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.11123160A>G | CA2582475463 | LDLR | c.2399-14A>G (n.2399-14A>G) c.*210-14A>G (n.*210-14A>G) c.2021-14A>G (n.2021-14A>G) c.2141-14A>G (n.2141-14A>G) c.2395-14A>G c.1637-14A>G (n.1637-14A>G) c.2018-14A>G (n.2018-14A>G) c.1607-14A>G (n.1607-14A>G) c.1760-14A>G (n.1760-14A>G) n.2151-14A>G n.2475-14A>G n.2118-14A>G | gnomAD v4 |
19 | g.11123161T>G | CA2322777158 | LDLR | c.2399-13T>G (n.2399-13T>G) c.*210-13T>G (n.*210-13T>G) c.2021-13T>G (n.2021-13T>G) c.2141-13T>G (n.2141-13T>G) c.2395-13T>G c.1637-13T>G (n.1637-13T>G) c.2018-13T>G (n.2018-13T>G) c.1607-13T>G (n.1607-13T>G) c.1760-13T>G (n.1760-13T>G) n.2151-13T>G n.2475-13T>G n.2118-13T>G | dbSNP |
19 | g.11123161T= | CA2322777157 | LDLR | c.2399-13T= (n.2399-13T=) c.*210-13T= (n.*210-13T=) c.2021-13T= (n.2021-13T=) c.2141-13T= (n.2141-13T=) c.2395-13T= c.1637-13T= (n.1637-13T=) c.2018-13T= (n.2018-13T=) c.1607-13T= (n.1607-13T=) c.1760-13T= (n.1760-13T=) n.2151-13T= n.2475-13T= n.2118-13T= | |
19 | g.11123163del | CA2576626153 | LDLR | c.2399-11del (n.2399-11del) c.*210-11del (n.*210-11del) c.2021-11del (n.2021-11del) c.2141-11del (n.2141-11del) c.2395-11del c.1637-11del (n.1637-11del) c.2018-11del (n.2018-11del) c.1607-11del (n.1607-11del) c.1760-11del (n.1760-11del) n.2151-11del n.2475-11del n.2118-11del | |
19 | g.11123163T>C | CA2582475464 | LDLR | c.2399-11T>C (n.2399-11T>C) c.*210-11T>C (n.*210-11T>C) c.2021-11T>C (n.2021-11T>C) c.2141-11T>C (n.2141-11T>C) c.2395-11T>C c.1637-11T>C (n.1637-11T>C) c.2018-11T>C (n.2018-11T>C) c.1607-11T>C (n.1607-11T>C) c.1760-11T>C (n.1760-11T>C) n.2151-11T>C n.2475-11T>C n.2118-11T>C | gnomAD v4 |
19 | g.11123164A>G | CA2573054706 | LDLR | c.2399-10A>G (n.2399-10A>G) c.*210-10A>G (n.*210-10A>G) c.2021-10A>G (n.2021-10A>G) c.2141-10A>G (n.2141-10A>G) c.2395-10A>G c.1637-10A>G (n.1637-10A>G) c.2018-10A>G (n.2018-10A>G) c.1607-10A>G (n.1607-10A>G) c.1760-10A>G (n.1760-10A>G) n.2151-10A>G n.2475-10A>G n.2118-10A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11123164_11123167delinsATTC | CA2322777159 | LDLR | c.2399-10_2399-7delinsATTC (n.2399-10_2399-7delinsATTC) c.*210-10_*210-7delinsATTC (n.*210-10_*210-7delinsATTC) c.2021-10_2021-7delinsATTC (n.2021-10_2021-7delinsATTC) c.2141-10_2141-7delinsATTC (n.2141-10_2141-7delinsATTC) c.2395-10_2395-7delinsATTC c.1637-10_1637-7delinsATTC (n.1637-10_1637-7delinsATTC) c.2018-10_2018-7delinsATTC (n.2018-10_2018-7delinsATTC) c.1607-10_1607-7delinsATTC (n.1607-10_1607-7delinsATTC) c.1760-10_1760-7delinsATTC (n.1760-10_1760-7delinsATTC) n.2151-10_2151-7delinsATTC n.2475-10_2475-7delinsATTC n.2118-10_2118-7delinsATTC | |
19 | g.11123165T>C | CA2499225329 | LDLR | c.2399-9T>C (n.2399-9T>C) c.*210-9T>C (n.*210-9T>C) c.2021-9T>C (n.2021-9T>C) c.2141-9T>C (n.2141-9T>C) c.2395-9T>C c.1637-9T>C (n.1637-9T>C) c.2018-9T>C (n.2018-9T>C) c.1607-9T>C (n.1607-9T>C) c.1760-9T>C (n.1760-9T>C) n.2151-9T>C n.2475-9T>C n.2118-9T>C | ClinVar dbSNP |
19 | g.11123165T>G | CA2573050622 | LDLR | c.2399-9T>G (n.2399-9T>G) c.*210-9T>G (n.*210-9T>G) c.2021-9T>G (n.2021-9T>G) c.2141-9T>G (n.2141-9T>G) c.2395-9T>G c.1637-9T>G (n.1637-9T>G) c.2018-9T>G (n.2018-9T>G) c.1607-9T>G (n.1607-9T>G) c.1760-9T>G (n.1760-9T>G) n.2151-9T>G n.2475-9T>G n.2118-9T>G | |
19 | g.11123167_11123169del | CA039020 | LDLR | c.2399-7_2399-5del (n.2399-7_2399-5del) c.*210-7_*210-5del (n.*210-7_*210-5del) c.2021-7_2021-5del (n.2021-7_2021-5del) c.2141-7_2141-5del (n.2141-7_2141-5del) c.2395-7_2395-5del c.1637-7_1637-5del (n.1637-7_1637-5del) c.2018-7_2018-5del (n.2018-7_2018-5del) c.1607-7_1607-5del (n.1607-7_1607-5del) c.1760-7_1760-5del (n.1760-7_1760-5del) n.2151-7_2151-5del n.2475-7_2475-5del n.2118-7_2118-5del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123167C>A | CA2573156037 | LDLR | c.2399-7C>A (n.2399-7C>A) c.*210-7C>A (n.*210-7C>A) c.2021-7C>A (n.2021-7C>A) c.2141-7C>A (n.2141-7C>A) c.2395-7C>A c.1637-7C>A (n.1637-7C>A) c.2018-7C>A (n.2018-7C>A) c.1607-7C>A (n.1607-7C>A) c.1760-7C>A (n.1760-7C>A) n.2151-7C>A n.2475-7C>A n.2118-7C>A | ClinVar dbSNP |
19 | g.11123170del | CA2582475467 | LDLR | c.2399-4del (n.2399-4del) c.*210-4del (n.*210-4del) c.2021-4del (n.2021-4del) c.2141-4del (n.2141-4del) c.2395-4del c.1637-4del (n.1637-4del) c.2018-4del (n.2018-4del) c.1607-4del (n.1607-4del) c.1760-4del (n.1760-4del) n.2151-4del n.2475-4del n.2118-4del | gnomAD v4 |
19 | g.11123169T>C | CA2580613048 | LDLR | c.2399-5T>C (n.2399-5T>C) c.*210-5T>C (n.*210-5T>C) c.2021-5T>C (n.2021-5T>C) c.2141-5T>C (n.2141-5T>C) c.2395-5T>C c.1637-5T>C (n.1637-5T>C) c.2018-5T>C (n.2018-5T>C) c.1607-5T>C (n.1607-5T>C) c.1760-5T>C (n.1760-5T>C) n.2151-5T>C n.2475-5T>C n.2118-5T>C | ClinVar |
19 | g.11123171C>A | CA2573050623 | LDLR | c.2399-3C>A (n.2399-3C>A) c.*210-3C>A (n.*210-3C>A) c.2021-3C>A (n.2021-3C>A) c.2141-3C>A (n.2141-3C>A) c.2395-3C>A c.1637-3C>A (n.1637-3C>A) c.2018-3C>A (n.2018-3C>A) c.1607-3C>A (n.1607-3C>A) c.1760-3C>A (n.1760-3C>A) n.2151-3C>A n.2475-3C>A n.2118-3C>A | |
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.11123172del | CA2695228315 | LDLR | c.2399-2del (n.2399-2del) c.*210-2del (n.*210-2del) c.2021-2del (n.2021-2del) c.2141-2del (n.2141-2del) c.2395-2del c.1637-2del (n.1637-2del) c.2018-2del (n.2018-2del) c.1607-2del (n.1607-2del) c.1760-2del (n.1760-2del) n.2151-2del n.2475-2del n.2118-2del | |
19 | g.11123172A= | CA2322777161 | LDLR | c.2399-2A= (n.2399-2A=) c.*210-2A= (n.*210-2A=) c.2021-2A= (n.2021-2A=) c.2141-2A= (n.2141-2A=) c.2395-2A= c.1637-2A= (n.1637-2A=) c.2018-2A= (n.2018-2A=) c.1607-2A= (n.1607-2A=) c.1760-2A= (n.1760-2A=) n.2151-2A= n.2475-2A= n.2118-2A= | |
19 | g.11123172A>C | CA404094721 | LDLR | c.2399-2A>C (n.2399-2A>C) c.*210-2A>C (n.*210-2A>C) c.2021-2A>C (n.2021-2A>C) c.2141-2A>C (n.2141-2A>C) c.2395-2A>C c.1637-2A>C (n.1637-2A>C) c.2018-2A>C (n.2018-2A>C) c.1607-2A>C (n.1607-2A>C) c.1760-2A>C (n.1760-2A>C) n.2151-2A>C n.2475-2A>C n.2118-2A>C | |
19 | g.11123172A>G | CA404094723 | LDLR | c.2399-2A>G (n.2399-2A>G) c.*210-2A>G (n.*210-2A>G) c.2021-2A>G (n.2021-2A>G) c.2141-2A>G (n.2141-2A>G) c.2395-2A>G c.1637-2A>G (n.1637-2A>G) c.2018-2A>G (n.2018-2A>G) c.1607-2A>G (n.1607-2A>G) c.1760-2A>G (n.1760-2A>G) n.2151-2A>G n.2475-2A>G n.2118-2A>G | ClinVar dbSNP |
19 | g.11123172A>T | CA404094725 | LDLR | c.2399-2A>T (n.2399-2A>T) c.*210-2A>T (n.*210-2A>T) c.2021-2A>T (n.2021-2A>T) c.2141-2A>T (n.2141-2A>T) c.2395-2A>T c.1637-2A>T (n.1637-2A>T) c.2018-2A>T (n.2018-2A>T) c.1607-2A>T (n.1607-2A>T) c.1760-2A>T (n.1760-2A>T) n.2151-2A>T n.2475-2A>T n.2118-2A>T | |
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.11123173G>A | CA404094727 | LDLR | c.2399-1G>A (n.2399-1G>A) c.*210-1G>A (n.*210-1G>A) c.2021-1G>A (n.2021-1G>A) c.2141-1G>A (n.2141-1G>A) c.2395-1G>A c.1637-1G>A (n.1637-1G>A) c.2018-1G>A (n.2018-1G>A) c.1607-1G>A (n.1607-1G>A) c.1760-1G>A (n.1760-1G>A) n.2151-1G>A n.2475-1G>A n.2118-1G>A | |
19 | g.11123173G>C | CA404094728 | LDLR | c.2399-1G>C (n.2399-1G>C) c.*210-1G>C (n.*210-1G>C) c.2021-1G>C (n.2021-1G>C) c.2141-1G>C (n.2141-1G>C) c.2395-1G>C c.1637-1G>C (n.1637-1G>C) c.2018-1G>C (n.2018-1G>C) c.1607-1G>C (n.1607-1G>C) c.1760-1G>C (n.1760-1G>C) n.2151-1G>C n.2475-1G>C n.2118-1G>C | ClinVar |
19 | g.11123173G>T | CA404094730 | LDLR | c.2399-1G>T (n.2399-1G>T) c.*210-1G>T (n.*210-1G>T) c.2021-1G>T (n.2021-1G>T) c.2141-1G>T (n.2141-1G>T) c.2395-1G>T c.1637-1G>T (n.1637-1G>T) c.2018-1G>T (n.2018-1G>T) c.1607-1G>T (n.1607-1G>T) c.1760-1G>T (n.1760-1G>T) n.2151-1G>T n.2475-1G>T n.2118-1G>T | |
19 | g.11123174A= | CA2322777162 | LDLR | c.2399A= (p.Glu800=) c.*210A= (n.*210A=) c.2021A= (p.Glu674=) c.2141A= (p.Glu714=) c.2395A= c.1637A= (p.Glu546=) c.2018A= (p.Glu673=) c.1607A= (p.Glu536=) c.1760A= (p.Glu587=) n.2151A= n.2475A= n.2118A= | |
19 | g.11123174A>C | CA404094732 | LDLR | c.2399A>C (p.Glu800Ala) c.*210A>C (n.*210A>C) c.2021A>C (p.Glu674Ala) c.2141A>C (p.Glu714Ala) c.2395A>C c.1637A>C (p.Glu546Ala) c.2018A>C (p.Glu673Ala) c.1607A>C (p.Glu536Ala) c.1760A>C (p.Glu587Ala) n.2151A>C n.2475A>C n.2118A>C | ClinVar dbSNP gnomAD v4 |
19 | g.11123174A>G | CA404094733 | LDLR | c.2399A>G (p.Glu800Gly) c.*210A>G (n.*210A>G) c.2021A>G (p.Glu674Gly) c.2141A>G (p.Glu714Gly) c.2395A>G c.1637A>G (p.Glu546Gly) c.2018A>G (p.Glu673Gly) c.1607A>G (p.Glu536Gly) c.1760A>G (p.Glu587Gly) n.2151A>G n.2475A>G n.2118A>G | |
19 | g.11123174A>T | CA404094735 | LDLR | c.2399A>T (p.Glu800Val) c.*210A>T (n.*210A>T) c.2021A>T (p.Glu674Val) c.2141A>T (p.Glu714Val) c.2395A>T c.1637A>T (p.Glu546Val) c.2018A>T (p.Glu673Val) c.1607A>T (p.Glu536Val) c.1760A>T (p.Glu587Val) n.2151A>T n.2475A>T n.2118A>T | |
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 | |
19 | g.11123186C>T | CA039040 | LDLR | c.2411C>T (p.Ala804Val) c.*222C>T (n.*222C>T) c.2033C>T (p.Ala678Val) c.2153C>T (p.Ala718Val) c.2407C>T c.1649C>T (p.Ala550Val) c.2030C>T (p.Ala677Val) c.1619C>T (p.Ala540Val) c.1772C>T (p.Ala591Val) n.2163C>T n.2487C>T n.2130C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123187A= | CA2322777169 | LDLR | c.2412A= (p.Ala804=) c.*223A= (n.*223A=) c.2034A= (p.Ala678=) c.2154A= (p.Ala718=) c.2408A= c.1650A= (p.Ala550=) c.2031A= (p.Ala677=) c.1620A= (p.Ala540=) c.1773A= (p.Ala591=) n.2164A= n.2488A= n.2131A= | |
19 | g.11123187A>C | CA039049 | LDLR | c.2412A>C (p.Ala804=) c.*223A>C (n.*223A>C) c.2034A>C (p.Ala678=) c.2154A>C (p.Ala718=) c.2408A>C c.1650A>C (p.Ala550=) c.2031A>C (p.Ala677=) c.1620A>C (p.Ala540=) c.1773A>C (p.Ala591=) n.2164A>C n.2488A>C n.2131A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123187A>G | CA505486853 | LDLR | c.2412A>G (p.Ala804=) c.*223A>G (n.*223A>G) c.2034A>G (p.Ala678=) c.2154A>G (p.Ala718=) c.2408A>G c.1650A>G (p.Ala550=) c.2031A>G (p.Ala677=) c.1620A>G (p.Ala540=) c.1773A>G (p.Ala591=) n.2164A>G n.2488A>G n.2131A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123187A>T | CA505486854 | LDLR | c.2412A>T (p.Ala804=) c.*223A>T (n.*223A>T) c.2034A>T (p.Ala678=) c.2154A>T (p.Ala718=) c.2408A>T c.1650A>T (p.Ala550=) c.2031A>T (p.Ala677=) c.1620A>T (p.Ala540=) c.1773A>T (p.Ala591=) n.2164A>T n.2488A>T n.2131A>T | |
19 | g.11123188G>A | CA404094788 | LDLR | c.2413G>A (p.Val805Met) c.*224G>A (n.*224G>A) c.2035G>A (p.Val679Met) c.2155G>A (p.Val719Met) c.2409G>A c.1651G>A (p.Val551Met) c.2032G>A (p.Val678Met) c.1621G>A (p.Val541Met) c.1774G>A (p.Val592Met) n.2165G>A n.2489G>A n.2132G>A | |
19 | g.11123188G>C | CA10585794 | LDLR | c.2413G>C (p.Val805Leu) c.*224G>C (n.*224G>C) c.2035G>C (p.Val679Leu) c.2155G>C (p.Val719Leu) c.2409G>C c.1651G>C (p.Val551Leu) c.2032G>C (p.Val678Leu) c.1621G>C (p.Val541Leu) c.1774G>C (p.Val592Leu) n.2165G>C n.2489G>C n.2132G>C | ClinVar dbSNP |
19 | g.11123188G= | CA2322777170 | LDLR | c.2413G= (p.Val805=) c.*224G= (n.*224G=) c.2035G= (p.Val679=) c.2155G= (p.Val719=) c.2409G= c.1651G= (p.Val551=) c.2032G= (p.Val678=) c.1621G= (p.Val541=) c.1774G= (p.Val592=) n.2165G= n.2489G= n.2132G= | |
19 | g.11123188G>T | CA404094785 | LDLR | c.2413G>T (p.Val805Leu) c.*224G>T (n.*224G>T) c.2035G>T (p.Val679Leu) c.2155G>T (p.Val719Leu) c.2409G>T c.1651G>T (p.Val551Leu) c.2032G>T (p.Val678Leu) c.1621G>T (p.Val541Leu) c.1774G>T (p.Val592Leu) n.2165G>T n.2489G>T n.2132G>T | |
19 | g.11123189T>A | CA404094790 | LDLR | c.2414T>A (p.Val805Glu) c.*225T>A (n.*225T>A) c.2036T>A (p.Val679Glu) c.2156T>A (p.Val719Glu) c.2410T>A c.1652T>A (p.Val551Glu) c.2033T>A (p.Val678Glu) c.1622T>A (p.Val541Glu) c.1775T>A (p.Val592Glu) n.2166T>A n.2490T>A n.2133T>A | |
19 | g.11123189T>C | CA305305058 | LDLR | c.2414T>C (p.Val805Ala) c.*225T>C (n.*225T>C) c.2036T>C (p.Val679Ala) c.2156T>C (p.Val719Ala) c.2410T>C c.1652T>C (p.Val551Ala) c.2033T>C (p.Val678Ala) c.1622T>C (p.Val541Ala) c.1775T>C (p.Val592Ala) n.2166T>C n.2490T>C n.2133T>C | dbSNP |
19 | g.11123189T>G | CA404094792 | LDLR | c.2414T>G (p.Val805Gly) c.*225T>G (n.*225T>G) c.2036T>G (p.Val679Gly) c.2156T>G (p.Val719Gly) c.2410T>G c.1652T>G (p.Val551Gly) c.2033T>G (p.Val678Gly) c.1622T>G (p.Val541Gly) c.1775T>G (p.Val592Gly) n.2166T>G n.2490T>G n.2133T>G | |
19 | g.11123189T= | CA2322777171 | LDLR | c.2414T= (p.Val805=) c.*225T= (n.*225T=) c.2036T= (p.Val679=) c.2156T= (p.Val719=) c.2410T= c.1652T= (p.Val551=) c.2033T= (p.Val678=) c.1622T= (p.Val541=) c.1775T= (p.Val592=) n.2166T= n.2490T= n.2133T= | |
19 | g.11123190G>A | CA505486855 | LDLR | c.2415G>A (p.Val805=) c.*226G>A (n.*226G>A) c.2037G>A (p.Val679=) c.2157G>A (p.Val719=) c.2411G>A c.1653G>A (p.Val551=) c.2034G>A (p.Val678=) c.1623G>A (p.Val541=) c.1776G>A (p.Val592=) n.2167G>A n.2491G>A n.2134G>A | |
19 | g.11123190G>C | CA505486856 | LDLR | c.2415G>C (p.Val805=) c.*226G>C (n.*226G>C) c.2037G>C (p.Val679=) c.2157G>C (p.Val719=) c.2411G>C c.1653G>C (p.Val551=) c.2034G>C (p.Val678=) c.1623G>C (p.Val541=) c.1776G>C (p.Val592=) n.2167G>C n.2491G>C n.2134G>C | |
19 | g.11123190G>T | CA505486857 | LDLR | c.2415G>T (p.Val805=) c.*226G>T (n.*226G>T) c.2037G>T (p.Val679=) c.2157G>T (p.Val719=) c.2411G>T c.1653G>T (p.Val551=) c.2034G>T (p.Val678=) c.1623G>T (p.Val541=) c.1776G>T (p.Val592=) n.2167G>T n.2491G>T n.2134G>T | |
19 | g.11123191G>A | CA404094795 | LDLR | c.2416G>A (p.Ala806Thr) c.*227G>A (n.*227G>A) c.2038G>A (p.Ala680Thr) c.2158G>A (p.Ala720Thr) c.2412G>A c.1654G>A (p.Ala552Thr) c.2035G>A (p.Ala679Thr) c.1624G>A (p.Ala542Thr) c.1777G>A (p.Ala593Thr) n.2168G>A n.2492G>A n.2135G>A | ClinVar gnomAD v4 |
19 | g.11123191G>C | CA404094796 | LDLR | c.2416G>C (p.Ala806Pro) c.*227G>C (n.*227G>C) c.2038G>C (p.Ala680Pro) c.2158G>C (p.Ala720Pro) c.2412G>C c.1654G>C (p.Ala552Pro) c.2035G>C (p.Ala679Pro) c.1624G>C (p.Ala542Pro) c.1777G>C (p.Ala593Pro) n.2168G>C n.2492G>C n.2135G>C | |
19 | g.11123191G>T | CA404094798 | LDLR | c.2416G>T (p.Ala806Ser) c.*227G>T (n.*227G>T) c.2038G>T (p.Ala680Ser) c.2158G>T (p.Ala720Ser) c.2412G>T c.1654G>T (p.Ala552Ser) c.2035G>T (p.Ala679Ser) c.1624G>T (p.Ala542Ser) c.1777G>T (p.Ala593Ser) n.2168G>T n.2492G>T n.2135G>T | gnomAD v4 |
19 | g.11123192C>A | CA404094800 | LDLR | c.2417C>A (p.Ala806Asp) c.*228C>A (n.*228C>A) c.2039C>A (p.Ala680Asp) c.2159C>A (p.Ala720Asp) c.2413C>A c.1655C>A (p.Ala552Asp) c.2036C>A (p.Ala679Asp) c.1625C>A (p.Ala542Asp) c.1778C>A (p.Ala593Asp) n.2169C>A n.2493C>A n.2136C>A | |
19 | g.11123192C>G | CA404094802 | LDLR | c.2417C>G (p.Ala806Gly) c.*228C>G (n.*228C>G) c.2039C>G (p.Ala680Gly) c.2159C>G (p.Ala720Gly) c.2413C>G c.1655C>G (p.Ala552Gly) c.2036C>G (p.Ala679Gly) c.1625C>G (p.Ala542Gly) c.1778C>G (p.Ala593Gly) n.2169C>G n.2493C>G n.2136C>G | |
19 | g.11123192C>T | CA404094804 | LDLR | c.2417C>T (p.Ala806Val) c.*228C>T (n.*228C>T) c.2039C>T (p.Ala680Val) c.2159C>T (p.Ala720Val) c.2413C>T c.1655C>T (p.Ala552Val) c.2036C>T (p.Ala679Val) c.1625C>T (p.Ala542Val) c.1778C>T (p.Ala593Val) n.2169C>T n.2493C>T n.2136C>T | |
19 | g.11123193del | CA2739291176 | LDLR | c.2418del (p.Thr807ProfsTer9) c.*229del (n.*229del) c.2040del (p.Thr681ProfsTer9) c.2160del (p.Thr721ProfsTer9) c.2414del c.1656del (p.Thr553ProfsTer9) c.2037del (p.Thr680ProfsTer9) c.1626del (p.Thr543ProfsTer9) c.1779del (p.Thr594ProfsTer9) n.2170del n.2494del n.2137del | |
19 | g.11123193C>A | CA505486859 | LDLR | c.2418C>A (p.Ala806=) c.*229C>A (n.*229C>A) c.2040C>A (p.Ala680=) c.2160C>A (p.Ala720=) c.2414C>A c.1656C>A (p.Ala552=) c.2037C>A (p.Ala679=) c.1626C>A (p.Ala542=) c.1779C>A (p.Ala593=) n.2170C>A n.2494C>A n.2137C>A | |
19 | g.11123193C>G | CA505486860 | LDLR | c.2418C>G (p.Ala806=) c.*229C>G (n.*229C>G) c.2040C>G (p.Ala680=) c.2160C>G (p.Ala720=) c.2414C>G c.1656C>G (p.Ala552=) c.2037C>G (p.Ala679=) c.1626C>G (p.Ala542=) c.1779C>G (p.Ala593=) n.2170C>G n.2494C>G n.2137C>G | |
19 | g.11123193C>T | CA505486861 | LDLR | c.2418C>T (p.Ala806=) c.*229C>T (n.*229C>T) c.2040C>T (p.Ala680=) c.2160C>T (p.Ala720=) c.2414C>T c.1656C>T (p.Ala552=) c.2037C>T (p.Ala679=) c.1626C>T (p.Ala542=) c.1779C>T (p.Ala593=) n.2170C>T n.2494C>T n.2137C>T | |
19 | g.11123194A= | CA2322777172 | LDLR | c.2419A= (p.Thr807=) c.*230A= (n.*230A=) c.2041A= (p.Thr681=) c.2161A= (p.Thr721=) c.2415A= c.1657A= (p.Thr553=) c.2038A= (p.Thr680=) c.1627A= (p.Thr543=) c.1780A= (p.Thr594=) n.2171A= n.2495A= n.2138A= | |
19 | g.11123194A>C | CA404094810 | LDLR | c.2419A>C (p.Thr807Pro) c.*230A>C (n.*230A>C) c.2041A>C (p.Thr681Pro) c.2161A>C (p.Thr721Pro) c.2415A>C c.1657A>C (p.Thr553Pro) c.2038A>C (p.Thr680Pro) c.1627A>C (p.Thr543Pro) c.1780A>C (p.Thr594Pro) n.2171A>C n.2495A>C n.2138A>C | |
19 | g.11123194A>G | CA404094808 | LDLR | c.2419A>G (p.Thr807Ala) c.*230A>G (n.*230A>G) c.2041A>G (p.Thr681Ala) c.2161A>G (p.Thr721Ala) c.2415A>G c.1657A>G (p.Thr553Ala) c.2038A>G (p.Thr680Ala) c.1627A>G (p.Thr543Ala) c.1780A>G (p.Thr594Ala) n.2171A>G n.2495A>G n.2138A>G | ClinVar dbSNP |
19 | g.11123194A>T | CA404094806 | LDLR | c.2419A>T (p.Thr807Ser) c.*230A>T (n.*230A>T) c.2041A>T (p.Thr681Ser) c.2161A>T (p.Thr721Ser) c.2415A>T c.1657A>T (p.Thr553Ser) c.2038A>T (p.Thr680Ser) c.1627A>T (p.Thr543Ser) c.1780A>T (p.Thr594Ser) n.2171A>T n.2495A>T n.2138A>T | |
19 | g.11123195C>A | CA404094811 | LDLR | c.2420C>A (p.Thr807Asn) c.*231C>A (n.*231C>A) c.2042C>A (p.Thr681Asn) c.2162C>A (p.Thr721Asn) c.2416C>A c.1658C>A (p.Thr553Asn) c.2039C>A (p.Thr680Asn) c.1628C>A (p.Thr543Asn) c.1781C>A (p.Thr594Asn) n.2172C>A n.2496C>A n.2139C>A | |
19 | g.11123195C>G | CA404094813 | LDLR | c.2420C>G (p.Thr807Ser) c.*231C>G (n.*231C>G) c.2042C>G (p.Thr681Ser) c.2162C>G (p.Thr721Ser) c.2416C>G c.1658C>G (p.Thr553Ser) c.2039C>G (p.Thr680Ser) c.1628C>G (p.Thr543Ser) c.1781C>G (p.Thr594Ser) n.2172C>G n.2496C>G n.2139C>G | |
19 | g.11123195C>T | CA404094815 | LDLR | c.2420C>T (p.Thr807Ile) c.*231C>T (n.*231C>T) c.2042C>T (p.Thr681Ile) c.2162C>T (p.Thr721Ile) c.2416C>T c.1658C>T (p.Thr553Ile) c.2039C>T (p.Thr680Ile) c.1628C>T (p.Thr543Ile) c.1781C>T (p.Thr594Ile) n.2172C>T n.2496C>T n.2139C>T | gnomAD v4 |
19 | g.11123197del | CA2695228316 | LDLR | c.2422del (p.Gln808ArgfsTer8) c.*233del (n.*233del) c.2044del (p.Gln682ArgfsTer8) c.2164del (p.Gln722ArgfsTer8) c.2418del c.1660del (p.Gln554ArgfsTer8) c.2041del (p.Gln681ArgfsTer8) c.1630del (p.Gln544ArgfsTer8) c.1783del (p.Gln595ArgfsTer8) n.2174del n.2498del n.2141del | |
19 | g.11123196C>A | CA505486865 | LDLR | c.2421C>A (p.Thr807=) c.*232C>A (n.*232C>A) c.2043C>A (p.Thr681=) c.2163C>A (p.Thr721=) c.2417C>A c.1659C>A (p.Thr553=) c.2040C>A (p.Thr680=) c.1629C>A (p.Thr543=) c.1782C>A (p.Thr594=) n.2173C>A n.2497C>A n.2140C>A | |
19 | g.11123196C>G | CA505486866 | LDLR | c.2421C>G (p.Thr807=) c.*232C>G (n.*232C>G) c.2043C>G (p.Thr681=) c.2163C>G (p.Thr721=) c.2417C>G c.1659C>G (p.Thr553=) c.2040C>G (p.Thr680=) c.1629C>G (p.Thr543=) c.1782C>G (p.Thr594=) n.2173C>G n.2497C>G n.2140C>G | |
19 | g.11123196C>T | CA505486868 | LDLR | c.2421C>T (p.Thr807=) c.*232C>T (n.*232C>T) c.2043C>T (p.Thr681=) c.2163C>T (p.Thr721=) c.2417C>T c.1659C>T (p.Thr553=) c.2040C>T (p.Thr680=) c.1629C>T (p.Thr543=) c.1782C>T (p.Thr594=) n.2173C>T n.2497C>T n.2140C>T | |
19 | g.11123197C>A | CA404094817 | LDLR | c.2422C>A (p.Gln808Lys) c.*233C>A (n.*233C>A) c.2044C>A (p.Gln682Lys) c.2164C>A (p.Gln722Lys) c.2418C>A c.1660C>A (p.Gln554Lys) c.2041C>A (p.Gln681Lys) c.1630C>A (p.Gln544Lys) c.1783C>A (p.Gln595Lys) n.2174C>A n.2498C>A n.2141C>A | |
19 | g.11123197C= | CA2322777173 | LDLR | c.2422C= (p.Gln808=) c.*233C= (n.*233C=) c.2044C= (p.Gln682=) c.2164C= (p.Gln722=) c.2418C= c.1660C= (p.Gln554=) c.2041C= (p.Gln681=) c.1630C= (p.Gln544=) c.1783C= (p.Gln595=) n.2174C= n.2498C= n.2141C= | |
19 | g.11123197C>G | CA404094819 | LDLR | c.2422C>G (p.Gln808Glu) c.*233C>G (n.*233C>G) c.2044C>G (p.Gln682Glu) c.2164C>G (p.Gln722Glu) c.2418C>G c.1660C>G (p.Gln554Glu) c.2041C>G (p.Gln681Glu) c.1630C>G (p.Gln544Glu) c.1783C>G (p.Gln595Glu) n.2174C>G n.2498C>G n.2141C>G | |
19 | g.11123197C>T | CA10585795 | LDLR | c.2422C>T (p.Gln808Ter) c.*233C>T (n.*233C>T) c.2044C>T (p.Gln682Ter) c.2164C>T (p.Gln722Ter) c.2418C>T c.1660C>T (p.Gln554Ter) c.2041C>T (p.Gln681Ter) c.1630C>T (p.Gln544Ter) c.1783C>T (p.Gln595Ter) n.2174C>T n.2498C>T n.2141C>T | ClinVar dbSNP |
19 | g.11123198A= | CA2322777175 | LDLR | c.2423A= (p.Gln808=) c.*234A= (n.*234A=) c.2045A= (p.Gln682=) c.2165A= (p.Gln722=) c.2419A= c.1661A= (p.Gln554=) c.2042A= (p.Gln681=) c.1631A= (p.Gln544=) c.1784A= (p.Gln595=) n.2175A= n.2499A= n.2142A= | |
19 | g.11123198A>C | CA404094822 | LDLR | c.2423A>C (p.Gln808Pro) c.*234A>C (n.*234A>C) c.2045A>C (p.Gln682Pro) c.2165A>C (p.Gln722Pro) c.2419A>C c.1661A>C (p.Gln554Pro) c.2042A>C (p.Gln681Pro) c.1631A>C (p.Gln544Pro) c.1784A>C (p.Gln595Pro) n.2175A>C n.2499A>C n.2142A>C | dbSNP |
19 | g.11123198A>G | CA404094825 | LDLR | c.2423A>G (p.Gln808Arg) c.*234A>G (n.*234A>G) c.2045A>G (p.Gln682Arg) c.2165A>G (p.Gln722Arg) c.2419A>G c.1661A>G (p.Gln554Arg) c.2042A>G (p.Gln681Arg) c.1631A>G (p.Gln544Arg) c.1784A>G (p.Gln595Arg) n.2175A>G n.2499A>G n.2142A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123198A>T | CA404094823 | LDLR | c.2423A>T (p.Gln808Leu) c.*234A>T (n.*234A>T) c.2045A>T (p.Gln682Leu) c.2165A>T (p.Gln722Leu) c.2419A>T c.1661A>T (p.Gln554Leu) c.2042A>T (p.Gln681Leu) c.1631A>T (p.Gln544Leu) c.1784A>T (p.Gln595Leu) n.2175A>T n.2499A>T n.2142A>T | |
19 | g.11123198_11123199delinsAG | CA2322777174 | LDLR | c.2423_2424delinsAG (p.Gln808=) c.*234_*235delinsAG (n.*234_*235delinsAG) c.2045_2046delinsAG (p.Gln682=) c.2165_2166delinsAG (p.Gln722=) c.2419_2420delinsAG c.1661_1662delinsAG (p.Gln554=) c.2042_2043delinsAG (p.Gln681=) c.1631_1632delinsAG (p.Gln544=) c.1784_1785delinsAG (p.Gln595=) n.2175_2176delinsAG n.2499_2500delinsAG n.2142_2143delinsAG | |
19 | g.11123199G>A | CA505486872 | LDLR | c.2424G>A (p.Gln808=) c.*235G>A (n.*235G>A) c.2046G>A (p.Gln682=) c.2166G>A (p.Gln722=) c.2420G>A c.1662G>A (p.Gln554=) c.2043G>A (p.Gln681=) c.1632G>A (p.Gln544=) c.1785G>A (p.Gln595=) n.2176G>A n.2500G>A n.2143G>A | |
19 | g.11123199G>C | CA404094828 | LDLR | c.2424G>C (p.Gln808His) c.*235G>C (n.*235G>C) c.2046G>C (p.Gln682His) c.2166G>C (p.Gln722His) c.2420G>C c.1662G>C (p.Gln554His) c.2043G>C (p.Gln681His) c.1632G>C (p.Gln544His) c.1785G>C (p.Gln595His) n.2176G>C n.2500G>C n.2143G>C | |
19 | g.11123199G>T | CA404094829 | LDLR | c.2424G>T (p.Gln808His) c.*235G>T (n.*235G>T) c.2046G>T (p.Gln682His) c.2166G>T (p.Gln722His) c.2420G>T c.1662G>T (p.Gln554His) c.2043G>T (p.Gln681His) c.1632G>T (p.Gln544His) c.1785G>T (p.Gln595His) n.2176G>T n.2500G>T n.2143G>T | |
19 | g.11123200del | CA10585796 | LDLR | c.2425del (p.Glu809ArgfsTer7) c.*236del (n.*236del) c.2047del (p.Glu683ArgfsTer7) c.2167del (p.Glu723ArgfsTer7) c.2421del c.1663del (p.Glu555ArgfsTer7) c.2044del (p.Glu682ArgfsTer7) c.1633del (p.Glu545ArgfsTer7) c.1786del (p.Glu596ArgfsTer7) n.2177del n.2501del n.2144del | ClinVar dbSNP |
19 | g.11123200G>A | CA404094832 | LDLR | c.2425G>A (p.Glu809Lys) c.*236G>A (n.*236G>A) c.2047G>A (p.Glu683Lys) c.2167G>A (p.Glu723Lys) c.2421G>A c.1663G>A (p.Glu555Lys) c.2044G>A (p.Glu682Lys) c.1633G>A (p.Glu545Lys) c.1786G>A (p.Glu596Lys) n.2177G>A n.2501G>A n.2144G>A | gnomAD v4 COSMIC |
19 | g.11123200G>C | CA404094833 | LDLR | c.2425G>C (p.Glu809Gln) c.*236G>C (n.*236G>C) c.2047G>C (p.Glu683Gln) c.2167G>C (p.Glu723Gln) c.2421G>C c.1663G>C (p.Glu555Gln) c.2044G>C (p.Glu682Gln) c.1633G>C (p.Glu545Gln) c.1786G>C (p.Glu596Gln) n.2177G>C n.2501G>C n.2144G>C | |
19 | g.11123200G= | CA2322777176 | LDLR | c.2425G= (p.Glu809=) c.*236G= (n.*236G=) c.2047G= (p.Glu683=) c.2167G= (p.Glu723=) c.2421G= c.1663G= (p.Glu555=) c.2044G= (p.Glu682=) c.1633G= (p.Glu545=) c.1786G= (p.Glu596=) n.2177G= n.2501G= n.2144G= | |
19 | g.11123200G>T | CA10654855 | LDLR | c.2425G>T (p.Glu809Ter) c.*236G>T (n.*236G>T) c.2047G>T (p.Glu683Ter) c.2167G>T (p.Glu723Ter) c.2421G>T c.1663G>T (p.Glu555Ter) c.2044G>T (p.Glu682Ter) c.1633G>T (p.Glu545Ter) c.1786G>T (p.Glu596Ter) n.2177G>T n.2501G>T n.2144G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123201A= | CA2322777177 | LDLR | c.2426A= (p.Glu809=) c.*237A= (n.*237A=) c.2048A= (p.Glu683=) c.2168A= (p.Glu723=) c.2422A= c.1664A= (p.Glu555=) c.2045A= (p.Glu682=) c.1634A= (p.Glu545=) c.1787A= (p.Glu596=) n.2178A= n.2502A= n.2145A= | |
19 | g.11123201A>C | CA404094836 | LDLR | c.2426A>C (p.Glu809Ala) c.*237A>C (n.*237A>C) c.2048A>C (p.Glu683Ala) c.2168A>C (p.Glu723Ala) c.2422A>C c.1664A>C (p.Glu555Ala) c.2045A>C (p.Glu682Ala) c.1634A>C (p.Glu545Ala) c.1787A>C (p.Glu596Ala) n.2178A>C n.2502A>C n.2145A>C | |
19 | g.11123201A>G | CA404094838 | LDLR | c.2426A>G (p.Glu809Gly) c.*237A>G (n.*237A>G) c.2048A>G (p.Glu683Gly) c.2168A>G (p.Glu723Gly) c.2422A>G c.1664A>G (p.Glu555Gly) c.2045A>G (p.Glu682Gly) c.1634A>G (p.Glu545Gly) c.1787A>G (p.Glu596Gly) n.2178A>G n.2502A>G n.2145A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123201A>T | CA404094839 | LDLR | c.2426A>T (p.Glu809Val) c.*237A>T (n.*237A>T) c.2048A>T (p.Glu683Val) c.2168A>T (p.Glu723Val) c.2422A>T c.1664A>T (p.Glu555Val) c.2045A>T (p.Glu682Val) c.1634A>T (p.Glu545Val) c.1787A>T (p.Glu596Val) n.2178A>T n.2502A>T n.2145A>T | |
19 | g.11123202G>A | CA505486875 | LDLR | c.2427G>A (p.Glu809=) c.*238G>A (n.*238G>A) c.2049G>A (p.Glu683=) c.2169G>A (p.Glu723=) c.2423G>A c.1665G>A (p.Glu555=) c.2046G>A (p.Glu682=) c.1635G>A (p.Glu545=) c.1788G>A (p.Glu596=) n.2179G>A n.2503G>A n.2146G>A | |
19 | g.11123202G>C | CA404094841 | LDLR | c.2427G>C (p.Glu809Asp) c.*238G>C (n.*238G>C) c.2049G>C (p.Glu683Asp) c.2169G>C (p.Glu723Asp) c.2423G>C c.1665G>C (p.Glu555Asp) c.2046G>C (p.Glu682Asp) c.1635G>C (p.Glu545Asp) c.1788G>C (p.Glu596Asp) n.2179G>C n.2503G>C n.2146G>C | |
19 | g.11123202G>T | CA404094842 | LDLR | c.2427G>T (p.Glu809Asp) c.*238G>T (n.*238G>T) c.2049G>T (p.Glu683Asp) c.2169G>T (p.Glu723Asp) c.2423G>T c.1665G>T (p.Glu555Asp) c.2046G>T (p.Glu682Asp) c.1635G>T (p.Glu545Asp) c.1788G>T (p.Glu596Asp) n.2179G>T n.2503G>T n.2146G>T | |
19 | g.11123203A>C | CA404094844 | LDLR | c.2428A>C (p.Thr810Pro) c.*239A>C (n.*239A>C) c.2050A>C (p.Thr684Pro) c.2170A>C (p.Thr724Pro) c.2424A>C c.1666A>C (p.Thr556Pro) c.2047A>C (p.Thr683Pro) c.1636A>C (p.Thr546Pro) c.1789A>C (p.Thr597Pro) n.2180A>C n.2504A>C n.2147A>C | |
19 | g.11123203A>G | CA404094848 | LDLR | c.2428A>G (p.Thr810Ala) c.*239A>G (n.*239A>G) c.2050A>G (p.Thr684Ala) c.2170A>G (p.Thr724Ala) c.2424A>G c.1666A>G (p.Thr556Ala) c.2047A>G (p.Thr683Ala) c.1636A>G (p.Thr546Ala) c.1789A>G (p.Thr597Ala) n.2180A>G n.2504A>G n.2147A>G | |
19 | g.11123203A>T | CA404094846 | LDLR | c.2428A>T (p.Thr810Ser) c.*239A>T (n.*239A>T) c.2050A>T (p.Thr684Ser) c.2170A>T (p.Thr724Ser) c.2424A>T c.1666A>T (p.Thr556Ser) c.2047A>T (p.Thr683Ser) c.1636A>T (p.Thr546Ser) c.1789A>T (p.Thr597Ser) n.2180A>T n.2504A>T n.2147A>T | |
19 | g.11123204C>A | CA404094849 | LDLR | c.2429C>A (p.Thr810Lys) c.*240C>A (n.*240C>A) c.2051C>A (p.Thr684Lys) c.2171C>A (p.Thr724Lys) c.2425C>A c.1667C>A (p.Thr556Lys) c.2048C>A (p.Thr683Lys) c.1637C>A (p.Thr546Lys) c.1790C>A (p.Thr597Lys) n.2181C>A n.2505C>A n.2148C>A | |
19 | g.11123204C= | CA2322777178 | LDLR | c.2429C= (p.Thr810=) c.*240C= (n.*240C=) c.2051C= (p.Thr684=) c.2171C= (p.Thr724=) c.2425C= c.1667C= (p.Thr556=) c.2048C= (p.Thr683=) c.1637C= (p.Thr546=) c.1790C= (p.Thr597=) n.2181C= n.2505C= n.2148C= | |
19 | g.11123204C>G | CA404094850 | LDLR | c.2429C>G (p.Thr810Arg) c.*240C>G (n.*240C>G) c.2051C>G (p.Thr684Arg) c.2171C>G (p.Thr724Arg) c.2425C>G c.1667C>G (p.Thr556Arg) c.2048C>G (p.Thr683Arg) c.1637C>G (p.Thr546Arg) c.1790C>G (p.Thr597Arg) n.2181C>G n.2505C>G n.2148C>G | |
19 | g.11123204C>T | CA10585797 | LDLR | c.2429C>T (p.Thr810Ile) c.*240C>T (n.*240C>T) c.2051C>T (p.Thr684Ile) c.2171C>T (p.Thr724Ile) c.2425C>T c.1667C>T (p.Thr556Ile) c.2048C>T (p.Thr683Ile) c.1637C>T (p.Thr546Ile) c.1790C>T (p.Thr597Ile) n.2181C>T n.2505C>T n.2148C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123205A>C | CA505486882 | LDLR | c.2430A>C (p.Thr810=) c.*241A>C (n.*241A>C) c.2052A>C (p.Thr684=) c.2172A>C (p.Thr724=) c.2426A>C c.1668A>C (p.Thr556=) c.2049A>C (p.Thr683=) c.1638A>C (p.Thr546=) c.1791A>C (p.Thr597=) n.2182A>C n.2506A>C n.2149A>C | |
19 | g.11123205A>G | CA505486881 | LDLR | c.2430A>G (p.Thr810=) c.*241A>G (n.*241A>G) c.2052A>G (p.Thr684=) c.2172A>G (p.Thr724=) c.2426A>G c.1668A>G (p.Thr556=) c.2049A>G (p.Thr683=) c.1638A>G (p.Thr546=) c.1791A>G (p.Thr597=) n.2182A>G n.2506A>G n.2149A>G | |
19 | g.11123205A>T | CA505486880 | LDLR | c.2430A>T (p.Thr810=) c.*241A>T (n.*241A>T) c.2052A>T (p.Thr684=) c.2172A>T (p.Thr724=) c.2426A>T c.1668A>T (p.Thr556=) c.2049A>T (p.Thr683=) c.1638A>T (p.Thr546=) c.1791A>T (p.Thr597=) n.2182A>T n.2506A>T n.2149A>T | ClinVar dbSNP |
19 | g.11123206T>A | CA404094853 | LDLR | c.2431T>A (p.Ser811Thr) c.*242T>A (n.*242T>A) c.2053T>A (p.Ser685Thr) c.2173T>A (p.Ser725Thr) c.2427T>A c.1669T>A (p.Ser557Thr) c.2050T>A (p.Ser684Thr) c.1639T>A (p.Ser547Thr) c.1792T>A (p.Ser598Thr) n.2183T>A n.2507T>A n.2150T>A | |
19 | g.11123206T>C | CA404094854 | LDLR | c.2431T>C (p.Ser811Pro) c.*242T>C (n.*242T>C) c.2053T>C (p.Ser685Pro) c.2173T>C (p.Ser725Pro) c.2427T>C c.1669T>C (p.Ser557Pro) c.2050T>C (p.Ser684Pro) c.1639T>C (p.Ser547Pro) c.1792T>C (p.Ser598Pro) n.2183T>C n.2507T>C n.2150T>C | dbSNP |
19 | g.11123206T>G | CA404094856 | LDLR | c.2431T>G (p.Ser811Ala) c.*242T>G (n.*242T>G) c.2053T>G (p.Ser685Ala) c.2173T>G (p.Ser725Ala) c.2427T>G c.1669T>G (p.Ser557Ala) c.2050T>G (p.Ser684Ala) c.1639T>G (p.Ser547Ala) c.1792T>G (p.Ser598Ala) n.2183T>G n.2507T>G n.2150T>G | |
19 | g.11123206T= | CA2322777180 | LDLR | c.2431T= (p.Ser811=) c.*242T= (n.*242T=) c.2053T= (p.Ser685=) c.2173T= (p.Ser725=) c.2427T= c.1669T= (p.Ser557=) c.2050T= (p.Ser684=) c.1639T= (p.Ser547=) c.1792T= (p.Ser598=) n.2183T= n.2507T= n.2150T= | |
19 | g.11123206_11123207delinsTC | CA2322777179 | LDLR | c.2431_2432delinsTC (p.Ser811=) c.*242_*243delinsTC (n.*242_*243delinsTC) c.2053_2054delinsTC (p.Ser685=) c.2173_2174delinsTC (p.Ser725=) c.2427_2428delinsTC c.1669_1670delinsTC (p.Ser557=) c.2050_2051delinsTC (p.Ser684=) c.1639_1640delinsTC (p.Ser547=) c.1792_1793delinsTC (p.Ser598=) n.2183_2184delinsTC n.2507_2508delinsTC n.2150_2151delinsTC | |
19 | g.11123207C>A | CA404094859 | LDLR | c.2432C>A (p.Ser811Tyr) c.*243C>A (n.*243C>A) c.2054C>A (p.Ser685Tyr) c.2174C>A (p.Ser725Tyr) c.2428C>A c.1670C>A (p.Ser557Tyr) c.2051C>A (p.Ser684Tyr) c.1640C>A (p.Ser547Tyr) c.1793C>A (p.Ser598Tyr) n.2184C>A n.2508C>A n.2151C>A | |
19 | g.11123207C>G | CA404094861 | LDLR | c.2432C>G (p.Ser811Cys) c.*243C>G (n.*243C>G) c.2054C>G (p.Ser685Cys) c.2174C>G (p.Ser725Cys) c.2428C>G c.1670C>G (p.Ser557Cys) c.2051C>G (p.Ser684Cys) c.1640C>G (p.Ser547Cys) c.1793C>G (p.Ser598Cys) n.2184C>G n.2508C>G n.2151C>G | gnomAD v4 |
19 | g.11123207C>T | CA404094862 | LDLR | c.2432C>T (p.Ser811Phe) c.*243C>T (n.*243C>T) c.2054C>T (p.Ser685Phe) c.2174C>T (p.Ser725Phe) c.2428C>T c.1670C>T (p.Ser557Phe) c.2051C>T (p.Ser684Phe) c.1640C>T (p.Ser547Phe) c.1793C>T (p.Ser598Phe) n.2184C>T n.2508C>T n.2151C>T | |
19 | g.11123208del | CA10585798 | LDLR | c.2433del (p.Thr812ProfsTer4) c.*244del (n.*244del) c.2055del (p.Thr686ProfsTer4) c.2175del (p.Thr726ProfsTer4) c.2429del c.1671del (p.Thr558ProfsTer4) c.2052del (p.Thr685ProfsTer4) c.1641del (p.Thr548ProfsTer4) c.1794del (p.Thr599ProfsTer4) n.2185del n.2509del n.2152del | ClinVar dbSNP |
19 | g.11123208C>A | CA505486883 | LDLR | c.2433C>A (p.Ser811=) c.*244C>A (n.*244C>A) c.2055C>A (p.Ser685=) c.2175C>A (p.Ser725=) c.2429C>A c.1671C>A (p.Ser557=) c.2052C>A (p.Ser684=) c.1641C>A (p.Ser547=) c.1794C>A (p.Ser598=) n.2185C>A n.2509C>A n.2152C>A | |
19 | g.11123208C>G | CA505486884 | LDLR | c.2433C>G (p.Ser811=) c.*244C>G (n.*244C>G) c.2055C>G (p.Ser685=) c.2175C>G (p.Ser725=) c.2429C>G c.1671C>G (p.Ser557=) c.2052C>G (p.Ser684=) c.1641C>G (p.Ser547=) c.1794C>G (p.Ser598=) n.2185C>G n.2509C>G n.2152C>G | |
19 | g.11123208C>T | CA505486885 | LDLR | c.2433C>T (p.Ser811=) c.*244C>T (n.*244C>T) c.2055C>T (p.Ser685=) c.2175C>T (p.Ser725=) c.2429C>T c.1671C>T (p.Ser557=) c.2052C>T (p.Ser684=) c.1641C>T (p.Ser547=) c.1794C>T (p.Ser598=) n.2185C>T n.2509C>T n.2152C>T | gnomAD v4 |
19 | g.11123209A= | CA2322777181 | LDLR | c.2434A= (p.Thr812=) c.*245A= (n.*245A=) c.2056A= (p.Thr686=) c.2176A= (p.Thr726=) c.2430A= c.1672A= (p.Thr558=) c.2053A= (p.Thr685=) c.1642A= (p.Thr548=) c.1795A= (p.Thr599=) n.2186A= n.2510A= n.2153A= | |
19 | g.11123209A>C | CA404094865 | LDLR | c.2434A>C (p.Thr812Pro) c.*245A>C (n.*245A>C) c.2056A>C (p.Thr686Pro) c.2176A>C (p.Thr726Pro) c.2430A>C c.1672A>C (p.Thr558Pro) c.2053A>C (p.Thr685Pro) c.1642A>C (p.Thr548Pro) c.1795A>C (p.Thr599Pro) n.2186A>C n.2510A>C n.2153A>C | dbSNP |
19 | g.11123209A>G | CA404094866 | LDLR | c.2434A>G (p.Thr812Ala) c.*245A>G (n.*245A>G) c.2056A>G (p.Thr686Ala) c.2176A>G (p.Thr726Ala) c.2430A>G c.1672A>G (p.Thr558Ala) c.2053A>G (p.Thr685Ala) c.1642A>G (p.Thr548Ala) c.1795A>G (p.Thr599Ala) n.2186A>G n.2510A>G n.2153A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123209A>T | CA404094867 | LDLR | c.2434A>T (p.Thr812Ser) c.*245A>T (n.*245A>T) c.2056A>T (p.Thr686Ser) c.2176A>T (p.Thr726Ser) c.2430A>T c.1672A>T (p.Thr558Ser) c.2053A>T (p.Thr685Ser) c.1642A>T (p.Thr548Ser) c.1795A>T (p.Thr599Ser) n.2186A>T n.2510A>T n.2153A>T | |
19 | g.11123209_11123210delinsAC | CA2322777182 | LDLR | c.2434_2435delinsAC (p.Thr812=) c.*245_*246delinsAC (n.*245_*246delinsAC) c.2056_2057delinsAC (p.Thr686=) c.2176_2177delinsAC (p.Thr726=) c.2430_2431delinsAC c.1672_1673delinsAC (p.Thr558=) c.2053_2054delinsAC (p.Thr685=) c.1642_1643delinsAC (p.Thr548=) c.1795_1796delinsAC (p.Thr599=) n.2186_2187delinsAC n.2510_2511delinsAC n.2153_2154delinsAC | |
19 | g.11123210C>A | CA404094870 | LDLR | c.2435C>A (p.Thr812Asn) c.*246C>A (n.*246C>A) c.2057C>A (p.Thr686Asn) c.2177C>A (p.Thr726Asn) c.2431C>A c.1673C>A (p.Thr558Asn) c.2054C>A (p.Thr685Asn) c.1643C>A (p.Thr548Asn) c.1796C>A (p.Thr599Asn) n.2187C>A n.2511C>A n.2154C>A | |
19 | g.11123210C= | CA2322777183 | LDLR | c.2435C= (p.Thr812=) c.*246C= (n.*246C=) c.2057C= (p.Thr686=) c.2177C= (p.Thr726=) c.2431C= c.1673C= (p.Thr558=) c.2054C= (p.Thr685=) c.1643C= (p.Thr548=) c.1796C= (p.Thr599=) n.2187C= n.2511C= n.2154C= | |
19 | g.11123210C>G | CA404094873 | LDLR | c.2435C>G (p.Thr812Ser) c.*246C>G (n.*246C>G) c.2057C>G (p.Thr686Ser) c.2177C>G (p.Thr726Ser) c.2431C>G c.1673C>G (p.Thr558Ser) c.2054C>G (p.Thr685Ser) c.1643C>G (p.Thr548Ser) c.1796C>G (p.Thr599Ser) n.2187C>G n.2511C>G n.2154C>G | |
19 | g.11123210C>T | CA023649 | LDLR | c.2435C>T (p.Thr812Ile) c.*246C>T (n.*246C>T) c.2057C>T (p.Thr686Ile) c.2177C>T (p.Thr726Ile) c.2431C>T c.1673C>T (p.Thr558Ile) c.2054C>T (p.Thr685Ile) c.1643C>T (p.Thr548Ile) c.1796C>T (p.Thr599Ile) n.2187C>T n.2511C>T n.2154C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123211del | CA10585799 | LDLR | c.2436del (p.Val813SerfsTer3) c.*247del (n.*247del) c.2058del (p.Val687SerfsTer3) c.2178del (p.Val727SerfsTer3) c.2432del c.1674del (p.Val559SerfsTer3) c.2055del (p.Val686SerfsTer3) c.1644del (p.Val549SerfsTer3) c.1797del (p.Val600SerfsTer3) n.2188del n.2512del n.2155del | ClinVar dbSNP |
19 | g.11123211C>A | CA505486886 | LDLR | c.2436C>A (p.Thr812=) c.*247C>A (n.*247C>A) c.2058C>A (p.Thr686=) c.2178C>A (p.Thr726=) c.2432C>A c.1674C>A (p.Thr558=) c.2055C>A (p.Thr685=) c.1644C>A (p.Thr548=) c.1797C>A (p.Thr599=) n.2188C>A n.2512C>A n.2155C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11123211C= | CA2322777184 | LDLR | c.2436C= (p.Thr812=) c.*247C= (n.*247C=) c.2058C= (p.Thr686=) c.2178C= (p.Thr726=) c.2432C= c.1674C= (p.Thr558=) c.2055C= (p.Thr685=) c.1644C= (p.Thr548=) c.1797C= (p.Thr599=) n.2188C= n.2512C= n.2155C= | |
19 | g.11123211C>G | CA505486888 | LDLR | c.2436C>G (p.Thr812=) c.*247C>G (n.*247C>G) c.2058C>G (p.Thr686=) c.2178C>G (p.Thr726=) c.2432C>G c.1674C>G (p.Thr558=) c.2055C>G (p.Thr685=) c.1644C>G (p.Thr548=) c.1797C>G (p.Thr599=) n.2188C>G n.2512C>G n.2155C>G | |
19 | g.11123211C>T | CA305305073 | LDLR | c.2436C>T (p.Thr812=) c.*247C>T (n.*247C>T) c.2058C>T (p.Thr686=) c.2178C>T (p.Thr726=) c.2432C>T c.1674C>T (p.Thr558=) c.2055C>T (p.Thr685=) c.1644C>T (p.Thr548=) c.1797C>T (p.Thr599=) n.2188C>T n.2512C>T n.2155C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123212G>A | CA039072 | LDLR | c.2437G>A (p.Val813Ile) c.*248G>A (n.*248G>A) c.2059G>A (p.Val687Ile) c.2179G>A (p.Val727Ile) c.2433G>A c.1675G>A (p.Val559Ile) c.2056G>A (p.Val686Ile) c.1645G>A (p.Val549Ile) c.1798G>A (p.Val600Ile) n.2189G>A n.2513G>A n.2156G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11123212G>C | CA404094877 | LDLR | c.2437G>C (p.Val813Leu) c.*248G>C (n.*248G>C) c.2059G>C (p.Val687Leu) c.2179G>C (p.Val727Leu) c.2433G>C c.1675G>C (p.Val559Leu) c.2056G>C (p.Val686Leu) c.1645G>C (p.Val549Leu) c.1798G>C (p.Val600Leu) n.2189G>C n.2513G>C n.2156G>C | |
19 | g.11123212G= | CA2322777185 | LDLR | c.2437G= (p.Val813=) c.*248G= (n.*248G=) c.2059G= (p.Val687=) c.2179G= (p.Val727=) c.2433G= c.1675G= (p.Val559=) c.2056G= (p.Val686=) c.1645G= (p.Val549=) c.1798G= (p.Val600=) n.2189G= n.2513G= n.2156G= | |
19 | g.11123212G>T | CA404094879 | LDLR | c.2437G>T (p.Val813Phe) c.*248G>T (n.*248G>T) c.2059G>T (p.Val687Phe) c.2179G>T (p.Val727Phe) c.2433G>T c.1675G>T (p.Val559Phe) c.2056G>T (p.Val686Phe) c.1645G>T (p.Val549Phe) c.1798G>T (p.Val600Phe) n.2189G>T n.2513G>T n.2156G>T | |
19 | g.11123213_11123217dup | CA16609820 | LDLR | c.2438_2442dup (p.Leu815SerfsTer3) c.*249_*253dup (n.*249_*253dup) c.2060_2064dup (p.Leu689SerfsTer3) c.2180_2184dup (p.Leu729SerfsTer3) c.2434_2438dup c.1676_1680dup (p.Leu561SerfsTer3) c.2057_2061dup (p.Leu688SerfsTer3) c.1646_1650dup (p.Leu551SerfsTer3) c.1799_1803dup (p.Leu602SerfsTer3) n.2190_2194dup n.2514_2518dup n.2157_2161dup | ClinVar dbSNP |
19 | g.11123213T>A | CA404094881 | LDLR | c.2438T>A (p.Val813Asp) c.*249T>A (n.*249T>A) c.2060T>A (p.Val687Asp) c.2180T>A (p.Val727Asp) c.2434T>A c.1676T>A (p.Val559Asp) c.2057T>A (p.Val686Asp) c.1646T>A (p.Val549Asp) c.1799T>A (p.Val600Asp) n.2190T>A n.2514T>A n.2157T>A | ClinVar dbSNP gnomAD v4 |
19 | g.11123213T>C | CA404094882 | LDLR | c.2438T>C (p.Val813Ala) c.*249T>C (n.*249T>C) c.2060T>C (p.Val687Ala) c.2180T>C (p.Val727Ala) c.2434T>C c.1676T>C (p.Val559Ala) c.2057T>C (p.Val686Ala) c.1646T>C (p.Val549Ala) c.1799T>C (p.Val600Ala) n.2190T>C n.2514T>C n.2157T>C | |
19 | g.11123213T>G | CA404094884 | LDLR | c.2438T>G (p.Val813Gly) c.*249T>G (n.*249T>G) c.2060T>G (p.Val687Gly) c.2180T>G (p.Val727Gly) c.2434T>G c.1676T>G (p.Val559Gly) c.2057T>G (p.Val686Gly) c.1646T>G (p.Val549Gly) c.1799T>G (p.Val600Gly) n.2190T>G n.2514T>G n.2157T>G | |
19 | g.11123213T= | CA2322777186 | LDLR | c.2438T= (p.Val813=) c.*249T= (n.*249T=) c.2060T= (p.Val687=) c.2180T= (p.Val727=) c.2434T= c.1676T= (p.Val559=) c.2057T= (p.Val686=) c.1646T= (p.Val549=) c.1799T= (p.Val600=) n.2190T= n.2514T= n.2157T= | |
19 | g.11123214C>A | CA505486891 | LDLR | c.2439C>A (p.Val813=) c.*250C>A (n.*250C>A) c.2061C>A (p.Val687=) c.2181C>A (p.Val727=) c.2435C>A c.1677C>A (p.Val559=) c.2058C>A (p.Val686=) c.1647C>A (p.Val549=) c.1800C>A (p.Val600=) n.2191C>A n.2515C>A n.2158C>A | |
19 | g.11123214C>G | CA505486893 | LDLR | c.2439C>G (p.Val813=) c.*250C>G (n.*250C>G) c.2061C>G (p.Val687=) c.2181C>G (p.Val727=) c.2435C>G c.1677C>G (p.Val559=) c.2058C>G (p.Val686=) c.1647C>G (p.Val549=) c.1800C>G (p.Val600=) n.2191C>G n.2515C>G n.2158C>G | |
19 | g.11123214C>T | CA505486895 | LDLR | c.2439C>T (p.Val813=) c.*250C>T (n.*250C>T) c.2061C>T (p.Val687=) c.2181C>T (p.Val727=) c.2435C>T c.1677C>T (p.Val559=) c.2058C>T (p.Val686=) c.1647C>T (p.Val549=) c.1800C>T (p.Val600=) n.2191C>T n.2515C>T n.2158C>T | |
19 | g.11123215A>C | CA505486896 | LDLR | c.2440A>C (p.Arg814=) c.*251A>C (n.*251A>C) c.2062A>C (p.Arg688=) c.2182A>C (p.Arg728=) c.2436A>C c.1678A>C (p.Arg560=) c.2059A>C (p.Arg687=) c.1648A>C (p.Arg550=) c.1801A>C (p.Arg601=) n.2192A>C n.2516A>C n.2159A>C | |
19 | g.11123215A>G | CA404094886 | LDLR | c.2440A>G (p.Arg814Gly) c.*251A>G (n.*251A>G) c.2062A>G (p.Arg688Gly) c.2182A>G (p.Arg728Gly) c.2436A>G c.1678A>G (p.Arg560Gly) c.2059A>G (p.Arg687Gly) c.1648A>G (p.Arg550Gly) c.1801A>G (p.Arg601Gly) n.2192A>G n.2516A>G n.2159A>G | |
19 | g.11123215A>T | CA404094887 | LDLR | c.2440A>T (p.Arg814Trp) c.*251A>T (n.*251A>T) c.2062A>T (p.Arg688Trp) c.2182A>T (p.Arg728Trp) c.2436A>T c.1678A>T (p.Arg560Trp) c.2059A>T (p.Arg687Trp) c.1648A>T (p.Arg550Trp) c.1801A>T (p.Arg601Trp) n.2192A>T n.2516A>T n.2159A>T | |
19 | g.11123215_11123216delinsAG | CA2322777187 | LDLR | c.2440_2441delinsAG (p.Arg814=) c.*251_*252delinsAG (n.*251_*252delinsAG) c.2062_2063delinsAG (p.Arg688=) c.2182_2183delinsAG (p.Arg728=) c.2436_2437delinsAG c.1678_1679delinsAG (p.Arg560=) c.2059_2060delinsAG (p.Arg687=) c.1648_1649delinsAG (p.Arg550=) c.1801_1802delinsAG (p.Arg601=) n.2192_2193delinsAG n.2516_2517delinsAG n.2159_2160delinsAG | |
19 | g.11123216G>A | CA404094894 | LDLR | c.2441G>A (p.Arg814Lys) c.*252G>A (n.*252G>A) c.2063G>A (p.Arg688Lys) c.2183G>A (p.Arg728Lys) c.2437G>A c.1679G>A (p.Arg560Lys) c.2060G>A (p.Arg687Lys) c.1649G>A (p.Arg550Lys) c.1802G>A (p.Arg601Lys) n.2193G>A n.2517G>A n.2160G>A | gnomAD v4 |
19 | g.11123216G>C | CA404094892 | LDLR | c.2441G>C (p.Arg814Thr) c.*252G>C (n.*252G>C) c.2063G>C (p.Arg688Thr) c.2183G>C (p.Arg728Thr) c.2437G>C c.1679G>C (p.Arg560Thr) c.2060G>C (p.Arg687Thr) c.1649G>C (p.Arg550Thr) c.1802G>C (p.Arg601Thr) n.2193G>C n.2517G>C n.2160G>C | |
19 | g.11123216G>T | CA404094891 | LDLR | c.2441G>T (p.Arg814Met) c.*252G>T (n.*252G>T) c.2063G>T (p.Arg688Met) c.2183G>T (p.Arg728Met) c.2437G>T c.1679G>T (p.Arg560Met) c.2060G>T (p.Arg687Met) c.1649G>T (p.Arg550Met) c.1802G>T (p.Arg601Met) n.2193G>T n.2517G>T n.2160G>T | |
19 | g.11123217del | CA10585800 | LDLR | c.2442del (p.Arg814SerfsTer2) c.*253del (n.*253del) c.2064del (p.Arg688SerfsTer2) c.2184del (p.Arg728SerfsTer2) c.2438del c.1680del (p.Arg560SerfsTer2) c.2061del (p.Arg687SerfsTer2) c.1650del (p.Arg550SerfsTer2) c.1803del (p.Arg601SerfsTer2) n.2194del n.2518del n.2161del | ClinVar dbSNP |
19 | g.11123216_11123227delinsGGCTAAAGGTCA | CA2322777188 | LDLR | c.2441_2452delinsGGCTAAAGGTCA (p.Arg814=) c.*252_*263delinsGGCTAAAGGTCA (n.*252_*263delinsGGCTAAAGGTCA) c.2063_2074delinsGGCTAAAGGTCA (p.Arg688=) c.2183_2194delinsGGCTAAAGGTCA (p.Arg728=) c.2437_2448delinsGGCTAAAGGTCA c.1679_1690delinsGGCTAAAGGTCA (p.Arg560=) c.2060_2071delinsGGCTAAAGGTCA (p.Arg687=) c.1649_1660delinsGGCTAAAGGTCA (p.Arg550=) c.1802_1813delinsGGCTAAAGGTCA (p.Arg601=) n.2193_2204delinsGGCTAAAGGTCA n.2517_2528delinsGGCTAAAGGTCA n.2160_2171delinsGGCTAAAGGTCA | |
19 | g.11123217G>A | CA505486897 | LDLR | c.2442G>A (p.Arg814=) c.*253G>A (n.*253G>A) c.2064G>A (p.Arg688=) c.2184G>A (p.Arg728=) c.2438G>A c.1680G>A (p.Arg560=) c.2061G>A (p.Arg687=) c.1650G>A (p.Arg550=) c.1803G>A (p.Arg601=) n.2194G>A n.2518G>A n.2161G>A | |
19 | g.11123217G>C | CA404094897 | LDLR | c.2442G>C (p.Arg814Ser) c.*253G>C (n.*253G>C) c.2064G>C (p.Arg688Ser) c.2184G>C (p.Arg728Ser) c.2438G>C c.1680G>C (p.Arg560Ser) c.2061G>C (p.Arg687Ser) c.1650G>C (p.Arg550Ser) c.1803G>C (p.Arg601Ser) n.2194G>C n.2518G>C n.2161G>C | ClinVar dbSNP |
19 | g.11123217G= | CA2322777189 | LDLR | c.2442G= (p.Arg814=) c.*253G= (n.*253G=) c.2064G= (p.Arg688=) c.2184G= (p.Arg728=) c.2438G= c.1680G= (p.Arg560=) c.2061G= (p.Arg687=) c.1650G= (p.Arg550=) c.1803G= (p.Arg601=) n.2194G= n.2518G= n.2161G= | |
19 | g.11123217G>T | CA404094898 | LDLR | c.2442G>T (p.Arg814Ser) c.*253G>T (n.*253G>T) c.2064G>T (p.Arg688Ser) c.2184G>T (p.Arg728Ser) c.2438G>T c.1680G>T (p.Arg560Ser) c.2061G>T (p.Arg687Ser) c.1650G>T (p.Arg550Ser) c.1803G>T (p.Arg601Ser) n.2194G>T n.2518G>T n.2161G>T | |
19 | g.11123220_11123230del | CA10585802 | LDLR | c.2445_2455del (p.Lys816HisfsTer?) c.*256_*266del (n.*256_*266del) c.2067_2077del (p.Lys690HisfsTer?) c.2187_2197del (p.Lys730HisfsTer?) c.2441_2451del c.1683_1693del (p.Lys562HisfsTer?) c.2064_2074del (p.Lys689HisfsTer?) c.1653_1663del (p.Lys552HisfsTer?) c.1806_1816del (p.Lys603HisfsTer?) n.2197_2207del n.2521_2531del n.2164_2174del | ClinVar dbSNP gnomAD v4 |
19 | g.11123218C>A | CA404094902 | LDLR | c.2443C>A (p.Leu815Ile) c.*254C>A (n.*254C>A) c.2065C>A (p.Leu689Ile) c.2185C>A (p.Leu729Ile) c.2439C>A c.1681C>A (p.Leu561Ile) c.2062C>A (p.Leu688Ile) c.1651C>A (p.Leu551Ile) c.1804C>A (p.Leu602Ile) n.2195C>A n.2519C>A n.2162C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123218C= | CA2322777190 | LDLR | c.2443C= (p.Leu815=) c.*254C= (n.*254C=) c.2065C= (p.Leu689=) c.2185C= (p.Leu729=) c.2439C= c.1681C= (p.Leu561=) c.2062C= (p.Leu688=) c.1651C= (p.Leu551=) c.1804C= (p.Leu602=) n.2195C= n.2519C= n.2162C= | |
19 | g.11123218C>G | CA404094899 | LDLR | c.2443C>G (p.Leu815Val) c.*254C>G (n.*254C>G) c.2065C>G (p.Leu689Val) c.2185C>G (p.Leu729Val) c.2439C>G c.1681C>G (p.Leu561Val) c.2062C>G (p.Leu688Val) c.1651C>G (p.Leu551Val) c.1804C>G (p.Leu602Val) n.2195C>G n.2519C>G n.2162C>G | gnomAD v4 |
19 | g.11123218C>T | CA505486899 | LDLR | c.2443C>T (p.Leu815=) c.*254C>T (n.*254C>T) c.2065C>T (p.Leu689=) c.2185C>T (p.Leu729=) c.2439C>T c.1681C>T (p.Leu561=) c.2062C>T (p.Leu688=) c.1651C>T (p.Leu551=) c.1804C>T (p.Leu602=) n.2195C>T n.2519C>T n.2162C>T | |
19 | g.11123219T>A | CA404094904 | LDLR | c.2444T>A (p.Leu815Gln) c.*255T>A (n.*255T>A) c.2066T>A (p.Leu689Gln) c.2186T>A (p.Leu729Gln) c.2440T>A c.1682T>A (p.Leu561Gln) c.2063T>A (p.Leu688Gln) c.1652T>A (p.Leu551Gln) c.1805T>A (p.Leu602Gln) n.2196T>A n.2520T>A n.2163T>A | |
19 | g.11123219T>C | CA404094905 | LDLR | c.2444T>C (p.Leu815Pro) c.*255T>C (n.*255T>C) c.2066T>C (p.Leu689Pro) c.2186T>C (p.Leu729Pro) c.2440T>C c.1682T>C (p.Leu561Pro) c.2063T>C (p.Leu688Pro) c.1652T>C (p.Leu551Pro) c.1805T>C (p.Leu602Pro) n.2196T>C n.2520T>C n.2163T>C | |
19 | g.11123219T>G | CA404094907 | LDLR | c.2444T>G (p.Leu815Arg) c.*255T>G (n.*255T>G) c.2066T>G (p.Leu689Arg) c.2186T>G (p.Leu729Arg) c.2440T>G c.1682T>G (p.Leu561Arg) c.2063T>G (p.Leu688Arg) c.1652T>G (p.Leu551Arg) c.1805T>G (p.Leu602Arg) n.2196T>G n.2520T>G n.2163T>G | |
19 | g.11123219dup | CA10585801 | LDLR | c.2444dup (p.Val817GlyfsTer?) c.*255dup (n.*255dup) c.2066dup (p.Val691GlyfsTer?) c.2186dup (p.Val731GlyfsTer?) c.2440dup c.1682dup (p.Val563GlyfsTer?) c.2063dup (p.Val690GlyfsTer?) c.1652dup (p.Val553GlyfsTer?) c.1805dup (p.Val604GlyfsTer?) n.2196dup n.2520dup n.2163dup | ClinVar dbSNP |
19 | g.11123220A>C | CA505486901 | LDLR | c.2445A>C (p.Leu815=) c.*256A>C (n.*256A>C) c.2067A>C (p.Leu689=) c.2187A>C (p.Leu729=) c.2441A>C c.1683A>C (p.Leu561=) c.2064A>C (p.Leu688=) c.1653A>C (p.Leu551=) c.1806A>C (p.Leu602=) n.2197A>C n.2521A>C n.2164A>C | |
19 | g.11123220A>G | CA505486902 | LDLR | c.2445A>G (p.Leu815=) c.*256A>G (n.*256A>G) c.2067A>G (p.Leu689=) c.2187A>G (p.Leu729=) c.2441A>G c.1683A>G (p.Leu561=) c.2064A>G (p.Leu688=) c.1653A>G (p.Leu551=) c.1806A>G (p.Leu602=) n.2197A>G n.2521A>G n.2164A>G | ClinVar gnomAD v4 |
19 | g.11123220A>T | CA505486903 | LDLR | c.2445A>T (p.Leu815=) c.*256A>T (n.*256A>T) c.2067A>T (p.Leu689=) c.2187A>T (p.Leu729=) c.2441A>T c.1683A>T (p.Leu561=) c.2064A>T (p.Leu688=) c.1653A>T (p.Leu551=) c.1806A>T (p.Leu602=) n.2197A>T n.2521A>T n.2164A>T | |
19 | g.11123221A= | CA2322777191 | LDLR | c.2446A= (p.Lys816=) c.*257A= (n.*257A=) c.2068A= (p.Lys690=) c.2188A= (p.Lys730=) c.2442A= c.1684A= (p.Lys562=) c.2065A= (p.Lys689=) c.1654A= (p.Lys552=) c.1807A= (p.Lys603=) n.2198A= n.2522A= n.2165A= | |
19 | g.11123221A>C | CA404094912 | LDLR | c.2446A>C (p.Lys816Gln) c.*257A>C (n.*257A>C) c.2068A>C (p.Lys690Gln) c.2188A>C (p.Lys730Gln) c.2442A>C c.1684A>C (p.Lys562Gln) c.2065A>C (p.Lys689Gln) c.1654A>C (p.Lys552Gln) c.1807A>C (p.Lys603Gln) n.2198A>C n.2522A>C n.2165A>C | |
19 | g.11123221A>G | CA404094911 | LDLR | c.2446A>G (p.Lys816Glu) c.*257A>G (n.*257A>G) c.2068A>G (p.Lys690Glu) c.2188A>G (p.Lys730Glu) c.2442A>G c.1684A>G (p.Lys562Glu) c.2065A>G (p.Lys689Glu) c.1654A>G (p.Lys552Glu) c.1807A>G (p.Lys603Glu) n.2198A>G n.2522A>G n.2165A>G | |
19 | g.11123221A>T | CA404094909 | LDLR | c.2446A>T (p.Lys816Ter) c.*257A>T (n.*257A>T) c.2068A>T (p.Lys690Ter) c.2188A>T (p.Lys730Ter) c.2442A>T c.1684A>T (p.Lys562Ter) c.2065A>T (p.Lys689Ter) c.1654A>T (p.Lys552Ter) c.1807A>T (p.Lys603Ter) n.2198A>T n.2522A>T n.2165A>T | |
19 | g.11123222A>C | CA404094916 | LDLR | c.2447A>C (p.Lys816Thr) c.*258A>C (n.*258A>C) c.2069A>C (p.Lys690Thr) c.2189A>C (p.Lys730Thr) c.2443A>C c.1685A>C (p.Lys562Thr) c.2066A>C (p.Lys689Thr) c.1655A>C (p.Lys552Thr) c.1808A>C (p.Lys603Thr) n.2199A>C n.2523A>C n.2166A>C | |
19 | g.11123222A>G | CA404094918 | LDLR | c.2447A>G (p.Lys816Arg) c.*258A>G (n.*258A>G) c.2069A>G (p.Lys690Arg) c.2189A>G (p.Lys730Arg) c.2443A>G c.1685A>G (p.Lys562Arg) c.2066A>G (p.Lys689Arg) c.1655A>G (p.Lys552Arg) c.1808A>G (p.Lys603Arg) n.2199A>G n.2523A>G n.2166A>G | |
19 | g.11123222A>T | CA404094921 | LDLR | c.2447A>T (p.Lys816Met) c.*258A>T (n.*258A>T) c.2069A>T (p.Lys690Met) c.2189A>T (p.Lys730Met) c.2443A>T c.1685A>T (p.Lys562Met) c.2066A>T (p.Lys689Met) c.1655A>T (p.Lys552Met) c.1808A>T (p.Lys603Met) n.2199A>T n.2523A>T n.2166A>T | gnomAD v4 |
19 | g.11123222_11123223delinsAG | CA2322777192 | LDLR | c.2447_2448delinsAG (p.Lys816=) c.*258_*259delinsAG (n.*258_*259delinsAG) c.2069_2070delinsAG (p.Lys690=) c.2189_2190delinsAG (p.Lys730=) c.2443_2444delinsAG c.1685_1686delinsAG (p.Lys562=) c.2066_2067delinsAG (p.Lys689=) c.1655_1656delinsAG (p.Lys552=) c.1808_1809delinsAG (p.Lys603=) n.2199_2200delinsAG n.2523_2524delinsAG n.2166_2167delinsAG | |
19 | g.11123224_11123228dup | CA2573156038 | LDLR | c.2449_2453dup (p.Ser818ArgfsTer7) c.*260_*264dup (n.*260_*264dup) c.2071_2075dup (p.Ser692ArgfsTer7) c.2191_2195dup (p.Ser732ArgfsTer7) c.2445_2449dup c.1687_1691dup (p.Ser564ArgfsTer7) c.2068_2072dup (p.Ser691ArgfsTer7) c.1657_1661dup (p.Ser554ArgfsTer7) c.1810_1814dup (p.Ser605ArgfsTer7) n.2201_2205dup n.2525_2529dup n.2168_2172dup | ClinVar dbSNP |
19 | g.11123224_11123236dup | CA10585803 | LDLR | c.2449_2461dup (p.Ala821GlyfsTer?) c.*260_*272dup (n.*260_*272dup) c.2071_2083dup (p.Ala695GlyfsTer?) c.2191_2203dup (p.Ala735GlyfsTer?) c.2445_2457dup c.1687_1699dup (p.Ala567GlyfsTer?) c.2068_2080dup (p.Ala694GlyfsTer?) c.1657_1669dup (p.Ala557GlyfsTer?) c.1810_1822dup (p.Ala608GlyfsTer?) n.2201_2213dup n.2525_2537dup n.2168_2180dup | ClinVar dbSNP |
19 | g.11123223G>A | CA505486905 | LDLR | c.2448G>A (p.Lys816=) c.*259G>A (n.*259G>A) c.2070G>A (p.Lys690=) c.2190G>A (p.Lys730=) c.2444G>A c.1686G>A (p.Lys562=) c.2067G>A (p.Lys689=) c.1656G>A (p.Lys552=) c.1809G>A (p.Lys603=) n.2200G>A n.2524G>A n.2167G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123223G>C | CA404094925 | LDLR | c.2448G>C (p.Lys816Asn) c.*259G>C (n.*259G>C) c.2070G>C (p.Lys690Asn) c.2190G>C (p.Lys730Asn) c.2444G>C c.1686G>C (p.Lys562Asn) c.2067G>C (p.Lys689Asn) c.1656G>C (p.Lys552Asn) c.1809G>C (p.Lys603Asn) n.2200G>C n.2524G>C n.2167G>C | |
19 | g.11123223G= | CA2322777193 | LDLR | c.2448G= (p.Lys816=) c.*259G= (n.*259G=) c.2070G= (p.Lys690=) c.2190G= (p.Lys730=) c.2444G= c.1686G= (p.Lys562=) c.2067G= (p.Lys689=) c.1656G= (p.Lys552=) c.1809G= (p.Lys603=) n.2200G= n.2524G= n.2167G= | |
19 | g.11123223G>T | CA404094928 | LDLR | c.2448G>T (p.Lys816Asn) c.*259G>T (n.*259G>T) c.2070G>T (p.Lys690Asn) c.2190G>T (p.Lys730Asn) c.2444G>T c.1686G>T (p.Lys562Asn) c.2067G>T (p.Lys689Asn) c.1656G>T (p.Lys552Asn) c.1809G>T (p.Lys603Asn) n.2200G>T n.2524G>T n.2167G>T | ClinVar |
19 | g.11123224del | CA10585804 | LDLR | c.2449del (p.Val817SerfsTer6) c.*260del (n.*260del) c.2071del (p.Val691SerfsTer6) c.2191del (p.Val731SerfsTer6) c.2445del c.1687del (p.Val563SerfsTer6) c.2068del (p.Val690SerfsTer6) c.1657del (p.Val553SerfsTer6) c.1810del (p.Val604SerfsTer6) n.2201del n.2525del n.2168del | ClinVar dbSNP |
19 | g.11123224G>A | CA404094934 | LDLR | c.2449G>A (p.Val817Ile) c.*260G>A (n.*260G>A) c.2071G>A (p.Val691Ile) c.2191G>A (p.Val731Ile) c.2445G>A c.1687G>A (p.Val563Ile) c.2068G>A (p.Val690Ile) c.1657G>A (p.Val553Ile) c.1810G>A (p.Val604Ile) n.2201G>A n.2525G>A n.2168G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123224G>C | CA404094941 | LDLR | c.2449G>C (p.Val817Leu) c.*260G>C (n.*260G>C) c.2071G>C (p.Val691Leu) c.2191G>C (p.Val731Leu) c.2445G>C c.1687G>C (p.Val563Leu) c.2068G>C (p.Val690Leu) c.1657G>C (p.Val553Leu) c.1810G>C (p.Val604Leu) n.2201G>C n.2525G>C n.2168G>C | |
19 | g.11123224G= | CA2322777194 | LDLR | c.2449G= (p.Val817=) c.*260G= (n.*260G=) c.2071G= (p.Val691=) c.2191G= (p.Val731=) c.2445G= c.1687G= (p.Val563=) c.2068G= (p.Val690=) c.1657G= (p.Val553=) c.1810G= (p.Val604=) n.2201G= n.2525G= n.2168G= | |
19 | g.11123224G>T | CA404094937 | LDLR | c.2449G>T (p.Val817Phe) c.*260G>T (n.*260G>T) c.2071G>T (p.Val691Phe) c.2191G>T (p.Val731Phe) c.2445G>T c.1687G>T (p.Val563Phe) c.2068G>T (p.Val690Phe) c.1657G>T (p.Val553Phe) c.1810G>T (p.Val604Phe) n.2201G>T n.2525G>T n.2168G>T | |
19 | g.11123225T>A | CA404094945 | LDLR | c.2450T>A (p.Val817Asp) c.*261T>A (n.*261T>A) c.2072T>A (p.Val691Asp) c.2192T>A (p.Val731Asp) c.2446T>A c.1688T>A (p.Val563Asp) c.2069T>A (p.Val690Asp) c.1658T>A (p.Val553Asp) c.1811T>A (p.Val604Asp) n.2202T>A n.2526T>A n.2169T>A | |
19 | g.11123225T>C | CA404094947 | LDLR | c.2450T>C (p.Val817Ala) c.*261T>C (n.*261T>C) c.2072T>C (p.Val691Ala) c.2192T>C (p.Val731Ala) c.2446T>C c.1688T>C (p.Val563Ala) c.2069T>C (p.Val690Ala) c.1658T>C (p.Val553Ala) c.1811T>C (p.Val604Ala) n.2202T>C n.2526T>C n.2169T>C | |
19 | g.11123225T>G | CA404094949 | LDLR | c.2450T>G (p.Val817Gly) c.*261T>G (n.*261T>G) c.2072T>G (p.Val691Gly) c.2192T>G (p.Val731Gly) c.2446T>G c.1688T>G (p.Val563Gly) c.2069T>G (p.Val690Gly) c.1658T>G (p.Val553Gly) c.1811T>G (p.Val604Gly) n.2202T>G n.2526T>G n.2169T>G | dbSNP |
19 | g.11123225T= | CA2322777195 | LDLR | c.2450T= (p.Val817=) c.*261T= (n.*261T=) c.2072T= (p.Val691=) c.2192T= (p.Val731=) c.2446T= c.1688T= (p.Val563=) c.2069T= (p.Val690=) c.1658T= (p.Val553=) c.1811T= (p.Val604=) n.2202T= n.2526T= n.2169T= | |
19 | g.11123227_11123231dup | CA2573156039 | LDLR | c.2452_2456dup (p.Thr820AlafsTer5) c.*263_*267dup (n.*263_*267dup) c.2074_2078dup (p.Thr694AlafsTer5) c.2194_2198dup (p.Thr734AlafsTer5) c.2448_2452dup c.1690_1694dup (p.Thr566AlafsTer5) c.2071_2075dup (p.Thr693AlafsTer5) c.1660_1664dup (p.Thr556AlafsTer5) c.1813_1817dup (p.Thr607AlafsTer5) n.2204_2208dup n.2528_2532dup n.2171_2175dup | ClinVar dbSNP |
19 | g.11123225_11123237dup | CA2695228317 | LDLR | c.2450_2462dup (p.Val822GlnfsTer?) c.*261_*273dup (n.*261_*273dup) c.2072_2084dup (p.Val696GlnfsTer?) c.2192_2204dup (p.Val736GlnfsTer?) c.2446_2458dup c.1688_1700dup (p.Val568GlnfsTer?) c.2069_2081dup (p.Val695GlnfsTer?) c.1658_1670dup (p.Val558GlnfsTer?) c.1811_1823dup (p.Val609GlnfsTer?) n.2202_2214dup n.2526_2538dup n.2169_2181dup | |
19 | g.11123226C>A | CA505486907 | LDLR | c.2451C>A (p.Val817=) c.*262C>A (n.*262C>A) c.2073C>A (p.Val691=) c.2193C>A (p.Val731=) c.2447C>A c.1689C>A (p.Val563=) c.2070C>A (p.Val690=) c.1659C>A (p.Val553=) c.1812C>A (p.Val604=) n.2203C>A n.2527C>A n.2170C>A | |
19 | g.11123226C= | CA2322777196 | LDLR | c.2451C= (p.Val817=) c.*262C= (n.*262C=) c.2073C= (p.Val691=) c.2193C= (p.Val731=) c.2447C= c.1689C= (p.Val563=) c.2070C= (p.Val690=) c.1659C= (p.Val553=) c.1812C= (p.Val604=) n.2203C= n.2527C= n.2170C= | |
19 | g.11123226C>G | CA505486909 | LDLR | c.2451C>G (p.Val817=) c.*262C>G (n.*262C>G) c.2073C>G (p.Val691=) c.2193C>G (p.Val731=) c.2447C>G c.1689C>G (p.Val563=) c.2070C>G (p.Val690=) c.1659C>G (p.Val553=) c.1812C>G (p.Val604=) n.2203C>G n.2527C>G n.2170C>G | |
19 | g.11123226C>T | CA505486908 | LDLR | c.2451C>T (p.Val817=) c.*262C>T (n.*262C>T) c.2073C>T (p.Val691=) c.2193C>T (p.Val731=) c.2447C>T c.1689C>T (p.Val563=) c.2070C>T (p.Val690=) c.1659C>T (p.Val553=) c.1812C>T (p.Val604=) n.2203C>T n.2527C>T n.2170C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123226dup | CA2573156040 | LDLR | c.2451dup (p.Ser818GlnfsTer?) c.*262dup (n.*262dup) c.2073dup (p.Ser692GlnfsTer?) c.2193dup (p.Ser732GlnfsTer?) c.2447dup c.1689dup (p.Ser564GlnfsTer?) c.2070dup (p.Ser691GlnfsTer?) c.1659dup (p.Ser554GlnfsTer?) c.1812dup (p.Ser605GlnfsTer?) n.2203dup n.2527dup n.2170dup | ClinVar dbSNP |
19 | g.11123227A>C | CA404094953 | LDLR | c.2452A>C (p.Ser818Arg) c.*263A>C (n.*263A>C) c.2074A>C (p.Ser692Arg) c.2194A>C (p.Ser732Arg) c.2448A>C c.1690A>C (p.Ser564Arg) c.2071A>C (p.Ser691Arg) c.1660A>C (p.Ser554Arg) c.1813A>C (p.Ser605Arg) n.2204A>C n.2528A>C n.2171A>C | |
19 | g.11123227A>G | CA404094956 | LDLR | c.2452A>G (p.Ser818Gly) c.*263A>G (n.*263A>G) c.2074A>G (p.Ser692Gly) c.2194A>G (p.Ser732Gly) c.2448A>G c.1690A>G (p.Ser564Gly) c.2071A>G (p.Ser691Gly) c.1660A>G (p.Ser554Gly) c.1813A>G (p.Ser605Gly) n.2204A>G n.2528A>G n.2171A>G | |
19 | g.11123227A>T | CA404094958 | LDLR | c.2452A>T (p.Ser818Cys) c.*263A>T (n.*263A>T) c.2074A>T (p.Ser692Cys) c.2194A>T (p.Ser732Cys) c.2448A>T c.1690A>T (p.Ser564Cys) c.2071A>T (p.Ser691Cys) c.1660A>T (p.Ser554Cys) c.1813A>T (p.Ser605Cys) n.2204A>T n.2528A>T n.2171A>T | |
19 | g.11123228G>A | CA404094961 | LDLR | c.2453G>A (p.Ser818Asn) c.*264G>A (n.*264G>A) c.2075G>A (p.Ser692Asn) c.2195G>A (p.Ser732Asn) c.2449G>A c.1691G>A (p.Ser564Asn) c.2072G>A (p.Ser691Asn) c.1661G>A (p.Ser554Asn) c.1814G>A (p.Ser605Asn) n.2205G>A n.2529G>A n.2172G>A | |
19 | g.11123228G>C | CA039083 | LDLR | c.2453G>C (p.Ser818Thr) c.*264G>C (n.*264G>C) c.2075G>C (p.Ser692Thr) c.2195G>C (p.Ser732Thr) c.2449G>C c.1691G>C (p.Ser564Thr) c.2072G>C (p.Ser691Thr) c.1661G>C (p.Ser554Thr) c.1814G>C (p.Ser605Thr) n.2205G>C n.2529G>C n.2172G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123228G= | CA2322777197 | LDLR | c.2453G= (p.Ser818=) c.*264G= (n.*264G=) c.2075G= (p.Ser692=) c.2195G= (p.Ser732=) c.2449G= c.1691G= (p.Ser564=) c.2072G= (p.Ser691=) c.1661G= (p.Ser554=) c.1814G= (p.Ser605=) n.2205G= n.2529G= n.2172G= | |
19 | g.11123228G>T | CA404094966 | LDLR | c.2453G>T (p.Ser818Ile) c.*264G>T (n.*264G>T) c.2075G>T (p.Ser692Ile) c.2195G>T (p.Ser732Ile) c.2449G>T c.1691G>T (p.Ser564Ile) c.2072G>T (p.Ser691Ile) c.1661G>T (p.Ser554Ile) c.1814G>T (p.Ser605Ile) n.2205G>T n.2529G>T n.2172G>T | gnomAD v4 |
19 | g.11123229C>A | CA404094969 | LDLR | c.2454C>A (p.Ser818Arg) c.*265C>A (n.*265C>A) c.2076C>A (p.Ser692Arg) c.2196C>A (p.Ser732Arg) c.2450C>A c.1692C>A (p.Ser564Arg) c.2073C>A (p.Ser691Arg) c.1662C>A (p.Ser554Arg) c.1815C>A (p.Ser605Arg) n.2206C>A n.2530C>A n.2173C>A | |
19 | g.11123229C= | CA2322777198 | LDLR | c.2454C= (p.Ser818=) c.*265C= (n.*265C=) c.2076C= (p.Ser692=) c.2196C= (p.Ser732=) c.2450C= c.1692C= (p.Ser564=) c.2073C= (p.Ser691=) c.1662C= (p.Ser554=) c.1815C= (p.Ser605=) n.2206C= n.2530C= n.2173C= | |
19 | g.11123229C>G | CA404094971 | LDLR | c.2454C>G (p.Ser818Arg) c.*265C>G (n.*265C>G) c.2076C>G (p.Ser692Arg) c.2196C>G (p.Ser732Arg) c.2450C>G c.1692C>G (p.Ser564Arg) c.2073C>G (p.Ser691Arg) c.1662C>G (p.Ser554Arg) c.1815C>G (p.Ser605Arg) n.2206C>G n.2530C>G n.2173C>G | gnomAD v4 |
19 | g.11123229C>T | CA505486911 | LDLR | c.2454C>T (p.Ser818=) c.*265C>T (n.*265C>T) c.2076C>T (p.Ser692=) c.2196C>T (p.Ser732=) c.2450C>T c.1692C>T (p.Ser564=) c.2073C>T (p.Ser691=) c.1662C>T (p.Ser554=) c.1815C>T (p.Ser605=) n.2206C>T n.2530C>T n.2173C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123230T>A | CA404094974 | LDLR | c.2455T>A (p.Ser819Thr) c.*266T>A (n.*266T>A) c.2077T>A (p.Ser693Thr) c.2197T>A (p.Ser733Thr) c.2451T>A c.1693T>A (p.Ser565Thr) c.2074T>A (p.Ser692Thr) c.1663T>A (p.Ser555Thr) c.1816T>A (p.Ser606Thr) n.2207T>A n.2531T>A n.2174T>A | |
19 | g.11123230T>C | CA039090 | LDLR | c.2455T>C (p.Ser819Pro) c.*266T>C (n.*266T>C) c.2077T>C (p.Ser693Pro) c.2197T>C (p.Ser733Pro) c.2451T>C c.1693T>C (p.Ser565Pro) c.2074T>C (p.Ser692Pro) c.1663T>C (p.Ser555Pro) c.1816T>C (p.Ser606Pro) n.2207T>C n.2531T>C n.2174T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123230T>G | CA404094980 | LDLR | c.2455T>G (p.Ser819Ala) c.*266T>G (n.*266T>G) c.2077T>G (p.Ser693Ala) c.2197T>G (p.Ser733Ala) c.2451T>G c.1693T>G (p.Ser565Ala) c.2074T>G (p.Ser692Ala) c.1663T>G (p.Ser555Ala) c.1816T>G (p.Ser606Ala) n.2207T>G n.2531T>G n.2174T>G | |
19 | g.11123230T= | CA2322777199 | LDLR | c.2455T= (p.Ser819=) c.*266T= (n.*266T=) c.2077T= (p.Ser693=) c.2197T= (p.Ser733=) c.2451T= c.1693T= (p.Ser565=) c.2074T= (p.Ser692=) c.1663T= (p.Ser555=) c.1816T= (p.Ser606=) n.2207T= n.2531T= n.2174T= | |
19 | g.11123231C>A | CA404094984 | LDLR | c.2456C>A (p.Ser819Tyr) c.*267C>A (n.*267C>A) c.2078C>A (p.Ser693Tyr) c.2198C>A (p.Ser733Tyr) c.2452C>A c.1694C>A (p.Ser565Tyr) c.2075C>A (p.Ser692Tyr) c.1664C>A (p.Ser555Tyr) c.1817C>A (p.Ser606Tyr) n.2208C>A n.2532C>A n.2175C>A | |
19 | g.11123231C= | CA2322777200 | LDLR | c.2456C= (p.Ser819=) c.*267C= (n.*267C=) c.2078C= (p.Ser693=) c.2198C= (p.Ser733=) c.2452C= c.1694C= (p.Ser565=) c.2075C= (p.Ser692=) c.1664C= (p.Ser555=) c.1817C= (p.Ser606=) n.2208C= n.2532C= n.2175C= | |
19 | g.11123231C>G | CA404094985 | LDLR | c.2456C>G (p.Ser819Cys) c.*267C>G (n.*267C>G) c.2078C>G (p.Ser693Cys) c.2198C>G (p.Ser733Cys) c.2452C>G c.1694C>G (p.Ser565Cys) c.2075C>G (p.Ser692Cys) c.1664C>G (p.Ser555Cys) c.1817C>G (p.Ser606Cys) n.2208C>G n.2532C>G n.2175C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123231C>T | CA10585805 | LDLR | c.2456C>T (p.Ser819Phe) c.*267C>T (n.*267C>T) c.2078C>T (p.Ser693Phe) c.2198C>T (p.Ser733Phe) c.2452C>T c.1694C>T (p.Ser565Phe) c.2075C>T (p.Ser692Phe) c.1664C>T (p.Ser555Phe) c.1817C>T (p.Ser606Phe) n.2208C>T n.2532C>T n.2175C>T | ClinVar dbSNP |
19 | g.11123231_11123233delinsCCA | CA2322777201 | LDLR | c.2456_2458delinsCCA (p.Ser819=) c.*267_*269delinsCCA (n.*267_*269delinsCCA) c.2078_2080delinsCCA (p.Ser693=) c.2198_2200delinsCCA (p.Ser733=) c.2452_2454delinsCCA c.1694_1696delinsCCA (p.Ser565=) c.2075_2077delinsCCA (p.Ser692=) c.1664_1666delinsCCA (p.Ser555=) c.1817_1819delinsCCA (p.Ser606=) n.2208_2210delinsCCA n.2532_2534delinsCCA n.2175_2177delinsCCA | |
19 | g.11123232C>A | CA505486913 | LDLR | c.2457C>A (p.Ser819=) c.*268C>A (n.*268C>A) c.2079C>A (p.Ser693=) c.2199C>A (p.Ser733=) c.2453C>A c.1695C>A (p.Ser565=) c.2076C>A (p.Ser692=) c.1665C>A (p.Ser555=) c.1818C>A (p.Ser606=) n.2209C>A n.2533C>A n.2176C>A | |
19 | g.11123232C>G | CA505486914 | LDLR | c.2457C>G (p.Ser819=) c.*268C>G (n.*268C>G) c.2079C>G (p.Ser693=) c.2199C>G (p.Ser733=) c.2453C>G c.1695C>G (p.Ser565=) c.2076C>G (p.Ser692=) c.1665C>G (p.Ser555=) c.1818C>G (p.Ser606=) n.2209C>G n.2533C>G n.2176C>G | |
19 | g.11123232C>T | CA505486915 | LDLR | c.2457C>T (p.Ser819=) c.*268C>T (n.*268C>T) c.2079C>T (p.Ser693=) c.2199C>T (p.Ser733=) c.2453C>T c.1695C>T (p.Ser565=) c.2076C>T (p.Ser692=) c.1665C>T (p.Ser555=) c.1818C>T (p.Ser606=) n.2209C>T n.2533C>T n.2176C>T | |
19 | g.11123234_11123235del | CA10585806 | LDLR | c.2459_2460del (p.Thr820SerfsTer?) c.*270_*271del (n.*270_*271del) c.2081_2082del (p.Thr694SerfsTer?) c.2201_2202del (p.Thr734SerfsTer?) c.2455_2456del c.1697_1698del (p.Thr566SerfsTer?) c.2078_2079del (p.Thr693SerfsTer?) c.1667_1668del (p.Thr556SerfsTer?) c.1820_1821del (p.Thr607SerfsTer?) n.2211_2212del n.2535_2536del n.2178_2179del | ClinVar dbSNP |
19 | g.11123233A= | CA2322777202 | LDLR | c.2458A= (p.Thr820=) c.*269A= (n.*269A=) c.2080A= (p.Thr694=) c.2200A= (p.Thr734=) c.2454A= c.1696A= (p.Thr566=) c.2077A= (p.Thr693=) c.1666A= (p.Thr556=) c.1819A= (p.Thr607=) n.2210A= n.2534A= n.2177A= | |
19 | g.11123233A>C | CA039105 | LDLR | c.2458A>C (p.Thr820Pro) c.*269A>C (n.*269A>C) c.2080A>C (p.Thr694Pro) c.2200A>C (p.Thr734Pro) c.2454A>C c.1696A>C (p.Thr566Pro) c.2077A>C (p.Thr693Pro) c.1666A>C (p.Thr556Pro) c.1819A>C (p.Thr607Pro) n.2210A>C n.2534A>C n.2177A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123233A>G | CA404094992 | LDLR | c.2458A>G (p.Thr820Ala) c.*269A>G (n.*269A>G) c.2080A>G (p.Thr694Ala) c.2200A>G (p.Thr734Ala) c.2454A>G c.1696A>G (p.Thr566Ala) c.2077A>G (p.Thr693Ala) c.1666A>G (p.Thr556Ala) c.1819A>G (p.Thr607Ala) n.2210A>G n.2534A>G n.2177A>G | ClinVar gnomAD v4 |
19 | g.11123233A>T | CA404094996 | LDLR | c.2458A>T (p.Thr820Ser) c.*269A>T (n.*269A>T) c.2080A>T (p.Thr694Ser) c.2200A>T (p.Thr734Ser) c.2454A>T c.1696A>T (p.Thr566Ser) c.2077A>T (p.Thr693Ser) c.1666A>T (p.Thr556Ser) c.1819A>T (p.Thr607Ser) n.2210A>T n.2534A>T n.2177A>T | |
19 | g.11123234C>A | CA404095000 | LDLR | c.2459C>A (p.Thr820Lys) c.*270C>A (n.*270C>A) c.2081C>A (p.Thr694Lys) c.2201C>A (p.Thr734Lys) c.2455C>A c.1697C>A (p.Thr566Lys) c.2078C>A (p.Thr693Lys) c.1667C>A (p.Thr556Lys) c.1820C>A (p.Thr607Lys) n.2211C>A n.2535C>A n.2178C>A | |
19 | g.11123234C= | CA2322777203 | LDLR | c.2459C= (p.Thr820=) c.*270C= (n.*270C=) c.2081C= (p.Thr694=) c.2201C= (p.Thr734=) c.2455C= c.1697C= (p.Thr566=) c.2078C= (p.Thr693=) c.1667C= (p.Thr556=) c.1820C= (p.Thr607=) n.2211C= n.2535C= n.2178C= | |
19 | g.11123234C>G | CA404095002 | LDLR | c.2459C>G (p.Thr820Arg) c.*270C>G (n.*270C>G) c.2081C>G (p.Thr694Arg) c.2201C>G (p.Thr734Arg) c.2455C>G c.1697C>G (p.Thr566Arg) c.2078C>G (p.Thr693Arg) c.1667C>G (p.Thr556Arg) c.1820C>G (p.Thr607Arg) n.2211C>G n.2535C>G n.2178C>G | |
19 | g.11123234C>T | CA039114 | LDLR | c.2459C>T (p.Thr820Ile) c.*270C>T (n.*270C>T) c.2081C>T (p.Thr694Ile) c.2201C>T (p.Thr734Ile) c.2455C>T c.1697C>T (p.Thr566Ile) c.2078C>T (p.Thr693Ile) c.1667C>T (p.Thr556Ile) c.1820C>T (p.Thr607Ile) n.2211C>T n.2535C>T n.2178C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123235A>C | CA505486919 | LDLR | c.2460A>C (p.Thr820=) c.*271A>C (n.*271A>C) c.2082A>C (p.Thr694=) c.2202A>C (p.Thr734=) c.2456A>C c.1698A>C (p.Thr566=) c.2079A>C (p.Thr693=) c.1668A>C (p.Thr556=) c.1821A>C (p.Thr607=) n.2212A>C n.2536A>C n.2179A>C | |
19 | g.11123235A>G | CA505486920 | LDLR | c.2460A>G (p.Thr820=) c.*271A>G (n.*271A>G) c.2082A>G (p.Thr694=) c.2202A>G (p.Thr734=) c.2456A>G c.1698A>G (p.Thr566=) c.2079A>G (p.Thr693=) c.1668A>G (p.Thr556=) c.1821A>G (p.Thr607=) n.2212A>G n.2536A>G n.2179A>G | |
19 | g.11123235A>T | CA505486921 | LDLR | c.2460A>T (p.Thr820=) c.*271A>T (n.*271A>T) c.2082A>T (p.Thr694=) c.2202A>T (p.Thr734=) c.2456A>T c.1698A>T (p.Thr566=) c.2079A>T (p.Thr693=) c.1668A>T (p.Thr556=) c.1821A>T (p.Thr607=) n.2212A>T n.2536A>T n.2179A>T | |
19 | g.11123236G>A | CA404095011 | LDLR | c.2461G>A (p.Ala821Thr) c.*272G>A (n.*272G>A) c.2083G>A (p.Ala695Thr) c.2203G>A (p.Ala735Thr) c.2457G>A c.1699G>A (p.Ala567Thr) c.2080G>A (p.Ala694Thr) c.1669G>A (p.Ala557Thr) c.1822G>A (p.Ala608Thr) n.2213G>A n.2537G>A n.2180G>A | |
19 | g.11123236G>C | CA404095007 | LDLR | c.2461G>C (p.Ala821Pro) c.*272G>C (n.*272G>C) c.2083G>C (p.Ala695Pro) c.2203G>C (p.Ala735Pro) c.2457G>C c.1699G>C (p.Ala567Pro) c.2080G>C (p.Ala694Pro) c.1669G>C (p.Ala557Pro) c.1822G>C (p.Ala608Pro) n.2213G>C n.2537G>C n.2180G>C | |
19 | g.11123236G>T | CA404095010 | LDLR | c.2461G>T (p.Ala821Ser) c.*272G>T (n.*272G>T) c.2083G>T (p.Ala695Ser) c.2203G>T (p.Ala735Ser) c.2457G>T c.1699G>T (p.Ala567Ser) c.2080G>T (p.Ala694Ser) c.1669G>T (p.Ala557Ser) c.1822G>T (p.Ala608Ser) n.2213G>T n.2537G>T n.2180G>T | |
19 | g.11123237C>A | CA404095015 | LDLR | c.2462C>A (p.Ala821Asp) c.*273C>A (n.*273C>A) c.2084C>A (p.Ala695Asp) c.2204C>A (p.Ala735Asp) c.2458C>A c.1700C>A (p.Ala567Asp) c.2081C>A (p.Ala694Asp) c.1670C>A (p.Ala557Asp) c.1823C>A (p.Ala608Asp) n.2214C>A n.2538C>A n.2181C>A | |
19 | g.11123237C>G | CA404095018 | LDLR | c.2462C>G (p.Ala821Gly) c.*273C>G (n.*273C>G) c.2084C>G (p.Ala695Gly) c.2204C>G (p.Ala735Gly) c.2458C>G c.1700C>G (p.Ala567Gly) c.2081C>G (p.Ala694Gly) c.1670C>G (p.Ala557Gly) c.1823C>G (p.Ala608Gly) n.2214C>G n.2538C>G n.2181C>G | |
19 | g.11123237C>T | CA404095029 | LDLR | c.2462C>T (p.Ala821Val) c.*273C>T (n.*273C>T) c.2084C>T (p.Ala695Val) c.2204C>T (p.Ala735Val) c.2458C>T c.1700C>T (p.Ala567Val) c.2081C>T (p.Ala694Val) c.1670C>T (p.Ala557Val) c.1823C>T (p.Ala608Val) n.2214C>T n.2538C>T n.2181C>T | |
19 | g.11123238C>A | CA505486923 | LDLR | c.2463C>A (p.Ala821=) c.*274C>A (n.*274C>A) c.2085C>A (p.Ala695=) c.2205C>A (p.Ala735=) c.2459C>A c.1701C>A (p.Ala567=) c.2082C>A (p.Ala694=) c.1671C>A (p.Ala557=) c.1824C>A (p.Ala608=) n.2215C>A n.2539C>A n.2182C>A | |
19 | g.11123238C= | CA2322777204 | LDLR | c.2463C= (p.Ala821=) c.*274C= (n.*274C=) c.2085C= (p.Ala695=) c.2205C= (p.Ala735=) c.2459C= c.1701C= (p.Ala567=) c.2082C= (p.Ala694=) c.1671C= (p.Ala557=) c.1824C= (p.Ala608=) n.2215C= n.2539C= n.2182C= | |
19 | g.11123238C>G | CA505486924 | LDLR | c.2463C>G (p.Ala821=) c.*274C>G (n.*274C>G) c.2085C>G (p.Ala695=) c.2205C>G (p.Ala735=) c.2459C>G c.1701C>G (p.Ala567=) c.2082C>G (p.Ala694=) c.1671C>G (p.Ala557=) c.1824C>G (p.Ala608=) n.2215C>G n.2539C>G n.2182C>G | |
19 | g.11123238C>T | CA039120 | LDLR | c.2463C>T (p.Ala821=) c.*274C>T (n.*274C>T) c.2085C>T (p.Ala695=) c.2205C>T (p.Ala735=) c.2459C>T c.1701C>T (p.Ala567=) c.2082C>T (p.Ala694=) c.1671C>T (p.Ala557=) c.1824C>T (p.Ala608=) n.2215C>T n.2539C>T n.2182C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123238_11123239insTT | CA2497030102 | LDLR | c.2463_2464insTT (p.Val822LeufsTer2) c.*274_*275insTT (n.*274_*275insTT) c.2085_2086insTT (p.Val696LeufsTer2) c.2205_2206insTT (p.Val736LeufsTer2) c.2459_2460insTT c.1701_1702insTT (p.Val568LeufsTer2) c.2082_2083insTT (p.Val695LeufsTer2) c.1671_1672insTT (p.Val558LeufsTer2) c.1824_1825insTT (p.Val609LeufsTer2) n.2215_2216insTT n.2539_2540insTT n.2182_2183insTT | |
19 | g.11123239G>A | CA039136 | LDLR | c.2464G>A (p.Val822Ile) c.*275G>A (n.*275G>A) c.2086G>A (p.Val696Ile) c.2206G>A (p.Val736Ile) c.2460G>A c.1702G>A (p.Val568Ile) c.2083G>A (p.Val695Ile) c.1672G>A (p.Val558Ile) c.1825G>A (p.Val609Ile) n.2216G>A n.2540G>A n.2183G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123239G>C | CA404095033 | LDLR | c.2464G>C (p.Val822Leu) c.*275G>C (n.*275G>C) c.2086G>C (p.Val696Leu) c.2206G>C (p.Val736Leu) c.2460G>C c.1702G>C (p.Val568Leu) c.2083G>C (p.Val695Leu) c.1672G>C (p.Val558Leu) c.1825G>C (p.Val609Leu) n.2216G>C n.2540G>C n.2183G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123239G= | CA2322777205 | LDLR | c.2464G= (p.Val822=) c.*275G= (n.*275G=) c.2086G= (p.Val696=) c.2206G= (p.Val736=) c.2460G= c.1702G= (p.Val568=) c.2083G= (p.Val695=) c.1672G= (p.Val558=) c.1825G= (p.Val609=) n.2216G= n.2540G= n.2183G= | |
19 | g.11123239G>T | CA404095036 | LDLR | c.2464G>T (p.Val822Leu) c.*275G>T (n.*275G>T) c.2086G>T (p.Val696Leu) c.2206G>T (p.Val736Leu) c.2460G>T c.1702G>T (p.Val568Leu) c.2083G>T (p.Val695Leu) c.1672G>T (p.Val558Leu) c.1825G>T (p.Val609Leu) n.2216G>T n.2540G>T n.2183G>T | |
19 | g.11123240T>A | CA404095037 | LDLR | c.2465T>A (p.Val822Glu) c.*276T>A (n.*276T>A) c.2087T>A (p.Val696Glu) c.2207T>A (p.Val736Glu) c.2461T>A c.1703T>A (p.Val568Glu) c.2084T>A (p.Val695Glu) c.1673T>A (p.Val558Glu) c.1826T>A (p.Val609Glu) n.2217T>A n.2541T>A n.2184T>A | |
19 | g.11123240T>C | CA404095040 | LDLR | c.2465T>C (p.Val822Ala) c.*276T>C (n.*276T>C) c.2087T>C (p.Val696Ala) c.2207T>C (p.Val736Ala) c.2461T>C c.1703T>C (p.Val568Ala) c.2084T>C (p.Val695Ala) c.1673T>C (p.Val558Ala) c.1826T>C (p.Val609Ala) n.2217T>C n.2541T>C n.2184T>C | |
19 | g.11123240T>G | CA404095043 | LDLR | c.2465T>G (p.Val822Gly) c.*276T>G (n.*276T>G) c.2087T>G (p.Val696Gly) c.2207T>G (p.Val736Gly) c.2461T>G c.1703T>G (p.Val568Gly) c.2084T>G (p.Val695Gly) c.1673T>G (p.Val558Gly) c.1826T>G (p.Val609Gly) n.2217T>G n.2541T>G n.2184T>G | ClinVar |
19 | g.11123240dup | CA10585807 | LDLR | c.2465dup (p.Arg823LysfsTer?) c.*276dup (n.*276dup) c.2087dup (p.Arg697LysfsTer?) c.2207dup (p.Arg737LysfsTer?) c.2461dup c.1703dup (p.Arg569LysfsTer?) c.2084dup (p.Arg696LysfsTer?) c.1673dup (p.Arg559LysfsTer?) c.1826dup (p.Arg610LysfsTer?) n.2217dup n.2541dup n.2184dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123241A= | CA2322777206 | LDLR | c.2466A= (p.Val822=) c.*277A= (n.*277A=) c.2088A= (p.Val696=) c.2208A= (p.Val736=) c.2462A= c.1704A= (p.Val568=) c.2085A= (p.Val695=) c.1674A= (p.Val558=) c.1827A= (p.Val609=) n.2218A= n.2542A= n.2185A= | |
19 | g.11123241A>C | CA505486925 | LDLR | c.2466A>C (p.Val822=) c.*277A>C (n.*277A>C) c.2088A>C (p.Val696=) c.2208A>C (p.Val736=) c.2462A>C c.1704A>C (p.Val568=) c.2085A>C (p.Val695=) c.1674A>C (p.Val558=) c.1827A>C (p.Val609=) n.2218A>C n.2542A>C n.2185A>C | |
19 | g.11123241A>G | CA505486927 | LDLR | c.2466A>G (p.Val822=) c.*277A>G (n.*277A>G) c.2088A>G (p.Val696=) c.2208A>G (p.Val736=) c.2462A>G c.1704A>G (p.Val568=) c.2085A>G (p.Val695=) c.1674A>G (p.Val558=) c.1827A>G (p.Val609=) n.2218A>G n.2542A>G n.2185A>G | |
19 | g.11123241A>T | CA505486928 | LDLR | c.2466A>T (p.Val822=) c.*277A>T (n.*277A>T) c.2088A>T (p.Val696=) c.2208A>T (p.Val736=) c.2462A>T c.1704A>T (p.Val568=) c.2085A>T (p.Val695=) c.1674A>T (p.Val558=) c.1827A>T (p.Val609=) n.2218A>T n.2542A>T n.2185A>T | ClinVar dbSNP |
19 | g.11123242A= | CA2322777207 | LDLR | c.2467A= (p.Arg823=) c.*278A= (n.*278A=) c.2089A= (p.Arg697=) c.2209A= (p.Arg737=) c.2463A= c.1705A= (p.Arg569=) c.2086A= (p.Arg696=) c.1675A= (p.Arg559=) c.1828A= (p.Arg610=) n.2219A= n.2543A= n.2186A= | |
19 | g.11123242A>C | CA505486929 | LDLR | c.2467A>C (p.Arg823=) c.*278A>C (n.*278A>C) c.2089A>C (p.Arg697=) c.2209A>C (p.Arg737=) c.2463A>C c.1705A>C (p.Arg569=) c.2086A>C (p.Arg696=) c.1675A>C (p.Arg559=) c.1828A>C (p.Arg610=) n.2219A>C n.2543A>C n.2186A>C | |
19 | g.11123242A>G | CA10585808 | LDLR | c.2467A>G (p.Arg823Gly) c.*278A>G (n.*278A>G) c.2089A>G (p.Arg697Gly) c.2209A>G (p.Arg737Gly) c.2463A>G c.1705A>G (p.Arg569Gly) c.2086A>G (p.Arg696Gly) c.1675A>G (p.Arg559Gly) c.1828A>G (p.Arg610Gly) n.2219A>G n.2543A>G n.2186A>G | ClinVar dbSNP |
19 | g.11123242A>T | CA404095047 | LDLR | c.2467A>T (p.Arg823Trp) c.*278A>T (n.*278A>T) c.2089A>T (p.Arg697Trp) c.2209A>T (p.Arg737Trp) c.2463A>T c.1705A>T (p.Arg569Trp) c.2086A>T (p.Arg696Trp) c.1675A>T (p.Arg559Trp) c.1828A>T (p.Arg610Trp) n.2219A>T n.2543A>T n.2186A>T | |
19 | g.11123243G>A | CA404095054 | LDLR | c.2468G>A (p.Arg823Lys) c.*279G>A (n.*279G>A) c.2090G>A (p.Arg697Lys) c.2210G>A (p.Arg737Lys) c.2464G>A c.1706G>A (p.Arg569Lys) c.2087G>A (p.Arg696Lys) c.1676G>A (p.Arg559Lys) c.1829G>A (p.Arg610Lys) n.2220G>A n.2544G>A n.2187G>A | |
19 | g.11123243G>C | CA404095051 | LDLR | c.2468G>C (p.Arg823Thr) c.*279G>C (n.*279G>C) c.2090G>C (p.Arg697Thr) c.2210G>C (p.Arg737Thr) c.2464G>C c.1706G>C (p.Arg569Thr) c.2087G>C (p.Arg696Thr) c.1676G>C (p.Arg559Thr) c.1829G>C (p.Arg610Thr) n.2220G>C n.2544G>C n.2187G>C | |
19 | g.11123243G= | CA2322777208 | LDLR | c.2468G= (p.Arg823=) c.*279G= (n.*279G=) c.2090G= (p.Arg697=) c.2210G= (p.Arg737=) c.2464G= c.1706G= (p.Arg569=) c.2087G= (p.Arg696=) c.1676G= (p.Arg559=) c.1829G= (p.Arg610=) n.2220G= n.2544G= n.2187G= | |
19 | g.11123243G>T | CA404095050 | LDLR | c.2468G>T (p.Arg823Met) c.*279G>T (n.*279G>T) c.2090G>T (p.Arg697Met) c.2210G>T (p.Arg737Met) c.2464G>T c.1706G>T (p.Arg569Met) c.2087G>T (p.Arg696Met) c.1676G>T (p.Arg559Met) c.1829G>T (p.Arg610Met) n.2220G>T n.2544G>T n.2187G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123244G>A | CA505486931 | LDLR | c.2469G>A (p.Arg823=) c.*280G>A (n.*280G>A) c.2091G>A (p.Arg697=) c.2211G>A (p.Arg737=) c.2465G>A c.1707G>A (p.Arg569=) c.2088G>A (p.Arg696=) c.1677G>A (p.Arg559=) c.1830G>A (p.Arg610=) n.2221G>A n.2545G>A n.2188G>A | ClinVar dbSNP |
19 | g.11123244G>C | CA404095058 | LDLR | c.2469G>C (p.Arg823Ser) c.*280G>C (n.*280G>C) c.2091G>C (p.Arg697Ser) c.2211G>C (p.Arg737Ser) c.2465G>C c.1707G>C (p.Arg569Ser) c.2088G>C (p.Arg696Ser) c.1677G>C (p.Arg559Ser) c.1830G>C (p.Arg610Ser) n.2221G>C n.2545G>C n.2188G>C | |
19 | g.11123244G= | CA2322777209 | LDLR | c.2469G= (p.Arg823=) c.*280G= (n.*280G=) c.2091G= (p.Arg697=) c.2211G= (p.Arg737=) c.2465G= c.1707G= (p.Arg569=) c.2088G= (p.Arg696=) c.1677G= (p.Arg559=) c.1830G= (p.Arg610=) n.2221G= n.2545G= n.2188G= | |
19 | g.11123244G>T | CA404095060 | LDLR | c.2469G>T (p.Arg823Ser) c.*280G>T (n.*280G>T) c.2091G>T (p.Arg697Ser) c.2211G>T (p.Arg737Ser) c.2465G>T c.1707G>T (p.Arg569Ser) c.2088G>T (p.Arg696Ser) c.1677G>T (p.Arg559Ser) c.1830G>T (p.Arg610Ser) n.2221G>T n.2545G>T n.2188G>T | |
19 | g.11123245A>C | CA404095064 | LDLR | c.2470A>C (p.Thr824Pro) c.*281A>C (n.*281A>C) c.2092A>C (p.Thr698Pro) c.2212A>C (p.Thr738Pro) c.2466A>C c.1708A>C (p.Thr570Pro) c.2089A>C (p.Thr697Pro) c.1678A>C (p.Thr560Pro) c.1831A>C (p.Thr611Pro) n.2222A>C n.2546A>C n.2189A>C | |
19 | g.11123245A>G | CA404095068 | LDLR | c.2470A>G (p.Thr824Ala) c.*281A>G (n.*281A>G) c.2092A>G (p.Thr698Ala) c.2212A>G (p.Thr738Ala) c.2466A>G c.1708A>G (p.Thr570Ala) c.2089A>G (p.Thr697Ala) c.1678A>G (p.Thr560Ala) c.1831A>G (p.Thr611Ala) n.2222A>G n.2546A>G n.2189A>G | |
19 | g.11123245A>T | CA404095066 | LDLR | c.2470A>T (p.Thr824Ser) c.*281A>T (n.*281A>T) c.2092A>T (p.Thr698Ser) c.2212A>T (p.Thr738Ser) c.2466A>T c.1708A>T (p.Thr570Ser) c.2089A>T (p.Thr697Ser) c.1678A>T (p.Thr560Ser) c.1831A>T (p.Thr611Ser) n.2222A>T n.2546A>T n.2189A>T | gnomAD v4 |
19 | g.11123246C>A | CA404095070 | LDLR | c.2471C>A (p.Thr824Lys) c.*282C>A (n.*282C>A) c.2093C>A (p.Thr698Lys) c.2213C>A (p.Thr738Lys) c.2467C>A c.1709C>A (p.Thr570Lys) c.2090C>A (p.Thr697Lys) c.1679C>A (p.Thr560Lys) c.1832C>A (p.Thr611Lys) n.2223C>A n.2547C>A n.2190C>A | |
19 | g.11123246C= | CA2322777210 | LDLR | c.2471C= (p.Thr824=) c.*282C= (n.*282C=) c.2093C= (p.Thr698=) c.2213C= (p.Thr738=) c.2467C= c.1709C= (p.Thr570=) c.2090C= (p.Thr697=) c.1679C= (p.Thr560=) c.1832C= (p.Thr611=) n.2223C= n.2547C= n.2190C= | |
19 | g.11123246C>G | CA404095072 | LDLR | c.2471C>G (p.Thr824Arg) c.*282C>G (n.*282C>G) c.2093C>G (p.Thr698Arg) c.2213C>G (p.Thr738Arg) c.2467C>G c.1709C>G (p.Thr570Arg) c.2090C>G (p.Thr697Arg) c.1679C>G (p.Thr560Arg) c.1832C>G (p.Thr611Arg) n.2223C>G n.2547C>G n.2190C>G | |
19 | g.11123246C>T | CA404095075 | LDLR | c.2471C>T (p.Thr824Ile) c.*282C>T (n.*282C>T) c.2093C>T (p.Thr698Ile) c.2213C>T (p.Thr738Ile) c.2467C>T c.1709C>T (p.Thr570Ile) c.2090C>T (p.Thr697Ile) c.1679C>T (p.Thr560Ile) c.1832C>T (p.Thr611Ile) n.2223C>T n.2547C>T n.2190C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123247del | CA1139768693 | LDLR | c.2472del (p.Gln825SerfsTer26) c.*283del (n.*283del) c.2094del (p.Gln699SerfsTer26) c.2214del (p.Gln739SerfsTer26) c.2468del c.1710del (p.Gln571SerfsTer26) c.2091del (p.Gln698SerfsTer26) c.1680del (p.Gln561SerfsTer26) c.1833del (p.Gln612SerfsTer26) n.2224del n.2548del n.2191del | |
19 | g.11123247A= | CA2322777211 | LDLR | c.2472A= (p.Thr824=) c.*283A= (n.*283A=) c.2094A= (p.Thr698=) c.2214A= (p.Thr738=) c.2468A= c.1710A= (p.Thr570=) c.2091A= (p.Thr697=) c.1680A= (p.Thr560=) c.1833A= (p.Thr611=) n.2224A= n.2548A= n.2191A= | |
19 | g.11123247A>C | CA505486937 | LDLR | c.2472A>C (p.Thr824=) c.*283A>C (n.*283A>C) c.2094A>C (p.Thr698=) c.2214A>C (p.Thr738=) c.2468A>C c.1710A>C (p.Thr570=) c.2091A>C (p.Thr697=) c.1680A>C (p.Thr560=) c.1833A>C (p.Thr611=) n.2224A>C n.2548A>C n.2191A>C | dbSNP gnomAD v4 |
19 | g.11123247A>G | CA505486938 | LDLR | c.2472A>G (p.Thr824=) c.*283A>G (n.*283A>G) c.2094A>G (p.Thr698=) c.2214A>G (p.Thr738=) c.2468A>G c.1710A>G (p.Thr570=) c.2091A>G (p.Thr697=) c.1680A>G (p.Thr560=) c.1833A>G (p.Thr611=) n.2224A>G n.2548A>G n.2191A>G | |
19 | g.11123247A>T | CA505486940 | LDLR | c.2472A>T (p.Thr824=) c.*283A>T (n.*283A>T) c.2094A>T (p.Thr698=) c.2214A>T (p.Thr738=) c.2468A>T c.1710A>T (p.Thr570=) c.2091A>T (p.Thr697=) c.1680A>T (p.Thr560=) c.1833A>T (p.Thr611=) n.2224A>T n.2548A>T n.2191A>T | |
19 | g.11123248C>A | CA039143 | LDLR | c.2473C>A (p.Gln825Lys) c.*284C>A (n.*284C>A) c.2095C>A (p.Gln699Lys) c.2215C>A (p.Gln739Lys) c.2469C>A c.1711C>A (p.Gln571Lys) c.2092C>A (p.Gln698Lys) c.1681C>A (p.Gln561Lys) c.1834C>A (p.Gln612Lys) n.2225C>A n.2549C>A n.2192C>A | dbSNP ExAC gnomAD v2 |
19 | g.11123248C= | CA2322777212 | LDLR | c.2473C= (p.Gln825=) c.*284C= (n.*284C=) c.2095C= (p.Gln699=) c.2215C= (p.Gln739=) c.2469C= c.1711C= (p.Gln571=) c.2092C= (p.Gln698=) c.1681C= (p.Gln561=) c.1834C= (p.Gln612=) n.2225C= n.2549C= n.2192C= | |
19 | g.11123248C>G | CA404095080 | LDLR | c.2473C>G (p.Gln825Glu) c.*284C>G (n.*284C>G) c.2095C>G (p.Gln699Glu) c.2215C>G (p.Gln739Glu) c.2469C>G c.1711C>G (p.Gln571Glu) c.2092C>G (p.Gln698Glu) c.1681C>G (p.Gln561Glu) c.1834C>G (p.Gln612Glu) n.2225C>G n.2549C>G n.2192C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123248C>T | CA10585809 | LDLR | c.2473C>T (p.Gln825Ter) c.*284C>T (n.*284C>T) c.2095C>T (p.Gln699Ter) c.2215C>T (p.Gln739Ter) c.2469C>T c.1711C>T (p.Gln571Ter) c.2092C>T (p.Gln698Ter) c.1681C>T (p.Gln561Ter) c.1834C>T (p.Gln612Ter) n.2225C>T n.2549C>T n.2192C>T | ClinVar dbSNP |
19 | g.11123249A>C | CA404095092 | LDLR | c.2474A>C (p.Gln825Pro) c.*285A>C (n.*285A>C) c.2096A>C (p.Gln699Pro) c.2216A>C (p.Gln739Pro) c.2470A>C c.1712A>C (p.Gln571Pro) c.2093A>C (p.Gln698Pro) c.1682A>C (p.Gln561Pro) c.1835A>C (p.Gln612Pro) n.2226A>C n.2550A>C n.2193A>C | |
19 | g.11123249A>G | CA404095087 | LDLR | c.2474A>G (p.Gln825Arg) c.*285A>G (n.*285A>G) c.2096A>G (p.Gln699Arg) c.2216A>G (p.Gln739Arg) c.2470A>G c.1712A>G (p.Gln571Arg) c.2093A>G (p.Gln698Arg) c.1682A>G (p.Gln561Arg) c.1835A>G (p.Gln612Arg) n.2226A>G n.2550A>G n.2193A>G | |
19 | g.11123249A>T | CA404095088 | LDLR | c.2474A>T (p.Gln825Leu) c.*285A>T (n.*285A>T) c.2096A>T (p.Gln699Leu) c.2216A>T (p.Gln739Leu) c.2470A>T c.1712A>T (p.Gln571Leu) c.2093A>T (p.Gln698Leu) c.1682A>T (p.Gln561Leu) c.1835A>T (p.Gln612Leu) n.2226A>T n.2550A>T n.2193A>T | |
19 | g.11123250G>A | CA505486945 | LDLR | c.2475G>A (p.Gln825=) c.*286G>A (n.*286G>A) c.2097G>A (p.Gln699=) c.2217G>A (p.Gln739=) c.2471G>A c.1713G>A (p.Gln571=) c.2094G>A (p.Gln698=) c.1683G>A (p.Gln561=) c.1836G>A (p.Gln612=) n.2227G>A n.2551G>A n.2194G>A | gnomAD v4 |
19 | g.11123250G>C | CA404095095 | LDLR | c.2475G>C (p.Gln825His) c.*286G>C (n.*286G>C) c.2097G>C (p.Gln699His) c.2217G>C (p.Gln739His) c.2471G>C c.1713G>C (p.Gln571His) c.2094G>C (p.Gln698His) c.1683G>C (p.Gln561His) c.1836G>C (p.Gln612His) n.2227G>C n.2551G>C n.2194G>C | |
19 | g.11123250G>T | CA404095103 | LDLR | c.2475G>T (p.Gln825His) c.*286G>T (n.*286G>T) c.2097G>T (p.Gln699His) c.2217G>T (p.Gln739His) c.2471G>T c.1713G>T (p.Gln571His) c.2094G>T (p.Gln698His) c.1683G>T (p.Gln561His) c.1836G>T (p.Gln612His) n.2227G>T n.2551G>T n.2194G>T | |
19 | g.11123251C>A | CA404095107 | LDLR | c.2476C>A (p.His826Asn) c.*287C>A (n.*287C>A) c.2098C>A (p.His700Asn) c.2218C>A (p.His740Asn) c.2472C>A c.1714C>A (p.His572Asn) c.2095C>A (p.His699Asn) c.1684C>A (p.His562Asn) c.1837C>A (p.His613Asn) n.2228C>A n.2552C>A n.2195C>A | |
19 | g.11123251C>G | CA404095109 | LDLR | c.2476C>G (p.His826Asp) c.*287C>G (n.*287C>G) c.2098C>G (p.His700Asp) c.2218C>G (p.His740Asp) c.2472C>G c.1714C>G (p.His572Asp) c.2095C>G (p.His699Asp) c.1684C>G (p.His562Asp) c.1837C>G (p.His613Asp) n.2228C>G n.2552C>G n.2195C>G | |
19 | g.11123251C>T | CA404095112 | LDLR | c.2476C>T (p.His826Tyr) c.*287C>T (n.*287C>T) c.2098C>T (p.His700Tyr) c.2218C>T (p.His740Tyr) c.2472C>T c.1714C>T (p.His572Tyr) c.2095C>T (p.His699Tyr) c.1684C>T (p.His562Tyr) c.1837C>T (p.His613Tyr) n.2228C>T n.2552C>T n.2195C>T | |
19 | g.11123252A>C | CA404095123 | LDLR | c.2477A>C (p.His826Pro) c.*288A>C (n.*288A>C) c.2099A>C (p.His700Pro) c.2219A>C (p.His740Pro) c.2473A>C c.1715A>C (p.His572Pro) c.2096A>C (p.His699Pro) c.1685A>C (p.His562Pro) c.1838A>C (p.His613Pro) n.2229A>C n.2553A>C n.2196A>C | |
19 | g.11123252A>G | CA404095117 | LDLR | c.2477A>G (p.His826Arg) c.*288A>G (n.*288A>G) c.2099A>G (p.His700Arg) c.2219A>G (p.His740Arg) c.2473A>G c.1715A>G (p.His572Arg) c.2096A>G (p.His699Arg) c.1685A>G (p.His562Arg) c.1838A>G (p.His613Arg) n.2229A>G n.2553A>G n.2196A>G | |
19 | g.11123252A>T | CA404095120 | LDLR | c.2477A>T (p.His826Leu) c.*288A>T (n.*288A>T) c.2099A>T (p.His700Leu) c.2219A>T (p.His740Leu) c.2473A>T c.1715A>T (p.His572Leu) c.2096A>T (p.His699Leu) c.1685A>T (p.His562Leu) c.1838A>T (p.His613Leu) n.2229A>T n.2553A>T n.2196A>T | |
19 | g.11123253C>A | CA404095125 | LDLR | c.2478C>A (p.His826Gln) c.*289C>A (n.*289C>A) c.2100C>A (p.His700Gln) c.2220C>A (p.His740Gln) c.2474C>A c.1716C>A (p.His572Gln) c.2097C>A (p.His699Gln) c.1686C>A (p.His562Gln) c.1839C>A (p.His613Gln) n.2230C>A n.2554C>A n.2197C>A | gnomAD v4 |
19 | g.11123253C= | CA2322777213 | LDLR | c.2478C= (p.His826=) c.*289C= (n.*289C=) c.2100C= (p.His700=) c.2220C= (p.His740=) c.2474C= c.1716C= (p.His572=) c.2097C= (p.His699=) c.1686C= (p.His562=) c.1839C= (p.His613=) n.2230C= n.2554C= n.2197C= | |
19 | g.11123253C>G | CA404095128 | LDLR | c.2478C>G (p.His826Gln) c.*289C>G (n.*289C>G) c.2100C>G (p.His700Gln) c.2220C>G (p.His740Gln) c.2474C>G c.1716C>G (p.His572Gln) c.2097C>G (p.His699Gln) c.1686C>G (p.His562Gln) c.1839C>G (p.His613Gln) n.2230C>G n.2554C>G n.2197C>G | |
19 | g.11123253C>T | CA039155 | LDLR | c.2478C>T (p.His826=) c.*289C>T (n.*289C>T) c.2100C>T (p.His700=) c.2220C>T (p.His740=) c.2474C>T c.1716C>T (p.His572=) c.2097C>T (p.His699=) c.1686C>T (p.His562=) c.1839C>T (p.His613=) n.2230C>T n.2554C>T n.2197C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123254A>C | CA404095136 | LDLR | c.2479A>C (p.Thr827Pro) c.*290A>C (n.*290A>C) c.2101A>C (p.Thr701Pro) c.2221A>C (p.Thr741Pro) c.2475A>C c.1717A>C (p.Thr573Pro) c.2098A>C (p.Thr700Pro) c.1687A>C (p.Thr563Pro) c.1840A>C (p.Thr614Pro) n.2231A>C n.2555A>C n.2198A>C | |
19 | g.11123254A>G | CA404095138 | LDLR | c.2479A>G (p.Thr827Ala) c.*290A>G (n.*290A>G) c.2101A>G (p.Thr701Ala) c.2221A>G (p.Thr741Ala) c.2475A>G c.1717A>G (p.Thr573Ala) c.2098A>G (p.Thr700Ala) c.1687A>G (p.Thr563Ala) c.1840A>G (p.Thr614Ala) n.2231A>G n.2555A>G n.2198A>G | |
19 | g.11123254A>T | CA404095141 | LDLR | c.2479A>T (p.Thr827Ser) c.*290A>T (n.*290A>T) c.2101A>T (p.Thr701Ser) c.2221A>T (p.Thr741Ser) c.2475A>T c.1717A>T (p.Thr573Ser) c.2098A>T (p.Thr700Ser) c.1687A>T (p.Thr563Ser) c.1840A>T (p.Thr614Ser) n.2231A>T n.2555A>T n.2198A>T | |
19 | g.11123255C>A | CA404095143 | LDLR | c.2480C>A (p.Thr827Lys) c.*291C>A (n.*291C>A) c.2102C>A (p.Thr701Lys) c.2222C>A (p.Thr741Lys) c.2476C>A c.1718C>A (p.Thr573Lys) c.2099C>A (p.Thr700Lys) c.1688C>A (p.Thr563Lys) c.1841C>A (p.Thr614Lys) n.2232C>A n.2556C>A n.2199C>A | |
19 | g.11123255C>G | CA404095146 | LDLR | c.2480C>G (p.Thr827Arg) c.*291C>G (n.*291C>G) c.2102C>G (p.Thr701Arg) c.2222C>G (p.Thr741Arg) c.2476C>G c.1718C>G (p.Thr573Arg) c.2099C>G (p.Thr700Arg) c.1688C>G (p.Thr563Arg) c.1841C>G (p.Thr614Arg) n.2232C>G n.2556C>G n.2199C>G | |
19 | g.11123255C>T | CA404095149 | LDLR | c.2480C>T (p.Thr827Ile) c.*291C>T (n.*291C>T) c.2102C>T (p.Thr701Ile) c.2222C>T (p.Thr741Ile) c.2476C>T c.1718C>T (p.Thr573Ile) c.2099C>T (p.Thr700Ile) c.1688C>T (p.Thr563Ile) c.1841C>T (p.Thr614Ile) n.2232C>T n.2556C>T n.2199C>T | |
19 | g.11123256A>C | CA505486948 | LDLR | c.2481A>C (p.Thr827=) c.*292A>C (n.*292A>C) c.2103A>C (p.Thr701=) c.2223A>C (p.Thr741=) c.2477A>C c.1719A>C (p.Thr573=) c.2100A>C (p.Thr700=) c.1689A>C (p.Thr563=) c.1842A>C (p.Thr614=) n.2233A>C n.2557A>C n.2200A>C | |
19 | g.11123256A>G | CA505486949 | LDLR | c.2481A>G (p.Thr827=) c.*292A>G (n.*292A>G) c.2103A>G (p.Thr701=) c.2223A>G (p.Thr741=) c.2477A>G c.1719A>G (p.Thr573=) c.2100A>G (p.Thr700=) c.1689A>G (p.Thr563=) c.1842A>G (p.Thr614=) n.2233A>G n.2557A>G n.2200A>G | |
19 | g.11123256A>T | CA505486950 | LDLR | c.2481A>T (p.Thr827=) c.*292A>T (n.*292A>T) c.2103A>T (p.Thr701=) c.2223A>T (p.Thr741=) c.2477A>T c.1719A>T (p.Thr573=) c.2100A>T (p.Thr700=) c.1689A>T (p.Thr563=) c.1842A>T (p.Thr614=) n.2233A>T n.2557A>T n.2200A>T | COSMIC |
19 | g.11123257A= | CA2322777214 | LDLR | c.2482A= (p.Thr828=) c.*293A= (n.*293A=) c.2104A= (p.Thr702=) c.2224A= (p.Thr742=) c.2478A= c.1720A= (p.Thr574=) c.2101A= (p.Thr701=) c.1690A= (p.Thr564=) c.1843A= (p.Thr615=) n.2234A= n.2558A= n.2201A= | |
19 | g.11123257A>C | CA404095152 | LDLR | c.2482A>C (p.Thr828Pro) c.*293A>C (n.*293A>C) c.2104A>C (p.Thr702Pro) c.2224A>C (p.Thr742Pro) c.2478A>C c.1720A>C (p.Thr574Pro) c.2101A>C (p.Thr701Pro) c.1690A>C (p.Thr564Pro) c.1843A>C (p.Thr615Pro) n.2234A>C n.2558A>C n.2201A>C | |
19 | g.11123257A>G | CA404095155 | LDLR | c.2482A>G (p.Thr828Ala) c.*293A>G (n.*293A>G) c.2104A>G (p.Thr702Ala) c.2224A>G (p.Thr742Ala) c.2478A>G c.1720A>G (p.Thr574Ala) c.2101A>G (p.Thr701Ala) c.1690A>G (p.Thr564Ala) c.1843A>G (p.Thr615Ala) n.2234A>G n.2558A>G n.2201A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11123257A>T | CA404095156 | LDLR | c.2482A>T (p.Thr828Ser) c.*293A>T (n.*293A>T) c.2104A>T (p.Thr702Ser) c.2224A>T (p.Thr742Ser) c.2478A>T c.1720A>T (p.Thr574Ser) c.2101A>T (p.Thr701Ser) c.1690A>T (p.Thr564Ser) c.1843A>T (p.Thr615Ser) n.2234A>T n.2558A>T n.2201A>T | |
19 | g.11123257_11123258delinsAC | CA2322777215 | LDLR | c.2482_2483delinsAC (p.Thr828=) c.*293_*294delinsAC (n.*293_*294delinsAC) c.2104_2105delinsAC (p.Thr702=) c.2224_2225delinsAC (p.Thr742=) c.2478_2479delinsAC c.1720_1721delinsAC (p.Thr574=) c.2101_2102delinsAC (p.Thr701=) c.1690_1691delinsAC (p.Thr564=) c.1843_1844delinsAC (p.Thr615=) n.2234_2235delinsAC n.2558_2559delinsAC n.2201_2202delinsAC | |
19 | g.11123258C>A | CA404095168 | LDLR | c.2483C>A (p.Thr828Asn) c.*294C>A (n.*294C>A) c.2105C>A (p.Thr702Asn) c.2225C>A (p.Thr742Asn) c.2479C>A c.1721C>A (p.Thr574Asn) c.2102C>A (p.Thr701Asn) c.1691C>A (p.Thr564Asn) c.1844C>A (p.Thr615Asn) n.2235C>A n.2559C>A n.2202C>A | |
19 | g.11123258C= | CA2322777216 | LDLR | c.2483C= (p.Thr828=) c.*294C= (n.*294C=) c.2105C= (p.Thr702=) c.2225C= (p.Thr742=) c.2479C= c.1721C= (p.Thr574=) c.2102C= (p.Thr701=) c.1691C= (p.Thr564=) c.1844C= (p.Thr615=) n.2235C= n.2559C= n.2202C= | |
19 | g.11123258C>G | CA404095165 | LDLR | c.2483C>G (p.Thr828Ser) c.*294C>G (n.*294C>G) c.2105C>G (p.Thr702Ser) c.2225C>G (p.Thr742Ser) c.2479C>G c.1721C>G (p.Thr574Ser) c.2102C>G (p.Thr701Ser) c.1691C>G (p.Thr564Ser) c.1844C>G (p.Thr615Ser) n.2235C>G n.2559C>G n.2202C>G | |
19 | g.11123258C>T | CA039172 | LDLR | c.2483C>T (p.Thr828Ile) c.*294C>T (n.*294C>T) c.2105C>T (p.Thr702Ile) c.2225C>T (p.Thr742Ile) c.2479C>T c.1721C>T (p.Thr574Ile) c.2102C>T (p.Thr701Ile) c.1691C>T (p.Thr564Ile) c.1844C>T (p.Thr615Ile) n.2235C>T n.2559C>T n.2202C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123259del | CA10585810 | LDLR | c.2484del (p.Thr829ProfsTer22) c.*295del (n.*295del) c.2106del (p.Thr703ProfsTer22) c.2226del (p.Thr743ProfsTer22) c.2480del c.1722del (p.Thr575ProfsTer22) c.2103del (p.Thr702ProfsTer22) c.1692del (p.Thr565ProfsTer22) c.1845del (p.Thr616ProfsTer22) n.2236del n.2560del n.2203del | ClinVar dbSNP |
19 | g.11123259C>A | CA505486954 | LDLR | c.2484C>A (p.Thr828=) c.*295C>A (n.*295C>A) c.2106C>A (p.Thr702=) c.2226C>A (p.Thr742=) c.2480C>A c.1722C>A (p.Thr574=) c.2103C>A (p.Thr701=) c.1692C>A (p.Thr564=) c.1845C>A (p.Thr615=) n.2236C>A n.2560C>A n.2203C>A | gnomAD v4 |
19 | g.11123259C>G | CA505486955 | LDLR | c.2484C>G (p.Thr828=) c.*295C>G (n.*295C>G) c.2106C>G (p.Thr702=) c.2226C>G (p.Thr742=) c.2480C>G c.1722C>G (p.Thr574=) c.2103C>G (p.Thr701=) c.1692C>G (p.Thr564=) c.1845C>G (p.Thr615=) n.2236C>G n.2560C>G n.2203C>G | |
19 | g.11123259C>T | CA505486957 | LDLR | c.2484C>T (p.Thr828=) c.*295C>T (n.*295C>T) c.2106C>T (p.Thr702=) c.2226C>T (p.Thr742=) c.2480C>T c.1722C>T (p.Thr574=) c.2103C>T (p.Thr701=) c.1692C>T (p.Thr564=) c.1845C>T (p.Thr615=) n.2236C>T n.2560C>T n.2203C>T | |
19 | g.11123260A= | CA2322777218 | LDLR | c.2485A= (p.Thr829=) c.*296A= (n.*296A=) c.2107A= (p.Thr703=) c.2227A= (p.Thr743=) c.2481A= c.1723A= (p.Thr575=) c.2104A= (p.Thr702=) c.1693A= (p.Thr565=) c.1846A= (p.Thr616=) n.2237A= n.2561A= n.2204A= | |
19 | g.11123260A>C | CA404095170 | LDLR | c.2485A>C (p.Thr829Pro) c.*296A>C (n.*296A>C) c.2107A>C (p.Thr703Pro) c.2227A>C (p.Thr743Pro) c.2481A>C c.1723A>C (p.Thr575Pro) c.2104A>C (p.Thr702Pro) c.1693A>C (p.Thr565Pro) c.1846A>C (p.Thr616Pro) n.2237A>C n.2561A>C n.2204A>C | |
19 | g.11123260A>G | CA404095172 | LDLR | c.2485A>G (p.Thr829Ala) c.*296A>G (n.*296A>G) c.2107A>G (p.Thr703Ala) c.2227A>G (p.Thr743Ala) c.2481A>G c.1723A>G (p.Thr575Ala) c.2104A>G (p.Thr702Ala) c.1693A>G (p.Thr565Ala) c.1846A>G (p.Thr616Ala) n.2237A>G n.2561A>G n.2204A>G | ClinVar dbSNP |
19 | g.11123260A>T | CA404095173 | LDLR | c.2485A>T (p.Thr829Ser) c.*296A>T (n.*296A>T) c.2107A>T (p.Thr703Ser) c.2227A>T (p.Thr743Ser) c.2481A>T c.1723A>T (p.Thr575Ser) c.2104A>T (p.Thr702Ser) c.1693A>T (p.Thr565Ser) c.1846A>T (p.Thr616Ser) n.2237A>T n.2561A>T n.2204A>T | |
19 | g.11123260_11123261delinsAC | CA2322777217 | LDLR | c.2485_2486delinsAC (p.Thr829=) c.*296_*297delinsAC (n.*296_*297delinsAC) c.2107_2108delinsAC (p.Thr703=) c.2227_2228delinsAC (p.Thr743=) c.2481_2482delinsAC c.1723_1724delinsAC (p.Thr575=) c.2104_2105delinsAC (p.Thr702=) c.1693_1694delinsAC (p.Thr565=) c.1846_1847delinsAC (p.Thr616=) n.2237_2238delinsAC n.2561_2562delinsAC n.2204_2205delinsAC |