WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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 |