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.11123292_11123310del | CA913189007 | LDLR | c.2517_2535del (p.Gly840ProfsTer5) c.*328_*346del (n.*328_*346del) c.2139_2157del (p.Gly714ProfsTer5) c.2259_2277del (p.Gly754ProfsTer5) c.2513_2531del c.1755_1773del (p.Gly586ProfsTer5) c.2136_2154del (p.Gly713ProfsTer5) c.1725_1743del (p.Gly576ProfsTer5) c.1878_1896del (p.Gly627ProfsTer5) n.2269_2287del n.2593_2611del n.2236_2254del | gnomAD v4 |
| 19 | g.11123294_11123304delinsGGGCCACCCCT | CA2322777241 | LDLR | c.2519_2529delinsGGGCCACCCCT (p.Gly840=) c.*330_*340delinsGGGCCACCCCT (n.*330_*340delinsGGGCCACCCCT) c.2141_2151delinsGGGCCACCCCT (p.Gly714=) c.2261_2271delinsGGGCCACCCCT (p.Gly754=) c.2515_2525delinsGGGCCACCCCT c.1757_1767delinsGGGCCACCCCT (p.Gly586=) c.2138_2148delinsGGGCCACCCCT (p.Gly713=) c.1727_1737delinsGGGCCACCCCT (p.Gly576=) c.1880_1890delinsGGGCCACCCCT (p.Gly627=) n.2271_2281delinsGGGCCACCCCT n.2595_2605delinsGGGCCACCCCT n.2238_2248delinsGGGCCACCCCT | |
| 19 | g.11123297_11123306del | CA10585812 | LDLR | c.2522_2531del (p.Ala841GlyfsTer7) c.*333_*342del (n.*333_*342del) c.2144_2153del (p.Ala715GlyfsTer7) c.2264_2273del (p.Ala755GlyfsTer7) c.2518_2527del c.1760_1769del (p.Ala587GlyfsTer7) c.2141_2150del (p.Ala714GlyfsTer7) c.1730_1739del (p.Ala577GlyfsTer7) c.1883_1892del (p.Ala628GlyfsTer7) n.2274_2283del n.2598_2607del n.2241_2250del | ClinVar dbSNP |
| 19 | g.11123303del | CA645373246 | LDLR | c.2528del (p.Pro843LeufsTer8) c.*339del (n.*339del) c.2150del (p.Pro717LeufsTer8) c.2270del (p.Pro757LeufsTer8) c.2524del c.1766del (p.Pro589LeufsTer8) c.2147del (p.Pro716LeufsTer8) c.1736del (p.Pro579LeufsTer8) c.1889del (p.Pro630LeufsTer8) n.2280del n.2604del n.2247del | ClinVar dbSNP |
| 19 | g.11123303C>A | CA404095553 | LDLR | c.2528C>A (p.Pro843His) c.*339C>A (n.*339C>A) c.2150C>A (p.Pro717His) c.2270C>A (p.Pro757His) c.2524C>A c.1766C>A (p.Pro589His) c.2147C>A (p.Pro716His) c.1736C>A (p.Pro579His) c.1889C>A (p.Pro630His) n.2280C>A n.2604C>A n.2247C>A | |
| 19 | g.11123303C>G | CA404095556 | LDLR | c.2528C>G (p.Pro843Arg) c.*339C>G (n.*339C>G) c.2150C>G (p.Pro717Arg) c.2270C>G (p.Pro757Arg) c.2524C>G c.1766C>G (p.Pro589Arg) c.2147C>G (p.Pro716Arg) c.1736C>G (p.Pro579Arg) c.1889C>G (p.Pro630Arg) n.2280C>G n.2604C>G n.2247C>G | gnomAD v4 |
| 19 | g.11123303C>T | CA404095554 | LDLR | c.2528C>T (p.Pro843Leu) c.*339C>T (n.*339C>T) c.2150C>T (p.Pro717Leu) c.2270C>T (p.Pro757Leu) c.2524C>T c.1766C>T (p.Pro589Leu) c.2147C>T (p.Pro716Leu) c.1736C>T (p.Pro579Leu) c.1889C>T (p.Pro630Leu) n.2280C>T n.2604C>T n.2247C>T | |
| 19 | g.11123303_11123304delinsCT | CA2322777248 | LDLR | c.2528_2529delinsCT (p.Pro843=) c.*339_*340delinsCT (n.*339_*340delinsCT) c.2150_2151delinsCT (p.Pro717=) c.2270_2271delinsCT (p.Pro757=) c.2524_2525delinsCT c.1766_1767delinsCT (p.Pro589=) c.2147_2148delinsCT (p.Pro716=) c.1736_1737delinsCT (p.Pro579=) c.1889_1890delinsCT (p.Pro630=) n.2280_2281delinsCT n.2604_2605delinsCT n.2247_2248delinsCT | |
| 19 | g.11123304del | CA10576331 | LDLR | c.2529del (p.Leu845SerfsTer6) c.*340del (n.*340del) c.2151del (p.Leu719SerfsTer6) c.2271del (p.Leu759SerfsTer6) c.2525del c.1767del (p.Leu591SerfsTer6) c.2148del (p.Leu718SerfsTer6) c.1737del (p.Leu581SerfsTer6) c.1890del (p.Leu632SerfsTer6) n.2281del n.2605del n.2248del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11123304T>A | CA505487058 | LDLR | c.2529T>A (p.Pro843=) c.*340T>A (n.*340T>A) c.2151T>A (p.Pro717=) c.2271T>A (p.Pro757=) c.2525T>A c.1767T>A (p.Pro589=) c.2148T>A (p.Pro716=) c.1737T>A (p.Pro579=) c.1890T>A (p.Pro630=) n.2281T>A n.2605T>A n.2248T>A | gnomAD v4 |
| 19 | g.11123304T>C | CA505487059 | LDLR | c.2529T>C (p.Pro843=) c.*340T>C (n.*340T>C) c.2151T>C (p.Pro717=) c.2271T>C (p.Pro757=) c.2525T>C c.1767T>C (p.Pro589=) c.2148T>C (p.Pro716=) c.1737T>C (p.Pro579=) c.1890T>C (p.Pro630=) n.2281T>C n.2605T>C n.2248T>C | |
| 19 | g.11123304T>G | CA505487060 | LDLR | c.2529T>G (p.Pro843=) c.*340T>G (n.*340T>G) c.2151T>G (p.Pro717=) c.2271T>G (p.Pro757=) c.2525T>G c.1767T>G (p.Pro589=) c.2148T>G (p.Pro716=) c.1737T>G (p.Pro579=) c.1890T>G (p.Pro630=) n.2281T>G n.2605T>G n.2248T>G | |
| 19 | g.11123304_11123305delinsTG | CA2322777249 | LDLR | c.2529_2530delinsTG (p.Pro843=) c.*340_*341delinsTG (n.*340_*341delinsTG) c.2151_2152delinsTG (p.Pro717=) c.2271_2272delinsTG (p.Pro757=) c.2525_2526delinsTG c.1767_1768delinsTG (p.Pro589=) c.2148_2149delinsTG (p.Pro716=) c.1737_1738delinsTG (p.Pro579=) c.1890_1891delinsTG (p.Pro630=) n.2281_2282delinsTG n.2605_2606delinsTG n.2248_2249delinsTG | |
| 19 | g.11123305G>A | CA404095585 | LDLR | c.2530G>A (p.Gly844Arg) c.*341G>A (n.*341G>A) c.2152G>A (p.Gly718Arg) c.2272G>A (p.Gly758Arg) c.2526G>A c.1768G>A (p.Gly590Arg) c.2149G>A (p.Gly717Arg) c.1738G>A (p.Gly580Arg) c.1891G>A (p.Gly631Arg) n.2282G>A n.2606G>A n.2249G>A | |
| 19 | g.11123305G>C | CA404095571 | LDLR | c.2530G>C (p.Gly844Arg) c.*341G>C (n.*341G>C) c.2152G>C (p.Gly718Arg) c.2272G>C (p.Gly758Arg) c.2526G>C c.1768G>C (p.Gly590Arg) c.2149G>C (p.Gly717Arg) c.1738G>C (p.Gly580Arg) c.1891G>C (p.Gly631Arg) n.2282G>C n.2606G>C n.2249G>C | |
| 19 | g.11123305G>T | CA404095583 | LDLR | c.2530G>T (p.Gly844Trp) c.*341G>T (n.*341G>T) c.2152G>T (p.Gly718Trp) c.2272G>T (p.Gly758Trp) c.2526G>T c.1768G>T (p.Gly590Trp) c.2149G>T (p.Gly717Trp) c.1738G>T (p.Gly580Trp) c.1891G>T (p.Gly631Trp) n.2282G>T n.2606G>T n.2249G>T | |
| 19 | g.11123307del | CA645509297 | LDLR | c.2532del (p.Leu845SerfsTer6) c.*343del (n.*343del) c.2154del (p.Leu719SerfsTer6) c.2274del (p.Leu759SerfsTer6) c.2528del c.1770del (p.Leu591SerfsTer6) c.2151del (p.Leu718SerfsTer6) c.1740del (p.Leu581SerfsTer6) c.1893del (p.Leu632SerfsTer6) n.2284del n.2608del n.2251del | ClinVar dbSNP |
| 19 | g.11123306G>A | CA404095589 | LDLR | c.2531G>A (p.Gly844Glu) c.*342G>A (n.*342G>A) c.2153G>A (p.Gly718Glu) c.2273G>A (p.Gly758Glu) c.2527G>A c.1769G>A (p.Gly590Glu) c.2150G>A (p.Gly717Glu) c.1739G>A (p.Gly580Glu) c.1892G>A (p.Gly631Glu) n.2283G>A n.2607G>A n.2250G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11123306G>C | CA039308 | LDLR | c.2531G>C (p.Gly844Ala) c.*342G>C (n.*342G>C) c.2153G>C (p.Gly718Ala) c.2273G>C (p.Gly758Ala) c.2527G>C c.1769G>C (p.Gly590Ala) c.2150G>C (p.Gly717Ala) c.1739G>C (p.Gly580Ala) c.1892G>C (p.Gly631Ala) n.2283G>C n.2607G>C n.2250G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11123306G= | CA2322777250 | LDLR | c.2531G= (p.Gly844=) c.*342G= (n.*342G=) c.2153G= (p.Gly718=) c.2273G= (p.Gly758=) c.2527G= c.1769G= (p.Gly590=) c.2150G= (p.Gly717=) c.1739G= (p.Gly580=) c.1892G= (p.Gly631=) n.2283G= n.2607G= n.2250G= | |
| 19 | g.11123306G>T | CA039316 | LDLR | c.2531G>T (p.Gly844Val) c.*342G>T (n.*342G>T) c.2153G>T (p.Gly718Val) c.2273G>T (p.Gly758Val) c.2527G>T c.1769G>T (p.Gly590Val) c.2150G>T (p.Gly717Val) c.1739G>T (p.Gly580Val) c.1892G>T (p.Gly631Val) n.2283G>T n.2607G>T n.2250G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11123307G>A | CA505487065 | LDLR | c.2532G>A (p.Gly844=) c.*343G>A (n.*343G>A) c.2154G>A (p.Gly718=) c.2274G>A (p.Gly758=) c.2528G>A c.1770G>A (p.Gly590=) c.2151G>A (p.Gly717=) c.1740G>A (p.Gly580=) c.1893G>A (p.Gly631=) n.2284G>A n.2608G>A n.2251G>A | ClinVar dbSNP |
| 19 | g.11123307G>C | CA505487067 | LDLR | c.2532G>C (p.Gly844=) c.*343G>C (n.*343G>C) c.2154G>C (p.Gly718=) c.2274G>C (p.Gly758=) c.2528G>C c.1770G>C (p.Gly590=) c.2151G>C (p.Gly717=) c.1740G>C (p.Gly580=) c.1893G>C (p.Gly631=) n.2284G>C n.2608G>C n.2251G>C | |
| 19 | g.11123307G>T | CA505487069 | LDLR | c.2532G>T (p.Gly844=) c.*343G>T (n.*343G>T) c.2154G>T (p.Gly718=) c.2274G>T (p.Gly758=) c.2528G>T c.1770G>T (p.Gly590=) c.2151G>T (p.Gly717=) c.1740G>T (p.Gly580=) c.1893G>T (p.Gly631=) n.2284G>T n.2608G>T n.2251G>T | |
| 19 | g.11123307_11123335delinsGCTCACCACGGTGGAGATAGTGACAATGT | CA2322777251 | LDLR | c.2532_2560delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly844=) c.*343_*371delinsGCTCACCACGGTGGAGATAGTGACAATGT (n.*343_*371delinsGCTCACCACGGTGGAGATAGTGACAATGT) c.2154_2182delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly718=) c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly758=) c.2528_2556delinsGCTCACCACGGTGGAGATAGTGACAATGT c.1770_1798delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly590=) c.2151_2179delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly717=) c.1740_1768delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly580=) c.1893_1921delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly631=) n.2284_2312delinsGCTCACCACGGTGGAGATAGTGACAATGT n.2608_2636delinsGCTCACCACGGTGGAGATAGTGACAATGT n.2251_2279delinsGCTCACCACGGTGGAGATAGTGACAATGT | |
| 19 | g.11123308C>A | CA404095591 | LDLR | c.2533C>A (p.Leu845Ile) c.*344C>A (n.*344C>A) c.2155C>A (p.Leu719Ile) c.2275C>A (p.Leu759Ile) c.2529C>A c.1771C>A (p.Leu591Ile) c.2152C>A (p.Leu718Ile) c.1741C>A (p.Leu581Ile) c.1894C>A (p.Leu632Ile) n.2285C>A n.2609C>A n.2252C>A | |
| 19 | g.11123308C>G | CA404095593 | LDLR | c.2533C>G (p.Leu845Val) c.*344C>G (n.*344C>G) c.2155C>G (p.Leu719Val) c.2275C>G (p.Leu759Val) c.2529C>G c.1771C>G (p.Leu591Val) c.2152C>G (p.Leu718Val) c.1741C>G (p.Leu581Val) c.1894C>G (p.Leu632Val) n.2285C>G n.2609C>G n.2252C>G | |
| 19 | g.11123308C>T | CA404095598 | LDLR | c.2533C>T (p.Leu845Phe) c.*344C>T (n.*344C>T) c.2155C>T (p.Leu719Phe) c.2275C>T (p.Leu759Phe) c.2529C>T c.1771C>T (p.Leu591Phe) c.2152C>T (p.Leu718Phe) c.1741C>T (p.Leu581Phe) c.1894C>T (p.Leu632Phe) n.2285C>T n.2609C>T n.2252C>T | |
| 19 | g.11123315_11123342dup | CA2573156030 | LDLR | c.2540_2567dup (p.Gln856HisfsTer21) c.*351_*378dup (n.*351_*378dup) c.2162_2189dup (p.Gln730HisfsTer21) c.2282_2309dup (p.Gln770HisfsTer21) c.2536_2563dup c.1778_1805dup (p.Gln602HisfsTer21) c.2159_2186dup (p.Gln729HisfsTer21) c.1748_1775dup (p.Gln592HisfsTer21) c.2282_2309dup (p.Gln770HisfsTer30) c.1901_1928dup (p.Gln643HisfsTer21) n.2292_2319dup n.2616_2643dup n.2259_2286dup | ClinVar dbSNP |
| 19 | g.11123315_11123342del | CA658653855 | LDLR | c.2540_2567del (p.Thr847LysfsTer18) c.*351_*378del (n.*351_*378del) c.2162_2189del (p.Thr721LysfsTer18) c.2282_2309del (p.Thr761LysfsTer18) c.2536_2563del c.1778_1805del (p.Thr593LysfsTer18) c.2159_2186del (p.Thr720LysfsTer18) c.1748_1775del (p.Thr583LysfsTer18) c.2282_2309del (p.Thr761LysfsTer?) c.1901_1928del (p.Thr634LysfsTer18) n.2292_2319del n.2616_2643del n.2259_2286del | ClinVar dbSNP |
| 19 | g.11123309T>A | CA404095623 | LDLR | c.2534T>A (p.Leu845His) c.*345T>A (n.*345T>A) c.2156T>A (p.Leu719His) c.2276T>A (p.Leu759His) c.2530T>A c.1772T>A (p.Leu591His) c.2153T>A (p.Leu718His) c.1742T>A (p.Leu581His) c.1895T>A (p.Leu632His) n.2286T>A n.2610T>A n.2253T>A | |
| 19 | g.11123309T>C | CA039330 | LDLR | c.2534T>C (p.Leu845Pro) c.*345T>C (n.*345T>C) c.2156T>C (p.Leu719Pro) c.2276T>C (p.Leu759Pro) c.2530T>C c.1772T>C (p.Leu591Pro) c.2153T>C (p.Leu718Pro) c.1742T>C (p.Leu581Pro) c.1895T>C (p.Leu632Pro) n.2286T>C n.2610T>C n.2253T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123309T>G | CA404095629 | LDLR | c.2534T>G (p.Leu845Arg) c.*345T>G (n.*345T>G) c.2156T>G (p.Leu719Arg) c.2276T>G (p.Leu759Arg) c.2530T>G c.1772T>G (p.Leu591Arg) c.2153T>G (p.Leu718Arg) c.1742T>G (p.Leu581Arg) c.1895T>G (p.Leu632Arg) n.2286T>G n.2610T>G n.2253T>G | |
| 19 | g.11123309T= | CA2322777252 | LDLR | c.2534T= (p.Leu845=) c.*345T= (n.*345T=) c.2156T= (p.Leu719=) c.2276T= (p.Leu759=) c.2530T= c.1772T= (p.Leu591=) c.2153T= (p.Leu718=) c.1742T= (p.Leu581=) c.1895T= (p.Leu632=) n.2286T= n.2610T= n.2253T= | |
| 19 | g.11123310C>A | CA505487071 | LDLR | c.2535C>A (p.Leu845=) c.*346C>A (n.*346C>A) c.2157C>A (p.Leu719=) c.2277C>A (p.Leu759=) c.2531C>A c.1773C>A (p.Leu591=) c.2154C>A (p.Leu718=) c.1743C>A (p.Leu581=) c.1896C>A (p.Leu632=) n.2287C>A n.2611C>A n.2254C>A | |
| 19 | g.11123310C= | CA2322777253 | LDLR | c.2535C= (p.Leu845=) c.*346C= (n.*346C=) c.2157C= (p.Leu719=) c.2277C= (p.Leu759=) c.2531C= c.1773C= (p.Leu591=) c.2154C= (p.Leu718=) c.1743C= (p.Leu581=) c.1896C= (p.Leu632=) n.2287C= n.2611C= n.2254C= | |
| 19 | g.11123310C>G | CA505487073 | LDLR | c.2535C>G (p.Leu845=) c.*346C>G (n.*346C>G) c.2157C>G (p.Leu719=) c.2277C>G (p.Leu759=) c.2531C>G c.1773C>G (p.Leu591=) c.2154C>G (p.Leu718=) c.1743C>G (p.Leu581=) c.1896C>G (p.Leu632=) n.2287C>G n.2611C>G n.2254C>G | |
| 19 | g.11123310C>T | CA305305194 | LDLR | c.2535C>T (p.Leu845=) c.*346C>T (n.*346C>T) c.2157C>T (p.Leu719=) c.2277C>T (p.Leu759=) c.2531C>T c.1773C>T (p.Leu591=) c.2154C>T (p.Leu718=) c.1743C>T (p.Leu581=) c.1896C>T (p.Leu632=) n.2287C>T n.2611C>T n.2254C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123311A>C | CA404095638 | LDLR | c.2536A>C (p.Thr846Pro) c.*347A>C (n.*347A>C) c.2158A>C (p.Thr720Pro) c.2278A>C (p.Thr760Pro) c.2532A>C c.1774A>C (p.Thr592Pro) c.2155A>C (p.Thr719Pro) c.1744A>C (p.Thr582Pro) c.1897A>C (p.Thr633Pro) n.2288A>C n.2612A>C n.2255A>C |