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.11113288_11123238del | CA10585350 | LDLR | c.1455_2463del c.1197_*274del c.1077_2085del c.1197_2205del c.1451_2459del c.693_1701del c.1074_2082del c.816_1671del c.816_1824del n.1347_2215del n.1314_2539del n.1314_2182del | ClinVar |
| 19 | g.11120093_11123345del | CA2695202625 | LDLR | c.2105_2569+1del c.1707_*380+1del c.1727_2191+1del c.1847_2311+1del c.2101_2565+1del c.1343_1807+1del c.1724_2188+1del c.1466_1777+1del c.1466_1930+1del n.1857_2321+1del n.1964_2645+1del n.1824_2288+1del | |
| 19 | g.11120091_11123345del | CA658824575 | LDLR | c.2104-1_2569+1del c.1706-1_*380+1del c.1726-1_2191+1del c.1846-1_2311+1del c.2100-1_2565+1del c.1342-1_1807+1del c.1723-1_2188+1del c.1465-1_1777+1del c.1465-1_1930+1del n.1856-1_2321+1del n.1963-1_2645+1del n.1823-1_2288+1del | ClinVar |
| 19 | g.11120137_11124406del | CA250475 | LDLR | c.2149_2569+1062del c.1751_*380+1062del c.1771_2191+1062del c.1891_2311+1062del c.2145_2565+1062del c.1387_1807+1062del c.1768_2188+1062del c.1510_1777+1062del c.1510_1930+1062del n.1901_2321+1062del n.2008_2645+1062del n.1868_2288+1062del | ClinVar |
| 19 | g.11120137_11124409del | CA916081229 | LDLR | c.2149_2569+1065del c.1751_*380+1065del c.1771_2191+1065del c.1891_2311+1065del c.2145_2565+1065del c.1387_1807+1065del c.1768_2188+1065del c.1510_1777+1065del c.1510_1930+1065del n.1901_2321+1065del n.2008_2645+1065del n.1868_2288+1065del | ClinVar |
| 19 | g.11120137_11124409delinsCTCAGCACTTTGGG | CA2573050615 | LDLR | c.2149_2569+1065delinsCTCAGCACTTTGGG c.1751_*380+1065delinsCTCAGCACTTTGGG c.1771_2191+1065delinsCTCAGCACTTTGGG c.1891_2311+1065delinsCTCAGCACTTTGGG c.2145_2565+1065delinsCTCAGCACTTTGGG c.1387_1807+1065delinsCTCAGCACTTTGGG c.1768_2188+1065delinsCTCAGCACTTTGGG c.1510_1777+1065delinsCTCAGCACTTTGGG c.1510_1930+1065delinsCTCAGCACTTTGGG n.1901_2321+1065delinsCTCAGCACTTTGGG n.2008_2645+1065delinsCTCAGCACTTTGGG n.1868_2288+1065delinsCTCAGCACTTTGGG | |
| 19 | g.11122220_11129195del | CA2573320454 | LDLR | c.2399-954_2648-318del c.*210-954_*459-318del c.2021-954_2270-318del c.2141-954_2390-318del c.2395-954_2644-318del c.1637-954_1886-318del c.2018-954_2267-318del c.1607-954_1856-318del c.2141-954_2390-256del c.2141-954_2312-318del c.1760-954_2009-318del n.2151-954_2400-318del n.2475-954_2724-318del n.2118-954_2367-318del | |
| 19 | g.11123171_11123342delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA | CA2322777160 | LDLR | c.2399-3_2567delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.*210-3_*378delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2021-3_2189delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2141-3_2309delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2395-3_2563delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1637-3_1805delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2018-3_2186delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1607-3_1775delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1760-3_1928delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2151-3_2319delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2475-3_2643delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2118-3_2286delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA | |
| 19 | g.11123174_11123344del | CA645509293 | LDLR | c.2399_2569del c.*210_*380del c.2021_2191del c.2141_2311del c.2395_2565del c.1637_1807del c.2018_2188del c.1607_1777del c.1760_1930del n.2151_2321del n.2475_2645del n.2118_2288del | ClinVar dbSNP |
| 19 | g.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 | 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 |