UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120093_11123345del | CA2695202625 | LDLR | c.2105_2569+1del c.1707_*380+1del c.1727_2191+1del c.1847_2311+1del c.2101_2565+1del c.1343_1807+1del c.1724_2188+1del c.1466_1777+1del c.1466_1930+1del n.1857_2321+1del n.1964_2645+1del n.1824_2288+1del | |
| 19 | g.11120091_11123345del | CA658824575 | LDLR | c.2104-1_2569+1del c.1706-1_*380+1del c.1726-1_2191+1del c.1846-1_2311+1del c.2100-1_2565+1del c.1342-1_1807+1del c.1723-1_2188+1del c.1465-1_1777+1del c.1465-1_1930+1del n.1856-1_2321+1del n.1963-1_2645+1del n.1823-1_2288+1del | ClinVar |
| 19 | g.11120137_11124406del | CA250475 | LDLR | c.2149_2569+1062del c.1751_*380+1062del c.1771_2191+1062del c.1891_2311+1062del c.2145_2565+1062del c.1387_1807+1062del c.1768_2188+1062del c.1510_1777+1062del c.1510_1930+1062del n.1901_2321+1062del n.2008_2645+1062del n.1868_2288+1062del | ClinVar |
| 19 | g.11120137_11124409del | CA916081229 | LDLR | c.2149_2569+1065del c.1751_*380+1065del c.1771_2191+1065del c.1891_2311+1065del c.2145_2565+1065del c.1387_1807+1065del c.1768_2188+1065del c.1510_1777+1065del c.1510_1930+1065del n.1901_2321+1065del n.2008_2645+1065del n.1868_2288+1065del | ClinVar |
| 19 | g.11120137_11124409delinsCTCAGCACTTTGGG | CA2573050615 | LDLR | c.2149_2569+1065delinsCTCAGCACTTTGGG c.1751_*380+1065delinsCTCAGCACTTTGGG c.1771_2191+1065delinsCTCAGCACTTTGGG c.1891_2311+1065delinsCTCAGCACTTTGGG c.2145_2565+1065delinsCTCAGCACTTTGGG c.1387_1807+1065delinsCTCAGCACTTTGGG c.1768_2188+1065delinsCTCAGCACTTTGGG c.1510_1777+1065delinsCTCAGCACTTTGGG c.1510_1930+1065delinsCTCAGCACTTTGGG n.1901_2321+1065delinsCTCAGCACTTTGGG n.2008_2645+1065delinsCTCAGCACTTTGGG n.1868_2288+1065delinsCTCAGCACTTTGGG | |
| 19 | g.11122220_11129195del | CA2573320454 | LDLR | c.2399-954_2648-318del c.*210-954_*459-318del c.2021-954_2270-318del c.2141-954_2390-318del c.2395-954_2644-318del c.1637-954_1886-318del c.2018-954_2267-318del c.1607-954_1856-318del c.2141-954_2390-256del c.2141-954_2312-318del c.1760-954_2009-318del n.2151-954_2400-318del n.2475-954_2724-318del n.2118-954_2367-318del | |
| 19 | g.11123171_11123342delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA | CA2322777160 | LDLR | c.2399-3_2567delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.*210-3_*378delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2021-3_2189delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2141-3_2309delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2395-3_2563delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1637-3_1805delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2018-3_2186delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1607-3_1775delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1760-3_1928delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2151-3_2319delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2475-3_2643delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2118-3_2286delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA | |
| 19 | g.11123174_11123344del | CA645509293 | LDLR | c.2399_2569del c.*210_*380del c.2021_2191del c.2141_2311del c.2395_2565del c.1637_1807del c.2018_2188del c.1607_1777del c.1760_1930del n.2151_2321del n.2475_2645del n.2118_2288del | ClinVar dbSNP |
| 19 | g.11123265_11123323del | CA2573156041 | LDLR | c.2490_2548del (p.Pro831SerfsTer17) c.*301_*359del (n.*301_*359del) c.2112_2170del (p.Pro705SerfsTer17) c.2232_2290del (p.Pro745SerfsTer17) c.2486_2544del c.1728_1786del (p.Pro577SerfsTer17) c.2109_2167del (p.Pro704SerfsTer17) c.1698_1756del (p.Pro567SerfsTer17) c.2232_2290del (p.Pro745SerfsTer26) c.1851_1909del (p.Pro618SerfsTer17) n.2242_2300del n.2566_2624del n.2209_2267del | ClinVar dbSNP |
| 19 | g.11123265_11123324delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT | CA2322777225 | LDLR | c.2490_2549delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg830=) c.*301_*360delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (n.*301_*360delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT) c.2112_2171delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg704=) c.2232_2291delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg744=) c.2486_2545delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT c.1728_1787delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg576=) c.2109_2168delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg703=) c.1698_1757delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg566=) c.1851_1910delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg617=) n.2242_2301delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT n.2566_2625delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT n.2209_2268delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT | |
| 19 | g.11123266_11123324del | CA658799127 | LDLR | c.2491_2549del (p.Pro831SerfsTer17) c.*302_*360del (n.*302_*360del) c.2113_2171del (p.Pro705SerfsTer17) c.2233_2291del (p.Pro745SerfsTer17) c.2487_2545del c.1729_1787del (p.Pro577SerfsTer17) c.2110_2168del (p.Pro704SerfsTer17) c.1699_1757del (p.Pro567SerfsTer17) c.2233_2291del (p.Pro745SerfsTer26) c.1852_1910del (p.Pro618SerfsTer17) n.2243_2301del n.2567_2625del n.2210_2268del | ClinVar dbSNP |
| 19 | g.11123269G>A | CA404095217 | LDLR | c.2494G>A (p.Val832Ile) c.*305G>A (n.*305G>A) c.2116G>A (p.Val706Ile) c.2236G>A (p.Val746Ile) c.2490G>A c.1732G>A (p.Val578Ile) c.2113G>A (p.Val705Ile) c.1702G>A (p.Val568Ile) c.1855G>A (p.Val619Ile) n.2246G>A n.2570G>A n.2213G>A | |
| 19 | g.11123269G>C | CA404095218 | LDLR | c.2494G>C (p.Val832Leu) c.*305G>C (n.*305G>C) c.2116G>C (p.Val706Leu) c.2236G>C (p.Val746Leu) c.2490G>C c.1732G>C (p.Val578Leu) c.2113G>C (p.Val705Leu) c.1702G>C (p.Val568Leu) c.1855G>C (p.Val619Leu) n.2246G>C n.2570G>C n.2213G>C | |
| 19 | g.11123269G>T | CA404095219 | LDLR | c.2494G>T (p.Val832Phe) c.*305G>T (n.*305G>T) c.2116G>T (p.Val706Phe) c.2236G>T (p.Val746Phe) c.2490G>T c.1732G>T (p.Val578Phe) c.2113G>T (p.Val705Phe) c.1702G>T (p.Val568Phe) c.1855G>T (p.Val619Phe) n.2246G>T n.2570G>T n.2213G>T | |
| 19 | g.11123270T>A | CA404095221 | LDLR | c.2495T>A (p.Val832Asp) c.*306T>A (n.*306T>A) c.2117T>A (p.Val706Asp) c.2237T>A (p.Val746Asp) c.2491T>A c.1733T>A (p.Val578Asp) c.2114T>A (p.Val705Asp) c.1703T>A (p.Val568Asp) c.1856T>A (p.Val619Asp) n.2247T>A n.2571T>A n.2214T>A | |
| 19 | g.11123270T>C | CA404095223 | LDLR | c.2495T>C (p.Val832Ala) c.*306T>C (n.*306T>C) c.2117T>C (p.Val706Ala) c.2237T>C (p.Val746Ala) c.2491T>C c.1733T>C (p.Val578Ala) c.2114T>C (p.Val705Ala) c.1703T>C (p.Val568Ala) c.1856T>C (p.Val619Ala) n.2247T>C n.2571T>C n.2214T>C | |
| 19 | g.11123270T>G | CA404095226 | LDLR | c.2495T>G (p.Val832Gly) c.*306T>G (n.*306T>G) c.2117T>G (p.Val706Gly) c.2237T>G (p.Val746Gly) c.2491T>G c.1733T>G (p.Val578Gly) c.2114T>G (p.Val705Gly) c.1703T>G (p.Val568Gly) c.1856T>G (p.Val619Gly) n.2247T>G n.2571T>G n.2214T>G | |
| 19 | g.11123271del | CA2497030104 | LDLR | c.2496del (p.Asp834ThrfsTer17) c.*307del (n.*307del) c.2118del (p.Asp708ThrfsTer17) c.2238del (p.Asp748ThrfsTer17) c.2492del c.1734del (p.Asp580ThrfsTer17) c.2115del (p.Asp707ThrfsTer17) c.1704del (p.Asp570ThrfsTer17) c.1857del (p.Asp621ThrfsTer17) n.2248del n.2572del n.2215del | |
| 19 | g.11123271T>A | CA505486979 | LDLR | c.2496T>A (p.Val832=) c.*307T>A (n.*307T>A) c.2118T>A (p.Val706=) c.2238T>A (p.Val746=) c.2492T>A c.1734T>A (p.Val578=) c.2115T>A (p.Val705=) c.1704T>A (p.Val568=) c.1857T>A (p.Val619=) n.2248T>A n.2572T>A n.2215T>A | |
| 19 | g.11123271T>C | CA505486980 | LDLR | c.2496T>C (p.Val832=) c.*307T>C (n.*307T>C) c.2118T>C (p.Val706=) c.2238T>C (p.Val746=) c.2492T>C c.1734T>C (p.Val578=) c.2115T>C (p.Val705=) c.1704T>C (p.Val568=) c.1857T>C (p.Val619=) n.2248T>C n.2572T>C n.2215T>C | |
| 19 | g.11123271T>G | CA505486981 | LDLR | c.2496T>G (p.Val832=) c.*307T>G (n.*307T>G) c.2118T>G (p.Val706=) c.2238T>G (p.Val746=) c.2492T>G c.1734T>G (p.Val578=) c.2115T>G (p.Val705=) c.1704T>G (p.Val568=) c.1857T>G (p.Val619=) n.2248T>G n.2572T>G n.2215T>G | |
| 19 | g.11123272C>A | CA404095231 | LDLR | c.2497C>A (p.Pro833Thr) c.*308C>A (n.*308C>A) c.2119C>A (p.Pro707Thr) c.2239C>A (p.Pro747Thr) c.2493C>A c.1735C>A (p.Pro579Thr) c.2116C>A (p.Pro706Thr) c.1705C>A (p.Pro569Thr) c.1858C>A (p.Pro620Thr) n.2249C>A n.2573C>A n.2216C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11123272C= | CA2322777227 | LDLR | c.2497C= (p.Pro833=) c.*308C= (n.*308C=) c.2119C= (p.Pro707=) c.2239C= (p.Pro747=) c.2493C= c.1735C= (p.Pro579=) c.2116C= (p.Pro706=) c.1705C= (p.Pro569=) c.1858C= (p.Pro620=) n.2249C= n.2573C= n.2216C= | |
| 19 | g.11123272C>G | CA404095233 | LDLR | c.2497C>G (p.Pro833Ala) c.*308C>G (n.*308C>G) c.2119C>G (p.Pro707Ala) c.2239C>G (p.Pro747Ala) c.2493C>G c.1735C>G (p.Pro579Ala) c.2116C>G (p.Pro706Ala) c.1705C>G (p.Pro569Ala) c.1858C>G (p.Pro620Ala) n.2249C>G n.2573C>G n.2216C>G | |
| 19 | g.11123272C>T | CA404095234 | LDLR | c.2497C>T (p.Pro833Ser) c.*308C>T (n.*308C>T) c.2119C>T (p.Pro707Ser) c.2239C>T (p.Pro747Ser) c.2493C>T c.1735C>T (p.Pro579Ser) c.2116C>T (p.Pro706Ser) c.1705C>T (p.Pro569Ser) c.1858C>T (p.Pro620Ser) n.2249C>T n.2573C>T n.2216C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11123274del | CA2695238658 | LDLR | c.2499del (p.Asp834ThrfsTer17) c.*310del (n.*310del) c.2121del (p.Asp708ThrfsTer17) c.2241del (p.Asp748ThrfsTer17) c.2495del c.1737del (p.Asp580ThrfsTer17) c.2118del (p.Asp707ThrfsTer17) c.1707del (p.Asp570ThrfsTer17) c.1860del (p.Asp621ThrfsTer17) n.2251del n.2575del n.2218del | |
| 19 | g.11123273C>A | CA404095237 | LDLR | c.2498C>A (p.Pro833His) c.*309C>A (n.*309C>A) c.2120C>A (p.Pro707His) c.2240C>A (p.Pro747His) c.2494C>A c.1736C>A (p.Pro579His) c.2117C>A (p.Pro706His) c.1706C>A (p.Pro569His) c.1859C>A (p.Pro620His) n.2250C>A n.2574C>A n.2217C>A | |
| 19 | g.11123273C>G | CA404095240 | LDLR | c.2498C>G (p.Pro833Arg) c.*309C>G (n.*309C>G) c.2120C>G (p.Pro707Arg) c.2240C>G (p.Pro747Arg) c.2494C>G c.1736C>G (p.Pro579Arg) c.2117C>G (p.Pro706Arg) c.1706C>G (p.Pro569Arg) c.1859C>G (p.Pro620Arg) n.2250C>G n.2574C>G n.2217C>G | |
| 19 | g.11123273C>T | CA404095238 | LDLR | c.2498C>T (p.Pro833Leu) c.*309C>T (n.*309C>T) c.2120C>T (p.Pro707Leu) c.2240C>T (p.Pro747Leu) c.2494C>T c.1736C>T (p.Pro579Leu) c.2117C>T (p.Pro706Leu) c.1706C>T (p.Pro569Leu) c.1859C>T (p.Pro620Leu) n.2250C>T n.2574C>T n.2217C>T | |
| 19 | g.11123274C>A | CA505486984 | LDLR | c.2499C>A (p.Pro833=) c.*310C>A (n.*310C>A) c.2121C>A (p.Pro707=) c.2241C>A (p.Pro747=) c.2495C>A c.1737C>A (p.Pro579=) c.2118C>A (p.Pro706=) c.1707C>A (p.Pro569=) c.1860C>A (p.Pro620=) n.2251C>A n.2575C>A n.2218C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11123274C= | CA2322777228 | LDLR | c.2499C= (p.Pro833=) c.*310C= (n.*310C=) c.2121C= (p.Pro707=) c.2241C= (p.Pro747=) c.2495C= c.1737C= (p.Pro579=) c.2118C= (p.Pro706=) c.1707C= (p.Pro569=) c.1860C= (p.Pro620=) n.2251C= n.2575C= n.2218C= | |
| 19 | g.11123274C>G | CA505486986 | LDLR | c.2499C>G (p.Pro833=) c.*310C>G (n.*310C>G) c.2121C>G (p.Pro707=) c.2241C>G (p.Pro747=) c.2495C>G c.1737C>G (p.Pro579=) c.2118C>G (p.Pro706=) c.1707C>G (p.Pro569=) c.1860C>G (p.Pro620=) n.2251C>G n.2575C>G n.2218C>G | |
| 19 | g.11123274C>T | CA039214 | LDLR | c.2499C>T (p.Pro833=) c.*310C>T (n.*310C>T) c.2121C>T (p.Pro707=) c.2241C>T (p.Pro747=) c.2495C>T c.1737C>T (p.Pro579=) c.2118C>T (p.Pro706=) c.1707C>T (p.Pro569=) c.1860C>T (p.Pro620=) n.2251C>T n.2575C>T n.2218C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123275G>A | CA023653 | LDLR | c.2500G>A (p.Asp834Asn) c.*311G>A (n.*311G>A) c.2122G>A (p.Asp708Asn) c.2242G>A (p.Asp748Asn) c.2496G>A c.1738G>A (p.Asp580Asn) c.2119G>A (p.Asp707Asn) c.1708G>A (p.Asp570Asn) c.1861G>A (p.Asp621Asn) n.2252G>A n.2576G>A n.2219G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123275G>C | CA404095246 | LDLR | c.2500G>C (p.Asp834His) c.*311G>C (n.*311G>C) c.2122G>C (p.Asp708His) c.2242G>C (p.Asp748His) c.2496G>C c.1738G>C (p.Asp580His) c.2119G>C (p.Asp707His) c.1708G>C (p.Asp570His) c.1861G>C (p.Asp621His) n.2252G>C n.2576G>C n.2219G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123275G= | CA2322777229 | LDLR | c.2500G= (p.Asp834=) c.*311G= (n.*311G=) c.2122G= (p.Asp708=) c.2242G= (p.Asp748=) c.2496G= c.1738G= (p.Asp580=) c.2119G= (p.Asp707=) c.1708G= (p.Asp570=) c.1861G= (p.Asp621=) n.2252G= n.2576G= n.2219G= | |
| 19 | g.11123275G>T | CA404095250 | LDLR | c.2500G>T (p.Asp834Tyr) c.*311G>T (n.*311G>T) c.2122G>T (p.Asp708Tyr) c.2242G>T (p.Asp748Tyr) c.2496G>T c.1738G>T (p.Asp580Tyr) c.2119G>T (p.Asp707Tyr) c.1708G>T (p.Asp570Tyr) c.1861G>T (p.Asp621Tyr) n.2252G>T n.2576G>T n.2219G>T | |
| 19 | g.11123276A>C | CA404095256 | LDLR | c.2501A>C (p.Asp834Ala) c.*312A>C (n.*312A>C) c.2123A>C (p.Asp708Ala) c.2243A>C (p.Asp748Ala) c.2497A>C c.1739A>C (p.Asp580Ala) c.2120A>C (p.Asp707Ala) c.1709A>C (p.Asp570Ala) c.1862A>C (p.Asp621Ala) n.2253A>C n.2577A>C n.2220A>C | |
| 19 | g.11123276A>G | CA404095268 | LDLR | c.2501A>G (p.Asp834Gly) c.*312A>G (n.*312A>G) c.2123A>G (p.Asp708Gly) c.2243A>G (p.Asp748Gly) c.2497A>G c.1739A>G (p.Asp580Gly) c.2120A>G (p.Asp707Gly) c.1709A>G (p.Asp570Gly) c.1862A>G (p.Asp621Gly) n.2253A>G n.2577A>G n.2220A>G | |
| 19 | g.11123276A>T | CA404095272 | LDLR | c.2501A>T (p.Asp834Val) c.*312A>T (n.*312A>T) c.2123A>T (p.Asp708Val) c.2243A>T (p.Asp748Val) c.2497A>T c.1739A>T (p.Asp580Val) c.2120A>T (p.Asp707Val) c.1709A>T (p.Asp570Val) c.1862A>T (p.Asp621Val) n.2253A>T n.2577A>T n.2220A>T | |
| 19 | g.11123277C>A | CA404095278 | LDLR | c.2502C>A (p.Asp834Glu) c.*313C>A (n.*313C>A) c.2124C>A (p.Asp708Glu) c.2244C>A (p.Asp748Glu) c.2498C>A c.1740C>A (p.Asp580Glu) c.2121C>A (p.Asp707Glu) c.1710C>A (p.Asp570Glu) c.1863C>A (p.Asp621Glu) n.2254C>A n.2578C>A n.2221C>A | |
| 19 | g.11123277C>G | CA404095282 | LDLR | c.2502C>G (p.Asp834Glu) c.*313C>G (n.*313C>G) c.2124C>G (p.Asp708Glu) c.2244C>G (p.Asp748Glu) c.2498C>G c.1740C>G (p.Asp580Glu) c.2121C>G (p.Asp707Glu) c.1710C>G (p.Asp570Glu) c.1863C>G (p.Asp621Glu) n.2254C>G n.2578C>G n.2221C>G | |
| 19 | g.11123277C>T | CA505486987 | LDLR | c.2502C>T (p.Asp834=) c.*313C>T (n.*313C>T) c.2124C>T (p.Asp708=) c.2244C>T (p.Asp748=) c.2498C>T c.1740C>T (p.Asp580=) c.2121C>T (p.Asp707=) c.1710C>T (p.Asp570=) c.1863C>T (p.Asp621=) n.2254C>T n.2578C>T n.2221C>T | ClinVar gnomAD v4 |
| 19 | g.11123278A>C | CA404095289 | LDLR | c.2503A>C (p.Thr835Pro) c.*314A>C (n.*314A>C) c.2125A>C (p.Thr709Pro) c.2245A>C (p.Thr749Pro) c.2499A>C c.1741A>C (p.Thr581Pro) c.2122A>C (p.Thr708Pro) c.1711A>C (p.Thr571Pro) c.1864A>C (p.Thr622Pro) n.2255A>C n.2579A>C n.2222A>C | |
| 19 | g.11123278A>G | CA404095293 | LDLR | c.2503A>G (p.Thr835Ala) c.*314A>G (n.*314A>G) c.2125A>G (p.Thr709Ala) c.2245A>G (p.Thr749Ala) c.2499A>G c.1741A>G (p.Thr581Ala) c.2122A>G (p.Thr708Ala) c.1711A>G (p.Thr571Ala) c.1864A>G (p.Thr622Ala) n.2255A>G n.2579A>G n.2222A>G | |
| 19 | g.11123278A>T | CA404095295 | LDLR | c.2503A>T (p.Thr835Ser) c.*314A>T (n.*314A>T) c.2125A>T (p.Thr709Ser) c.2245A>T (p.Thr749Ser) c.2499A>T c.1741A>T (p.Thr581Ser) c.2122A>T (p.Thr708Ser) c.1711A>T (p.Thr571Ser) c.1864A>T (p.Thr622Ser) n.2255A>T n.2579A>T n.2222A>T | |
| 19 | g.11123279C>A | CA404095300 | LDLR | c.2504C>A (p.Thr835Asn) c.*315C>A (n.*315C>A) c.2126C>A (p.Thr709Asn) c.2246C>A (p.Thr749Asn) c.2500C>A c.1742C>A (p.Thr581Asn) c.2123C>A (p.Thr708Asn) c.1712C>A (p.Thr571Asn) c.1865C>A (p.Thr622Asn) n.2256C>A n.2580C>A n.2223C>A | dbSNP |
| 19 | g.11123279C= | CA2322777230 | LDLR | c.2504C= (p.Thr835=) c.*315C= (n.*315C=) c.2126C= (p.Thr709=) c.2246C= (p.Thr749=) c.2500C= c.1742C= (p.Thr581=) c.2123C= (p.Thr708=) c.1712C= (p.Thr571=) c.1865C= (p.Thr622=) n.2256C= n.2580C= n.2223C= | |
| 19 | g.11123279C>G | CA404095304 | LDLR | c.2504C>G (p.Thr835Ser) c.*315C>G (n.*315C>G) c.2126C>G (p.Thr709Ser) c.2246C>G (p.Thr749Ser) c.2500C>G c.1742C>G (p.Thr581Ser) c.2123C>G (p.Thr708Ser) c.1712C>G (p.Thr571Ser) c.1865C>G (p.Thr622Ser) n.2256C>G n.2580C>G n.2223C>G | |
| 19 | g.11123279C>T | CA404095307 | LDLR | c.2504C>T (p.Thr835Ile) c.*315C>T (n.*315C>T) c.2126C>T (p.Thr709Ile) c.2246C>T (p.Thr749Ile) c.2500C>T c.1742C>T (p.Thr581Ile) c.2123C>T (p.Thr708Ile) c.1712C>T (p.Thr571Ile) c.1865C>T (p.Thr622Ile) n.2256C>T n.2580C>T n.2223C>T | gnomAD v4 |