProfsTer5)
c.1725_1743del (p.Gly576ProfsTer5)
c.1878_1896del (p.Gly627ProfsTer5)
n.2269_2287del
n.2593_2611del
n.2236_2254del
 ClinVar gnomAD v4
19g.11123292T>ACA505487023LDLRc.2517T>A (p.Pro839=)
c.*328T>A (n.*328T>A)
c.2139T>A (p.Pro713=)
c.2259T>A (p.Pro753=)
c.2513T>A
c.1755T>A (p.Pro585=)
c.2136T>A (p.Pro712=)
c.1725T>A (p.Pro575=)
c.1878T>A (p.Pro626=)
n.2269T>A
n.2593T>A
n.2236T>A
19g.11123292T>CCA505487024LDLRc.2517T>C (p.Pro839=)
c.*328T>C (n.*328T>C)
c.2139T>C (p.Pro713=)
c.2259T>C (p.Pro753=)
c.2513T>C
c.1755T>C (p.Pro585=)
c.2136T>C (p.Pro712=)
c.1725T>C (p.Pro575=)
c.1878T>C (p.Pro626=)
n.2269T>C
n.2593T>C
n.2236T>C
19g.11123292T>GCA505487028LDLRc.2517T>G (p.Pro839=)
c.*328T>G (n.*328T>G)
c.2139T>G (p.Pro713=)
c.2259T>G (p.Pro753=)
c.2513T>G
c.1755T>G (p.Pro585=)
c.2136T>G (p.Pro712=)
c.1725T>G (p.Pro575=)
c.1878T>G (p.Pro626=)
n.2269T>G
n.2593T>G
n.2236T>G
19g.11123292dupCA645509295LDLRc.2517dup (p.Gly840TrpfsTer28)
c.*328dup (n.*328dup)
c.2139dup (p.Gly714TrpfsTer28)
c.2259dup (p.Gly754TrpfsTer28)
c.2513dup
c.1755dup (p.Gly586TrpfsTer28)
c.2136dup (p.Gly713TrpfsTer28)
c.1725dup (p.Gly576TrpfsTer28)
c.2259dup (p.Gly754TrpfsTer?)
c.1878dup (p.Gly627TrpfsTer28)
n.2269dup
n.2593dup
n.2236dup
 ClinVar dbSNP gnomAD v4
19g.11123292_11123293delinsTGCA2322777239LDLRc.2517_2518delinsTG (p.Pro839=)
c.*328_*329delinsTG (n.*328_*329delinsTG)
c.2139_2140delinsTG (p.Pro713=)
c.2259_2260delinsTG (p.Pro753=)
c.2513_2514delinsTG
c.1755_1756delinsTG (p.Pro585=)
c.2136_2137delinsTG (p.Pro712=)
c.1725_1726delinsTG (p.Pro575=)
c.1878_1879delinsTG (p.Pro626=)
n.2269_2270delinsTG
n.2593_2594delinsTG
n.2236_2237delinsTG
19g.11123293G>ACA404095424LDLRc.2518G>A (p.Gly840Arg)
c.*329G>A (n.*329G>A)
c.2140G>A (p.Gly714Arg)
c.2260G>A (p.Gly754Arg)
c.2514G>A
c.1756G>A (p.Gly586Arg)
c.2137G>A (p.Gly713Arg)
c.1726G>A (p.Gly576Arg)
c.1879G>A (p.Gly627Arg)
n.2270G>A
n.2594G>A
n.2237G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123293G>CCA404095426LDLRc.2518G>C (p.Gly840Arg)
c.*329G>C (n.*329G>C)
c.2140G>C (p.Gly714Arg)
c.2260G>C (p.Gly754Arg)
c.2514G>C
c.1756G>C (p.Gly586Arg)
c.2137G>C (p.Gly713Arg)
c.1726G>C (p.Gly576Arg)
c.1879G>C (p.Gly627Arg)
n.2270G>C
n.2594G>C
n.2237G>C
19g.11123293G=CA2322777240LDLRc.2518G= (p.Gly840=)
c.*329G= (n.*329G=)
c.2140G= (p.Gly714=)
c.2260G= (p.Gly754=)
c.2514G=
c.1756G= (p.Gly586=)
c.2137G= (p.Gly713=)
c.1726G= (p.Gly576=)
c.1879G= (p.Gly627=)
n.2270G=
n.2594G=
n.2237G=
19g.11123293G>TCA039272LDLRc.2518G>T (p.Gly840Trp)
c.*329G>T (n.*329G>T)
c.2140G>T (p.Gly714Trp)
c.2260G>T (p.Gly754Trp)
c.2514G>T
c.1756G>T (p.Gly586Trp)
c.2137G>T (p.Gly713Trp)
c.1726G>T (p.Gly576Trp)
c.1879G>T (p.Gly627Trp)
n.2270G>T
n.2594G>T
n.2237G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11123296delCA645509296LDLRc.2521del (p.Ala841ProfsTer10)
c.*332del (n.*332del)
c.2143del (p.Ala715ProfsTer10)
c.2263del (p.Ala755ProfsTer10)
c.2517del
c.1759del (p.Ala587ProfsTer10)
c.2140del (p.Ala714ProfsTer10)
c.1729del (p.Ala577ProfsTer10)
c.1882del (p.Ala628ProfsTer10)
n.2273del
n.2597del
n.2240del
 ClinVar dbSNP
19g.11123294G>ACA404095432LDLRc.2519G>A (p.Gly840Glu)
c.*330G>A (n.*330G>A)
c.2141G>A (p.Gly714Glu)
c.2261G>A (p.Gly754Glu)
c.2515G>A
c.1757G>A (p.Gly586Glu)
c.2138G>A (p.Gly713Glu)
c.1727G>A (p.Gly576Glu)
c.1880G>A (p.Gly627Glu)
n.2271G>A
n.2595G>A
n.2238G>A
19g.11123294G>CCA404095437LDLRc.2519G>C (p.Gly840Ala)
c.*330G>C (n.*330G>C)
c.2141G>C (p.Gly714Ala)
c.2261G>C (p.Gly754Ala)
c.2515G>C
c.1757G>C (p.Gly586Ala)
c.2138G>C (p.Gly713Ala)
c.1727G>C (p.Gly576Ala)
c.1880G>C (p.Gly627Ala)
n.2271G>C
n.2595G>C
n.2238G>C
19g.11123294G>TCA404095454LDLRc.2519G>T (p.Gly840Val)
c.*330G>T (n.*330G>T)
c.2141G>T (p.Gly714Val)
c.2261G>T (p.Gly754Val)
c.2515G>T
c.1757G>T (p.Gly586Val)
c.2138G>T (p.Gly713Val)
c.1727G>T (p.Gly576Val)
c.1880G>T (p.Gly627Val)
n.2271G>T
n.2595G>T
n.2238G>T
 gnomAD v4
19g.11123294_11123304delinsGGGCCACCCCTCA2322777241LDLRc.2519_2529delinsGGGCCACCCCT (p.Gly840=)
c.*330_*340delinsGGGCCACCCCT (n.*330_*340delinsGGGCCACCCCT)
c.2141_2151delinsGGGCCACCCCT (p.Gly714=)
c.2261_2271delinsGGGCCACCCCT (p.Gly754=)
c.2515_2525delinsGGGCCACCCCT
c.1757_1767delinsGGGCCACCCCT (p.Gly586=)
c.2138_2148delinsGGGCCACCCCT (p.Gly713=)
c.1727_1737delinsGGGCCACCCCT (p.Gly576=)
c.1880_1890delinsGGGCCACCCCT (p.Gly627=)
n.2271_2281delinsGGGCCACCCCT
n.2595_2605delinsGGGCCACCCCT
n.2238_2248delinsGGGCCACCCCT
19g.11123295G>ACA505487033LDLRc.2520G>A (p.Gly840=)
c.*331G>A (n.*331G>A)
c.2142G>A (p.Gly714=)
c.2262G>A (p.Gly754=)
c.2516G>A
c.1758G>A (p.Gly586=)
c.2139G>A (p.Gly713=)
c.1728G>A (p.Gly576=)
c.1881G>A (p.Gly627=)
n.2272G>A
n.2596G>A
n.2239G>A
19g.11123295G>CCA505487035LDLRc.2520G>C (p.Gly840=)
c.*331G>C (n.*331G>C)
c.2142G>C (p.Gly714=)
c.2262G>C (p.Gly754=)
c.2516G>C
c.1758G>C (p.Gly586=)
c.2139G>C (p.Gly713=)
c.1728G>C (p.Gly576=)
c.1881G>C (p.Gly627=)
n.2272G>C
n.2596G>C
n.2239G>C
 ClinVar
19g.11123295G>TCA505487036LDLRc.2520G>T (p.Gly840=)
c.*331G>T (n.*331G>T)
c.2142G>T (p.Gly714=)
c.2262G>T (p.Gly754=)
c.2516G>T
c.1758G>T (p.Gly586=)
c.2139G>T (p.Gly713=)
c.1728G>T (p.Gly576=)
c.1881G>T (p.Gly627=)
n.2272G>T
n.2596G>T
n.2239G>T
19g.11123297_11123306delCA10585812LDLRc.2522_2531del (p.Ala841GlyfsTer7)
c.*333_*342del (n.*333_*342del)
c.2144_2153del (p.Ala715GlyfsTer7)
c.2264_2273del (p.Ala755GlyfsTer7)
c.2518_2527del
c.1760_1769del (p.Ala587GlyfsTer7)
c.2141_2150del (p.Ala714GlyfsTer7)
c.1730_1739del (p.Ala577GlyfsTer7)
c.1883_1892del (p.Ala628GlyfsTer7)
n.2274_2283del
n.2598_2607del
n.2241_2250del
 ClinVar dbSNP
19g.11123296G>ACA404095469LDLRc.2521G>A (p.Ala841Thr)
c.*332G>A (n.*332G>A)
c.2143G>A (p.Ala715Thr)
c.2263G>A (p.Ala755Thr)
c.2517G>A
c.1759G>A (p.Ala587Thr)
c.2140G>A (p.Ala714Thr)
c.1729G>A (p.Ala577Thr)
c.1882G>A (p.Ala628Thr)
n.2273G>A
n.2597G>A
n.2240G>A
19g.11123296G>CCA404095464LDLRc.2521G>C (p.Ala841Pro)
c.*332G>C (n.*332G>C)
c.2143G>C (p.Ala715Pro)
c.2263G>C (p.Ala755Pro)
c.2517G>C
c.1759G>C (p.Ala587Pro)
c.2140G>C (p.Ala714Pro)
c.1729G>C (p.Ala577Pro)
c.1882G>C (p.Ala628Pro)
n.2273G>C
n.2597G>C
n.2240G>C
19g.11123296G>TCA404095461LDLRc.2521G>T (p.Ala841Ser)
c.*332G>T (n.*332G>T)
c.2143G>T (p.Ala715Ser)
c.2263G>T (p.Ala755Ser)
c.2517G>T
c.1759G>T (p.Ala587Ser)
c.2140G>T (p.Ala714Ser)
c.1729G>T (p.Ala577Ser)
c.1882G>T (p.Ala628Ser)
n.2273G>T
n.2597G>T
n.2240G>T
19g.11123297C>ACA404095473LDLRc.2522C>A (p.Ala841Asp)
c.*333C>A (n.*333C>A)
c.2144C>A (p.Ala715Asp)
c.2264C>A (p.Ala755Asp)
c.2518C>A
c.1760C>A (p.Ala587Asp)
c.2141C>A (p.Ala714Asp)
c.1730C>A (p.Ala577Asp)
c.1883C>A (p.Ala628Asp)
n.2274C>A
n.2598C>A
n.2241C>A
19g.11123297C>GCA404095477LDLRc.2522C>G (p.Ala841Gly)
c.*333C>G (n.*333C>G)
c.2144C>G (p.Ala715Gly)
c.2264C>G (p.Ala755Gly)
c.2518C>G
c.1760C>G (p.Ala587Gly)
c.2141C>G (p.Ala714Gly)
c.1730C>G (p.Ala577Gly)
c.1883C>G (p.Ala628Gly)
n.2274C>G
n.2598C>G
n.2241C>G
19g.11123297C>TCA404095480LDLRc.2522C>T (p.Ala841Val)
c.*333C>T (n.*333C>T)
c.2144C>T (p.Ala715Val)
c.2264C>T (p.Ala755Val)
c.2518C>T
c.1760C>T (p.Ala587Val)
c.2141C>T (p.Ala714Val)
c.1730C>T (p.Ala577Val)
c.1883C>T (p.Ala628Val)
n.2274C>T
n.2598C>T
n.2241C>T
19g.11123298C>ACA505487043LDLRc.2523C>A (p.Ala841=)
c.*334C>A (n.*334C>A)
c.2145C>A (p.Ala715=)
c.2265C>A (p.Ala755=)
c.2519C>A
c.1761C>A (p.Ala587=)
c.2142C>A (p.Ala714=)
c.1731C>A (p.Ala577=)
c.1884C>A (p.Ala628=)
n.2275C>A
n.2599C>A
n.2242C>A
19g.11123298C=CA2322777242LDLRc.2523C= (p.Ala841=)
c.*334C= (n.*334C=)
c.2145C= (p.Ala715=)
c.2265C= (p.Ala755=)
c.2519C=
c.1761C= (p.Ala587=)
c.2142C= (p.Ala714=)
c.1731C= (p.Ala577=)
c.1884C= (p.Ala628=)
n.2275C=
n.2599C=
n.2242C=
19g.11123298C>GCA505487046LDLRc.2523C>G (p.Ala841=)
c.*334C>G (n.*334C>G)
c.2145C>G (p.Ala715=)
c.2265C>G (p.Ala755=)
c.2519C>G
c.1761C>G (p.Ala587=)
c.2142C>G (p.Ala714=)
c.1731C>G (p.Ala577=)
c.1884C>G (p.Ala628=)
n.2275C>G
n.2599C>G
n.2242C>G
19g.11123298C>TCA039282LDLRc.2523C>T (p.Ala841=)
c.*334C>T (n.*334C>T)
c.2145C>T (p.Ala715=)
c.2265C>T (p.Ala755=)
c.2519C>T
c.1761C>T (p.Ala587=)
c.2142C>T (p.Ala714=)
c.1731C>T (p.Ala577=)
c.1884C>T (p.Ala628=)
n.2275C>T
n.2599C>T
n.2242C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123298_11123299delinsCACA2322777243LDLRc.2523_2524delinsCA (p.Ala841=)
c.*334_*335delinsCA (n.*334_*335delinsCA)
c.2145_2146delinsCA (p.Ala715=)
c.2265_2266delinsCA (p.Ala755=)
c.2519_2520delinsCA
c.1761_1762delinsCA (p.Ala587=)
c.2142_2143delinsCA (p.Ala714=)
c.1731_1732delinsCA (p.Ala577=)
c.1884_1885delinsCA (p.Ala628=)
n.2275_2276delinsCA
n.2599_2600delinsCA
n.2242_2243delinsCA
19g.11123299delCA10585813LDLRc.2524del (p.Thr842ProfsTer9)
c.*335del (n.*335del)
c.2146del (p.Thr716ProfsTer9)
c.2266del (p.Thr756ProfsTer9)
c.2520del
c.1762del (p.Thr588ProfsTer9)
c.2143del (p.Thr715ProfsTer9)
c.1732del (p.Thr578ProfsTer9)
c.1885del (p.Thr629ProfsTer9)
n.2276del
n.2600del
n.2243del
 ClinVar dbSNP
19g.11123299A>CCA404095497LDLRc.2524A>C (p.Thr842Pro)
c.*335A>C (n.*335A>C)
c.2146A>C (p.Thr716Pro)
c.2266A>C (p.Thr756Pro)
c.2520A>C
c.1762A>C (p.Thr588Pro)
c.2143A>C (p.Thr715Pro)
c.1732A>C (p.Thr578Pro)
c.1885A>C (p.Thr629Pro)
n.2276A>C
n.2600A>C
n.2243A>C
19g.11123299A>GCA404095501LDLRc.2524A>G (p.Thr842Ala)
c.*335A>G (n.*335A>G)
c.2146A>G (p.Thr716Ala)
c.2266A>G (p.Thr756Ala)
c.2520A>G
c.1762A>G (p.Thr588Ala)
c.2143A>G (p.Thr715Ala)
c.1732A>G (p.Thr578Ala)
c.1885A>G (p.Thr629Ala)
n.2276A>G
n.2600A>G
n.2243A>G
19g.11123299A>TCA404095505LDLRc.2524A>T (p.Thr842Ser)
c.*335A>T (n.*335A>T)
c.2146A>T (p.Thr716Ser)
c.2266A>T (p.Thr756Ser)
c.2520A>T
c.1762A>T (p.Thr588Ser)
c.2143A>T (p.Thr715Ser)
c.1732A>T (p.Thr578Ser)
c.1885A>T (p.Thr629Ser)
n.2276A>T
n.2600A>T
n.2243A>T
19g.11123299_11123300delinsACCA2322777244LDLRc.2524_2525delinsAC (p.Thr842=)
c.*335_*336delinsAC (n.*335_*336delinsAC)
c.2146_2147delinsAC (p.Thr716=)
c.2266_2267delinsAC (p.Thr756=)
c.2520_2521delinsAC
c.1762_1763delinsAC (p.Thr588=)
c.2143_2144delinsAC (p.Thr715=)
c.1732_1733delinsAC (p.Thr578=)
c.1885_1886delinsAC (p.Thr629=)
n.2276_2277delinsAC
n.2600_2601delinsAC
n.2243_2244delinsAC
19g.11123300C>ACA039298LDLRc.2525C>A (p.Thr842Asn)
c.*336C>A (n.*336C>A)
c.2147C>A (p.Thr716Asn)
c.2267C>A (p.Thr756Asn)
c.2521C>A
c.1763C>A (p.Thr588Asn)
c.2144C>A (p.Thr715Asn)
c.1733C>A (p.Thr578Asn)
c.1886C>A (p.Thr629Asn)
n.2277C>A
n.2601C>A
n.2244C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123300C=CA2322777245LDLRc.2525C= (p.Thr842=)
c.*336C= (n.*336C=)
c.2147C= (p.Thr716=)
c.2267C= (p.Thr756=)
c.2521C=
c.1763C= (p.Thr588=)
c.2144C= (p.Thr715=)
c.1733C= (p.Thr578=)
c.1886C= (p.Thr629=)
n.2277C=
n.2601C=
n.2244C=
19g.11123300C>GCA404095524LDLRc.2525C>G (p.Thr842Ser)
c.*336C>G (n.*336C>G)
c.2147C>G (p.Thr716Ser)
c.2267C>G (p.Thr756Ser)
c.2521C>G
c.1763C>G (p.Thr588Ser)
c.2144C>G (p.Thr715Ser)
c.1733C>G (p.Thr578Ser)
c.1886C>G (p.Thr629Ser)
n.2277C>G
n.2601C>G
n.2244C>G
19g.11123300C>TCA404095534LDLRc.2525C>T (p.Thr842Ile)
c.*336C>T (n.*336C>T)
c.2147C>T (p.Thr716Ile)
c.2267C>T (p.Thr756Ile)
c.2521C>T
c.1763C>T (p.Thr588Ile)
c.2144C>T (p.Thr715Ile)
c.1733C>T (p.Thr578Ile)
c.1886C>T (p.Thr629Ile)
n.2277C>T
n.2601C>T
n.2244C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.11123303delCA645373246LDLRc.2528del (p.Pro843LeufsTer8)
c.*339del (n.*339del)
c.2150del (p.Pro717LeufsTer8)
c.2270del (p.Pro757LeufsTer8)
c.2524del
c.1766del (p.Pro589LeufsTer8)
c.2147del (p.Pro716LeufsTer8)
c.1736del (p.Pro579LeufsTer8)
c.1889del (p.Pro630LeufsTer8)
n.2280del
n.2604del
n.2247del
 ClinVar dbSNP
19g.11123301C>ACA505487051LDLRc.2526C>A (p.Thr842=)
c.*337C>A (n.*337C>A)
c.2148C>A (p.Thr716=)
c.2268C>A (p.Thr756=)
c.2522C>A
c.1764C>A (p.Thr588=)
c.2145C>A (p.Thr715=)
c.1734C>A (p.Thr578=)
c.1887C>A (p.Thr629=)
n.2278C>A
n.2602C>A
n.2245C>A
19g.11123301C=CA2322777246LDLRc.2526C= (p.Thr842=)
c.*337C= (n.*337C=)
c.2148C= (p.Thr716=)
c.2268C= (p.Thr756=)
c.2522C=
c.1764C= (p.Thr588=)
c.2145C= (p.Thr715=)
c.1734C= (p.Thr578=)
c.1887C= (p.Thr629=)
n.2278C=
n.2602C=
n.2245C=
19g.11123301C>GCA505487052LDLRc.2526C>G (p.Thr842=)
c.*337C>G (n.*337C>G)
c.2148C>G (p.Thr716=)
c.2268C>G (p.Thr756=)
c.2522C>G
c.1764C>G (p.Thr588=)
c.2145C>G (p.Thr715=)
c.1734C>G (p.Thr578=)
c.1887C>G (p.Thr629=)
n.2278C>G
n.2602C>G
n.2245C>G
19g.11123301C>TCA505487053LDLRc.2526C>T (p.Thr842=)
c.*337C>T (n.*337C>T)
c.2148C>T (p.Thr716=)
c.2268C>T (p.Thr756=)
c.2522C>T
c.1764C>T (p.Thr588=)
c.2145C>T (p.Thr715=)
c.1734C>T (p.Thr578=)
c.1887C>T (p.Thr629=)
n.2278C>T
n.2602C>T
n.2245C>T
 ClinVar dbSNP gnomAD v4
19g.11123302C>ACA404095549LDLRc.2527C>A (p.Pro843Thr)
c.*338C>A (n.*338C>A)
c.2149C>A (p.Pro717Thr)
c.2269C>A (p.Pro757Thr)
c.2523C>A
c.1765C>A (p.Pro589Thr)
c.2146C>A (p.Pro716Thr)
c.1735C>A (p.Pro579Thr)
c.1888C>A (p.Pro630Thr)
n.2279C>A
n.2603C>A
n.2246C>A
19g.11123302C=CA2322777247LDLRc.2527C= (p.Pro843=)
c.*338C= (n.*338C=)
c.2149C= (p.Pro717=)
c.2269C= (p.Pro757=)
c.2523C=
c.1765C= (p.Pro589=)
c.2146C= (p.Pro716=)
c.1735C= (p.Pro579=)
c.1888C= (p.Pro630=)
n.2279C=
n.2603C=
n.2246C=
19g.11123302C>GCA404095547LDLRc.2527C>G (p.Pro843Ala)
c.*338C>G (n.*338C>G)
c.2149C>G (p.Pro717Ala)
c.2269C>G (p.Pro757Ala)
c.2523C>G
c.1765C>G (p.Pro589Ala)
c.2146C>G (p.Pro716Ala)
c.1735C>G (p.Pro579Ala)
c.1888C>G (p.Pro630Ala)
n.2279C>G
n.2603C>G
n.2246C>G
 ClinVar dbSNP
19g.11123302C>TCA404095537LDLRc.2527C>T (p.Pro843Ser)
c.*338C>T (n.*338C>T)
c.2149C>T (p.Pro717Ser)
c.2269C>T (p.Pro757Ser)
c.2523C>T
c.1765C>T (p.Pro589Ser)
c.2146C>T (p.Pro716Ser)
c.1735C>T (p.Pro579Ser)
c.1888C>T (p.Pro630Ser)
n.2279C>T
n.2603C>T
n.2246C>T
 gnomAD v4
19g.11123303C>ACA404095553LDLRc.2528C>A (p.Pro843His)
c.*339C>A (n.*339C>A)
c.2150C>A (p.Pro717His)
c.2270C>A (p.Pro757His)
c.2524C>A
c.1766C>A (p.Pro589His)
c.2147C>A (p.Pro716His)
c.1736C>A (p.Pro579His)
c.1889C>A (p.Pro630His)
n.2280C>A
n.2604C>A
n.2247C>A
19g.11123303C>GCA404095556LDLRc.2528C>G (p.Pro843Arg)
c.*339C>G (n.*339C>G)
c.2150C>G (p.Pro717Arg)
c.2270C>G (p.Pro757Arg)
c.2524C>G
c.1766C>G (p.Pro589Arg)
c.2147C>G (p.Pro716Arg)
c.1736C>G (p.Pro579Arg)
c.1889C>G (p.Pro630Arg)
n.2280C>G
n.2604C>G
n.2247C>G
 gnomAD v4
19g.11123303C>TCA404095554LDLRc.2528C>T (p.Pro843Leu)
c.*339C>T (n.*339C>T)
c.2150C>T (p.Pro717Leu)
c.2270C>T (p.Pro757Leu)
c.2524C>T
c.1766C>T (p.Pro589Leu)
c.2147C>T (p.Pro716Leu)
c.1736C>T (p.Pro579Leu)
c.1889C>T (p.Pro630Leu)
n.2280C>T
n.2604C>T
n.2247C>T
19g.11123303_11123304delinsCTCA2322777248LDLRc.2528_2529delinsCT (p.Pro843=)
c.*339_*340delinsCT (n.*339_*340delinsCT)
c.2150_2151delinsCT (p.Pro717=)
c.2270_2271delinsCT (p.Pro757=)
c.2524_2525delinsCT
c.1766_1767delinsCT (p.Pro589=)
c.2147_2148delinsCT (p.Pro716=)
c.1736_1737delinsCT (p.Pro579=)
c.1889_1890delinsCT (p.Pro630=)
n.2280_2281delinsCT
n.2604_2605delinsCT
n.2247_2248delinsCT
19g.11123304delCA10576331LDLRc.2529del (p.Leu845SerfsTer6)
c.*340del (n.*340del)
c.2151del (p.Leu719SerfsTer6)
c.2271del (p.Leu759SerfsTer6)
c.2525del
c.1767del (p.Leu591SerfsTer6)
c.2148del (p.Leu718SerfsTer6)
c.1737del (p.Leu581SerfsTer6)
c.1890del (p.Leu632SerfsTer6)
n.2281del
n.2605del
n.2248del
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11123304T>ACA505487058LDLRc.2529T>A (p.Pro843=)
c.*340T>A (n.*340T>A)
c.2151T>A (p.Pro717=)
c.2271T>A (p.Pro757=)
c.2525T>A
c.1767T>A (p.Pro589=)
c.2148T>A (p.Pro716=)
c.1737T>A (p.Pro579=)
c.1890T>A (p.Pro630=)
n.2281T>A
n.2605T>A
n.2248T>A
 gnomAD v4
19g.11123304T>CCA505487059LDLRc.2529T>C (p.Pro843=)
c.*340T>C (n.*340T>C)
c.2151T>C (p.Pro717=)
c.2271T>C (p.Pro757=)
c.2525T>C
c.1767T>C (p.Pro589=)
c.2148T>C (p.Pro716=)
c.1737T>C (p.Pro579=)
c.1890T>C (p.Pro630=)
n.2281T>C
n.2605T>C
n.2248T>C
19g.11123304T>GCA505487060LDLRc.2529T>G (p.Pro843=)
c.*340T>G (n.*340T>G)
c.2151T>G (p.Pro717=)
c.2271T>G (p.Pro757=)
c.2525T>G
c.1767T>G (p.Pro589=)
c.2148T>G (p.Pro716=)
c.1737T>G (p.Pro579=)
c.1890T>G (p.Pro630=)
n.2281T>G
n.2605T>G
n.2248T>G
19g.11123304_11123305delinsTGCA2322777249LDLRc.2529_2530delinsTG (p.Pro843=)
c.*340_*341delinsTG (n.*340_*341delinsTG)
c.2151_2152delinsTG (p.Pro717=)
c.2271_2272delinsTG (p.Pro757=)
c.2525_2526delinsTG
c.1767_1768delinsTG (p.Pro589=)
c.2148_2149delinsTG (p.Pro716=)
c.1737_1738delinsTG (p.Pro579=)
c.1890_1891delinsTG (p.Pro630=)
n.2281_2282delinsTG
n.2605_2606delinsTG
n.2248_2249delinsTG
19g.11123305G>ACA404095585LDLRc.2530G>A (p.Gly844Arg)
c.*341G>A (n.*341G>A)
c.2152G>A (p.Gly718Arg)
c.2272G>A (p.Gly758Arg)
c.2526G>A
c.1768G>A (p.Gly590Arg)
c.2149G>A (p.Gly717Arg)
c.1738G>A (p.Gly580Arg)
c.1891G>A (p.Gly631Arg)
n.2282G>A
n.2606G>A
n.2249G>A
19g.11123305G>CCA404095571LDLRc.2530G>C (p.Gly844Arg)
c.*341G>C (n.*341G>C)
c.2152G>C (p.Gly718Arg)
c.2272G>C (p.Gly758Arg)
c.2526G>C
c.1768G>C (p.Gly590Arg)
c.2149G>C (p.Gly717Arg)
c.1738G>C (p.Gly580Arg)
c.1891G>C (p.Gly631Arg)
n.2282G>C
n.2606G>C
n.2249G>C
19g.11123305G>TCA404095583LDLRc.2530G>T (p.Gly844Trp)
c.*341G>T (n.*341G>T)
c.2152G>T (p.Gly718Trp)
c.2272G>T (p.Gly758Trp)
c.2526G>T
c.1768G>T (p.Gly590Trp)
c.2149G>T (p.Gly717Trp)
c.1738G>T (p.Gly580Trp)
c.1891G>T (p.Gly631Trp)
n.2282G>T
n.2606G>T
n.2249G>T
19g.11123307delCA645509297LDLRc.2532del (p.Leu845SerfsTer6)
c.*343del (n.*343del)
c.2154del (p.Leu719SerfsTer6)
c.2274del (p.Leu759SerfsTer6)
c.2528del
c.1770del (p.Leu591SerfsTer6)
c.2151del (p.Leu718SerfsTer6)
c.1740del (p.Leu581SerfsTer6)
c.1893del (p.Leu632SerfsTer6)
n.2284del
n.2608del
n.2251del
 ClinVar dbSNP
19g.11123306G>ACA404095589LDLRc.2531G>A (p.Gly844Glu)
c.*342G>A (n.*342G>A)
c.2153G>A (p.Gly718Glu)
c.2273G>A (p.Gly758Glu)
c.2527G>A
c.1769G>A (p.Gly590Glu)
c.2150G>A (p.Gly717Glu)
c.1739G>A (p.Gly580Glu)
c.1892G>A (p.Gly631Glu)
n.2283G>A
n.2607G>A
n.2250G>A
 ClinVar dbSNP gnomAD v4
19g.11123306G>CCA039308LDLRc.2531G>C (p.Gly844Ala)
c.*342G>C (n.*342G>C)
c.2153G>C (p.Gly718Ala)
c.2273G>C (p.Gly758Ala)
c.2527G>C
c.1769G>C (p.Gly590Ala)
c.2150G>C (p.Gly717Ala)
c.1739G>C (p.Gly580Ala)
c.1892G>C (p.Gly631Ala)
n.2283G>C
n.2607G>C
n.2250G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123306G=CA2322777250LDLRc.2531G= (p.Gly844=)
c.*342G= (n.*342G=)
c.2153G= (p.Gly718=)
c.2273G= (p.Gly758=)
c.2527G=
c.1769G= (p.Gly590=)
c.2150G= (p.Gly717=)
c.1739G= (p.Gly580=)
c.1892G= (p.Gly631=)
n.2283G=
n.2607G=
n.2250G=
19g.11123306G>TCA039316LDLRc.2531G>T (p.Gly844Val)
c.*342G>T (n.*342G>T)
c.2153G>T (p.Gly718Val)
c.2273G>T (p.Gly758Val)
c.2527G>T
c.1769G>T (p.Gly590Val)
c.2150G>T (p.Gly717Val)
c.1739G>T (p.Gly580Val)
c.1892G>T (p.Gly631Val)
n.2283G>T
n.2607G>T
n.2250G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123307G>ACA505487065LDLRc.2532G>A (p.Gly844=)
c.*343G>A (n.*343G>A)
c.2154G>A (p.Gly718=)
c.2274G>A (p.Gly758=)
c.2528G>A
c.1770G>A (p.Gly590=)
c.2151G>A (p.Gly717=)
c.1740G>A (p.Gly580=)
c.1893G>A (p.Gly631=)
n.2284G>A
n.2608G>A
n.2251G>A
 ClinVar dbSNP
19g.11123307G>CCA505487067LDLRc.2532G>C (p.Gly844=)
c.*343G>C (n.*343G>C)
c.2154G>C (p.Gly718=)
c.2274G>C (p.Gly758=)
c.2528G>C
c.1770G>C (p.Gly590=)
c.2151G>C (p.Gly717=)
c.1740G>C (p.Gly580=)
c.1893G>C (p.Gly631=)
n.2284G>C
n.2608G>C
n.2251G>C
19g.11123307G>TCA505487069LDLRc.2532G>T (p.Gly844=)
c.*343G>T (n.*343G>T)
c.2154G>T (p.Gly718=)
c.2274G>T (p.Gly758=)
c.2528G>T
c.1770G>T (p.Gly590=)
c.2151G>T (p.Gly717=)
c.1740G>T (p.Gly580=)
c.1893G>T (p.Gly631=)
n.2284G>T
n.2608G>T
n.2251G>T
19g.11123307_11123335delinsGCTCACCACGGTGGAGATAGTGACAATGTCA2322777251LDLRc.2532_2560delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly844=)
c.*343_*371delinsGCTCACCACGGTGGAGATAGTGACAATGT (n.*343_*371delinsGCTCACCACGGTGGAGATAGTGACAATGT)
c.2154_2182delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly718=)
c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly758=)
c.2528_2556delinsGCTCACCACGGTGGAGATAGTGACAATGT
c.1770_1798delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly590=)
c.2151_2179delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly717=)
c.1740_1768delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly580=)
c.1893_1921delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly631=)
n.2284_2312delinsGCTCACCACGGTGGAGATAGTGACAATGT
n.2608_2636delinsGCTCACCACGGTGGAGATAGTGACAATGT
n.2251_2279delinsGCTCACCACGGTGGAGATAGTGACAATGT
19g.11123308C>ACA404095591LDLRc.2533C>A (p.Leu845Ile)
c.*344C>A (n.*344C>A)
c.2155C>A (p.Leu719Ile)
c.2275C>A (p.Leu759Ile)
c.2529C>A
c.1771C>A (p.Leu591Ile)
c.2152C>A (p.Leu718Ile)
c.1741C>A (p.Leu581Ile)
c.1894C>A (p.Leu632Ile)
n.2285C>A
n.2609C>A
n.2252C>A
19g.11123308C>GCA404095593LDLRc.2533C>G (p.Leu845Val)
c.*344C>G (n.*344C>G)
c.2155C>G (p.Leu719Val)
c.2275C>G (p.Leu759Val)
c.2529C>G
c.1771C>G (p.Leu591Val)
c.2152C>G (p.Leu718Val)
c.1741C>G (p.Leu581Val)
c.1894C>G (p.Leu632Val)
n.2285C>G
n.2609C>G
n.2252C>G
19g.11123308C>TCA404095598LDLRc.2533C>T (p.Leu845Phe)
c.*344C>T (n.*344C>T)
c.2155C>T (p.Leu719Phe)
c.2275C>T (p.Leu759Phe)
c.2529C>T
c.1771C>T (p.Leu591Phe)
c.2152C>T (p.Leu718Phe)
c.1741C>T (p.Leu581Phe)
c.1894C>T (p.Leu632Phe)
n.2285C>T
n.2609C>T
n.2252C>T
19g.11123315_11123342dupCA2573156030LDLRc.2540_2567dup (p.Gln856HisfsTer21)
c.*351_*378dup (n.*351_*378dup)
c.2162_2189dup (p.Gln730HisfsTer21)
c.2282_2309dup (p.Gln770HisfsTer21)
c.2536_2563dup
c.1778_1805dup (p.Gln602HisfsTer21)
c.2159_2186dup (p.Gln729HisfsTer21)
c.1748_1775dup (p.Gln592HisfsTer21)
c.2282_2309dup (p.Gln770HisfsTer30)
c.1901_1928dup (p.Gln643HisfsTer21)
n.2292_2319dup
n.2616_2643dup
n.2259_2286dup
 ClinVar dbSNP
19g.11123315_11123342delCA658653855LDLRc.2540_2567del (p.Thr847LysfsTer18)
c.*351_*378del (n.*351_*378del)
c.2162_2189del (p.Thr721LysfsTer18)
c.2282_2309del (p.Thr761LysfsTer18)
c.2536_2563del
c.1778_1805del (p.Thr593LysfsTer18)
c.2159_2186del (p.Thr720LysfsTer18)
c.1748_1775del (p.Thr583LysfsTer18)
c.2282_2309del (p.Thr761LysfsTer?)
c.1901_1928del (p.Thr634LysfsTer18)
n.2292_2319del
n.2616_2643del
n.2259_2286del
 ClinVar dbSNP
19g.11123309T>ACA404095623LDLRc.2534T>A (p.Leu845His)
c.*345T>A (n.*345T>A)
c.2156T>A (p.Leu719His)
c.2276T>A (p.Leu759His)
c.2530T>A
c.1772T>A (p.Leu591His)
c.2153T>A (p.Leu718His)
c.1742T>A (p.Leu581His)
c.1895T>A (p.Leu632His)
n.2286T>A
n.2610T>A
n.2253T>A
19g.11123309T>CCA039330LDLRc.2534T>C (p.Leu845Pro)
c.*345T>C (n.*345T>C)
c.2156T>C (p.Leu719Pro)
c.2276T>C (p.Leu759Pro)
c.2530T>C
c.1772T>C (p.Leu591Pro)
c.2153T>C (p.Leu718Pro)
c.1742T>C (p.Leu581Pro)
c.1895T>C (p.Leu632Pro)
n.2286T>C
n.2610T>C
n.2253T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123309T>GCA404095629LDLRc.2534T>G (p.Leu845Arg)
c.*345T>G (n.*345T>G)
c.2156T>G (p.Leu719Arg)
c.2276T>G (p.Leu759Arg)
c.2530T>G
c.1772T>G (p.Leu591Arg)
c.2153T>G (p.Leu718Arg)
c.1742T>G (p.Leu581Arg)
c.1895T>G (p.Leu632Arg)
n.2286T>G
n.2610T>G
n.2253T>G
19g.11123309T=CA2322777252LDLRc.2534T= (p.Leu845=)
c.*345T= (n.*345T=)
c.2156T= (p.Leu719=)
c.2276T= (p.Leu759=)
c.2530T=
c.1772T= (p.Leu591=)
c.2153T= (p.Leu718=)
c.1742T= (p.Leu581=)
c.1895T= (p.Leu632=)
n.2286T=
n.2610T=
n.2253T=
19g.11123310C>ACA505487071LDLRc.2535C>A (p.Leu845=)
c.*346C>A (n.*346C>A)
c.2157C>A (p.Leu719=)
c.2277C>A (p.Leu759=)
c.2531C>A
c.1773C>A (p.Leu591=)
c.2154C>A (p.Leu718=)
c.1743C>A (p.Leu581=)
c.1896C>A (p.Leu632=)
n.2287C>A
n.2611C>A
n.2254C>A
19g.11123310C=CA2322777253LDLRc.2535C= (p.Leu845=)
c.*346C= (n.*346C=)
c.2157C= (p.Leu719=)
c.2277C= (p.Leu759=)
c.2531C=
c.1773C= (p.Leu591=)
c.2154C= (p.Leu718=)
c.1743C= (p.Leu581=)
c.1896C= (p.Leu632=)
n.2287C=
n.2611C=
n.2254C=
19g.11123310C>GCA505487073LDLRc.2535C>G (p.Leu845=)
c.*346C>G (n.*346C>G)
c.2157C>G (p.Leu719=)
c.2277C>G (p.Leu759=)
c.2531C>G
c.1773C>G (p.Leu591=)
c.2154C>G (p.Leu718=)
c.1743C>G (p.Leu581=)
c.1896C>G (p.Leu632=)
n.2287C>G
n.2611C>G
n.2254C>G
19g.11123310C>TCA305305194LDLRc.2535C>T (p.Leu845=)
c.*346C>T (n.*346C>T)
c.2157C>T (p.Leu719=)
c.2277C>T (p.Leu759=)
c.2531C>T
c.1773C>T (p.Leu591=)
c.2154C>T (p.Leu718=)
c.1743C>T (p.Leu581=)
c.1896C>T (p.Leu632=)
n.2287C>T
n.2611C>T
n.2254C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11123311A>CCA404095638LDLRc.2536A>C (p.Thr846Pro)
c.*347A>C (n.*347A>C)
c.2158A>C (p.Thr720Pro)
c.2278A>C (p.Thr760Pro)
c.2532A>C
c.1774A>C (p.Thr592Pro)
c.2155A>C (p.Thr719Pro)
c.1744A>C (p.Thr582Pro)
c.1897A>C (p.Thr633Pro)
n.2288A>C
n.2612A>C
n.2255A>C
19g.11123311A>GCA404095643LDLRc.2536A>G (p.Thr846Ala)
c.*347A>G (n.*347A>G)
c.2158A>G (p.Thr720Ala)
c.2278A>G (p.Thr760Ala)
c.2532A>G
c.1774A>G (p.Thr592Ala)
c.2155A>G (p.Thr719Ala)
c.1744A>G (p.Thr582Ala)
c.1897A>G (p.Thr633Ala)
n.2288A>G
n.2612A>G
n.2255A>G
19g.11123311A>TCA404095641LDLRc.2536A>T (p.Thr846Ser)
c.*347A>T (n.*347A>T)
c.2158A>T (p.Thr720Ser)
c.2278A>T (p.Thr760Ser)
c.2532A>T
c.1774A>T (p.Thr592Ser)
c.2155A>T (p.Thr719Ser)
c.1744A>T (p.Thr582Ser)
c.1897A>T (p.Thr633Ser)
n.2288A>T
n.2612A>T
n.2255A>T
19g.11123312C>ACA404095647LDLRc.2537C>A (p.Thr846Asn)
c.*348C>A (n.*348C>A)
c.2159C>A (p.Thr720Asn)
c.2279C>A (p.Thr760Asn)
c.2533C>A
c.1775C>A (p.Thr592Asn)
c.2156C>A (p.Thr719Asn)
c.1745C>A (p.Thr582Asn)
c.1898C>A (p.Thr633Asn)
n.2289C>A
n.2613C>A
n.2256C>A
19g.11123312C=CA2322777254LDLRc.2537C= (p.Thr846=)
c.*348C= (n.*348C=)
c.2159C= (p.Thr720=)
c.2279C= (p.Thr760=)
c.2533C=
c.1775C= (p.Thr592=)
c.2156C= (p.Thr719=)
c.1745C= (p.Thr582=)
c.1898C= (p.Thr633=)
n.2289C=
n.2613C=
n.2256C=
19g.11123312C>GCA404095648LDLRc.2537C>G (p.Thr846Ser)
c.*348C>G (n.*348C>G)
c.2159C>G (p.Thr720Ser)
c.2279C>G (p.Thr760Ser)
c.2533C>G
c.1775C>G (p.Thr592Ser)
c.2156C>G (p.Thr719Ser)
c.1745C>G (p.Thr582Ser)
c.1898C>G (p.Thr633Ser)
n.2289C>G
n.2613C>G
n.2256C>G
 gnomAD v4
19g.11123312C>TCA404095651LDLRc.2537C>T (p.Thr846Ile)
c.*348C>T (n.*348C>T)
c.2159C>T (p.Thr720Ile)
c.2279C>T (p.Thr760Ile)
c.2533C>T
c.1775C>T (p.Thr592Ile)
c.2156C>T (p.Thr719Ile)
c.1745C>T (p.Thr582Ile)
c.1898C>T (p.Thr633Ile)
n.2289C>T
n.2613C>T
n.2256C>T
 ClinVar dbSNP
19g.11123313C>ACA505487079LDLRc.2538C>A (p.Thr846=)
c.*349C>A (n.*349C>A)
c.2160C>A (p.Thr720=)
c.2280C>A (p.Thr760=)
c.2534C>A
c.1776C>A (p.Thr592=)
c.2157C>A (p.Thr719=)
c.1746C>A (p.Thr582=)
c.1899C>A (p.Thr633=)
n.2290C>A
n.2614C>A
n.2257C>A
19g.11123313C>GCA505487078LDLRc.2538C>G (p.Thr846=)
c.*349C>G (n.*349C>G)
c.2160C>G (p.Thr720=)
c.2280C>G (p.Thr760=)
c.2534C>G
c.1776C>G (p.Thr592=)
c.2157C>G (p.Thr719=)
c.1746C>G (p.Thr582=)
c.1899C>G (p.Thr633=)
n.2290C>G
n.2614C>G
n.2257C>G
 gnomAD v4
19g.11123313C>TCA505487075LDLRc.2538C>T (p.Thr846=)
c.*349C>T (n.*349C>T)
c.2160C>T (p.Thr720=)
c.2280C>T (p.Thr760=)
c.2534C>T
c.1776C>T (p.Thr592=)
c.2157C>T (p.Thr719=)
c.1746C>T (p.Thr582=)
c.1899C>T (p.Thr633=)
n.2290C>T
n.2614C>T
n.2257C>T
19g.11123314A=CA2322777255LDLRc.2539A= (p.Thr847=)
c.*350A= (n.*350A=)
c.2161A= (p.Thr721=)
c.2281A= (p.Thr761=)
c.2535A=
c.1777A= (p.Thr593=)
c.2158A= (p.Thr720=)
c.1747A= (p.Thr583=)
c.1900A= (p.Thr634=)
n.2291A=
n.2615A=
n.2258A=
19g.11123314A>CCA404095655LDLRc.2539A>C (p.Thr847Pro)
c.*350A>C (n.*350A>C)
c.2161A>C (p.Thr721Pro)
c.2281A>C (p.Thr761Pro)
c.2535A>C
c.1777A>C (p.Thr593Pro)
c.2158A>C (p.Thr720Pro)
c.1747A>C (p.Thr583Pro)
c.1900A>C (p.Thr634Pro)
n.2291A>C
n.2615A>C
n.2258A>C
19g.11123314A>GCA404095657LDLRc.2539A>G (p.Thr847Ala)
c.*350A>G (n.*350A>G)
c.2161A>G (p.Thr721Ala)
c.2281A>G (p.Thr761Ala)
c.2535A>G
c.1777A>G (p.Thr593Ala)
c.2158A>G (p.Thr720Ala)
c.1747A>G (p.Thr583Ala)
c.1900A>G (p.Thr634Ala)
n.2291A>G
n.2615A>G
n.2258A>G
19g.11123314A>TCA404095662LDLRc.2539A>T (p.Thr847Ser)
c.*350A>T (n.*350A>T)
c.2161A>T (p.Thr721Ser)
c.2281A>T (p.Thr761Ser)
c.2535A>T
c.1777A>T (p.Thr593Ser)
c.2158A>T (p.Thr720Ser)
c.1747A>T (p.Thr583Ser)
c.1900A>T (p.Thr634Ser)
n.2291A>T
n.2615A>T
n.2258A>T
 dbSNP gnomAD v3 gnomAD v4
19g.11123315C>ACA404095668LDLRc.2540C>A (p.Thr847Lys)
c.*351C>A (n.*351C>A)
c.2162C>A (p.Thr721Lys)
c.2282C>A (p.Thr761Lys)
c.2536C>A
c.1778C>A (p.Thr593Lys)
c.2159C>A (p.Thr720Lys)
c.1748C>A (p.Thr583Lys)
c.1901C>A (p.Thr634Lys)
n.2292C>A
n.2616C>A
n.2259C>A
19g.11123315C=CA2322777256LDLRc.2540C= (p.Thr847=)
c.*351C= (n.*351C=)
c.2162C= (p.Thr721=)
c.2282C= (p.Thr761=)
c.2536C=
c.1778C= (p.Thr593=)
c.2159C= (p.Thr720=)
c.1748C= (p.Thr583=)
c.1901C= (p.Thr634=)
n.2292C=
n.2616C=
n.2259C=
19g.11123315C>GCA404095669LDLRc.2540C>G (p.Thr847Arg)
c.*351C>G (n.*351C>G)
c.2162C>G (p.Thr721Arg)
c.2282C>G (p.Thr761Arg)
c.2536C>G
c.1778C>G (p.Thr593Arg)
c.2159C>G (p.Thr720Arg)
c.1748C>G (p.Thr583Arg)
c.1901C>G (p.Thr634Arg)
n.2292C>G
n.2616C>G
n.2259C>G
19g.11123315C>TCA023656LDLRc.2540C>T (p.Thr847Met)
c.*351C>T (n.*351C>T)
c.2162C>T (p.Thr721Met)
c.2282C>T (p.Thr761Met)
c.2536C>T
c.1778C>T (p.Thr593Met)
c.2159C>T (p.Thr720Met)
c.1748C>T (p.Thr583Met)
c.1901C>T (p.Thr634Met)
n.2292C>T
n.2616C>T
n.2259C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123316G>ACA039355LDLRc.2541G>A (p.Thr847=)
c.*352G>A (n.*352G>A)
c.2163G>A (p.Thr721=)
c.2283G>A (p.Thr761=)
c.2537G>A
c.1779G>A (p.Thr593=)
c.2160G>A (p.Thr720=)
c.1749G>A (p.Thr583=)
c.1902G>A (p.Thr634=)
n.2293G>A
n.2617G>A
n.2260G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123316G>CCA505487085LDLRc.2541G>C (p.Thr847=)
c.*352G>C (n.*352G>C)
c.2163G>C (p.Thr721=)
c.2283G>C (p.Thr761=)
c.2537G>C
c.1779G>C (p.Thr593=)
c.2160G>C (p.Thr720=)
c.1749G>C (p.Thr583=)
c.1902G>C (p.Thr634=)
n.2293G>C
n.2617G>C
n.2260G>C
19g.11123316G=CA2322777257LDLRc.2541G= (p.Thr847=)
c.*352G= (n.*352G=)
c.2163G= (p.Thr721=)
c.2283G= (p.Thr761=)
c.2537G=
c.1779G= (p.Thr593=)
c.2160G= (p.Thr720=)
c.1749G= (p.Thr583=)
c.1902G= (p.Thr634=)
n.2293G=
n.2617G=
n.2260G=
19g.11123316G>TCA505487087LDLRc.2541G>T (p.Thr847=)
c.*352G>T (n.*352G>T)
c.2163G>T (p.Thr721=)
c.2283G>T (p.Thr761=)
c.2537G>T
c.1779G>T (p.Thr593=)
c.2160G>T (p.Thr720=)
c.1749G>T (p.Thr583=)
c.1902G>T (p.Thr634=)
n.2293G>T
n.2617G>T
n.2260G>T
19g.11123317delCA2695228318LDLRc.2542del (p.Val848TrpfsTer3)
c.*353del (n.*353del)
c.2164del (p.Val722TrpfsTer3)
c.2284del (p.Val762TrpfsTer3)
c.2538del
c.1780del (p.Val594TrpfsTer3)
c.2161del (p.Val721TrpfsTer3)
c.1750del (p.Val584TrpfsTer3)
c.1903del (p.Val635TrpfsTer3)
n.2294del
n.2618del
n.2261del
19g.11123317_11123322delCA2582475492LDLRc.2542_2547del (p.Val848_Glu849del)
c.*353_*358del (n.*353_*358del)
c.2164_2169del (p.Val722_Glu723del)
c.2284_2289del (p.Val762_Glu763del)
c.2538_2543del
c.1780_1785del (p.Val594_Glu595del)
c.2161_2166del (p.Val721_Glu722del)
c.1750_1755del (p.Val584_Glu585del)
c.1903_1908del (p.Val635_Glu636del)
n.2294_2299del
n.2618_2623del
n.2261_2266del
 gnomAD v4
19g.11123317G>ACA404095682LDLRc.2542G>A (p.Val848Met)
c.*353G>A (n.*353G>A)
c.2164G>A (p.Val722Met)
c.2284G>A (p.Val762Met)
c.2538G>A
c.1780G>A (p.Val594Met)
c.2161G>A (p.Val721Met)
c.1750G>A (p.Val584Met)
c.1903G>A (p.Val635Met)
n.2294G>A
n.2618G>A
n.2261G>A
19g.11123317G>CCA404095686LDLRc.2542G>C (p.Val848Leu)
c.*353G>C (n.*353G>C)
c.2164G>C (p.Val722Leu)
c.2284G>C (p.Val762Leu)
c.2538G>C
c.1780G>C (p.Val594Leu)
c.2161G>C (p.Val721Leu)
c.1750G>C (p.Val584Leu)
c.1903G>C (p.Val635Leu)
n.2294G>C
n.2618G>C
n.2261G>C
19g.11123317G>TCA404095680LDLRc.2542G>T (p.Val848Leu)
c.*353G>T (n.*353G>T)
c.2164G>T (p.Val722Leu)
c.2284G>T (p.Val762Leu)
c.2538G>T
c.1780G>T (p.Val594Leu)
c.2161G>T (p.Val721Leu)
c.1750G>T (p.Val584Leu)
c.1903G>T (p.Val635Leu)
n.2294G>T
n.2618G>T
n.2261G>T
19g.11123318T>ACA404095694LDLRc.2543T>A (p.Val848Glu)
c.*354T>A (n.*354T>A)
c.2165T>A (p.Val722Glu)
c.2285T>A (p.Val762Glu)
c.2539T>A
c.1781T>A (p.Val594Glu)
c.2162T>A (p.Val721Glu)
c.1751T>A (p.Val584Glu)
c.1904T>A (p.Val635Glu)
n.2295T>A
n.2619T>A
n.2262T>A
19g.11123318T>CCA404095697LDLRc.2543T>C (p.Val848Ala)
c.*354T>C (n.*354T>C)
c.2165T>C (p.Val722Ala)
c.2285T>C (p.Val762Ala)
c.2539T>C
c.1781T>C (p.Val594Ala)
c.2162T>C (p.Val721Ala)
c.1751T>C (p.Val584Ala)
c.1904T>C (p.Val635Ala)
n.2295T>C
n.2619T>C
n.2262T>C
19g.11123318T>GCA404095698LDLRc.2543T>G (p.Val848Gly)
c.*354T>G (n.*354T>G)
c.2165T>G (p.Val722Gly)
c.2285T>G (p.Val762Gly)
c.2539T>G
c.1781T>G (p.Val594Gly)
c.2162T>G (p.Val721Gly)
c.1751T>G (p.Val584Gly)
c.1904T>G (p.Val635Gly)
n.2295T>G
n.2619T>G
n.2262T>G
 gnomAD v4
19g.11123318_11123319delinsTGCA2322777258LDLRc.2543_2544delinsTG (p.Val848=)
c.*354_*355delinsTG (n.*354_*355delinsTG)
c.2165_2166delinsTG (p.Val722=)
c.2285_2286delinsTG (p.Val762=)
c.2539_2540delinsTG
c.1781_1782delinsTG (p.Val594=)
c.2162_2163delinsTG (p.Val721=)
c.1751_1752delinsTG (p.Val584=)
c.1904_1905delinsTG (p.Val635=)
n.2295_2296delinsTG
n.2619_2620delinsTG
n.2262_2263delinsTG
19g.11123319G>ACA505487093LDLRc.2544G>A (p.Val848=)
c.*355G>A (n.*355G>A)
c.2166G>A (p.Val722=)
c.2286G>A (p.Val762=)
c.2540G>A
c.1782G>A (p.Val594=)
c.2163G>A (p.Val721=)
c.1752G>A (p.Val584=)
c.1905G>A (p.Val635=)
n.2296G>A
n.2620G>A
n.2263G>A
 dbSNP gnomAD v2 gnomAD v4
19g.11123319G>CCA505487095LDLRc.2544G>C (p.Val848=)
c.*355G>C (n.*355G>C)
c.2166G>C (p.Val722=)
c.2286G>C (p.Val762=)
c.2540G>C
c.1782G>C (p.Val594=)
c.2163G>C (p.Val721=)
c.1752G>C (p.Val584=)
c.1905G>C (p.Val635=)
n.2296G>C
n.2620G>C
n.2263G>C
19g.11123319G=CA2322777259LDLRc.2544G= (p.Val848=)
c.*355G= (n.*355G=)
c.2166G= (p.Val722=)
c.2286G= (p.Val762=)
c.2540G=
c.1782G= (p.Val594=)
c.2163G= (p.Val721=)
c.1752G= (p.Val584=)
c.1905G= (p.Val635=)
n.2296G=
n.2620G=
n.2263G=
19g.11123319G>TCA505487096LDLRc.2544G>T (p.Val848=)
c.*355G>T (n.*355G>T)
c.2166G>T (p.Val722=)
c.2286G>T (p.Val762=)
c.2540G>T
c.1782G>T (p.Val594=)
c.2163G>T (p.Val721=)
c.1752G>T (p.Val584=)
c.1905G>T (p.Val635=)
n.2296G>T
n.2620G>T
n.2263G>T
19g.11123320dupCA16602349LDLRc.2545dup (p.Glu849GlyfsTer19)
c.*356dup (n.*356dup)
c.2167dup (p.Glu723GlyfsTer19)
c.2287dup (p.Glu763GlyfsTer19)
c.2541dup
c.1783dup (p.Glu595GlyfsTer19)
c.2164dup (p.Glu722GlyfsTer19)
c.1753dup (p.Glu585GlyfsTer19)
c.2287dup (p.Glu763GlyfsTer28)
c.1906dup (p.Glu636GlyfsTer19)
n.2297dup
n.2621dup
n.2264dup
 ClinVar dbSNP
19g.11123320delCA1139666246LDLRc.2545del (p.Glu849ArgfsTer2)
c.*356del (n.*356del)
c.2167del (p.Glu723ArgfsTer2)
c.2287del (p.Glu763ArgfsTer2)
c.2541del
c.1783del (p.Glu595ArgfsTer2)
c.2164del (p.Glu722ArgfsTer2)
c.1753del (p.Glu585ArgfsTer2)
c.1906del (p.Glu636ArgfsTer2)
n.2297del
n.2621del
n.2264del
 ClinVar dbSNP
19g.11123320G>ACA404095699LDLRc.2545G>A (p.Glu849Lys)
c.*356G>A (n.*356G>A)
c.2167G>A (p.Glu723Lys)
c.2287G>A (p.Glu763Lys)
c.2541G>A
c.1783G>A (p.Glu595Lys)
c.2164G>A (p.Glu722Lys)
c.1753G>A (p.Glu585Lys)
c.1906G>A (p.Glu636Lys)
n.2297G>A
n.2621G>A
n.2264G>A
19g.11123320G>CCA404095700LDLRc.2545G>C (p.Glu849Gln)
c.*356G>C (n.*356G>C)
c.2167G>C (p.Glu723Gln)
c.2287G>C (p.Glu763Gln)
c.2541G>C
c.1783G>C (p.Glu595Gln)
c.2164G>C (p.Glu722Gln)
c.1753G>C (p.Glu585Gln)
c.1906G>C (p.Glu636Gln)
n.2297G>C
n.2621G>C
n.2264G>C
19g.11123320G>TCA404095703LDLRc.2545G>T (p.Glu849Ter)
c.*356G>T (n.*356G>T)
c.2167G>T (p.Glu723Ter)
c.2287G>T (p.Glu763Ter)
c.2541G>T
c.1783G>T (p.Glu595Ter)
c.2164G>T (p.Glu722Ter)
c.1753G>T (p.Glu585Ter)
c.1906G>T (p.Glu636Ter)
n.2297G>T
n.2621G>T
n.2264G>T
19g.11123321A>CCA404095707LDLRc.2546A>C (p.Glu849Ala)
c.*357A>C (n.*357A>C)
c.2168A>C (p.Glu723Ala)
c.2288A>C (p.Glu763Ala)
c.2542A>C
c.1784A>C (p.Glu595Ala)
c.2165A>C (p.Glu722Ala)
c.1754A>C (p.Glu585Ala)
c.1907A>C (p.Glu636Ala)
n.2298A>C
n.2622A>C
n.2265A>C
19g.11123321A>GCA404095704LDLRc.2546A>G (p.Glu849Gly)
c.*357A>G (n.*357A>G)
c.2168A>G (p.Glu723Gly)
c.2288A>G (p.Glu763Gly)
c.2542A>G
c.1784A>G (p.Glu595Gly)
c.2165A>G (p.Glu722Gly)
c.1754A>G (p.Glu585Gly)
c.1907A>G (p.Glu636Gly)
n.2298A>G
n.2622A>G
n.2265A>G
19g.11123321A>TCA404095706LDLRc.2546A>T (p.Glu849Val)
c.*357A>T (n.*357A>T)
c.2168A>T (p.Glu723Val)
c.2288A>T (p.Glu763Val)
c.2542A>T
c.1784A>T (p.Glu595Val)
c.2165A>T (p.Glu722Val)
c.1754A>T (p.Glu585Val)
c.1907A>T (p.Glu636Val)
n.2298A>T
n.2622A>T
n.2265A>T
19g.11123322G>ACA505487102LDLRc.2547G>A (p.Glu849=)
c.*358G>A (n.*358G>A)
c.2169G>A (p.Glu723=)
c.2289G>A (p.Glu763=)
c.2543G>A
c.1785G>A (p.Glu595=)
c.2166G>A (p.Glu722=)
c.1755G>A (p.Glu585=)
c.1908G>A (p.Glu636=)
n.2299G>A
n.2623G>A
n.2266G>A
 gnomAD v4
19g.11123322G>CCA404095712LDLRc.2547G>C (p.Glu849Asp)
c.*358G>C (n.*358G>C)
c.2169G>C (p.Glu723Asp)
c.2289G>C (p.Glu763Asp)
c.2543G>C
c.1785G>C (p.Glu595Asp)
c.2166G>C (p.Glu722Asp)
c.1755G>C (p.Glu585Asp)
c.1908G>C (p.Glu636Asp)
n.2299G>C
n.2623G>C
n.2266G>C
 gnomAD v4
19g.11123322G=CA2322777260LDLRc.2547G= (p.Glu849=)
c.*358G= (n.*358G=)
c.2169G= (p.Glu723=)
c.2289G= (p.Glu763=)
c.2543G=
c.1785G= (p.Glu595=)
c.2166G= (p.Glu722=)
c.1755G= (p.Glu585=)
c.1908G= (p.Glu636=)
n.2299G=
n.2623G=
n.2266G=
19g.11123322G>TCA039372LDLRc.2547G>T (p.Glu849Asp)
c.*358G>T (n.*358G>T)
c.2169G>T (p.Glu723Asp)
c.2289G>T (p.Glu763Asp)
c.2543G>T
c.1785G>T (p.Glu595Asp)
c.2166G>T (p.Glu722Asp)
c.1755G>T (p.Glu585Asp)
c.1908G>T (p.Glu636Asp)
n.2299G>T
n.2623G>T
n.2266G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123323A>CCA404095717LDLRc.2548A>C (p.Ile850Leu)
c.*359A>C (n.*359A>C)
c.2170A>C (p.Ile724Leu)
c.2290A>C (p.Ile764Leu)
c.2544A>C
c.1786A>C (p.Ile596Leu)
c.2167A>C (p.Ile723Leu)
c.1756A>C (p.Ile586Leu)
c.1909A>C (p.Ile637Leu)
n.2300A>C
n.2624A>C
n.2267A>C
19g.11123323A>GCA404095720LDLRc.2548A>G (p.Ile850Val)
c.*359A>G (n.*359A>G)
c.2170A>G (p.Ile724Val)
c.2290A>G (p.Ile764Val)
c.2544A>G
c.1786A>G (p.Ile596Val)
c.2167A>G (p.Ile723Val)
c.1756A>G (p.Ile586Val)
c.1909A>G (p.Ile637Val)
n.2300A>G
n.2624A>G
n.2267A>G
19g.11123323A>TCA404095722LDLRc.2548A>T (p.Ile850Leu)
c.*359A>T (n.*359A>T)
c.2170A>T (p.Ile724Leu)
c.2290A>T (p.Ile764Leu)
c.2544A>T
c.1786A>T (p.Ile596Leu)
c.2167A>T (p.Ile723Leu)
c.1756A>T (p.Ile586Leu)
c.1909A>T (p.Ile637Leu)
n.2300A>T
n.2624A>T
n.2267A>T
19g.11123324_11123325dupCA2582475493LDLRc.2549_2550dup (p.Val851Ter)
c.*360_*361dup (n.*360_*361dup)
c.2171_2172dup (p.Val725Ter)
c.2291_2292dup (p.Val765Ter)
c.2545_2546dup
c.1787_1788dup (p.Val597Ter)
c.2168_2169dup (p.Val724Ter)
c.1757_1758dup (p.Val587Ter)
c.1910_1911dup (p.Val638Ter)
n.2301_2302dup
n.2625_2626dup
n.2268_2269dup
 gnomAD v4
19g.11123324T>ACA404095726LDLRc.2549T>A (p.Ile850Lys)
c.*360T>A (n.*360T>A)
c.2171T>A (p.Ile724Lys)
c.2291T>A (p.Ile764Lys)
c.2545T>A
c.1787T>A (p.Ile596Lys)
c.2168T>A (p.Ile723Lys)
c.1757T>A (p.Ile586Lys)
c.1910T>A (p.Ile637Lys)
n.2301T>A
n.2625T>A
n.2268T>A
19g.11123324T>CCA039387LDLRc.2549T>C (p.Ile850Thr)
c.*360T>C (n.*360T>C)
c.2171T>C (p.Ile724Thr)
c.2291T>C (p.Ile764Thr)
c.2545T>C
c.1787T>C (p.Ile596Thr)
c.2168T>C (p.Ile723Thr)
c.1757T>C (p.Ile586Thr)
c.1910T>C (p.Ile637Thr)
n.2301T>C
n.2625T>C
n.2268T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123324T>GCA404095729LDLRc.2549T>G (p.Ile850Arg)
c.*360T>G (n.*360T>G)
c.2171T>G (p.Ile724Arg)
c.2291T>G (p.Ile764Arg)
c.2545T>G
c.1787T>G (p.Ile596Arg)
c.2168T>G (p.Ile723Arg)
c.1757T>G (p.Ile586Arg)
c.1910T>G (p.Ile637Arg)
n.2301T>G
n.2625T>G
n.2268T>G
 ClinVar dbSNP gnomAD v4
19g.11123324T=CA2322777261LDLRc.2549T= (p.Ile850=)
c.*360T= (n.*360T=)
c.2171T= (p.Ile724=)
c.2291T= (p.Ile764=)
c.2545T=
c.1787T= (p.Ile596=)
c.2168T= (p.Ile723=)
c.1757T= (p.Ile586=)
c.1910T= (p.Ile637=)
n.2301T=
n.2625T=
n.2268T=
19g.11123324_11123325delinsTACA2322777262LDLRc.2549_2550delinsTA (p.Ile850=)
c.*360_*361delinsTA (n.*360_*361delinsTA)
c.2171_2172delinsTA (p.Ile724=)
c.2291_2292delinsTA (p.Ile764=)
c.2545_2546delinsTA
c.1787_1788delinsTA (p.Ile596=)
c.2168_2169delinsTA (p.Ile723=)
c.1757_1758delinsTA (p.Ile586=)
c.1910_1911delinsTA (p.Ile637=)
n.2301_2302delinsTA
n.2625_2626delinsTA
n.2268_2269delinsTA
19g.11123325delCA10576332LDLRc.2550del (p.Ile850MetfsTer2)
c.*361del (n.*361del)
c.2172del (p.Ile724MetfsTer2)
c.2292del (p.Ile764MetfsTer2)
c.2546del
c.1788del (p.Ile596MetfsTer2)
c.2169del (p.Ile723MetfsTer2)
c.1758del (p.Ile586MetfsTer2)
c.1911del (p.Ile637MetfsTer2)
n.2302del
n.2626del
n.2269del
 ClinVar dbSNP gnomAD v4
19g.11123325A>CCA505487108LDLRc.2550A>C (p.Ile850=)
c.*361A>C (n.*361A>C)
c.2172A>C (p.Ile724=)
c.2292A>C (p.Ile764=)
c.2546A>C
c.1788A>C (p.Ile596=)
c.2169A>C (p.Ile723=)
c.1758A>C (p.Ile586=)
c.1911A>C (p.Ile637=)
n.2302A>C
n.2626A>C
n.2269A>C
19g.11123325A>GCA404095734LDLRc.2550A>G (p.Ile850Met)
c.*361A>G (n.*361A>G)
c.2172A>G (p.Ile724Met)
c.2292A>G (p.Ile764Met)
c.2546A>G
c.1788A>G (p.Ile596Met)
c.2169A>G (p.Ile723Met)
c.1758A>G (p.Ile586Met)
c.1911A>G (p.Ile637Met)
n.2302A>G
n.2626A>G
n.2269A>G
19g.11123325A>TCA505487109LDLRc.2550A>T (p.Ile850=)
c.*361A>T (n.*361A>T)
c.2172A>T (p.Ile724=)
c.2292A>T (p.Ile764=)
c.2546A>T
c.1788A>T (p.Ile596=)
c.2169A>T (p.Ile723=)
c.1758A>T (p.Ile586=)
c.1911A>T (p.Ile637=)
n.2302A>T
n.2626A>T
n.2269A>T
19g.11123325_11123333delinsAGTGACAATCA2322777263LDLRc.2550_2558delinsAGTGACAAT (p.Ile850=)
c.*361_*369delinsAGTGACAAT (n.*361_*369delinsAGTGACAAT)
c.2172_2180delinsAGTGACAAT (p.Ile724=)
c.2292_2300delinsAGTGACAAT (p.Ile764=)
c.2546_2554delinsAGTGACAAT
c.1788_1796delinsAGTGACAAT (p.Ile596=)
c.2169_2177delinsAGTGACAAT (p.Ile723=)
c.1758_1766delinsAGTGACAAT (p.Ile586=)
c.1911_1919delinsAGTGACAAT (p.Ile637=)
n.2302_2310delinsAGTGACAAT
n.2626_2634delinsAGTGACAAT
n.2269_2277delinsAGTGACAAT
19g.11123326G>ACA404095741LDLRc.2551G>A (p.Val851Met)
c.*362G>A (n.*362G>A)
c.2173G>A (p.Val725Met)
c.2293G>A (p.Val765Met)
c.2547G>A
c.1789G>A (p.Val597Met)
c.2170G>A (p.Val724Met)
c.1759G>A (p.Val587Met)
c.1912G>A (p.Val638Met)
n.2303G>A
n.2627G>A
n.2270G>A
19g.11123326G>CCA404095744LDLRc.2551G>C (p.Val851Leu)
c.*362G>C (n.*362G>C)
c.2173G>C (p.Val725Leu)
c.2293G>C (p.Val765Leu)
c.2547G>C
c.1789G>C (p.Val597Leu)
c.2170G>C (p.Val724Leu)
c.1759G>C (p.Val587Leu)
c.1912G>C (p.Val638Leu)
n.2303G>C
n.2627G>C
n.2270G>C
19g.11123326G>TCA404095747LDLRc.2551G>T (p.Val851Leu)
c.*362G>T (n.*362G>T)
c.2173G>T (p.Val725Leu)
c.2293G>T (p.Val765Leu)
c.2547G>T
c.1789G>T (p.Val597Leu)
c.2170G>T (p.Val724Leu)
c.1759G>T (p.Val587Leu)
c.1912G>T (p.Val638Leu)
n.2303G>T
n.2627G>T
n.2270G>T
19g.11123328_11123335delCA16602350LDLRc.2553_2560del (p.Thr852SerfsTer13)
c.*364_*371del (n.*364_*371del)
c.2175_2182del (p.Thr726SerfsTer13)
c.2295_2302del (p.Thr766SerfsTer13)
c.2549_2556del
c.1791_1798del (p.Thr598SerfsTer13)
c.2172_2179del (p.Thr725SerfsTer13)
c.1761_1768del (p.Thr588SerfsTer13)
c.2295_2302del (p.Thr766SerfsTer22)
c.1914_1921del (p.Thr639SerfsTer13)
n.2305_2312del
n.2629_2636del
n.2272_2279del
 ClinVar dbSNP
19g.11123327T>ACA404095751LDLRc.2552T>A (p.Val851Glu)
c.*363T>A (n.*363T>A)
c.2174T>A (p.Val725Glu)
c.2294T>A (p.Val765Glu)
c.2548T>A
c.1790T>A (p.Val597Glu)
c.2171T>A (p.Val724Glu)
c.1760T>A (p.Val587Glu)
c.1913T>A (p.Val638Glu)
n.2304T>A
n.2628T>A
n.2271T>A
19g.11123327T>CCA404095753LDLRc.2552T>C (p.Val851Ala)
c.*363T>C (n.*363T>C)
c.2174T>C (p.Val725Ala)
c.2294T>C (p.Val765Ala)
c.2548T>C
c.1790T>C (p.Val597Ala)
c.2171T>C (p.Val724Ala)
c.1760T>C (p.Val587Ala)
c.1913T>C (p.Val638Ala)
n.2304T>C
n.2628T>C
n.2271T>C
 ClinVar gnomAD v4
19g.11123327T>GCA10585814LDLRc.2552T>G (p.Val851Gly)
c.*363T>G (n.*363T>G)
c.2174T>G (p.Val725Gly)
c.2294T>G (p.Val765Gly)
c.2548T>G
c.1790T>G (p.Val597Gly)
c.2171T>G (p.Val724Gly)
c.1760T>G (p.Val587Gly)
c.1913T>G (p.Val638Gly)
n.2304T>G
n.2628T>G
n.2271T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11123327T=CA2322777264LDLRc.2552T= (p.Val851=)
c.*363T= (n.*363T=)
c.2174T= (p.Val725=)
c.2294T= (p.Val765=)
c.2548T=
c.1790T= (p.Val597=)
c.2171T= (p.Val724=)
c.1760T= (p.Val587=)
c.1913T= (p.Val638=)
n.2304T=
n.2628T=
n.2271T=
19g.11123328G>ACA505487118LDLRc.2553G>A (p.Val851=)
c.*364G>A (n.*364G>A)
c.2175G>A (p.Val725=)
c.2295G>A (p.Val765=)
c.2549G>A
c.1791G>A (p.Val597=)
c.2172G>A (p.Val724=)
c.1761G>A (p.Val587=)
c.1914G>A (p.Val638=)
n.2305G>A
n.2629G>A
n.2272G>A
 dbSNP gnomAD v2 gnomAD v4
19g.11123328G>CCA505487117LDLRc.2553G>C (p.Val851=)
c.*364G>C (n.*364G>C)
c.2175G>C (p.Val725=)
c.2295G>C (p.Val765=)
c.2549G>C
c.1791G>C (p.Val597=)
c.2172G>C (p.Val724=)
c.1761G>C (p.Val587=)
c.1914G>C (p.Val638=)
n.2305G>C
n.2629G>C
n.2272G>C
19g.11123328G=CA2322777265LDLRc.2553G= (p.Val851=)
c.*364G= (n.*364G=)
c.2175G= (p.Val725=)
c.2295G= (p.Val765=)
c.2549G=
c.1791G= (p.Val597=)
c.2172G= (p.Val724=)
c.1761G= (p.Val587=)
c.1914G= (p.Val638=)
n.2305G=
n.2629G=
n.2272G=
19g.11123328G>TCA505487116LDLRc.2553G>T (p.Val851=)
c.*364G>T (n.*364G>T)
c.2175G>T (p.Val725=)
c.2295G>T (p.Val765=)
c.2549G>T
c.1791G>T (p.Val597=)
c.2172G>T (p.Val724=)
c.1761G>T (p.Val587=)
c.1914G>T (p.Val638=)
n.2305G>T
n.2629G>T
n.2272G>T
19g.11123328_11123330delinsGACCA2322777266LDLRc.2553_2555delinsGAC (p.Val851=)
c.*364_*366delinsGAC (n.*364_*366delinsGAC)
c.2175_2177delinsGAC (p.Val725=)
c.2295_2297delinsGAC (p.Val765=)
c.2549_2551delinsGAC
c.1791_1793delinsGAC (p.Val597=)
c.2172_2174delinsGAC (p.Val724=)
c.1761_1763delinsGAC (p.Val587=)
c.1914_1916delinsGAC (p.Val638=)
n.2305_2307delinsGAC
n.2629_2631delinsGAC
n.2272_2274delinsGAC
19g.11123329delCA2695228319LDLRc.2554del (p.Thr852GlnfsTer22)
c.*365del (n.*365del)
c.2176del (p.Thr726GlnfsTer22)
c.2296del (p.Thr766GlnfsTer22)
c.2550del
c.1792del (p.Thr598GlnfsTer22)
c.2173del (p.Thr725GlnfsTer22)
c.1762del (p.Thr588GlnfsTer22)
c.2296del (p.Thr766GlnfsTer?)
c.1915del (p.Thr639GlnfsTer22)
n.2306del
n.2630del
n.2273del
19g.11123329A=CA2322777267LDLRc.2554A= (p.Thr852=)
c.*365A= (n.*365A=)
c.2176A= (p.Thr726=)
c.2296A= (p.Thr766=)
c.2550A=
c.1792A= (p.Thr598=)
c.2173A= (p.Thr725=)
c.1762A= (p.Thr588=)
c.1915A= (p.Thr639=)
n.2306A=
n.2630A=
n.2273A=
19g.11123329A>CCA404095762LDLRc.2554A>C (p.Thr852Pro)
c.*365A>C (n.*365A>C)
c.2176A>C (p.Thr726Pro)
c.2296A>C (p.Thr766Pro)
c.2550A>C
c.1792A>C (p.Thr598Pro)
c.2173A>C (p.Thr725Pro)
c.1762A>C (p.Thr588Pro)
c.1915A>C (p.Thr639Pro)
n.2306A>C
n.2630A>C
n.2273A>C
19g.11123329A>GCA10585815LDLRc.2554A>G (p.Thr852Ala)
c.*365A>G (n.*365A>G)
c.2176A>G (p.Thr726Ala)
c.2296A>G (p.Thr766Ala)
c.2550A>G
c.1792A>G (p.Thr598Ala)
c.2173A>G (p.Thr725Ala)
c.1762A>G (p.Thr588Ala)
c.1915A>G (p.Thr639Ala)
n.2306A>G
n.2630A>G
n.2273A>G
 ClinVar dbSNP gnomAD v4
19g.11123329A>TCA404095767LDLRc.2554A>T (p.Thr852Ser)
c.*365A>T (n.*365A>T)
c.2176A>T (p.Thr726Ser)
c.2296A>T (p.Thr766Ser)
c.2550A>T
c.1792A>T (p.Thr598Ser)
c.2173A>T (p.Thr725Ser)
c.1762A>T (p.Thr588Ser)
c.1915A>T (p.Thr639Ser)
n.2306A>T
n.2630A>T
n.2273A>T
19g.11123330_11123331delCA10585817LDLRc.2555_2556del (p.Thr852AsnfsTer15)
c.*366_*367del (n.*366_*367del)
c.2177_2178del (p.Thr726AsnfsTer15)
c.2297_2298del (p.Thr766AsnfsTer15)
c.2551_2552del
c.1793_1794del (p.Thr598AsnfsTer15)
c.2174_2175del (p.Thr725AsnfsTer15)
c.1763_1764del (p.Thr588AsnfsTer15)
c.2297_2298del (p.Thr766AsnfsTer24)
c.1916_1917del (p.Thr639AsnfsTer15)
n.2307_2308del
n.2631_2632del
n.2274_2275del
 ClinVar dbSNP
19g.11123330C>ACA404095771LDLRc.2555C>A (p.Thr852Lys)
c.*366C>A (n.*366C>A)
c.2177C>A (p.Thr726Lys)
c.2297C>A (p.Thr766Lys)
c.2551C>A
c.1793C>A (p.Thr598Lys)
c.2174C>A (p.Thr725Lys)
c.1763C>A (p.Thr588Lys)
c.1916C>A (p.Thr639Lys)
n.2307C>A
n.2631C>A
n.2274C>A
19g.11123330C=CA2322777268LDLRc.2555C= (p.Thr852=)
c.*366C= (n.*366C=)
c.2177C= (p.Thr726=)
c.2297C= (p.Thr766=)
c.2551C=
c.1793C= (p.Thr598=)
c.2174C= (p.Thr725=)
c.1763C= (p.Thr588=)
c.1916C= (p.Thr639=)
n.2307C=
n.2631C=
n.2274C=
19g.11123330C>GCA404095768LDLRc.2555C>G (p.Thr852Arg)
c.*366C>G (n.*366C>G)
c.2177C>G (p.Thr726Arg)
c.2297C>G (p.Thr766Arg)
c.2551C>G
c.1793C>G (p.Thr598Arg)
c.2174C>G (p.Thr725Arg)
c.1763C>G (p.Thr588Arg)
c.1916C>G (p.Thr639Arg)
n.2307C>G
n.2631C>G
n.2274C>G
19g.11123330C>TCA10585816LDLRc.2555C>T (p.Thr852Ile)
c.*366C>T (n.*366C>T)
c.2177C>T (p.Thr726Ile)
c.2297C>T (p.Thr766Ile)
c.2551C>T
c.1793C>T (p.Thr598Ile)
c.2174C>T (p.Thr725Ile)
c.1763C>T (p.Thr588Ile)
c.1916C>T (p.Thr639Ile)
n.2307C>T
n.2631C>T
n.2274C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11123330_11123331delinsCACA2322777269LDLRc.2555_2556delinsCA (p.Thr852=)
c.*366_*367delinsCA (n.*366_*367delinsCA)
c.2177_2178delinsCA (p.Thr726=)
c.2297_2298delinsCA (p.Thr766=)
c.2551_2552delinsCA
c.1793_1794delinsCA (p.Thr598=)
c.2174_2175delinsCA (p.Thr725=)
c.1763_1764delinsCA (p.Thr588=)
c.1916_1917delinsCA (p.Thr639=)
n.2307_2308delinsCA
n.2631_2632delinsCA
n.2274_2275delinsCA
19g.11123331A=CA2322777270LDLRc.2556A= (p.Thr852=)
c.*367A= (n.*367A=)
c.2178A= (p.Thr726=)
c.2298A= (p.Thr766=)
c.2552A=
c.1794A= (p.Thr598=)
c.2175A= (p.Thr725=)
c.1764A= (p.Thr588=)
c.1917A= (p.Thr639=)
n.2308A=
n.2632A=
n.2275A=
19g.11123331A>CCA505487121LDLRc.2556A>C (p.Thr852=)
c.*367A>C (n.*367A>C)
c.2178A>C (p.Thr726=)
c.2298A>C (p.Thr766=)
c.2552A>C
c.1794A>C (p.Thr598=)
c.2175A>C (p.Thr725=)
c.1764A>C (p.Thr588=)
c.1917A>C (p.Thr639=)
n.2308A>C
n.2632A>C
n.2275A>C
19g.11123331A>GCA505487122LDLRc.2556A>G (p.Thr852=)
c.*367A>G (n.*367A>G)
c.2178A>G (p.Thr726=)
c.2298A>G (p.Thr766=)
c.2552A>G
c.1794A>G (p.Thr598=)
c.2175A>G (p.Thr725=)
c.1764A>G (p.Thr588=)
c.1917A>G (p.Thr639=)
n.2308A>G
n.2632A>G
n.2275A>G
 ClinVar dbSNP
19g.11123331A>TCA505487123LDLRc.2556A>T (p.Thr852=)
c.*367A>T (n.*367A>T)
c.2178A>T (p.Thr726=)
c.2298A>T (p.Thr766=)
c.2552A>T
c.1794A>T (p.Thr598=)
c.2175A>T (p.Thr725=)
c.1764A>T (p.Thr588=)
c.1917A>T (p.Thr639=)
n.2308A>T
n.2632A>T
n.2275A>T
19g.11123332delCA10585818LDLRc.2557del (p.Met853CysfsTer21)
c.*368del (n.*368del)
c.2179del (p.Met727CysfsTer21)
c.2299del (p.Met767CysfsTer21)
c.2553del
c.1795del (p.Met599CysfsTer21)
c.2176del (p.Met726CysfsTer21)
c.1765del (p.Met589CysfsTer21)
c.2299del (p.Met767CysfsTer?)
c.1918del (p.Met640CysfsTer21)
n.2309del
n.2633del
n.2276del
 ClinVar dbSNP
19g.11123332A=CA2322777271LDLRc.2557A= (p.Met853=)
c.*368A= (n.*368A=)
c.2179A= (p.Met727=)
c.2299A= (p.Met767=)
c.2553A=
c.1795A= (p.Met599=)
c.2176A= (p.Met726=)
c.1765A= (p.Met589=)
c.1918A= (p.Met640=)
n.2309A=
n.2633A=
n.2276A=
19g.11123332A>CCA404095781LDLRc.2557A>C (p.Met853Leu)
c.*368A>C (n.*368A>C)
c.2179A>C (p.Met727Leu)
c.2299A>C (p.Met767Leu)
c.2553A>C
c.1795A>C (p.Met599Leu)
c.2176A>C (p.Met726Leu)
c.1765A>C (p.Met589Leu)
c.1918A>C (p.Met640Leu)
n.2309A>C
n.2633A>C
n.2276A>C
19g.11123332A>GCA305305292LDLRc.2557A>G (p.Met853Val)
c.*368A>G (n.*368A>G)
c.2179A>G (p.Met727Val)
c.2299A>G (p.Met767Val)
c.2553A>G
c.1795A>G (p.Met599Val)
c.2176A>G (p.Met726Val)
c.1765A>G (p.Met589Val)
c.1918A>G (p.Met640Val)
n.2309A>G
n.2633A>G
n.2276A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11123332A>TCA404095779LDLRc.2557A>T (p.Met853Leu)
c.*368A>T (n.*368A>T)
c.2179A>T (p.Met727Leu)
c.2299A>T (p.Met767Leu)
c.2553A>T
c.1795A>T (p.Met599Leu)
c.2176A>T (p.Met726Leu)
c.1765A>T (p.Met589Leu)
c.1918A>T (p.Met640Leu)
n.2309A>T
n.2633A>T
n.2276A>T
19g.11123333T>ACA404095799LDLRc.2558T>A (p.Met853Lys)
c.*369T>A (n.*369T>A)
c.2180T>A (p.Met727Lys)
c.2300T>A (p.Met767Lys)
c.2554T>A
c.1796T>A (p.Met599Lys)
c.2177T>A (p.Met726Lys)
c.1766T>A (p.Met589Lys)
c.1919T>A (p.Met640Lys)
n.2310T>A
n.2634T>A
n.2277T>A
19g.11123333T>CCA404095801LDLRc.2558T>C (p.Met853Thr)
c.*369T>C (n.*369T>C)
c.2180T>C (p.Met727Thr)
c.2300T>C (p.Met767Thr)
c.2554T>C
c.1796T>C (p.Met599Thr)
c.2177T>C (p.Met726Thr)
c.1766T>C (p.Met589Thr)
c.1919T>C (p.Met640Thr)
n.2310T>C
n.2634T>C
n.2277T>C
 dbSNP gnomAD v2 gnomAD v4
19g.11123333T>GCA404095804LDLRc.2558T>G (p.Met853Arg)
c.*369T>G (n.*369T>G)
c.2180T>G (p.Met727Arg)
c.2300T>G (p.Met767Arg)
c.2554T>G
c.1796T>G (p.Met599Arg)
c.2177T>G (p.Met726Arg)
c.1766T>G (p.Met589Arg)
c.1919T>G (p.Met640Arg)
n.2310T>G
n.2634T>G
n.2277T>G
19g.11123333T=CA2322777272LDLRc.2558T= (p.Met853=)
c.*369T= (n.*369T=)
c.2180T= (p.Met727=)
c.2300T= (p.Met767=)
c.2554T=
c.1796T= (p.Met599=)
c.2177T= (p.Met726=)
c.1766T= (p.Met589=)
c.1919T= (p.Met640=)
n.2310T=
n.2634T=
n.2277T=
19g.11123334G>ACA039399LDLRc.2559G>A (p.Met853Ile)
c.*370G>A (n.*370G>A)
c.2181G>A (p.Met727Ile)
c.2301G>A (p.Met767Ile)
c.2555G>A
c.1797G>A (p.Met599Ile)
c.2178G>A (p.Met726Ile)
c.1767G>A (p.Met589Ile)
c.1920G>A (p.Met640Ile)
n.2311G>A
n.2635G>A
n.2278G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123334G>CCA404095809LDLRc.2559G>C (p.Met853Ile)
c.*370G>C (n.*370G>C)
c.2181G>C (p.Met727Ile)
c.2301G>C (p.Met767Ile)
c.2555G>C
c.1797G>C (p.Met599Ile)
c.2178G>C (p.Met726Ile)
c.1767G>C (p.Met589Ile)
c.1920G>C (p.Met640Ile)
n.2311G>C
n.2635G>C
n.2278G>C
19g.11123334G=CA2322777273LDLRc.2559G= (p.Met853=)
c.*370G= (n.*370G=)
c.2181G= (p.Met727=)
c.2301G= (p.Met767=)
c.2555G=
c.1797G= (p.Met599=)
c.2178G= (p.Met726=)
c.1767G= (p.Met589=)
c.1920G= (p.Met640=)
n.2311G=
n.2635G=
n.2278G=
19g.11123334G>TCA404095813LDLRc.2559G>T (p.Met853Ile)
c.*370G>T (n.*370G>T)
c.2181G>T (p.Met727Ile)
c.2301G>T (p.Met767Ile)
c.2555G>T
c.1797G>T (p.Met599Ile)
c.2178G>T (p.Met726Ile)
c.1767G>T (p.Met589Ile)
c.1920G>T (p.Met640Ile)
n.2311G>T
n.2635G>T
n.2278G>T
19g.11123335T>ACA404095815LDLRc.2560T>A (p.Ser854Thr)
c.*371T>A (n.*371T>A)
c.2182T>A (p.Ser728Thr)
c.2302T>A (p.Ser768Thr)
c.2556T>A
c.1798T>A (p.Ser600Thr)
c.2179T>A (p.Ser727Thr)
c.1768T>A (p.Ser590Thr)
c.1921T>A (p.Ser641Thr)
n.2312T>A
n.2636T>A
n.2279T>A
 gnomAD v4
19g.11123335T>CCA404095817LDLRc.2560T>C (p.Ser854Pro)
c.*371T>C (n.*371T>C)
c.2182T>C (p.Ser728Pro)
c.2302T>C (p.Ser768Pro)
c.2556T>C
c.1798T>C (p.Ser600Pro)
c.2179T>C (p.Ser727Pro)
c.1768T>C (p.Ser590Pro)
c.1921T>C (p.Ser641Pro)
n.2312T>C
n.2636T>C
n.2279T>C
19g.11123335T>GCA404095819LDLRc.2560T>G (p.Ser854Ala)
c.*371T>G (n.*371T>G)
c.2182T>G (p.Ser728Ala)
c.2302T>G (p.Ser768Ala)
c.2556T>G
c.1798T>G (p.Ser600Ala)
c.2179T>G (p.Ser727Ala)
c.1768T>G (p.Ser590Ala)
c.1921T>G (p.Ser641Ala)
n.2312T>G
n.2636T>G
n.2279T>G
19g.11123336C>ACA404095826LDLRc.2561C>A (p.Ser854Tyr)
c.*372C>A (n.*372C>A)
c.2183C>A (p.Ser728Tyr)
c.2303C>A (p.Ser768Tyr)
c.2557C>A
c.1799C>A (p.Ser600Tyr)
c.2180C>A (p.Ser727Tyr)
c.1769C>A (p.Ser590Tyr)
c.1922C>A (p.Ser641Tyr)
n.2313C>A
n.2637C>A
n.2280C>A
19g.11123336C>GCA404095822LDLRc.2561C>G (p.Ser854Cys)
c.*372C>G (n.*372C>G)
c.2183C>G (p.Ser728Cys)
c.2303C>G (p.Ser768Cys)
c.2557C>G
c.1799C>G (p.Ser600Cys)
c.2180C>G (p.Ser727Cys)
c.1769C>G (p.Ser590Cys)
c.1922C>G (p.Ser641Cys)
n.2313C>G
n.2637C>G
n.2280C>G
19g.11123336C>TCA404095825LDLRc.2561C>T (p.Ser854Phe)
c.*372C>T (n.*372C>T)
c.2183C>T (p.Ser728Phe)
c.2303C>T (p.Ser768Phe)
c.2557C>T
c.1799C>T (p.Ser600Phe)
c.2180C>T (p.Ser727Phe)
c.1769C>T (p.Ser590Phe)
c.1922C>T (p.Ser641Phe)
n.2313C>T
n.2637C>T
n.2280C>T
 gnomAD v4 COSMIC
19g.11123337T>ACA505487129LDLRc.2562T>A (p.Ser854=)
c.*373T>A (n.*373T>A)
c.2184T>A (p.Ser728=)
c.2304T>A (p.Ser768=)
c.2558T>A
c.1800T>A (p.Ser600=)
c.2181T>A (p.Ser727=)
c.1770T>A (p.Ser590=)
c.1923T>A (p.Ser641=)
n.2314T>A
n.2638T>A
n.2281T>A
19g.11123337T>CCA505487130LDLRc.2562T>C (p.Ser854=)
c.*373T>C (n.*373T>C)
c.2184T>C (p.Ser728=)
c.2304T>C (p.Ser768=)
c.2558T>C
c.1800T>C (p.Ser600=)
c.2181T>C (p.Ser727=)
c.1770T>C (p.Ser590=)
c.1923T>C (p.Ser641=)
n.2314T>C
n.2638T>C
n.2281T>C
19g.11123337T>GCA505487131LDLRc.2562T>G (p.Ser854=)
c.*373T>G (n.*373T>G)
c.2184T>G (p.Ser728=)
c.2304T>G (p.Ser768=)
c.2558T>G
c.1800T>G (p.Ser600=)
c.2181T>G (p.Ser727=)
c.1770T>G (p.Ser590=)
c.1923T>G (p.Ser641=)
n.2314T>G
n.2638T>G
n.2281T>G
19g.11123338C>ACA404095830LDLRc.2563C>A (p.His855Asn)
c.*374C>A (n.*374C>A)
c.2185C>A (p.His729Asn)
c.2305C>A (p.His769Asn)
c.2559C>A
c.1801C>A (p.His601Asn)
c.2182C>A (p.His728Asn)
c.1771C>A (p.His591Asn)
c.1924C>A (p.His642Asn)
n.2315C>A
n.2639C>A
n.2282C>A
19g.11123338C=CA2322777274LDLRc.2563C= (p.His855=)
c.*374C= (n.*374C=)
c.2185C= (p.His729=)
c.2305C= (p.His769=)
c.2559C=
c.1801C= (p.His601=)
c.2182C= (p.His728=)
c.1771C= (p.His591=)
c.1924C= (p.His642=)
n.2315C=
n.2639C=
n.2282C=
19g.11123338C>GCA404095834LDLRc.2563C>G (p.His855Asp)
c.*374C>G (n.*374C>G)
c.2185C>G (p.His729Asp)
c.2305C>G (p.His769Asp)
c.2559C>G
c.1801C>G (p.His601Asp)
c.2182C>G (p.His728Asp)
c.1771C>G (p.His591Asp)
c.1924C>G (p.His642Asp)
n.2315C>G
n.2639C>G
n.2282C>G
19g.11123338C>TCA039415LDLRc.2563C>T (p.His855Tyr)
c.*374C>T (n.*374C>T)
c.2185C>T (p.His729Tyr)
c.2305C>T (p.His769Tyr)
c.2559C>T
c.1801C>T (p.His601Tyr)
c.2182C>T (p.His728Tyr)
c.1771C>T (p.His591Tyr)
c.1924C>T (p.His642Tyr)
n.2315C>T
n.2639C>T
n.2282C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123339A>CCA404095838LDLRc.2564A>C (p.His855Pro)
c.*375A>C (n.*375A>C)
c.2186A>C (p.His729Pro)
c.2306A>C (p.His769Pro)
c.2560A>C
c.1802A>C (p.His601Pro)
c.2183A>C (p.His728Pro)
c.1772A>C (p.His591Pro)
c.1925A>C (p.His642Pro)
n.2316A>C
n.2640A>C
n.2283A>C
19g.11123339A>GCA404095840LDLRc.2564A>G (p.His855Arg)
c.*375A>G (n.*375A>G)
c.2186A>G (p.His729Arg)
c.2306A>G (p.His769Arg)
c.2560A>G
c.1802A>G (p.His601Arg)
c.2183A>G (p.His728Arg)
c.1772A>G (p.His591Arg)
c.1925A>G (p.His642Arg)
n.2316A>G
n.2640A>G
n.2283A>G
19g.11123339A>TCA404095841LDLRc.2564A>T (p.His855Leu)
c.*375A>T (n.*375A>T)
c.2186A>T (p.His729Leu)
c.2306A>T (p.His769Leu)
c.2560A>T
c.1802A>T (p.His601Leu)
c.2183A>T (p.His728Leu)
c.1772A>T (p.His591Leu)
c.1925A>T (p.His642Leu)
n.2316A>T
n.2640A>T
n.2283A>T
19g.11123340C>ACA404095844LDLRc.2565C>A (p.His855Gln)
c.*376C>A (n.*376C>A)
c.2187C>A (p.His729Gln)
c.2307C>A (p.His769Gln)
c.2561C>A
c.1803C>A (p.His601Gln)
c.2184C>A (p.His728Gln)
c.1773C>A (p.His591Gln)
c.1926C>A (p.His642Gln)
n.2317C>A
n.2641C>A
n.2284C>A
19g.11123340C=CA2322777275LDLRc.2565C= (p.His855=)
c.*376C= (n.*376C=)
c.2187C= (p.His729=)
c.2307C= (p.His769=)
c.2561C=
c.1803C= (p.His601=)
c.2184C= (p.His728=)
c.1773C= (p.His591=)
c.1926C= (p.His642=)
n.2317C=
n.2641C=
n.2284C=
19g.11123340C>GCA039434LDLRc.2565C>G (p.His855Gln)
c.*376C>G (n.*376C>G)
c.2187C>G (p.His729Gln)
c.2307C>G (p.His769Gln)
c.2561C>G
c.1803C>G (p.His601Gln)
c.2184C>G (p.His728Gln)
c.1773C>G (p.His591Gln)
c.1926C>G (p.His642Gln)
n.2317C>G
n.2641C>G
n.2284C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123340C>TCA505487135LDLRc.2565C>T (p.His855=)
c.*376C>T (n.*376C>T)
c.2187C>T (p.His729=)
c.2307C>T (p.His769=)
c.2561C>T
c.1803C>T (p.His601=)
c.2184C>T (p.His728=)
c.1773C>T (p.His591=)
c.1926C>T (p.His642=)
n.2317C>T
n.2641C>T
n.2284C>T
 ClinVar dbSNP
19g.11123341C>ACA404095854LDLRc.2566C>A (p.Gln856Lys)
c.*377C>A (n.*377C>A)
c.2188C>A (p.Gln730Lys)
c.2308C>A (p.Gln770Lys)
c.2562C>A
c.1804C>A (p.Gln602Lys)
c.2185C>A (p.Gln729Lys)
c.1774C>A (p.Gln592Lys)
c.1927C>A (p.Gln643Lys)
n.2318C>A
n.2642C>A
n.2285C>A
19g.11123341C=CA2322777276LDLRc.2566C= (p.Gln856=)
c.*377C= (n.*377C=)
c.2188C= (p.Gln730=)
c.2308C= (p.Gln770=)
c.2562C=
c.1804C= (p.Gln602=)
c.2185C= (p.Gln729=)
c.1774C= (p.Gln592=)
c.1927C= (p.Gln643=)
n.2318C=
n.2642C=
n.2285C=
19g.11123341C>GCA404095858LDLRc.2566C>G (p.Gln856Glu)
c.*377C>G (n.*377C>G)
c.2188C>G (p.Gln730Glu)
c.2308C>G (p.Gln770Glu)
c.2562C>G
c.1804C>G (p.Gln602Glu)
c.2185C>G (p.Gln729Glu)
c.1774C>G (p.Gln592Glu)
c.1927C>G (p.Gln643Glu)
n.2318C>G
n.2642C>G
n.2285C>G
 ClinVar dbSNP
19g.11123341C>TCA039441LDLRc.2566C>T (p.Gln856Ter)
c.*377C>T (n.*377C>T)
c.2188C>T (p.Gln730Ter)
c.2308C>T (p.Gln770Ter)
c.2562C>T
c.1804C>T (p.Gln602Ter)
c.2185C>T (p.Gln729Ter)
c.1774C>T (p.Gln592Ter)
c.1927C>T (p.Gln643Ter)
n.2318C>T
n.2642C>T
n.2285C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123342_11123352delCA2582475494LDLRc.2567_2569+8del
c.*378_*380+8del
c.2189_2191+8del
c.2309_2311+8del
c.2563_2565+8del
c.1805_1807+8del
c.2186_2188+8del
c.1775_1777+8del
c.1928_1930+8del
n.2319_2321+8del
n.2643_2645+8del
n.2286_2288+8del
 gnomAD v4
19g.11123342A=CA2322777277LDLRc.2567A= (p.Gln856=)
c.*378A= (n.*378A=)
c.2189A= (p.Gln730=)
c.2309A= (p.Gln770=)
c.2563A=
c.1805A= (p.Gln602=)
c.2186A= (p.Gln729=)
c.1775A= (p.Gln592=)
c.1928A= (p.Gln643=)
n.2319A=
n.2643A=
n.2286A=
19g.11123342A>CCA404095870LDLRc.2567A>C (p.Gln856Pro)
c.*378A>C (n.*378A>C)
c.2189A>C (p.Gln730Pro)
c.2309A>C (p.Gln770Pro)
c.2563A>C
c.1805A>C (p.Gln602Pro)
c.2186A>C (p.Gln729Pro)
c.1775A>C (p.Gln592Pro)
c.1928A>C (p.Gln643Pro)
n.2319A>C
n.2643A>C
n.2286A>C
 gnomAD v4
19g.11123342A>GCA404095874LDLRc.2567A>G (p.Gln856Arg)
c.*378A>G (n.*378A>G)
c.2189A>G (p.Gln730Arg)
c.2309A>G (p.Gln770Arg)
c.2563A>G
c.1805A>G (p.Gln602Arg)
c.2186A>G (p.Gln729Arg)
c.1775A>G (p.Gln592Arg)
c.1928A>G (p.Gln643Arg)
n.2319A>G
n.2643A>G
n.2286A>G
 dbSNP gnomAD v2 gnomAD v4
19g.11123342A>TCA404095866LDLRc.2567A>T (p.Gln856Leu)
c.*378A>T (n.*378A>T)
c.2189A>T (p.Gln730Leu)
c.2309A>T (p.Gln770Leu)
c.2563A>T
c.1805A>T (p.Gln602Leu)
c.2186A>T (p.Gln729Leu)
c.1775A>T (p.Gln592Leu)
c.1928A>T (p.Gln643Leu)
n.2319A>T
n.2643A>T
n.2286A>T
19g.11123343A=CA2322777278LDLRc.2568A= (p.Gln856=)
c.*379A= (n.*379A=)
c.2190A= (p.Gln730=)
c.2310A= (p.Gln770=)
c.2564A=
c.1806A= (p.Gln602=)
c.2187A= (p.Gln729=)
c.1776A= (p.Gln592=)
c.1929A= (p.Gln643=)
n.2320A=
n.2644A=
n.2287A=
19g.11123343A>CCA039447LDLRc.2568A>C (p.Gln856His)
c.*379A>C (n.*379A>C)
c.2190A>C (p.Gln730His)
c.2310A>C (p.Gln770His)
c.2564A>C
c.1806A>C (p.Gln602His)
c.2187A>C (p.Gln729His)
c.1776A>C (p.Gln592His)
c.1929A>C (p.Gln643His)
n.2320A>C
n.2644A>C
n.2287A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123343A>GCA505487139LDLRc.2568A>G (p.Gln856=)
c.*379A>G (n.*379A>G)
c.2190A>G (p.Gln730=)
c.2310A>G (p.Gln770=)
c.2564A>G
c.1806A>G (p.Gln602=)
c.2187A>G (p.Gln729=)
c.1776A>G (p.Gln592=)
c.1929A>G (p.Gln643=)
n.2320A>G
n.2644A>G
n.2287A>G
19g.11123343A>TCA404095879LDLRc.2568A>T (p.Gln856His)
c.*379A>T (n.*379A>T)
c.2190A>T (p.Gln730His)
c.2310A>T (p.Gln770His)
c.2564A>T
c.1806A>T (p.Gln602His)
c.2187A>T (p.Gln729His)
c.1776A>T (p.Gln592His)
c.1929A>T (p.Gln643His)
n.2320A>T
n.2644A>T
n.2287A>T
19g.11123344G>ACA404095882LDLRc.2569G>A (p.Ala857Thr)
c.*380G>A (n.*380G>A)
c.2191G>A (p.Ala731Thr)
c.2311G>A (p.Ala771Thr)
c.2565G>A
c.1807G>A (p.Ala603Thr)
c.2188G>A (p.Ala730Thr)
c.1777G>A (p.Ala593Thr)
c.2311G>A (p.Val771Met)
c.1930G>A (p.Ala644Thr)
n.2321G>A
n.2645G>A
n.2288G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123344G>CCA404095885LDLRc.2569G>C (p.Ala857Pro)
c.*380G>C (n.*380G>C)
c.2191G>C (p.Ala731Pro)
c.2311G>C (p.Ala771Pro)
c.2565G>C
c.1807G>C (p.Ala603Pro)
c.2188G>C (p.Ala730Pro)
c.1777G>C (p.Ala593Pro)
c.2311G>C (p.Val771Leu)
c.1930G>C (p.Ala644Pro)
n.2321G>C
n.2645G>C
n.2288G>C
 gnomAD v4
19g.11123344G=CA2322777279LDLRc.2569G= (p.Ala857=)
c.*380G= (n.*380G=)
c.2191G= (p.Ala731=)
c.2311G= (p.Ala771=)
c.2565G=
c.1807G= (p.Ala603=)
c.2188G= (p.Ala730=)
c.1777G= (p.Ala593=)
c.2311G= (p.Val771=)
c.1930G= (p.Ala644=)
n.2321G=
n.2645G=
n.2288G=
19g.11123344G>TCA404095888LDLRc.2569G>T (p.Ala857Ser)
c.*380G>T (n.*380G>T)
c.2191G>T (p.Ala731Ser)
c.2311G>T (p.Ala771Ser)
c.2565G>T
c.1807G>T (p.Ala603Ser)
c.2188G>T (p.Ala730Ser)
c.1777G>T (p.Ala593Ser)
c.2311G>T (p.Val771Leu)
c.1930G>T (p.Ala644Ser)
n.2321G>T
n.2645G>T
n.2288G>T
19g.11123344_11123359delCA2497030106LDLRc.2569_2569+15del
c.*380_*380+15del
c.2191_2191+15del
c.2311_2311+15del
c.2565_2565+15del
c.1807_1807+15del
c.2188_2188+15del
c.1777_1777+15del
c.1930_1930+15del
n.2321_2321+15del
n.2645_2645+15del
n.2288_2288+15del
19g.11123345G>ACA10585819LDLRc.2569+1G>A (n.2569+1G>A)
c.*380+1G>A (n.*380+1G>A)
c.2191+1G>A (n.2191+1G>A)
c.2311+1G>A (n.2311+1G>A)
c.2565+1G>A
c.1807+1G>A (n.1807+1G>A)
c.2188+1G>A (n.2188+1G>A)
c.1777+1G>A (n.1777+1G>A)
c.1930+1G>A (n.1930+1G>A)
n.2321+1G>A
n.2645+1G>A
n.2288+1G>A
 ClinVar dbSNP gnomAD v4
19g.11123345G>CCA10585820LDLRc.2569+1G>C (n.2569+1G>C)
c.*380+1G>C (n.*380+1G>C)
c.2191+1G>C (n.2191+1G>C)
c.2311+1G>C (n.2311+1G>C)
c.2565+1G>C
c.1807+1G>C (n.1807+1G>C)
c.2188+1G>C (n.2188+1G>C)
c.1777+1G>C (n.1777+1G>C)
c.1930+1G>C (n.1930+1G>C)
n.2321+1G>C
n.2645+1G>C
n.2288+1G>C
 ClinVar dbSNP
19g.11123345G=CA2322777280LDLRc.2569+1G= (n.2569+1G=)
c.*380+1G= (n.*380+1G=)
c.2191+1G= (n.2191+1G=)
c.2311+1G= (n.2311+1G=)
c.2565+1G=
c.1807+1G= (n.1807+1G=)
c.2188+1G= (n.2188+1G=)
c.1777+1G= (n.1777+1G=)
c.1930+1G= (n.1930+1G=)
n.2321+1G=
n.2645+1G=
n.2288+1G=
19g.11123345G>TCA10585821LDLRc.2569+1G>T (n.2569+1G>T)
c.*380+1G>T (n.*380+1G>T)
c.2191+1G>T (n.2191+1G>T)
c.2311+1G>T (n.2311+1G>T)
c.2565+1G>T
c.1807+1G>T (n.1807+1G>T)
c.2188+1G>T (n.2188+1G>T)
c.1777+1G>T (n.1777+1G>T)
c.1930+1G>T (n.1930+1G>T)
n.2321+1G>T
n.2645+1G>T
n.2288+1G>T
 ClinVar dbSNP
19g.11123345_11123350delinsTCA2695202614LDLRc.2569+1_2569+6delinsT (n.2569+1_2569+6delinsT)
c.*380+1_*380+6delinsT (n.*380+1_*380+6delinsT)
c.2191+1_2191+6delinsT (n.2191+1_2191+6delinsT)
c.2311+1_2311+6delinsT (n.2311+1_2311+6delinsT)
c.2565+1_2565+6delinsT
c.1807+1_1807+6delinsT (n.1807+1_1807+6delinsT)
c.2188+1_2188+6delinsT (n.2188+1_2188+6delinsT)
c.1777+1_1777+6delinsT (n.1777+1_1777+6delinsT)
c.1930+1_1930+6delinsT (n.1930+1_1930+6delinsT)
n.2321+1_2321+6delinsT
n.2645+1_2645+6delinsT
n.2288+1_2288+6delinsT
19g.11123346T>ACA404095900LDLRc.2569+2T>A (n.2569+2T>A)
c.*380+2T>A (n.*380+2T>A)
c.2191+2T>A (n.2191+2T>A)
c.2311+2T>A (n.2311+2T>A)
c.2565+2T>A
c.1807+2T>A (n.1807+2T>A)
c.2188+2T>A (n.2188+2T>A)
c.1777+2T>A (n.1777+2T>A)
c.1930+2T>A (n.1930+2T>A)
n.2321+2T>A
n.2645+2T>A
n.2288+2T>A
19g.11123346T>CCA404095904LDLRc.2569+2T>C (n.2569+2T>C)
c.*380+2T>C (n.*380+2T>C)
c.2191+2T>C (n.2191+2T>C)
c.2311+2T>C (n.2311+2T>C)
c.2565+2T>C
c.1807+2T>C (n.1807+2T>C)
c.2188+2T>C (n.2188+2T>C)
c.1777+2T>C (n.1777+2T>C)
c.1930+2T>C (n.1930+2T>C)
n.2321+2T>C
n.2645+2T>C
n.2288+2T>C
19g.11123346T>GCA10585822LDLRc.2569+2T>G (n.2569+2T>G)
c.*380+2T>G (n.*380+2T>G)
c.2191+2T>G (n.2191+2T>G)
c.2311+2T>G (n.2311+2T>G)
c.2565+2T>G
c.1807+2T>G (n.1807+2T>G)
c.2188+2T>G (n.2188+2T>G)
c.1777+2T>G (n.1777+2T>G)
c.1930+2T>G (n.1930+2T>G)
n.2321+2T>G
n.2645+2T>G
n.2288+2T>G
 ClinVar dbSNP
19g.11123346T=CA2322777281LDLRc.2569+2T= (n.2569+2T=)
c.*380+2T= (n.*380+2T=)
c.2191+2T= (n.2191+2T=)
c.2311+2T= (n.2311+2T=)
c.2565+2T=
c.1807+2T= (n.1807+2T=)
c.2188+2T= (n.2188+2T=)
c.1777+2T= (n.1777+2T=)
c.1930+2T= (n.1930+2T=)
n.2321+2T=
n.2645+2T=
n.2288+2T=
19g.11123348A>GCA2582475495LDLRc.2569+4A>G (n.2569+4A>G)
c.*380+4A>G (n.*380+4A>G)
c.2191+4A>G (n.2191+4A>G)
c.2311+4A>G (n.2311+4A>G)
c.2565+4A>G
c.1807+4A>G (n.1807+4A>G)
c.2188+4A>G (n.2188+4A>G)
c.1777+4A>G (n.1777+4A>G)
c.1930+4A>G (n.1930+4A>G)
n.2321+4A>G
n.2645+4A>G
n.2288+4A>G
 gnomAD v4
19g.11123350G>ACA2582475496LDLRc.2569+6G>A (n.2569+6G>A)
c.*380+6G>A (n.*380+6G>A)
c.2191+6G>A (n.2191+6G>A)
c.2311+6G>A (n.2311+6G>A)
c.2565+6G>A
c.1807+6G>A (n.1807+6G>A)
c.2188+6G>A (n.2188+6G>A)
c.1777+6G>A (n.1777+6G>A)
c.1930+6G>A (n.1930+6G>A)
n.2321+6G>A
n.2645+6G>A
n.2288+6G>A
 gnomAD v4
19g.11123350G=CA2322777282LDLRc.2569+6G= (n.2569+6G=)
c.*380+6G= (n.*380+6G=)
c.2191+6G= (n.2191+6G=)
c.2311+6G= (n.2311+6G=)
c.2565+6G=
c.1807+6G= (n.1807+6G=)
c.2188+6G= (n.2188+6G=)
c.1777+6G= (n.1777+6G=)
c.1930+6G= (n.1930+6G=)
n.2321+6G=
n.2645+6G=
n.2288+6G=
19g.11123350G>TCA039526LDLRc.2569+6G>T (n.2569+6G>T)
c.*380+6G>T (n.*380+6G>T)
c.2191+6G>T (n.2191+6G>T)
c.2311+6G>T (n.2311+6G>T)
c.2565+6G>T
c.1807+6G>T (n.1807+6G>T)
c.2188+6G>T (n.2188+6G>T)
c.1777+6G>T (n.1777+6G>T)
c.1930+6G>T (n.1930+6G>T)
n.2321+6G>T
n.2645+6G>T
n.2288+6G>T
 dbSNP ExAC
19g.11123351A>GCA2739276486LDLRc.2569+7A>G (n.2569+7A>G)
c.*380+7A>G (n.*380+7A>G)
c.2191+7A>G (n.2191+7A>G)
c.2311+7A>G (n.2311+7A>G)
c.2565+7A>G
c.1807+7A>G (n.1807+7A>G)
c.2188+7A>G (n.2188+7A>G)
c.1777+7A>G (n.1777+7A>G)
c.1930+7A>G (n.1930+7A>G)
n.2321+7A>G
n.2645+7A>G
n.2288+7A>G
 ClinVar
19g.11123351A>TCA2582475497LDLRc.2569+7A>T (n.2569+7A>T)
c.*380+7A>T (n.*380+7A>T)
c.2191+7A>T (n.2191+7A>T)
c.2311+7A>T (n.2311+7A>T)
c.2565+7A>T
c.1807+7A>T (n.1807+7A>T)
c.2188+7A>T (n.2188+7A>T)
c.1777+7A>T (n.1777+7A>T)
c.1930+7A>T (n.1930+7A>T)
n.2321+7A>T
n.2645+7A>T
n.2288+7A>T
 gnomAD v4
19g.11123352C=CA2322777283LDLRc.2569+8C= (n.2569+8C=)
c.*380+8C= (n.*380+8C=)
c.2191+8C= (n.2191+8C=)
c.2311+8C= (n.2311+8C=)
c.2565+8C=
c.1807+8C= (n.1807+8C=)
c.2188+8C= (n.2188+8C=)
c.1777+8C= (n.1777+8C=)
c.1930+8C= (n.1930+8C=)
n.2321+8C=
n.2645+8C=
n.2288+8C=
19g.11123352C>TCA039540LDLRc.2569+8C>T (n.2569+8C>T)
c.*380+8C>T (n.*380+8C>T)
c.2191+8C>T (n.2191+8C>T)
c.2311+8C>T (n.2311+8C>T)
c.2565+8C>T
c.1807+8C>T (n.1807+8C>T)
c.2188+8C>T (n.2188+8C>T)
c.1777+8C>T (n.1777+8C>T)
c.1930+8C>T (n.1930+8C>T)
n.2321+8C>T
n.2645+8C>T
n.2288+8C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123353T>GCA305305335LDLRc.2569+9T>G (n.2569+9T>G)
c.*380+9T>G (n.*380+9T>G)
c.2191+9T>G (n.2191+9T>G)
c.2311+9T>G (n.2311+9T>G)
c.2565+9T>G
c.1807+9T>G (n.1807+9T>G)
c.2188+9T>G (n.2188+9T>G)
c.1777+9T>G (n.1777+9T>G)
c.1930+9T>G (n.1930+9T>G)
n.2321+9T>G
n.2645+9T>G
n.2288+9T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11123353T=CA2322777284LDLRc.2569+9T= (n.2569+9T=)
c.*380+9T= (n.*380+9T=)
c.2191+9T= (n.2191+9T=)
c.2311+9T= (n.2311+9T=)
c.2565+9T=
c.1807+9T= (n.1807+9T=)
c.2188+9T= (n.2188+9T=)
c.1777+9T= (n.1777+9T=)
c.1930+9T= (n.1930+9T=)
n.2321+9T=
n.2645+9T=
n.2288+9T=
19g.11123354G>ACA913191086LDLRc.2569+10G>A (n.2569+10G>A)
c.*380+10G>A (n.*380+10G>A)
c.2191+10G>A (n.2191+10G>A)
c.2311+10G>A (n.2311+10G>A)
c.2565+10G>A
c.1807+10G>A (n.1807+10G>A)
c.2188+10G>A (n.2188+10G>A)
c.1777+10G>A (n.1777+10G>A)
c.1930+10G>A (n.1930+10G>A)
n.2321+10G>A
n.2645+10G>A
n.2288+10G>A
 ClinVar dbSNP gnomAD v4
19g.11123354G>CCA2582475498LDLRc.2569+10G>C (n.2569+10G>C)
c.*380+10G>C (n.*380+10G>C)
c.2191+10G>C (n.2191+10G>C)
c.2311+10G>C (n.2311+10G>C)
c.2565+10G>C
c.1807+10G>C (n.1807+10G>C)
c.2188+10G>C (n.2188+10G>C)
c.1777+10G>C (n.1777+10G>C)
c.1930+10G>C (n.1930+10G>C)
n.2321+10G>C
n.2645+10G>C
n.2288+10G>C
 gnomAD v4
19g.11123354G=CA2322777285LDLRc.2569+10G= (n.2569+10G=)
c.*380+10G= (n.*380+10G=)
c.2191+10G= (n.2191+10G=)
c.2311+10G= (n.2311+10G=)
c.2565+10G=
c.1807+10G= (n.1807+10G=)
c.2188+10G= (n.2188+10G=)
c.1777+10G= (n.1777+10G=)
c.1930+10G= (n.1930+10G=)
n.2321+10G=
n.2645+10G=
n.2288+10G=
19g.11123356G>CCA2739276487LDLRc.2569+12G>C (n.2569+12G>C)
c.*380+12G>C (n.*380+12G>C)
c.2191+12G>C (n.2191+12G>C)
c.2311+12G>C (n.2311+12G>C)
c.2565+12G>C
c.1807+12G>C (n.1807+12G>C)
c.2188+12G>C (n.2188+12G>C)
c.1777+12G>C (n.1777+12G>C)
c.1930+12G>C (n.1930+12G>C)
n.2321+12G>C
n.2645+12G>C
n.2288+12G>C
 ClinVar
19g.11123356G=CA2322777286LDLRc.2569+12G= (n.2569+12G=)
c.*380+12G= (n.*380+12G=)
c.2191+12G= (n.2191+12G=)
c.2311+12G= (n.2311+12G=)
c.2565+12G=
c.1807+12G= (n.1807+12G=)
c.2188+12G= (n.2188+12G=)
c.1777+12G= (n.1777+12G=)
c.1930+12G= (n.1930+12G=)
n.2321+12G=
n.2645+12G=
n.2288+12G=
19g.11123356G>TCA993522247LDLRc.2569+12G>T (n.2569+12G>T)
c.*380+12G>T (n.*380+12G>T)
c.2191+12G>T (n.2191+12G>T)
c.2311+12G>T (n.2311+12G>T)
c.2565+12G>T
c.1807+12G>T (n.1807+12G>T)
c.2188+12G>T (n.2188+12G>T)
c.1777+12G>T (n.1777+12G>T)
c.1930+12G>T (n.1930+12G>T)
n.2321+12G>T
n.2645+12G>T
n.2288+12G>T
 dbSNP gnomAD v3 gnomAD v4
19g.11123357C=CA2322777287LDLRc.2569+13C= (n.2569+13C=)
c.*380+13C= (n.*380+13C=)
c.2191+13C= (n.2191+13C=)
c.2311+13C= (n.2311+13C=)
c.2565+13C=
c.1807+13C= (n.1807+13C=)
c.2188+13C= (n.2188+13C=)
c.1777+13C= (n.1777+13C=)
c.1930+13C= (n.1930+13C=)
n.2321+13C=
n.2645+13C=
n.2288+13C=
19g.11123357C>TCA993522249LDLRc.2569+13C>T (n.2569+13C>T)
c.*380+13C>T (n.*380+13C>T)
c.2191+13C>T (n.2191+13C>T)
c.2311+13C>T (n.2311+13C>T)
c.2565+13C>T
c.1807+13C>T (n.1807+13C>T)
c.2188+13C>T (n.2188+13C>T)
c.1777+13C>T (n.1777+13C>T)
c.1930+13C>T (n.1930+13C>T)
n.2321+13C>T
n.2645+13C>T
n.2288+13C>T
 dbSNP gnomAD v3 gnomAD v4
19g.11123359delCA2582475499LDLRc.2569+15del (n.2569+15del)
c.*380+15del (n.*380+15del)
c.2191+15del (n.2191+15del)
c.2311+15del (n.2311+15del)
c.2565+15del
c.1807+15del (n.1807+15del)
c.2188+15del (n.2188+15del)
c.1777+15del (n.1777+15del)
c.1930+15del (n.1930+15del)
n.2321+15del
n.2645+15del
n.2288+15del
 gnomAD v4
19g.11123358C>TCA2582475500LDLRc.2569+14C>T (n.2569+14C>T)
c.*380+14C>T (n.*380+14C>T)
c.2191+14C>T (n.2191+14C>T)
c.2311+14C>T (n.2311+14C>T)
c.2565+14C>T
c.1807+14C>T (n.1807+14C>T)
c.2188+14C>T (n.2188+14C>T)
c.1777+14C>T (n.1777+14C>T)
c.1930+14C>T (n.1930+14C>T)
n.2321+14C>T
n.2645+14C>T
n.2288+14C>T
 gnomAD v4
19g.11123359C=CA2322777288LDLRc.2569+15C= (n.2569+15C=)
c.*380+15C= (n.*380+15C=)
c.2191+15C= (n.2191+15C=)
c.2311+15C= (n.2311+15C=)
c.2565+15C=
c.1807+15C= (n.1807+15C=)
c.2188+15C= (n.2188+15C=)
c.1777+15C= (n.1777+15C=)
c.1930+15C= (n.1930+15C=)
n.2321+15C=
n.2645+15C=
n.2288+15C=
19g.11123360_11123364dupCA2322777289LDLRc.2569+16_2569+20dup (n.2569+16_2569+20dup)
c.*380+16_*380+20dup (n.*380+16_*380+20dup)
c.2191+16_2191+20dup (n.2191+16_2191+20dup)
c.2311+16_2311+20dup (n.2311+16_2311+20dup)
c.2565+16_2565+20dup
c.1807+16_1807+20dup (n.1807+16_1807+20dup)
c.2188+16_2188+20dup (n.2188+16_2188+20dup)
c.1777+16_1777+20dup (n.1777+16_1777+20dup)
c.1930+16_1930+20dup (n.1930+16_1930+20dup)
n.2321+16_2321+20dup
n.2645+16_2645+20dup
n.2288+16_2288+20dup
 dbSNP
19g.11123361C=CA2322777290LDLRc.2569+17C= (n.2569+17C=)
c.*380+17C= (n.*380+17C=)
c.2191+17C= (n.2191+17C=)
c.2311+17C= (n.2311+17C=)
c.2565+17C=
c.1807+17C= (n.1807+17C=)
c.2188+17C= (n.2188+17C=)
c.1777+17C= (n.1777+17C=)
c.1930+17C= (n.1930+17C=)
n.2321+17C=
n.2645+17C=
n.2288+17C=
19g.11123361C>TCA632115485LDLRc.2569+17C>T (n.2569+17C>T)
c.*380+17C>T (n.*380+17C>T)
c.2191+17C>T (n.2191+17C>T)
c.2311+17C>T (n.2311+17C>T)
c.2565+17C>T
c.1807+17C>T (n.1807+17C>T)
c.2188+17C>T (n.2188+17C>T)
c.1777+17C>T (n.1777+17C>T)
c.1930+17C>T (n.1930+17C>T)
n.2321+17C>T
n.2645+17C>T
n.2288+17C>T
 dbSNP gnomAD v2 gnomAD v4
19g.11123363delCA2576626181LDLRc.2569+19del (n.2569+19del)
c.*380+19del (n.*380+19del)
c.2191+19del (n.2191+19del)
c.2311+19del (n.2311+19del)
c.2565+19del
c.1807+19del (n.1807+19del)
c.2188+19del (n.2188+19del)
c.1777+19del (n.1777+19del)
c.1930+19del (n.1930+19del)
n.2321+19del
n.2645+19del
n.2288+19del
19g.11123362C=CA2322777291LDLRc.2569+18C= (n.2569+18C=)
c.*380+18C= (n.*380+18C=)
c.2191+18C= (n.2191+18C=)
c.2311+18C= (n.2311+18C=)
c.2565+18C=
c.1807+18C= (n.1807+18C=)
c.2188+18C= (n.2188+18C=)
c.1777+18C= (n.1777+18C=)
c.1930+18C= (n.1930+18C=)
n.2321+18C=
n.2645+18C=
n.2288+18C=
19g.11123362C>GCA632115486LDLRc.2569+18C>G (n.2569+18C>G)
c.*380+18C>G (n.*380+18C>G)
c.2191+18C>G (n.2191+18C>G)
c.2311+18C>G (n.2311+18C>G)
c.2565+18C>G
c.1807+18C>G (n.1807+18C>G)
c.2188+18C>G (n.2188+18C>G)
c.1777+18C>G (n.1777+18C>G)
c.1930+18C>G (n.1930+18C>G)
n.2321+18C>G
n.2645+18C>G
n.2288+18C>G
 dbSNP gnomAD v2 gnomAD v4
19g.11123363C>GCA2576626182LDLRc.2569+19C>G (n.2569+19C>G)
c.*380+19C>G (n.*380+19C>G)
c.2191+19C>G (n.2191+19C>G)
c.2311+19C>G (n.2311+19C>G)
c.2565+19C>G
c.1807+19C>G (n.1807+19C>G)
c.2188+19C>G (n.2188+19C>G)
c.1777+19C>G (n.1777+19C>G)
c.1930+19C>G (n.1930+19C>G)
n.2321+19C>G
n.2645+19C>G
n.2288+19C>G
 gnomAD v4
19g.11123364T>ACA039455LDLRc.2569+20T>A (n.2569+20T>A)
c.*380+20T>A (n.*380+20T>A)
c.2191+20T>A (n.2191+20T>A)
c.2311+20T>A (n.2311+20T>A)
c.2565+20T>A
c.1807+20T>A (n.1807+20T>A)
c.2188+20T>A (n.2188+20T>A)
c.1777+20T>A (n.1777+20T>A)
c.1930+20T>A (n.1930+20T>A)
n.2321+20T>A
n.2645+20T>A
n.2288+20T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11123364T>GCA2576626183LDLRc.2569+20T>G (n.2569+20T>G)
c.*380+20T>G (n.*380+20T>G)
c.2191+20T>G (n.2191+20T>G)
c.2311+20T>G (n.2311+20T>G)
c.2565+20T>G
c.1807+20T>G (n.1807+20T>G)
c.2188+20T>G (n.2188+20T>G)
c.1777+20T>G (n.1777+20T>G)
c.1930+20T>G (n.1930+20T>G)
n.2321+20T>G
n.2645+20T>G
n.2288+20T>G
 gnomAD v4
19g.11123364T=CA2322777292LDLRc.2569+20T= (n.2569+20T=)
c.*380+20T= (n.*380+20T=)
c.2191+20T= (n.2191+20T=)
c.2311+20T= (n.2311+20T=)
c.2565+20T=
c.1807+20T= (n.1807+20T=)
c.2188+20T= (n.2188+20T=)
c.1777+20T= (n.1777+20T=)
c.1930+20T= (n.1930+20T=)
n.2321+20T=
n.2645+20T=
n.2288+20T=
19g.11123365A>CCA2582475501LDLRc.2569+21A>C (n.2569+21A>C)
c.*380+21A>C (n.*380+21A>C)
c.2191+21A>C (n.2191+21A>C)
c.2311+21A>C (n.2311+21A>C)
c.2565+21A>C
c.1807+21A>C (n.1807+21A>C)
c.2188+21A>C (n.2188+21A>C)
c.1777+21A>C (n.1777+21A>C)
c.1930+21A>C (n.1930+21A>C)
n.2321+21A>C
n.2645+21A>C
n.2288+21A>C
 gnomAD v4
19g.11123366G>TCA2576626184LDLRc.2569+22G>T (n.2569+22G>T)
c.*380+22G>T (n.*380+22G>T)
c.2191+22G>T (n.2191+22G>T)
c.2311+22G>T (n.2311+22G>T)
c.2565+22G>T
c.1807+22G>T (n.1807+22G>T)
c.2188+22G>T (n.2188+22G>T)
c.1777+22G>T (n.1777+22G>T)
c.1930+22G>T (n.1930+22G>T)
n.2321+22G>T
n.2645+22G>T
n.2288+22G>T
 gnomAD v4

Number of alleles fetched