Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11113244_11120565del | CA2695195458 | LDLR | c.1445-34_2398+43del c.1187-34_*209+43del c.1067-34_2020+43del c.1187-34_2140+43del c.1441-34_2394+43del c.683-34_1636+43del c.1064-34_2017+43del c.806-34_1606+332del c.806-34_1759+43del n.1337-34_2150+43del n.1304-34_2300del n.1304-34_2117+43del | |
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.11117913_11122676del | CA10576322 | LDLR | c.2103+915_2399-498del c.1705+1701_*210-498del c.1725+915_2021-498del c.1845+915_2141-498del c.2099+915_2395-498del c.1341+915_1637-498del c.1722+915_2018-498del c.1464+915_1607-498del c.1464+915_1760-498del n.1855+1701_2151-498del n.1962+915_2475-498del n.1822+1701_2118-498del | ClinVar |
19 | g.11118198_11122020del | CA2573050614 | LDLR | c.2103+1200_2399-1154del c.1706-1894_*210-1154del c.1725+1200_2021-1154del c.1845+1200_2141-1154del c.2099+1200_2395-1154del c.1341+1200_1637-1154del c.1722+1200_2018-1154del c.1464+1200_1607-1154del c.1464+1200_1760-1154del n.1856-1894_2151-1154del n.1962+1200_2475-1154del n.1823-1894_2118-1154del | |
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_11120523del | CA658824574 | LDLR | c.2104-1_2398+1del c.1706-1_*209+1del c.1726-1_2020+1del c.1846-1_2140+1del c.2100-1_2394+1del c.1342-1_1636+1del c.1723-1_2017+1del c.1465-1_1606+290del c.1465-1_1759+1del n.1856-1_2150+1del n.1963-1_2258del n.1823-1_2117+1del | ClinVar |
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.11120370_11121586del | CA913189004 | LDLR | c.2246_2398+1064del c.*57_*209+1064del c.1868_2020+1064del c.1988_2140+1064del c.2242_2394+1064del c.1484_1636+1064del c.1865_2017+1064del c.1606+137_1606+1353del (n.1606+137_1606+1353del) c.1607_1759+1064del n.1998_2150+1064del n.2105_2474+847del n.1965_2117+1064del | ClinVar |
19 | g.11120410_11120422delinsCTGCCAGTATCTG | CA2322775561 | LDLR | c.2286_2298delinsCTGCCAGTATCTG (p.Gly762=) c.*97_*109delinsCTGCCAGTATCTG (n.*97_*109delinsCTGCCAGTATCTG) c.1908_1920delinsCTGCCAGTATCTG (p.Gly636=) c.2028_2040delinsCTGCCAGTATCTG (p.Gly676=) c.2282_2294delinsCTGCCAGTATCTG c.1524_1536delinsCTGCCAGTATCTG (p.Gly508=) c.1905_1917delinsCTGCCAGTATCTG (p.Gly635=) c.1606+177_1606+189delinsCTGCCAGTATCTG (n.1606+177_1606+189delinsCTGCCAGTATCTG) c.1647_1659delinsCTGCCAGTATCTG (p.Gly549=) n.2038_2050delinsCTGCCAGTATCTG n.2145_2157delinsCTGCCAGTATCTG n.2005_2017delinsCTGCCAGTATCTG | |
19 | g.11120411_11120424delinsTGCCAGTATCTGTG | CA2322775564 | LDLR | c.2287_2300delinsTGCCAGTATCTGTG (p.Cys763=) c.*98_*111delinsTGCCAGTATCTGTG (n.*98_*111delinsTGCCAGTATCTGTG) c.1909_1922delinsTGCCAGTATCTGTG (p.Cys637=) c.2029_2042delinsTGCCAGTATCTGTG (p.Cys677=) c.2283_2296delinsTGCCAGTATCTGTG c.1525_1538delinsTGCCAGTATCTGTG (p.Cys509=) c.1906_1919delinsTGCCAGTATCTGTG (p.Cys636=) c.1606+178_1606+191delinsTGCCAGTATCTGTG (n.1606+178_1606+191delinsTGCCAGTATCTGTG) c.1648_1661delinsTGCCAGTATCTGTG (p.Cys550=) n.2039_2052delinsTGCCAGTATCTGTG n.2146_2159delinsTGCCAGTATCTGTG n.2006_2019delinsTGCCAGTATCTGTG | |
19 | g.11120415_11120426del | CA10585735 | LDLR | c.2291_2302del (p.Gln764_Cys767del) c.*102_*113del (n.*102_*113del) c.1913_1924del (p.Gln638_Cys641del) c.2033_2044del (p.Gln678_Cys681del) c.2287_2298del c.1529_1540del (p.Gln510_Cys513del) c.1910_1921del (p.Gln637_Cys640del) c.1606+182_1606+193del (n.1606+182_1606+193del) c.1652_1663del (p.Gln551_Cys554del) n.2043_2054del n.2150_2161del n.2010_2021del | ClinVar dbSNP |
19 | g.11120412_11120424del | CA10585733 | LDLR | c.2288_2300del (p.Cys763SerfsTer28) c.*99_*111del (n.*99_*111del) c.1910_1922del (p.Cys637SerfsTer28) c.2030_2042del (p.Cys677SerfsTer28) c.2284_2296del c.1526_1538del (p.Cys509SerfsTer28) c.1907_1919del (p.Cys636SerfsTer28) c.1606+179_1606+191del (n.1606+179_1606+191del) c.1649_1661del (p.Cys550SerfsTer28) n.2040_2052del n.2147_2159del n.2007_2019del | ClinVar dbSNP |
19 | g.11120416G>A | CA505743487 | LDLR | c.2292G>A (p.Gln764=) c.*103G>A (n.*103G>A) c.1914G>A (p.Gln638=) c.2034G>A (p.Gln678=) c.2288G>A c.1530G>A (p.Gln510=) c.1911G>A (p.Gln637=) c.1606+183G>A (n.1606+183G>A) c.1653G>A (p.Gln551=) n.2044G>A n.2151G>A n.2011G>A | |
19 | g.11120416G>C | CA404093579 | LDLR | c.2292G>C (p.Gln764His) c.*103G>C (n.*103G>C) c.1914G>C (p.Gln638His) c.2034G>C (p.Gln678His) c.2288G>C c.1530G>C (p.Gln510His) c.1911G>C (p.Gln637His) c.1606+183G>C (n.1606+183G>C) c.1653G>C (p.Gln551His) n.2044G>C n.2151G>C n.2011G>C | |
19 | g.11120416G= | CA2322775568 | LDLR | c.2292G= (p.Gln764=) c.*103G= (n.*103G=) c.1914G= (p.Gln638=) c.2034G= (p.Gln678=) c.2288G= c.1530G= (p.Gln510=) c.1911G= (p.Gln637=) c.1606+183G= (n.1606+183G=) c.1653G= (p.Gln551=) n.2044G= n.2151G= n.2011G= | |
19 | g.11120416G>T | CA305302735 | LDLR | c.2292G>T (p.Gln764His) c.*103G>T (n.*103G>T) c.1914G>T (p.Gln638His) c.2034G>T (p.Gln678His) c.2288G>T c.1530G>T (p.Gln510His) c.1911G>T (p.Gln637His) c.1606+183G>T (n.1606+183G>T) c.1653G>T (p.Gln551His) n.2044G>T n.2151G>T n.2011G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11120417T>A | CA404093584 | LDLR | c.2293T>A (p.Tyr765Asn) c.*104T>A (n.*104T>A) c.1915T>A (p.Tyr639Asn) c.2035T>A (p.Tyr679Asn) c.2289T>A c.1531T>A (p.Tyr511Asn) c.1912T>A (p.Tyr638Asn) c.1606+184T>A (n.1606+184T>A) c.1654T>A (p.Tyr552Asn) n.2045T>A n.2152T>A n.2012T>A | |
19 | g.11120417T>C | CA404093586 | LDLR | c.2293T>C (p.Tyr765His) c.*104T>C (n.*104T>C) c.1915T>C (p.Tyr639His) c.2035T>C (p.Tyr679His) c.2289T>C c.1531T>C (p.Tyr511His) c.1912T>C (p.Tyr638His) c.1606+184T>C (n.1606+184T>C) c.1654T>C (p.Tyr552His) n.2045T>C n.2152T>C n.2012T>C | |
19 | g.11120417T>G | CA404093588 | LDLR | c.2293T>G (p.Tyr765Asp) c.*104T>G (n.*104T>G) c.1915T>G (p.Tyr639Asp) c.2035T>G (p.Tyr679Asp) c.2289T>G c.1531T>G (p.Tyr511Asp) c.1912T>G (p.Tyr638Asp) c.1606+184T>G (n.1606+184T>G) c.1654T>G (p.Tyr552Asp) n.2045T>G n.2152T>G n.2012T>G | |
19 | g.11120417T= | CA2322775569 | LDLR | c.2293T= (p.Tyr765=) c.*104T= (n.*104T=) c.1915T= (p.Tyr639=) c.2035T= (p.Tyr679=) c.2289T= c.1531T= (p.Tyr511=) c.1912T= (p.Tyr638=) c.1606+184T= (n.1606+184T=) c.1654T= (p.Tyr552=) n.2045T= n.2152T= n.2012T= | |
19 | g.11120417dup | CA10585736 | LDLR | c.2293dup (p.Tyr765LeufsTer?) c.*104dup (n.*104dup) c.1915dup (p.Tyr639LeufsTer?) c.2035dup (p.Tyr679LeufsTer?) c.2289dup c.1531dup (p.Tyr511LeufsTer?) c.1912dup (p.Tyr638LeufsTer?) c.1606+184dup (n.1606+184dup) c.1654dup (p.Tyr552LeufsTer?) n.2045dup n.2152dup n.2012dup | ClinVar dbSNP |
19 | g.11120418A>C | CA404093594 | LDLR | c.2294A>C (p.Tyr765Ser) c.*105A>C (n.*105A>C) c.1916A>C (p.Tyr639Ser) c.2036A>C (p.Tyr679Ser) c.2290A>C c.1532A>C (p.Tyr511Ser) c.1913A>C (p.Tyr638Ser) c.1606+185A>C (n.1606+185A>C) c.1655A>C (p.Tyr552Ser) n.2046A>C n.2153A>C n.2013A>C | |
19 | g.11120418A>G | CA404093591 | LDLR | c.2294A>G (p.Tyr765Cys) c.*105A>G (n.*105A>G) c.1916A>G (p.Tyr639Cys) c.2036A>G (p.Tyr679Cys) c.2290A>G c.1532A>G (p.Tyr511Cys) c.1913A>G (p.Tyr638Cys) c.1606+185A>G (n.1606+185A>G) c.1655A>G (p.Tyr552Cys) n.2046A>G n.2153A>G n.2013A>G | gnomAD v4 |
19 | g.11120418A>T | CA404093592 | LDLR | c.2294A>T (p.Tyr765Phe) c.*105A>T (n.*105A>T) c.1916A>T (p.Tyr639Phe) c.2036A>T (p.Tyr679Phe) c.2290A>T c.1532A>T (p.Tyr511Phe) c.1913A>T (p.Tyr638Phe) c.1606+185A>T (n.1606+185A>T) c.1655A>T (p.Tyr552Phe) n.2046A>T n.2153A>T n.2013A>T | |
19 | g.11120418dup | CA10585737 | LDLR | c.2294dup (p.Tyr765Ter) c.*105dup (n.*105dup) c.1916dup (p.Tyr639Ter) c.2036dup (p.Tyr679Ter) c.2290dup c.1532dup (p.Tyr511Ter) c.1913dup (p.Tyr638Ter) c.1606+185dup (n.1606+185dup) c.1655dup (p.Tyr552Ter) n.2046dup n.2153dup n.2013dup | ClinVar dbSNP |
19 | g.11120419T>A | CA10585738 | LDLR | c.2295T>A (p.Tyr765Ter) c.*106T>A (n.*106T>A) c.1917T>A (p.Tyr639Ter) c.2037T>A (p.Tyr679Ter) c.2291T>A c.1533T>A (p.Tyr511Ter) c.1914T>A (p.Tyr638Ter) c.1606+186T>A (n.1606+186T>A) c.1656T>A (p.Tyr552Ter) n.2047T>A n.2154T>A n.2014T>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120419T>C | CA038255 | LDLR | c.2295T>C (p.Tyr765=) c.*106T>C (n.*106T>C) c.1917T>C (p.Tyr639=) c.2037T>C (p.Tyr679=) c.2291T>C c.1533T>C (p.Tyr511=) c.1914T>C (p.Tyr638=) c.1606+186T>C (n.1606+186T>C) c.1656T>C (p.Tyr552=) n.2047T>C n.2154T>C n.2014T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120419T>G | CA404093599 | LDLR | c.2295T>G (p.Tyr765Ter) c.*106T>G (n.*106T>G) c.1917T>G (p.Tyr639Ter) c.2037T>G (p.Tyr679Ter) c.2291T>G c.1533T>G (p.Tyr511Ter) c.1914T>G (p.Tyr638Ter) c.1606+186T>G (n.1606+186T>G) c.1656T>G (p.Tyr552Ter) n.2047T>G n.2154T>G n.2014T>G | |
19 | g.11120419T= | CA2322775570 | LDLR | c.2295T= (p.Tyr765=) c.*106T= (n.*106T=) c.1917T= (p.Tyr639=) c.2037T= (p.Tyr679=) c.2291T= c.1533T= (p.Tyr511=) c.1914T= (p.Tyr638=) c.1606+186T= (n.1606+186T=) c.1656T= (p.Tyr552=) n.2047T= n.2154T= n.2014T= | |
19 | g.11120420C>A | CA404093601 | LDLR | c.2296C>A (p.Leu766Met) c.*107C>A (n.*107C>A) c.1918C>A (p.Leu640Met) c.2038C>A (p.Leu680Met) c.2292C>A c.1534C>A (p.Leu512Met) c.1915C>A (p.Leu639Met) c.1606+187C>A (n.1606+187C>A) c.1657C>A (p.Leu553Met) n.2048C>A n.2155C>A n.2015C>A | |
19 | g.11120420C= | CA2322775571 | LDLR | c.2296C= (p.Leu766=) c.*107C= (n.*107C=) c.1918C= (p.Leu640=) c.2038C= (p.Leu680=) c.2292C= c.1534C= (p.Leu512=) c.1915C= (p.Leu639=) c.1606+187C= (n.1606+187C=) c.1657C= (p.Leu553=) n.2048C= n.2155C= n.2015C= | |
19 | g.11120420C>G | CA404093603 | LDLR | c.2296C>G (p.Leu766Val) c.*107C>G (n.*107C>G) c.1918C>G (p.Leu640Val) c.2038C>G (p.Leu680Val) c.2292C>G c.1534C>G (p.Leu512Val) c.1915C>G (p.Leu639Val) c.1606+187C>G (n.1606+187C>G) c.1657C>G (p.Leu553Val) n.2048C>G n.2155C>G n.2015C>G | |
19 | g.11120420C>T | CA038265 | LDLR | c.2296C>T (p.Leu766=) c.*107C>T (n.*107C>T) c.1918C>T (p.Leu640=) c.2038C>T (p.Leu680=) c.2292C>T c.1534C>T (p.Leu512=) c.1915C>T (p.Leu639=) c.1606+187C>T (n.1606+187C>T) c.1657C>T (p.Leu553=) n.2048C>T n.2155C>T n.2015C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120421T>A | CA404093607 | LDLR | c.2297T>A (p.Leu766Gln) c.*108T>A (n.*108T>A) c.1919T>A (p.Leu640Gln) c.2039T>A (p.Leu680Gln) c.2293T>A c.1535T>A (p.Leu512Gln) c.1916T>A (p.Leu639Gln) c.1606+188T>A (n.1606+188T>A) c.1658T>A (p.Leu553Gln) n.2049T>A n.2156T>A n.2016T>A | |
19 | g.11120421T>C | CA404093609 | LDLR | c.2297T>C (p.Leu766Pro) c.*108T>C (n.*108T>C) c.1919T>C (p.Leu640Pro) c.2039T>C (p.Leu680Pro) c.2293T>C c.1535T>C (p.Leu512Pro) c.1916T>C (p.Leu639Pro) c.1606+188T>C (n.1606+188T>C) c.1658T>C (p.Leu553Pro) n.2049T>C n.2156T>C n.2016T>C | ClinVar dbSNP |
19 | g.11120421T>G | CA404093612 | LDLR | c.2297T>G (p.Leu766Arg) c.*108T>G (n.*108T>G) c.1919T>G (p.Leu640Arg) c.2039T>G (p.Leu680Arg) c.2293T>G c.1535T>G (p.Leu512Arg) c.1916T>G (p.Leu639Arg) c.1606+188T>G (n.1606+188T>G) c.1658T>G (p.Leu553Arg) n.2049T>G n.2156T>G n.2016T>G | |
19 | g.11120421T= | CA2322775572 | LDLR | c.2297T= (p.Leu766=) c.*108T= (n.*108T=) c.1919T= (p.Leu640=) c.2039T= (p.Leu680=) c.2293T= c.1535T= (p.Leu512=) c.1916T= (p.Leu639=) c.1606+188T= (n.1606+188T=) c.1658T= (p.Leu553=) n.2049T= n.2156T= n.2016T= | |
19 | g.11120423_11120424del | CA2497030036 | LDLR | c.2299_2300del (p.Cys767ProfsTer?) c.*110_*111del (n.*110_*111del) c.1921_1922del (p.Cys641ProfsTer?) c.2041_2042del (p.Cys681ProfsTer?) c.2295_2296del c.1537_1538del (p.Cys513ProfsTer?) c.1918_1919del (p.Cys640ProfsTer?) c.1606+190_1606+191del (n.1606+190_1606+191del) c.1660_1661del (p.Cys554ProfsTer?) n.2051_2052del n.2158_2159del n.2018_2019del | |
19 | g.11120422G>A | CA505743491 | LDLR | c.2298G>A (p.Leu766=) c.*109G>A (n.*109G>A) c.1920G>A (p.Leu640=) c.2040G>A (p.Leu680=) c.2294G>A c.1536G>A (p.Leu512=) c.1917G>A (p.Leu639=) c.1606+189G>A (n.1606+189G>A) c.1659G>A (p.Leu553=) n.2050G>A n.2157G>A n.2017G>A | |
19 | g.11120422G>C | CA038280 | LDLR | c.2298G>C (p.Leu766=) c.*109G>C (n.*109G>C) c.1920G>C (p.Leu640=) c.2040G>C (p.Leu680=) c.2294G>C c.1536G>C (p.Leu512=) c.1917G>C (p.Leu639=) c.1606+189G>C (n.1606+189G>C) c.1659G>C (p.Leu553=) n.2050G>C n.2157G>C n.2017G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120422G= | CA2322775573 | LDLR | c.2298G= (p.Leu766=) c.*109G= (n.*109G=) c.1920G= (p.Leu640=) c.2040G= (p.Leu680=) c.2294G= c.1536G= (p.Leu512=) c.1917G= (p.Leu639=) c.1606+189G= (n.1606+189G=) c.1659G= (p.Leu553=) n.2050G= n.2157G= n.2017G= | |
19 | g.11120422G>T | CA505743492 | LDLR | c.2298G>T (p.Leu766=) c.*109G>T (n.*109G>T) c.1920G>T (p.Leu640=) c.2040G>T (p.Leu680=) c.2294G>T c.1536G>T (p.Leu512=) c.1917G>T (p.Leu639=) c.1606+189G>T (n.1606+189G>T) c.1659G>T (p.Leu553=) n.2050G>T n.2157G>T n.2017G>T | |
19 | g.11120423T>A | CA10585739 | LDLR | c.2299T>A (p.Cys767Ser) c.*110T>A (n.*110T>A) c.1921T>A (p.Cys641Ser) c.2041T>A (p.Cys681Ser) c.2295T>A c.1537T>A (p.Cys513Ser) c.1918T>A (p.Cys640Ser) c.1606+190T>A (n.1606+190T>A) c.1660T>A (p.Cys554Ser) n.2051T>A n.2158T>A n.2018T>A | ClinVar dbSNP |
19 | g.11120423T>C | CA404093616 | LDLR | c.2299T>C (p.Cys767Arg) c.*110T>C (n.*110T>C) c.1921T>C (p.Cys641Arg) c.2041T>C (p.Cys681Arg) c.2295T>C c.1537T>C (p.Cys513Arg) c.1918T>C (p.Cys640Arg) c.1606+190T>C (n.1606+190T>C) c.1660T>C (p.Cys554Arg) n.2051T>C n.2158T>C n.2018T>C | |
19 | g.11120423T>G | CA10585740 | LDLR | c.2299T>G (p.Cys767Gly) c.*110T>G (n.*110T>G) c.1921T>G (p.Cys641Gly) c.2041T>G (p.Cys681Gly) c.2295T>G c.1537T>G (p.Cys513Gly) c.1918T>G (p.Cys640Gly) c.1606+190T>G (n.1606+190T>G) c.1660T>G (p.Cys554Gly) n.2051T>G n.2158T>G n.2018T>G | ClinVar dbSNP |
19 | g.11120423T= | CA2322775574 | LDLR | c.2299T= (p.Cys767=) c.*110T= (n.*110T=) c.1921T= (p.Cys641=) c.2041T= (p.Cys681=) c.2295T= c.1537T= (p.Cys513=) c.1918T= (p.Cys640=) c.1606+190T= (n.1606+190T=) c.1660T= (p.Cys554=) n.2051T= n.2158T= n.2018T= | |
19 | g.11120427_11120434del | CA2695228172 | LDLR | c.2303_2310del (p.Leu768ProfsTer?) c.*114_*121del (n.*114_*121del) c.1925_1932del (p.Leu642ProfsTer?) c.2045_2052del (p.Leu682ProfsTer?) c.2299_2306del c.1541_1548del (p.Leu514ProfsTer?) c.1922_1929del (p.Leu641ProfsTer?) c.1606+194_1606+201del (n.1606+194_1606+201del) c.1664_1671del (p.Leu555ProfsTer?) n.2055_2062del n.2162_2169del n.2022_2029del | |
19 | g.11120424G>A | CA10585741 | LDLR | c.2300G>A (p.Cys767Tyr) c.*111G>A (n.*111G>A) c.1922G>A (p.Cys641Tyr) c.2042G>A (p.Cys681Tyr) c.2296G>A c.1538G>A (p.Cys513Tyr) c.1919G>A (p.Cys640Tyr) c.1606+191G>A (n.1606+191G>A) c.1661G>A (p.Cys554Tyr) n.2052G>A n.2159G>A n.2019G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120424G>C | CA10585742 | LDLR | c.2300G>C (p.Cys767Ser) c.*111G>C (n.*111G>C) c.1922G>C (p.Cys641Ser) c.2042G>C (p.Cys681Ser) c.2296G>C c.1538G>C (p.Cys513Ser) c.1919G>C (p.Cys640Ser) c.1606+191G>C (n.1606+191G>C) c.1661G>C (p.Cys554Ser) n.2052G>C n.2159G>C n.2019G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11120424G= | CA2322775575 | LDLR | c.2300G= (p.Cys767=) c.*111G= (n.*111G=) c.1922G= (p.Cys641=) c.2042G= (p.Cys681=) c.2296G= c.1538G= (p.Cys513=) c.1919G= (p.Cys640=) c.1606+191G= (n.1606+191G=) c.1661G= (p.Cys554=) n.2052G= n.2159G= n.2019G= | |
19 | g.11120424G>T | CA404093624 | LDLR | c.2300G>T (p.Cys767Phe) c.*111G>T (n.*111G>T) c.1922G>T (p.Cys641Phe) c.2042G>T (p.Cys681Phe) c.2296G>T c.1538G>T (p.Cys513Phe) c.1919G>T (p.Cys640Phe) c.1606+191G>T (n.1606+191G>T) c.1661G>T (p.Cys554Phe) n.2052G>T n.2159G>T n.2019G>T | |
19 | g.11120424_11120428delinsGCCTC | CA2322775576 | LDLR | c.2300_2304delinsGCCTC (p.Cys767=) c.*111_*115delinsGCCTC (n.*111_*115delinsGCCTC) c.1922_1926delinsGCCTC (p.Cys641=) c.2042_2046delinsGCCTC (p.Cys681=) c.2296_2300delinsGCCTC c.1538_1542delinsGCCTC (p.Cys513=) c.1919_1923delinsGCCTC (p.Cys640=) c.1606+191_1606+195delinsGCCTC (n.1606+191_1606+195delinsGCCTC) c.1661_1665delinsGCCTC (p.Cys554=) n.2052_2056delinsGCCTC n.2159_2163delinsGCCTC n.2019_2023delinsGCCTC | |
19 | g.11120425C>A | CA023623 | LDLR | c.2301C>A (p.Cys767Ter) c.*112C>A (n.*112C>A) c.1923C>A (p.Cys641Ter) c.2043C>A (p.Cys681Ter) c.2297C>A c.1539C>A (p.Cys513Ter) c.1920C>A (p.Cys640Ter) c.1606+192C>A (n.1606+192C>A) c.1662C>A (p.Cys554Ter) n.2053C>A n.2160C>A n.2020C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120425C= | CA2322775577 | LDLR | c.2301C= (p.Cys767=) c.*112C= (n.*112C=) c.1923C= (p.Cys641=) c.2043C= (p.Cys681=) c.2297C= c.1539C= (p.Cys513=) c.1920C= (p.Cys640=) c.1606+192C= (n.1606+192C=) c.1662C= (p.Cys554=) n.2053C= n.2160C= n.2020C= | |
19 | g.11120425C>G | CA10585743 | LDLR | c.2301C>G (p.Cys767Trp) c.*112C>G (n.*112C>G) c.1923C>G (p.Cys641Trp) c.2043C>G (p.Cys681Trp) c.2297C>G c.1539C>G (p.Cys513Trp) c.1920C>G (p.Cys640Trp) c.1606+192C>G (n.1606+192C>G) c.1662C>G (p.Cys554Trp) n.2053C>G n.2160C>G n.2020C>G | ClinVar dbSNP |
19 | g.11120425C>T | CA505743493 | LDLR | c.2301C>T (p.Cys767=) c.*112C>T (n.*112C>T) c.1923C>T (p.Cys641=) c.2043C>T (p.Cys681=) c.2297C>T c.1539C>T (p.Cys513=) c.1920C>T (p.Cys640=) c.1606+192C>T (n.1606+192C>T) c.1662C>T (p.Cys554=) n.2053C>T n.2160C>T n.2020C>T | |
19 | g.11120426del | CA2830773956 | LDLR | c.2302del (p.Leu768SerfsTer27) c.*113del (n.*113del) c.1924del (p.Leu642SerfsTer27) c.2044del (p.Leu682SerfsTer27) c.2298del c.1540del (p.Leu514SerfsTer27) c.1921del (p.Leu641SerfsTer27) c.1606+193del (n.1606+193del) c.1663del (p.Leu555SerfsTer27) n.2054del n.2161del n.2021del | |
19 | g.11120428_11120431del | CA10585745 | LDLR | c.2304_2307del (p.Ala770ArgfsTer24) c.*115_*118del (n.*115_*118del) c.1926_1929del (p.Ala644ArgfsTer24) c.2046_2049del (p.Ala684ArgfsTer24) c.2300_2303del c.1542_1545del (p.Ala516ArgfsTer24) c.1923_1926del (p.Ala643ArgfsTer24) c.1606+195_1606+198del (n.1606+195_1606+198del) c.1665_1668del (p.Ala557ArgfsTer24) n.2056_2059del n.2163_2166del n.2023_2026del | ClinVar dbSNP |
19 | g.11120426C>A | CA404093632 | LDLR | c.2302C>A (p.Leu768Ile) c.*113C>A (n.*113C>A) c.1924C>A (p.Leu642Ile) c.2044C>A (p.Leu682Ile) c.2298C>A c.1540C>A (p.Leu514Ile) c.1921C>A (p.Leu641Ile) c.1606+193C>A (n.1606+193C>A) c.1663C>A (p.Leu555Ile) n.2054C>A n.2161C>A n.2021C>A | |
19 | g.11120426C= | CA2322775578 | LDLR | c.2302C= (p.Leu768=) c.*113C= (n.*113C=) c.1924C= (p.Leu642=) c.2044C= (p.Leu682=) c.2298C= c.1540C= (p.Leu514=) c.1921C= (p.Leu641=) c.1606+193C= (n.1606+193C=) c.1663C= (p.Leu555=) n.2054C= n.2161C= n.2021C= | |
19 | g.11120426C>G | CA404093634 | LDLR | c.2302C>G (p.Leu768Val) c.*113C>G (n.*113C>G) c.1924C>G (p.Leu642Val) c.2044C>G (p.Leu682Val) c.2298C>G c.1540C>G (p.Leu514Val) c.1921C>G (p.Leu641Val) c.1606+193C>G (n.1606+193C>G) c.1663C>G (p.Leu555Val) n.2054C>G n.2161C>G n.2021C>G | |
19 | g.11120426C>T | CA404093636 | LDLR | c.2302C>T (p.Leu768Phe) c.*113C>T (n.*113C>T) c.1924C>T (p.Leu642Phe) c.2044C>T (p.Leu682Phe) c.2298C>T c.1540C>T (p.Leu514Phe) c.1921C>T (p.Leu641Phe) c.1606+193C>T (n.1606+193C>T) c.1663C>T (p.Leu555Phe) n.2054C>T n.2161C>T n.2021C>T | ClinVar dbSNP |
19 | g.11120427T>A | CA404093639 | LDLR | c.2303T>A (p.Leu768His) c.*114T>A (n.*114T>A) c.1925T>A (p.Leu642His) c.2045T>A (p.Leu682His) c.2299T>A c.1541T>A (p.Leu514His) c.1922T>A (p.Leu641His) c.1606+194T>A (n.1606+194T>A) c.1664T>A (p.Leu555His) n.2055T>A n.2162T>A n.2022T>A | |
19 | g.11120427T>C | CA10585744 | LDLR | c.2303T>C (p.Leu768Pro) c.*114T>C (n.*114T>C) c.1925T>C (p.Leu642Pro) c.2045T>C (p.Leu682Pro) c.2299T>C c.1541T>C (p.Leu514Pro) c.1922T>C (p.Leu641Pro) c.1606+194T>C (n.1606+194T>C) c.1664T>C (p.Leu555Pro) n.2055T>C n.2162T>C n.2022T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11120427T>G | CA404093642 | LDLR | c.2303T>G (p.Leu768Arg) c.*114T>G (n.*114T>G) c.1925T>G (p.Leu642Arg) c.2045T>G (p.Leu682Arg) c.2299T>G c.1541T>G (p.Leu514Arg) c.1922T>G (p.Leu641Arg) c.1606+194T>G (n.1606+194T>G) c.1664T>G (p.Leu555Arg) n.2055T>G n.2162T>G n.2022T>G | ClinVar dbSNP |
19 | g.11120427T= | CA2322775579 | LDLR | c.2303T= (p.Leu768=) c.*114T= (n.*114T=) c.1925T= (p.Leu642=) c.2045T= (p.Leu682=) c.2299T= c.1541T= (p.Leu514=) c.1922T= (p.Leu641=) c.1606+194T= (n.1606+194T=) c.1664T= (p.Leu555=) n.2055T= n.2162T= n.2022T= | |
19 | g.11120428C>A | CA505743496 | LDLR | c.2304C>A (p.Leu768=) c.*115C>A (n.*115C>A) c.1926C>A (p.Leu642=) c.2046C>A (p.Leu682=) c.2300C>A c.1542C>A (p.Leu514=) c.1923C>A (p.Leu641=) c.1606+195C>A (n.1606+195C>A) c.1665C>A (p.Leu555=) n.2056C>A n.2163C>A n.2023C>A | |
19 | g.11120428C>G | CA505743495 | LDLR | c.2304C>G (p.Leu768=) c.*115C>G (n.*115C>G) c.1926C>G (p.Leu642=) c.2046C>G (p.Leu682=) c.2300C>G c.1542C>G (p.Leu514=) c.1923C>G (p.Leu641=) c.1606+195C>G (n.1606+195C>G) c.1665C>G (p.Leu555=) n.2056C>G n.2163C>G n.2023C>G | |
19 | g.11120428C>T | CA505743497 | LDLR | c.2304C>T (p.Leu768=) c.*115C>T (n.*115C>T) c.1926C>T (p.Leu642=) c.2046C>T (p.Leu682=) c.2300C>T c.1542C>T (p.Leu514=) c.1923C>T (p.Leu641=) c.1606+195C>T (n.1606+195C>T) c.1665C>T (p.Leu555=) n.2056C>T n.2163C>T n.2023C>T | ClinVar gnomAD v4 |
19 | g.11120430del | CA2830763875 | LDLR | c.2306del (p.Pro769LeufsTer26) c.*117del (n.*117del) c.1928del (p.Pro643LeufsTer26) c.2048del (p.Pro683LeufsTer26) c.2302del c.1544del (p.Pro515LeufsTer26) c.1925del (p.Pro642LeufsTer26) c.1606+197del (n.1606+197del) c.1667del (p.Pro556LeufsTer26) n.2058del n.2165del n.2025del | |
19 | g.11120429C>A | CA404093647 | LDLR | c.2305C>A (p.Pro769Thr) c.*116C>A (n.*116C>A) c.1927C>A (p.Pro643Thr) c.2047C>A (p.Pro683Thr) c.2301C>A c.1543C>A (p.Pro515Thr) c.1924C>A (p.Pro642Thr) c.1606+196C>A (n.1606+196C>A) c.1666C>A (p.Pro556Thr) n.2057C>A n.2164C>A n.2024C>A | |
19 | g.11120429C>G | CA404093646 | LDLR | c.2305C>G (p.Pro769Ala) c.*116C>G (n.*116C>G) c.1927C>G (p.Pro643Ala) c.2047C>G (p.Pro683Ala) c.2301C>G c.1543C>G (p.Pro515Ala) c.1924C>G (p.Pro642Ala) c.1606+196C>G (n.1606+196C>G) c.1666C>G (p.Pro556Ala) n.2057C>G n.2164C>G n.2024C>G | |
19 | g.11120429C>T | CA404093644 | LDLR | c.2305C>T (p.Pro769Ser) c.*116C>T (n.*116C>T) c.1927C>T (p.Pro643Ser) c.2047C>T (p.Pro683Ser) c.2301C>T c.1543C>T (p.Pro515Ser) c.1924C>T (p.Pro642Ser) c.1606+196C>T (n.1606+196C>T) c.1666C>T (p.Pro556Ser) n.2057C>T n.2164C>T n.2024C>T | |
19 | g.11120430C>A | CA404093649 | LDLR | c.2306C>A (p.Pro769His) c.*117C>A (n.*117C>A) c.1928C>A (p.Pro643His) c.2048C>A (p.Pro683His) c.2302C>A c.1544C>A (p.Pro515His) c.1925C>A (p.Pro642His) c.1606+197C>A (n.1606+197C>A) c.1667C>A (p.Pro556His) n.2058C>A n.2165C>A n.2025C>A | |
19 | g.11120430C= | CA2322775580 | LDLR | c.2306C= (p.Pro769=) c.*117C= (n.*117C=) c.1928C= (p.Pro643=) c.2048C= (p.Pro683=) c.2302C= c.1544C= (p.Pro515=) c.1925C= (p.Pro642=) c.1606+197C= (n.1606+197C=) c.1667C= (p.Pro556=) n.2058C= n.2165C= n.2025C= | |
19 | g.11120430C>G | CA404093652 | LDLR | c.2306C>G (p.Pro769Arg) c.*117C>G (n.*117C>G) c.1928C>G (p.Pro643Arg) c.2048C>G (p.Pro683Arg) c.2302C>G c.1544C>G (p.Pro515Arg) c.1925C>G (p.Pro642Arg) c.1606+197C>G (n.1606+197C>G) c.1667C>G (p.Pro556Arg) n.2058C>G n.2165C>G n.2025C>G | |
19 | g.11120430C>T | CA038297 | LDLR | c.2306C>T (p.Pro769Leu) c.*117C>T (n.*117C>T) c.1928C>T (p.Pro643Leu) c.2048C>T (p.Pro683Leu) c.2302C>T c.1544C>T (p.Pro515Leu) c.1925C>T (p.Pro642Leu) c.1606+197C>T (n.1606+197C>T) c.1667C>T (p.Pro556Leu) n.2058C>T n.2165C>T n.2025C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120431T>A | CA505743498 | LDLR | c.2307T>A (p.Pro769=) c.*118T>A (n.*118T>A) c.1929T>A (p.Pro643=) c.2049T>A (p.Pro683=) c.2303T>A c.1545T>A (p.Pro515=) c.1926T>A (p.Pro642=) c.1606+198T>A (n.1606+198T>A) c.1668T>A (p.Pro556=) n.2059T>A n.2166T>A n.2026T>A | |
19 | g.11120431T>C | CA505743499 | LDLR | c.2307T>C (p.Pro769=) c.*118T>C (n.*118T>C) c.1929T>C (p.Pro643=) c.2049T>C (p.Pro683=) c.2303T>C c.1545T>C (p.Pro515=) c.1926T>C (p.Pro642=) c.1606+198T>C (n.1606+198T>C) c.1668T>C (p.Pro556=) n.2059T>C n.2166T>C n.2026T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120431T>G | CA505743500 | LDLR | c.2307T>G (p.Pro769=) c.*118T>G (n.*118T>G) c.1929T>G (p.Pro643=) c.2049T>G (p.Pro683=) c.2303T>G c.1545T>G (p.Pro515=) c.1926T>G (p.Pro642=) c.1606+198T>G (n.1606+198T>G) c.1668T>G (p.Pro556=) n.2059T>G n.2166T>G n.2026T>G | ClinVar gnomAD v4 |
19 | g.11120431T= | CA2322775582 | LDLR | c.2307T= (p.Pro769=) c.*118T= (n.*118T=) c.1929T= (p.Pro643=) c.2049T= (p.Pro683=) c.2303T= c.1545T= (p.Pro515=) c.1926T= (p.Pro642=) c.1606+198T= (n.1606+198T=) c.1668T= (p.Pro556=) n.2059T= n.2166T= n.2026T= | |
19 | g.11120431_11120432delinsTG | CA2322775583 | LDLR | c.2307_2308delinsTG (p.Pro769=) c.*118_*119delinsTG (n.*118_*119delinsTG) c.1929_1930delinsTG (p.Pro643=) c.2049_2050delinsTG (p.Pro683=) c.2303_2304delinsTG c.1545_1546delinsTG (p.Pro515=) c.1926_1927delinsTG (p.Pro642=) c.1606+198_1606+199delinsTG (n.1606+198_1606+199delinsTG) c.1668_1669delinsTG (p.Pro556=) n.2059_2060delinsTG n.2166_2167delinsTG n.2026_2027delinsTG | |
19 | g.11120431_11120445delinsTGCCCCGCAGATCAA | CA2322775581 | LDLR | c.2307_2321delinsTGCCCCGCAGATCAA (p.Pro769=) c.*118_*132delinsTGCCCCGCAGATCAA (n.*118_*132delinsTGCCCCGCAGATCAA) c.1929_1943delinsTGCCCCGCAGATCAA (p.Pro643=) c.2049_2063delinsTGCCCCGCAGATCAA (p.Pro683=) c.2303_2317delinsTGCCCCGCAGATCAA c.1545_1559delinsTGCCCCGCAGATCAA (p.Pro515=) c.1926_1940delinsTGCCCCGCAGATCAA (p.Pro642=) c.1606+198_1606+212delinsTGCCCCGCAGATCAA (n.1606+198_1606+212delinsTGCCCCGCAGATCAA) c.1668_1682delinsTGCCCCGCAGATCAA (p.Pro556=) n.2059_2073delinsTGCCCCGCAGATCAA n.2166_2180delinsTGCCCCGCAGATCAA n.2026_2040delinsTGCCCCGCAGATCAA | |
19 | g.11120432del | CA645509289 | LDLR | c.2308del (p.Ala770ProfsTer25) c.*119del (n.*119del) c.1930del (p.Ala644ProfsTer25) c.2050del (p.Ala684ProfsTer25) c.2304del c.1546del (p.Ala516ProfsTer25) c.1927del (p.Ala643ProfsTer25) c.1606+199del (n.1606+199del) c.1669del (p.Ala557ProfsTer25) n.2060del n.2167del n.2027del | ClinVar dbSNP |
19 | g.11120432G>A | CA038311 | LDLR | c.2308G>A (p.Ala770Thr) c.*119G>A (n.*119G>A) c.1930G>A (p.Ala644Thr) c.2050G>A (p.Ala684Thr) c.2304G>A c.1546G>A (p.Ala516Thr) c.1927G>A (p.Ala643Thr) c.1606+199G>A (n.1606+199G>A) c.1669G>A (p.Ala557Thr) n.2060G>A n.2167G>A n.2027G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120432G>C | CA404093661 | LDLR | c.2308G>C (p.Ala770Pro) c.*119G>C (n.*119G>C) c.1930G>C (p.Ala644Pro) c.2050G>C (p.Ala684Pro) c.2304G>C c.1546G>C (p.Ala516Pro) c.1927G>C (p.Ala643Pro) c.1606+199G>C (n.1606+199G>C) c.1669G>C (p.Ala557Pro) n.2060G>C n.2167G>C n.2027G>C | |
19 | g.11120432G= | CA2322775587 | LDLR | c.2308G= (p.Ala770=) c.*119G= (n.*119G=) c.1930G= (p.Ala644=) c.2050G= (p.Ala684=) c.2304G= c.1546G= (p.Ala516=) c.1927G= (p.Ala643=) c.1606+199G= (n.1606+199G=) c.1669G= (p.Ala557=) n.2060G= n.2167G= n.2027G= | |
19 | g.11120432G>T | CA404093662 | LDLR | c.2308G>T (p.Ala770Ser) c.*119G>T (n.*119G>T) c.1930G>T (p.Ala644Ser) c.2050G>T (p.Ala684Ser) c.2304G>T c.1546G>T (p.Ala516Ser) c.1927G>T (p.Ala643Ser) c.1606+199G>T (n.1606+199G>T) c.1669G>T (p.Ala557Ser) n.2060G>T n.2167G>T n.2027G>T | |
19 | g.11120432_11120433delinsGC | CA2322775586 | LDLR | c.2308_2309delinsGC (p.Ala770=) c.*119_*120delinsGC (n.*119_*120delinsGC) c.1930_1931delinsGC (p.Ala644=) c.2050_2051delinsGC (p.Ala684=) c.2304_2305delinsGC c.1546_1547delinsGC (p.Ala516=) c.1927_1928delinsGC (p.Ala643=) c.1606+199_1606+200delinsGC (n.1606+199_1606+200delinsGC) c.1669_1670delinsGC (p.Ala557=) n.2060_2061delinsGC n.2167_2168delinsGC n.2027_2028delinsGC | |
19 | g.11120432_11120445del | CA10585746 | LDLR | c.2308_2321del (p.Ala770ProfsTer28) c.*119_*132del (n.*119_*132del) c.1930_1943del (p.Ala644ProfsTer28) c.2050_2063del (p.Ala684ProfsTer28) c.2304_2317del c.1546_1559del (p.Ala516ProfsTer28) c.1927_1940del (p.Ala643ProfsTer28) c.1606+199_1606+212del (n.1606+199_1606+212del) c.1669_1682del (p.Ala557ProfsTer28) n.2060_2073del n.2167_2180del n.2027_2040del | ClinVar dbSNP |
19 | g.11120432_11120445delinsC | CA645509288 | LDLR | c.2308_2321delinsC (p.Ala770ProfsTer21) c.*119_*132delinsC (n.*119_*132delinsC) c.1930_1943delinsC (p.Ala644ProfsTer21) c.2050_2063delinsC (p.Ala684ProfsTer21) c.2304_2317delinsC c.1546_1559delinsC (p.Ala516ProfsTer21) c.1927_1940delinsC (p.Ala643ProfsTer21) c.1606+199_1606+212delinsC (n.1606+199_1606+212delinsC) c.1669_1682delinsC (p.Ala557ProfsTer21) n.2060_2073delinsC n.2167_2180delinsC n.2027_2040delinsC | ClinVar dbSNP |
19 | g.11120432_11120445delinsGCCCCGCAGATCAA | CA2322775585 | LDLR | c.2308_2321delinsGCCCCGCAGATCAA (p.Ala770=) c.*119_*132delinsGCCCCGCAGATCAA (n.*119_*132delinsGCCCCGCAGATCAA) c.1930_1943delinsGCCCCGCAGATCAA (p.Ala644=) c.2050_2063delinsGCCCCGCAGATCAA (p.Ala684=) c.2304_2317delinsGCCCCGCAGATCAA c.1546_1559delinsGCCCCGCAGATCAA (p.Ala516=) c.1927_1940delinsGCCCCGCAGATCAA (p.Ala643=) c.1606+199_1606+212delinsGCCCCGCAGATCAA (n.1606+199_1606+212delinsGCCCCGCAGATCAA) c.1669_1682delinsGCCCCGCAGATCAA (p.Ala557=) n.2060_2073delinsGCCCCGCAGATCAA n.2167_2180delinsGCCCCGCAGATCAA n.2027_2040delinsGCCCCGCAGATCAA | |
19 | g.11120432_11120446delinsGCCCCGCAGATCAAC | CA2322775584 | LDLR | c.2308_2322delinsGCCCCGCAGATCAAC (p.Ala770=) c.*119_*133delinsGCCCCGCAGATCAAC (n.*119_*133delinsGCCCCGCAGATCAAC) c.1930_1944delinsGCCCCGCAGATCAAC (p.Ala644=) c.2050_2064delinsGCCCCGCAGATCAAC (p.Ala684=) c.2304_2318delinsGCCCCGCAGATCAAC c.1546_1560delinsGCCCCGCAGATCAAC (p.Ala516=) c.1927_1941delinsGCCCCGCAGATCAAC (p.Ala643=) c.1606+199_1606+213delinsGCCCCGCAGATCAAC (n.1606+199_1606+213delinsGCCCCGCAGATCAAC) c.1669_1683delinsGCCCCGCAGATCAAC (p.Ala557=) n.2060_2074delinsGCCCCGCAGATCAAC n.2167_2181delinsGCCCCGCAGATCAAC n.2027_2041delinsGCCCCGCAGATCAAC | |
19 | g.11120433C>A | CA404093670 | LDLR | c.2309C>A (p.Ala770Asp) c.*120C>A (n.*120C>A) c.1931C>A (p.Ala644Asp) c.2051C>A (p.Ala684Asp) c.2305C>A c.1547C>A (p.Ala516Asp) c.1928C>A (p.Ala643Asp) c.1606+200C>A (n.1606+200C>A) c.1670C>A (p.Ala557Asp) n.2061C>A n.2168C>A n.2028C>A | |
19 | g.11120433C= | CA2322775588 | LDLR | c.2309C= (p.Ala770=) c.*120C= (n.*120C=) c.1931C= (p.Ala644=) c.2051C= (p.Ala684=) c.2305C= c.1547C= (p.Ala516=) c.1928C= (p.Ala643=) c.1606+200C= (n.1606+200C=) c.1670C= (p.Ala557=) n.2061C= n.2168C= n.2028C= | |
19 | g.11120433C>G | CA404093671 | LDLR | c.2309C>G (p.Ala770Gly) c.*120C>G (n.*120C>G) c.1931C>G (p.Ala644Gly) c.2051C>G (p.Ala684Gly) c.2305C>G c.1547C>G (p.Ala516Gly) c.1928C>G (p.Ala643Gly) c.1606+200C>G (n.1606+200C>G) c.1670C>G (p.Ala557Gly) n.2061C>G n.2168C>G n.2028C>G | |
19 | g.11120433C>T | CA404093668 | LDLR | c.2309C>T (p.Ala770Val) c.*120C>T (n.*120C>T) c.1931C>T (p.Ala644Val) c.2051C>T (p.Ala684Val) c.2305C>T c.1547C>T (p.Ala516Val) c.1928C>T (p.Ala643Val) c.1606+200C>T (n.1606+200C>T) c.1670C>T (p.Ala557Val) n.2061C>T n.2168C>T n.2028C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120436dup | CA2497030099 | LDLR | c.2312dup (p.Gln772AlafsTer?) c.*123dup (n.*123dup) c.1934dup (p.Gln646AlafsTer?) c.2054dup (p.Gln686AlafsTer?) c.2308dup c.1550dup (p.Gln518AlafsTer?) c.1931dup (p.Gln645AlafsTer?) c.1606+203dup (n.1606+203dup) c.1673dup (p.Gln559AlafsTer?) n.2064dup n.2171dup n.2031dup | |
19 | g.11120436del | CA10585749 | LDLR | c.2312del (p.Pro771ArgfsTer24) c.*123del (n.*123del) c.1934del (p.Pro645ArgfsTer24) c.2054del (p.Pro685ArgfsTer24) c.2308del c.1550del (p.Pro517ArgfsTer24) c.1931del (p.Pro644ArgfsTer24) c.1606+203del (n.1606+203del) c.1673del (p.Pro558ArgfsTer24) n.2064del n.2171del n.2031del | ClinVar dbSNP |
19 | g.11120437_11120449del | CA10585750 | LDLR | c.2313_2325del (p.Gln772ThrfsTer19) c.*124_*136del (n.*124_*136del) c.1935_1947del (p.Gln646ThrfsTer19) c.2055_2067del (p.Gln686ThrfsTer19) c.2309_2321del c.1551_1563del (p.Gln518ThrfsTer19) c.1932_1944del (p.Gln645ThrfsTer19) c.1606+204_1606+216del (n.1606+204_1606+216del) c.1674_1686del (p.Gln559ThrfsTer19) n.2065_2077del n.2172_2184del n.2032_2044del | ClinVar dbSNP |
19 | g.11120437_11120450del | CA1139666277 | LDLR | c.2313_2326del (p.Gln772LeufsTer26) c.*124_*137del (n.*124_*137del) c.1935_1948del (p.Gln646LeufsTer26) c.2055_2068del (p.Gln686LeufsTer26) c.2309_2322del c.1551_1564del (p.Gln518LeufsTer26) c.1932_1945del (p.Gln645LeufsTer26) c.1606+204_1606+217del (n.1606+204_1606+217del) c.1674_1687del (p.Gln559LeufsTer26) n.2065_2078del n.2172_2185del n.2032_2045del | ClinVar dbSNP |
19 | g.11120434C>A | CA505486523 | LDLR | c.2310C>A (p.Ala770=) c.*121C>A (n.*121C>A) c.1932C>A (p.Ala644=) c.2052C>A (p.Ala684=) c.2306C>A c.1548C>A (p.Ala516=) c.1929C>A (p.Ala643=) c.1606+201C>A (n.1606+201C>A) c.1671C>A (p.Ala557=) n.2062C>A n.2169C>A n.2029C>A | |
19 | g.11120434C= | CA2322775589 | LDLR | c.2310C= (p.Ala770=) c.*121C= (n.*121C=) c.1932C= (p.Ala644=) c.2052C= (p.Ala684=) c.2306C= c.1548C= (p.Ala516=) c.1929C= (p.Ala643=) c.1606+201C= (n.1606+201C=) c.1671C= (p.Ala557=) n.2062C= n.2169C= n.2029C= | |
19 | g.11120434C>G | CA505486525 | LDLR | c.2310C>G (p.Ala770=) c.*121C>G (n.*121C>G) c.1932C>G (p.Ala644=) c.2052C>G (p.Ala684=) c.2306C>G c.1548C>G (p.Ala516=) c.1929C>G (p.Ala643=) c.1606+201C>G (n.1606+201C>G) c.1671C>G (p.Ala557=) n.2062C>G n.2169C>G n.2029C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11120434C>T | CA038330 | LDLR | c.2310C>T (p.Ala770=) c.*121C>T (n.*121C>T) c.1932C>T (p.Ala644=) c.2052C>T (p.Ala684=) c.2306C>T c.1548C>T (p.Ala516=) c.1929C>T (p.Ala643=) c.1606+201C>T (n.1606+201C>T) c.1671C>T (p.Ala557=) n.2062C>T n.2169C>T n.2029C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120435C>A | CA10585747 | LDLR | c.2311C>A (p.Pro771Thr) c.*122C>A (n.*122C>A) c.1933C>A (p.Pro645Thr) c.2053C>A (p.Pro685Thr) c.2307C>A c.1549C>A (p.Pro517Thr) c.1930C>A (p.Pro644Thr) c.1606+202C>A (n.1606+202C>A) c.1672C>A (p.Pro558Thr) n.2063C>A n.2170C>A n.2030C>A | ClinVar dbSNP |
19 | g.11120435C= | CA2322775590 | LDLR | c.2311C= (p.Pro771=) c.*122C= (n.*122C=) c.1933C= (p.Pro645=) c.2053C= (p.Pro685=) c.2307C= c.1549C= (p.Pro517=) c.1930C= (p.Pro644=) c.1606+202C= (n.1606+202C=) c.1672C= (p.Pro558=) n.2063C= n.2170C= n.2030C= | |
19 | g.11120435C>G | CA404093677 | LDLR | c.2311C>G (p.Pro771Ala) c.*122C>G (n.*122C>G) c.1933C>G (p.Pro645Ala) c.2053C>G (p.Pro685Ala) c.2307C>G c.1549C>G (p.Pro517Ala) c.1930C>G (p.Pro644Ala) c.1606+202C>G (n.1606+202C>G) c.1672C>G (p.Pro558Ala) n.2063C>G n.2170C>G n.2030C>G | |
19 | g.11120435C>T | CA10585748 | LDLR | c.2311C>T (p.Pro771Ser) c.*122C>T (n.*122C>T) c.1933C>T (p.Pro645Ser) c.2053C>T (p.Pro685Ser) c.2307C>T c.1549C>T (p.Pro517Ser) c.1930C>T (p.Pro644Ser) c.1606+202C>T (n.1606+202C>T) c.1672C>T (p.Pro558Ser) n.2063C>T n.2170C>T n.2030C>T | ClinVar dbSNP |
19 | g.11120436C>A | CA404093679 | LDLR | c.2312C>A (p.Pro771Gln) c.*123C>A (n.*123C>A) c.1934C>A (p.Pro645Gln) c.2054C>A (p.Pro685Gln) c.2308C>A c.1550C>A (p.Pro517Gln) c.1931C>A (p.Pro644Gln) c.1606+203C>A (n.1606+203C>A) c.1673C>A (p.Pro558Gln) n.2064C>A n.2171C>A n.2031C>A | ClinVar dbSNP |
19 | g.11120436C= | CA2322775592 | LDLR | c.2312C= (p.Pro771=) c.*123C= (n.*123C=) c.1934C= (p.Pro645=) c.2054C= (p.Pro685=) c.2308C= c.1550C= (p.Pro517=) c.1931C= (p.Pro644=) c.1606+203C= (n.1606+203C=) c.1673C= (p.Pro558=) n.2064C= n.2171C= n.2031C= | |
19 | g.11120436C>G | CA404093683 | LDLR | c.2312C>G (p.Pro771Arg) c.*123C>G (n.*123C>G) c.1934C>G (p.Pro645Arg) c.2054C>G (p.Pro685Arg) c.2308C>G c.1550C>G (p.Pro517Arg) c.1931C>G (p.Pro644Arg) c.1606+203C>G (n.1606+203C>G) c.1673C>G (p.Pro558Arg) n.2064C>G n.2171C>G n.2031C>G | ClinVar |
19 | g.11120436C>T | CA023628 | LDLR | c.2312C>T (p.Pro771Leu) c.*123C>T (n.*123C>T) c.1934C>T (p.Pro645Leu) c.2054C>T (p.Pro685Leu) c.2308C>T c.1550C>T (p.Pro517Leu) c.1931C>T (p.Pro644Leu) c.1606+203C>T (n.1606+203C>T) c.1673C>T (p.Pro558Leu) n.2064C>T n.2171C>T n.2031C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120436_11120437delinsCG | CA2322775591 | LDLR | c.2312_2313delinsCG (p.Pro771=) c.*123_*124delinsCG (n.*123_*124delinsCG) c.1934_1935delinsCG (p.Pro645=) c.2054_2055delinsCG (p.Pro685=) c.2308_2309delinsCG c.1550_1551delinsCG (p.Pro517=) c.1931_1932delinsCG (p.Pro644=) c.1606+203_1606+204delinsCG (n.1606+203_1606+204delinsCG) c.1673_1674delinsCG (p.Pro558=) n.2064_2065delinsCG n.2171_2172delinsCG n.2031_2032delinsCG | |
19 | g.11120437del | CA10585751 | LDLR | c.2313del (p.Gln772ArgfsTer23) c.*124del (n.*124del) c.1935del (p.Gln646ArgfsTer23) c.2055del (p.Gln686ArgfsTer23) c.2309del c.1551del (p.Gln518ArgfsTer23) c.1932del (p.Gln645ArgfsTer23) c.1606+204del (n.1606+204del) c.1674del (p.Gln559ArgfsTer23) n.2065del n.2172del n.2032del | ClinVar dbSNP |
19 | g.11120437G>A | CA038353 | LDLR | c.2313G>A (p.Pro771=) c.*124G>A (n.*124G>A) c.1935G>A (p.Pro645=) c.2055G>A (p.Pro685=) c.2309G>A c.1551G>A (p.Pro517=) c.1932G>A (p.Pro644=) c.1606+204G>A (n.1606+204G>A) c.1674G>A (p.Pro558=) n.2065G>A n.2172G>A n.2032G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120437G>C | CA505486529 | LDLR | c.2313G>C (p.Pro771=) c.*124G>C (n.*124G>C) c.1935G>C (p.Pro645=) c.2055G>C (p.Pro685=) c.2309G>C c.1551G>C (p.Pro517=) c.1932G>C (p.Pro644=) c.1606+204G>C (n.1606+204G>C) c.1674G>C (p.Pro558=) n.2065G>C n.2172G>C n.2032G>C | |
19 | g.11120437G= | CA2322775593 | LDLR | c.2313G= (p.Pro771=) c.*124G= (n.*124G=) c.1935G= (p.Pro645=) c.2055G= (p.Pro685=) c.2309G= c.1551G= (p.Pro517=) c.1932G= (p.Pro644=) c.1606+204G= (n.1606+204G=) c.1674G= (p.Pro558=) n.2065G= n.2172G= n.2032G= | |
19 | g.11120437G>T | CA038370 | LDLR | c.2313G>T (p.Pro771=) c.*124G>T (n.*124G>T) c.1935G>T (p.Pro645=) c.2055G>T (p.Pro685=) c.2309G>T c.1551G>T (p.Pro517=) c.1932G>T (p.Pro644=) c.1606+204G>T (n.1606+204G>T) c.1674G>T (p.Pro558=) n.2065G>T n.2172G>T n.2032G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120437_11120450delinsGCAGATCAACCCCC | CA2322775594 | LDLR | c.2313_2326delinsGCAGATCAACCCCC (p.Pro771=) c.*124_*137delinsGCAGATCAACCCCC (n.*124_*137delinsGCAGATCAACCCCC) c.1935_1948delinsGCAGATCAACCCCC (p.Pro645=) c.2055_2068delinsGCAGATCAACCCCC (p.Pro685=) c.2309_2322delinsGCAGATCAACCCCC c.1551_1564delinsGCAGATCAACCCCC (p.Pro517=) c.1932_1945delinsGCAGATCAACCCCC (p.Pro644=) c.1606+204_1606+217delinsGCAGATCAACCCCC (n.1606+204_1606+217delinsGCAGATCAACCCCC) c.1674_1687delinsGCAGATCAACCCCC (p.Pro558=) n.2065_2078delinsGCAGATCAACCCCC n.2172_2185delinsGCAGATCAACCCCC n.2032_2045delinsGCAGATCAACCCCC | |
19 | g.11120438C>A | CA404093690 | LDLR | c.2314C>A (p.Gln772Lys) c.*125C>A (n.*125C>A) c.1936C>A (p.Gln646Lys) c.2056C>A (p.Gln686Lys) c.2310C>A c.1552C>A (p.Gln518Lys) c.1933C>A (p.Gln645Lys) c.1606+205C>A (n.1606+205C>A) c.1675C>A (p.Gln559Lys) n.2066C>A n.2173C>A n.2033C>A | |
19 | g.11120438C= | CA2322775595 | LDLR | c.2314C= (p.Gln772=) c.*125C= (n.*125C=) c.1936C= (p.Gln646=) c.2056C= (p.Gln686=) c.2310C= c.1552C= (p.Gln518=) c.1933C= (p.Gln645=) c.1606+205C= (n.1606+205C=) c.1675C= (p.Gln559=) n.2066C= n.2173C= n.2033C= | |
19 | g.11120438C>G | CA16602343 | LDLR | c.2314C>G (p.Gln772Glu) c.*125C>G (n.*125C>G) c.1936C>G (p.Gln646Glu) c.2056C>G (p.Gln686Glu) c.2310C>G c.1552C>G (p.Gln518Glu) c.1933C>G (p.Gln645Glu) c.1606+205C>G (n.1606+205C>G) c.1675C>G (p.Gln559Glu) n.2066C>G n.2173C>G n.2033C>G | ClinVar dbSNP |
19 | g.11120438C>T | CA10585752 | LDLR | c.2314C>T (p.Gln772Ter) c.*125C>T (n.*125C>T) c.1936C>T (p.Gln646Ter) c.2056C>T (p.Gln686Ter) c.2310C>T c.1552C>T (p.Gln518Ter) c.1933C>T (p.Gln645Ter) c.1606+205C>T (n.1606+205C>T) c.1675C>T (p.Gln559Ter) n.2066C>T n.2173C>T n.2033C>T | ClinVar dbSNP |
19 | g.11120438_11120450del | CA10585753 | LDLR | c.2314_2326del (p.Gln772ThrfsTer19) c.*125_*137del (n.*125_*137del) c.1936_1948del (p.Gln646ThrfsTer19) c.2056_2068del (p.Gln686ThrfsTer19) c.2310_2322del c.1552_1564del (p.Gln518ThrfsTer19) c.1933_1945del (p.Gln645ThrfsTer19) c.1606+205_1606+217del (n.1606+205_1606+217del) c.1675_1687del (p.Gln559ThrfsTer19) n.2066_2078del n.2173_2185del n.2033_2045del | ClinVar dbSNP |
19 | g.11120438_11120439insT | CA2497030100 | LDLR | c.2314_2315insT (p.Gln772LeufsTer?) c.*125_*126insT (n.*125_*126insT) c.1936_1937insT (p.Gln646LeufsTer?) c.2056_2057insT (p.Gln686LeufsTer?) c.2310_2311insT c.1552_1553insT (p.Gln518LeufsTer?) c.1933_1934insT (p.Gln645LeufsTer?) c.1606+205_1606+206insT (n.1606+205_1606+206insT) c.1675_1676insT (p.Gln559LeufsTer?) n.2066_2067insT n.2173_2174insT n.2033_2034insT | |
19 | g.11120439A>C | CA404093698 | LDLR | c.2315A>C (p.Gln772Pro) c.*126A>C (n.*126A>C) c.1937A>C (p.Gln646Pro) c.2057A>C (p.Gln686Pro) c.2311A>C c.1553A>C (p.Gln518Pro) c.1934A>C (p.Gln645Pro) c.1606+206A>C (n.1606+206A>C) c.1676A>C (p.Gln559Pro) n.2067A>C n.2174A>C n.2034A>C | |
19 | g.11120439A>G | CA404093699 | LDLR | c.2315A>G (p.Gln772Arg) c.*126A>G (n.*126A>G) c.1937A>G (p.Gln646Arg) c.2057A>G (p.Gln686Arg) c.2311A>G c.1553A>G (p.Gln518Arg) c.1934A>G (p.Gln645Arg) c.1606+206A>G (n.1606+206A>G) c.1676A>G (p.Gln559Arg) n.2067A>G n.2174A>G n.2034A>G | |
19 | g.11120439A>T | CA404093701 | LDLR | c.2315A>T (p.Gln772Leu) c.*126A>T (n.*126A>T) c.1937A>T (p.Gln646Leu) c.2057A>T (p.Gln686Leu) c.2311A>T c.1553A>T (p.Gln518Leu) c.1934A>T (p.Gln645Leu) c.1606+206A>T (n.1606+206A>T) c.1676A>T (p.Gln559Leu) n.2067A>T n.2174A>T n.2034A>T | |
19 | g.11120440G>A | CA505486532 | LDLR | c.2316G>A (p.Gln772=) c.*127G>A (n.*127G>A) c.1938G>A (p.Gln646=) c.2058G>A (p.Gln686=) c.2312G>A c.1554G>A (p.Gln518=) c.1935G>A (p.Gln645=) c.1606+207G>A (n.1606+207G>A) c.1677G>A (p.Gln559=) n.2068G>A n.2175G>A n.2035G>A | |
19 | g.11120440G>C | CA404093703 | LDLR | c.2316G>C (p.Gln772His) c.*127G>C (n.*127G>C) c.1938G>C (p.Gln646His) c.2058G>C (p.Gln686His) c.2312G>C c.1554G>C (p.Gln518His) c.1935G>C (p.Gln645His) c.1606+207G>C (n.1606+207G>C) c.1677G>C (p.Gln559His) n.2068G>C n.2175G>C n.2035G>C | dbSNP |
19 | g.11120440G= | CA2322775596 | LDLR | c.2316G= (p.Gln772=) c.*127G= (n.*127G=) c.1938G= (p.Gln646=) c.2058G= (p.Gln686=) c.2312G= c.1554G= (p.Gln518=) c.1935G= (p.Gln645=) c.1606+207G= (n.1606+207G=) c.1677G= (p.Gln559=) n.2068G= n.2175G= n.2035G= | |
19 | g.11120440G>T | CA404093705 | LDLR | c.2316G>T (p.Gln772His) c.*127G>T (n.*127G>T) c.1938G>T (p.Gln646His) c.2058G>T (p.Gln686His) c.2312G>T c.1554G>T (p.Gln518His) c.1935G>T (p.Gln645His) c.1606+207G>T (n.1606+207G>T) c.1677G>T (p.Gln559His) n.2068G>T n.2175G>T n.2035G>T | |
19 | g.11120441A= | CA2322775597 | LDLR | c.2317A= (p.Ile773=) c.*128A= (n.*128A=) c.1939A= (p.Ile647=) c.2059A= (p.Ile687=) c.2313A= c.1555A= (p.Ile519=) c.1936A= (p.Ile646=) c.1606+208A= (n.1606+208A=) c.1678A= (p.Ile560=) n.2069A= n.2176A= n.2036A= | |
19 | g.11120441A>C | CA404093707 | LDLR | c.2317A>C (p.Ile773Leu) c.*128A>C (n.*128A>C) c.1939A>C (p.Ile647Leu) c.2059A>C (p.Ile687Leu) c.2313A>C c.1555A>C (p.Ile519Leu) c.1936A>C (p.Ile646Leu) c.1606+208A>C (n.1606+208A>C) c.1678A>C (p.Ile560Leu) n.2069A>C n.2176A>C n.2036A>C | |
19 | g.11120441A>G | CA404093709 | LDLR | c.2317A>G (p.Ile773Val) c.*128A>G (n.*128A>G) c.1939A>G (p.Ile647Val) c.2059A>G (p.Ile687Val) c.2313A>G c.1555A>G (p.Ile519Val) c.1936A>G (p.Ile646Val) c.1606+208A>G (n.1606+208A>G) c.1678A>G (p.Ile560Val) n.2069A>G n.2176A>G n.2036A>G | |
19 | g.11120441A>T | CA16609819 | LDLR | c.2317A>T (p.Ile773Phe) c.*128A>T (n.*128A>T) c.1939A>T (p.Ile647Phe) c.2059A>T (p.Ile687Phe) c.2313A>T c.1555A>T (p.Ile519Phe) c.1936A>T (p.Ile646Phe) c.1606+208A>T (n.1606+208A>T) c.1678A>T (p.Ile560Phe) n.2069A>T n.2176A>T n.2036A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120441_11120442delinsAT | CA2322775598 | LDLR | c.2317_2318delinsAT (p.Ile773=) c.*128_*129delinsAT (n.*128_*129delinsAT) c.1939_1940delinsAT (p.Ile647=) c.2059_2060delinsAT (p.Ile687=) c.2313_2314delinsAT c.1555_1556delinsAT (p.Ile519=) c.1936_1937delinsAT (p.Ile646=) c.1606+208_1606+209delinsAT (n.1606+208_1606+209delinsAT) c.1678_1679delinsAT (p.Ile560=) n.2069_2070delinsAT n.2176_2177delinsAT n.2036_2037delinsAT | |
19 | g.11120442del | CA10585754 | LDLR | c.2318del (p.Ile773ThrfsTer22) c.*129del (n.*129del) c.1940del (p.Ile647ThrfsTer22) c.2060del (p.Ile687ThrfsTer22) c.2314del c.1556del (p.Ile519ThrfsTer22) c.1937del (p.Ile646ThrfsTer22) c.1606+209del (n.1606+209del) c.1679del (p.Ile560ThrfsTer22) n.2070del n.2177del n.2037del | ClinVar dbSNP |
19 | g.11120442T>A | CA404093714 | LDLR | c.2318T>A (p.Ile773Asn) c.*129T>A (n.*129T>A) c.1940T>A (p.Ile647Asn) c.2060T>A (p.Ile687Asn) c.2314T>A c.1556T>A (p.Ile519Asn) c.1937T>A (p.Ile646Asn) c.1606+209T>A (n.1606+209T>A) c.1679T>A (p.Ile560Asn) n.2070T>A n.2177T>A n.2037T>A | |
19 | g.11120442T>C | CA404093715 | LDLR | c.2318T>C (p.Ile773Thr) c.*129T>C (n.*129T>C) c.1940T>C (p.Ile647Thr) c.2060T>C (p.Ile687Thr) c.2314T>C c.1556T>C (p.Ile519Thr) c.1937T>C (p.Ile646Thr) c.1606+209T>C (n.1606+209T>C) c.1679T>C (p.Ile560Thr) n.2070T>C n.2177T>C n.2037T>C | |
19 | g.11120442T>G | CA404093717 | LDLR | c.2318T>G (p.Ile773Ser) c.*129T>G (n.*129T>G) c.1940T>G (p.Ile647Ser) c.2060T>G (p.Ile687Ser) c.2314T>G c.1556T>G (p.Ile519Ser) c.1937T>G (p.Ile646Ser) c.1606+209T>G (n.1606+209T>G) c.1679T>G (p.Ile560Ser) n.2070T>G n.2177T>G n.2037T>G | |
19 | g.11120442T= | CA2322775599 | LDLR | c.2318T= (p.Ile773=) c.*129T= (n.*129T=) c.1940T= (p.Ile647=) c.2060T= (p.Ile687=) c.2314T= c.1556T= (p.Ile519=) c.1937T= (p.Ile646=) c.1606+209T= (n.1606+209T=) c.1679T= (p.Ile560=) n.2070T= n.2177T= n.2037T= | |
19 | g.11120442dup | CA10585755 | LDLR | c.2318dup (p.Asn774GlnfsTer29) c.*129dup (n.*129dup) c.1940dup (p.Asn648GlnfsTer29) c.2060dup (p.Asn688GlnfsTer29) c.2314dup c.1556dup (p.Asn520GlnfsTer29) c.1937dup (p.Asn647GlnfsTer29) c.1606+209dup (n.1606+209dup) c.1679dup (p.Asn561GlnfsTer29) n.2070dup n.2177dup n.2037dup | ClinVar dbSNP |
19 | g.11120442_11120443delinsTC | CA2322775600 | LDLR | c.2318_2319delinsTC (p.Ile773=) c.*129_*130delinsTC (n.*129_*130delinsTC) c.1940_1941delinsTC (p.Ile647=) c.2060_2061delinsTC (p.Ile687=) c.2314_2315delinsTC c.1556_1557delinsTC (p.Ile519=) c.1937_1938delinsTC (p.Ile646=) c.1606+209_1606+210delinsTC (n.1606+209_1606+210delinsTC) c.1679_1680delinsTC (p.Ile560=) n.2070_2071delinsTC n.2177_2178delinsTC n.2037_2038delinsTC | |
19 | g.11120443del | CA645373258 | LDLR | c.2319del (p.Asn774ThrfsTer21) c.*130del (n.*130del) c.1941del (p.Asn648ThrfsTer21) c.2061del (p.Asn688ThrfsTer21) c.2315del c.1557del (p.Asn520ThrfsTer21) c.1938del (p.Asn647ThrfsTer21) c.1606+210del (n.1606+210del) c.1680del (p.Asn561ThrfsTer21) n.2071del n.2178del n.2038del | ClinVar dbSNP |
19 | g.11120443C>A | CA505486536 | LDLR | c.2319C>A (p.Ile773=) c.*130C>A (n.*130C>A) c.1941C>A (p.Ile647=) c.2061C>A (p.Ile687=) c.2315C>A c.1557C>A (p.Ile519=) c.1938C>A (p.Ile646=) c.1606+210C>A (n.1606+210C>A) c.1680C>A (p.Ile560=) n.2071C>A n.2178C>A n.2038C>A | |
19 | g.11120443C= | CA2322775601 | LDLR | c.2319C= (p.Ile773=) c.*130C= (n.*130C=) c.1941C= (p.Ile647=) c.2061C= (p.Ile687=) c.2315C= c.1557C= (p.Ile519=) c.1938C= (p.Ile646=) c.1606+210C= (n.1606+210C=) c.1680C= (p.Ile560=) n.2071C= n.2178C= n.2038C= | |
19 | g.11120443C>G | CA404093724 | LDLR | c.2319C>G (p.Ile773Met) c.*130C>G (n.*130C>G) c.1941C>G (p.Ile647Met) c.2061C>G (p.Ile687Met) c.2315C>G c.1557C>G (p.Ile519Met) c.1938C>G (p.Ile646Met) c.1606+210C>G (n.1606+210C>G) c.1680C>G (p.Ile560Met) n.2071C>G n.2178C>G n.2038C>G | |
19 | g.11120443C>T | CA505486534 | LDLR | c.2319C>T (p.Ile773=) c.*130C>T (n.*130C>T) c.1941C>T (p.Ile647=) c.2061C>T (p.Ile687=) c.2315C>T c.1557C>T (p.Ile519=) c.1938C>T (p.Ile646=) c.1606+210C>T (n.1606+210C>T) c.1680C>T (p.Ile560=) n.2071C>T n.2178C>T n.2038C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120443dup | CA038385 | LDLR | c.2319dup (p.Asn774GlnfsTer29) c.*130dup (n.*130dup) c.1941dup (p.Asn648GlnfsTer29) c.2061dup (p.Asn688GlnfsTer29) c.2315dup c.1557dup (p.Asn520GlnfsTer29) c.1938dup (p.Asn647GlnfsTer29) c.1606+210dup (n.1606+210dup) c.1680dup (p.Asn561GlnfsTer29) n.2071dup n.2178dup n.2038dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120443_11120444delinsCA | CA2322775602 | LDLR | c.2319_2320delinsCA (p.Ile773=) c.*130_*131delinsCA (n.*130_*131delinsCA) c.1941_1942delinsCA (p.Ile647=) c.2061_2062delinsCA (p.Ile687=) c.2315_2316delinsCA c.1557_1558delinsCA (p.Ile519=) c.1938_1939delinsCA (p.Ile646=) c.1606+210_1606+211delinsCA (n.1606+210_1606+211delinsCA) c.1680_1681delinsCA (p.Ile560=) n.2071_2072delinsCA n.2178_2179delinsCA n.2038_2039delinsCA | |
19 | g.11120444A= | CA2322775603 | LDLR | c.2320A= (p.Asn774=) c.*131A= (n.*131A=) c.1942A= (p.Asn648=) c.2062A= (p.Asn688=) c.2316A= c.1558A= (p.Asn520=) c.1939A= (p.Asn647=) c.1606+211A= (n.1606+211A=) c.1681A= (p.Asn561=) n.2072A= n.2179A= n.2039A= | |
19 | g.11120444A>C | CA404093726 | LDLR | c.2320A>C (p.Asn774His) c.*131A>C (n.*131A>C) c.1942A>C (p.Asn648His) c.2062A>C (p.Asn688His) c.2316A>C c.1558A>C (p.Asn520His) c.1939A>C (p.Asn647His) c.1606+211A>C (n.1606+211A>C) c.1681A>C (p.Asn561His) n.2072A>C n.2179A>C n.2039A>C | |
19 | g.11120444A>G | CA404093728 | LDLR | c.2320A>G (p.Asn774Asp) c.*131A>G (n.*131A>G) c.1942A>G (p.Asn648Asp) c.2062A>G (p.Asn688Asp) c.2316A>G c.1558A>G (p.Asn520Asp) c.1939A>G (p.Asn647Asp) c.1606+211A>G (n.1606+211A>G) c.1681A>G (p.Asn561Asp) n.2072A>G n.2179A>G n.2039A>G | |
19 | g.11120444A>T | CA404093730 | LDLR | c.2320A>T (p.Asn774Tyr) c.*131A>T (n.*131A>T) c.1942A>T (p.Asn648Tyr) c.2062A>T (p.Asn688Tyr) c.2316A>T c.1558A>T (p.Asn520Tyr) c.1939A>T (p.Asn647Tyr) c.1606+211A>T (n.1606+211A>T) c.1681A>T (p.Asn561Tyr) n.2072A>T n.2179A>T n.2039A>T | |
19 | g.11120445dup | CA10585757 | LDLR | c.2321dup (p.Asn774LysfsTer29) c.*132dup (n.*132dup) c.1943dup (p.Asn648LysfsTer29) c.2063dup (p.Asn688LysfsTer29) c.2317dup c.1559dup (p.Asn520LysfsTer29) c.1940dup (p.Asn647LysfsTer29) c.1606+212dup (n.1606+212dup) c.1682dup (p.Asn561LysfsTer29) n.2073dup n.2180dup n.2040dup | ClinVar dbSNP |
19 | g.11120445del | CA10585756 | LDLR | c.2321del (p.Asn774ThrfsTer21) c.*132del (n.*132del) c.1943del (p.Asn648ThrfsTer21) c.2063del (p.Asn688ThrfsTer21) c.2317del c.1559del (p.Asn520ThrfsTer21) c.1940del (p.Asn647ThrfsTer21) c.1606+212del (n.1606+212del) c.1682del (p.Asn561ThrfsTer21) n.2073del n.2180del n.2040del | ClinVar dbSNP |
19 | g.11120444_11120445insC | CA645509290 | LDLR | c.2320_2321insC (p.Asn774ThrfsTer29) c.*131_*132insC (n.*131_*132insC) c.1942_1943insC (p.Asn648ThrfsTer29) c.2062_2063insC (p.Asn688ThrfsTer29) c.2316_2317insC c.1558_1559insC (p.Asn520ThrfsTer29) c.1939_1940insC (p.Asn647ThrfsTer29) c.1606+211_1606+212insC (n.1606+211_1606+212insC) c.1681_1682insC (p.Asn561ThrfsTer29) n.2072_2073insC n.2179_2180insC n.2039_2040insC | ClinVar dbSNP |
19 | g.11120445A= | CA2322775604 | LDLR | c.2321A= (p.Asn774=) c.*132A= (n.*132A=) c.1943A= (p.Asn648=) c.2063A= (p.Asn688=) c.2317A= c.1559A= (p.Asn520=) c.1940A= (p.Asn647=) c.1606+212A= (n.1606+212A=) c.1682A= (p.Asn561=) n.2073A= n.2180A= n.2040A= | |
19 | g.11120445A>C | CA404093736 | LDLR | c.2321A>C (p.Asn774Thr) c.*132A>C (n.*132A>C) c.1943A>C (p.Asn648Thr) c.2063A>C (p.Asn688Thr) c.2317A>C c.1559A>C (p.Asn520Thr) c.1940A>C (p.Asn647Thr) c.1606+212A>C (n.1606+212A>C) c.1682A>C (p.Asn561Thr) n.2073A>C n.2180A>C n.2040A>C | dbSNP |
19 | g.11120445A>G | CA404093739 | LDLR | c.2321A>G (p.Asn774Ser) c.*132A>G (n.*132A>G) c.1943A>G (p.Asn648Ser) c.2063A>G (p.Asn688Ser) c.2317A>G c.1559A>G (p.Asn520Ser) c.1940A>G (p.Asn647Ser) c.1606+212A>G (n.1606+212A>G) c.1682A>G (p.Asn561Ser) n.2073A>G n.2180A>G n.2040A>G | ClinVar gnomAD v4 |
19 | g.11120445A>T | CA404093734 | LDLR | c.2321A>T (p.Asn774Ile) c.*132A>T (n.*132A>T) c.1943A>T (p.Asn648Ile) c.2063A>T (p.Asn688Ile) c.2317A>T c.1559A>T (p.Asn520Ile) c.1940A>T (p.Asn647Ile) c.1606+212A>T (n.1606+212A>T) c.1682A>T (p.Asn561Ile) n.2073A>T n.2180A>T n.2040A>T | |
19 | g.11120445_11120446delinsAC | CA2322775605 | LDLR | c.2321_2322delinsAC (p.Asn774=) c.*132_*133delinsAC (n.*132_*133delinsAC) c.1943_1944delinsAC (p.Asn648=) c.2063_2064delinsAC (p.Asn688=) c.2317_2318delinsAC c.1559_1560delinsAC (p.Asn520=) c.1940_1941delinsAC (p.Asn647=) c.1606+212_1606+213delinsAC (n.1606+212_1606+213delinsAC) c.1682_1683delinsAC (p.Asn561=) n.2073_2074delinsAC n.2180_2181delinsAC n.2040_2041delinsAC | |
19 | g.11120446C>A | CA404093742 | LDLR | c.2322C>A (p.Asn774Lys) c.*133C>A (n.*133C>A) c.1944C>A (p.Asn648Lys) c.2064C>A (p.Asn688Lys) c.2318C>A c.1560C>A (p.Asn520Lys) c.1941C>A (p.Asn647Lys) c.1606+213C>A (n.1606+213C>A) c.1683C>A (p.Asn561Lys) n.2074C>A n.2181C>A n.2041C>A | |
19 | g.11120446C= | CA2322775606 | LDLR | c.2322C= (p.Asn774=) c.*133C= (n.*133C=) c.1944C= (p.Asn648=) c.2064C= (p.Asn688=) c.2318C= c.1560C= (p.Asn520=) c.1941C= (p.Asn647=) c.1606+213C= (n.1606+213C=) c.1683C= (p.Asn561=) n.2074C= n.2181C= n.2041C= | |
19 | g.11120446C>G | CA404093744 | LDLR | c.2322C>G (p.Asn774Lys) c.*133C>G (n.*133C>G) c.1944C>G (p.Asn648Lys) c.2064C>G (p.Asn688Lys) c.2318C>G c.1560C>G (p.Asn520Lys) c.1941C>G (p.Asn647Lys) c.1606+213C>G (n.1606+213C>G) c.1683C>G (p.Asn561Lys) n.2074C>G n.2181C>G n.2041C>G | |
19 | g.11120446C>T | CA038402 | LDLR | c.2322C>T (p.Asn774=) c.*133C>T (n.*133C>T) c.1944C>T (p.Asn648=) c.2064C>T (p.Asn688=) c.2318C>T c.1560C>T (p.Asn520=) c.1941C>T (p.Asn647=) c.1606+213C>T (n.1606+213C>T) c.1683C>T (p.Asn561=) n.2074C>T n.2181C>T n.2041C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120450dup | CA16602344 | LDLR | c.2326dup (p.His776ProfsTer27) c.*137dup (n.*137dup) c.1948dup (p.His650ProfsTer27) c.2068dup (p.His690ProfsTer27) c.2322dup c.1564dup (p.His522ProfsTer27) c.1945dup (p.His649ProfsTer27) c.1606+217dup (n.1606+217dup) c.1687dup (p.His563ProfsTer27) n.2078dup n.2185dup n.2045dup | ClinVar dbSNP |
19 | g.11120450del | CA10585759 | LDLR | c.2326del (p.His776ThrfsTer19) c.*137del (n.*137del) c.1948del (p.His650ThrfsTer19) c.2068del (p.His690ThrfsTer19) c.2322del c.1564del (p.His522ThrfsTer19) c.1945del (p.His649ThrfsTer19) c.1606+217del (n.1606+217del) c.1687del (p.His563ThrfsTer19) n.2078del n.2185del n.2045del | ClinVar dbSNP gnomAD v4 |
19 | g.11120447C>A | CA404093750 | LDLR | c.2323C>A (p.Pro775Thr) c.*134C>A (n.*134C>A) c.1945C>A (p.Pro649Thr) c.2065C>A (p.Pro689Thr) c.2319C>A c.1561C>A (p.Pro521Thr) c.1942C>A (p.Pro648Thr) c.1606+214C>A (n.1606+214C>A) c.1684C>A (p.Pro562Thr) n.2075C>A n.2182C>A n.2042C>A | |
19 | g.11120447C= | CA2322775607 | LDLR | c.2323C= (p.Pro775=) c.*134C= (n.*134C=) c.1945C= (p.Pro649=) c.2065C= (p.Pro689=) c.2319C= c.1561C= (p.Pro521=) c.1942C= (p.Pro648=) c.1606+214C= (n.1606+214C=) c.1684C= (p.Pro562=) n.2075C= n.2182C= n.2042C= | |
19 | g.11120447C>G | CA404093752 | LDLR | c.2323C>G (p.Pro775Ala) c.*134C>G (n.*134C>G) c.1945C>G (p.Pro649Ala) c.2065C>G (p.Pro689Ala) c.2319C>G c.1561C>G (p.Pro521Ala) c.1942C>G (p.Pro648Ala) c.1606+214C>G (n.1606+214C>G) c.1684C>G (p.Pro562Ala) n.2075C>G n.2182C>G n.2042C>G | |
19 | g.11120447C>T | CA038416 | LDLR | c.2323C>T (p.Pro775Ser) c.*134C>T (n.*134C>T) c.1945C>T (p.Pro649Ser) c.2065C>T (p.Pro689Ser) c.2319C>T c.1561C>T (p.Pro521Ser) c.1942C>T (p.Pro648Ser) c.1606+214C>T (n.1606+214C>T) c.1684C>T (p.Pro562Ser) n.2075C>T n.2182C>T n.2042C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120448C>A | CA404093758 | LDLR | c.2324C>A (p.Pro775His) c.*135C>A (n.*135C>A) c.1946C>A (p.Pro649His) c.2066C>A (p.Pro689His) c.2320C>A c.1562C>A (p.Pro521His) c.1943C>A (p.Pro648His) c.1606+215C>A (n.1606+215C>A) c.1685C>A (p.Pro562His) n.2076C>A n.2183C>A n.2043C>A | |
19 | g.11120448C>G | CA404093756 | LDLR | c.2324C>G (p.Pro775Arg) c.*135C>G (n.*135C>G) c.1946C>G (p.Pro649Arg) c.2066C>G (p.Pro689Arg) c.2320C>G c.1562C>G (p.Pro521Arg) c.1943C>G (p.Pro648Arg) c.1606+215C>G (n.1606+215C>G) c.1685C>G (p.Pro562Arg) n.2076C>G n.2183C>G n.2043C>G | |
19 | g.11120448C>T | CA404093754 | LDLR | c.2324C>T (p.Pro775Leu) c.*135C>T (n.*135C>T) c.1946C>T (p.Pro649Leu) c.2066C>T (p.Pro689Leu) c.2320C>T c.1562C>T (p.Pro521Leu) c.1943C>T (p.Pro648Leu) c.1606+215C>T (n.1606+215C>T) c.1685C>T (p.Pro562Leu) n.2076C>T n.2183C>T n.2043C>T | |
19 | g.11120449C>A | CA505486543 | LDLR | c.2325C>A (p.Pro775=) c.*136C>A (n.*136C>A) c.1947C>A (p.Pro649=) c.2067C>A (p.Pro689=) c.2321C>A c.1563C>A (p.Pro521=) c.1944C>A (p.Pro648=) c.1606+216C>A (n.1606+216C>A) c.1686C>A (p.Pro562=) n.2077C>A n.2184C>A n.2044C>A | |
19 | g.11120449C= | CA2322775608 | LDLR | c.2325C= (p.Pro775=) c.*136C= (n.*136C=) c.1947C= (p.Pro649=) c.2067C= (p.Pro689=) c.2321C= c.1563C= (p.Pro521=) c.1944C= (p.Pro648=) c.1606+216C= (n.1606+216C=) c.1686C= (p.Pro562=) n.2077C= n.2184C= n.2044C= | |
19 | g.11120449C>G | CA505486544 | LDLR | c.2325C>G (p.Pro775=) c.*136C>G (n.*136C>G) c.1947C>G (p.Pro649=) c.2067C>G (p.Pro689=) c.2321C>G c.1563C>G (p.Pro521=) c.1944C>G (p.Pro648=) c.1606+216C>G (n.1606+216C>G) c.1686C>G (p.Pro562=) n.2077C>G n.2184C>G n.2044C>G | gnomAD v4 |
19 | g.11120449C>T | CA505486545 | LDLR | c.2325C>T (p.Pro775=) c.*136C>T (n.*136C>T) c.1947C>T (p.Pro649=) c.2067C>T (p.Pro689=) c.2321C>T c.1563C>T (p.Pro521=) c.1944C>T (p.Pro648=) c.1606+216C>T (n.1606+216C>T) c.1686C>T (p.Pro562=) n.2077C>T n.2184C>T n.2044C>T | dbSNP gnomAD v2 |
19 | g.11120450C>A | CA038426 | LDLR | c.2326C>A (p.His776Asn) c.*137C>A (n.*137C>A) c.1948C>A (p.His650Asn) c.2068C>A (p.His690Asn) c.2322C>A c.1564C>A (p.His522Asn) c.1945C>A (p.His649Asn) c.1606+217C>A (n.1606+217C>A) c.1687C>A (p.His563Asn) n.2078C>A n.2185C>A n.2045C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120450C= | CA2322775609 | LDLR | c.2326C= (p.His776=) c.*137C= (n.*137C=) c.1948C= (p.His650=) c.2068C= (p.His690=) c.2322C= c.1564C= (p.His522=) c.1945C= (p.His649=) c.1606+217C= (n.1606+217C=) c.1687C= (p.His563=) n.2078C= n.2185C= n.2045C= | |
19 | g.11120450C>G | CA10585758 | LDLR | c.2326C>G (p.His776Asp) c.*137C>G (n.*137C>G) c.1948C>G (p.His650Asp) c.2068C>G (p.His690Asp) c.2322C>G c.1564C>G (p.His522Asp) c.1945C>G (p.His649Asp) c.1606+217C>G (n.1606+217C>G) c.1687C>G (p.His563Asp) n.2078C>G n.2185C>G n.2045C>G | ClinVar dbSNP |
19 | g.11120450C>T | CA404093764 | LDLR | c.2326C>T (p.His776Tyr) c.*137C>T (n.*137C>T) c.1948C>T (p.His650Tyr) c.2068C>T (p.His690Tyr) c.2322C>T c.1564C>T (p.His522Tyr) c.1945C>T (p.His649Tyr) c.1606+217C>T (n.1606+217C>T) c.1687C>T (p.His563Tyr) n.2078C>T n.2185C>T n.2045C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120451_11120466dup | CA2695228174 | LDLR | c.2327_2342dup (p.Cys782LeufsTer26) c.*138_*153dup (n.*138_*153dup) c.1949_1964dup (p.Cys656LeufsTer26) c.2069_2084dup (p.Cys696LeufsTer26) c.2323_2338dup c.1565_1580dup (p.Cys528LeufsTer26) c.1946_1961dup (p.Cys655LeufsTer26) c.1606+218_1606+233dup (n.1606+218_1606+233dup) c.1688_1703dup (p.Cys569LeufsTer26) n.2079_2094dup n.2186_2201dup n.2046_2061dup | |
19 | g.11120451A= | CA2322775610 | LDLR | c.2327A= (p.His776=) c.*138A= (n.*138A=) c.1949A= (p.His650=) c.2069A= (p.His690=) c.2323A= c.1565A= (p.His522=) c.1946A= (p.His649=) c.1606+218A= (n.1606+218A=) c.1688A= (p.His563=) n.2079A= n.2186A= n.2046A= | |
19 | g.11120451A>C | CA404093768 | LDLR | c.2327A>C (p.His776Pro) c.*138A>C (n.*138A>C) c.1949A>C (p.His650Pro) c.2069A>C (p.His690Pro) c.2323A>C c.1565A>C (p.His522Pro) c.1946A>C (p.His649Pro) c.1606+218A>C (n.1606+218A>C) c.1688A>C (p.His563Pro) n.2079A>C n.2186A>C n.2046A>C | dbSNP |
19 | g.11120451A>G | CA404093769 | LDLR | c.2327A>G (p.His776Arg) c.*138A>G (n.*138A>G) c.1949A>G (p.His650Arg) c.2069A>G (p.His690Arg) c.2323A>G c.1565A>G (p.His522Arg) c.1946A>G (p.His649Arg) c.1606+218A>G (n.1606+218A>G) c.1688A>G (p.His563Arg) n.2079A>G n.2186A>G n.2046A>G | |
19 | g.11120451A>T | CA404093772 | LDLR | c.2327A>T (p.His776Leu) c.*138A>T (n.*138A>T) c.1949A>T (p.His650Leu) c.2069A>T (p.His690Leu) c.2323A>T c.1565A>T (p.His522Leu) c.1946A>T (p.His649Leu) c.1606+218A>T (n.1606+218A>T) c.1688A>T (p.His563Leu) n.2079A>T n.2186A>T n.2046A>T | |
19 | g.11120452C>A | CA404093775 | LDLR | c.2328C>A (p.His776Gln) c.*139C>A (n.*139C>A) c.1950C>A (p.His650Gln) c.2070C>A (p.His690Gln) c.2324C>A c.1566C>A (p.His522Gln) c.1947C>A (p.His649Gln) c.1606+219C>A (n.1606+219C>A) c.1689C>A (p.His563Gln) n.2080C>A n.2187C>A n.2047C>A | |
19 | g.11120452C= | CA2322775611 | LDLR | c.2328C= (p.His776=) c.*139C= (n.*139C=) c.1950C= (p.His650=) c.2070C= (p.His690=) c.2324C= c.1566C= (p.His522=) c.1947C= (p.His649=) c.1606+219C= (n.1606+219C=) c.1689C= (p.His563=) n.2080C= n.2187C= n.2047C= | |
19 | g.11120452C>G | CA404093778 | LDLR | c.2328C>G (p.His776Gln) c.*139C>G (n.*139C>G) c.1950C>G (p.His650Gln) c.2070C>G (p.His690Gln) c.2324C>G c.1566C>G (p.His522Gln) c.1947C>G (p.His649Gln) c.1606+219C>G (n.1606+219C>G) c.1689C>G (p.His563Gln) n.2080C>G n.2187C>G n.2047C>G | |
19 | g.11120452C>T | CA038438 | LDLR | c.2328C>T (p.His776=) c.*139C>T (n.*139C>T) c.1950C>T (p.His650=) c.2070C>T (p.His690=) c.2324C>T c.1566C>T (p.His522=) c.1947C>T (p.His649=) c.1606+219C>T (n.1606+219C>T) c.1689C>T (p.His563=) n.2080C>T n.2187C>T n.2047C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120453T>A | CA404093781 | LDLR | c.2329T>A (p.Ser777Thr) c.*140T>A (n.*140T>A) c.1951T>A (p.Ser651Thr) c.2071T>A (p.Ser691Thr) c.2325T>A c.1567T>A (p.Ser523Thr) c.1948T>A (p.Ser650Thr) c.1606+220T>A (n.1606+220T>A) c.1690T>A (p.Ser564Thr) n.2081T>A n.2188T>A n.2048T>A | |
19 | g.11120453T>C | CA404093783 | LDLR | c.2329T>C (p.Ser777Pro) c.*140T>C (n.*140T>C) c.1951T>C (p.Ser651Pro) c.2071T>C (p.Ser691Pro) c.2325T>C c.1567T>C (p.Ser523Pro) c.1948T>C (p.Ser650Pro) c.1606+220T>C (n.1606+220T>C) c.1690T>C (p.Ser564Pro) n.2081T>C n.2188T>C n.2048T>C | |
19 | g.11120453T>G | CA404093785 | LDLR | c.2329T>G (p.Ser777Ala) c.*140T>G (n.*140T>G) c.1951T>G (p.Ser651Ala) c.2071T>G (p.Ser691Ala) c.2325T>G c.1567T>G (p.Ser523Ala) c.1948T>G (p.Ser650Ala) c.1606+220T>G (n.1606+220T>G) c.1690T>G (p.Ser564Ala) n.2081T>G n.2188T>G n.2048T>G | |
19 | g.11120454C>A | CA10585760 | LDLR | c.2330C>A (p.Ser777Ter) c.*141C>A (n.*141C>A) c.1952C>A (p.Ser651Ter) c.2072C>A (p.Ser691Ter) c.2326C>A c.1568C>A (p.Ser523Ter) c.1949C>A (p.Ser650Ter) c.1606+221C>A (n.1606+221C>A) c.1691C>A (p.Ser564Ter) n.2082C>A n.2189C>A n.2049C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120454C= | CA2322775612 | LDLR | c.2330C= (p.Ser777=) c.*141C= (n.*141C=) c.1952C= (p.Ser651=) c.2072C= (p.Ser691=) c.2326C= c.1568C= (p.Ser523=) c.1949C= (p.Ser650=) c.1606+221C= (n.1606+221C=) c.1691C= (p.Ser564=) n.2082C= n.2189C= n.2049C= | |
19 | g.11120454C>G | CA404093788 | LDLR | c.2330C>G (p.Ser777Trp) c.*141C>G (n.*141C>G) c.1952C>G (p.Ser651Trp) c.2072C>G (p.Ser691Trp) c.2326C>G c.1568C>G (p.Ser523Trp) c.1949C>G (p.Ser650Trp) c.1606+221C>G (n.1606+221C>G) c.1691C>G (p.Ser564Trp) n.2082C>G n.2189C>G n.2049C>G | |
19 | g.11120454C>T | CA038447 | LDLR | c.2330C>T (p.Ser777Leu) c.*141C>T (n.*141C>T) c.1952C>T (p.Ser651Leu) c.2072C>T (p.Ser691Leu) c.2326C>T c.1568C>T (p.Ser523Leu) c.1949C>T (p.Ser650Leu) c.1606+221C>T (n.1606+221C>T) c.1691C>T (p.Ser564Leu) n.2082C>T n.2189C>T n.2049C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120455G>A | CA038453 | LDLR | c.2331G>A (p.Ser777=) c.*142G>A (n.*142G>A) c.1953G>A (p.Ser651=) c.2073G>A (p.Ser691=) c.2327G>A c.1569G>A (p.Ser523=) c.1950G>A (p.Ser650=) c.1606+222G>A (n.1606+222G>A) c.1692G>A (p.Ser564=) n.2083G>A n.2190G>A n.2050G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120455G>C | CA505486553 | LDLR | c.2331G>C (p.Ser777=) c.*142G>C (n.*142G>C) c.1953G>C (p.Ser651=) c.2073G>C (p.Ser691=) c.2327G>C c.1569G>C (p.Ser523=) c.1950G>C (p.Ser650=) c.1606+222G>C (n.1606+222G>C) c.1692G>C (p.Ser564=) n.2083G>C n.2190G>C n.2050G>C | |
19 | g.11120455G= | CA2322775613 | LDLR | c.2331G= (p.Ser777=) c.*142G= (n.*142G=) c.1953G= (p.Ser651=) c.2073G= (p.Ser691=) c.2327G= c.1569G= (p.Ser523=) c.1950G= (p.Ser650=) c.1606+222G= (n.1606+222G=) c.1692G= (p.Ser564=) n.2083G= n.2190G= n.2050G= | |
19 | g.11120455G>T | CA038469 | LDLR | c.2331G>T (p.Ser777=) c.*142G>T (n.*142G>T) c.1953G>T (p.Ser651=) c.2073G>T (p.Ser691=) c.2327G>T c.1569G>T (p.Ser523=) c.1950G>T (p.Ser650=) c.1606+222G>T (n.1606+222G>T) c.1692G>T (p.Ser564=) n.2083G>T n.2190G>T n.2050G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120456C>A | CA404093793 | LDLR | c.2332C>A (p.Pro778Thr) c.*143C>A (n.*143C>A) c.1954C>A (p.Pro652Thr) c.2074C>A (p.Pro692Thr) c.2328C>A c.1570C>A (p.Pro524Thr) c.1951C>A (p.Pro651Thr) c.1606+223C>A (n.1606+223C>A) c.1693C>A (p.Pro565Thr) n.2084C>A n.2191C>A n.2051C>A | |
19 | g.11120456C>G | CA404093795 | LDLR | c.2332C>G (p.Pro778Ala) c.*143C>G (n.*143C>G) c.1954C>G (p.Pro652Ala) c.2074C>G (p.Pro692Ala) c.2328C>G c.1570C>G (p.Pro524Ala) c.1951C>G (p.Pro651Ala) c.1606+223C>G (n.1606+223C>G) c.1693C>G (p.Pro565Ala) n.2084C>G n.2191C>G n.2051C>G | |
19 | g.11120456C>T | CA404093796 | LDLR | c.2332C>T (p.Pro778Ser) c.*143C>T (n.*143C>T) c.1954C>T (p.Pro652Ser) c.2074C>T (p.Pro692Ser) c.2328C>T c.1570C>T (p.Pro524Ser) c.1951C>T (p.Pro651Ser) c.1606+223C>T (n.1606+223C>T) c.1693C>T (p.Pro565Ser) n.2084C>T n.2191C>T n.2051C>T | |
19 | g.11120457C>A | CA404093798 | LDLR | c.2333C>A (p.Pro778His) c.*144C>A (n.*144C>A) c.1955C>A (p.Pro652His) c.2075C>A (p.Pro692His) c.2329C>A c.1571C>A (p.Pro524His) c.1952C>A (p.Pro651His) c.1606+224C>A (n.1606+224C>A) c.1694C>A (p.Pro565His) n.2085C>A n.2192C>A n.2052C>A | |
19 | g.11120457C= | CA2322775614 | LDLR | c.2333C= (p.Pro778=) c.*144C= (n.*144C=) c.1955C= (p.Pro652=) c.2075C= (p.Pro692=) c.2329C= c.1571C= (p.Pro524=) c.1952C= (p.Pro651=) c.1606+224C= (n.1606+224C=) c.1694C= (p.Pro565=) n.2085C= n.2192C= n.2052C= | |
19 | g.11120457C>G | CA404093800 | LDLR | c.2333C>G (p.Pro778Arg) c.*144C>G (n.*144C>G) c.1955C>G (p.Pro652Arg) c.2075C>G (p.Pro692Arg) c.2329C>G c.1571C>G (p.Pro524Arg) c.1952C>G (p.Pro651Arg) c.1606+224C>G (n.1606+224C>G) c.1694C>G (p.Pro565Arg) n.2085C>G n.2192C>G n.2052C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11120457C>T | CA404093802 | LDLR | c.2333C>T (p.Pro778Leu) c.*144C>T (n.*144C>T) c.1955C>T (p.Pro652Leu) c.2075C>T (p.Pro692Leu) c.2329C>T c.1571C>T (p.Pro524Leu) c.1952C>T (p.Pro651Leu) c.1606+224C>T (n.1606+224C>T) c.1694C>T (p.Pro565Leu) n.2085C>T n.2192C>T n.2052C>T | |
19 | g.11120458C>A | CA505486561 | LDLR | c.2334C>A (p.Pro778=) c.*145C>A (n.*145C>A) c.1956C>A (p.Pro652=) c.2076C>A (p.Pro692=) c.2330C>A c.1572C>A (p.Pro524=) c.1953C>A (p.Pro651=) c.1606+225C>A (n.1606+225C>A) c.1695C>A (p.Pro565=) n.2086C>A n.2193C>A n.2053C>A | |
19 | g.11120458C= | CA2322775616 | LDLR | c.2334C= (p.Pro778=) c.*145C= (n.*145C=) c.1956C= (p.Pro652=) c.2076C= (p.Pro692=) c.2330C= c.1572C= (p.Pro524=) c.1953C= (p.Pro651=) c.1606+225C= (n.1606+225C=) c.1695C= (p.Pro565=) n.2086C= n.2193C= n.2053C= | |
19 | g.11120458C>G | CA505486562 | LDLR | c.2334C>G (p.Pro778=) c.*145C>G (n.*145C>G) c.1956C>G (p.Pro652=) c.2076C>G (p.Pro692=) c.2330C>G c.1572C>G (p.Pro524=) c.1953C>G (p.Pro651=) c.1606+225C>G (n.1606+225C>G) c.1695C>G (p.Pro565=) n.2086C>G n.2193C>G n.2053C>G | ClinVar |
19 | g.11120458C>T | CA505486563 | LDLR | c.2334C>T (p.Pro778=) c.*145C>T (n.*145C>T) c.1956C>T (p.Pro652=) c.2076C>T (p.Pro692=) c.2330C>T c.1572C>T (p.Pro524=) c.1953C>T (p.Pro651=) c.1606+225C>T (n.1606+225C>T) c.1695C>T (p.Pro565=) n.2086C>T n.2193C>T n.2053C>T | ClinVar |
19 | g.11120458_11120460delinsCAA | CA2322775615 | LDLR | c.2334_2336delinsCAA (p.Pro778=) c.*145_*147delinsCAA (n.*145_*147delinsCAA) c.1956_1958delinsCAA (p.Pro652=) c.2076_2078delinsCAA (p.Pro692=) c.2330_2332delinsCAA c.1572_1574delinsCAA (p.Pro524=) c.1953_1955delinsCAA (p.Pro651=) c.1606+225_1606+227delinsCAA (n.1606+225_1606+227delinsCAA) c.1695_1697delinsCAA (p.Pro565=) n.2086_2088delinsCAA n.2193_2195delinsCAA n.2053_2055delinsCAA | |
19 | g.11120459A>C | CA404093809 | LDLR | c.2335A>C (p.Lys779Gln) c.*146A>C (n.*146A>C) c.1957A>C (p.Lys653Gln) c.2077A>C (p.Lys693Gln) c.2331A>C c.1573A>C (p.Lys525Gln) c.1954A>C (p.Lys652Gln) c.1606+226A>C (n.1606+226A>C) c.1696A>C (p.Lys566Gln) n.2087A>C n.2194A>C n.2054A>C | ClinVar |
19 | g.11120459A>G | CA404093807 | LDLR | c.2335A>G (p.Lys779Glu) c.*146A>G (n.*146A>G) c.1957A>G (p.Lys653Glu) c.2077A>G (p.Lys693Glu) c.2331A>G c.1573A>G (p.Lys525Glu) c.1954A>G (p.Lys652Glu) c.1606+226A>G (n.1606+226A>G) c.1696A>G (p.Lys566Glu) n.2087A>G n.2194A>G n.2054A>G | |
19 | g.11120459A>T | CA404093811 | LDLR | c.2335A>T (p.Lys779Ter) c.*146A>T (n.*146A>T) c.1957A>T (p.Lys653Ter) c.2077A>T (p.Lys693Ter) c.2331A>T c.1573A>T (p.Lys525Ter) c.1954A>T (p.Lys652Ter) c.1606+226A>T (n.1606+226A>T) c.1696A>T (p.Lys566Ter) n.2087A>T n.2194A>T n.2054A>T | |
19 | g.11120459_11120460del | CA10585761 | LDLR | c.2335_2336del (p.Lys779ValfsTer23) c.*146_*147del (n.*146_*147del) c.1957_1958del (p.Lys653ValfsTer23) c.2077_2078del (p.Lys693ValfsTer23) c.2331_2332del c.1573_1574del (p.Lys525ValfsTer23) c.1954_1955del (p.Lys652ValfsTer23) c.1606+226_1606+227del (n.1606+226_1606+227del) c.1696_1697del (p.Lys566ValfsTer23) n.2087_2088del n.2194_2195del n.2054_2055del | ClinVar dbSNP |
19 | g.11120460dup | CA16602345 | LDLR | c.2336dup (p.Phe780ValfsTer23) c.*147dup (n.*147dup) c.1958dup (p.Phe654ValfsTer23) c.2078dup (p.Phe694ValfsTer23) c.2332dup c.1574dup (p.Phe526ValfsTer23) c.1955dup (p.Phe653ValfsTer23) c.1606+227dup (n.1606+227dup) c.1697dup (p.Phe567ValfsTer23) n.2088dup n.2195dup n.2055dup | ClinVar dbSNP |
19 | g.11120460A= | CA2322775617 | LDLR | c.2336A= (p.Lys779=) c.*147A= (n.*147A=) c.1958A= (p.Lys653=) c.2078A= (p.Lys693=) c.2332A= c.1574A= (p.Lys525=) c.1955A= (p.Lys652=) c.1606+227A= (n.1606+227A=) c.1697A= (p.Lys566=) n.2088A= n.2195A= n.2055A= | |
19 | g.11120460A>C | CA404093817 | LDLR | c.2336A>C (p.Lys779Thr) c.*147A>C (n.*147A>C) c.1958A>C (p.Lys653Thr) c.2078A>C (p.Lys693Thr) c.2332A>C c.1574A>C (p.Lys525Thr) c.1955A>C (p.Lys652Thr) c.1606+227A>C (n.1606+227A>C) c.1697A>C (p.Lys566Thr) n.2088A>C n.2195A>C n.2055A>C | gnomAD v4 |
19 | g.11120460A>G | CA404093815 | LDLR | c.2336A>G (p.Lys779Arg) c.*147A>G (n.*147A>G) c.1958A>G (p.Lys653Arg) c.2078A>G (p.Lys693Arg) c.2332A>G c.1574A>G (p.Lys525Arg) c.1955A>G (p.Lys652Arg) c.1606+227A>G (n.1606+227A>G) c.1697A>G (p.Lys566Arg) n.2088A>G n.2195A>G n.2055A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11120460A>T | CA404093819 | LDLR | c.2336A>T (p.Lys779Met) c.*147A>T (n.*147A>T) c.1958A>T (p.Lys653Met) c.2078A>T (p.Lys693Met) c.2332A>T c.1574A>T (p.Lys525Met) c.1955A>T (p.Lys652Met) c.1606+227A>T (n.1606+227A>T) c.1697A>T (p.Lys566Met) n.2088A>T n.2195A>T n.2055A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11120461_11120465del | CA2497030147 | LDLR | c.2337_2341del (p.Lys779AsnfsTer22) c.*148_*152del (n.*148_*152del) c.1959_1963del (p.Lys653AsnfsTer22) c.2079_2083del (p.Lys693AsnfsTer22) c.2333_2337del c.1575_1579del (p.Lys525AsnfsTer22) c.1956_1960del (p.Lys652AsnfsTer22) c.1606+228_1606+232del (n.1606+228_1606+232del) c.1698_1702del (p.Lys566AsnfsTer22) n.2089_2093del n.2196_2200del n.2056_2060del | |
19 | g.11120461G>A | CA038481 | LDLR | c.2337G>A (p.Lys779=) c.*148G>A (n.*148G>A) c.1959G>A (p.Lys653=) c.2079G>A (p.Lys693=) c.2333G>A c.1575G>A (p.Lys525=) c.1956G>A (p.Lys652=) c.1606+228G>A (n.1606+228G>A) c.1698G>A (p.Lys566=) n.2089G>A n.2196G>A n.2056G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120461G>C | CA404093826 | LDLR | c.2337G>C (p.Lys779Asn) c.*148G>C (n.*148G>C) c.1959G>C (p.Lys653Asn) c.2079G>C (p.Lys693Asn) c.2333G>C c.1575G>C (p.Lys525Asn) c.1956G>C (p.Lys652Asn) c.1606+228G>C (n.1606+228G>C) c.1698G>C (p.Lys566Asn) n.2089G>C n.2196G>C n.2056G>C | |
19 | g.11120461G= | CA2322775618 | LDLR | c.2337G= (p.Lys779=) c.*148G= (n.*148G=) c.1959G= (p.Lys653=) c.2079G= (p.Lys693=) c.2333G= c.1575G= (p.Lys525=) c.1956G= (p.Lys652=) c.1606+228G= (n.1606+228G=) c.1698G= (p.Lys566=) n.2089G= n.2196G= n.2056G= | |
19 | g.11120461G>T | CA404093823 | LDLR | c.2337G>T (p.Lys779Asn) c.*148G>T (n.*148G>T) c.1959G>T (p.Lys653Asn) c.2079G>T (p.Lys693Asn) c.2333G>T c.1575G>T (p.Lys525Asn) c.1956G>T (p.Lys652Asn) c.1606+228G>T (n.1606+228G>T) c.1698G>T (p.Lys566Asn) n.2089G>T n.2196G>T n.2056G>T | |
19 | g.11120462T>A | CA404093828 | LDLR | c.2338T>A (p.Phe780Ile) c.*149T>A (n.*149T>A) c.1960T>A (p.Phe654Ile) c.2080T>A (p.Phe694Ile) c.2334T>A c.1576T>A (p.Phe526Ile) c.1957T>A (p.Phe653Ile) c.1606+229T>A (n.1606+229T>A) c.1699T>A (p.Phe567Ile) n.2090T>A n.2197T>A n.2057T>A | |
19 | g.11120462T>C | CA404093831 | LDLR | c.2338T>C (p.Phe780Leu) c.*149T>C (n.*149T>C) c.1960T>C (p.Phe654Leu) c.2080T>C (p.Phe694Leu) c.2334T>C c.1576T>C (p.Phe526Leu) c.1957T>C (p.Phe653Leu) c.1606+229T>C (n.1606+229T>C) c.1699T>C (p.Phe567Leu) n.2090T>C n.2197T>C n.2057T>C | |
19 | g.11120462T>G | CA10585762 | LDLR | c.2338T>G (p.Phe780Val) c.*149T>G (n.*149T>G) c.1960T>G (p.Phe654Val) c.2080T>G (p.Phe694Val) c.2334T>G c.1576T>G (p.Phe526Val) c.1957T>G (p.Phe653Val) c.1606+229T>G (n.1606+229T>G) c.1699T>G (p.Phe567Val) n.2090T>G n.2197T>G n.2057T>G | ClinVar dbSNP |
19 | g.11120462T= | CA2322775619 | LDLR | c.2338T= (p.Phe780=) c.*149T= (n.*149T=) c.1960T= (p.Phe654=) c.2080T= (p.Phe694=) c.2334T= c.1576T= (p.Phe526=) c.1957T= (p.Phe653=) c.1606+229T= (n.1606+229T=) c.1699T= (p.Phe567=) n.2090T= n.2197T= n.2057T= | |
19 | g.11120463T>A | CA404093834 | LDLR | c.2339T>A (p.Phe780Tyr) c.*150T>A (n.*150T>A) c.1961T>A (p.Phe654Tyr) c.2081T>A (p.Phe694Tyr) c.2335T>A c.1577T>A (p.Phe526Tyr) c.1958T>A (p.Phe653Tyr) c.1606+230T>A (n.1606+230T>A) c.1700T>A (p.Phe567Tyr) n.2091T>A n.2198T>A n.2058T>A | |
19 | g.11120463T>C | CA404093838 | LDLR | c.2339T>C (p.Phe780Ser) c.*150T>C (n.*150T>C) c.1961T>C (p.Phe654Ser) c.2081T>C (p.Phe694Ser) c.2335T>C c.1577T>C (p.Phe526Ser) c.1958T>C (p.Phe653Ser) c.1606+230T>C (n.1606+230T>C) c.1700T>C (p.Phe567Ser) n.2091T>C n.2198T>C n.2058T>C | |
19 | g.11120463T>G | CA404093836 | LDLR | c.2339T>G (p.Phe780Cys) c.*150T>G (n.*150T>G) c.1961T>G (p.Phe654Cys) c.2081T>G (p.Phe694Cys) c.2335T>G c.1577T>G (p.Phe526Cys) c.1958T>G (p.Phe653Cys) c.1606+230T>G (n.1606+230T>G) c.1700T>G (p.Phe567Cys) n.2091T>G n.2198T>G n.2058T>G | |
19 | g.11120464T>A | CA404093840 | LDLR | c.2340T>A (p.Phe780Leu) c.*151T>A (n.*151T>A) c.1962T>A (p.Phe654Leu) c.2082T>A (p.Phe694Leu) c.2336T>A c.1578T>A (p.Phe526Leu) c.1959T>A (p.Phe653Leu) c.1606+231T>A (n.1606+231T>A) c.1701T>A (p.Phe567Leu) n.2092T>A n.2199T>A n.2059T>A | |
19 | g.11120464T>C | CA505486570 | LDLR | c.2340T>C (p.Phe780=) c.*151T>C (n.*151T>C) c.1962T>C (p.Phe654=) c.2082T>C (p.Phe694=) c.2336T>C c.1578T>C (p.Phe526=) c.1959T>C (p.Phe653=) c.1606+231T>C (n.1606+231T>C) c.1701T>C (p.Phe567=) n.2092T>C n.2199T>C n.2059T>C | gnomAD v4 |
19 | g.11120464T>G | CA404093842 | LDLR | c.2340T>G (p.Phe780Leu) c.*151T>G (n.*151T>G) c.1962T>G (p.Phe654Leu) c.2082T>G (p.Phe694Leu) c.2336T>G c.1578T>G (p.Phe526Leu) c.1959T>G (p.Phe653Leu) c.1606+231T>G (n.1606+231T>G) c.1701T>G (p.Phe567Leu) n.2092T>G n.2199T>G n.2059T>G | |
19 | g.11120464_11120481del | CA2573050619 | LDLR | c.2340_2357del (p.Thr781_Asp786del) c.*151_*168del (n.*151_*168del) c.1962_1979del (p.Thr655_Asp660del) c.2082_2099del (p.Thr695_Asp700del) c.2336_2353del c.1578_1595del (p.Thr527_Asp532del) c.1959_1976del (p.Thr654_Asp659del) c.1606+231_1606+248del (n.1606+231_1606+248del) c.1701_1718del (p.Thr568_Asp573del) n.2092_2109del n.2199_2216del n.2059_2076del | |
19 | g.11120465A= | CA2322775622 | LDLR | c.2341A= (p.Thr781=) c.*152A= (n.*152A=) c.1963A= (p.Thr655=) c.2083A= (p.Thr695=) c.2337A= c.1579A= (p.Thr527=) c.1960A= (p.Thr654=) c.1606+232A= (n.1606+232A=) c.1702A= (p.Thr568=) n.2093A= n.2200A= n.2060A= | |
19 | g.11120465A>C | CA404093845 | LDLR | c.2341A>C (p.Thr781Pro) c.*152A>C (n.*152A>C) c.1963A>C (p.Thr655Pro) c.2083A>C (p.Thr695Pro) c.2337A>C c.1579A>C (p.Thr527Pro) c.1960A>C (p.Thr654Pro) c.1606+232A>C (n.1606+232A>C) c.1702A>C (p.Thr568Pro) n.2093A>C n.2200A>C n.2060A>C | ClinVar dbSNP |
19 | g.11120465A>G | CA404093848 | LDLR | c.2341A>G (p.Thr781Ala) c.*152A>G (n.*152A>G) c.1963A>G (p.Thr655Ala) c.2083A>G (p.Thr695Ala) c.2337A>G c.1579A>G (p.Thr527Ala) c.1960A>G (p.Thr654Ala) c.1606+232A>G (n.1606+232A>G) c.1702A>G (p.Thr568Ala) n.2093A>G n.2200A>G n.2060A>G | ClinVar dbSNP |
19 | g.11120465A>T | CA404093850 | LDLR | c.2341A>T (p.Thr781Ser) c.*152A>T (n.*152A>T) c.1963A>T (p.Thr655Ser) c.2083A>T (p.Thr695Ser) c.2337A>T c.1579A>T (p.Thr527Ser) c.1960A>T (p.Thr654Ser) c.1606+232A>T (n.1606+232A>T) c.1702A>T (p.Thr568Ser) n.2093A>T n.2200A>T n.2060A>T | |
19 | g.11120465_11120466delinsAC | CA2322775621 | LDLR | c.2341_2342delinsAC (p.Thr781=) c.*152_*153delinsAC (n.*152_*153delinsAC) c.1963_1964delinsAC (p.Thr655=) c.2083_2084delinsAC (p.Thr695=) c.2337_2338delinsAC c.1579_1580delinsAC (p.Thr527=) c.1960_1961delinsAC (p.Thr654=) c.1606+232_1606+233delinsAC (n.1606+232_1606+233delinsAC) c.1702_1703delinsAC (p.Thr568=) n.2093_2094delinsAC n.2200_2201delinsAC n.2060_2061delinsAC | |
19 | g.11120465_11120484delinsACCTGCGCCTGCCCGGACGG | CA2322775620 | LDLR | c.2341_2360delinsACCTGCGCCTGCCCGGACGG (p.Thr781=) c.*152_*171delinsACCTGCGCCTGCCCGGACGG (n.*152_*171delinsACCTGCGCCTGCCCGGACGG) c.1963_1982delinsACCTGCGCCTGCCCGGACGG (p.Thr655=) c.2083_2102delinsACCTGCGCCTGCCCGGACGG (p.Thr695=) c.2337_2356delinsACCTGCGCCTGCCCGGACGG c.1579_1598delinsACCTGCGCCTGCCCGGACGG (p.Thr527=) c.1960_1979delinsACCTGCGCCTGCCCGGACGG (p.Thr654=) c.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG (n.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG) c.1702_1721delinsACCTGCGCCTGCCCGGACGG (p.Thr568=) n.2093_2112delinsACCTGCGCCTGCCCGGACGG n.2200_2219delinsACCTGCGCCTGCCCGGACGG n.2060_2079delinsACCTGCGCCTGCCCGGACGG | |
19 | g.11120466C>A | CA404093853 | LDLR | c.2342C>A (p.Thr781Asn) c.*153C>A (n.*153C>A) c.1964C>A (p.Thr655Asn) c.2084C>A (p.Thr695Asn) c.2338C>A c.1580C>A (p.Thr527Asn) c.1961C>A (p.Thr654Asn) c.1606+233C>A (n.1606+233C>A) c.1703C>A (p.Thr568Asn) n.2094C>A n.2201C>A n.2061C>A | gnomAD v4 |
19 | g.11120466C>G | CA404093855 | LDLR | c.2342C>G (p.Thr781Ser) c.*153C>G (n.*153C>G) c.1964C>G (p.Thr655Ser) c.2084C>G (p.Thr695Ser) c.2338C>G c.1580C>G (p.Thr527Ser) c.1961C>G (p.Thr654Ser) c.1606+233C>G (n.1606+233C>G) c.1703C>G (p.Thr568Ser) n.2094C>G n.2201C>G n.2061C>G | |
19 | g.11120466C>T | CA404093857 | LDLR | c.2342C>T (p.Thr781Ile) c.*153C>T (n.*153C>T) c.1964C>T (p.Thr655Ile) c.2084C>T (p.Thr695Ile) c.2338C>T c.1580C>T (p.Thr527Ile) c.1961C>T (p.Thr654Ile) c.1606+233C>T (n.1606+233C>T) c.1703C>T (p.Thr568Ile) n.2094C>T n.2201C>T n.2061C>T | |
19 | g.11120467del | CA16602346 | LDLR | c.2343del (p.Cys782AlafsTer13) c.*154del (n.*154del) c.1965del (p.Cys656AlafsTer13) c.2085del (p.Cys696AlafsTer13) c.2339del c.1581del (p.Cys528AlafsTer13) c.1962del (p.Cys655AlafsTer13) c.1606+234del (n.1606+234del) c.1704del (p.Cys569AlafsTer13) n.2095del n.2202del n.2062del | ClinVar dbSNP |
19 | g.11120467_11120485del | CA10585763 | LDLR | c.2343_2361del (p.Ala783CysfsTer6) c.*154_*172del (n.*154_*172del) c.1965_1983del (p.Ala657CysfsTer6) c.2085_2103del (p.Ala697CysfsTer6) c.2339_2357del c.1581_1599del (p.Ala529CysfsTer6) c.1962_1980del (p.Ala656CysfsTer6) c.1606+234_1606+252del (n.1606+234_1606+252del) c.1704_1722del (p.Ala570CysfsTer6) n.2095_2113del n.2202_2220del n.2062_2080del | ClinVar dbSNP |
19 | g.11120467C>A | CA505486572 | LDLR | c.2343C>A (p.Thr781=) c.*154C>A (n.*154C>A) c.1965C>A (p.Thr655=) c.2085C>A (p.Thr695=) c.2339C>A c.1581C>A (p.Thr527=) c.1962C>A (p.Thr654=) c.1606+234C>A (n.1606+234C>A) c.1704C>A (p.Thr568=) n.2095C>A n.2202C>A n.2062C>A | |
19 | g.11120467C>G | CA505486574 | LDLR | c.2343C>G (p.Thr781=) c.*154C>G (n.*154C>G) c.1965C>G (p.Thr655=) c.2085C>G (p.Thr695=) c.2339C>G c.1581C>G (p.Thr527=) c.1962C>G (p.Thr654=) c.1606+234C>G (n.1606+234C>G) c.1704C>G (p.Thr568=) n.2095C>G n.2202C>G n.2062C>G | |
19 | g.11120467C>T | CA505486576 | LDLR | c.2343C>T (p.Thr781=) c.*154C>T (n.*154C>T) c.1965C>T (p.Thr655=) c.2085C>T (p.Thr695=) c.2339C>T c.1581C>T (p.Thr527=) c.1962C>T (p.Thr654=) c.1606+234C>T (n.1606+234C>T) c.1704C>T (p.Thr568=) n.2095C>T n.2202C>T n.2062C>T | ClinVar |
19 | g.11120468T>A | CA404093862 | LDLR | c.2344T>A (p.Cys782Ser) c.*155T>A (n.*155T>A) c.1966T>A (p.Cys656Ser) c.2086T>A (p.Cys696Ser) c.2340T>A c.1582T>A (p.Cys528Ser) c.1963T>A (p.Cys655Ser) c.1606+235T>A (n.1606+235T>A) c.1705T>A (p.Cys569Ser) n.2096T>A n.2203T>A n.2063T>A | ClinVar |
19 | g.11120468T>C | CA404093864 | LDLR | c.2344T>C (p.Cys782Arg) c.*155T>C (n.*155T>C) c.1966T>C (p.Cys656Arg) c.2086T>C (p.Cys696Arg) c.2340T>C c.1582T>C (p.Cys528Arg) c.1963T>C (p.Cys655Arg) c.1606+235T>C (n.1606+235T>C) c.1705T>C (p.Cys569Arg) n.2096T>C n.2203T>C n.2063T>C | ClinVar dbSNP |
19 | g.11120468T>G | CA404093866 | LDLR | c.2344T>G (p.Cys782Gly) c.*155T>G (n.*155T>G) c.1966T>G (p.Cys656Gly) c.2086T>G (p.Cys696Gly) c.2340T>G c.1582T>G (p.Cys528Gly) c.1963T>G (p.Cys655Gly) c.1606+235T>G (n.1606+235T>G) c.1705T>G (p.Cys569Gly) n.2096T>G n.2203T>G n.2063T>G | ClinVar |
19 | g.11120468T= | CA2322775623 | LDLR | c.2344T= (p.Cys782=) c.*155T= (n.*155T=) c.1966T= (p.Cys656=) c.2086T= (p.Cys696=) c.2340T= c.1582T= (p.Cys528=) c.1963T= (p.Cys655=) c.1606+235T= (n.1606+235T=) c.1705T= (p.Cys569=) n.2096T= n.2203T= n.2063T= | |
19 | g.11120469G>A | CA10585764 | LDLR | c.2345G>A (p.Cys782Tyr) c.*156G>A (n.*156G>A) c.1967G>A (p.Cys656Tyr) c.2087G>A (p.Cys696Tyr) c.2341G>A c.1583G>A (p.Cys528Tyr) c.1964G>A (p.Cys655Tyr) c.1606+236G>A (n.1606+236G>A) c.1706G>A (p.Cys569Tyr) n.2097G>A n.2204G>A n.2064G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120469G>C | CA404093870 | LDLR | c.2345G>C (p.Cys782Ser) c.*156G>C (n.*156G>C) c.1967G>C (p.Cys656Ser) c.2087G>C (p.Cys696Ser) c.2341G>C c.1583G>C (p.Cys528Ser) c.1964G>C (p.Cys655Ser) c.1606+236G>C (n.1606+236G>C) c.1706G>C (p.Cys569Ser) n.2097G>C n.2204G>C n.2064G>C | |
19 | g.11120469G= | CA2322775624 | LDLR | c.2345G= (p.Cys782=) c.*156G= (n.*156G=) c.1967G= (p.Cys656=) c.2087G= (p.Cys696=) c.2341G= c.1583G= (p.Cys528=) c.1964G= (p.Cys655=) c.1606+236G= (n.1606+236G=) c.1706G= (p.Cys569=) n.2097G= n.2204G= n.2064G= | |
19 | g.11120469G>T | CA404093868 | LDLR | c.2345G>T (p.Cys782Phe) c.*156G>T (n.*156G>T) c.1967G>T (p.Cys656Phe) c.2087G>T (p.Cys696Phe) c.2341G>T c.1583G>T (p.Cys528Phe) c.1964G>T (p.Cys655Phe) c.1606+236G>T (n.1606+236G>T) c.1706G>T (p.Cys569Phe) n.2097G>T n.2204G>T n.2064G>T | ClinVar dbSNP |
19 | g.11120470C>A | CA10585765 | LDLR | c.2346C>A (p.Cys782Ter) c.*157C>A (n.*157C>A) c.1968C>A (p.Cys656Ter) c.2088C>A (p.Cys696Ter) c.2342C>A c.1584C>A (p.Cys528Ter) c.1965C>A (p.Cys655Ter) c.1606+237C>A (n.1606+237C>A) c.1707C>A (p.Cys569Ter) n.2098C>A n.2205C>A n.2065C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120470C= | CA2322775625 | LDLR | c.2346C= (p.Cys782=) c.*157C= (n.*157C=) c.1968C= (p.Cys656=) c.2088C= (p.Cys696=) c.2342C= c.1584C= (p.Cys528=) c.1965C= (p.Cys655=) c.1606+237C= (n.1606+237C=) c.1707C= (p.Cys569=) n.2098C= n.2205C= n.2065C= | |
19 | g.11120470C>G | CA10585766 | LDLR | c.2346C>G (p.Cys782Trp) c.*157C>G (n.*157C>G) c.1968C>G (p.Cys656Trp) c.2088C>G (p.Cys696Trp) c.2342C>G c.1584C>G (p.Cys528Trp) c.1965C>G (p.Cys655Trp) c.1606+237C>G (n.1606+237C>G) c.1707C>G (p.Cys569Trp) n.2098C>G n.2205C>G n.2065C>G | ClinVar dbSNP |
19 | g.11120470C>T | CA038494 | LDLR | c.2346C>T (p.Cys782=) c.*157C>T (n.*157C>T) c.1968C>T (p.Cys656=) c.2088C>T (p.Cys696=) c.2342C>T c.1584C>T (p.Cys528=) c.1965C>T (p.Cys655=) c.1606+237C>T (n.1606+237C>T) c.1707C>T (p.Cys569=) n.2098C>T n.2205C>T n.2065C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120471G>A | CA038513 | LDLR | c.2347G>A (p.Ala783Thr) c.*158G>A (n.*158G>A) c.1969G>A (p.Ala657Thr) c.2089G>A (p.Ala697Thr) c.2343G>A c.1585G>A (p.Ala529Thr) c.1966G>A (p.Ala656Thr) c.1606+238G>A (n.1606+238G>A) c.1708G>A (p.Ala570Thr) n.2099G>A n.2206G>A n.2066G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120471G>C | CA10585767 | LDLR | c.2347G>C (p.Ala783Pro) c.*158G>C (n.*158G>C) c.1969G>C (p.Ala657Pro) c.2089G>C (p.Ala697Pro) c.2343G>C c.1585G>C (p.Ala529Pro) c.1966G>C (p.Ala656Pro) c.1606+238G>C (n.1606+238G>C) c.1708G>C (p.Ala570Pro) n.2099G>C n.2206G>C n.2066G>C | ClinVar dbSNP |
19 | g.11120471G= | CA2322775626 | LDLR | c.2347G= (p.Ala783=) c.*158G= (n.*158G=) c.1969G= (p.Ala657=) c.2089G= (p.Ala697=) c.2343G= c.1585G= (p.Ala529=) c.1966G= (p.Ala656=) c.1606+238G= (n.1606+238G=) c.1708G= (p.Ala570=) n.2099G= n.2206G= n.2066G= | |
19 | g.11120471G>T | CA404093880 | LDLR | c.2347G>T (p.Ala783Ser) c.*158G>T (n.*158G>T) c.1969G>T (p.Ala657Ser) c.2089G>T (p.Ala697Ser) c.2343G>T c.1585G>T (p.Ala529Ser) c.1966G>T (p.Ala656Ser) c.1606+238G>T (n.1606+238G>T) c.1708G>T (p.Ala570Ser) n.2099G>T n.2206G>T n.2066G>T | |
19 | g.11120472C>A | CA404093882 | LDLR | c.2348C>A (p.Ala783Asp) c.*159C>A (n.*159C>A) c.1970C>A (p.Ala657Asp) c.2090C>A (p.Ala697Asp) c.2344C>A c.1586C>A (p.Ala529Asp) c.1967C>A (p.Ala656Asp) c.1606+239C>A (n.1606+239C>A) c.1709C>A (p.Ala570Asp) n.2100C>A n.2207C>A n.2067C>A | |
19 | g.11120472C>G | CA404093884 | LDLR | c.2348C>G (p.Ala783Gly) c.*159C>G (n.*159C>G) c.1970C>G (p.Ala657Gly) c.2090C>G (p.Ala697Gly) c.2344C>G c.1586C>G (p.Ala529Gly) c.1967C>G (p.Ala656Gly) c.1606+239C>G (n.1606+239C>G) c.1709C>G (p.Ala570Gly) n.2100C>G n.2207C>G n.2067C>G | |
19 | g.11120472C>T | CA404093887 | LDLR | c.2348C>T (p.Ala783Val) c.*159C>T (n.*159C>T) c.1970C>T (p.Ala657Val) c.2090C>T (p.Ala697Val) c.2344C>T c.1586C>T (p.Ala529Val) c.1967C>T (p.Ala656Val) c.1606+239C>T (n.1606+239C>T) c.1709C>T (p.Ala570Val) n.2100C>T n.2207C>T n.2067C>T | gnomAD v4 |
19 | g.11120473C>A | CA505486581 | LDLR | c.2349C>A (p.Ala783=) c.*160C>A (n.*160C>A) c.1971C>A (p.Ala657=) c.2091C>A (p.Ala697=) c.2345C>A c.1587C>A (p.Ala529=) c.1968C>A (p.Ala656=) c.1606+240C>A (n.1606+240C>A) c.1710C>A (p.Ala570=) n.2101C>A n.2208C>A n.2068C>A | |
19 | g.11120473C>G | CA505486582 | LDLR | c.2349C>G (p.Ala783=) c.*160C>G (n.*160C>G) c.1971C>G (p.Ala657=) c.2091C>G (p.Ala697=) c.2345C>G c.1587C>G (p.Ala529=) c.1968C>G (p.Ala656=) c.1606+240C>G (n.1606+240C>G) c.1710C>G (p.Ala570=) n.2101C>G n.2208C>G n.2068C>G | |
19 | g.11120473C>T | CA505486583 | LDLR | c.2349C>T (p.Ala783=) c.*160C>T (n.*160C>T) c.1971C>T (p.Ala657=) c.2091C>T (p.Ala697=) c.2345C>T c.1587C>T (p.Ala529=) c.1968C>T (p.Ala656=) c.1606+240C>T (n.1606+240C>T) c.1710C>T (p.Ala570=) n.2101C>T n.2208C>T n.2068C>T | ClinVar |
19 | g.11120473_11120474delinsCT | CA2322775627 | LDLR | c.2349_2350delinsCT (p.Ala783=) c.*160_*161delinsCT (n.*160_*161delinsCT) c.1971_1972delinsCT (p.Ala657=) c.2091_2092delinsCT (p.Ala697=) c.2345_2346delinsCT c.1587_1588delinsCT (p.Ala529=) c.1968_1969delinsCT (p.Ala656=) c.1606+240_1606+241delinsCT (n.1606+240_1606+241delinsCT) c.1710_1711delinsCT (p.Ala570=) n.2101_2102delinsCT n.2208_2209delinsCT n.2068_2069delinsCT | |
19 | g.11120474del | CA10585768 | LDLR | c.2350del (p.Cys784AlafsTer11) c.*161del (n.*161del) c.1972del (p.Cys658AlafsTer11) c.2092del (p.Cys698AlafsTer11) c.2346del c.1588del (p.Cys530AlafsTer11) c.1969del (p.Cys657AlafsTer11) c.1606+241del (n.1606+241del) c.1711del (p.Cys571AlafsTer11) n.2102del n.2209del n.2069del | ClinVar dbSNP |
19 | g.11120474T>A | CA404093894 | LDLR | c.2350T>A (p.Cys784Ser) c.*161T>A (n.*161T>A) c.1972T>A (p.Cys658Ser) c.2092T>A (p.Cys698Ser) c.2346T>A c.1588T>A (p.Cys530Ser) c.1969T>A (p.Cys657Ser) c.1606+241T>A (n.1606+241T>A) c.1711T>A (p.Cys571Ser) n.2102T>A n.2209T>A n.2069T>A | |
19 | g.11120474T>C | CA404093892 | LDLR | c.2350T>C (p.Cys784Arg) c.*161T>C (n.*161T>C) c.1972T>C (p.Cys658Arg) c.2092T>C (p.Cys698Arg) c.2346T>C c.1588T>C (p.Cys530Arg) c.1969T>C (p.Cys657Arg) c.1606+241T>C (n.1606+241T>C) c.1711T>C (p.Cys571Arg) n.2102T>C n.2209T>C n.2069T>C | ClinVar |
19 | g.11120474T>G | CA404093896 | LDLR | c.2350T>G (p.Cys784Gly) c.*161T>G (n.*161T>G) c.1972T>G (p.Cys658Gly) c.2092T>G (p.Cys698Gly) c.2346T>G c.1588T>G (p.Cys530Gly) c.1969T>G (p.Cys657Gly) c.1606+241T>G (n.1606+241T>G) c.1711T>G (p.Cys571Gly) n.2102T>G n.2209T>G n.2069T>G | ClinVar dbSNP |
19 | g.11120474T= | CA2322775628 | LDLR | c.2350T= (p.Cys784=) c.*161T= (n.*161T=) c.1972T= (p.Cys658=) c.2092T= (p.Cys698=) c.2346T= c.1588T= (p.Cys530=) c.1969T= (p.Cys657=) c.1606+241T= (n.1606+241T=) c.1711T= (p.Cys571=) n.2102T= n.2209T= n.2069T= | |
19 | g.11120475G>A | CA10585769 | LDLR | c.2351G>A (p.Cys784Tyr) c.*162G>A (n.*162G>A) c.1973G>A (p.Cys658Tyr) c.2093G>A (p.Cys698Tyr) c.2347G>A c.1589G>A (p.Cys530Tyr) c.1970G>A (p.Cys657Tyr) c.1606+242G>A (n.1606+242G>A) c.1712G>A (p.Cys571Tyr) n.2103G>A n.2210G>A n.2070G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120475G>C | CA404093899 | LDLR | c.2351G>C (p.Cys784Ser) c.*162G>C (n.*162G>C) c.1973G>C (p.Cys658Ser) c.2093G>C (p.Cys698Ser) c.2347G>C c.1589G>C (p.Cys530Ser) c.1970G>C (p.Cys657Ser) c.1606+242G>C (n.1606+242G>C) c.1712G>C (p.Cys571Ser) n.2103G>C n.2210G>C n.2070G>C | ClinVar dbSNP |
19 | g.11120475G= | CA2322775630 | LDLR | c.2351G= (p.Cys784=) c.*162G= (n.*162G=) c.1973G= (p.Cys658=) c.2093G= (p.Cys698=) c.2347G= c.1589G= (p.Cys530=) c.1970G= (p.Cys657=) c.1606+242G= (n.1606+242G=) c.1712G= (p.Cys571=) n.2103G= n.2210G= n.2070G= | |
19 | g.11120475G>T | CA10585770 | LDLR | c.2351G>T (p.Cys784Phe) c.*162G>T (n.*162G>T) c.1973G>T (p.Cys658Phe) c.2093G>T (p.Cys698Phe) c.2347G>T c.1589G>T (p.Cys530Phe) c.1970G>T (p.Cys657Phe) c.1606+242G>T (n.1606+242G>T) c.1712G>T (p.Cys571Phe) n.2103G>T n.2210G>T n.2070G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11120475_11120476delinsGC | CA2322775629 | LDLR | c.2351_2352delinsGC (p.Cys784=) c.*162_*163delinsGC (n.*162_*163delinsGC) c.1973_1974delinsGC (p.Cys658=) c.2093_2094delinsGC (p.Cys698=) c.2347_2348delinsGC c.1589_1590delinsGC (p.Cys530=) c.1970_1971delinsGC (p.Cys657=) c.1606+242_1606+243delinsGC (n.1606+242_1606+243delinsGC) c.1712_1713delinsGC (p.Cys571=) n.2103_2104delinsGC n.2210_2211delinsGC n.2070_2071delinsGC | |
19 | g.11120476C>A | CA404093903 | LDLR | c.2352C>A (p.Cys784Ter) c.*163C>A (n.*163C>A) c.1974C>A (p.Cys658Ter) c.2094C>A (p.Cys698Ter) c.2348C>A c.1590C>A (p.Cys530Ter) c.1971C>A (p.Cys657Ter) c.1606+243C>A (n.1606+243C>A) c.1713C>A (p.Cys571Ter) n.2104C>A n.2211C>A n.2071C>A | ClinVar |
19 | g.11120476C= | CA2322775631 | LDLR | c.2352C= (p.Cys784=) c.*163C= (n.*163C=) c.1974C= (p.Cys658=) c.2094C= (p.Cys698=) c.2348C= c.1590C= (p.Cys530=) c.1971C= (p.Cys657=) c.1606+243C= (n.1606+243C=) c.1713C= (p.Cys571=) n.2104C= n.2211C= n.2071C= | |
19 | g.11120476C>G | CA10585771 | LDLR | c.2352C>G (p.Cys784Trp) c.*163C>G (n.*163C>G) c.1974C>G (p.Cys658Trp) c.2094C>G (p.Cys698Trp) c.2348C>G c.1590C>G (p.Cys530Trp) c.1971C>G (p.Cys657Trp) c.1606+243C>G (n.1606+243C>G) c.1713C>G (p.Cys571Trp) n.2104C>G n.2211C>G n.2071C>G | ClinVar dbSNP |
19 | g.11120476C>T | CA505486585 | LDLR | c.2352C>T (p.Cys784=) c.*163C>T (n.*163C>T) c.1974C>T (p.Cys658=) c.2094C>T (p.Cys698=) c.2348C>T c.1590C>T (p.Cys530=) c.1971C>T (p.Cys657=) c.1606+243C>T (n.1606+243C>T) c.1713C>T (p.Cys571=) n.2104C>T n.2211C>T n.2071C>T | |
19 | g.11120478del | CA10585772 | LDLR | c.2354del (p.Pro785ArgfsTer10) c.*165del (n.*165del) c.1976del (p.Pro659ArgfsTer10) c.2096del (p.Pro699ArgfsTer10) c.2350del c.1592del (p.Pro531ArgfsTer10) c.1973del (p.Pro658ArgfsTer10) c.1606+245del (n.1606+245del) c.1715del (p.Pro572ArgfsTer10) n.2106del n.2213del n.2073del | ClinVar dbSNP |
19 | g.11120477C>A | CA404093909 | LDLR | c.2353C>A (p.Pro785Thr) c.*164C>A (n.*164C>A) c.1975C>A (p.Pro659Thr) c.2095C>A (p.Pro699Thr) c.2349C>A c.1591C>A (p.Pro531Thr) c.1972C>A (p.Pro658Thr) c.1606+244C>A (n.1606+244C>A) c.1714C>A (p.Pro572Thr) n.2105C>A n.2212C>A n.2072C>A | |
19 | g.11120477C>G | CA404093910 | LDLR | c.2353C>G (p.Pro785Ala) c.*164C>G (n.*164C>G) c.1975C>G (p.Pro659Ala) c.2095C>G (p.Pro699Ala) c.2349C>G c.1591C>G (p.Pro531Ala) c.1972C>G (p.Pro658Ala) c.1606+244C>G (n.1606+244C>G) c.1714C>G (p.Pro572Ala) n.2105C>G n.2212C>G n.2072C>G | |
19 | g.11120477C>T | CA404093912 | LDLR | c.2353C>T (p.Pro785Ser) c.*164C>T (n.*164C>T) c.1975C>T (p.Pro659Ser) c.2095C>T (p.Pro699Ser) c.2349C>T c.1591C>T (p.Pro531Ser) c.1972C>T (p.Pro658Ser) c.1606+244C>T (n.1606+244C>T) c.1714C>T (p.Pro572Ser) n.2105C>T n.2212C>T n.2072C>T | ClinVar gnomAD v4 |
19 | g.11120478C>A | CA404093915 | LDLR | c.2354C>A (p.Pro785Gln) c.*165C>A (n.*165C>A) c.1976C>A (p.Pro659Gln) c.2096C>A (p.Pro699Gln) c.2350C>A c.1592C>A (p.Pro531Gln) c.1973C>A (p.Pro658Gln) c.1606+245C>A (n.1606+245C>A) c.1715C>A (p.Pro572Gln) n.2106C>A n.2213C>A n.2073C>A | |
19 | g.11120478C= | CA2322775632 | LDLR | c.2354C= (p.Pro785=) c.*165C= (n.*165C=) c.1976C= (p.Pro659=) c.2096C= (p.Pro699=) c.2350C= c.1592C= (p.Pro531=) c.1973C= (p.Pro658=) c.1606+245C= (n.1606+245C=) c.1715C= (p.Pro572=) n.2106C= n.2213C= n.2073C= | |
19 | g.11120478C>G | CA404093917 | LDLR | c.2354C>G (p.Pro785Arg) c.*165C>G (n.*165C>G) c.1976C>G (p.Pro659Arg) c.2096C>G (p.Pro699Arg) c.2350C>G c.1592C>G (p.Pro531Arg) c.1973C>G (p.Pro658Arg) c.1606+245C>G (n.1606+245C>G) c.1715C>G (p.Pro572Arg) n.2106C>G n.2213C>G n.2073C>G | |
19 | g.11120478C>T | CA038525 | LDLR | c.2354C>T (p.Pro785Leu) c.*165C>T (n.*165C>T) c.1976C>T (p.Pro659Leu) c.2096C>T (p.Pro699Leu) c.2350C>T c.1592C>T (p.Pro531Leu) c.1973C>T (p.Pro658Leu) c.1606+245C>T (n.1606+245C>T) c.1715C>T (p.Pro572Leu) n.2106C>T n.2213C>T n.2073C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120481_11120484dup | CA2580096709 | LDLR | c.2357_2360dup (p.Met788ArgfsTer16) c.*168_*171dup (n.*168_*171dup) c.1979_1982dup (p.Met662ArgfsTer16) c.2099_2102dup (p.Met702ArgfsTer16) c.2353_2356dup c.1595_1598dup (p.Met534ArgfsTer16) c.1976_1979dup (p.Met661ArgfsTer16) c.1606+248_1606+251dup (n.1606+248_1606+251dup) c.1718_1721dup (p.Met575ArgfsTer16) n.2109_2112dup n.2216_2219dup n.2076_2079dup | ClinVar |
19 | g.11120479G>A | CA038535 | LDLR | c.2355G>A (p.Pro785=) c.*166G>A (n.*166G>A) c.1977G>A (p.Pro659=) c.2097G>A (p.Pro699=) c.2351G>A c.1593G>A (p.Pro531=) c.1974G>A (p.Pro658=) c.1606+246G>A (n.1606+246G>A) c.1716G>A (p.Pro572=) n.2107G>A n.2214G>A n.2074G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120479G>C | CA505486590 | LDLR | c.2355G>C (p.Pro785=) c.*166G>C (n.*166G>C) c.1977G>C (p.Pro659=) c.2097G>C (p.Pro699=) c.2351G>C c.1593G>C (p.Pro531=) c.1974G>C (p.Pro658=) c.1606+246G>C (n.1606+246G>C) c.1716G>C (p.Pro572=) n.2107G>C n.2214G>C n.2074G>C | |
19 | g.11120479G= | CA2322775633 | LDLR | c.2355G= (p.Pro785=) c.*166G= (n.*166G=) c.1977G= (p.Pro659=) c.2097G= (p.Pro699=) c.2351G= c.1593G= (p.Pro531=) c.1974G= (p.Pro658=) c.1606+246G= (n.1606+246G=) c.1716G= (p.Pro572=) n.2107G= n.2214G= n.2074G= | |
19 | g.11120479G>T | CA505486591 | LDLR | c.2355G>T (p.Pro785=) c.*166G>T (n.*166G>T) c.1977G>T (p.Pro659=) c.2097G>T (p.Pro699=) c.2351G>T c.1593G>T (p.Pro531=) c.1974G>T (p.Pro658=) c.1606+246G>T (n.1606+246G>T) c.1716G>T (p.Pro572=) n.2107G>T n.2214G>T n.2074G>T | |
19 | g.11120480G>A | CA023633 | LDLR | c.2356G>A (p.Asp786Asn) c.*167G>A (n.*167G>A) c.1978G>A (p.Asp660Asn) c.2098G>A (p.Asp700Asn) c.2352G>A c.1594G>A (p.Asp532Asn) c.1975G>A (p.Asp659Asn) c.1606+247G>A (n.1606+247G>A) c.1717G>A (p.Asp573Asn) n.2108G>A n.2215G>A n.2075G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120480G>C | CA404093919 | LDLR | c.2356G>C (p.Asp786His) c.*167G>C (n.*167G>C) c.1978G>C (p.Asp660His) c.2098G>C (p.Asp700His) c.2352G>C c.1594G>C (p.Asp532His) c.1975G>C (p.Asp659His) c.1606+247G>C (n.1606+247G>C) c.1717G>C (p.Asp573His) n.2108G>C n.2215G>C n.2075G>C | |
19 | g.11120480G= | CA2322775634 | LDLR | c.2356G= (p.Asp786=) c.*167G= (n.*167G=) c.1978G= (p.Asp660=) c.2098G= (p.Asp700=) c.2352G= c.1594G= (p.Asp532=) c.1975G= (p.Asp659=) c.1606+247G= (n.1606+247G=) c.1717G= (p.Asp573=) n.2108G= n.2215G= n.2075G= | |
19 | g.11120480G>T | CA404093920 | LDLR | c.2356G>T (p.Asp786Tyr) c.*167G>T (n.*167G>T) c.1978G>T (p.Asp660Tyr) c.2098G>T (p.Asp700Tyr) c.2352G>T c.1594G>T (p.Asp532Tyr) c.1975G>T (p.Asp659Tyr) c.1606+247G>T (n.1606+247G>T) c.1717G>T (p.Asp573Tyr) n.2108G>T n.2215G>T n.2075G>T | gnomAD v4 |
19 | g.11120481A= | CA2322775635 | LDLR | c.2357A= (p.Asp786=) c.*168A= (n.*168A=) c.1979A= (p.Asp660=) c.2099A= (p.Asp700=) c.2353A= c.1595A= (p.Asp532=) c.1976A= (p.Asp659=) c.1606+248A= (n.1606+248A=) c.1718A= (p.Asp573=) n.2109A= n.2216A= n.2076A= | |
19 | g.11120481A>C | CA404093921 | LDLR | c.2357A>C (p.Asp786Ala) c.*168A>C (n.*168A>C) c.1979A>C (p.Asp660Ala) c.2099A>C (p.Asp700Ala) c.2353A>C c.1595A>C (p.Asp532Ala) c.1976A>C (p.Asp659Ala) c.1606+248A>C (n.1606+248A>C) c.1718A>C (p.Asp573Ala) n.2109A>C n.2216A>C n.2076A>C | |
19 | g.11120481A>G | CA10585773 | LDLR | c.2357A>G (p.Asp786Gly) c.*168A>G (n.*168A>G) c.1979A>G (p.Asp660Gly) c.2099A>G (p.Asp700Gly) c.2353A>G c.1595A>G (p.Asp532Gly) c.1976A>G (p.Asp659Gly) c.1606+248A>G (n.1606+248A>G) c.1718A>G (p.Asp573Gly) n.2109A>G n.2216A>G n.2076A>G | ClinVar dbSNP |
19 | g.11120481A>T | CA404093922 | LDLR | c.2357A>T (p.Asp786Val) c.*168A>T (n.*168A>T) c.1979A>T (p.Asp660Val) c.2099A>T (p.Asp700Val) c.2353A>T c.1595A>T (p.Asp532Val) c.1976A>T (p.Asp659Val) c.1606+248A>T (n.1606+248A>T) c.1718A>T (p.Asp573Val) n.2109A>T n.2216A>T n.2076A>T | |
19 | g.11120482C>A | CA404093923 | LDLR | c.2358C>A (p.Asp786Glu) c.*169C>A (n.*169C>A) c.1980C>A (p.Asp660Glu) c.2100C>A (p.Asp700Glu) c.2354C>A c.1596C>A (p.Asp532Glu) c.1977C>A (p.Asp659Glu) c.1606+249C>A (n.1606+249C>A) c.1719C>A (p.Asp573Glu) n.2110C>A n.2217C>A n.2077C>A | |
19 | g.11120482C= | CA2322775636 | LDLR | c.2358C= (p.Asp786=) c.*169C= (n.*169C=) c.1980C= (p.Asp660=) c.2100C= (p.Asp700=) c.2354C= c.1596C= (p.Asp532=) c.1977C= (p.Asp659=) c.1606+249C= (n.1606+249C=) c.1719C= (p.Asp573=) n.2110C= n.2217C= n.2077C= | |
19 | g.11120482C>G | CA10585774 | LDLR | c.2358C>G (p.Asp786Glu) c.*169C>G (n.*169C>G) c.1980C>G (p.Asp660Glu) c.2100C>G (p.Asp700Glu) c.2354C>G c.1596C>G (p.Asp532Glu) c.1977C>G (p.Asp659Glu) c.1606+249C>G (n.1606+249C>G) c.1719C>G (p.Asp573Glu) n.2110C>G n.2217C>G n.2077C>G | ClinVar dbSNP |
19 | g.11120482C>T | CA038552 | LDLR | c.2358C>T (p.Asp786=) c.*169C>T (n.*169C>T) c.1980C>T (p.Asp660=) c.2100C>T (p.Asp700=) c.2354C>T c.1596C>T (p.Asp532=) c.1977C>T (p.Asp659=) c.1606+249C>T (n.1606+249C>T) c.1719C>T (p.Asp573=) n.2110C>T n.2217C>T n.2077C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120483G>A | CA023635 | LDLR | c.2359G>A (p.Gly787Ser) c.*170G>A (n.*170G>A) c.1981G>A (p.Gly661Ser) c.2101G>A (p.Gly701Ser) c.2355G>A c.1597G>A (p.Gly533Ser) c.1978G>A (p.Gly660Ser) c.1606+250G>A (n.1606+250G>A) c.1720G>A (p.Gly574Ser) n.2111G>A n.2218G>A n.2078G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120483G>C | CA404093924 | LDLR | c.2359G>C (p.Gly787Arg) c.*170G>C (n.*170G>C) c.1981G>C (p.Gly661Arg) c.2101G>C (p.Gly701Arg) c.2355G>C c.1597G>C (p.Gly533Arg) c.1978G>C (p.Gly660Arg) c.1606+250G>C (n.1606+250G>C) c.1720G>C (p.Gly574Arg) n.2111G>C n.2218G>C n.2078G>C | |
19 | g.11120483G= | CA2322775637 | LDLR | c.2359G= (p.Gly787=) c.*170G= (n.*170G=) c.1981G= (p.Gly661=) c.2101G= (p.Gly701=) c.2355G= c.1597G= (p.Gly533=) c.1978G= (p.Gly660=) c.1606+250G= (n.1606+250G=) c.1720G= (p.Gly574=) n.2111G= n.2218G= n.2078G= | |
19 | g.11120483G>T | CA404093925 | LDLR | c.2359G>T (p.Gly787Cys) c.*170G>T (n.*170G>T) c.1981G>T (p.Gly661Cys) c.2101G>T (p.Gly701Cys) c.2355G>T c.1597G>T (p.Gly533Cys) c.1978G>T (p.Gly660Cys) c.1606+250G>T (n.1606+250G>T) c.1720G>T (p.Gly574Cys) n.2111G>T n.2218G>T n.2078G>T | |
19 | g.11120484del | CA2573050620 | LDLR | c.2360del (p.Gly787AlafsTer8) c.*171del (n.*171del) c.1982del (p.Gly661AlafsTer8) c.2102del (p.Gly701AlafsTer8) c.2356del c.1598del (p.Gly533AlafsTer8) c.1979del (p.Gly660AlafsTer8) c.1606+251del (n.1606+251del) c.1721del (p.Gly574AlafsTer8) n.2112del n.2219del n.2079del | |
19 | g.11120484G>A | CA404093927 | LDLR | c.2360G>A (p.Gly787Asp) c.*171G>A (n.*171G>A) c.1982G>A (p.Gly661Asp) c.2102G>A (p.Gly701Asp) c.2356G>A c.1598G>A (p.Gly533Asp) c.1979G>A (p.Gly660Asp) c.1606+251G>A (n.1606+251G>A) c.1721G>A (p.Gly574Asp) n.2112G>A n.2219G>A n.2079G>A | COSMIC |
19 | g.11120484G>C | CA404093928 | LDLR | c.2360G>C (p.Gly787Ala) c.*171G>C (n.*171G>C) c.1982G>C (p.Gly661Ala) c.2102G>C (p.Gly701Ala) c.2356G>C c.1598G>C (p.Gly533Ala) c.1979G>C (p.Gly660Ala) c.1606+251G>C (n.1606+251G>C) c.1721G>C (p.Gly574Ala) n.2112G>C n.2219G>C n.2079G>C | |
19 | g.11120484G>T | CA404093926 | LDLR | c.2360G>T (p.Gly787Val) c.*171G>T (n.*171G>T) c.1982G>T (p.Gly661Val) c.2102G>T (p.Gly701Val) c.2356G>T c.1598G>T (p.Gly533Val) c.1979G>T (p.Gly660Val) c.1606+251G>T (n.1606+251G>T) c.1721G>T (p.Gly574Val) n.2112G>T n.2219G>T n.2079G>T | gnomAD v4 |
19 | g.11120485C>A | CA505486597 | LDLR | c.2361C>A (p.Gly787=) c.*172C>A (n.*172C>A) c.1983C>A (p.Gly661=) c.2103C>A (p.Gly701=) c.2357C>A c.1599C>A (p.Gly533=) c.1980C>A (p.Gly660=) c.1606+252C>A (n.1606+252C>A) c.1722C>A (p.Gly574=) n.2113C>A n.2220C>A n.2080C>A | |
19 | g.11120485C>G | CA505486598 | LDLR | c.2361C>G (p.Gly787=) c.*172C>G (n.*172C>G) c.1983C>G (p.Gly661=) c.2103C>G (p.Gly701=) c.2357C>G c.1599C>G (p.Gly533=) c.1980C>G (p.Gly660=) c.1606+252C>G (n.1606+252C>G) c.1722C>G (p.Gly574=) n.2113C>G n.2220C>G n.2080C>G | |
19 | g.11120485C>T | CA505486600 | LDLR | c.2361C>T (p.Gly787=) c.*172C>T (n.*172C>T) c.1983C>T (p.Gly661=) c.2103C>T (p.Gly701=) c.2357C>T c.1599C>T (p.Gly533=) c.1980C>T (p.Gly660=) c.1606+252C>T (n.1606+252C>T) c.1722C>T (p.Gly574=) n.2113C>T n.2220C>T n.2080C>T | ClinVar dbSNP |
19 | g.11120486A= | CA2322775638 | LDLR | c.2362A= (p.Met788=) c.*173A= (n.*173A=) c.1984A= (p.Met662=) c.2104A= (p.Met702=) c.2358A= c.1600A= (p.Met534=) c.1981A= (p.Met661=) c.1606+253A= (n.1606+253A=) c.1723A= (p.Met575=) n.2114A= n.2221A= n.2081A= | |
19 | g.11120486A>C | CA404093929 | LDLR | c.2362A>C (p.Met788Leu) c.*173A>C (n.*173A>C) c.1984A>C (p.Met662Leu) c.2104A>C (p.Met702Leu) c.2358A>C c.1600A>C (p.Met534Leu) c.1981A>C (p.Met661Leu) c.1606+253A>C (n.1606+253A>C) c.1723A>C (p.Met575Leu) n.2114A>C n.2221A>C n.2081A>C | |
19 | g.11120486A>G | CA038580 | LDLR | c.2362A>G (p.Met788Val) c.*173A>G (n.*173A>G) c.1984A>G (p.Met662Val) c.2104A>G (p.Met702Val) c.2358A>G c.1600A>G (p.Met534Val) c.1981A>G (p.Met661Val) c.1606+253A>G (n.1606+253A>G) c.1723A>G (p.Met575Val) n.2114A>G n.2221A>G n.2081A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120486A>T | CA404093930 | LDLR | c.2362A>T (p.Met788Leu) c.*173A>T (n.*173A>T) c.1984A>T (p.Met662Leu) c.2104A>T (p.Met702Leu) c.2358A>T c.1600A>T (p.Met534Leu) c.1981A>T (p.Met661Leu) c.1606+253A>T (n.1606+253A>T) c.1723A>T (p.Met575Leu) n.2114A>T n.2221A>T n.2081A>T | |
19 | g.11120487T>A | CA404093931 | LDLR | c.2363T>A (p.Met788Lys) c.*174T>A (n.*174T>A) c.1985T>A (p.Met662Lys) c.2105T>A (p.Met702Lys) c.2359T>A c.1601T>A (p.Met534Lys) c.1982T>A (p.Met661Lys) c.1606+254T>A (n.1606+254T>A) c.1724T>A (p.Met575Lys) n.2115T>A n.2222T>A n.2082T>A | |
19 | g.11120487T>C | CA404093932 | LDLR | c.2363T>C (p.Met788Thr) c.*174T>C (n.*174T>C) c.1985T>C (p.Met662Thr) c.2105T>C (p.Met702Thr) c.2359T>C c.1601T>C (p.Met534Thr) c.1982T>C (p.Met661Thr) c.1606+254T>C (n.1606+254T>C) c.1724T>C (p.Met575Thr) n.2115T>C n.2222T>C n.2082T>C | |
19 | g.11120487T>G | CA404093933 | LDLR | c.2363T>G (p.Met788Arg) c.*174T>G (n.*174T>G) c.1985T>G (p.Met662Arg) c.2105T>G (p.Met702Arg) c.2359T>G c.1601T>G (p.Met534Arg) c.1982T>G (p.Met661Arg) c.1606+254T>G (n.1606+254T>G) c.1724T>G (p.Met575Arg) n.2115T>G n.2222T>G n.2082T>G | |
19 | g.11120487_11120494delinsTGCTGCTG | CA2322775639 | LDLR | c.2363_2370delinsTGCTGCTG (p.Met788=) c.*174_*181delinsTGCTGCTG (n.*174_*181delinsTGCTGCTG) c.1985_1992delinsTGCTGCTG (p.Met662=) c.2105_2112delinsTGCTGCTG (p.Met702=) c.2359_2366delinsTGCTGCTG c.1601_1608delinsTGCTGCTG (p.Met534=) c.1982_1989delinsTGCTGCTG (p.Met661=) c.1606+254_1606+261delinsTGCTGCTG (n.1606+254_1606+261delinsTGCTGCTG) c.1724_1731delinsTGCTGCTG (p.Met575=) n.2115_2122delinsTGCTGCTG n.2222_2229delinsTGCTGCTG n.2082_2089delinsTGCTGCTG | |
19 | g.11120488G>A | CA038604 | LDLR | c.2364G>A (p.Met788Ile) c.*175G>A (n.*175G>A) c.1986G>A (p.Met662Ile) c.2106G>A (p.Met702Ile) c.2360G>A c.1602G>A (p.Met534Ile) c.1983G>A (p.Met661Ile) c.1606+255G>A (n.1606+255G>A) c.1725G>A (p.Met575Ile) n.2116G>A n.2223G>A n.2083G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11120488G>C | CA038621 | LDLR | c.2364G>C (p.Met788Ile) c.*175G>C (n.*175G>C) c.1986G>C (p.Met662Ile) c.2106G>C (p.Met702Ile) c.2360G>C c.1602G>C (p.Met534Ile) c.1983G>C (p.Met661Ile) c.1606+255G>C (n.1606+255G>C) c.1725G>C (p.Met575Ile) n.2116G>C n.2223G>C n.2083G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120488G= | CA2322775640 | LDLR | c.2364G= (p.Met788=) c.*175G= (n.*175G=) c.1986G= (p.Met662=) c.2106G= (p.Met702=) c.2360G= c.1602G= (p.Met534=) c.1983G= (p.Met661=) c.1606+255G= (n.1606+255G=) c.1725G= (p.Met575=) n.2116G= n.2223G= n.2083G= | |
19 | g.11120488G>T | CA404093934 | LDLR | c.2364G>T (p.Met788Ile) c.*175G>T (n.*175G>T) c.1986G>T (p.Met662Ile) c.2106G>T (p.Met702Ile) c.2360G>T c.1602G>T (p.Met534Ile) c.1983G>T (p.Met661Ile) c.1606+255G>T (n.1606+255G>T) c.1725G>T (p.Met575Ile) n.2116G>T n.2223G>T n.2083G>T | |
19 | g.11120490_11120496dup | CA10585776 | LDLR | c.2366_2372dup (p.Arg792AlafsTer13) c.*177_*183dup (n.*177_*183dup) c.1988_1994dup (p.Arg666AlafsTer13) c.2108_2114dup (p.Arg706AlafsTer13) c.2362_2368dup c.1604_1610dup (p.Arg538AlafsTer13) c.1985_1991dup (p.Arg665AlafsTer13) c.1606+257_1606+263dup (n.1606+257_1606+263dup) c.1727_1733dup (p.Arg579AlafsTer13) n.2118_2124dup n.2225_2231dup n.2085_2091dup | ClinVar dbSNP |
19 | g.11120490_11120496del | CA1139666244 | LDLR | c.2366_2372del (p.Leu789ProfsTer4) c.*177_*183del (n.*177_*183del) c.1988_1994del (p.Leu663ProfsTer4) c.2108_2114del (p.Leu703ProfsTer4) c.2362_2368del c.1604_1610del (p.Leu535ProfsTer4) c.1985_1991del (p.Leu662ProfsTer4) c.1606+257_1606+263del (n.1606+257_1606+263del) c.1727_1733del (p.Leu576ProfsTer4) n.2118_2124del n.2225_2231del n.2085_2091del | ClinVar dbSNP |
19 | g.11120489C>A | CA404093935 | LDLR | c.2365C>A (p.Leu789Met) c.*176C>A (n.*176C>A) c.1987C>A (p.Leu663Met) c.2107C>A (p.Leu703Met) c.2361C>A c.1603C>A (p.Leu535Met) c.1984C>A (p.Leu662Met) c.1606+256C>A (n.1606+256C>A) c.1726C>A (p.Leu576Met) n.2117C>A n.2224C>A n.2084C>A | |
19 | g.11120489C= | CA2322775641 | LDLR | c.2365C= (p.Leu789=) c.*176C= (n.*176C=) c.1987C= (p.Leu663=) c.2107C= (p.Leu703=) c.2361C= c.1603C= (p.Leu535=) c.1984C= (p.Leu662=) c.1606+256C= (n.1606+256C=) c.1726C= (p.Leu576=) n.2117C= n.2224C= n.2084C= | |
19 | g.11120489C>G | CA404093936 | LDLR | c.2365C>G (p.Leu789Val) c.*176C>G (n.*176C>G) c.1987C>G (p.Leu663Val) c.2107C>G (p.Leu703Val) c.2361C>G c.1603C>G (p.Leu535Val) c.1984C>G (p.Leu662Val) c.1606+256C>G (n.1606+256C>G) c.1726C>G (p.Leu576Val) n.2117C>G n.2224C>G n.2084C>G | |
19 | g.11120489C>T | CA505486604 | LDLR | c.2365C>T (p.Leu789=) c.*176C>T (n.*176C>T) c.1987C>T (p.Leu663=) c.2107C>T (p.Leu703=) c.2361C>T c.1603C>T (p.Leu535=) c.1984C>T (p.Leu662=) c.1606+256C>T (n.1606+256C>T) c.1726C>T (p.Leu576=) n.2117C>T n.2224C>T n.2084C>T | |
19 | g.11120490T>A | CA404093937 | LDLR | c.2366T>A (p.Leu789Gln) c.*177T>A (n.*177T>A) c.1988T>A (p.Leu663Gln) c.2108T>A (p.Leu703Gln) c.2362T>A c.1604T>A (p.Leu535Gln) c.1985T>A (p.Leu662Gln) c.1606+257T>A (n.1606+257T>A) c.1727T>A (p.Leu576Gln) n.2118T>A n.2225T>A n.2085T>A | |
19 | g.11120490T>C | CA404093938 | LDLR | c.2366T>C (p.Leu789Pro) c.*177T>C (n.*177T>C) c.1988T>C (p.Leu663Pro) c.2108T>C (p.Leu703Pro) c.2362T>C c.1604T>C (p.Leu535Pro) c.1985T>C (p.Leu662Pro) c.1606+257T>C (n.1606+257T>C) c.1727T>C (p.Leu576Pro) n.2118T>C n.2225T>C n.2085T>C | |
19 | g.11120490T>G | CA404093939 | LDLR | c.2366T>G (p.Leu789Arg) c.*177T>G (n.*177T>G) c.1988T>G (p.Leu663Arg) c.2108T>G (p.Leu703Arg) c.2362T>G c.1604T>G (p.Leu535Arg) c.1985T>G (p.Leu662Arg) c.1606+257T>G (n.1606+257T>G) c.1727T>G (p.Leu576Arg) n.2118T>G n.2225T>G n.2085T>G | |
19 | g.11120490_11120493dup | CA10585775 | LDLR | c.2366_2369dup (p.Arg792GlyfsTer12) c.*177_*180dup (n.*177_*180dup) c.1988_1991dup (p.Arg666GlyfsTer12) c.2108_2111dup (p.Arg706GlyfsTer12) c.2362_2365dup c.1604_1607dup (p.Arg538GlyfsTer12) c.1985_1988dup (p.Arg665GlyfsTer12) c.1606+257_1606+260dup (n.1606+257_1606+260dup) c.1727_1730dup (p.Arg579GlyfsTer12) n.2118_2121dup n.2225_2228dup n.2085_2088dup | ClinVar dbSNP |
19 | g.11120491G>A | CA038644 | LDLR | c.2367G>A (p.Leu789=) c.*178G>A (n.*178G>A) c.1989G>A (p.Leu663=) c.2109G>A (p.Leu703=) c.2363G>A c.1605G>A (p.Leu535=) c.1986G>A (p.Leu662=) c.1606+258G>A (n.1606+258G>A) c.1728G>A (p.Leu576=) n.2119G>A n.2226G>A n.2086G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120491G>C | CA505486608 | LDLR | c.2367G>C (p.Leu789=) c.*178G>C (n.*178G>C) c.1989G>C (p.Leu663=) c.2109G>C (p.Leu703=) c.2363G>C c.1605G>C (p.Leu535=) c.1986G>C (p.Leu662=) c.1606+258G>C (n.1606+258G>C) c.1728G>C (p.Leu576=) n.2119G>C n.2226G>C n.2086G>C | |
19 | g.11120491G= | CA2322775642 | LDLR | c.2367G= (p.Leu789=) c.*178G= (n.*178G=) c.1989G= (p.Leu663=) c.2109G= (p.Leu703=) c.2363G= c.1605G= (p.Leu535=) c.1986G= (p.Leu662=) c.1606+258G= (n.1606+258G=) c.1728G= (p.Leu576=) n.2119G= n.2226G= n.2086G= | |
19 | g.11120491G>T | CA505486609 | LDLR | c.2367G>T (p.Leu789=) c.*178G>T (n.*178G>T) c.1989G>T (p.Leu663=) c.2109G>T (p.Leu703=) c.2363G>T c.1605G>T (p.Leu535=) c.1986G>T (p.Leu662=) c.1606+258G>T (n.1606+258G>T) c.1728G>T (p.Leu576=) n.2119G>T n.2226G>T n.2086G>T | |
19 | g.11120492C>A | CA404093940 | LDLR | c.2368C>A (p.Leu790Met) c.*179C>A (n.*179C>A) c.1990C>A (p.Leu664Met) c.2110C>A (p.Leu704Met) c.2364C>A c.1606C>A (p.Leu536Met) c.1987C>A (p.Leu663Met) c.1606+259C>A (n.1606+259C>A) c.1729C>A (p.Leu577Met) n.2120C>A n.2227C>A n.2087C>A | |
19 | g.11120492C= | CA2322775643 | LDLR | c.2368C= (p.Leu790=) c.*179C= (n.*179C=) c.1990C= (p.Leu664=) c.2110C= (p.Leu704=) c.2364C= c.1606C= (p.Leu536=) c.1987C= (p.Leu663=) c.1606+259C= (n.1606+259C=) c.1729C= (p.Leu577=) n.2120C= n.2227C= n.2087C= | |
19 | g.11120492C>G | CA404093941 | LDLR | c.2368C>G (p.Leu790Val) c.*179C>G (n.*179C>G) c.1990C>G (p.Leu664Val) c.2110C>G (p.Leu704Val) c.2364C>G c.1606C>G (p.Leu536Val) c.1987C>G (p.Leu663Val) c.1606+259C>G (n.1606+259C>G) c.1729C>G (p.Leu577Val) n.2120C>G n.2227C>G n.2087C>G | |
19 | g.11120492C>T | CA505486615 | LDLR | c.2368C>T (p.Leu790=) c.*179C>T (n.*179C>T) c.1990C>T (p.Leu664=) c.2110C>T (p.Leu704=) c.2364C>T c.1606C>T (p.Leu536=) c.1987C>T (p.Leu663=) c.1606+259C>T (n.1606+259C>T) c.1729C>T (p.Leu577=) n.2120C>T n.2227C>T n.2087C>T | ClinVar dbSNP |
19 | g.11120493T>A | CA404093944 | LDLR | c.2369T>A (p.Leu790Gln) c.*180T>A (n.*180T>A) c.1991T>A (p.Leu664Gln) c.2111T>A (p.Leu704Gln) c.2365T>A c.1607T>A (p.Leu536Gln) c.1988T>A (p.Leu663Gln) c.1606+260T>A (n.1606+260T>A) c.1730T>A (p.Leu577Gln) n.2121T>A n.2228T>A n.2088T>A | |
19 | g.11120493T>C | CA404093942 | LDLR | c.2369T>C (p.Leu790Pro) c.*180T>C (n.*180T>C) c.1991T>C (p.Leu664Pro) c.2111T>C (p.Leu704Pro) c.2365T>C c.1607T>C (p.Leu536Pro) c.1988T>C (p.Leu663Pro) c.1606+260T>C (n.1606+260T>C) c.1730T>C (p.Leu577Pro) n.2121T>C n.2228T>C n.2088T>C | gnomAD v4 |
19 | g.11120493T>G | CA404093943 | LDLR | c.2369T>G (p.Leu790Arg) c.*180T>G (n.*180T>G) c.1991T>G (p.Leu664Arg) c.2111T>G (p.Leu704Arg) c.2365T>G c.1607T>G (p.Leu536Arg) c.1988T>G (p.Leu663Arg) c.1606+260T>G (n.1606+260T>G) c.1730T>G (p.Leu577Arg) n.2121T>G n.2228T>G n.2088T>G | |
19 | g.11120493_11120494delinsTG | CA2322775644 | LDLR | c.2369_2370delinsTG (p.Leu790=) c.*180_*181delinsTG (n.*180_*181delinsTG) c.1991_1992delinsTG (p.Leu664=) c.2111_2112delinsTG (p.Leu704=) c.2365_2366delinsTG c.1607_1608delinsTG (p.Leu536=) c.1988_1989delinsTG (p.Leu663=) c.1606+260_1606+261delinsTG (n.1606+260_1606+261delinsTG) c.1730_1731delinsTG (p.Leu577=) n.2121_2122delinsTG n.2228_2229delinsTG n.2088_2089delinsTG | |
19 | g.11120494G>A | CA505486616 | LDLR | c.2370G>A (p.Leu790=) c.*181G>A (n.*181G>A) c.1992G>A (p.Leu664=) c.2112G>A (p.Leu704=) c.2366G>A c.1608G>A (p.Leu536=) c.1989G>A (p.Leu663=) c.1606+261G>A (n.1606+261G>A) c.1731G>A (p.Leu577=) n.2122G>A n.2229G>A n.2089G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120494G>C | CA505486617 | LDLR | c.2370G>C (p.Leu790=) c.*181G>C (n.*181G>C) c.1992G>C (p.Leu664=) c.2112G>C (p.Leu704=) c.2366G>C c.1608G>C (p.Leu536=) c.1989G>C (p.Leu663=) c.1606+261G>C (n.1606+261G>C) c.1731G>C (p.Leu577=) n.2122G>C n.2229G>C n.2089G>C | |
19 | g.11120494G= | CA2322775645 | LDLR | c.2370G= (p.Leu790=) c.*181G= (n.*181G=) c.1992G= (p.Leu664=) c.2112G= (p.Leu704=) c.2366G= c.1608G= (p.Leu536=) c.1989G= (p.Leu663=) c.1606+261G= (n.1606+261G=) c.1731G= (p.Leu577=) n.2122G= n.2229G= n.2089G= | |
19 | g.11120494G>T | CA505486619 | LDLR | c.2370G>T (p.Leu790=) c.*181G>T (n.*181G>T) c.1992G>T (p.Leu664=) c.2112G>T (p.Leu704=) c.2366G>T c.1608G>T (p.Leu536=) c.1989G>T (p.Leu663=) c.1606+261G>T (n.1606+261G>T) c.1731G>T (p.Leu577=) n.2122G>T n.2229G>T n.2089G>T | |
19 | g.11120495del | CA916081230 | LDLR | c.2371del (p.Ala791ProfsTer4) c.*182del (n.*182del) c.1993del (p.Ala665ProfsTer4) c.2113del (p.Ala705ProfsTer4) c.2367del c.1609del (p.Ala537ProfsTer4) c.1990del (p.Ala664ProfsTer4) c.1606+262del (n.1606+262del) c.1732del (p.Ala578ProfsTer4) n.2123del n.2230del n.2090del | ClinVar dbSNP |
19 | g.11120495G>A | CA404093945 | LDLR | c.2371G>A (p.Ala791Thr) c.*182G>A (n.*182G>A) c.1993G>A (p.Ala665Thr) c.2113G>A (p.Ala705Thr) c.2367G>A c.1609G>A (p.Ala537Thr) c.1990G>A (p.Ala664Thr) c.1606+262G>A (n.1606+262G>A) c.1732G>A (p.Ala578Thr) n.2123G>A n.2230G>A n.2090G>A | gnomAD v4 |
19 | g.11120495G>C | CA023637 | LDLR | c.2371G>C (p.Ala791Pro) c.*182G>C (n.*182G>C) c.1993G>C (p.Ala665Pro) c.2113G>C (p.Ala705Pro) c.2367G>C c.1609G>C (p.Ala537Pro) c.1990G>C (p.Ala664Pro) c.1606+262G>C (n.1606+262G>C) c.1732G>C (p.Ala578Pro) n.2123G>C n.2230G>C n.2090G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120495G= | CA2322775646 | LDLR | c.2371G= (p.Ala791=) c.*182G= (n.*182G=) c.1993G= (p.Ala665=) c.2113G= (p.Ala705=) c.2367G= c.1609G= (p.Ala537=) c.1990G= (p.Ala664=) c.1606+262G= (n.1606+262G=) c.1732G= (p.Ala578=) n.2123G= n.2230G= n.2090G= | |
19 | g.11120495G>T | CA10585777 | LDLR | c.2371G>T (p.Ala791Ser) c.*182G>T (n.*182G>T) c.1993G>T (p.Ala665Ser) c.2113G>T (p.Ala705Ser) c.2367G>T c.1609G>T (p.Ala537Ser) c.1990G>T (p.Ala664Ser) c.1606+262G>T (n.1606+262G>T) c.1732G>T (p.Ala578Ser) n.2123G>T n.2230G>T n.2090G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120496C>A | CA404093946 | LDLR | c.2372C>A (p.Ala791Asp) c.*183C>A (n.*183C>A) c.1994C>A (p.Ala665Asp) c.2114C>A (p.Ala705Asp) c.2368C>A c.1610C>A (p.Ala537Asp) c.1991C>A (p.Ala664Asp) c.1606+263C>A (n.1606+263C>A) c.1733C>A (p.Ala578Asp) n.2124C>A n.2231C>A n.2091C>A | |
19 | g.11120496C>G | CA404093947 | LDLR | c.2372C>G (p.Ala791Gly) c.*183C>G (n.*183C>G) c.1994C>G (p.Ala665Gly) c.2114C>G (p.Ala705Gly) c.2368C>G c.1610C>G (p.Ala537Gly) c.1991C>G (p.Ala664Gly) c.1606+263C>G (n.1606+263C>G) c.1733C>G (p.Ala578Gly) n.2124C>G n.2231C>G n.2091C>G | |
19 | g.11120496C>T | CA404093948 | LDLR | c.2372C>T (p.Ala791Val) c.*183C>T (n.*183C>T) c.1994C>T (p.Ala665Val) c.2114C>T (p.Ala705Val) c.2368C>T c.1610C>T (p.Ala537Val) c.1991C>T (p.Ala664Val) c.1606+263C>T (n.1606+263C>T) c.1733C>T (p.Ala578Val) n.2124C>T n.2231C>T n.2091C>T | ClinVar COSMIC |
19 | g.11120496_11120502delinsG | CA2580096711 | LDLR | c.2372_2378delinsG (p.Ala791_Asp793delinsGly) c.*183_*189delinsG (n.*183_*189delinsG) c.1994_2000delinsG (p.Ala665_Asp667delinsGly) c.2114_2120delinsG (p.Ala705_Asp707delinsGly) c.2368_2374delinsG c.1610_1616delinsG (p.Ala537_Asp539delinsGly) c.1991_1997delinsG (p.Ala664_Asp666delinsGly) c.1606+263_1606+269delinsG (n.1606+263_1606+269delinsG) c.1733_1739delinsG (p.Ala578_Asp580delinsGly) n.2124_2130delinsG n.2231_2237delinsG n.2091_2097delinsG | ClinVar |
19 | g.11120497C>A | CA505486624 | LDLR | c.2373C>A (p.Ala791=) c.*184C>A (n.*184C>A) c.1995C>A (p.Ala665=) c.2115C>A (p.Ala705=) c.2369C>A c.1611C>A (p.Ala537=) c.1992C>A (p.Ala664=) c.1606+264C>A (n.1606+264C>A) c.1734C>A (p.Ala578=) n.2125C>A n.2232C>A n.2092C>A | |
19 | g.11120497C>G | CA505486626 | LDLR | c.2373C>G (p.Ala791=) c.*184C>G (n.*184C>G) c.1995C>G (p.Ala665=) c.2115C>G (p.Ala705=) c.2369C>G c.1611C>G (p.Ala537=) c.1992C>G (p.Ala664=) c.1606+264C>G (n.1606+264C>G) c.1734C>G (p.Ala578=) n.2125C>G n.2232C>G n.2092C>G | gnomAD v4 |
19 | g.11120497C>T | CA505486629 | LDLR | c.2373C>T (p.Ala791=) c.*184C>T (n.*184C>T) c.1995C>T (p.Ala665=) c.2115C>T (p.Ala705=) c.2369C>T c.1611C>T (p.Ala537=) c.1992C>T (p.Ala664=) c.1606+264C>T (n.1606+264C>T) c.1734C>T (p.Ala578=) n.2125C>T n.2232C>T n.2092C>T | |
19 | g.11120498A= | CA2322775647 | LDLR | c.2374A= (p.Arg792=) c.*185A= (n.*185A=) c.1996A= (p.Arg666=) c.2116A= (p.Arg706=) c.2370A= c.1612A= (p.Arg538=) c.1993A= (p.Arg665=) c.1606+265A= (n.1606+265A=) c.1735A= (p.Arg579=) n.2126A= n.2233A= n.2093A= | |
19 | g.11120498A>C | CA505486633 | LDLR | c.2374A>C (p.Arg792=) c.*185A>C (n.*185A>C) c.1996A>C (p.Arg666=) c.2116A>C (p.Arg706=) c.2370A>C c.1612A>C (p.Arg538=) c.1993A>C (p.Arg665=) c.1606+265A>C (n.1606+265A>C) c.1735A>C (p.Arg579=) n.2126A>C n.2233A>C n.2093A>C | |
19 | g.11120498A>G | CA023639 | LDLR | c.2374A>G (p.Arg792Gly) c.*185A>G (n.*185A>G) c.1996A>G (p.Arg666Gly) c.2116A>G (p.Arg706Gly) c.2370A>G c.1612A>G (p.Arg538Gly) c.1993A>G (p.Arg665Gly) c.1606+265A>G (n.1606+265A>G) c.1735A>G (p.Arg579Gly) n.2126A>G n.2233A>G n.2093A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120498A>T | CA404093949 | LDLR | c.2374A>T (p.Arg792Trp) c.*185A>T (n.*185A>T) c.1996A>T (p.Arg666Trp) c.2116A>T (p.Arg706Trp) c.2370A>T c.1612A>T (p.Arg538Trp) c.1993A>T (p.Arg665Trp) c.1606+265A>T (n.1606+265A>T) c.1735A>T (p.Arg579Trp) n.2126A>T n.2233A>T n.2093A>T | |
19 | g.11120498_11120499insC | CA645509291 | LDLR | c.2374_2375insC (p.Arg792ThrfsTer11) c.*185_*186insC (n.*185_*186insC) c.1996_1997insC (p.Arg666ThrfsTer11) c.2116_2117insC (p.Arg706ThrfsTer11) c.2370_2371insC c.1612_1613insC (p.Arg538ThrfsTer11) c.1993_1994insC (p.Arg665ThrfsTer11) c.1606+265_1606+266insC (n.1606+265_1606+266insC) c.1735_1736insC (p.Arg579ThrfsTer11) n.2126_2127insC n.2233_2234insC n.2093_2094insC | ClinVar dbSNP |
19 | g.11120499G>A | CA404093950 | LDLR | c.2375G>A (p.Arg792Lys) c.*186G>A (n.*186G>A) c.1997G>A (p.Arg666Lys) c.2117G>A (p.Arg706Lys) c.2371G>A c.1613G>A (p.Arg538Lys) c.1994G>A (p.Arg665Lys) c.1606+266G>A (n.1606+266G>A) c.1736G>A (p.Arg579Lys) n.2127G>A n.2234G>A n.2094G>A | |
19 | g.11120499G>C | CA404093952 | LDLR | c.2375G>C (p.Arg792Thr) c.*186G>C (n.*186G>C) c.1997G>C (p.Arg666Thr) c.2117G>C (p.Arg706Thr) c.2371G>C c.1613G>C (p.Arg538Thr) c.1994G>C (p.Arg665Thr) c.1606+266G>C (n.1606+266G>C) c.1736G>C (p.Arg579Thr) n.2127G>C n.2234G>C n.2094G>C | |
19 | g.11120499G>T | CA404093951 | LDLR | c.2375G>T (p.Arg792Met) c.*186G>T (n.*186G>T) c.1997G>T (p.Arg666Met) c.2117G>T (p.Arg706Met) c.2371G>T c.1613G>T (p.Arg538Met) c.1994G>T (p.Arg665Met) c.1606+266G>T (n.1606+266G>T) c.1736G>T (p.Arg579Met) n.2127G>T n.2234G>T n.2094G>T | |
19 | g.11120500G>A | CA505486635 | LDLR | c.2376G>A (p.Arg792=) c.*187G>A (n.*187G>A) c.1998G>A (p.Arg666=) c.2118G>A (p.Arg706=) c.2372G>A c.1614G>A (p.Arg538=) c.1995G>A (p.Arg665=) c.1606+267G>A (n.1606+267G>A) c.1737G>A (p.Arg579=) n.2128G>A n.2235G>A n.2095G>A | |
19 | g.11120500G>C | CA404093953 | LDLR | c.2376G>C (p.Arg792Ser) c.*187G>C (n.*187G>C) c.1998G>C (p.Arg666Ser) c.2118G>C (p.Arg706Ser) c.2372G>C c.1614G>C (p.Arg538Ser) c.1995G>C (p.Arg665Ser) c.1606+267G>C (n.1606+267G>C) c.1737G>C (p.Arg579Ser) n.2128G>C n.2235G>C n.2095G>C | |
19 | g.11120500G>T | CA404093954 | LDLR | c.2376G>T (p.Arg792Ser) c.*187G>T (n.*187G>T) c.1998G>T (p.Arg666Ser) c.2118G>T (p.Arg706Ser) c.2372G>T c.1614G>T (p.Arg538Ser) c.1995G>T (p.Arg665Ser) c.1606+267G>T (n.1606+267G>T) c.1737G>T (p.Arg579Ser) n.2128G>T n.2235G>T n.2095G>T | gnomAD v4 |
19 | g.11120503_11120510dup | CA2580096712 | LDLR | c.2379_2386dup (p.Ser796ThrfsTer2) c.*190_*197dup (n.*190_*197dup) c.2001_2008dup (p.Ser670ThrfsTer2) c.2121_2128dup (p.Ser710ThrfsTer2) c.2375_2382dup c.1617_1624dup (p.Ser542ThrfsTer2) c.1998_2005dup (p.Ser669ThrfsTer2) c.1606+270_1606+277dup (n.1606+270_1606+277dup) c.1740_1747dup (p.Ser583ThrfsTer2) n.2131_2138dup n.2238_2245dup n.2098_2105dup | ClinVar |
19 | g.11120501G>A | CA10585778 | LDLR | c.2377G>A (p.Asp793Asn) c.*188G>A (n.*188G>A) c.1999G>A (p.Asp667Asn) c.2119G>A (p.Asp707Asn) c.2373G>A c.1615G>A (p.Asp539Asn) c.1996G>A (p.Asp666Asn) c.1606+268G>A (n.1606+268G>A) c.1738G>A (p.Asp580Asn) n.2129G>A n.2236G>A n.2096G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120501G>C | CA404093955 | LDLR | c.2377G>C (p.Asp793His) c.*188G>C (n.*188G>C) c.1999G>C (p.Asp667His) c.2119G>C (p.Asp707His) c.2373G>C c.1615G>C (p.Asp539His) c.1996G>C (p.Asp666His) c.1606+268G>C (n.1606+268G>C) c.1738G>C (p.Asp580His) n.2129G>C n.2236G>C n.2096G>C | gnomAD v4 |
19 | g.11120501G= | CA2322775648 | LDLR | c.2377G= (p.Asp793=) c.*188G= (n.*188G=) c.1999G= (p.Asp667=) c.2119G= (p.Asp707=) c.2373G= c.1615G= (p.Asp539=) c.1996G= (p.Asp666=) c.1606+268G= (n.1606+268G=) c.1738G= (p.Asp580=) n.2129G= n.2236G= n.2096G= | |
19 | g.11120501G>T | CA10585779 | LDLR | c.2377G>T (p.Asp793Tyr) c.*188G>T (n.*188G>T) c.1999G>T (p.Asp667Tyr) c.2119G>T (p.Asp707Tyr) c.2373G>T c.1615G>T (p.Asp539Tyr) c.1996G>T (p.Asp666Tyr) c.1606+268G>T (n.1606+268G>T) c.1738G>T (p.Asp580Tyr) n.2129G>T n.2236G>T n.2096G>T | ClinVar dbSNP |
19 | g.11120502A= | CA2322775649 | LDLR | c.2378A= (p.Asp793=) c.*189A= (n.*189A=) c.2000A= (p.Asp667=) c.2120A= (p.Asp707=) c.2374A= c.1616A= (p.Asp539=) c.1997A= (p.Asp666=) c.1606+269A= (n.1606+269A=) c.1739A= (p.Asp580=) n.2130A= n.2237A= n.2097A= | |
19 | g.11120502A>C | CA404093956 | LDLR | c.2378A>C (p.Asp793Ala) c.*189A>C (n.*189A>C) c.2000A>C (p.Asp667Ala) c.2120A>C (p.Asp707Ala) c.2374A>C c.1616A>C (p.Asp539Ala) c.1997A>C (p.Asp666Ala) c.1606+269A>C (n.1606+269A>C) c.1739A>C (p.Asp580Ala) n.2130A>C n.2237A>C n.2097A>C | |
19 | g.11120502A>G | CA404093957 | LDLR | c.2378A>G (p.Asp793Gly) c.*189A>G (n.*189A>G) c.2000A>G (p.Asp667Gly) c.2120A>G (p.Asp707Gly) c.2374A>G c.1616A>G (p.Asp539Gly) c.1997A>G (p.Asp666Gly) c.1606+269A>G (n.1606+269A>G) c.1739A>G (p.Asp580Gly) n.2130A>G n.2237A>G n.2097A>G | |
19 | g.11120502A>T | CA10585780 | LDLR | c.2378A>T (p.Asp793Val) c.*189A>T (n.*189A>T) c.2000A>T (p.Asp667Val) c.2120A>T (p.Asp707Val) c.2374A>T c.1616A>T (p.Asp539Val) c.1997A>T (p.Asp666Val) c.1606+269A>T (n.1606+269A>T) c.1739A>T (p.Asp580Val) n.2130A>T n.2237A>T n.2097A>T | ClinVar dbSNP |
19 | g.11120503del | CA2695238667 | LDLR | c.2379del (p.Asp793GlufsTer2) c.*190del (n.*190del) c.2001del (p.Asp667GlufsTer2) c.2121del (p.Asp707GlufsTer2) c.2375del c.1617del (p.Asp539GlufsTer2) c.1998del (p.Asp666GlufsTer2) c.1606+270del (n.1606+270del) c.1740del (p.Asp580GlufsTer2) n.2131del n.2238del n.2098del | |
19 | g.11120503C>A | CA404093958 | LDLR | c.2379C>A (p.Asp793Glu) c.*190C>A (n.*190C>A) c.2001C>A (p.Asp667Glu) c.2121C>A (p.Asp707Glu) c.2375C>A c.1617C>A (p.Asp539Glu) c.1998C>A (p.Asp666Glu) c.1606+270C>A (n.1606+270C>A) c.1740C>A (p.Asp580Glu) n.2131C>A n.2238C>A n.2098C>A | |
19 | g.11120503C>G | CA404093959 | LDLR | c.2379C>G (p.Asp793Glu) c.*190C>G (n.*190C>G) c.2001C>G (p.Asp667Glu) c.2121C>G (p.Asp707Glu) c.2375C>G c.1617C>G (p.Asp539Glu) c.1998C>G (p.Asp666Glu) c.1606+270C>G (n.1606+270C>G) c.1740C>G (p.Asp580Glu) n.2131C>G n.2238C>G n.2098C>G | gnomAD v4 |
19 | g.11120503C>T | CA505486642 | LDLR | c.2379C>T (p.Asp793=) c.*190C>T (n.*190C>T) c.2001C>T (p.Asp667=) c.2121C>T (p.Asp707=) c.2375C>T c.1617C>T (p.Asp539=) c.1998C>T (p.Asp666=) c.1606+270C>T (n.1606+270C>T) c.1740C>T (p.Asp580=) n.2131C>T n.2238C>T n.2098C>T | gnomAD v4 |
19 | g.11120504A>C | CA404093960 | LDLR | c.2380A>C (p.Met794Leu) c.*191A>C (n.*191A>C) c.2002A>C (p.Met668Leu) c.2122A>C (p.Met708Leu) c.2376A>C c.1618A>C (p.Met540Leu) c.1999A>C (p.Met667Leu) c.1606+271A>C (n.1606+271A>C) c.1741A>C (p.Met581Leu) n.2132A>C n.2239A>C n.2099A>C | |
19 | g.11120504A>G | CA404093961 | LDLR | c.2380A>G (p.Met794Val) c.*191A>G (n.*191A>G) c.2002A>G (p.Met668Val) c.2122A>G (p.Met708Val) c.2376A>G c.1618A>G (p.Met540Val) c.1999A>G (p.Met667Val) c.1606+271A>G (n.1606+271A>G) c.1741A>G (p.Met581Val) n.2132A>G n.2239A>G n.2099A>G | gnomAD v4 |
19 | g.11120504A>T | CA404093962 | LDLR | c.2380A>T (p.Met794Leu) c.*191A>T (n.*191A>T) c.2002A>T (p.Met668Leu) c.2122A>T (p.Met708Leu) c.2376A>T c.1618A>T (p.Met540Leu) c.1999A>T (p.Met667Leu) c.1606+271A>T (n.1606+271A>T) c.1741A>T (p.Met581Leu) n.2132A>T n.2239A>T n.2099A>T | |
19 | g.11120505T>A | CA404093963 | LDLR | c.2381T>A (p.Met794Lys) c.*192T>A (n.*192T>A) c.2003T>A (p.Met668Lys) c.2123T>A (p.Met708Lys) c.2377T>A c.1619T>A (p.Met540Lys) c.2000T>A (p.Met667Lys) c.1606+272T>A (n.1606+272T>A) c.1742T>A (p.Met581Lys) n.2133T>A n.2240T>A n.2100T>A | |
19 | g.11120505T>C | CA038668 | LDLR | c.2381T>C (p.Met794Thr) c.*192T>C (n.*192T>C) c.2003T>C (p.Met668Thr) c.2123T>C (p.Met708Thr) c.2377T>C c.1619T>C (p.Met540Thr) c.2000T>C (p.Met667Thr) c.1606+272T>C (n.1606+272T>C) c.1742T>C (p.Met581Thr) n.2133T>C n.2240T>C n.2100T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120505T>G | CA038677 | LDLR | c.2381T>G (p.Met794Arg) c.*192T>G (n.*192T>G) c.2003T>G (p.Met668Arg) c.2123T>G (p.Met708Arg) c.2377T>G c.1619T>G (p.Met540Arg) c.2000T>G (p.Met667Arg) c.1606+272T>G (n.1606+272T>G) c.1742T>G (p.Met581Arg) n.2133T>G n.2240T>G n.2100T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120505T= | CA2322775650 | LDLR | c.2381T= (p.Met794=) c.*192T= (n.*192T=) c.2003T= (p.Met668=) c.2123T= (p.Met708=) c.2377T= c.1619T= (p.Met540=) c.2000T= (p.Met667=) c.1606+272T= (n.1606+272T=) c.1742T= (p.Met581=) n.2133T= n.2240T= n.2100T= | |
19 | g.11120505_11120508delinsTGAG | CA2322775651 | LDLR | c.2381_2384delinsTGAG (p.Met794=) c.*192_*195delinsTGAG (n.*192_*195delinsTGAG) c.2003_2006delinsTGAG (p.Met668=) c.2123_2126delinsTGAG (p.Met708=) c.2377_2380delinsTGAG c.1619_1622delinsTGAG (p.Met540=) c.2000_2003delinsTGAG (p.Met667=) c.1606+272_1606+275delinsTGAG (n.1606+272_1606+275delinsTGAG) c.1742_1745delinsTGAG (p.Met581=) n.2133_2136delinsTGAG n.2240_2243delinsTGAG n.2100_2103delinsTGAG | |
19 | g.11120506G>A | CA038694 | LDLR | c.2382G>A (p.Met794Ile) c.*193G>A (n.*193G>A) c.2004G>A (p.Met668Ile) c.2124G>A (p.Met708Ile) c.2378G>A c.1620G>A (p.Met540Ile) c.2001G>A (p.Met667Ile) c.1606+273G>A (n.1606+273G>A) c.1743G>A (p.Met581Ile) n.2134G>A n.2241G>A n.2101G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120506G>C | CA404093964 | LDLR | c.2382G>C (p.Met794Ile) c.*193G>C (n.*193G>C) c.2004G>C (p.Met668Ile) c.2124G>C (p.Met708Ile) c.2378G>C c.1620G>C (p.Met540Ile) c.2001G>C (p.Met667Ile) c.1606+273G>C (n.1606+273G>C) c.1743G>C (p.Met581Ile) n.2134G>C n.2241G>C n.2101G>C | |
19 | g.11120506G= | CA2322775652 | LDLR | c.2382G= (p.Met794=) c.*193G= (n.*193G=) c.2004G= (p.Met668=) c.2124G= (p.Met708=) c.2378G= c.1620G= (p.Met540=) c.2001G= (p.Met667=) c.1606+273G= (n.1606+273G=) c.1743G= (p.Met581=) n.2134G= n.2241G= n.2101G= | |
19 | g.11120506G>T | CA404093965 | LDLR | c.2382G>T (p.Met794Ile) c.*193G>T (n.*193G>T) c.2004G>T (p.Met668Ile) c.2124G>T (p.Met708Ile) c.2378G>T c.1620G>T (p.Met540Ile) c.2001G>T (p.Met667Ile) c.1606+273G>T (n.1606+273G>T) c.1743G>T (p.Met581Ile) n.2134G>T n.2241G>T n.2101G>T | |
19 | g.11120509_11120511del | CA1139666245 | LDLR | c.2385_2387del (p.Arg795del) c.*196_*198del (n.*196_*198del) c.2007_2009del (p.Arg669del) c.2127_2129del (p.Arg709del) c.2381_2383del c.1623_1625del (p.Arg541del) c.2004_2006del (p.Arg668del) c.1606+276_1606+278del (n.1606+276_1606+278del) c.1746_1748del (p.Arg582del) n.2137_2139del n.2244_2246del n.2104_2106del | ClinVar dbSNP gnomAD v4 |
19 | g.11120507A= | CA2322775653 | LDLR | c.2383A= (p.Arg795=) c.*194A= (n.*194A=) c.2005A= (p.Arg669=) c.2125A= (p.Arg709=) c.2379A= c.1621A= (p.Arg541=) c.2002A= (p.Arg668=) c.1606+274A= (n.1606+274A=) c.1744A= (p.Arg582=) n.2135A= n.2242A= n.2102A= | |
19 | g.11120507A>C | CA505486644 | LDLR | c.2383A>C (p.Arg795=) c.*194A>C (n.*194A>C) c.2005A>C (p.Arg669=) c.2125A>C (p.Arg709=) c.2379A>C c.1621A>C (p.Arg541=) c.2002A>C (p.Arg668=) c.1606+274A>C (n.1606+274A>C) c.1744A>C (p.Arg582=) n.2135A>C n.2242A>C n.2102A>C | |
19 | g.11120507A>G | CA16602347 | LDLR | c.2383A>G (p.Arg795Gly) c.*194A>G (n.*194A>G) c.2005A>G (p.Arg669Gly) c.2125A>G (p.Arg709Gly) c.2379A>G c.1621A>G (p.Arg541Gly) c.2002A>G (p.Arg668Gly) c.1606+274A>G (n.1606+274A>G) c.1744A>G (p.Arg582Gly) n.2135A>G n.2242A>G n.2102A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11120507A>T | CA404093966 | LDLR | c.2383A>T (p.Arg795Trp) c.*194A>T (n.*194A>T) c.2005A>T (p.Arg669Trp) c.2125A>T (p.Arg709Trp) c.2379A>T c.1621A>T (p.Arg541Trp) c.2002A>T (p.Arg668Trp) c.1606+274A>T (n.1606+274A>T) c.1744A>T (p.Arg582Trp) n.2135A>T n.2242A>T n.2102A>T | |
19 | g.11120508G>A | CA023641 | LDLR | c.2384G>A (p.Arg795Lys) c.*195G>A (n.*195G>A) c.2006G>A (p.Arg669Lys) c.2126G>A (p.Arg709Lys) c.2380G>A c.1622G>A (p.Arg541Lys) c.2003G>A (p.Arg668Lys) c.1606+275G>A (n.1606+275G>A) c.1745G>A (p.Arg582Lys) n.2136G>A n.2243G>A n.2103G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120508G>C | CA404093967 | LDLR | c.2384G>C (p.Arg795Thr) c.*195G>C (n.*195G>C) c.2006G>C (p.Arg669Thr) c.2126G>C (p.Arg709Thr) c.2380G>C c.1622G>C (p.Arg541Thr) c.2003G>C (p.Arg668Thr) c.1606+275G>C (n.1606+275G>C) c.1745G>C (p.Arg582Thr) n.2136G>C n.2243G>C n.2103G>C | COSMIC |
19 | g.11120508G= | CA2322775654 | LDLR | c.2384G= (p.Arg795=) c.*195G= (n.*195G=) c.2006G= (p.Arg669=) c.2126G= (p.Arg709=) c.2380G= c.1622G= (p.Arg541=) c.2003G= (p.Arg668=) c.1606+275G= (n.1606+275G=) c.1745G= (p.Arg582=) n.2136G= n.2243G= n.2103G= | |
19 | g.11120508G>T | CA404093968 | LDLR | c.2384G>T (p.Arg795Met) c.*195G>T (n.*195G>T) c.2006G>T (p.Arg669Met) c.2126G>T (p.Arg709Met) c.2380G>T c.1622G>T (p.Arg541Met) c.2003G>T (p.Arg668Met) c.1606+275G>T (n.1606+275G>T) c.1745G>T (p.Arg582Met) n.2136G>T n.2243G>T n.2103G>T | |
19 | g.11120509G>A | CA038722 | LDLR | c.2385G>A (p.Arg795=) c.*196G>A (n.*196G>A) c.2007G>A (p.Arg669=) c.2127G>A (p.Arg709=) c.2381G>A c.1623G>A (p.Arg541=) c.2004G>A (p.Arg668=) c.1606+276G>A (n.1606+276G>A) c.1746G>A (p.Arg582=) n.2137G>A n.2244G>A n.2104G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120509G>C | CA404093969 | LDLR | c.2385G>C (p.Arg795Ser) c.*196G>C (n.*196G>C) c.2007G>C (p.Arg669Ser) c.2127G>C (p.Arg709Ser) c.2381G>C c.1623G>C (p.Arg541Ser) c.2004G>C (p.Arg668Ser) c.1606+276G>C (n.1606+276G>C) c.1746G>C (p.Arg582Ser) n.2137G>C n.2244G>C n.2104G>C | |
19 | g.11120509G= | CA2322775655 | LDLR | c.2385G= (p.Arg795=) c.*196G= (n.*196G=) c.2007G= (p.Arg669=) c.2127G= (p.Arg709=) c.2381G= c.1623G= (p.Arg541=) c.2004G= (p.Arg668=) c.1606+276G= (n.1606+276G=) c.1746G= (p.Arg582=) n.2137G= n.2244G= n.2104G= | |
19 | g.11120509G>T | CA404093970 | LDLR | c.2385G>T (p.Arg795Ser) c.*196G>T (n.*196G>T) c.2007G>T (p.Arg669Ser) c.2127G>T (p.Arg709Ser) c.2381G>T c.1623G>T (p.Arg541Ser) c.2004G>T (p.Arg668Ser) c.1606+276G>T (n.1606+276G>T) c.1746G>T (p.Arg582Ser) n.2137G>T n.2244G>T n.2104G>T | |
19 | g.11120509_11120510delinsCT | CA2573156035 | LDLR | c.2385_2386delinsCT (p.Arg795_Ser796delinsSerCys) c.*196_*197delinsCT (n.*196_*197delinsCT) c.2007_2008delinsCT (p.Arg669_Ser670delinsSerCys) c.2127_2128delinsCT (p.Arg709_Ser710delinsSerCys) c.2381_2382delinsCT c.1623_1624delinsCT (p.Arg541_Ser542delinsSerCys) c.2004_2005delinsCT (p.Arg668_Ser669delinsSerCys) c.1606+276_1606+277delinsCT (n.1606+276_1606+277delinsCT) c.1746_1747delinsCT (p.Arg582_Ser583delinsSerCys) n.2137_2138delinsCT n.2244_2245delinsCT n.2104_2105delinsCT | ClinVar dbSNP |
19 | g.11120510A= | CA2322775656 | LDLR | c.2386A= (p.Ser796=) c.*197A= (n.*197A=) c.2008A= (p.Ser670=) c.2128A= (p.Ser710=) c.2382A= c.1624A= (p.Ser542=) c.2005A= (p.Ser669=) c.1606+277A= (n.1606+277A=) c.1747A= (p.Ser583=) n.2138A= n.2245A= n.2105A= | |
19 | g.11120510A>C | CA404093973 | LDLR | c.2386A>C (p.Ser796Arg) c.*197A>C (n.*197A>C) c.2008A>C (p.Ser670Arg) c.2128A>C (p.Ser710Arg) c.2382A>C c.1624A>C (p.Ser542Arg) c.2005A>C (p.Ser669Arg) c.1606+277A>C (n.1606+277A>C) c.1747A>C (p.Ser583Arg) n.2138A>C n.2245A>C n.2105A>C | |
19 | g.11120510A>G | CA404093972 | LDLR | c.2386A>G (p.Ser796Gly) c.*197A>G (n.*197A>G) c.2008A>G (p.Ser670Gly) c.2128A>G (p.Ser710Gly) c.2382A>G c.1624A>G (p.Ser542Gly) c.2005A>G (p.Ser669Gly) c.1606+277A>G (n.1606+277A>G) c.1747A>G (p.Ser583Gly) n.2138A>G n.2245A>G n.2105A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120510A>T | CA404093971 | LDLR | c.2386A>T (p.Ser796Cys) c.*197A>T (n.*197A>T) c.2008A>T (p.Ser670Cys) c.2128A>T (p.Ser710Cys) c.2382A>T c.1624A>T (p.Ser542Cys) c.2005A>T (p.Ser669Cys) c.1606+277A>T (n.1606+277A>T) c.1747A>T (p.Ser583Cys) n.2138A>T n.2245A>T n.2105A>T | |
19 | g.11120510_11120513dup | CA2573156036 | LDLR | c.2386_2389dup (p.Cys797Ter) c.*197_*200dup (n.*197_*200dup) c.2008_2011dup (p.Cys671Ter) c.2128_2131dup (p.Cys711Ter) c.2382_2385dup c.1624_1627dup (p.Cys543Ter) c.2005_2008dup (p.Cys670Ter) c.1606+277_1606+280dup (n.1606+277_1606+280dup) c.1747_1750dup (p.Cys584Ter) n.2138_2141dup n.2245_2248dup n.2105_2108dup | ClinVar dbSNP |
19 | g.11120511G>A | CA404093974 | LDLR | c.2387G>A (p.Ser796Asn) c.*198G>A (n.*198G>A) c.2009G>A (p.Ser670Asn) c.2129G>A (p.Ser710Asn) c.2383G>A c.1625G>A (p.Ser542Asn) c.2006G>A (p.Ser669Asn) c.1606+278G>A (n.1606+278G>A) c.1748G>A (p.Ser583Asn) n.2139G>A n.2246G>A n.2106G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120511G>C | CA404093976 | LDLR | c.2387G>C (p.Ser796Thr) c.*198G>C (n.*198G>C) c.2009G>C (p.Ser670Thr) c.2129G>C (p.Ser710Thr) c.2383G>C c.1625G>C (p.Ser542Thr) c.2006G>C (p.Ser669Thr) c.1606+278G>C (n.1606+278G>C) c.1748G>C (p.Ser583Thr) n.2139G>C n.2246G>C n.2106G>C | |
19 | g.11120511G>T | CA404093975 | LDLR | c.2387G>T (p.Ser796Ile) c.*198G>T (n.*198G>T) c.2009G>T (p.Ser670Ile) c.2129G>T (p.Ser710Ile) c.2383G>T c.1625G>T (p.Ser542Ile) c.2006G>T (p.Ser669Ile) c.1606+278G>T (n.1606+278G>T) c.1748G>T (p.Ser583Ile) n.2139G>T n.2246G>T n.2106G>T | |
19 | g.11120512C>A | CA404093977 | LDLR | c.2388C>A (p.Ser796Arg) c.*199C>A (n.*199C>A) c.2010C>A (p.Ser670Arg) c.2130C>A (p.Ser710Arg) c.2384C>A c.1626C>A (p.Ser542Arg) c.2007C>A (p.Ser669Arg) c.1606+279C>A (n.1606+279C>A) c.1749C>A (p.Ser583Arg) n.2140C>A n.2247C>A n.2107C>A | gnomAD v4 |
19 | g.11120512C>G | CA404093978 | LDLR | c.2388C>G (p.Ser796Arg) c.*199C>G (n.*199C>G) c.2010C>G (p.Ser670Arg) c.2130C>G (p.Ser710Arg) c.2384C>G c.1626C>G (p.Ser542Arg) c.2007C>G (p.Ser669Arg) c.1606+279C>G (n.1606+279C>G) c.1749C>G (p.Ser583Arg) n.2140C>G n.2247C>G n.2107C>G | |
19 | g.11120512C>T | CA505486651 | LDLR | c.2388C>T (p.Ser796=) c.*199C>T (n.*199C>T) c.2010C>T (p.Ser670=) c.2130C>T (p.Ser710=) c.2384C>T c.1626C>T (p.Ser542=) c.2007C>T (p.Ser669=) c.1606+279C>T (n.1606+279C>T) c.1749C>T (p.Ser583=) n.2140C>T n.2247C>T n.2107C>T | COSMIC |
19 | g.11120513T>A | CA10585781 | LDLR | c.2389T>A (p.Cys797Ser) c.*200T>A (n.*200T>A) c.2011T>A (p.Cys671Ser) c.2131T>A (p.Cys711Ser) c.2385T>A c.1627T>A (p.Cys543Ser) c.2008T>A (p.Cys670Ser) c.1606+280T>A (n.1606+280T>A) c.1750T>A (p.Cys584Ser) n.2141T>A n.2248T>A n.2108T>A | ClinVar dbSNP |
19 | g.11120513T>C | CA404093979 | LDLR | c.2389T>C (p.Cys797Arg) c.*200T>C (n.*200T>C) c.2011T>C (p.Cys671Arg) c.2131T>C (p.Cys711Arg) c.2385T>C c.1627T>C (p.Cys543Arg) c.2008T>C (p.Cys670Arg) c.1606+280T>C (n.1606+280T>C) c.1750T>C (p.Cys584Arg) n.2141T>C n.2248T>C n.2108T>C | ClinVar dbSNP |
19 | g.11120513T>G | CA404093980 | LDLR | c.2389T>G (p.Cys797Gly) c.*200T>G (n.*200T>G) c.2011T>G (p.Cys671Gly) c.2131T>G (p.Cys711Gly) c.2385T>G c.1627T>G (p.Cys543Gly) c.2008T>G (p.Cys670Gly) c.1606+280T>G (n.1606+280T>G) c.1750T>G (p.Cys584Gly) n.2141T>G n.2248T>G n.2108T>G | ClinVar dbSNP |
19 | g.11120513T= | CA2322775657 | LDLR | c.2389T= (p.Cys797=) c.*200T= (n.*200T=) c.2011T= (p.Cys671=) c.2131T= (p.Cys711=) c.2385T= c.1627T= (p.Cys543=) c.2008T= (p.Cys670=) c.1606+280T= (n.1606+280T=) c.1750T= (p.Cys584=) n.2141T= n.2248T= n.2108T= | |
19 | g.11120514G>A | CA10585782 | LDLR | c.2390G>A (p.Cys797Tyr) c.*201G>A (n.*201G>A) c.2012G>A (p.Cys671Tyr) c.2132G>A (p.Cys711Tyr) c.2386G>A c.1628G>A (p.Cys543Tyr) c.2009G>A (p.Cys670Tyr) c.1606+281G>A (n.1606+281G>A) c.1751G>A (p.Cys584Tyr) n.2142G>A n.2249G>A n.2109G>A | ClinVar dbSNP gnomAD v2 |
19 | g.11120514G>C | CA10585783 | LDLR | c.2390G>C (p.Cys797Ser) c.*201G>C (n.*201G>C) c.2012G>C (p.Cys671Ser) c.2132G>C (p.Cys711Ser) c.2386G>C c.1628G>C (p.Cys543Ser) c.2009G>C (p.Cys670Ser) c.1606+281G>C (n.1606+281G>C) c.1751G>C (p.Cys584Ser) n.2142G>C n.2249G>C n.2109G>C | ClinVar dbSNP |
19 | g.11120514G= | CA2322775658 | LDLR | c.2390G= (p.Cys797=) c.*201G= (n.*201G=) c.2012G= (p.Cys671=) c.2132G= (p.Cys711=) c.2386G= c.1628G= (p.Cys543=) c.2009G= (p.Cys670=) c.1606+281G= (n.1606+281G=) c.1751G= (p.Cys584=) n.2142G= n.2249G= n.2109G= | |
19 | g.11120514G>T | CA10585784 | LDLR | c.2390G>T (p.Cys797Phe) c.*201G>T (n.*201G>T) c.2012G>T (p.Cys671Phe) c.2132G>T (p.Cys711Phe) c.2386G>T c.1628G>T (p.Cys543Phe) c.2009G>T (p.Cys670Phe) c.1606+281G>T (n.1606+281G>T) c.1751G>T (p.Cys584Phe) n.2142G>T n.2249G>T n.2109G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11120515C>A | CA10585785 | LDLR | c.2391C>A (p.Cys797Ter) c.*202C>A (n.*202C>A) c.2013C>A (p.Cys671Ter) c.2133C>A (p.Cys711Ter) c.2387C>A c.1629C>A (p.Cys543Ter) c.2010C>A (p.Cys670Ter) c.1606+282C>A (n.1606+282C>A) c.1752C>A (p.Cys584Ter) n.2143C>A n.2250C>A n.2110C>A | ClinVar dbSNP |
19 | g.11120515C= | CA2322775659 | LDLR | c.2391C= (p.Cys797=) c.*202C= (n.*202C=) c.2013C= (p.Cys671=) c.2133C= (p.Cys711=) c.2387C= c.1629C= (p.Cys543=) c.2010C= (p.Cys670=) c.1606+282C= (n.1606+282C=) c.1752C= (p.Cys584=) n.2143C= n.2250C= n.2110C= | |
19 | g.11120515C>G | CA404093981 | LDLR | c.2391C>G (p.Cys797Trp) c.*202C>G (n.*202C>G) c.2013C>G (p.Cys671Trp) c.2133C>G (p.Cys711Trp) c.2387C>G c.1629C>G (p.Cys543Trp) c.2010C>G (p.Cys670Trp) c.1606+282C>G (n.1606+282C>G) c.1752C>G (p.Cys584Trp) n.2143C>G n.2250C>G n.2110C>G | ClinVar dbSNP |
19 | g.11120515C>T | CA505486653 | LDLR | c.2391C>T (p.Cys797=) c.*202C>T (n.*202C>T) c.2013C>T (p.Cys671=) c.2133C>T (p.Cys711=) c.2387C>T c.1629C>T (p.Cys543=) c.2010C>T (p.Cys670=) c.1606+282C>T (n.1606+282C>T) c.1752C>T (p.Cys584=) n.2143C>T n.2250C>T n.2110C>T | gnomAD v4 |
19 | g.11120516dup | CA16602348 | LDLR | c.2392dup (p.Leu798ProfsTer5) c.*203dup (n.*203dup) c.2014dup (p.Leu672ProfsTer5) c.2134dup (p.Leu712ProfsTer5) c.2388dup c.1630dup (p.Leu544ProfsTer5) c.2011dup (p.Leu671ProfsTer5) c.1606+283dup (n.1606+283dup) c.1753dup (p.Leu585ProfsTer5) n.2144dup n.2251dup n.2111dup | ClinVar dbSNP |
19 | g.11120516C>A | CA404093982 | LDLR | c.2392C>A (p.Leu798Ile) c.*203C>A (n.*203C>A) c.2014C>A (p.Leu672Ile) c.2134C>A (p.Leu712Ile) c.2388C>A c.1630C>A (p.Leu544Ile) c.2011C>A (p.Leu671Ile) c.1606+283C>A (n.1606+283C>A) c.1753C>A (p.Leu585Ile) n.2144C>A n.2251C>A n.2111C>A | |
19 | g.11120516C= | CA2322775660 | LDLR | c.2392C= (p.Leu798=) c.*203C= (n.*203C=) c.2014C= (p.Leu672=) c.2134C= (p.Leu712=) c.2388C= c.1630C= (p.Leu544=) c.2011C= (p.Leu671=) c.1606+283C= (n.1606+283C=) c.1753C= (p.Leu585=) n.2144C= n.2251C= n.2111C= | |
19 | g.11120516C>G | CA404093983 | LDLR | c.2392C>G (p.Leu798Val) c.*203C>G (n.*203C>G) c.2014C>G (p.Leu672Val) c.2134C>G (p.Leu712Val) c.2388C>G c.1630C>G (p.Leu544Val) c.2011C>G (p.Leu671Val) c.1606+283C>G (n.1606+283C>G) c.1753C>G (p.Leu585Val) n.2144C>G n.2251C>G n.2111C>G | |
19 | g.11120516C>T | CA404093984 | LDLR | c.2392C>T (p.Leu798Phe) c.*203C>T (n.*203C>T) c.2014C>T (p.Leu672Phe) c.2134C>T (p.Leu712Phe) c.2388C>T c.1630C>T (p.Leu544Phe) c.2011C>T (p.Leu671Phe) c.1606+283C>T (n.1606+283C>T) c.1753C>T (p.Leu585Phe) n.2144C>T n.2251C>T n.2111C>T | dbSNP gnomAD v2 gnomAD v4 |