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.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 | |
| 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 |