Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11113288_11123238delCA10585350LDLRc.1455_2463del
c.1197_*274del
c.1077_2085del
c.1197_2205del
c.1451_2459del
c.693_1701del
c.1074_2082del
c.816_1671del
c.816_1824del
n.1347_2215del
n.1314_2539del
n.1314_2182del
ClinVar
19g.11120093_11123345delCA2695202625LDLRc.2105_2569+1del
c.1707_*380+1del
c.1727_2191+1del
c.1847_2311+1del
c.2101_2565+1del
c.1343_1807+1del
c.1724_2188+1del
c.1466_1777+1del
c.1466_1930+1del
n.1857_2321+1del
n.1964_2645+1del
n.1824_2288+1del
19g.11120091_11123345delCA658824575LDLRc.2104-1_2569+1del
c.1706-1_*380+1del
c.1726-1_2191+1del
c.1846-1_2311+1del
c.2100-1_2565+1del
c.1342-1_1807+1del
c.1723-1_2188+1del
c.1465-1_1777+1del
c.1465-1_1930+1del
n.1856-1_2321+1del
n.1963-1_2645+1del
n.1823-1_2288+1del
ClinVar
19g.11120137_11124406delCA250475LDLRc.2149_2569+1062del
c.1751_*380+1062del
c.1771_2191+1062del
c.1891_2311+1062del
c.2145_2565+1062del
c.1387_1807+1062del
c.1768_2188+1062del
c.1510_1777+1062del
c.1510_1930+1062del
n.1901_2321+1062del
n.2008_2645+1062del
n.1868_2288+1062del
ClinVar
19g.11120137_11124409delCA916081229LDLRc.2149_2569+1065del
c.1751_*380+1065del
c.1771_2191+1065del
c.1891_2311+1065del
c.2145_2565+1065del
c.1387_1807+1065del
c.1768_2188+1065del
c.1510_1777+1065del
c.1510_1930+1065del
n.1901_2321+1065del
n.2008_2645+1065del
n.1868_2288+1065del
ClinVar
19g.11120137_11124409delinsCTCAGCACTTTGGGCA2573050615LDLRc.2149_2569+1065delinsCTCAGCACTTTGGG
c.1751_*380+1065delinsCTCAGCACTTTGGG
c.1771_2191+1065delinsCTCAGCACTTTGGG
c.1891_2311+1065delinsCTCAGCACTTTGGG
c.2145_2565+1065delinsCTCAGCACTTTGGG
c.1387_1807+1065delinsCTCAGCACTTTGGG
c.1768_2188+1065delinsCTCAGCACTTTGGG
c.1510_1777+1065delinsCTCAGCACTTTGGG
c.1510_1930+1065delinsCTCAGCACTTTGGG
n.1901_2321+1065delinsCTCAGCACTTTGGG
n.2008_2645+1065delinsCTCAGCACTTTGGG
n.1868_2288+1065delinsCTCAGCACTTTGGG
19g.11122220_11129195delCA2573320454LDLRc.2399-954_2648-318del
c.*210-954_*459-318del
c.2021-954_2270-318del
c.2141-954_2390-318del
c.2395-954_2644-318del
c.1637-954_1886-318del
c.2018-954_2267-318del
c.1607-954_1856-318del
c.2141-954_2390-256del
c.2141-954_2312-318del
c.1760-954_2009-318del
n.2151-954_2400-318del
n.2475-954_2724-318del
n.2118-954_2367-318del
19g.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.11123175G>ACA505486842LDLRc.2400G>A (p.Glu800=)
c.*211G>A (n.*211G>A)
c.2022G>A (p.Glu674=)
c.2142G>A (p.Glu714=)
c.2396G>A
c.1638G>A (p.Glu546=)
c.2019G>A (p.Glu673=)
c.1608G>A (p.Glu536=)
c.1761G>A (p.Glu587=)
n.2152G>A
n.2476G>A
n.2119G>A
19g.11123175G>CCA404094737LDLRc.2400G>C (p.Glu800Asp)
c.*211G>C (n.*211G>C)
c.2022G>C (p.Glu674Asp)
c.2142G>C (p.Glu714Asp)
c.2396G>C
c.1638G>C (p.Glu546Asp)
c.2019G>C (p.Glu673Asp)
c.1608G>C (p.Glu536Asp)
c.1761G>C (p.Glu587Asp)
n.2152G>C
n.2476G>C
n.2119G>C
19g.11123175G>TCA404094739LDLRc.2400G>T (p.Glu800Asp)
c.*211G>T (n.*211G>T)
c.2022G>T (p.Glu674Asp)
c.2142G>T (p.Glu714Asp)
c.2396G>T
c.1638G>T (p.Glu546Asp)
c.2019G>T (p.Glu673Asp)
c.1608G>T (p.Glu536Asp)
c.1761G>T (p.Glu587Asp)
n.2152G>T
n.2476G>T
n.2119G>T
19g.11123176G>ACA404094741LDLRc.2401G>A (p.Ala801Thr)
c.*212G>A (n.*212G>A)
c.2023G>A (p.Ala675Thr)
c.2143G>A (p.Ala715Thr)
c.2397G>A
c.1639G>A (p.Ala547Thr)
c.2020G>A (p.Ala674Thr)
c.1609G>A (p.Ala537Thr)
c.1762G>A (p.Ala588Thr)
n.2153G>A
n.2477G>A
n.2120G>A
dbSNP gnomAD v2
19g.11123176G>CCA404094742LDLRc.2401G>C (p.Ala801Pro)
c.*212G>C (n.*212G>C)
c.2023G>C (p.Ala675Pro)
c.2143G>C (p.Ala715Pro)
c.2397G>C
c.1639G>C (p.Ala547Pro)
c.2020G>C (p.Ala674Pro)
c.1609G>C (p.Ala537Pro)
c.1762G>C (p.Ala588Pro)
n.2153G>C
n.2477G>C
n.2120G>C
19g.11123176G=CA2322777163LDLRc.2401G= (p.Ala801=)
c.*212G= (n.*212G=)
c.2023G= (p.Ala675=)
c.2143G= (p.Ala715=)
c.2397G=
c.1639G= (p.Ala547=)
c.2020G= (p.Ala674=)
c.1609G= (p.Ala537=)
c.1762G= (p.Ala588=)
n.2153G=
n.2477G=
n.2120G=
19g.11123176G>TCA404094744LDLRc.2401G>T (p.Ala801Ser)
c.*212G>T (n.*212G>T)
c.2023G>T (p.Ala675Ser)
c.2143G>T (p.Ala715Ser)
c.2397G>T
c.1639G>T (p.Ala547Ser)
c.2020G>T (p.Ala674Ser)
c.1609G>T (p.Ala537Ser)
c.1762G>T (p.Ala588Ser)
n.2153G>T
n.2477G>T
n.2120G>T
19g.11123177C>ACA404094746LDLRc.2402C>A (p.Ala801Asp)
c.*213C>A (n.*213C>A)
c.2024C>A (p.Ala675Asp)
c.2144C>A (p.Ala715Asp)
c.2398C>A
c.1640C>A (p.Ala547Asp)
c.2021C>A (p.Ala674Asp)
c.1610C>A (p.Ala537Asp)
c.1763C>A (p.Ala588Asp)
n.2154C>A
n.2478C>A
n.2121C>A
19g.11123177C>GCA404094747LDLRc.2402C>G (p.Ala801Gly)
c.*213C>G (n.*213C>G)
c.2024C>G (p.Ala675Gly)
c.2144C>G (p.Ala715Gly)
c.2398C>G
c.1640C>G (p.Ala547Gly)
c.2021C>G (p.Ala674Gly)
c.1610C>G (p.Ala537Gly)
c.1763C>G (p.Ala588Gly)
n.2154C>G
n.2478C>G
n.2121C>G
19g.11123177C>TCA404094749LDLRc.2402C>T (p.Ala801Val)
c.*213C>T (n.*213C>T)
c.2024C>T (p.Ala675Val)
c.2144C>T (p.Ala715Val)
c.2398C>T
c.1640C>T (p.Ala547Val)
c.2021C>T (p.Ala674Val)
c.1610C>T (p.Ala537Val)
c.1763C>T (p.Ala588Val)
n.2154C>T
n.2478C>T
n.2121C>T
19g.11123178T>ACA505486845LDLRc.2403T>A (p.Ala801=)
c.*214T>A (n.*214T>A)
c.2025T>A (p.Ala675=)
c.2145T>A (p.Ala715=)
c.2399T>A
c.1641T>A (p.Ala547=)
c.2022T>A (p.Ala674=)
c.1611T>A (p.Ala537=)
c.1764T>A (p.Ala588=)
n.2155T>A
n.2479T>A
n.2122T>A
19g.11123178T>CCA505486846LDLRc.2403T>C (p.Ala801=)
c.*214T>C (n.*214T>C)
c.2025T>C (p.Ala675=)
c.2145T>C (p.Ala715=)
c.2399T>C
c.1641T>C (p.Ala547=)
c.2022T>C (p.Ala674=)
c.1611T>C (p.Ala537=)
c.1764T>C (p.Ala588=)
n.2155T>C
n.2479T>C
n.2122T>C
19g.11123178T>GCA505486844LDLRc.2403T>G (p.Ala801=)
c.*214T>G (n.*214T>G)
c.2025T>G (p.Ala675=)
c.2145T>G (p.Ala715=)
c.2399T>G
c.1641T>G (p.Ala547=)
c.2022T>G (p.Ala674=)
c.1611T>G (p.Ala537=)
c.1764T>G (p.Ala588=)
n.2155T>G
n.2479T>G
n.2122T>G
19g.11123179G>ACA10585792LDLRc.2404G>A (p.Glu802Lys)
c.*215G>A (n.*215G>A)
c.2026G>A (p.Glu676Lys)
c.2146G>A (p.Glu716Lys)
c.2400G>A
c.1642G>A (p.Glu548Lys)
c.2023G>A (p.Glu675Lys)
c.1612G>A (p.Glu538Lys)
c.1765G>A (p.Glu589Lys)
n.2156G>A
n.2480G>A
n.2123G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11123179G>CCA404094752LDLRc.2404G>C (p.Glu802Gln)
c.*215G>C (n.*215G>C)
c.2026G>C (p.Glu676Gln)
c.2146G>C (p.Glu716Gln)
c.2400G>C
c.1642G>C (p.Glu548Gln)
c.2023G>C (p.Glu675Gln)
c.1612G>C (p.Glu538Gln)
c.1765G>C (p.Glu589Gln)
n.2156G>C
n.2480G>C
n.2123G>C
19g.11123179G=CA2322777164LDLRc.2404G= (p.Glu802=)
c.*215G= (n.*215G=)
c.2026G= (p.Glu676=)
c.2146G= (p.Glu716=)
c.2400G=
c.1642G= (p.Glu548=)
c.2023G= (p.Glu675=)
c.1612G= (p.Glu538=)
c.1765G= (p.Glu589=)
n.2156G=
n.2480G=
n.2123G=
19g.11123179G>TCA404094753LDLRc.2404G>T (p.Glu802Ter)
c.*215G>T (n.*215G>T)
c.2026G>T (p.Glu676Ter)
c.2146G>T (p.Glu716Ter)
c.2400G>T
c.1642G>T (p.Glu548Ter)
c.2023G>T (p.Glu675Ter)
c.1612G>T (p.Glu538Ter)
c.1765G>T (p.Glu589Ter)
n.2156G>T
n.2480G>T
n.2123G>T
ClinVar dbSNP
19g.11123180A>CCA404094756LDLRc.2405A>C (p.Glu802Ala)
c.*216A>C (n.*216A>C)
c.2027A>C (p.Glu676Ala)
c.2147A>C (p.Glu716Ala)
c.2401A>C
c.1643A>C (p.Glu548Ala)
c.2024A>C (p.Glu675Ala)
c.1613A>C (p.Glu538Ala)
c.1766A>C (p.Glu589Ala)
n.2157A>C
n.2481A>C
n.2124A>C
ClinVar dbSNP gnomAD v4
19g.11123180A>GCA404094758LDLRc.2405A>G (p.Glu802Gly)
c.*216A>G (n.*216A>G)
c.2027A>G (p.Glu676Gly)
c.2147A>G (p.Glu716Gly)
c.2401A>G
c.1643A>G (p.Glu548Gly)
c.2024A>G (p.Glu675Gly)
c.1613A>G (p.Glu538Gly)
c.1766A>G (p.Glu589Gly)
n.2157A>G
n.2481A>G
n.2124A>G
gnomAD v4
19g.11123180A>TCA404094760LDLRc.2405A>T (p.Glu802Val)
c.*216A>T (n.*216A>T)
c.2027A>T (p.Glu676Val)
c.2147A>T (p.Glu716Val)
c.2401A>T
c.1643A>T (p.Glu548Val)
c.2024A>T (p.Glu675Val)
c.1613A>T (p.Glu538Val)
c.1766A>T (p.Glu589Val)
n.2157A>T
n.2481A>T
n.2124A>T
19g.11123181G>ACA505486847LDLRc.2406G>A (p.Glu802=)
c.*217G>A (n.*217G>A)
c.2028G>A (p.Glu676=)
c.2148G>A (p.Glu716=)
c.2402G>A
c.1644G>A (p.Glu548=)
c.2025G>A (p.Glu675=)
c.1614G>A (p.Glu538=)
c.1767G>A (p.Glu589=)
n.2158G>A
n.2482G>A
n.2125G>A
ClinVar dbSNP gnomAD v4
19g.11123181G>CCA404094762LDLRc.2406G>C (p.Glu802Asp)
c.*217G>C (n.*217G>C)
c.2028G>C (p.Glu676Asp)
c.2148G>C (p.Glu716Asp)
c.2402G>C
c.1644G>C (p.Glu548Asp)
c.2025G>C (p.Glu675Asp)
c.1614G>C (p.Glu538Asp)
c.1767G>C (p.Glu589Asp)
n.2158G>C
n.2482G>C
n.2125G>C
19g.11123181G=CA2322777165LDLRc.2406G= (p.Glu802=)
c.*217G= (n.*217G=)
c.2028G= (p.Glu676=)
c.2148G= (p.Glu716=)
c.2402G=
c.1644G= (p.Glu548=)
c.2025G= (p.Glu675=)
c.1614G= (p.Glu538=)
c.1767G= (p.Glu589=)
n.2158G=
n.2482G=
n.2125G=
19g.11123181G>TCA404094764LDLRc.2406G>T (p.Glu802Asp)
c.*217G>T (n.*217G>T)
c.2028G>T (p.Glu676Asp)
c.2148G>T (p.Glu716Asp)
c.2402G>T
c.1644G>T (p.Glu548Asp)
c.2025G>T (p.Glu675Asp)
c.1614G>T (p.Glu538Asp)
c.1767G>T (p.Glu589Asp)
n.2158G>T
n.2482G>T
n.2125G>T
19g.11123182G>ACA10576330LDLRc.2407G>A (p.Ala803Thr)
c.*218G>A (n.*218G>A)
c.2029G>A (p.Ala677Thr)
c.2149G>A (p.Ala717Thr)
c.2403G>A
c.1645G>A (p.Ala549Thr)
c.2026G>A (p.Ala676Thr)
c.1615G>A (p.Ala539Thr)
c.1768G>A (p.Ala590Thr)
n.2159G>A
n.2483G>A
n.2126G>A
ClinVar dbSNP gnomAD v4
19g.11123182G>CCA404094767LDLRc.2407G>C (p.Ala803Pro)
c.*218G>C (n.*218G>C)
c.2029G>C (p.Ala677Pro)
c.2149G>C (p.Ala717Pro)
c.2403G>C
c.1645G>C (p.Ala549Pro)
c.2026G>C (p.Ala676Pro)
c.1615G>C (p.Ala539Pro)
c.1768G>C (p.Ala590Pro)
n.2159G>C
n.2483G>C
n.2126G>C
19g.11123182G=CA2322777166LDLRc.2407G= (p.Ala803=)
c.*218G= (n.*218G=)
c.2029G= (p.Ala677=)
c.2149G= (p.Ala717=)
c.2403G=
c.1645G= (p.Ala549=)
c.2026G= (p.Ala676=)
c.1615G= (p.Ala539=)
c.1768G= (p.Ala590=)
n.2159G=
n.2483G=
n.2126G=
19g.11123182G>TCA404094766LDLRc.2407G>T (p.Ala803Ser)
c.*218G>T (n.*218G>T)
c.2029G>T (p.Ala677Ser)
c.2149G>T (p.Ala717Ser)
c.2403G>T
c.1645G>T (p.Ala549Ser)
c.2026G>T (p.Ala676Ser)
c.1615G>T (p.Ala539Ser)
c.1768G>T (p.Ala590Ser)
n.2159G>T
n.2483G>T
n.2126G>T
19g.11123183C>ACA404094769LDLRc.2408C>A (p.Ala803Asp)
c.*219C>A (n.*219C>A)
c.2030C>A (p.Ala677Asp)
c.2150C>A (p.Ala717Asp)
c.2404C>A
c.1646C>A (p.Ala549Asp)
c.2027C>A (p.Ala676Asp)
c.1616C>A (p.Ala539Asp)
c.1769C>A (p.Ala590Asp)
n.2160C>A
n.2484C>A
n.2127C>A
19g.11123183C=CA2322777167LDLRc.2408C= (p.Ala803=)
c.*219C= (n.*219C=)
c.2030C= (p.Ala677=)
c.2150C= (p.Ala717=)
c.2404C=
c.1646C= (p.Ala549=)
c.2027C= (p.Ala676=)
c.1616C= (p.Ala539=)
c.1769C= (p.Ala590=)
n.2160C=
n.2484C=
n.2127C=
19g.11123183C>GCA10585793LDLRc.2408C>G (p.Ala803Gly)
c.*219C>G (n.*219C>G)
c.2030C>G (p.Ala677Gly)
c.2150C>G (p.Ala717Gly)
c.2404C>G
c.1646C>G (p.Ala549Gly)
c.2027C>G (p.Ala676Gly)
c.1616C>G (p.Ala539Gly)
c.1769C>G (p.Ala590Gly)
n.2160C>G
n.2484C>G
n.2127C>G
ClinVar dbSNP
19g.11123183C>TCA404094772LDLRc.2408C>T (p.Ala803Val)
c.*219C>T (n.*219C>T)
c.2030C>T (p.Ala677Val)
c.2150C>T (p.Ala717Val)
c.2404C>T
c.1646C>T (p.Ala549Val)
c.2027C>T (p.Ala676Val)
c.1616C>T (p.Ala539Val)
c.1769C>T (p.Ala590Val)
n.2160C>T
n.2484C>T
n.2127C>T
19g.11123184T>ACA505486851LDLRc.2409T>A (p.Ala803=)
c.*220T>A (n.*220T>A)
c.2031T>A (p.Ala677=)
c.2151T>A (p.Ala717=)
c.2405T>A
c.1647T>A (p.Ala549=)
c.2028T>A (p.Ala676=)
c.1617T>A (p.Ala539=)
c.1770T>A (p.Ala590=)
n.2161T>A
n.2485T>A
n.2128T>A
19g.11123184T>CCA505486849LDLRc.2409T>C (p.Ala803=)
c.*220T>C (n.*220T>C)
c.2031T>C (p.Ala677=)
c.2151T>C (p.Ala717=)
c.2405T>C
c.1647T>C (p.Ala549=)
c.2028T>C (p.Ala676=)
c.1617T>C (p.Ala539=)
c.1770T>C (p.Ala590=)
n.2161T>C
n.2485T>C
n.2128T>C
19g.11123184T>GCA505486850LDLRc.2409T>G (p.Ala803=)
c.*220T>G (n.*220T>G)
c.2031T>G (p.Ala677=)
c.2151T>G (p.Ala717=)
c.2405T>G
c.1647T>G (p.Ala549=)
c.2028T>G (p.Ala676=)
c.1617T>G (p.Ala539=)
c.1770T>G (p.Ala590=)
n.2161T>G
n.2485T>G
n.2128T>G
19g.11123185G>ACA404094774LDLRc.2410G>A (p.Ala804Thr)
c.*221G>A (n.*221G>A)
c.2032G>A (p.Ala678Thr)
c.2152G>A (p.Ala718Thr)
c.2406G>A
c.1648G>A (p.Ala550Thr)
c.2029G>A (p.Ala677Thr)
c.1618G>A (p.Ala540Thr)
c.1771G>A (p.Ala591Thr)
n.2162G>A
n.2486G>A
n.2129G>A
19g.11123185G>CCA404094775LDLRc.2410G>C (p.Ala804Pro)
c.*221G>C (n.*221G>C)
c.2032G>C (p.Ala678Pro)
c.2152G>C (p.Ala718Pro)
c.2406G>C
c.1648G>C (p.Ala550Pro)
c.2029G>C (p.Ala677Pro)
c.1618G>C (p.Ala540Pro)
c.1771G>C (p.Ala591Pro)
n.2162G>C
n.2486G>C
n.2129G>C
19g.11123185G>TCA404094777LDLRc.2410G>T (p.Ala804Ser)
c.*221G>T (n.*221G>T)
c.2032G>T (p.Ala678Ser)
c.2152G>T (p.Ala718Ser)
c.2406G>T
c.1648G>T (p.Ala550Ser)
c.2029G>T (p.Ala677Ser)
c.1618G>T (p.Ala540Ser)
c.1771G>T (p.Ala591Ser)
n.2162G>T
n.2486G>T
n.2129G>T
gnomAD v4 COSMIC
19g.11123186C>ACA404094779LDLRc.2411C>A (p.Ala804Glu)
c.*222C>A (n.*222C>A)
c.2033C>A (p.Ala678Glu)
c.2153C>A (p.Ala718Glu)
c.2407C>A
c.1649C>A (p.Ala550Glu)
c.2030C>A (p.Ala677Glu)
c.1619C>A (p.Ala540Glu)
c.1772C>A (p.Ala591Glu)
n.2163C>A
n.2487C>A
n.2130C>A
19g.11123186C=CA2322777168LDLRc.2411C= (p.Ala804=)
c.*222C= (n.*222C=)
c.2033C= (p.Ala678=)
c.2153C= (p.Ala718=)
c.2407C=
c.1649C= (p.Ala550=)
c.2030C= (p.Ala677=)
c.1619C= (p.Ala540=)
c.1772C= (p.Ala591=)
n.2163C=
n.2487C=
n.2130C=
19g.11123186C>GCA404094781LDLRc.2411C>G (p.Ala804Gly)
c.*222C>G (n.*222C>G)
c.2033C>G (p.Ala678Gly)
c.2153C>G (p.Ala718Gly)
c.2407C>G
c.1649C>G (p.Ala550Gly)
c.2030C>G (p.Ala677Gly)
c.1619C>G (p.Ala540Gly)
c.1772C>G (p.Ala591Gly)
n.2163C>G
n.2487C>G
n.2130C>G

Number of alleles fetched