Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11113288_11123238del | CA10585350 | LDLR | c.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 |
19 | g.11120093_11123345del | CA2695202625 | LDLR | c.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 | |
19 | g.11120091_11123345del | CA658824575 | LDLR | c.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 |
19 | g.11120137_11124406del | CA250475 | LDLR | c.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 |
19 | g.11120137_11124409del | CA916081229 | LDLR | c.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 |
19 | g.11120137_11124409delinsCTCAGCACTTTGGG | CA2573050615 | LDLR | c.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 | |
19 | g.11122220_11129195del | CA2573320454 | LDLR | c.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 | |
19 | g.11123171_11123342delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA | CA2322777160 | LDLR | c.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 | |
19 | g.11123174_11123344del | CA645509293 | LDLR | c.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 |
19 | g.11123175G>A | CA505486842 | LDLR | c.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 | |
19 | g.11123175G>C | CA404094737 | LDLR | c.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 | |
19 | g.11123175G>T | CA404094739 | LDLR | c.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 | |
19 | g.11123176G>A | CA404094741 | LDLR | c.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 |
19 | g.11123176G>C | CA404094742 | LDLR | c.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 | |
19 | g.11123176G= | CA2322777163 | LDLR | c.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= | |
19 | g.11123176G>T | CA404094744 | LDLR | c.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 | |
19 | g.11123177C>A | CA404094746 | LDLR | c.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 | |
19 | g.11123177C>G | CA404094747 | LDLR | c.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 | |
19 | g.11123177C>T | CA404094749 | LDLR | c.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 | |
19 | g.11123178T>A | CA505486845 | LDLR | c.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 | |
19 | g.11123178T>C | CA505486846 | LDLR | c.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 | |
19 | g.11123178T>G | CA505486844 | LDLR | c.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 | |
19 | g.11123179G>A | CA10585792 | LDLR | c.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 |
19 | g.11123179G>C | CA404094752 | LDLR | c.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 | |
19 | g.11123179G= | CA2322777164 | LDLR | c.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= | |
19 | g.11123179G>T | CA404094753 | LDLR | c.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 |
19 | g.11123180A>C | CA404094756 | LDLR | c.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 |
19 | g.11123180A>G | CA404094758 | LDLR | c.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 |
19 | g.11123180A>T | CA404094760 | LDLR | c.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 | |
19 | g.11123181G>A | CA505486847 | LDLR | c.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 |
19 | g.11123181G>C | CA404094762 | LDLR | c.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 | |
19 | g.11123181G= | CA2322777165 | LDLR | c.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= | |
19 | g.11123181G>T | CA404094764 | LDLR | c.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 | |
19 | g.11123182G>A | CA10576330 | LDLR | c.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 |
19 | g.11123182G>C | CA404094767 | LDLR | c.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 | |
19 | g.11123182G= | CA2322777166 | LDLR | c.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= | |
19 | g.11123182G>T | CA404094766 | LDLR | c.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 | |
19 | g.11123183C>A | CA404094769 | LDLR | c.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 | |
19 | g.11123183C= | CA2322777167 | LDLR | c.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= | |
19 | g.11123183C>G | CA10585793 | LDLR | c.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 |
19 | g.11123183C>T | CA404094772 | LDLR | c.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 | |
19 | g.11123184T>A | CA505486851 | LDLR | c.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 | |
19 | g.11123184T>C | CA505486849 | LDLR | c.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 | |
19 | g.11123184T>G | CA505486850 | LDLR | c.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 | |
19 | g.11123185G>A | CA404094774 | LDLR | c.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 | |
19 | g.11123185G>C | CA404094775 | LDLR | c.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 | |
19 | g.11123185G>T | CA404094777 | LDLR | c.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 |
19 | g.11123186C>A | CA404094779 | LDLR | c.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 | |
19 | g.11123186C= | CA2322777168 | LDLR | c.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= | |
19 | g.11123186C>G | CA404094781 | LDLR | c.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 |