Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11113288_11123238del | CA10585350 | LDLR | c.1455_2463del c.1197_*274del c.1077_2085del c.1197_2205del c.1451_2459del c.693_1701del c.1074_2082del c.816_1671del c.816_1824del n.1347_2215del n.1314_2539del n.1314_2182del | ClinVar |
19 | g.11120093_11123345del | CA2695202625 | LDLR | c.2105_2569+1del c.1707_*380+1del c.1727_2191+1del c.1847_2311+1del c.2101_2565+1del c.1343_1807+1del c.1724_2188+1del c.1466_1777+1del c.1466_1930+1del n.1857_2321+1del n.1964_2645+1del n.1824_2288+1del | |
19 | g.11120091_11123345del | CA658824575 | LDLR | c.2104-1_2569+1del c.1706-1_*380+1del c.1726-1_2191+1del c.1846-1_2311+1del c.2100-1_2565+1del c.1342-1_1807+1del c.1723-1_2188+1del c.1465-1_1777+1del c.1465-1_1930+1del n.1856-1_2321+1del n.1963-1_2645+1del n.1823-1_2288+1del | ClinVar |
19 | g.11120137_11124406del | CA250475 | LDLR | c.2149_2569+1062del c.1751_*380+1062del c.1771_2191+1062del c.1891_2311+1062del c.2145_2565+1062del c.1387_1807+1062del c.1768_2188+1062del c.1510_1777+1062del c.1510_1930+1062del n.1901_2321+1062del n.2008_2645+1062del n.1868_2288+1062del | ClinVar |
19 | g.11120137_11124409del | CA916081229 | LDLR | c.2149_2569+1065del c.1751_*380+1065del c.1771_2191+1065del c.1891_2311+1065del c.2145_2565+1065del c.1387_1807+1065del c.1768_2188+1065del c.1510_1777+1065del c.1510_1930+1065del n.1901_2321+1065del n.2008_2645+1065del n.1868_2288+1065del | ClinVar |
19 | g.11120137_11124409delinsCTCAGCACTTTGGG | CA2573050615 | LDLR | c.2149_2569+1065delinsCTCAGCACTTTGGG c.1751_*380+1065delinsCTCAGCACTTTGGG c.1771_2191+1065delinsCTCAGCACTTTGGG c.1891_2311+1065delinsCTCAGCACTTTGGG c.2145_2565+1065delinsCTCAGCACTTTGGG c.1387_1807+1065delinsCTCAGCACTTTGGG c.1768_2188+1065delinsCTCAGCACTTTGGG c.1510_1777+1065delinsCTCAGCACTTTGGG c.1510_1930+1065delinsCTCAGCACTTTGGG n.1901_2321+1065delinsCTCAGCACTTTGGG n.2008_2645+1065delinsCTCAGCACTTTGGG n.1868_2288+1065delinsCTCAGCACTTTGGG | |
19 | g.11122220_11129195del | CA2573320454 | LDLR | c.2399-954_2648-318del c.*210-954_*459-318del c.2021-954_2270-318del c.2141-954_2390-318del c.2395-954_2644-318del c.1637-954_1886-318del c.2018-954_2267-318del c.1607-954_1856-318del c.2141-954_2390-256del c.2141-954_2312-318del c.1760-954_2009-318del n.2151-954_2400-318del n.2475-954_2724-318del n.2118-954_2367-318del | |
19 | g.11123171_11123342delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA | CA2322777160 | LDLR | c.2399-3_2567delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.*210-3_*378delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2021-3_2189delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2141-3_2309delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2395-3_2563delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1637-3_1805delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2018-3_2186delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1607-3_1775delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1760-3_1928delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2151-3_2319delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2475-3_2643delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2118-3_2286delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA | |
19 | g.11123174_11123344del | CA645509293 | LDLR | c.2399_2569del c.*210_*380del c.2021_2191del c.2141_2311del c.2395_2565del c.1637_1807del c.2018_2188del c.1607_1777del c.1760_1930del n.2151_2321del n.2475_2645del n.2118_2288del | ClinVar dbSNP |
19 | g.11123220_11123230del | CA10585802 | LDLR | c.2445_2455del (p.Lys816HisfsTer?) c.*256_*266del (n.*256_*266del) c.2067_2077del (p.Lys690HisfsTer?) c.2187_2197del (p.Lys730HisfsTer?) c.2441_2451del c.1683_1693del (p.Lys562HisfsTer?) c.2064_2074del (p.Lys689HisfsTer?) c.1653_1663del (p.Lys552HisfsTer?) c.1806_1816del (p.Lys603HisfsTer?) n.2197_2207del n.2521_2531del n.2164_2174del | ClinVar dbSNP gnomAD v4 |
19 | g.11123224_11123236dup | CA10585803 | LDLR | c.2449_2461dup (p.Ala821GlyfsTer?) c.*260_*272dup (n.*260_*272dup) c.2071_2083dup (p.Ala695GlyfsTer?) c.2191_2203dup (p.Ala735GlyfsTer?) c.2445_2457dup c.1687_1699dup (p.Ala567GlyfsTer?) c.2068_2080dup (p.Ala694GlyfsTer?) c.1657_1669dup (p.Ala557GlyfsTer?) c.1810_1822dup (p.Ala608GlyfsTer?) n.2201_2213dup n.2525_2537dup n.2168_2180dup | ClinVar dbSNP |
19 | g.11123227_11123231dup | CA2573156039 | LDLR | c.2452_2456dup (p.Thr820AlafsTer5) c.*263_*267dup (n.*263_*267dup) c.2074_2078dup (p.Thr694AlafsTer5) c.2194_2198dup (p.Thr734AlafsTer5) c.2448_2452dup c.1690_1694dup (p.Thr566AlafsTer5) c.2071_2075dup (p.Thr693AlafsTer5) c.1660_1664dup (p.Thr556AlafsTer5) c.1813_1817dup (p.Thr607AlafsTer5) n.2204_2208dup n.2528_2532dup n.2171_2175dup | ClinVar dbSNP |
19 | g.11123225_11123237dup | CA2695228317 | LDLR | c.2450_2462dup (p.Val822GlnfsTer?) c.*261_*273dup (n.*261_*273dup) c.2072_2084dup (p.Val696GlnfsTer?) c.2192_2204dup (p.Val736GlnfsTer?) c.2446_2458dup c.1688_1700dup (p.Val568GlnfsTer?) c.2069_2081dup (p.Val695GlnfsTer?) c.1658_1670dup (p.Val558GlnfsTer?) c.1811_1823dup (p.Val609GlnfsTer?) n.2202_2214dup n.2526_2538dup n.2169_2181dup | |
19 | g.11123229C>A | CA404094969 | LDLR | c.2454C>A (p.Ser818Arg) c.*265C>A (n.*265C>A) c.2076C>A (p.Ser692Arg) c.2196C>A (p.Ser732Arg) c.2450C>A c.1692C>A (p.Ser564Arg) c.2073C>A (p.Ser691Arg) c.1662C>A (p.Ser554Arg) c.1815C>A (p.Ser605Arg) n.2206C>A n.2530C>A n.2173C>A | |
19 | g.11123229C= | CA2322777198 | LDLR | c.2454C= (p.Ser818=) c.*265C= (n.*265C=) c.2076C= (p.Ser692=) c.2196C= (p.Ser732=) c.2450C= c.1692C= (p.Ser564=) c.2073C= (p.Ser691=) c.1662C= (p.Ser554=) c.1815C= (p.Ser605=) n.2206C= n.2530C= n.2173C= | |
19 | g.11123229C>G | CA404094971 | LDLR | c.2454C>G (p.Ser818Arg) c.*265C>G (n.*265C>G) c.2076C>G (p.Ser692Arg) c.2196C>G (p.Ser732Arg) c.2450C>G c.1692C>G (p.Ser564Arg) c.2073C>G (p.Ser691Arg) c.1662C>G (p.Ser554Arg) c.1815C>G (p.Ser605Arg) n.2206C>G n.2530C>G n.2173C>G | gnomAD v4 |
19 | g.11123229C>T | CA505486911 | LDLR | c.2454C>T (p.Ser818=) c.*265C>T (n.*265C>T) c.2076C>T (p.Ser692=) c.2196C>T (p.Ser732=) c.2450C>T c.1692C>T (p.Ser564=) c.2073C>T (p.Ser691=) c.1662C>T (p.Ser554=) c.1815C>T (p.Ser605=) n.2206C>T n.2530C>T n.2173C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123230T>A | CA404094974 | LDLR | c.2455T>A (p.Ser819Thr) c.*266T>A (n.*266T>A) c.2077T>A (p.Ser693Thr) c.2197T>A (p.Ser733Thr) c.2451T>A c.1693T>A (p.Ser565Thr) c.2074T>A (p.Ser692Thr) c.1663T>A (p.Ser555Thr) c.1816T>A (p.Ser606Thr) n.2207T>A n.2531T>A n.2174T>A | |
19 | g.11123230T>C | CA039090 | LDLR | c.2455T>C (p.Ser819Pro) c.*266T>C (n.*266T>C) c.2077T>C (p.Ser693Pro) c.2197T>C (p.Ser733Pro) c.2451T>C c.1693T>C (p.Ser565Pro) c.2074T>C (p.Ser692Pro) c.1663T>C (p.Ser555Pro) c.1816T>C (p.Ser606Pro) n.2207T>C n.2531T>C n.2174T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123230T>G | CA404094980 | LDLR | c.2455T>G (p.Ser819Ala) c.*266T>G (n.*266T>G) c.2077T>G (p.Ser693Ala) c.2197T>G (p.Ser733Ala) c.2451T>G c.1693T>G (p.Ser565Ala) c.2074T>G (p.Ser692Ala) c.1663T>G (p.Ser555Ala) c.1816T>G (p.Ser606Ala) n.2207T>G n.2531T>G n.2174T>G | |
19 | g.11123230T= | CA2322777199 | LDLR | c.2455T= (p.Ser819=) c.*266T= (n.*266T=) c.2077T= (p.Ser693=) c.2197T= (p.Ser733=) c.2451T= c.1693T= (p.Ser565=) c.2074T= (p.Ser692=) c.1663T= (p.Ser555=) c.1816T= (p.Ser606=) n.2207T= n.2531T= n.2174T= | |
19 | g.11123231C>A | CA404094984 | LDLR | c.2456C>A (p.Ser819Tyr) c.*267C>A (n.*267C>A) c.2078C>A (p.Ser693Tyr) c.2198C>A (p.Ser733Tyr) c.2452C>A c.1694C>A (p.Ser565Tyr) c.2075C>A (p.Ser692Tyr) c.1664C>A (p.Ser555Tyr) c.1817C>A (p.Ser606Tyr) n.2208C>A n.2532C>A n.2175C>A | |
19 | g.11123231C= | CA2322777200 | LDLR | c.2456C= (p.Ser819=) c.*267C= (n.*267C=) c.2078C= (p.Ser693=) c.2198C= (p.Ser733=) c.2452C= c.1694C= (p.Ser565=) c.2075C= (p.Ser692=) c.1664C= (p.Ser555=) c.1817C= (p.Ser606=) n.2208C= n.2532C= n.2175C= | |
19 | g.11123231C>G | CA404094985 | LDLR | c.2456C>G (p.Ser819Cys) c.*267C>G (n.*267C>G) c.2078C>G (p.Ser693Cys) c.2198C>G (p.Ser733Cys) c.2452C>G c.1694C>G (p.Ser565Cys) c.2075C>G (p.Ser692Cys) c.1664C>G (p.Ser555Cys) c.1817C>G (p.Ser606Cys) n.2208C>G n.2532C>G n.2175C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123231C>T | CA10585805 | LDLR | c.2456C>T (p.Ser819Phe) c.*267C>T (n.*267C>T) c.2078C>T (p.Ser693Phe) c.2198C>T (p.Ser733Phe) c.2452C>T c.1694C>T (p.Ser565Phe) c.2075C>T (p.Ser692Phe) c.1664C>T (p.Ser555Phe) c.1817C>T (p.Ser606Phe) n.2208C>T n.2532C>T n.2175C>T | ClinVar dbSNP |
19 | g.11123231_11123233delinsCCA | CA2322777201 | LDLR | c.2456_2458delinsCCA (p.Ser819=) c.*267_*269delinsCCA (n.*267_*269delinsCCA) c.2078_2080delinsCCA (p.Ser693=) c.2198_2200delinsCCA (p.Ser733=) c.2452_2454delinsCCA c.1694_1696delinsCCA (p.Ser565=) c.2075_2077delinsCCA (p.Ser692=) c.1664_1666delinsCCA (p.Ser555=) c.1817_1819delinsCCA (p.Ser606=) n.2208_2210delinsCCA n.2532_2534delinsCCA n.2175_2177delinsCCA | |
19 | g.11123232C>A | CA505486913 | LDLR | c.2457C>A (p.Ser819=) c.*268C>A (n.*268C>A) c.2079C>A (p.Ser693=) c.2199C>A (p.Ser733=) c.2453C>A c.1695C>A (p.Ser565=) c.2076C>A (p.Ser692=) c.1665C>A (p.Ser555=) c.1818C>A (p.Ser606=) n.2209C>A n.2533C>A n.2176C>A | |
19 | g.11123232C>G | CA505486914 | LDLR | c.2457C>G (p.Ser819=) c.*268C>G (n.*268C>G) c.2079C>G (p.Ser693=) c.2199C>G (p.Ser733=) c.2453C>G c.1695C>G (p.Ser565=) c.2076C>G (p.Ser692=) c.1665C>G (p.Ser555=) c.1818C>G (p.Ser606=) n.2209C>G n.2533C>G n.2176C>G | |
19 | g.11123232C>T | CA505486915 | LDLR | c.2457C>T (p.Ser819=) c.*268C>T (n.*268C>T) c.2079C>T (p.Ser693=) c.2199C>T (p.Ser733=) c.2453C>T c.1695C>T (p.Ser565=) c.2076C>T (p.Ser692=) c.1665C>T (p.Ser555=) c.1818C>T (p.Ser606=) n.2209C>T n.2533C>T n.2176C>T | |
19 | g.11123234_11123235del | CA10585806 | LDLR | c.2459_2460del (p.Thr820SerfsTer?) c.*270_*271del (n.*270_*271del) c.2081_2082del (p.Thr694SerfsTer?) c.2201_2202del (p.Thr734SerfsTer?) c.2455_2456del c.1697_1698del (p.Thr566SerfsTer?) c.2078_2079del (p.Thr693SerfsTer?) c.1667_1668del (p.Thr556SerfsTer?) c.1820_1821del (p.Thr607SerfsTer?) n.2211_2212del n.2535_2536del n.2178_2179del | ClinVar dbSNP |
19 | g.11123233A= | CA2322777202 | LDLR | c.2458A= (p.Thr820=) c.*269A= (n.*269A=) c.2080A= (p.Thr694=) c.2200A= (p.Thr734=) c.2454A= c.1696A= (p.Thr566=) c.2077A= (p.Thr693=) c.1666A= (p.Thr556=) c.1819A= (p.Thr607=) n.2210A= n.2534A= n.2177A= | |
19 | g.11123233A>C | CA039105 | LDLR | c.2458A>C (p.Thr820Pro) c.*269A>C (n.*269A>C) c.2080A>C (p.Thr694Pro) c.2200A>C (p.Thr734Pro) c.2454A>C c.1696A>C (p.Thr566Pro) c.2077A>C (p.Thr693Pro) c.1666A>C (p.Thr556Pro) c.1819A>C (p.Thr607Pro) n.2210A>C n.2534A>C n.2177A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123233A>G | CA404094992 | LDLR | c.2458A>G (p.Thr820Ala) c.*269A>G (n.*269A>G) c.2080A>G (p.Thr694Ala) c.2200A>G (p.Thr734Ala) c.2454A>G c.1696A>G (p.Thr566Ala) c.2077A>G (p.Thr693Ala) c.1666A>G (p.Thr556Ala) c.1819A>G (p.Thr607Ala) n.2210A>G n.2534A>G n.2177A>G | ClinVar gnomAD v4 |
19 | g.11123233A>T | CA404094996 | LDLR | c.2458A>T (p.Thr820Ser) c.*269A>T (n.*269A>T) c.2080A>T (p.Thr694Ser) c.2200A>T (p.Thr734Ser) c.2454A>T c.1696A>T (p.Thr566Ser) c.2077A>T (p.Thr693Ser) c.1666A>T (p.Thr556Ser) c.1819A>T (p.Thr607Ser) n.2210A>T n.2534A>T n.2177A>T | |
19 | g.11123234C>A | CA404095000 | LDLR | c.2459C>A (p.Thr820Lys) c.*270C>A (n.*270C>A) c.2081C>A (p.Thr694Lys) c.2201C>A (p.Thr734Lys) c.2455C>A c.1697C>A (p.Thr566Lys) c.2078C>A (p.Thr693Lys) c.1667C>A (p.Thr556Lys) c.1820C>A (p.Thr607Lys) n.2211C>A n.2535C>A n.2178C>A | |
19 | g.11123234C= | CA2322777203 | LDLR | c.2459C= (p.Thr820=) c.*270C= (n.*270C=) c.2081C= (p.Thr694=) c.2201C= (p.Thr734=) c.2455C= c.1697C= (p.Thr566=) c.2078C= (p.Thr693=) c.1667C= (p.Thr556=) c.1820C= (p.Thr607=) n.2211C= n.2535C= n.2178C= | |
19 | g.11123234C>G | CA404095002 | LDLR | c.2459C>G (p.Thr820Arg) c.*270C>G (n.*270C>G) c.2081C>G (p.Thr694Arg) c.2201C>G (p.Thr734Arg) c.2455C>G c.1697C>G (p.Thr566Arg) c.2078C>G (p.Thr693Arg) c.1667C>G (p.Thr556Arg) c.1820C>G (p.Thr607Arg) n.2211C>G n.2535C>G n.2178C>G | |
19 | g.11123234C>T | CA039114 | LDLR | c.2459C>T (p.Thr820Ile) c.*270C>T (n.*270C>T) c.2081C>T (p.Thr694Ile) c.2201C>T (p.Thr734Ile) c.2455C>T c.1697C>T (p.Thr566Ile) c.2078C>T (p.Thr693Ile) c.1667C>T (p.Thr556Ile) c.1820C>T (p.Thr607Ile) n.2211C>T n.2535C>T n.2178C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123235A>C | CA505486919 | LDLR | c.2460A>C (p.Thr820=) c.*271A>C (n.*271A>C) c.2082A>C (p.Thr694=) c.2202A>C (p.Thr734=) c.2456A>C c.1698A>C (p.Thr566=) c.2079A>C (p.Thr693=) c.1668A>C (p.Thr556=) c.1821A>C (p.Thr607=) n.2212A>C n.2536A>C n.2179A>C | |
19 | g.11123235A>G | CA505486920 | LDLR | c.2460A>G (p.Thr820=) c.*271A>G (n.*271A>G) c.2082A>G (p.Thr694=) c.2202A>G (p.Thr734=) c.2456A>G c.1698A>G (p.Thr566=) c.2079A>G (p.Thr693=) c.1668A>G (p.Thr556=) c.1821A>G (p.Thr607=) n.2212A>G n.2536A>G n.2179A>G | |
19 | g.11123235A>T | CA505486921 | LDLR | c.2460A>T (p.Thr820=) c.*271A>T (n.*271A>T) c.2082A>T (p.Thr694=) c.2202A>T (p.Thr734=) c.2456A>T c.1698A>T (p.Thr566=) c.2079A>T (p.Thr693=) c.1668A>T (p.Thr556=) c.1821A>T (p.Thr607=) n.2212A>T n.2536A>T n.2179A>T | |
19 | g.11123236G>A | CA404095011 | LDLR | c.2461G>A (p.Ala821Thr) c.*272G>A (n.*272G>A) c.2083G>A (p.Ala695Thr) c.2203G>A (p.Ala735Thr) c.2457G>A c.1699G>A (p.Ala567Thr) c.2080G>A (p.Ala694Thr) c.1669G>A (p.Ala557Thr) c.1822G>A (p.Ala608Thr) n.2213G>A n.2537G>A n.2180G>A | |
19 | g.11123236G>C | CA404095007 | LDLR | c.2461G>C (p.Ala821Pro) c.*272G>C (n.*272G>C) c.2083G>C (p.Ala695Pro) c.2203G>C (p.Ala735Pro) c.2457G>C c.1699G>C (p.Ala567Pro) c.2080G>C (p.Ala694Pro) c.1669G>C (p.Ala557Pro) c.1822G>C (p.Ala608Pro) n.2213G>C n.2537G>C n.2180G>C | |
19 | g.11123236G>T | CA404095010 | LDLR | c.2461G>T (p.Ala821Ser) c.*272G>T (n.*272G>T) c.2083G>T (p.Ala695Ser) c.2203G>T (p.Ala735Ser) c.2457G>T c.1699G>T (p.Ala567Ser) c.2080G>T (p.Ala694Ser) c.1669G>T (p.Ala557Ser) c.1822G>T (p.Ala608Ser) n.2213G>T n.2537G>T n.2180G>T | |
19 | g.11123237C>A | CA404095015 | LDLR | c.2462C>A (p.Ala821Asp) c.*273C>A (n.*273C>A) c.2084C>A (p.Ala695Asp) c.2204C>A (p.Ala735Asp) c.2458C>A c.1700C>A (p.Ala567Asp) c.2081C>A (p.Ala694Asp) c.1670C>A (p.Ala557Asp) c.1823C>A (p.Ala608Asp) n.2214C>A n.2538C>A n.2181C>A | |
19 | g.11123237C>G | CA404095018 | LDLR | c.2462C>G (p.Ala821Gly) c.*273C>G (n.*273C>G) c.2084C>G (p.Ala695Gly) c.2204C>G (p.Ala735Gly) c.2458C>G c.1700C>G (p.Ala567Gly) c.2081C>G (p.Ala694Gly) c.1670C>G (p.Ala557Gly) c.1823C>G (p.Ala608Gly) n.2214C>G n.2538C>G n.2181C>G | |
19 | g.11123237C>T | CA404095029 | LDLR | c.2462C>T (p.Ala821Val) c.*273C>T (n.*273C>T) c.2084C>T (p.Ala695Val) c.2204C>T (p.Ala735Val) c.2458C>T c.1700C>T (p.Ala567Val) c.2081C>T (p.Ala694Val) c.1670C>T (p.Ala557Val) c.1823C>T (p.Ala608Val) n.2214C>T n.2538C>T n.2181C>T | |
19 | g.11123238C>A | CA505486923 | LDLR | c.2463C>A (p.Ala821=) c.*274C>A (n.*274C>A) c.2085C>A (p.Ala695=) c.2205C>A (p.Ala735=) c.2459C>A c.1701C>A (p.Ala567=) c.2082C>A (p.Ala694=) c.1671C>A (p.Ala557=) c.1824C>A (p.Ala608=) n.2215C>A n.2539C>A n.2182C>A | |
19 | g.11123238C= | CA2322777204 | LDLR | c.2463C= (p.Ala821=) c.*274C= (n.*274C=) c.2085C= (p.Ala695=) c.2205C= (p.Ala735=) c.2459C= c.1701C= (p.Ala567=) c.2082C= (p.Ala694=) c.1671C= (p.Ala557=) c.1824C= (p.Ala608=) n.2215C= n.2539C= n.2182C= | |
19 | g.11123238C>G | CA505486924 | LDLR | c.2463C>G (p.Ala821=) c.*274C>G (n.*274C>G) c.2085C>G (p.Ala695=) c.2205C>G (p.Ala735=) c.2459C>G c.1701C>G (p.Ala567=) c.2082C>G (p.Ala694=) c.1671C>G (p.Ala557=) c.1824C>G (p.Ala608=) n.2215C>G n.2539C>G n.2182C>G | |
19 | g.11123238C>T | CA039120 | LDLR | c.2463C>T (p.Ala821=) c.*274C>T (n.*274C>T) c.2085C>T (p.Ala695=) c.2205C>T (p.Ala735=) c.2459C>T c.1701C>T (p.Ala567=) c.2082C>T (p.Ala694=) c.1671C>T (p.Ala557=) c.1824C>T (p.Ala608=) n.2215C>T n.2539C>T n.2182C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123238_11123239insTT | CA2497030102 | LDLR | c.2463_2464insTT (p.Val822LeufsTer2) c.*274_*275insTT (n.*274_*275insTT) c.2085_2086insTT (p.Val696LeufsTer2) c.2205_2206insTT (p.Val736LeufsTer2) c.2459_2460insTT c.1701_1702insTT (p.Val568LeufsTer2) c.2082_2083insTT (p.Val695LeufsTer2) c.1671_1672insTT (p.Val558LeufsTer2) c.1824_1825insTT (p.Val609LeufsTer2) n.2215_2216insTT n.2539_2540insTT n.2182_2183insTT | |
19 | g.11123239G>A | CA039136 | LDLR | c.2464G>A (p.Val822Ile) c.*275G>A (n.*275G>A) c.2086G>A (p.Val696Ile) c.2206G>A (p.Val736Ile) c.2460G>A c.1702G>A (p.Val568Ile) c.2083G>A (p.Val695Ile) c.1672G>A (p.Val558Ile) c.1825G>A (p.Val609Ile) n.2216G>A n.2540G>A n.2183G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123239G>C | CA404095033 | LDLR | c.2464G>C (p.Val822Leu) c.*275G>C (n.*275G>C) c.2086G>C (p.Val696Leu) c.2206G>C (p.Val736Leu) c.2460G>C c.1702G>C (p.Val568Leu) c.2083G>C (p.Val695Leu) c.1672G>C (p.Val558Leu) c.1825G>C (p.Val609Leu) n.2216G>C n.2540G>C n.2183G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123239G= | CA2322777205 | LDLR | c.2464G= (p.Val822=) c.*275G= (n.*275G=) c.2086G= (p.Val696=) c.2206G= (p.Val736=) c.2460G= c.1702G= (p.Val568=) c.2083G= (p.Val695=) c.1672G= (p.Val558=) c.1825G= (p.Val609=) n.2216G= n.2540G= n.2183G= | |
19 | g.11123239G>T | CA404095036 | LDLR | c.2464G>T (p.Val822Leu) c.*275G>T (n.*275G>T) c.2086G>T (p.Val696Leu) c.2206G>T (p.Val736Leu) c.2460G>T c.1702G>T (p.Val568Leu) c.2083G>T (p.Val695Leu) c.1672G>T (p.Val558Leu) c.1825G>T (p.Val609Leu) n.2216G>T n.2540G>T n.2183G>T | |
19 | g.11123240T>A | CA404095037 | LDLR | c.2465T>A (p.Val822Glu) c.*276T>A (n.*276T>A) c.2087T>A (p.Val696Glu) c.2207T>A (p.Val736Glu) c.2461T>A c.1703T>A (p.Val568Glu) c.2084T>A (p.Val695Glu) c.1673T>A (p.Val558Glu) c.1826T>A (p.Val609Glu) n.2217T>A n.2541T>A n.2184T>A | |
19 | g.11123240T>C | CA404095040 | LDLR | c.2465T>C (p.Val822Ala) c.*276T>C (n.*276T>C) c.2087T>C (p.Val696Ala) c.2207T>C (p.Val736Ala) c.2461T>C c.1703T>C (p.Val568Ala) c.2084T>C (p.Val695Ala) c.1673T>C (p.Val558Ala) c.1826T>C (p.Val609Ala) n.2217T>C n.2541T>C n.2184T>C | |
19 | g.11123240T>G | CA404095043 | LDLR | c.2465T>G (p.Val822Gly) c.*276T>G (n.*276T>G) c.2087T>G (p.Val696Gly) c.2207T>G (p.Val736Gly) c.2461T>G c.1703T>G (p.Val568Gly) c.2084T>G (p.Val695Gly) c.1673T>G (p.Val558Gly) c.1826T>G (p.Val609Gly) n.2217T>G n.2541T>G n.2184T>G | ClinVar |
19 | g.11123240dup | CA10585807 | LDLR | c.2465dup (p.Arg823LysfsTer?) c.*276dup (n.*276dup) c.2087dup (p.Arg697LysfsTer?) c.2207dup (p.Arg737LysfsTer?) c.2461dup c.1703dup (p.Arg569LysfsTer?) c.2084dup (p.Arg696LysfsTer?) c.1673dup (p.Arg559LysfsTer?) c.1826dup (p.Arg610LysfsTer?) n.2217dup n.2541dup n.2184dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123241A= | CA2322777206 | LDLR | c.2466A= (p.Val822=) c.*277A= (n.*277A=) c.2088A= (p.Val696=) c.2208A= (p.Val736=) c.2462A= c.1704A= (p.Val568=) c.2085A= (p.Val695=) c.1674A= (p.Val558=) c.1827A= (p.Val609=) n.2218A= n.2542A= n.2185A= | |
19 | g.11123241A>C | CA505486925 | LDLR | c.2466A>C (p.Val822=) c.*277A>C (n.*277A>C) c.2088A>C (p.Val696=) c.2208A>C (p.Val736=) c.2462A>C c.1704A>C (p.Val568=) c.2085A>C (p.Val695=) c.1674A>C (p.Val558=) c.1827A>C (p.Val609=) n.2218A>C n.2542A>C n.2185A>C | |
19 | g.11123241A>G | CA505486927 | LDLR | c.2466A>G (p.Val822=) c.*277A>G (n.*277A>G) c.2088A>G (p.Val696=) c.2208A>G (p.Val736=) c.2462A>G c.1704A>G (p.Val568=) c.2085A>G (p.Val695=) c.1674A>G (p.Val558=) c.1827A>G (p.Val609=) n.2218A>G n.2542A>G n.2185A>G | |
19 | g.11123241A>T | CA505486928 | LDLR | c.2466A>T (p.Val822=) c.*277A>T (n.*277A>T) c.2088A>T (p.Val696=) c.2208A>T (p.Val736=) c.2462A>T c.1704A>T (p.Val568=) c.2085A>T (p.Val695=) c.1674A>T (p.Val558=) c.1827A>T (p.Val609=) n.2218A>T n.2542A>T n.2185A>T | ClinVar dbSNP |
19 | g.11123242A= | CA2322777207 | LDLR | c.2467A= (p.Arg823=) c.*278A= (n.*278A=) c.2089A= (p.Arg697=) c.2209A= (p.Arg737=) c.2463A= c.1705A= (p.Arg569=) c.2086A= (p.Arg696=) c.1675A= (p.Arg559=) c.1828A= (p.Arg610=) n.2219A= n.2543A= n.2186A= | |
19 | g.11123242A>C | CA505486929 | LDLR | c.2467A>C (p.Arg823=) c.*278A>C (n.*278A>C) c.2089A>C (p.Arg697=) c.2209A>C (p.Arg737=) c.2463A>C c.1705A>C (p.Arg569=) c.2086A>C (p.Arg696=) c.1675A>C (p.Arg559=) c.1828A>C (p.Arg610=) n.2219A>C n.2543A>C n.2186A>C | |
19 | g.11123242A>G | CA10585808 | LDLR | c.2467A>G (p.Arg823Gly) c.*278A>G (n.*278A>G) c.2089A>G (p.Arg697Gly) c.2209A>G (p.Arg737Gly) c.2463A>G c.1705A>G (p.Arg569Gly) c.2086A>G (p.Arg696Gly) c.1675A>G (p.Arg559Gly) c.1828A>G (p.Arg610Gly) n.2219A>G n.2543A>G n.2186A>G | ClinVar dbSNP |
19 | g.11123242A>T | CA404095047 | LDLR | c.2467A>T (p.Arg823Trp) c.*278A>T (n.*278A>T) c.2089A>T (p.Arg697Trp) c.2209A>T (p.Arg737Trp) c.2463A>T c.1705A>T (p.Arg569Trp) c.2086A>T (p.Arg696Trp) c.1675A>T (p.Arg559Trp) c.1828A>T (p.Arg610Trp) n.2219A>T n.2543A>T n.2186A>T | |
19 | g.11123243G>A | CA404095054 | LDLR | c.2468G>A (p.Arg823Lys) c.*279G>A (n.*279G>A) c.2090G>A (p.Arg697Lys) c.2210G>A (p.Arg737Lys) c.2464G>A c.1706G>A (p.Arg569Lys) c.2087G>A (p.Arg696Lys) c.1676G>A (p.Arg559Lys) c.1829G>A (p.Arg610Lys) n.2220G>A n.2544G>A n.2187G>A | |
19 | g.11123243G>C | CA404095051 | LDLR | c.2468G>C (p.Arg823Thr) c.*279G>C (n.*279G>C) c.2090G>C (p.Arg697Thr) c.2210G>C (p.Arg737Thr) c.2464G>C c.1706G>C (p.Arg569Thr) c.2087G>C (p.Arg696Thr) c.1676G>C (p.Arg559Thr) c.1829G>C (p.Arg610Thr) n.2220G>C n.2544G>C n.2187G>C | |
19 | g.11123243G= | CA2322777208 | LDLR | c.2468G= (p.Arg823=) c.*279G= (n.*279G=) c.2090G= (p.Arg697=) c.2210G= (p.Arg737=) c.2464G= c.1706G= (p.Arg569=) c.2087G= (p.Arg696=) c.1676G= (p.Arg559=) c.1829G= (p.Arg610=) n.2220G= n.2544G= n.2187G= | |
19 | g.11123243G>T | CA404095050 | LDLR | c.2468G>T (p.Arg823Met) c.*279G>T (n.*279G>T) c.2090G>T (p.Arg697Met) c.2210G>T (p.Arg737Met) c.2464G>T c.1706G>T (p.Arg569Met) c.2087G>T (p.Arg696Met) c.1676G>T (p.Arg559Met) c.1829G>T (p.Arg610Met) n.2220G>T n.2544G>T n.2187G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123244G>A | CA505486931 | LDLR | c.2469G>A (p.Arg823=) c.*280G>A (n.*280G>A) c.2091G>A (p.Arg697=) c.2211G>A (p.Arg737=) c.2465G>A c.1707G>A (p.Arg569=) c.2088G>A (p.Arg696=) c.1677G>A (p.Arg559=) c.1830G>A (p.Arg610=) n.2221G>A n.2545G>A n.2188G>A | ClinVar dbSNP |
19 | g.11123244G>C | CA404095058 | LDLR | c.2469G>C (p.Arg823Ser) c.*280G>C (n.*280G>C) c.2091G>C (p.Arg697Ser) c.2211G>C (p.Arg737Ser) c.2465G>C c.1707G>C (p.Arg569Ser) c.2088G>C (p.Arg696Ser) c.1677G>C (p.Arg559Ser) c.1830G>C (p.Arg610Ser) n.2221G>C n.2545G>C n.2188G>C | |
19 | g.11123244G= | CA2322777209 | LDLR | c.2469G= (p.Arg823=) c.*280G= (n.*280G=) c.2091G= (p.Arg697=) c.2211G= (p.Arg737=) c.2465G= c.1707G= (p.Arg569=) c.2088G= (p.Arg696=) c.1677G= (p.Arg559=) c.1830G= (p.Arg610=) n.2221G= n.2545G= n.2188G= | |
19 | g.11123244G>T | CA404095060 | LDLR | c.2469G>T (p.Arg823Ser) c.*280G>T (n.*280G>T) c.2091G>T (p.Arg697Ser) c.2211G>T (p.Arg737Ser) c.2465G>T c.1707G>T (p.Arg569Ser) c.2088G>T (p.Arg696Ser) c.1677G>T (p.Arg559Ser) c.1830G>T (p.Arg610Ser) n.2221G>T n.2545G>T n.2188G>T | |
19 | g.11123245A>C | CA404095064 | LDLR | c.2470A>C (p.Thr824Pro) c.*281A>C (n.*281A>C) c.2092A>C (p.Thr698Pro) c.2212A>C (p.Thr738Pro) c.2466A>C c.1708A>C (p.Thr570Pro) c.2089A>C (p.Thr697Pro) c.1678A>C (p.Thr560Pro) c.1831A>C (p.Thr611Pro) n.2222A>C n.2546A>C n.2189A>C | |
19 | g.11123245A>G | CA404095068 | LDLR | c.2470A>G (p.Thr824Ala) c.*281A>G (n.*281A>G) c.2092A>G (p.Thr698Ala) c.2212A>G (p.Thr738Ala) c.2466A>G c.1708A>G (p.Thr570Ala) c.2089A>G (p.Thr697Ala) c.1678A>G (p.Thr560Ala) c.1831A>G (p.Thr611Ala) n.2222A>G n.2546A>G n.2189A>G | |
19 | g.11123245A>T | CA404095066 | LDLR | c.2470A>T (p.Thr824Ser) c.*281A>T (n.*281A>T) c.2092A>T (p.Thr698Ser) c.2212A>T (p.Thr738Ser) c.2466A>T c.1708A>T (p.Thr570Ser) c.2089A>T (p.Thr697Ser) c.1678A>T (p.Thr560Ser) c.1831A>T (p.Thr611Ser) n.2222A>T n.2546A>T n.2189A>T | gnomAD v4 |
19 | g.11123246C>A | CA404095070 | LDLR | c.2471C>A (p.Thr824Lys) c.*282C>A (n.*282C>A) c.2093C>A (p.Thr698Lys) c.2213C>A (p.Thr738Lys) c.2467C>A c.1709C>A (p.Thr570Lys) c.2090C>A (p.Thr697Lys) c.1679C>A (p.Thr560Lys) c.1832C>A (p.Thr611Lys) n.2223C>A n.2547C>A n.2190C>A | |
19 | g.11123246C= | CA2322777210 | LDLR | c.2471C= (p.Thr824=) c.*282C= (n.*282C=) c.2093C= (p.Thr698=) c.2213C= (p.Thr738=) c.2467C= c.1709C= (p.Thr570=) c.2090C= (p.Thr697=) c.1679C= (p.Thr560=) c.1832C= (p.Thr611=) n.2223C= n.2547C= n.2190C= | |
19 | g.11123246C>G | CA404095072 | LDLR | c.2471C>G (p.Thr824Arg) c.*282C>G (n.*282C>G) c.2093C>G (p.Thr698Arg) c.2213C>G (p.Thr738Arg) c.2467C>G c.1709C>G (p.Thr570Arg) c.2090C>G (p.Thr697Arg) c.1679C>G (p.Thr560Arg) c.1832C>G (p.Thr611Arg) n.2223C>G n.2547C>G n.2190C>G | |
19 | g.11123246C>T | CA404095075 | LDLR | c.2471C>T (p.Thr824Ile) c.*282C>T (n.*282C>T) c.2093C>T (p.Thr698Ile) c.2213C>T (p.Thr738Ile) c.2467C>T c.1709C>T (p.Thr570Ile) c.2090C>T (p.Thr697Ile) c.1679C>T (p.Thr560Ile) c.1832C>T (p.Thr611Ile) n.2223C>T n.2547C>T n.2190C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123247del | CA1139768693 | LDLR | c.2472del (p.Gln825SerfsTer26) c.*283del (n.*283del) c.2094del (p.Gln699SerfsTer26) c.2214del (p.Gln739SerfsTer26) c.2468del c.1710del (p.Gln571SerfsTer26) c.2091del (p.Gln698SerfsTer26) c.1680del (p.Gln561SerfsTer26) c.1833del (p.Gln612SerfsTer26) n.2224del n.2548del n.2191del | |
19 | g.11123247A= | CA2322777211 | LDLR | c.2472A= (p.Thr824=) c.*283A= (n.*283A=) c.2094A= (p.Thr698=) c.2214A= (p.Thr738=) c.2468A= c.1710A= (p.Thr570=) c.2091A= (p.Thr697=) c.1680A= (p.Thr560=) c.1833A= (p.Thr611=) n.2224A= n.2548A= n.2191A= | |
19 | g.11123247A>C | CA505486937 | LDLR | c.2472A>C (p.Thr824=) c.*283A>C (n.*283A>C) c.2094A>C (p.Thr698=) c.2214A>C (p.Thr738=) c.2468A>C c.1710A>C (p.Thr570=) c.2091A>C (p.Thr697=) c.1680A>C (p.Thr560=) c.1833A>C (p.Thr611=) n.2224A>C n.2548A>C n.2191A>C | dbSNP gnomAD v4 |
19 | g.11123247A>G | CA505486938 | LDLR | c.2472A>G (p.Thr824=) c.*283A>G (n.*283A>G) c.2094A>G (p.Thr698=) c.2214A>G (p.Thr738=) c.2468A>G c.1710A>G (p.Thr570=) c.2091A>G (p.Thr697=) c.1680A>G (p.Thr560=) c.1833A>G (p.Thr611=) n.2224A>G n.2548A>G n.2191A>G | |
19 | g.11123247A>T | CA505486940 | LDLR | c.2472A>T (p.Thr824=) c.*283A>T (n.*283A>T) c.2094A>T (p.Thr698=) c.2214A>T (p.Thr738=) c.2468A>T c.1710A>T (p.Thr570=) c.2091A>T (p.Thr697=) c.1680A>T (p.Thr560=) c.1833A>T (p.Thr611=) n.2224A>T n.2548A>T n.2191A>T | |
19 | g.11123248C>A | CA039143 | LDLR | c.2473C>A (p.Gln825Lys) c.*284C>A (n.*284C>A) c.2095C>A (p.Gln699Lys) c.2215C>A (p.Gln739Lys) c.2469C>A c.1711C>A (p.Gln571Lys) c.2092C>A (p.Gln698Lys) c.1681C>A (p.Gln561Lys) c.1834C>A (p.Gln612Lys) n.2225C>A n.2549C>A n.2192C>A | dbSNP ExAC gnomAD v2 |
19 | g.11123248C= | CA2322777212 | LDLR | c.2473C= (p.Gln825=) c.*284C= (n.*284C=) c.2095C= (p.Gln699=) c.2215C= (p.Gln739=) c.2469C= c.1711C= (p.Gln571=) c.2092C= (p.Gln698=) c.1681C= (p.Gln561=) c.1834C= (p.Gln612=) n.2225C= n.2549C= n.2192C= | |
19 | g.11123248C>G | CA404095080 | LDLR | c.2473C>G (p.Gln825Glu) c.*284C>G (n.*284C>G) c.2095C>G (p.Gln699Glu) c.2215C>G (p.Gln739Glu) c.2469C>G c.1711C>G (p.Gln571Glu) c.2092C>G (p.Gln698Glu) c.1681C>G (p.Gln561Glu) c.1834C>G (p.Gln612Glu) n.2225C>G n.2549C>G n.2192C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123248C>T | CA10585809 | LDLR | c.2473C>T (p.Gln825Ter) c.*284C>T (n.*284C>T) c.2095C>T (p.Gln699Ter) c.2215C>T (p.Gln739Ter) c.2469C>T c.1711C>T (p.Gln571Ter) c.2092C>T (p.Gln698Ter) c.1681C>T (p.Gln561Ter) c.1834C>T (p.Gln612Ter) n.2225C>T n.2549C>T n.2192C>T | ClinVar dbSNP |
19 | g.11123249A>C | CA404095092 | LDLR | c.2474A>C (p.Gln825Pro) c.*285A>C (n.*285A>C) c.2096A>C (p.Gln699Pro) c.2216A>C (p.Gln739Pro) c.2470A>C c.1712A>C (p.Gln571Pro) c.2093A>C (p.Gln698Pro) c.1682A>C (p.Gln561Pro) c.1835A>C (p.Gln612Pro) n.2226A>C n.2550A>C n.2193A>C | |
19 | g.11123249A>G | CA404095087 | LDLR | c.2474A>G (p.Gln825Arg) c.*285A>G (n.*285A>G) c.2096A>G (p.Gln699Arg) c.2216A>G (p.Gln739Arg) c.2470A>G c.1712A>G (p.Gln571Arg) c.2093A>G (p.Gln698Arg) c.1682A>G (p.Gln561Arg) c.1835A>G (p.Gln612Arg) n.2226A>G n.2550A>G n.2193A>G | |
19 | g.11123249A>T | CA404095088 | LDLR | c.2474A>T (p.Gln825Leu) c.*285A>T (n.*285A>T) c.2096A>T (p.Gln699Leu) c.2216A>T (p.Gln739Leu) c.2470A>T c.1712A>T (p.Gln571Leu) c.2093A>T (p.Gln698Leu) c.1682A>T (p.Gln561Leu) c.1835A>T (p.Gln612Leu) n.2226A>T n.2550A>T n.2193A>T | |
19 | g.11123250G>A | CA505486945 | LDLR | c.2475G>A (p.Gln825=) c.*286G>A (n.*286G>A) c.2097G>A (p.Gln699=) c.2217G>A (p.Gln739=) c.2471G>A c.1713G>A (p.Gln571=) c.2094G>A (p.Gln698=) c.1683G>A (p.Gln561=) c.1836G>A (p.Gln612=) n.2227G>A n.2551G>A n.2194G>A | gnomAD v4 |
19 | g.11123250G>C | CA404095095 | LDLR | c.2475G>C (p.Gln825His) c.*286G>C (n.*286G>C) c.2097G>C (p.Gln699His) c.2217G>C (p.Gln739His) c.2471G>C c.1713G>C (p.Gln571His) c.2094G>C (p.Gln698His) c.1683G>C (p.Gln561His) c.1836G>C (p.Gln612His) n.2227G>C n.2551G>C n.2194G>C | |
19 | g.11123250G>T | CA404095103 | LDLR | c.2475G>T (p.Gln825His) c.*286G>T (n.*286G>T) c.2097G>T (p.Gln699His) c.2217G>T (p.Gln739His) c.2471G>T c.1713G>T (p.Gln571His) c.2094G>T (p.Gln698His) c.1683G>T (p.Gln561His) c.1836G>T (p.Gln612His) n.2227G>T n.2551G>T n.2194G>T | |
19 | g.11123251C>A | CA404095107 | LDLR | c.2476C>A (p.His826Asn) c.*287C>A (n.*287C>A) c.2098C>A (p.His700Asn) c.2218C>A (p.His740Asn) c.2472C>A c.1714C>A (p.His572Asn) c.2095C>A (p.His699Asn) c.1684C>A (p.His562Asn) c.1837C>A (p.His613Asn) n.2228C>A n.2552C>A n.2195C>A | |
19 | g.11123251C>G | CA404095109 | LDLR | c.2476C>G (p.His826Asp) c.*287C>G (n.*287C>G) c.2098C>G (p.His700Asp) c.2218C>G (p.His740Asp) c.2472C>G c.1714C>G (p.His572Asp) c.2095C>G (p.His699Asp) c.1684C>G (p.His562Asp) c.1837C>G (p.His613Asp) n.2228C>G n.2552C>G n.2195C>G | |
19 | g.11123251C>T | CA404095112 | LDLR | c.2476C>T (p.His826Tyr) c.*287C>T (n.*287C>T) c.2098C>T (p.His700Tyr) c.2218C>T (p.His740Tyr) c.2472C>T c.1714C>T (p.His572Tyr) c.2095C>T (p.His699Tyr) c.1684C>T (p.His562Tyr) c.1837C>T (p.His613Tyr) n.2228C>T n.2552C>T n.2195C>T | |
19 | g.11123252A>C | CA404095123 | LDLR | c.2477A>C (p.His826Pro) c.*288A>C (n.*288A>C) c.2099A>C (p.His700Pro) c.2219A>C (p.His740Pro) c.2473A>C c.1715A>C (p.His572Pro) c.2096A>C (p.His699Pro) c.1685A>C (p.His562Pro) c.1838A>C (p.His613Pro) n.2229A>C n.2553A>C n.2196A>C | |
19 | g.11123252A>G | CA404095117 | LDLR | c.2477A>G (p.His826Arg) c.*288A>G (n.*288A>G) c.2099A>G (p.His700Arg) c.2219A>G (p.His740Arg) c.2473A>G c.1715A>G (p.His572Arg) c.2096A>G (p.His699Arg) c.1685A>G (p.His562Arg) c.1838A>G (p.His613Arg) n.2229A>G n.2553A>G n.2196A>G | |
19 | g.11123252A>T | CA404095120 | LDLR | c.2477A>T (p.His826Leu) c.*288A>T (n.*288A>T) c.2099A>T (p.His700Leu) c.2219A>T (p.His740Leu) c.2473A>T c.1715A>T (p.His572Leu) c.2096A>T (p.His699Leu) c.1685A>T (p.His562Leu) c.1838A>T (p.His613Leu) n.2229A>T n.2553A>T n.2196A>T | |
19 | g.11123253C>A | CA404095125 | LDLR | c.2478C>A (p.His826Gln) c.*289C>A (n.*289C>A) c.2100C>A (p.His700Gln) c.2220C>A (p.His740Gln) c.2474C>A c.1716C>A (p.His572Gln) c.2097C>A (p.His699Gln) c.1686C>A (p.His562Gln) c.1839C>A (p.His613Gln) n.2230C>A n.2554C>A n.2197C>A | gnomAD v4 |
19 | g.11123253C= | CA2322777213 | LDLR | c.2478C= (p.His826=) c.*289C= (n.*289C=) c.2100C= (p.His700=) c.2220C= (p.His740=) c.2474C= c.1716C= (p.His572=) c.2097C= (p.His699=) c.1686C= (p.His562=) c.1839C= (p.His613=) n.2230C= n.2554C= n.2197C= | |
19 | g.11123253C>G | CA404095128 | LDLR | c.2478C>G (p.His826Gln) c.*289C>G (n.*289C>G) c.2100C>G (p.His700Gln) c.2220C>G (p.His740Gln) c.2474C>G c.1716C>G (p.His572Gln) c.2097C>G (p.His699Gln) c.1686C>G (p.His562Gln) c.1839C>G (p.His613Gln) n.2230C>G n.2554C>G n.2197C>G | |
19 | g.11123253C>T | CA039155 | LDLR | c.2478C>T (p.His826=) c.*289C>T (n.*289C>T) c.2100C>T (p.His700=) c.2220C>T (p.His740=) c.2474C>T c.1716C>T (p.His572=) c.2097C>T (p.His699=) c.1686C>T (p.His562=) c.1839C>T (p.His613=) n.2230C>T n.2554C>T n.2197C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123254A>C | CA404095136 | LDLR | c.2479A>C (p.Thr827Pro) c.*290A>C (n.*290A>C) c.2101A>C (p.Thr701Pro) c.2221A>C (p.Thr741Pro) c.2475A>C c.1717A>C (p.Thr573Pro) c.2098A>C (p.Thr700Pro) c.1687A>C (p.Thr563Pro) c.1840A>C (p.Thr614Pro) n.2231A>C n.2555A>C n.2198A>C | |
19 | g.11123254A>G | CA404095138 | LDLR | c.2479A>G (p.Thr827Ala) c.*290A>G (n.*290A>G) c.2101A>G (p.Thr701Ala) c.2221A>G (p.Thr741Ala) c.2475A>G c.1717A>G (p.Thr573Ala) c.2098A>G (p.Thr700Ala) c.1687A>G (p.Thr563Ala) c.1840A>G (p.Thr614Ala) n.2231A>G n.2555A>G n.2198A>G | |
19 | g.11123254A>T | CA404095141 | LDLR | c.2479A>T (p.Thr827Ser) c.*290A>T (n.*290A>T) c.2101A>T (p.Thr701Ser) c.2221A>T (p.Thr741Ser) c.2475A>T c.1717A>T (p.Thr573Ser) c.2098A>T (p.Thr700Ser) c.1687A>T (p.Thr563Ser) c.1840A>T (p.Thr614Ser) n.2231A>T n.2555A>T n.2198A>T | |
19 | g.11123255C>A | CA404095143 | LDLR | c.2480C>A (p.Thr827Lys) c.*291C>A (n.*291C>A) c.2102C>A (p.Thr701Lys) c.2222C>A (p.Thr741Lys) c.2476C>A c.1718C>A (p.Thr573Lys) c.2099C>A (p.Thr700Lys) c.1688C>A (p.Thr563Lys) c.1841C>A (p.Thr614Lys) n.2232C>A n.2556C>A n.2199C>A | |
19 | g.11123255C>G | CA404095146 | LDLR | c.2480C>G (p.Thr827Arg) c.*291C>G (n.*291C>G) c.2102C>G (p.Thr701Arg) c.2222C>G (p.Thr741Arg) c.2476C>G c.1718C>G (p.Thr573Arg) c.2099C>G (p.Thr700Arg) c.1688C>G (p.Thr563Arg) c.1841C>G (p.Thr614Arg) n.2232C>G n.2556C>G n.2199C>G | |
19 | g.11123255C>T | CA404095149 | LDLR | c.2480C>T (p.Thr827Ile) c.*291C>T (n.*291C>T) c.2102C>T (p.Thr701Ile) c.2222C>T (p.Thr741Ile) c.2476C>T c.1718C>T (p.Thr573Ile) c.2099C>T (p.Thr700Ile) c.1688C>T (p.Thr563Ile) c.1841C>T (p.Thr614Ile) n.2232C>T n.2556C>T n.2199C>T | |
19 | g.11123256A>C | CA505486948 | LDLR | c.2481A>C (p.Thr827=) c.*292A>C (n.*292A>C) c.2103A>C (p.Thr701=) c.2223A>C (p.Thr741=) c.2477A>C c.1719A>C (p.Thr573=) c.2100A>C (p.Thr700=) c.1689A>C (p.Thr563=) c.1842A>C (p.Thr614=) n.2233A>C n.2557A>C n.2200A>C | |
19 | g.11123256A>G | CA505486949 | LDLR | c.2481A>G (p.Thr827=) c.*292A>G (n.*292A>G) c.2103A>G (p.Thr701=) c.2223A>G (p.Thr741=) c.2477A>G c.1719A>G (p.Thr573=) c.2100A>G (p.Thr700=) c.1689A>G (p.Thr563=) c.1842A>G (p.Thr614=) n.2233A>G n.2557A>G n.2200A>G | |
19 | g.11123256A>T | CA505486950 | LDLR | c.2481A>T (p.Thr827=) c.*292A>T (n.*292A>T) c.2103A>T (p.Thr701=) c.2223A>T (p.Thr741=) c.2477A>T c.1719A>T (p.Thr573=) c.2100A>T (p.Thr700=) c.1689A>T (p.Thr563=) c.1842A>T (p.Thr614=) n.2233A>T n.2557A>T n.2200A>T | COSMIC |
19 | g.11123257A= | CA2322777214 | LDLR | c.2482A= (p.Thr828=) c.*293A= (n.*293A=) c.2104A= (p.Thr702=) c.2224A= (p.Thr742=) c.2478A= c.1720A= (p.Thr574=) c.2101A= (p.Thr701=) c.1690A= (p.Thr564=) c.1843A= (p.Thr615=) n.2234A= n.2558A= n.2201A= | |
19 | g.11123257A>C | CA404095152 | LDLR | c.2482A>C (p.Thr828Pro) c.*293A>C (n.*293A>C) c.2104A>C (p.Thr702Pro) c.2224A>C (p.Thr742Pro) c.2478A>C c.1720A>C (p.Thr574Pro) c.2101A>C (p.Thr701Pro) c.1690A>C (p.Thr564Pro) c.1843A>C (p.Thr615Pro) n.2234A>C n.2558A>C n.2201A>C | |
19 | g.11123257A>G | CA404095155 | LDLR | c.2482A>G (p.Thr828Ala) c.*293A>G (n.*293A>G) c.2104A>G (p.Thr702Ala) c.2224A>G (p.Thr742Ala) c.2478A>G c.1720A>G (p.Thr574Ala) c.2101A>G (p.Thr701Ala) c.1690A>G (p.Thr564Ala) c.1843A>G (p.Thr615Ala) n.2234A>G n.2558A>G n.2201A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11123257A>T | CA404095156 | LDLR | c.2482A>T (p.Thr828Ser) c.*293A>T (n.*293A>T) c.2104A>T (p.Thr702Ser) c.2224A>T (p.Thr742Ser) c.2478A>T c.1720A>T (p.Thr574Ser) c.2101A>T (p.Thr701Ser) c.1690A>T (p.Thr564Ser) c.1843A>T (p.Thr615Ser) n.2234A>T n.2558A>T n.2201A>T | |
19 | g.11123257_11123258delinsAC | CA2322777215 | LDLR | c.2482_2483delinsAC (p.Thr828=) c.*293_*294delinsAC (n.*293_*294delinsAC) c.2104_2105delinsAC (p.Thr702=) c.2224_2225delinsAC (p.Thr742=) c.2478_2479delinsAC c.1720_1721delinsAC (p.Thr574=) c.2101_2102delinsAC (p.Thr701=) c.1690_1691delinsAC (p.Thr564=) c.1843_1844delinsAC (p.Thr615=) n.2234_2235delinsAC n.2558_2559delinsAC n.2201_2202delinsAC | |
19 | g.11123258C>A | CA404095168 | LDLR | c.2483C>A (p.Thr828Asn) c.*294C>A (n.*294C>A) c.2105C>A (p.Thr702Asn) c.2225C>A (p.Thr742Asn) c.2479C>A c.1721C>A (p.Thr574Asn) c.2102C>A (p.Thr701Asn) c.1691C>A (p.Thr564Asn) c.1844C>A (p.Thr615Asn) n.2235C>A n.2559C>A n.2202C>A | |
19 | g.11123258C= | CA2322777216 | LDLR | c.2483C= (p.Thr828=) c.*294C= (n.*294C=) c.2105C= (p.Thr702=) c.2225C= (p.Thr742=) c.2479C= c.1721C= (p.Thr574=) c.2102C= (p.Thr701=) c.1691C= (p.Thr564=) c.1844C= (p.Thr615=) n.2235C= n.2559C= n.2202C= | |
19 | g.11123258C>G | CA404095165 | LDLR | c.2483C>G (p.Thr828Ser) c.*294C>G (n.*294C>G) c.2105C>G (p.Thr702Ser) c.2225C>G (p.Thr742Ser) c.2479C>G c.1721C>G (p.Thr574Ser) c.2102C>G (p.Thr701Ser) c.1691C>G (p.Thr564Ser) c.1844C>G (p.Thr615Ser) n.2235C>G n.2559C>G n.2202C>G | |
19 | g.11123258C>T | CA039172 | LDLR | c.2483C>T (p.Thr828Ile) c.*294C>T (n.*294C>T) c.2105C>T (p.Thr702Ile) c.2225C>T (p.Thr742Ile) c.2479C>T c.1721C>T (p.Thr574Ile) c.2102C>T (p.Thr701Ile) c.1691C>T (p.Thr564Ile) c.1844C>T (p.Thr615Ile) n.2235C>T n.2559C>T n.2202C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123259del | CA10585810 | LDLR | c.2484del (p.Thr829ProfsTer22) c.*295del (n.*295del) c.2106del (p.Thr703ProfsTer22) c.2226del (p.Thr743ProfsTer22) c.2480del c.1722del (p.Thr575ProfsTer22) c.2103del (p.Thr702ProfsTer22) c.1692del (p.Thr565ProfsTer22) c.1845del (p.Thr616ProfsTer22) n.2236del n.2560del n.2203del | ClinVar dbSNP |
19 | g.11123259C>A | CA505486954 | LDLR | c.2484C>A (p.Thr828=) c.*295C>A (n.*295C>A) c.2106C>A (p.Thr702=) c.2226C>A (p.Thr742=) c.2480C>A c.1722C>A (p.Thr574=) c.2103C>A (p.Thr701=) c.1692C>A (p.Thr564=) c.1845C>A (p.Thr615=) n.2236C>A n.2560C>A n.2203C>A | gnomAD v4 |
19 | g.11123259C>G | CA505486955 | LDLR | c.2484C>G (p.Thr828=) c.*295C>G (n.*295C>G) c.2106C>G (p.Thr702=) c.2226C>G (p.Thr742=) c.2480C>G c.1722C>G (p.Thr574=) c.2103C>G (p.Thr701=) c.1692C>G (p.Thr564=) c.1845C>G (p.Thr615=) n.2236C>G n.2560C>G n.2203C>G | |
19 | g.11123259C>T | CA505486957 | LDLR | c.2484C>T (p.Thr828=) c.*295C>T (n.*295C>T) c.2106C>T (p.Thr702=) c.2226C>T (p.Thr742=) c.2480C>T c.1722C>T (p.Thr574=) c.2103C>T (p.Thr701=) c.1692C>T (p.Thr564=) c.1845C>T (p.Thr615=) n.2236C>T n.2560C>T n.2203C>T | |
19 | g.11123260A= | CA2322777218 | LDLR | c.2485A= (p.Thr829=) c.*296A= (n.*296A=) c.2107A= (p.Thr703=) c.2227A= (p.Thr743=) c.2481A= c.1723A= (p.Thr575=) c.2104A= (p.Thr702=) c.1693A= (p.Thr565=) c.1846A= (p.Thr616=) n.2237A= n.2561A= n.2204A= | |
19 | g.11123260A>C | CA404095170 | LDLR | c.2485A>C (p.Thr829Pro) c.*296A>C (n.*296A>C) c.2107A>C (p.Thr703Pro) c.2227A>C (p.Thr743Pro) c.2481A>C c.1723A>C (p.Thr575Pro) c.2104A>C (p.Thr702Pro) c.1693A>C (p.Thr565Pro) c.1846A>C (p.Thr616Pro) n.2237A>C n.2561A>C n.2204A>C | |
19 | g.11123260A>G | CA404095172 | LDLR | c.2485A>G (p.Thr829Ala) c.*296A>G (n.*296A>G) c.2107A>G (p.Thr703Ala) c.2227A>G (p.Thr743Ala) c.2481A>G c.1723A>G (p.Thr575Ala) c.2104A>G (p.Thr702Ala) c.1693A>G (p.Thr565Ala) c.1846A>G (p.Thr616Ala) n.2237A>G n.2561A>G n.2204A>G | ClinVar dbSNP |
19 | g.11123260A>T | CA404095173 | LDLR | c.2485A>T (p.Thr829Ser) c.*296A>T (n.*296A>T) c.2107A>T (p.Thr703Ser) c.2227A>T (p.Thr743Ser) c.2481A>T c.1723A>T (p.Thr575Ser) c.2104A>T (p.Thr702Ser) c.1693A>T (p.Thr565Ser) c.1846A>T (p.Thr616Ser) n.2237A>T n.2561A>T n.2204A>T | |
19 | g.11123260_11123261delinsAC | CA2322777217 | LDLR | c.2485_2486delinsAC (p.Thr829=) c.*296_*297delinsAC (n.*296_*297delinsAC) c.2107_2108delinsAC (p.Thr703=) c.2227_2228delinsAC (p.Thr743=) c.2481_2482delinsAC c.1723_1724delinsAC (p.Thr575=) c.2104_2105delinsAC (p.Thr702=) c.1693_1694delinsAC (p.Thr565=) c.1846_1847delinsAC (p.Thr616=) n.2237_2238delinsAC n.2561_2562delinsAC n.2204_2205delinsAC | |
19 | g.11123261C>A | CA404095178 | LDLR | c.2486C>A (p.Thr829Asn) c.*297C>A (n.*297C>A) c.2108C>A (p.Thr703Asn) c.2228C>A (p.Thr743Asn) c.2482C>A c.1724C>A (p.Thr575Asn) c.2105C>A (p.Thr702Asn) c.1694C>A (p.Thr565Asn) c.1847C>A (p.Thr616Asn) n.2238C>A n.2562C>A n.2205C>A | |
19 | g.11123261C= | CA2322777219 | LDLR | c.2486C= (p.Thr829=) c.*297C= (n.*297C=) c.2108C= (p.Thr703=) c.2228C= (p.Thr743=) c.2482C= c.1724C= (p.Thr575=) c.2105C= (p.Thr702=) c.1694C= (p.Thr565=) c.1847C= (p.Thr616=) n.2238C= n.2562C= n.2205C= | |
19 | g.11123261C>G | CA404095179 | LDLR | c.2486C>G (p.Thr829Ser) c.*297C>G (n.*297C>G) c.2108C>G (p.Thr703Ser) c.2228C>G (p.Thr743Ser) c.2482C>G c.1724C>G (p.Thr575Ser) c.2105C>G (p.Thr702Ser) c.1694C>G (p.Thr565Ser) c.1847C>G (p.Thr616Ser) n.2238C>G n.2562C>G n.2205C>G | |
19 | g.11123261C>T | CA305305137 | LDLR | c.2486C>T (p.Thr829Ile) c.*297C>T (n.*297C>T) c.2108C>T (p.Thr703Ile) c.2228C>T (p.Thr743Ile) c.2482C>T c.1724C>T (p.Thr575Ile) c.2105C>T (p.Thr702Ile) c.1694C>T (p.Thr565Ile) c.1847C>T (p.Thr616Ile) n.2238C>T n.2562C>T n.2205C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11123263dup | CA2697556242 | LDLR | c.2488dup (p.Arg830ProfsTer?) c.*299dup (n.*299dup) c.2110dup (p.Arg704ProfsTer?) c.2230dup (p.Arg744ProfsTer?) c.2484dup c.1726dup (p.Arg576ProfsTer?) c.2107dup (p.Arg703ProfsTer?) c.1696dup (p.Arg566ProfsTer?) c.1849dup (p.Arg617ProfsTer?) n.2240dup n.2564dup n.2207dup | ClinVar |
19 | g.11123263del | CA10585811 | LDLR | c.2488del (p.Arg830AspfsTer21) c.*299del (n.*299del) c.2110del (p.Arg704AspfsTer21) c.2230del (p.Arg744AspfsTer21) c.2484del c.1726del (p.Arg576AspfsTer21) c.2107del (p.Arg703AspfsTer21) c.1696del (p.Arg566AspfsTer21) c.1849del (p.Arg617AspfsTer21) n.2240del n.2564del n.2207del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123262_11123267dup | CA645373245 | LDLR | c.2487_2492dup (p.Pro831_Val832insArgPro) c.*298_*303dup (n.*298_*303dup) c.2109_2114dup (p.Pro705_Val706insArgPro) c.2229_2234dup (p.Pro745_Val746insArgPro) c.2483_2488dup c.1725_1730dup (p.Pro577_Val578insArgPro) c.2106_2111dup (p.Pro704_Val705insArgPro) c.1695_1700dup (p.Pro567_Val568insArgPro) c.1848_1853dup (p.Pro618_Val619insArgPro) n.2239_2244dup n.2563_2568dup n.2206_2211dup | ClinVar dbSNP |
19 | g.11123262C>A | CA505486964 | LDLR | c.2487C>A (p.Thr829=) c.*298C>A (n.*298C>A) c.2109C>A (p.Thr703=) c.2229C>A (p.Thr743=) c.2483C>A c.1725C>A (p.Thr575=) c.2106C>A (p.Thr702=) c.1695C>A (p.Thr565=) c.1848C>A (p.Thr616=) n.2239C>A n.2563C>A n.2206C>A | |
19 | g.11123262C= | CA2322777220 | LDLR | c.2487C= (p.Thr829=) c.*298C= (n.*298C=) c.2109C= (p.Thr703=) c.2229C= (p.Thr743=) c.2483C= c.1725C= (p.Thr575=) c.2106C= (p.Thr702=) c.1695C= (p.Thr565=) c.1848C= (p.Thr616=) n.2239C= n.2563C= n.2206C= | |
19 | g.11123262C>G | CA505486962 | LDLR | c.2487C>G (p.Thr829=) c.*298C>G (n.*298C>G) c.2109C>G (p.Thr703=) c.2229C>G (p.Thr743=) c.2483C>G c.1725C>G (p.Thr575=) c.2106C>G (p.Thr702=) c.1695C>G (p.Thr565=) c.1848C>G (p.Thr616=) n.2239C>G n.2563C>G n.2206C>G | |
19 | g.11123262C>T | CA505486965 | LDLR | c.2487C>T (p.Thr829=) c.*298C>T (n.*298C>T) c.2109C>T (p.Thr703=) c.2229C>T (p.Thr743=) c.2483C>T c.1725C>T (p.Thr575=) c.2106C>T (p.Thr702=) c.1695C>T (p.Thr565=) c.1848C>T (p.Thr616=) n.2239C>T n.2563C>T n.2206C>T | dbSNP |
19 | g.11123263C>A | CA505486966 | LDLR | c.2488C>A (p.Arg830=) c.*299C>A (n.*299C>A) c.2110C>A (p.Arg704=) c.2230C>A (p.Arg744=) c.2484C>A c.1726C>A (p.Arg576=) c.2107C>A (p.Arg703=) c.1696C>A (p.Arg566=) c.1849C>A (p.Arg617=) n.2240C>A n.2564C>A n.2207C>A | |
19 | g.11123263C= | CA2322777221 | LDLR | c.2488C= (p.Arg830=) c.*299C= (n.*299C=) c.2110C= (p.Arg704=) c.2230C= (p.Arg744=) c.2484C= c.1726C= (p.Arg576=) c.2107C= (p.Arg703=) c.1696C= (p.Arg566=) c.1849C= (p.Arg617=) n.2240C= n.2564C= n.2207C= | |
19 | g.11123263C>G | CA404095184 | LDLR | c.2488C>G (p.Arg830Gly) c.*299C>G (n.*299C>G) c.2110C>G (p.Arg704Gly) c.2230C>G (p.Arg744Gly) c.2484C>G c.1726C>G (p.Arg576Gly) c.2107C>G (p.Arg703Gly) c.1696C>G (p.Arg566Gly) c.1849C>G (p.Arg617Gly) n.2240C>G n.2564C>G n.2207C>G | |
19 | g.11123263C>T | CA305305141 | LDLR | c.2488C>T (p.Arg830Ter) c.*299C>T (n.*299C>T) c.2110C>T (p.Arg704Ter) c.2230C>T (p.Arg744Ter) c.2484C>T c.1726C>T (p.Arg576Ter) c.2107C>T (p.Arg703Ter) c.1696C>T (p.Arg566Ter) c.1849C>T (p.Arg617Ter) n.2240C>T n.2564C>T n.2207C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123263_11123265delinsTGG | CA2825002701 | LDLR | c.2488_2490delinsTGG (p.Arg830Trp) c.*299_*301delinsTGG (n.*299_*301delinsTGG) c.2110_2112delinsTGG (p.Arg704Trp) c.2230_2232delinsTGG (p.Arg744Trp) c.2484_2486delinsTGG c.1726_1728delinsTGG (p.Arg576Trp) c.2107_2109delinsTGG (p.Arg703Trp) c.1696_1698delinsTGG (p.Arg566Trp) c.1849_1851delinsTGG (p.Arg617Trp) n.2240_2242delinsTGG n.2564_2566delinsTGG n.2207_2209delinsTGG | ClinVar |
19 | g.11123264G>A | CA023651 | LDLR | c.2489G>A (p.Arg830Gln) c.*300G>A (n.*300G>A) c.2111G>A (p.Arg704Gln) c.2231G>A (p.Arg744Gln) c.2485G>A c.1727G>A (p.Arg576Gln) c.2108G>A (p.Arg703Gln) c.1697G>A (p.Arg566Gln) c.1850G>A (p.Arg617Gln) n.2241G>A n.2565G>A n.2208G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123264G>C | CA404095189 | LDLR | c.2489G>C (p.Arg830Pro) c.*300G>C (n.*300G>C) c.2111G>C (p.Arg704Pro) c.2231G>C (p.Arg744Pro) c.2485G>C c.1727G>C (p.Arg576Pro) c.2108G>C (p.Arg703Pro) c.1697G>C (p.Arg566Pro) c.1850G>C (p.Arg617Pro) n.2241G>C n.2565G>C n.2208G>C | |
19 | g.11123264G= | CA2322777223 | LDLR | c.2489G= (p.Arg830=) c.*300G= (n.*300G=) c.2111G= (p.Arg704=) c.2231G= (p.Arg744=) c.2485G= c.1727G= (p.Arg576=) c.2108G= (p.Arg703=) c.1697G= (p.Arg566=) c.1850G= (p.Arg617=) n.2241G= n.2565G= n.2208G= | |
19 | g.11123264G>T | CA404095194 | LDLR | c.2489G>T (p.Arg830Leu) c.*300G>T (n.*300G>T) c.2111G>T (p.Arg704Leu) c.2231G>T (p.Arg744Leu) c.2485G>T c.1727G>T (p.Arg576Leu) c.2108G>T (p.Arg703Leu) c.1697G>T (p.Arg566Leu) c.1850G>T (p.Arg617Leu) n.2241G>T n.2565G>T n.2208G>T | |
19 | g.11123264_11123265delinsAG | CA658658781 | LDLR | c.2489_2490delinsAG (p.Arg830Gln) c.*300_*301delinsAG (n.*300_*301delinsAG) c.2111_2112delinsAG (p.Arg704Gln) c.2231_2232delinsAG (p.Arg744Gln) c.2485_2486delinsAG c.1727_1728delinsAG (p.Arg576Gln) c.2108_2109delinsAG (p.Arg703Gln) c.1697_1698delinsAG (p.Arg566Gln) c.1850_1851delinsAG (p.Arg617Gln) n.2241_2242delinsAG n.2565_2566delinsAG n.2208_2209delinsAG | ClinVar dbSNP |
19 | g.11123264_11123265delinsGA | CA2322777222 | LDLR | c.2489_2490delinsGA (p.Arg830=) c.*300_*301delinsGA (n.*300_*301delinsGA) c.2111_2112delinsGA (p.Arg704=) c.2231_2232delinsGA (p.Arg744=) c.2485_2486delinsGA c.1727_1728delinsGA (p.Arg576=) c.2108_2109delinsGA (p.Arg703=) c.1697_1698delinsGA (p.Arg566=) c.1850_1851delinsGA (p.Arg617=) n.2241_2242delinsGA n.2565_2566delinsGA n.2208_2209delinsGA | |
19 | g.11123265A= | CA2322777224 | LDLR | c.2490A= (p.Arg830=) c.*301A= (n.*301A=) c.2112A= (p.Arg704=) c.2232A= (p.Arg744=) c.2486A= c.1728A= (p.Arg576=) c.2109A= (p.Arg703=) c.1698A= (p.Arg566=) c.1851A= (p.Arg617=) n.2242A= n.2566A= n.2209A= | |
19 | g.11123265A>C | CA505486969 | LDLR | c.2490A>C (p.Arg830=) c.*301A>C (n.*301A>C) c.2112A>C (p.Arg704=) c.2232A>C (p.Arg744=) c.2486A>C c.1728A>C (p.Arg576=) c.2109A>C (p.Arg703=) c.1698A>C (p.Arg566=) c.1851A>C (p.Arg617=) n.2242A>C n.2566A>C n.2209A>C | |
19 | g.11123265A>G | CA039203 | LDLR | c.2490A>G (p.Arg830=) c.*301A>G (n.*301A>G) c.2112A>G (p.Arg704=) c.2232A>G (p.Arg744=) c.2486A>G c.1728A>G (p.Arg576=) c.2109A>G (p.Arg703=) c.1698A>G (p.Arg566=) c.1851A>G (p.Arg617=) n.2242A>G n.2566A>G n.2209A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123265A>T | CA505486970 | LDLR | c.2490A>T (p.Arg830=) c.*301A>T (n.*301A>T) c.2112A>T (p.Arg704=) c.2232A>T (p.Arg744=) c.2486A>T c.1728A>T (p.Arg576=) c.2109A>T (p.Arg703=) c.1698A>T (p.Arg566=) c.1851A>T (p.Arg617=) n.2242A>T n.2566A>T n.2209A>T | |
19 | g.11123265_11123323del | CA2573156041 | LDLR | c.2490_2548del (p.Pro831SerfsTer17) c.*301_*359del (n.*301_*359del) c.2112_2170del (p.Pro705SerfsTer17) c.2232_2290del (p.Pro745SerfsTer17) c.2486_2544del c.1728_1786del (p.Pro577SerfsTer17) c.2109_2167del (p.Pro704SerfsTer17) c.1698_1756del (p.Pro567SerfsTer17) c.2232_2290del (p.Pro745SerfsTer26) c.1851_1909del (p.Pro618SerfsTer17) n.2242_2300del n.2566_2624del n.2209_2267del | ClinVar dbSNP |
19 | g.11123265_11123324delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT | CA2322777225 | LDLR | c.2490_2549delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg830=) c.*301_*360delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (n.*301_*360delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT) c.2112_2171delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg704=) c.2232_2291delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg744=) c.2486_2545delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT c.1728_1787delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg576=) c.2109_2168delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg703=) c.1698_1757delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg566=) c.1851_1910delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg617=) n.2242_2301delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT n.2566_2625delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT n.2209_2268delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT | |
19 | g.11123266C>A | CA404095202 | LDLR | c.2491C>A (p.Pro831Thr) c.*302C>A (n.*302C>A) c.2113C>A (p.Pro705Thr) c.2233C>A (p.Pro745Thr) c.2487C>A c.1729C>A (p.Pro577Thr) c.2110C>A (p.Pro704Thr) c.1699C>A (p.Pro567Thr) c.1852C>A (p.Pro618Thr) n.2243C>A n.2567C>A n.2210C>A | |
19 | g.11123266C= | CA2322777226 | LDLR | c.2491C= (p.Pro831=) c.*302C= (n.*302C=) c.2113C= (p.Pro705=) c.2233C= (p.Pro745=) c.2487C= c.1729C= (p.Pro577=) c.2110C= (p.Pro704=) c.1699C= (p.Pro567=) c.1852C= (p.Pro618=) n.2243C= n.2567C= n.2210C= | |
19 | g.11123266C>G | CA404095198 | LDLR | c.2491C>G (p.Pro831Ala) c.*302C>G (n.*302C>G) c.2113C>G (p.Pro705Ala) c.2233C>G (p.Pro745Ala) c.2487C>G c.1729C>G (p.Pro577Ala) c.2110C>G (p.Pro704Ala) c.1699C>G (p.Pro567Ala) c.1852C>G (p.Pro618Ala) n.2243C>G n.2567C>G n.2210C>G | |
19 | g.11123266C>T | CA305305147 | LDLR | c.2491C>T (p.Pro831Ser) c.*302C>T (n.*302C>T) c.2113C>T (p.Pro705Ser) c.2233C>T (p.Pro745Ser) c.2487C>T c.1729C>T (p.Pro577Ser) c.2110C>T (p.Pro704Ser) c.1699C>T (p.Pro567Ser) c.1852C>T (p.Pro618Ser) n.2243C>T n.2567C>T n.2210C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123266_11123324del | CA658799127 | LDLR | c.2491_2549del (p.Pro831SerfsTer17) c.*302_*360del (n.*302_*360del) c.2113_2171del (p.Pro705SerfsTer17) c.2233_2291del (p.Pro745SerfsTer17) c.2487_2545del c.1729_1787del (p.Pro577SerfsTer17) c.2110_2168del (p.Pro704SerfsTer17) c.1699_1757del (p.Pro567SerfsTer17) c.2233_2291del (p.Pro745SerfsTer26) c.1852_1910del (p.Pro618SerfsTer17) n.2243_2301del n.2567_2625del n.2210_2268del | ClinVar dbSNP |
19 | g.11123267C>A | CA404095207 | LDLR | c.2492C>A (p.Pro831His) c.*303C>A (n.*303C>A) c.2114C>A (p.Pro705His) c.2234C>A (p.Pro745His) c.2488C>A c.1730C>A (p.Pro577His) c.2111C>A (p.Pro704His) c.1700C>A (p.Pro567His) c.1853C>A (p.Pro618His) n.2244C>A n.2568C>A n.2211C>A | |
19 | g.11123267C>G | CA404095213 | LDLR | c.2492C>G (p.Pro831Arg) c.*303C>G (n.*303C>G) c.2114C>G (p.Pro705Arg) c.2234C>G (p.Pro745Arg) c.2488C>G c.1730C>G (p.Pro577Arg) c.2111C>G (p.Pro704Arg) c.1700C>G (p.Pro567Arg) c.1853C>G (p.Pro618Arg) n.2244C>G n.2568C>G n.2211C>G | |
19 | g.11123267C>T | CA404095215 | LDLR | c.2492C>T (p.Pro831Leu) c.*303C>T (n.*303C>T) c.2114C>T (p.Pro705Leu) c.2234C>T (p.Pro745Leu) c.2488C>T c.1730C>T (p.Pro577Leu) c.2111C>T (p.Pro704Leu) c.1700C>T (p.Pro567Leu) c.1853C>T (p.Pro618Leu) n.2244C>T n.2568C>T n.2211C>T | ClinVar |
19 | g.11123268T>A | CA505486973 | LDLR | c.2493T>A (p.Pro831=) c.*304T>A (n.*304T>A) c.2115T>A (p.Pro705=) c.2235T>A (p.Pro745=) c.2489T>A c.1731T>A (p.Pro577=) c.2112T>A (p.Pro704=) c.1701T>A (p.Pro567=) c.1854T>A (p.Pro618=) n.2245T>A n.2569T>A n.2212T>A | |
19 | g.11123268T>C | CA505486975 | LDLR | c.2493T>C (p.Pro831=) c.*304T>C (n.*304T>C) c.2115T>C (p.Pro705=) c.2235T>C (p.Pro745=) c.2489T>C c.1731T>C (p.Pro577=) c.2112T>C (p.Pro704=) c.1701T>C (p.Pro567=) c.1854T>C (p.Pro618=) n.2245T>C n.2569T>C n.2212T>C | |
19 | g.11123268T>G | CA505486974 | LDLR | c.2493T>G (p.Pro831=) c.*304T>G (n.*304T>G) c.2115T>G (p.Pro705=) c.2235T>G (p.Pro745=) c.2489T>G c.1731T>G (p.Pro577=) c.2112T>G (p.Pro704=) c.1701T>G (p.Pro567=) c.1854T>G (p.Pro618=) n.2245T>G n.2569T>G n.2212T>G | |
19 | g.11123269G>A | CA404095217 | LDLR | c.2494G>A (p.Val832Ile) c.*305G>A (n.*305G>A) c.2116G>A (p.Val706Ile) c.2236G>A (p.Val746Ile) c.2490G>A c.1732G>A (p.Val578Ile) c.2113G>A (p.Val705Ile) c.1702G>A (p.Val568Ile) c.1855G>A (p.Val619Ile) n.2246G>A n.2570G>A n.2213G>A | |
19 | g.11123269G>C | CA404095218 | LDLR | c.2494G>C (p.Val832Leu) c.*305G>C (n.*305G>C) c.2116G>C (p.Val706Leu) c.2236G>C (p.Val746Leu) c.2490G>C c.1732G>C (p.Val578Leu) c.2113G>C (p.Val705Leu) c.1702G>C (p.Val568Leu) c.1855G>C (p.Val619Leu) n.2246G>C n.2570G>C n.2213G>C | |
19 | g.11123269G>T | CA404095219 | LDLR | c.2494G>T (p.Val832Phe) c.*305G>T (n.*305G>T) c.2116G>T (p.Val706Phe) c.2236G>T (p.Val746Phe) c.2490G>T c.1732G>T (p.Val578Phe) c.2113G>T (p.Val705Phe) c.1702G>T (p.Val568Phe) c.1855G>T (p.Val619Phe) n.2246G>T n.2570G>T n.2213G>T | |
19 | g.11123270T>A | CA404095221 | LDLR | c.2495T>A (p.Val832Asp) c.*306T>A (n.*306T>A) c.2117T>A (p.Val706Asp) c.2237T>A (p.Val746Asp) c.2491T>A c.1733T>A (p.Val578Asp) c.2114T>A (p.Val705Asp) c.1703T>A (p.Val568Asp) c.1856T>A (p.Val619Asp) n.2247T>A n.2571T>A n.2214T>A | |
19 | g.11123270T>C | CA404095223 | LDLR | c.2495T>C (p.Val832Ala) c.*306T>C (n.*306T>C) c.2117T>C (p.Val706Ala) c.2237T>C (p.Val746Ala) c.2491T>C c.1733T>C (p.Val578Ala) c.2114T>C (p.Val705Ala) c.1703T>C (p.Val568Ala) c.1856T>C (p.Val619Ala) n.2247T>C n.2571T>C n.2214T>C | |
19 | g.11123270T>G | CA404095226 | LDLR | c.2495T>G (p.Val832Gly) c.*306T>G (n.*306T>G) c.2117T>G (p.Val706Gly) c.2237T>G (p.Val746Gly) c.2491T>G c.1733T>G (p.Val578Gly) c.2114T>G (p.Val705Gly) c.1703T>G (p.Val568Gly) c.1856T>G (p.Val619Gly) n.2247T>G n.2571T>G n.2214T>G | |
19 | g.11123271del | CA2497030104 | LDLR | c.2496del (p.Asp834ThrfsTer17) c.*307del (n.*307del) c.2118del (p.Asp708ThrfsTer17) c.2238del (p.Asp748ThrfsTer17) c.2492del c.1734del (p.Asp580ThrfsTer17) c.2115del (p.Asp707ThrfsTer17) c.1704del (p.Asp570ThrfsTer17) c.1857del (p.Asp621ThrfsTer17) n.2248del n.2572del n.2215del | |
19 | g.11123271T>A | CA505486979 | LDLR | c.2496T>A (p.Val832=) c.*307T>A (n.*307T>A) c.2118T>A (p.Val706=) c.2238T>A (p.Val746=) c.2492T>A c.1734T>A (p.Val578=) c.2115T>A (p.Val705=) c.1704T>A (p.Val568=) c.1857T>A (p.Val619=) n.2248T>A n.2572T>A n.2215T>A | |
19 | g.11123271T>C | CA505486980 | LDLR | c.2496T>C (p.Val832=) c.*307T>C (n.*307T>C) c.2118T>C (p.Val706=) c.2238T>C (p.Val746=) c.2492T>C c.1734T>C (p.Val578=) c.2115T>C (p.Val705=) c.1704T>C (p.Val568=) c.1857T>C (p.Val619=) n.2248T>C n.2572T>C n.2215T>C | |
19 | g.11123271T>G | CA505486981 | LDLR | c.2496T>G (p.Val832=) c.*307T>G (n.*307T>G) c.2118T>G (p.Val706=) c.2238T>G (p.Val746=) c.2492T>G c.1734T>G (p.Val578=) c.2115T>G (p.Val705=) c.1704T>G (p.Val568=) c.1857T>G (p.Val619=) n.2248T>G n.2572T>G n.2215T>G | |
19 | g.11123272C>A | CA404095231 | LDLR | c.2497C>A (p.Pro833Thr) c.*308C>A (n.*308C>A) c.2119C>A (p.Pro707Thr) c.2239C>A (p.Pro747Thr) c.2493C>A c.1735C>A (p.Pro579Thr) c.2116C>A (p.Pro706Thr) c.1705C>A (p.Pro569Thr) c.1858C>A (p.Pro620Thr) n.2249C>A n.2573C>A n.2216C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123272C= | CA2322777227 | LDLR | c.2497C= (p.Pro833=) c.*308C= (n.*308C=) c.2119C= (p.Pro707=) c.2239C= (p.Pro747=) c.2493C= c.1735C= (p.Pro579=) c.2116C= (p.Pro706=) c.1705C= (p.Pro569=) c.1858C= (p.Pro620=) n.2249C= n.2573C= n.2216C= | |
19 | g.11123272C>G | CA404095233 | LDLR | c.2497C>G (p.Pro833Ala) c.*308C>G (n.*308C>G) c.2119C>G (p.Pro707Ala) c.2239C>G (p.Pro747Ala) c.2493C>G c.1735C>G (p.Pro579Ala) c.2116C>G (p.Pro706Ala) c.1705C>G (p.Pro569Ala) c.1858C>G (p.Pro620Ala) n.2249C>G n.2573C>G n.2216C>G | |
19 | g.11123272C>T | CA404095234 | LDLR | c.2497C>T (p.Pro833Ser) c.*308C>T (n.*308C>T) c.2119C>T (p.Pro707Ser) c.2239C>T (p.Pro747Ser) c.2493C>T c.1735C>T (p.Pro579Ser) c.2116C>T (p.Pro706Ser) c.1705C>T (p.Pro569Ser) c.1858C>T (p.Pro620Ser) n.2249C>T n.2573C>T n.2216C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11123274del | CA2695238658 | LDLR | c.2499del (p.Asp834ThrfsTer17) c.*310del (n.*310del) c.2121del (p.Asp708ThrfsTer17) c.2241del (p.Asp748ThrfsTer17) c.2495del c.1737del (p.Asp580ThrfsTer17) c.2118del (p.Asp707ThrfsTer17) c.1707del (p.Asp570ThrfsTer17) c.1860del (p.Asp621ThrfsTer17) n.2251del n.2575del n.2218del | |
19 | g.11123273C>A | CA404095237 | LDLR | c.2498C>A (p.Pro833His) c.*309C>A (n.*309C>A) c.2120C>A (p.Pro707His) c.2240C>A (p.Pro747His) c.2494C>A c.1736C>A (p.Pro579His) c.2117C>A (p.Pro706His) c.1706C>A (p.Pro569His) c.1859C>A (p.Pro620His) n.2250C>A n.2574C>A n.2217C>A | |
19 | g.11123273C>G | CA404095240 | LDLR | c.2498C>G (p.Pro833Arg) c.*309C>G (n.*309C>G) c.2120C>G (p.Pro707Arg) c.2240C>G (p.Pro747Arg) c.2494C>G c.1736C>G (p.Pro579Arg) c.2117C>G (p.Pro706Arg) c.1706C>G (p.Pro569Arg) c.1859C>G (p.Pro620Arg) n.2250C>G n.2574C>G n.2217C>G | |
19 | g.11123273C>T | CA404095238 | LDLR | c.2498C>T (p.Pro833Leu) c.*309C>T (n.*309C>T) c.2120C>T (p.Pro707Leu) c.2240C>T (p.Pro747Leu) c.2494C>T c.1736C>T (p.Pro579Leu) c.2117C>T (p.Pro706Leu) c.1706C>T (p.Pro569Leu) c.1859C>T (p.Pro620Leu) n.2250C>T n.2574C>T n.2217C>T | |
19 | g.11123274C>A | CA505486984 | LDLR | c.2499C>A (p.Pro833=) c.*310C>A (n.*310C>A) c.2121C>A (p.Pro707=) c.2241C>A (p.Pro747=) c.2495C>A c.1737C>A (p.Pro579=) c.2118C>A (p.Pro706=) c.1707C>A (p.Pro569=) c.1860C>A (p.Pro620=) n.2251C>A n.2575C>A n.2218C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123274C= | CA2322777228 | LDLR | c.2499C= (p.Pro833=) c.*310C= (n.*310C=) c.2121C= (p.Pro707=) c.2241C= (p.Pro747=) c.2495C= c.1737C= (p.Pro579=) c.2118C= (p.Pro706=) c.1707C= (p.Pro569=) c.1860C= (p.Pro620=) n.2251C= n.2575C= n.2218C= | |
19 | g.11123274C>G | CA505486986 | LDLR | c.2499C>G (p.Pro833=) c.*310C>G (n.*310C>G) c.2121C>G (p.Pro707=) c.2241C>G (p.Pro747=) c.2495C>G c.1737C>G (p.Pro579=) c.2118C>G (p.Pro706=) c.1707C>G (p.Pro569=) c.1860C>G (p.Pro620=) n.2251C>G n.2575C>G n.2218C>G | |
19 | g.11123274C>T | CA039214 | LDLR | c.2499C>T (p.Pro833=) c.*310C>T (n.*310C>T) c.2121C>T (p.Pro707=) c.2241C>T (p.Pro747=) c.2495C>T c.1737C>T (p.Pro579=) c.2118C>T (p.Pro706=) c.1707C>T (p.Pro569=) c.1860C>T (p.Pro620=) n.2251C>T n.2575C>T n.2218C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123275G>A | CA023653 | LDLR | c.2500G>A (p.Asp834Asn) c.*311G>A (n.*311G>A) c.2122G>A (p.Asp708Asn) c.2242G>A (p.Asp748Asn) c.2496G>A c.1738G>A (p.Asp580Asn) c.2119G>A (p.Asp707Asn) c.1708G>A (p.Asp570Asn) c.1861G>A (p.Asp621Asn) n.2252G>A n.2576G>A n.2219G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123275G>C | CA404095246 | LDLR | c.2500G>C (p.Asp834His) c.*311G>C (n.*311G>C) c.2122G>C (p.Asp708His) c.2242G>C (p.Asp748His) c.2496G>C c.1738G>C (p.Asp580His) c.2119G>C (p.Asp707His) c.1708G>C (p.Asp570His) c.1861G>C (p.Asp621His) n.2252G>C n.2576G>C n.2219G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123275G= | CA2322777229 | LDLR | c.2500G= (p.Asp834=) c.*311G= (n.*311G=) c.2122G= (p.Asp708=) c.2242G= (p.Asp748=) c.2496G= c.1738G= (p.Asp580=) c.2119G= (p.Asp707=) c.1708G= (p.Asp570=) c.1861G= (p.Asp621=) n.2252G= n.2576G= n.2219G= | |
19 | g.11123275G>T | CA404095250 | LDLR | c.2500G>T (p.Asp834Tyr) c.*311G>T (n.*311G>T) c.2122G>T (p.Asp708Tyr) c.2242G>T (p.Asp748Tyr) c.2496G>T c.1738G>T (p.Asp580Tyr) c.2119G>T (p.Asp707Tyr) c.1708G>T (p.Asp570Tyr) c.1861G>T (p.Asp621Tyr) n.2252G>T n.2576G>T n.2219G>T | |
19 | g.11123276A>C | CA404095256 | LDLR | c.2501A>C (p.Asp834Ala) c.*312A>C (n.*312A>C) c.2123A>C (p.Asp708Ala) c.2243A>C (p.Asp748Ala) c.2497A>C c.1739A>C (p.Asp580Ala) c.2120A>C (p.Asp707Ala) c.1709A>C (p.Asp570Ala) c.1862A>C (p.Asp621Ala) n.2253A>C n.2577A>C n.2220A>C | |
19 | g.11123276A>G | CA404095268 | LDLR | c.2501A>G (p.Asp834Gly) c.*312A>G (n.*312A>G) c.2123A>G (p.Asp708Gly) c.2243A>G (p.Asp748Gly) c.2497A>G c.1739A>G (p.Asp580Gly) c.2120A>G (p.Asp707Gly) c.1709A>G (p.Asp570Gly) c.1862A>G (p.Asp621Gly) n.2253A>G n.2577A>G n.2220A>G | |
19 | g.11123276A>T | CA404095272 | LDLR | c.2501A>T (p.Asp834Val) c.*312A>T (n.*312A>T) c.2123A>T (p.Asp708Val) c.2243A>T (p.Asp748Val) c.2497A>T c.1739A>T (p.Asp580Val) c.2120A>T (p.Asp707Val) c.1709A>T (p.Asp570Val) c.1862A>T (p.Asp621Val) n.2253A>T n.2577A>T n.2220A>T | |
19 | g.11123277C>A | CA404095278 | LDLR | c.2502C>A (p.Asp834Glu) c.*313C>A (n.*313C>A) c.2124C>A (p.Asp708Glu) c.2244C>A (p.Asp748Glu) c.2498C>A c.1740C>A (p.Asp580Glu) c.2121C>A (p.Asp707Glu) c.1710C>A (p.Asp570Glu) c.1863C>A (p.Asp621Glu) n.2254C>A n.2578C>A n.2221C>A | |
19 | g.11123277C>G | CA404095282 | LDLR | c.2502C>G (p.Asp834Glu) c.*313C>G (n.*313C>G) c.2124C>G (p.Asp708Glu) c.2244C>G (p.Asp748Glu) c.2498C>G c.1740C>G (p.Asp580Glu) c.2121C>G (p.Asp707Glu) c.1710C>G (p.Asp570Glu) c.1863C>G (p.Asp621Glu) n.2254C>G n.2578C>G n.2221C>G | |
19 | g.11123277C>T | CA505486987 | LDLR | c.2502C>T (p.Asp834=) c.*313C>T (n.*313C>T) c.2124C>T (p.Asp708=) c.2244C>T (p.Asp748=) c.2498C>T c.1740C>T (p.Asp580=) c.2121C>T (p.Asp707=) c.1710C>T (p.Asp570=) c.1863C>T (p.Asp621=) n.2254C>T n.2578C>T n.2221C>T | ClinVar gnomAD v4 |
19 | g.11123278A>C | CA404095289 | LDLR | c.2503A>C (p.Thr835Pro) c.*314A>C (n.*314A>C) c.2125A>C (p.Thr709Pro) c.2245A>C (p.Thr749Pro) c.2499A>C c.1741A>C (p.Thr581Pro) c.2122A>C (p.Thr708Pro) c.1711A>C (p.Thr571Pro) c.1864A>C (p.Thr622Pro) n.2255A>C n.2579A>C n.2222A>C | |
19 | g.11123278A>G | CA404095293 | LDLR | c.2503A>G (p.Thr835Ala) c.*314A>G (n.*314A>G) c.2125A>G (p.Thr709Ala) c.2245A>G (p.Thr749Ala) c.2499A>G c.1741A>G (p.Thr581Ala) c.2122A>G (p.Thr708Ala) c.1711A>G (p.Thr571Ala) c.1864A>G (p.Thr622Ala) n.2255A>G n.2579A>G n.2222A>G | |
19 | g.11123278A>T | CA404095295 | LDLR | c.2503A>T (p.Thr835Ser) c.*314A>T (n.*314A>T) c.2125A>T (p.Thr709Ser) c.2245A>T (p.Thr749Ser) c.2499A>T c.1741A>T (p.Thr581Ser) c.2122A>T (p.Thr708Ser) c.1711A>T (p.Thr571Ser) c.1864A>T (p.Thr622Ser) n.2255A>T n.2579A>T n.2222A>T | |
19 | g.11123279C>A | CA404095300 | LDLR | c.2504C>A (p.Thr835Asn) c.*315C>A (n.*315C>A) c.2126C>A (p.Thr709Asn) c.2246C>A (p.Thr749Asn) c.2500C>A c.1742C>A (p.Thr581Asn) c.2123C>A (p.Thr708Asn) c.1712C>A (p.Thr571Asn) c.1865C>A (p.Thr622Asn) n.2256C>A n.2580C>A n.2223C>A | dbSNP |
19 | g.11123279C= | CA2322777230 | LDLR | c.2504C= (p.Thr835=) c.*315C= (n.*315C=) c.2126C= (p.Thr709=) c.2246C= (p.Thr749=) c.2500C= c.1742C= (p.Thr581=) c.2123C= (p.Thr708=) c.1712C= (p.Thr571=) c.1865C= (p.Thr622=) n.2256C= n.2580C= n.2223C= | |
19 | g.11123279C>G | CA404095304 | LDLR | c.2504C>G (p.Thr835Ser) c.*315C>G (n.*315C>G) c.2126C>G (p.Thr709Ser) c.2246C>G (p.Thr749Ser) c.2500C>G c.1742C>G (p.Thr581Ser) c.2123C>G (p.Thr708Ser) c.1712C>G (p.Thr571Ser) c.1865C>G (p.Thr622Ser) n.2256C>G n.2580C>G n.2223C>G | |
19 | g.11123279C>T | CA404095307 | LDLR | c.2504C>T (p.Thr835Ile) c.*315C>T (n.*315C>T) c.2126C>T (p.Thr709Ile) c.2246C>T (p.Thr749Ile) c.2500C>T c.1742C>T (p.Thr581Ile) c.2123C>T (p.Thr708Ile) c.1712C>T (p.Thr571Ile) c.1865C>T (p.Thr622Ile) n.2256C>T n.2580C>T n.2223C>T | gnomAD v4 |
19 | g.11123280C>A | CA505486989 | LDLR | c.2505C>A (p.Thr835=) c.*316C>A (n.*316C>A) c.2127C>A (p.Thr709=) c.2247C>A (p.Thr749=) c.2501C>A c.1743C>A (p.Thr581=) c.2124C>A (p.Thr708=) c.1713C>A (p.Thr571=) c.1866C>A (p.Thr622=) n.2257C>A n.2581C>A n.2224C>A | |
19 | g.11123280C= | CA2322777231 | LDLR | c.2505C= (p.Thr835=) c.*316C= (n.*316C=) c.2127C= (p.Thr709=) c.2247C= (p.Thr749=) c.2501C= c.1743C= (p.Thr581=) c.2124C= (p.Thr708=) c.1713C= (p.Thr571=) c.1866C= (p.Thr622=) n.2257C= n.2581C= n.2224C= | |
19 | g.11123280C>G | CA505486991 | LDLR | c.2505C>G (p.Thr835=) c.*316C>G (n.*316C>G) c.2127C>G (p.Thr709=) c.2247C>G (p.Thr749=) c.2501C>G c.1743C>G (p.Thr581=) c.2124C>G (p.Thr708=) c.1713C>G (p.Thr571=) c.1866C>G (p.Thr622=) n.2257C>G n.2581C>G n.2224C>G | ClinVar dbSNP |
19 | g.11123280C>T | CA505486993 | LDLR | c.2505C>T (p.Thr835=) c.*316C>T (n.*316C>T) c.2127C>T (p.Thr709=) c.2247C>T (p.Thr749=) c.2501C>T c.1743C>T (p.Thr581=) c.2124C>T (p.Thr708=) c.1713C>T (p.Thr571=) c.1866C>T (p.Thr622=) n.2257C>T n.2581C>T n.2224C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11123281T>A | CA404095312 | LDLR | c.2506T>A (p.Ser836Thr) c.*317T>A (n.*317T>A) c.2128T>A (p.Ser710Thr) c.2248T>A (p.Ser750Thr) c.2502T>A c.1744T>A (p.Ser582Thr) c.2125T>A (p.Ser709Thr) c.1714T>A (p.Ser572Thr) c.1867T>A (p.Ser623Thr) n.2258T>A n.2582T>A n.2225T>A | gnomAD v4 |
19 | g.11123281T>C | CA404095326 | LDLR | c.2506T>C (p.Ser836Pro) c.*317T>C (n.*317T>C) c.2128T>C (p.Ser710Pro) c.2248T>C (p.Ser750Pro) c.2502T>C c.1744T>C (p.Ser582Pro) c.2125T>C (p.Ser709Pro) c.1714T>C (p.Ser572Pro) c.1867T>C (p.Ser623Pro) n.2258T>C n.2582T>C n.2225T>C | |
19 | g.11123281T>G | CA404095323 | LDLR | c.2506T>G (p.Ser836Ala) c.*317T>G (n.*317T>G) c.2128T>G (p.Ser710Ala) c.2248T>G (p.Ser750Ala) c.2502T>G c.1744T>G (p.Ser582Ala) c.2125T>G (p.Ser709Ala) c.1714T>G (p.Ser572Ala) c.1867T>G (p.Ser623Ala) n.2258T>G n.2582T>G n.2225T>G | |
19 | g.11123281_11123282delinsTC | CA2322777232 | LDLR | c.2506_2507delinsTC (p.Ser836=) c.*317_*318delinsTC (n.*317_*318delinsTC) c.2128_2129delinsTC (p.Ser710=) c.2248_2249delinsTC (p.Ser750=) c.2502_2503delinsTC c.1744_1745delinsTC (p.Ser582=) c.2125_2126delinsTC (p.Ser709=) c.1714_1715delinsTC (p.Ser572=) c.1867_1868delinsTC (p.Ser623=) n.2258_2259delinsTC n.2582_2583delinsTC n.2225_2226delinsTC | |
19 | g.11123282C>A | CA404095330 | LDLR | c.2507C>A (p.Ser836Tyr) c.*318C>A (n.*318C>A) c.2129C>A (p.Ser710Tyr) c.2249C>A (p.Ser750Tyr) c.2503C>A c.1745C>A (p.Ser582Tyr) c.2126C>A (p.Ser709Tyr) c.1715C>A (p.Ser572Tyr) c.1868C>A (p.Ser623Tyr) n.2259C>A n.2583C>A n.2226C>A | |
19 | g.11123282C= | CA2322777233 | LDLR | c.2507C= (p.Ser836=) c.*318C= (n.*318C=) c.2129C= (p.Ser710=) c.2249C= (p.Ser750=) c.2503C= c.1745C= (p.Ser582=) c.2126C= (p.Ser709=) c.1715C= (p.Ser572=) c.1868C= (p.Ser623=) n.2259C= n.2583C= n.2226C= | |
19 | g.11123282C>G | CA404095334 | LDLR | c.2507C>G (p.Ser836Cys) c.*318C>G (n.*318C>G) c.2129C>G (p.Ser710Cys) c.2249C>G (p.Ser750Cys) c.2503C>G c.1745C>G (p.Ser582Cys) c.2126C>G (p.Ser709Cys) c.1715C>G (p.Ser572Cys) c.1868C>G (p.Ser623Cys) n.2259C>G n.2583C>G n.2226C>G | |
19 | g.11123282C>T | CA404095337 | LDLR | c.2507C>T (p.Ser836Phe) c.*318C>T (n.*318C>T) c.2129C>T (p.Ser710Phe) c.2249C>T (p.Ser750Phe) c.2503C>T c.1745C>T (p.Ser582Phe) c.2126C>T (p.Ser709Phe) c.1715C>T (p.Ser572Phe) c.1868C>T (p.Ser623Phe) n.2259C>T n.2583C>T n.2226C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11123284del | CA645509294 | LDLR | c.2509del (p.Arg837GlyfsTer14) c.*320del (n.*320del) c.2131del (p.Arg711GlyfsTer14) c.2251del (p.Arg751GlyfsTer14) c.2505del c.1747del (p.Arg583GlyfsTer14) c.2128del (p.Arg710GlyfsTer14) c.1717del (p.Arg573GlyfsTer14) c.1870del (p.Arg624GlyfsTer14) n.2261del n.2585del n.2228del | ClinVar dbSNP |
19 | g.11123283C>A | CA505486997 | LDLR | c.2508C>A (p.Ser836=) c.*319C>A (n.*319C>A) c.2130C>A (p.Ser710=) c.2250C>A (p.Ser750=) c.2504C>A c.1746C>A (p.Ser582=) c.2127C>A (p.Ser709=) c.1716C>A (p.Ser572=) c.1869C>A (p.Ser623=) n.2260C>A n.2584C>A n.2227C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123283C= | CA2322777234 | LDLR | c.2508C= (p.Ser836=) c.*319C= (n.*319C=) c.2130C= (p.Ser710=) c.2250C= (p.Ser750=) c.2504C= c.1746C= (p.Ser582=) c.2127C= (p.Ser709=) c.1716C= (p.Ser572=) c.1869C= (p.Ser623=) n.2260C= n.2584C= n.2227C= | |
19 | g.11123283C>G | CA505486998 | LDLR | c.2508C>G (p.Ser836=) c.*319C>G (n.*319C>G) c.2130C>G (p.Ser710=) c.2250C>G (p.Ser750=) c.2504C>G c.1746C>G (p.Ser582=) c.2127C>G (p.Ser709=) c.1716C>G (p.Ser572=) c.1869C>G (p.Ser623=) n.2260C>G n.2584C>G n.2227C>G | |
19 | g.11123283C>T | CA505486999 | LDLR | c.2508C>T (p.Ser836=) c.*319C>T (n.*319C>T) c.2130C>T (p.Ser710=) c.2250C>T (p.Ser750=) c.2504C>T c.1746C>T (p.Ser582=) c.2127C>T (p.Ser709=) c.1716C>T (p.Ser572=) c.1869C>T (p.Ser623=) n.2260C>T n.2584C>T n.2227C>T | ClinVar dbSNP |
19 | g.11123284C>A | CA505487001 | LDLR | c.2509C>A (p.Arg837=) c.*320C>A (n.*320C>A) c.2131C>A (p.Arg711=) c.2251C>A (p.Arg751=) c.2505C>A c.1747C>A (p.Arg583=) c.2128C>A (p.Arg710=) c.1717C>A (p.Arg573=) c.1870C>A (p.Arg624=) n.2261C>A n.2585C>A n.2228C>A | COSMIC |
19 | g.11123284C= | CA2322777235 | LDLR | c.2509C= (p.Arg837=) c.*320C= (n.*320C=) c.2131C= (p.Arg711=) c.2251C= (p.Arg751=) c.2505C= c.1747C= (p.Arg583=) c.2128C= (p.Arg710=) c.1717C= (p.Arg573=) c.1870C= (p.Arg624=) n.2261C= n.2585C= n.2228C= | |
19 | g.11123284C>G | CA404095339 | LDLR | c.2509C>G (p.Arg837Gly) c.*320C>G (n.*320C>G) c.2131C>G (p.Arg711Gly) c.2251C>G (p.Arg751Gly) c.2505C>G c.1747C>G (p.Arg583Gly) c.2128C>G (p.Arg710Gly) c.1717C>G (p.Arg573Gly) c.1870C>G (p.Arg624Gly) n.2261C>G n.2585C>G n.2228C>G | |
19 | g.11123284C>T | CA039237 | LDLR | c.2509C>T (p.Arg837Trp) c.*320C>T (n.*320C>T) c.2131C>T (p.Arg711Trp) c.2251C>T (p.Arg751Trp) c.2505C>T c.1747C>T (p.Arg583Trp) c.2128C>T (p.Arg710Trp) c.1717C>T (p.Arg573Trp) c.1870C>T (p.Arg624Trp) n.2261C>T n.2585C>T n.2228C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123285G>A | CA023654 | LDLR | c.2510G>A (p.Arg837Gln) c.*321G>A (n.*321G>A) c.2132G>A (p.Arg711Gln) c.2252G>A (p.Arg751Gln) c.2506G>A c.1748G>A (p.Arg583Gln) c.2129G>A (p.Arg710Gln) c.1718G>A (p.Arg573Gln) c.1871G>A (p.Arg624Gln) n.2262G>A n.2586G>A n.2229G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123285G>C | CA404095348 | LDLR | c.2510G>C (p.Arg837Pro) c.*321G>C (n.*321G>C) c.2132G>C (p.Arg711Pro) c.2252G>C (p.Arg751Pro) c.2506G>C c.1748G>C (p.Arg583Pro) c.2129G>C (p.Arg710Pro) c.1718G>C (p.Arg573Pro) c.1871G>C (p.Arg624Pro) n.2262G>C n.2586G>C n.2229G>C | |
19 | g.11123285G= | CA2322777236 | LDLR | c.2510G= (p.Arg837=) c.*321G= (n.*321G=) c.2132G= (p.Arg711=) c.2252G= (p.Arg751=) c.2506G= c.1748G= (p.Arg583=) c.2129G= (p.Arg710=) c.1718G= (p.Arg573=) c.1871G= (p.Arg624=) n.2262G= n.2586G= n.2229G= | |
19 | g.11123285G>T | CA404095352 | LDLR | c.2510G>T (p.Arg837Leu) c.*321G>T (n.*321G>T) c.2132G>T (p.Arg711Leu) c.2252G>T (p.Arg751Leu) c.2506G>T c.1748G>T (p.Arg583Leu) c.2129G>T (p.Arg710Leu) c.1718G>T (p.Arg573Leu) c.1871G>T (p.Arg624Leu) n.2262G>T n.2586G>T n.2229G>T | |
19 | g.11123286_11123289dup | CA16609821 | LDLR | c.2511_2514dup (p.Pro839AlafsTer30) c.*322_*325dup (n.*322_*325dup) c.2133_2136dup (p.Pro713AlafsTer30) c.2253_2256dup (p.Pro753AlafsTer30) c.2507_2510dup c.1749_1752dup (p.Pro585AlafsTer30) c.2130_2133dup (p.Pro712AlafsTer30) c.1719_1722dup (p.Pro575AlafsTer30) c.2253_2256dup (p.Pro753AlafsTer?) c.1872_1875dup (p.Pro626AlafsTer30) n.2263_2266dup n.2587_2590dup n.2230_2233dup | ClinVar dbSNP |
19 | g.11123286G>A | CA505487006 | LDLR | c.2511G>A (p.Arg837=) c.*322G>A (n.*322G>A) c.2133G>A (p.Arg711=) c.2253G>A (p.Arg751=) c.2507G>A c.1749G>A (p.Arg583=) c.2130G>A (p.Arg710=) c.1719G>A (p.Arg573=) c.1872G>A (p.Arg624=) n.2263G>A n.2587G>A n.2230G>A | ClinVar dbSNP |
19 | g.11123286G>C | CA505487007 | LDLR | c.2511G>C (p.Arg837=) c.*322G>C (n.*322G>C) c.2133G>C (p.Arg711=) c.2253G>C (p.Arg751=) c.2507G>C c.1749G>C (p.Arg583=) c.2130G>C (p.Arg710=) c.1719G>C (p.Arg573=) c.1872G>C (p.Arg624=) n.2263G>C n.2587G>C n.2230G>C | |
19 | g.11123286G= | CA2322777237 | LDLR | c.2511G= (p.Arg837=) c.*322G= (n.*322G=) c.2133G= (p.Arg711=) c.2253G= (p.Arg751=) c.2507G= c.1749G= (p.Arg583=) c.2130G= (p.Arg710=) c.1719G= (p.Arg573=) c.1872G= (p.Arg624=) n.2263G= n.2587G= n.2230G= | |
19 | g.11123286G>T | CA505487010 | LDLR | c.2511G>T (p.Arg837=) c.*322G>T (n.*322G>T) c.2133G>T (p.Arg711=) c.2253G>T (p.Arg751=) c.2507G>T c.1749G>T (p.Arg583=) c.2130G>T (p.Arg710=) c.1719G>T (p.Arg573=) c.1872G>T (p.Arg624=) n.2263G>T n.2587G>T n.2230G>T | ClinVar |
19 | g.11123287C>A | CA404095356 | LDLR | c.2512C>A (p.Leu838Met) c.*323C>A (n.*323C>A) c.2134C>A (p.Leu712Met) c.2254C>A (p.Leu752Met) c.2508C>A c.1750C>A (p.Leu584Met) c.2131C>A (p.Leu711Met) c.1720C>A (p.Leu574Met) c.1873C>A (p.Leu625Met) n.2264C>A n.2588C>A n.2231C>A | |
19 | g.11123287C>G | CA404095359 | LDLR | c.2512C>G (p.Leu838Val) c.*323C>G (n.*323C>G) c.2134C>G (p.Leu712Val) c.2254C>G (p.Leu752Val) c.2508C>G c.1750C>G (p.Leu584Val) c.2131C>G (p.Leu711Val) c.1720C>G (p.Leu574Val) c.1873C>G (p.Leu625Val) n.2264C>G n.2588C>G n.2231C>G | |
19 | g.11123287C>T | CA505487016 | LDLR | c.2512C>T (p.Leu838=) c.*323C>T (n.*323C>T) c.2134C>T (p.Leu712=) c.2254C>T (p.Leu752=) c.2508C>T c.1750C>T (p.Leu584=) c.2131C>T (p.Leu711=) c.1720C>T (p.Leu574=) c.1873C>T (p.Leu625=) n.2264C>T n.2588C>T n.2231C>T | |
19 | g.11123288T>A | CA404095387 | LDLR | c.2513T>A (p.Leu838Gln) c.*324T>A (n.*324T>A) c.2135T>A (p.Leu712Gln) c.2255T>A (p.Leu752Gln) c.2509T>A c.1751T>A (p.Leu584Gln) c.2132T>A (p.Leu711Gln) c.1721T>A (p.Leu574Gln) c.1874T>A (p.Leu625Gln) n.2265T>A n.2589T>A n.2232T>A | |
19 | g.11123288T>C | CA404095383 | LDLR | c.2513T>C (p.Leu838Pro) c.*324T>C (n.*324T>C) c.2135T>C (p.Leu712Pro) c.2255T>C (p.Leu752Pro) c.2509T>C c.1751T>C (p.Leu584Pro) c.2132T>C (p.Leu711Pro) c.1721T>C (p.Leu574Pro) c.1874T>C (p.Leu625Pro) n.2265T>C n.2589T>C n.2232T>C | |
19 | g.11123288T>G | CA404095374 | LDLR | c.2513T>G (p.Leu838Arg) c.*324T>G (n.*324T>G) c.2135T>G (p.Leu712Arg) c.2255T>G (p.Leu752Arg) c.2509T>G c.1751T>G (p.Leu584Arg) c.2132T>G (p.Leu711Arg) c.1721T>G (p.Leu574Arg) c.1874T>G (p.Leu625Arg) n.2265T>G n.2589T>G n.2232T>G | |
19 | g.11123289G>A | CA505487017 | LDLR | c.2514G>A (p.Leu838=) c.*325G>A (n.*325G>A) c.2136G>A (p.Leu712=) c.2256G>A (p.Leu752=) c.2510G>A c.1752G>A (p.Leu584=) c.2133G>A (p.Leu711=) c.1722G>A (p.Leu574=) c.1875G>A (p.Leu625=) n.2266G>A n.2590G>A n.2233G>A | |
19 | g.11123289G>C | CA505487018 | LDLR | c.2514G>C (p.Leu838=) c.*325G>C (n.*325G>C) c.2136G>C (p.Leu712=) c.2256G>C (p.Leu752=) c.2510G>C c.1752G>C (p.Leu584=) c.2133G>C (p.Leu711=) c.1722G>C (p.Leu574=) c.1875G>C (p.Leu625=) n.2266G>C n.2590G>C n.2233G>C | |
19 | g.11123289G>T | CA505487019 | LDLR | c.2514G>T (p.Leu838=) c.*325G>T (n.*325G>T) c.2136G>T (p.Leu712=) c.2256G>T (p.Leu752=) c.2510G>T c.1752G>T (p.Leu584=) c.2133G>T (p.Leu711=) c.1722G>T (p.Leu574=) c.1875G>T (p.Leu625=) n.2266G>T n.2590G>T n.2233G>T | |
19 | g.11123289dup | CA2497030105 | LDLR | c.2514dup (p.Pro839AlafsTer29) c.*325dup (n.*325dup) c.2136dup (p.Pro713AlafsTer29) c.2256dup (p.Pro753AlafsTer29) c.2510dup c.1752dup (p.Pro585AlafsTer29) c.2133dup (p.Pro712AlafsTer29) c.1722dup (p.Pro575AlafsTer29) c.2256dup (p.Pro753AlafsTer?) c.1875dup (p.Pro626AlafsTer29) n.2266dup n.2590dup n.2233dup | |
19 | g.11123290C>A | CA404095394 | LDLR | c.2515C>A (p.Pro839Thr) c.*326C>A (n.*326C>A) c.2137C>A (p.Pro713Thr) c.2257C>A (p.Pro753Thr) c.2511C>A c.1753C>A (p.Pro585Thr) c.2134C>A (p.Pro712Thr) c.1723C>A (p.Pro575Thr) c.1876C>A (p.Pro626Thr) n.2267C>A n.2591C>A n.2234C>A | |
19 | g.11123290C>G | CA404095396 | LDLR | c.2515C>G (p.Pro839Ala) c.*326C>G (n.*326C>G) c.2137C>G (p.Pro713Ala) c.2257C>G (p.Pro753Ala) c.2511C>G c.1753C>G (p.Pro585Ala) c.2134C>G (p.Pro712Ala) c.1723C>G (p.Pro575Ala) c.1876C>G (p.Pro626Ala) n.2267C>G n.2591C>G n.2234C>G | gnomAD v4 |
19 | g.11123290C>T | CA404095405 | LDLR | c.2515C>T (p.Pro839Ser) c.*326C>T (n.*326C>T) c.2137C>T (p.Pro713Ser) c.2257C>T (p.Pro753Ser) c.2511C>T c.1753C>T (p.Pro585Ser) c.2134C>T (p.Pro712Ser) c.1723C>T (p.Pro575Ser) c.1876C>T (p.Pro626Ser) n.2267C>T n.2591C>T n.2234C>T | gnomAD v4 |
19 | g.11123291del | CA2695238657 | LDLR | c.2516del (p.Pro839LeufsTer12) c.*327del (n.*327del) c.2138del (p.Pro713LeufsTer12) c.2258del (p.Pro753LeufsTer12) c.2512del c.1754del (p.Pro585LeufsTer12) c.2135del (p.Pro712LeufsTer12) c.1724del (p.Pro575LeufsTer12) c.1877del (p.Pro626LeufsTer12) n.2268del n.2592del n.2235del | |
19 | g.11123291C>A | CA404095409 | LDLR | c.2516C>A (p.Pro839His) c.*327C>A (n.*327C>A) c.2138C>A (p.Pro713His) c.2258C>A (p.Pro753His) c.2512C>A c.1754C>A (p.Pro585His) c.2135C>A (p.Pro712His) c.1724C>A (p.Pro575His) c.1877C>A (p.Pro626His) n.2268C>A n.2592C>A n.2235C>A | |
19 | g.11123291C= | CA2322777238 | LDLR | c.2516C= (p.Pro839=) c.*327C= (n.*327C=) c.2138C= (p.Pro713=) c.2258C= (p.Pro753=) c.2512C= c.1754C= (p.Pro585=) c.2135C= (p.Pro712=) c.1724C= (p.Pro575=) c.1877C= (p.Pro626=) n.2268C= n.2592C= n.2235C= | |
19 | g.11123291C>G | CA404095414 | LDLR | c.2516C>G (p.Pro839Arg) c.*327C>G (n.*327C>G) c.2138C>G (p.Pro713Arg) c.2258C>G (p.Pro753Arg) c.2512C>G c.1754C>G (p.Pro585Arg) c.2135C>G (p.Pro712Arg) c.1724C>G (p.Pro575Arg) c.1877C>G (p.Pro626Arg) n.2268C>G n.2592C>G n.2235C>G | |
19 | g.11123291C>T | CA404095418 | LDLR | c.2516C>T (p.Pro839Leu) c.*327C>T (n.*327C>T) c.2138C>T (p.Pro713Leu) c.2258C>T (p.Pro753Leu) c.2512C>T c.1754C>T (p.Pro585Leu) c.2135C>T (p.Pro712Leu) c.1724C>T (p.Pro575Leu) c.1877C>T (p.Pro626Leu) n.2268C>T n.2592C>T n.2235C>T | dbSNP gnomAD v4 |
19 | g.11123292_11123297del | CA2825002703 | LDLR | c.2517_2522del (p.Gly840_Ala841del) c.*328_*333del (n.*328_*333del) c.2139_2144del (p.Gly714_Ala715del) c.2259_2264del (p.Gly754_Ala755del) c.2513_2518del c.1755_1760del (p.Gly586_Ala587del) c.2136_2141del (p.Gly713_Ala714del) c.1725_1730del (p.Gly576_Ala577del) c.1878_1883del (p.Gly627_Ala628del) n.2269_2274del n.2593_2598del n.2236_2241del | ClinVar |
19 | g.11123292_11123310del | CA913189007 | LDLR | c.2517_2535del (p.Gly840ProfsTer5) c.*328_*346del (n.*328_*346del) c.2139_2157del (p.Gly714ProfsTer5) c.2259_2277del (p.Gly754ProfsTer5) c.2513_2531del c.1755_1773del (p.Gly586ProfsTer5) c.2136_2154del (p.Gly713ProfsTer5) c.1725_1743del (p.Gly576ProfsTer5) c.1878_1896del (p.Gly627ProfsTer5) n.2269_2287del n.2593_2611del n.2236_2254del | ClinVar gnomAD v4 |
19 | g.11123292T>A | CA505487023 | LDLR | c.2517T>A (p.Pro839=) c.*328T>A (n.*328T>A) c.2139T>A (p.Pro713=) c.2259T>A (p.Pro753=) c.2513T>A c.1755T>A (p.Pro585=) c.2136T>A (p.Pro712=) c.1725T>A (p.Pro575=) c.1878T>A (p.Pro626=) n.2269T>A n.2593T>A n.2236T>A | |
19 | g.11123292T>C | CA505487024 | LDLR | c.2517T>C (p.Pro839=) c.*328T>C (n.*328T>C) c.2139T>C (p.Pro713=) c.2259T>C (p.Pro753=) c.2513T>C c.1755T>C (p.Pro585=) c.2136T>C (p.Pro712=) c.1725T>C (p.Pro575=) c.1878T>C (p.Pro626=) n.2269T>C n.2593T>C n.2236T>C | |
19 | g.11123292T>G | CA505487028 | LDLR | c.2517T>G (p.Pro839=) c.*328T>G (n.*328T>G) c.2139T>G (p.Pro713=) c.2259T>G (p.Pro753=) c.2513T>G c.1755T>G (p.Pro585=) c.2136T>G (p.Pro712=) c.1725T>G (p.Pro575=) c.1878T>G (p.Pro626=) n.2269T>G n.2593T>G n.2236T>G | |
19 | g.11123292dup | CA645509295 | LDLR | c.2517dup (p.Gly840TrpfsTer28) c.*328dup (n.*328dup) c.2139dup (p.Gly714TrpfsTer28) c.2259dup (p.Gly754TrpfsTer28) c.2513dup c.1755dup (p.Gly586TrpfsTer28) c.2136dup (p.Gly713TrpfsTer28) c.1725dup (p.Gly576TrpfsTer28) c.2259dup (p.Gly754TrpfsTer?) c.1878dup (p.Gly627TrpfsTer28) n.2269dup n.2593dup n.2236dup | ClinVar dbSNP gnomAD v4 |
19 | g.11123292_11123293delinsTG | CA2322777239 | LDLR | c.2517_2518delinsTG (p.Pro839=) c.*328_*329delinsTG (n.*328_*329delinsTG) c.2139_2140delinsTG (p.Pro713=) c.2259_2260delinsTG (p.Pro753=) c.2513_2514delinsTG c.1755_1756delinsTG (p.Pro585=) c.2136_2137delinsTG (p.Pro712=) c.1725_1726delinsTG (p.Pro575=) c.1878_1879delinsTG (p.Pro626=) n.2269_2270delinsTG n.2593_2594delinsTG n.2236_2237delinsTG | |
19 | g.11123293G>A | CA404095424 | LDLR | c.2518G>A (p.Gly840Arg) c.*329G>A (n.*329G>A) c.2140G>A (p.Gly714Arg) c.2260G>A (p.Gly754Arg) c.2514G>A c.1756G>A (p.Gly586Arg) c.2137G>A (p.Gly713Arg) c.1726G>A (p.Gly576Arg) c.1879G>A (p.Gly627Arg) n.2270G>A n.2594G>A n.2237G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123293G>C | CA404095426 | LDLR | c.2518G>C (p.Gly840Arg) c.*329G>C (n.*329G>C) c.2140G>C (p.Gly714Arg) c.2260G>C (p.Gly754Arg) c.2514G>C c.1756G>C (p.Gly586Arg) c.2137G>C (p.Gly713Arg) c.1726G>C (p.Gly576Arg) c.1879G>C (p.Gly627Arg) n.2270G>C n.2594G>C n.2237G>C | |
19 | g.11123293G= | CA2322777240 | LDLR | c.2518G= (p.Gly840=) c.*329G= (n.*329G=) c.2140G= (p.Gly714=) c.2260G= (p.Gly754=) c.2514G= c.1756G= (p.Gly586=) c.2137G= (p.Gly713=) c.1726G= (p.Gly576=) c.1879G= (p.Gly627=) n.2270G= n.2594G= n.2237G= | |
19 | g.11123293G>T | CA039272 | LDLR | c.2518G>T (p.Gly840Trp) c.*329G>T (n.*329G>T) c.2140G>T (p.Gly714Trp) c.2260G>T (p.Gly754Trp) c.2514G>T c.1756G>T (p.Gly586Trp) c.2137G>T (p.Gly713Trp) c.1726G>T (p.Gly576Trp) c.1879G>T (p.Gly627Trp) n.2270G>T n.2594G>T n.2237G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11123296del | CA645509296 | LDLR | c.2521del (p.Ala841ProfsTer10) c.*332del (n.*332del) c.2143del (p.Ala715ProfsTer10) c.2263del (p.Ala755ProfsTer10) c.2517del c.1759del (p.Ala587ProfsTer10) c.2140del (p.Ala714ProfsTer10) c.1729del (p.Ala577ProfsTer10) c.1882del (p.Ala628ProfsTer10) n.2273del n.2597del n.2240del | ClinVar dbSNP |
19 | g.11123294G>A | CA404095432 | LDLR | c.2519G>A (p.Gly840Glu) c.*330G>A (n.*330G>A) c.2141G>A (p.Gly714Glu) c.2261G>A (p.Gly754Glu) c.2515G>A c.1757G>A (p.Gly586Glu) c.2138G>A (p.Gly713Glu) c.1727G>A (p.Gly576Glu) c.1880G>A (p.Gly627Glu) n.2271G>A n.2595G>A n.2238G>A | |
19 | g.11123294G>C | CA404095437 | LDLR | c.2519G>C (p.Gly840Ala) c.*330G>C (n.*330G>C) c.2141G>C (p.Gly714Ala) c.2261G>C (p.Gly754Ala) c.2515G>C c.1757G>C (p.Gly586Ala) c.2138G>C (p.Gly713Ala) c.1727G>C (p.Gly576Ala) c.1880G>C (p.Gly627Ala) n.2271G>C n.2595G>C n.2238G>C | |
19 | g.11123294G>T | CA404095454 | LDLR | c.2519G>T (p.Gly840Val) c.*330G>T (n.*330G>T) c.2141G>T (p.Gly714Val) c.2261G>T (p.Gly754Val) c.2515G>T c.1757G>T (p.Gly586Val) c.2138G>T (p.Gly713Val) c.1727G>T (p.Gly576Val) c.1880G>T (p.Gly627Val) n.2271G>T n.2595G>T n.2238G>T | gnomAD v4 |
19 | g.11123294_11123304delinsGGGCCACCCCT | CA2322777241 | LDLR | c.2519_2529delinsGGGCCACCCCT (p.Gly840=) c.*330_*340delinsGGGCCACCCCT (n.*330_*340delinsGGGCCACCCCT) c.2141_2151delinsGGGCCACCCCT (p.Gly714=) c.2261_2271delinsGGGCCACCCCT (p.Gly754=) c.2515_2525delinsGGGCCACCCCT c.1757_1767delinsGGGCCACCCCT (p.Gly586=) c.2138_2148delinsGGGCCACCCCT (p.Gly713=) c.1727_1737delinsGGGCCACCCCT (p.Gly576=) c.1880_1890delinsGGGCCACCCCT (p.Gly627=) n.2271_2281delinsGGGCCACCCCT n.2595_2605delinsGGGCCACCCCT n.2238_2248delinsGGGCCACCCCT | |
19 | g.11123295G>A | CA505487033 | LDLR | c.2520G>A (p.Gly840=) c.*331G>A (n.*331G>A) c.2142G>A (p.Gly714=) c.2262G>A (p.Gly754=) c.2516G>A c.1758G>A (p.Gly586=) c.2139G>A (p.Gly713=) c.1728G>A (p.Gly576=) c.1881G>A (p.Gly627=) n.2272G>A n.2596G>A n.2239G>A | |
19 | g.11123295G>C | CA505487035 | LDLR | c.2520G>C (p.Gly840=) c.*331G>C (n.*331G>C) c.2142G>C (p.Gly714=) c.2262G>C (p.Gly754=) c.2516G>C c.1758G>C (p.Gly586=) c.2139G>C (p.Gly713=) c.1728G>C (p.Gly576=) c.1881G>C (p.Gly627=) n.2272G>C n.2596G>C n.2239G>C | ClinVar |
19 | g.11123295G>T | CA505487036 | LDLR | c.2520G>T (p.Gly840=) c.*331G>T (n.*331G>T) c.2142G>T (p.Gly714=) c.2262G>T (p.Gly754=) c.2516G>T c.1758G>T (p.Gly586=) c.2139G>T (p.Gly713=) c.1728G>T (p.Gly576=) c.1881G>T (p.Gly627=) n.2272G>T n.2596G>T n.2239G>T | |
19 | g.11123297_11123306del | CA10585812 | LDLR | c.2522_2531del (p.Ala841GlyfsTer7) c.*333_*342del (n.*333_*342del) c.2144_2153del (p.Ala715GlyfsTer7) c.2264_2273del (p.Ala755GlyfsTer7) c.2518_2527del c.1760_1769del (p.Ala587GlyfsTer7) c.2141_2150del (p.Ala714GlyfsTer7) c.1730_1739del (p.Ala577GlyfsTer7) c.1883_1892del (p.Ala628GlyfsTer7) n.2274_2283del n.2598_2607del n.2241_2250del | ClinVar dbSNP |
19 | g.11123296G>A | CA404095469 | LDLR | c.2521G>A (p.Ala841Thr) c.*332G>A (n.*332G>A) c.2143G>A (p.Ala715Thr) c.2263G>A (p.Ala755Thr) c.2517G>A c.1759G>A (p.Ala587Thr) c.2140G>A (p.Ala714Thr) c.1729G>A (p.Ala577Thr) c.1882G>A (p.Ala628Thr) n.2273G>A n.2597G>A n.2240G>A | |
19 | g.11123296G>C | CA404095464 | LDLR | c.2521G>C (p.Ala841Pro) c.*332G>C (n.*332G>C) c.2143G>C (p.Ala715Pro) c.2263G>C (p.Ala755Pro) c.2517G>C c.1759G>C (p.Ala587Pro) c.2140G>C (p.Ala714Pro) c.1729G>C (p.Ala577Pro) c.1882G>C (p.Ala628Pro) n.2273G>C n.2597G>C n.2240G>C | |
19 | g.11123296G>T | CA404095461 | LDLR | c.2521G>T (p.Ala841Ser) c.*332G>T (n.*332G>T) c.2143G>T (p.Ala715Ser) c.2263G>T (p.Ala755Ser) c.2517G>T c.1759G>T (p.Ala587Ser) c.2140G>T (p.Ala714Ser) c.1729G>T (p.Ala577Ser) c.1882G>T (p.Ala628Ser) n.2273G>T n.2597G>T n.2240G>T | |
19 | g.11123297C>A | CA404095473 | LDLR | c.2522C>A (p.Ala841Asp) c.*333C>A (n.*333C>A) c.2144C>A (p.Ala715Asp) c.2264C>A (p.Ala755Asp) c.2518C>A c.1760C>A (p.Ala587Asp) c.2141C>A (p.Ala714Asp) c.1730C>A (p.Ala577Asp) c.1883C>A (p.Ala628Asp) n.2274C>A n.2598C>A n.2241C>A | |
19 | g.11123297C>G | CA404095477 | LDLR | c.2522C>G (p.Ala841Gly) c.*333C>G (n.*333C>G) c.2144C>G (p.Ala715Gly) c.2264C>G (p.Ala755Gly) c.2518C>G c.1760C>G (p.Ala587Gly) c.2141C>G (p.Ala714Gly) c.1730C>G (p.Ala577Gly) c.1883C>G (p.Ala628Gly) n.2274C>G n.2598C>G n.2241C>G | |
19 | g.11123297C>T | CA404095480 | LDLR | c.2522C>T (p.Ala841Val) c.*333C>T (n.*333C>T) c.2144C>T (p.Ala715Val) c.2264C>T (p.Ala755Val) c.2518C>T c.1760C>T (p.Ala587Val) c.2141C>T (p.Ala714Val) c.1730C>T (p.Ala577Val) c.1883C>T (p.Ala628Val) n.2274C>T n.2598C>T n.2241C>T | |
19 | g.11123298C>A | CA505487043 | LDLR | c.2523C>A (p.Ala841=) c.*334C>A (n.*334C>A) c.2145C>A (p.Ala715=) c.2265C>A (p.Ala755=) c.2519C>A c.1761C>A (p.Ala587=) c.2142C>A (p.Ala714=) c.1731C>A (p.Ala577=) c.1884C>A (p.Ala628=) n.2275C>A n.2599C>A n.2242C>A | |
19 | g.11123298C= | CA2322777242 | LDLR | c.2523C= (p.Ala841=) c.*334C= (n.*334C=) c.2145C= (p.Ala715=) c.2265C= (p.Ala755=) c.2519C= c.1761C= (p.Ala587=) c.2142C= (p.Ala714=) c.1731C= (p.Ala577=) c.1884C= (p.Ala628=) n.2275C= n.2599C= n.2242C= | |
19 | g.11123298C>G | CA505487046 | LDLR | c.2523C>G (p.Ala841=) c.*334C>G (n.*334C>G) c.2145C>G (p.Ala715=) c.2265C>G (p.Ala755=) c.2519C>G c.1761C>G (p.Ala587=) c.2142C>G (p.Ala714=) c.1731C>G (p.Ala577=) c.1884C>G (p.Ala628=) n.2275C>G n.2599C>G n.2242C>G | |
19 | g.11123298C>T | CA039282 | LDLR | c.2523C>T (p.Ala841=) c.*334C>T (n.*334C>T) c.2145C>T (p.Ala715=) c.2265C>T (p.Ala755=) c.2519C>T c.1761C>T (p.Ala587=) c.2142C>T (p.Ala714=) c.1731C>T (p.Ala577=) c.1884C>T (p.Ala628=) n.2275C>T n.2599C>T n.2242C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123298_11123299delinsCA | CA2322777243 | LDLR | c.2523_2524delinsCA (p.Ala841=) c.*334_*335delinsCA (n.*334_*335delinsCA) c.2145_2146delinsCA (p.Ala715=) c.2265_2266delinsCA (p.Ala755=) c.2519_2520delinsCA c.1761_1762delinsCA (p.Ala587=) c.2142_2143delinsCA (p.Ala714=) c.1731_1732delinsCA (p.Ala577=) c.1884_1885delinsCA (p.Ala628=) n.2275_2276delinsCA n.2599_2600delinsCA n.2242_2243delinsCA | |
19 | g.11123299del | CA10585813 | LDLR | c.2524del (p.Thr842ProfsTer9) c.*335del (n.*335del) c.2146del (p.Thr716ProfsTer9) c.2266del (p.Thr756ProfsTer9) c.2520del c.1762del (p.Thr588ProfsTer9) c.2143del (p.Thr715ProfsTer9) c.1732del (p.Thr578ProfsTer9) c.1885del (p.Thr629ProfsTer9) n.2276del n.2600del n.2243del | ClinVar dbSNP |
19 | g.11123299A>C | CA404095497 | LDLR | c.2524A>C (p.Thr842Pro) c.*335A>C (n.*335A>C) c.2146A>C (p.Thr716Pro) c.2266A>C (p.Thr756Pro) c.2520A>C c.1762A>C (p.Thr588Pro) c.2143A>C (p.Thr715Pro) c.1732A>C (p.Thr578Pro) c.1885A>C (p.Thr629Pro) n.2276A>C n.2600A>C n.2243A>C | |
19 | g.11123299A>G | CA404095501 | LDLR | c.2524A>G (p.Thr842Ala) c.*335A>G (n.*335A>G) c.2146A>G (p.Thr716Ala) c.2266A>G (p.Thr756Ala) c.2520A>G c.1762A>G (p.Thr588Ala) c.2143A>G (p.Thr715Ala) c.1732A>G (p.Thr578Ala) c.1885A>G (p.Thr629Ala) n.2276A>G n.2600A>G n.2243A>G | |
19 | g.11123299A>T | CA404095505 | LDLR | c.2524A>T (p.Thr842Ser) c.*335A>T (n.*335A>T) c.2146A>T (p.Thr716Ser) c.2266A>T (p.Thr756Ser) c.2520A>T c.1762A>T (p.Thr588Ser) c.2143A>T (p.Thr715Ser) c.1732A>T (p.Thr578Ser) c.1885A>T (p.Thr629Ser) n.2276A>T n.2600A>T n.2243A>T | |
19 | g.11123299_11123300delinsAC | CA2322777244 | LDLR | c.2524_2525delinsAC (p.Thr842=) c.*335_*336delinsAC (n.*335_*336delinsAC) c.2146_2147delinsAC (p.Thr716=) c.2266_2267delinsAC (p.Thr756=) c.2520_2521delinsAC c.1762_1763delinsAC (p.Thr588=) c.2143_2144delinsAC (p.Thr715=) c.1732_1733delinsAC (p.Thr578=) c.1885_1886delinsAC (p.Thr629=) n.2276_2277delinsAC n.2600_2601delinsAC n.2243_2244delinsAC | |
19 | g.11123300C>A | CA039298 | LDLR | c.2525C>A (p.Thr842Asn) c.*336C>A (n.*336C>A) c.2147C>A (p.Thr716Asn) c.2267C>A (p.Thr756Asn) c.2521C>A c.1763C>A (p.Thr588Asn) c.2144C>A (p.Thr715Asn) c.1733C>A (p.Thr578Asn) c.1886C>A (p.Thr629Asn) n.2277C>A n.2601C>A n.2244C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123300C= | CA2322777245 | LDLR | c.2525C= (p.Thr842=) c.*336C= (n.*336C=) c.2147C= (p.Thr716=) c.2267C= (p.Thr756=) c.2521C= c.1763C= (p.Thr588=) c.2144C= (p.Thr715=) c.1733C= (p.Thr578=) c.1886C= (p.Thr629=) n.2277C= n.2601C= n.2244C= | |
19 | g.11123300C>G | CA404095524 | LDLR | c.2525C>G (p.Thr842Ser) c.*336C>G (n.*336C>G) c.2147C>G (p.Thr716Ser) c.2267C>G (p.Thr756Ser) c.2521C>G c.1763C>G (p.Thr588Ser) c.2144C>G (p.Thr715Ser) c.1733C>G (p.Thr578Ser) c.1886C>G (p.Thr629Ser) n.2277C>G n.2601C>G n.2244C>G | |
19 | g.11123300C>T | CA404095534 | LDLR | c.2525C>T (p.Thr842Ile) c.*336C>T (n.*336C>T) c.2147C>T (p.Thr716Ile) c.2267C>T (p.Thr756Ile) c.2521C>T c.1763C>T (p.Thr588Ile) c.2144C>T (p.Thr715Ile) c.1733C>T (p.Thr578Ile) c.1886C>T (p.Thr629Ile) n.2277C>T n.2601C>T n.2244C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11123303dup | CA2840392049 | LDLR | c.2528dup (p.Gly844TrpfsTer24) c.*339dup (n.*339dup) c.2150dup (p.Gly718TrpfsTer24) c.2270dup (p.Gly758TrpfsTer24) c.2524dup c.1766dup (p.Gly590TrpfsTer24) c.2147dup (p.Gly717TrpfsTer24) c.1736dup (p.Gly580TrpfsTer24) c.2270dup (p.Gly758TrpfsTer?) c.1889dup (p.Gly631TrpfsTer24) n.2280dup n.2604dup n.2247dup | |
19 | g.11123303del | CA645373246 | LDLR | c.2528del (p.Pro843LeufsTer8) c.*339del (n.*339del) c.2150del (p.Pro717LeufsTer8) c.2270del (p.Pro757LeufsTer8) c.2524del c.1766del (p.Pro589LeufsTer8) c.2147del (p.Pro716LeufsTer8) c.1736del (p.Pro579LeufsTer8) c.1889del (p.Pro630LeufsTer8) n.2280del n.2604del n.2247del | ClinVar dbSNP |
19 | g.11123301C>A | CA505487051 | LDLR | c.2526C>A (p.Thr842=) c.*337C>A (n.*337C>A) c.2148C>A (p.Thr716=) c.2268C>A (p.Thr756=) c.2522C>A c.1764C>A (p.Thr588=) c.2145C>A (p.Thr715=) c.1734C>A (p.Thr578=) c.1887C>A (p.Thr629=) n.2278C>A n.2602C>A n.2245C>A | |
19 | g.11123301C= | CA2322777246 | LDLR | c.2526C= (p.Thr842=) c.*337C= (n.*337C=) c.2148C= (p.Thr716=) c.2268C= (p.Thr756=) c.2522C= c.1764C= (p.Thr588=) c.2145C= (p.Thr715=) c.1734C= (p.Thr578=) c.1887C= (p.Thr629=) n.2278C= n.2602C= n.2245C= | |
19 | g.11123301C>G | CA505487052 | LDLR | c.2526C>G (p.Thr842=) c.*337C>G (n.*337C>G) c.2148C>G (p.Thr716=) c.2268C>G (p.Thr756=) c.2522C>G c.1764C>G (p.Thr588=) c.2145C>G (p.Thr715=) c.1734C>G (p.Thr578=) c.1887C>G (p.Thr629=) n.2278C>G n.2602C>G n.2245C>G | |
19 | g.11123301C>T | CA505487053 | LDLR | c.2526C>T (p.Thr842=) c.*337C>T (n.*337C>T) c.2148C>T (p.Thr716=) c.2268C>T (p.Thr756=) c.2522C>T c.1764C>T (p.Thr588=) c.2145C>T (p.Thr715=) c.1734C>T (p.Thr578=) c.1887C>T (p.Thr629=) n.2278C>T n.2602C>T n.2245C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11123302C>A | CA404095549 | LDLR | c.2527C>A (p.Pro843Thr) c.*338C>A (n.*338C>A) c.2149C>A (p.Pro717Thr) c.2269C>A (p.Pro757Thr) c.2523C>A c.1765C>A (p.Pro589Thr) c.2146C>A (p.Pro716Thr) c.1735C>A (p.Pro579Thr) c.1888C>A (p.Pro630Thr) n.2279C>A n.2603C>A n.2246C>A | |
19 | g.11123302C= | CA2322777247 | LDLR | c.2527C= (p.Pro843=) c.*338C= (n.*338C=) c.2149C= (p.Pro717=) c.2269C= (p.Pro757=) c.2523C= c.1765C= (p.Pro589=) c.2146C= (p.Pro716=) c.1735C= (p.Pro579=) c.1888C= (p.Pro630=) n.2279C= n.2603C= n.2246C= | |
19 | g.11123302C>G | CA404095547 | LDLR | c.2527C>G (p.Pro843Ala) c.*338C>G (n.*338C>G) c.2149C>G (p.Pro717Ala) c.2269C>G (p.Pro757Ala) c.2523C>G c.1765C>G (p.Pro589Ala) c.2146C>G (p.Pro716Ala) c.1735C>G (p.Pro579Ala) c.1888C>G (p.Pro630Ala) n.2279C>G n.2603C>G n.2246C>G | ClinVar dbSNP |
19 | g.11123302C>T | CA404095537 | LDLR | c.2527C>T (p.Pro843Ser) c.*338C>T (n.*338C>T) c.2149C>T (p.Pro717Ser) c.2269C>T (p.Pro757Ser) c.2523C>T c.1765C>T (p.Pro589Ser) c.2146C>T (p.Pro716Ser) c.1735C>T (p.Pro579Ser) c.1888C>T (p.Pro630Ser) n.2279C>T n.2603C>T n.2246C>T | gnomAD v4 |
19 | g.11123303C>A | CA404095553 | LDLR | c.2528C>A (p.Pro843His) c.*339C>A (n.*339C>A) c.2150C>A (p.Pro717His) c.2270C>A (p.Pro757His) c.2524C>A c.1766C>A (p.Pro589His) c.2147C>A (p.Pro716His) c.1736C>A (p.Pro579His) c.1889C>A (p.Pro630His) n.2280C>A n.2604C>A n.2247C>A | |
19 | g.11123303C>G | CA404095556 | LDLR | c.2528C>G (p.Pro843Arg) c.*339C>G (n.*339C>G) c.2150C>G (p.Pro717Arg) c.2270C>G (p.Pro757Arg) c.2524C>G c.1766C>G (p.Pro589Arg) c.2147C>G (p.Pro716Arg) c.1736C>G (p.Pro579Arg) c.1889C>G (p.Pro630Arg) n.2280C>G n.2604C>G n.2247C>G | gnomAD v4 |
19 | g.11123303C>T | CA404095554 | LDLR | c.2528C>T (p.Pro843Leu) c.*339C>T (n.*339C>T) c.2150C>T (p.Pro717Leu) c.2270C>T (p.Pro757Leu) c.2524C>T c.1766C>T (p.Pro589Leu) c.2147C>T (p.Pro716Leu) c.1736C>T (p.Pro579Leu) c.1889C>T (p.Pro630Leu) n.2280C>T n.2604C>T n.2247C>T | |
19 | g.11123303_11123304delinsCT | CA2322777248 | LDLR | c.2528_2529delinsCT (p.Pro843=) c.*339_*340delinsCT (n.*339_*340delinsCT) c.2150_2151delinsCT (p.Pro717=) c.2270_2271delinsCT (p.Pro757=) c.2524_2525delinsCT c.1766_1767delinsCT (p.Pro589=) c.2147_2148delinsCT (p.Pro716=) c.1736_1737delinsCT (p.Pro579=) c.1889_1890delinsCT (p.Pro630=) n.2280_2281delinsCT n.2604_2605delinsCT n.2247_2248delinsCT | |
19 | g.11123304del | CA10576331 | LDLR | c.2529del (p.Leu845SerfsTer6) c.*340del (n.*340del) c.2151del (p.Leu719SerfsTer6) c.2271del (p.Leu759SerfsTer6) c.2525del c.1767del (p.Leu591SerfsTer6) c.2148del (p.Leu718SerfsTer6) c.1737del (p.Leu581SerfsTer6) c.1890del (p.Leu632SerfsTer6) n.2281del n.2605del n.2248del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123304T>A | CA505487058 | LDLR | c.2529T>A (p.Pro843=) c.*340T>A (n.*340T>A) c.2151T>A (p.Pro717=) c.2271T>A (p.Pro757=) c.2525T>A c.1767T>A (p.Pro589=) c.2148T>A (p.Pro716=) c.1737T>A (p.Pro579=) c.1890T>A (p.Pro630=) n.2281T>A n.2605T>A n.2248T>A | gnomAD v4 |
19 | g.11123304T>C | CA505487059 | LDLR | c.2529T>C (p.Pro843=) c.*340T>C (n.*340T>C) c.2151T>C (p.Pro717=) c.2271T>C (p.Pro757=) c.2525T>C c.1767T>C (p.Pro589=) c.2148T>C (p.Pro716=) c.1737T>C (p.Pro579=) c.1890T>C (p.Pro630=) n.2281T>C n.2605T>C n.2248T>C | |
19 | g.11123304T>G | CA505487060 | LDLR | c.2529T>G (p.Pro843=) c.*340T>G (n.*340T>G) c.2151T>G (p.Pro717=) c.2271T>G (p.Pro757=) c.2525T>G c.1767T>G (p.Pro589=) c.2148T>G (p.Pro716=) c.1737T>G (p.Pro579=) c.1890T>G (p.Pro630=) n.2281T>G n.2605T>G n.2248T>G | |
19 | g.11123304_11123305delinsTG | CA2322777249 | LDLR | c.2529_2530delinsTG (p.Pro843=) c.*340_*341delinsTG (n.*340_*341delinsTG) c.2151_2152delinsTG (p.Pro717=) c.2271_2272delinsTG (p.Pro757=) c.2525_2526delinsTG c.1767_1768delinsTG (p.Pro589=) c.2148_2149delinsTG (p.Pro716=) c.1737_1738delinsTG (p.Pro579=) c.1890_1891delinsTG (p.Pro630=) n.2281_2282delinsTG n.2605_2606delinsTG n.2248_2249delinsTG | |
19 | g.11123305G>A | CA404095585 | LDLR | c.2530G>A (p.Gly844Arg) c.*341G>A (n.*341G>A) c.2152G>A (p.Gly718Arg) c.2272G>A (p.Gly758Arg) c.2526G>A c.1768G>A (p.Gly590Arg) c.2149G>A (p.Gly717Arg) c.1738G>A (p.Gly580Arg) c.1891G>A (p.Gly631Arg) n.2282G>A n.2606G>A n.2249G>A | |
19 | g.11123305G>C | CA404095571 | LDLR | c.2530G>C (p.Gly844Arg) c.*341G>C (n.*341G>C) c.2152G>C (p.Gly718Arg) c.2272G>C (p.Gly758Arg) c.2526G>C c.1768G>C (p.Gly590Arg) c.2149G>C (p.Gly717Arg) c.1738G>C (p.Gly580Arg) c.1891G>C (p.Gly631Arg) n.2282G>C n.2606G>C n.2249G>C | |
19 | g.11123305G>T | CA404095583 | LDLR | c.2530G>T (p.Gly844Trp) c.*341G>T (n.*341G>T) c.2152G>T (p.Gly718Trp) c.2272G>T (p.Gly758Trp) c.2526G>T c.1768G>T (p.Gly590Trp) c.2149G>T (p.Gly717Trp) c.1738G>T (p.Gly580Trp) c.1891G>T (p.Gly631Trp) n.2282G>T n.2606G>T n.2249G>T | |
19 | g.11123307del | CA645509297 | LDLR | c.2532del (p.Leu845SerfsTer6) c.*343del (n.*343del) c.2154del (p.Leu719SerfsTer6) c.2274del (p.Leu759SerfsTer6) c.2528del c.1770del (p.Leu591SerfsTer6) c.2151del (p.Leu718SerfsTer6) c.1740del (p.Leu581SerfsTer6) c.1893del (p.Leu632SerfsTer6) n.2284del n.2608del n.2251del | ClinVar dbSNP |
19 | g.11123306G>A | CA404095589 | LDLR | c.2531G>A (p.Gly844Glu) c.*342G>A (n.*342G>A) c.2153G>A (p.Gly718Glu) c.2273G>A (p.Gly758Glu) c.2527G>A c.1769G>A (p.Gly590Glu) c.2150G>A (p.Gly717Glu) c.1739G>A (p.Gly580Glu) c.1892G>A (p.Gly631Glu) n.2283G>A n.2607G>A n.2250G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11123306G>C | CA039308 | LDLR | c.2531G>C (p.Gly844Ala) c.*342G>C (n.*342G>C) c.2153G>C (p.Gly718Ala) c.2273G>C (p.Gly758Ala) c.2527G>C c.1769G>C (p.Gly590Ala) c.2150G>C (p.Gly717Ala) c.1739G>C (p.Gly580Ala) c.1892G>C (p.Gly631Ala) n.2283G>C n.2607G>C n.2250G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123306G= | CA2322777250 | LDLR | c.2531G= (p.Gly844=) c.*342G= (n.*342G=) c.2153G= (p.Gly718=) c.2273G= (p.Gly758=) c.2527G= c.1769G= (p.Gly590=) c.2150G= (p.Gly717=) c.1739G= (p.Gly580=) c.1892G= (p.Gly631=) n.2283G= n.2607G= n.2250G= | |
19 | g.11123306G>T | CA039316 | LDLR | c.2531G>T (p.Gly844Val) c.*342G>T (n.*342G>T) c.2153G>T (p.Gly718Val) c.2273G>T (p.Gly758Val) c.2527G>T c.1769G>T (p.Gly590Val) c.2150G>T (p.Gly717Val) c.1739G>T (p.Gly580Val) c.1892G>T (p.Gly631Val) n.2283G>T n.2607G>T n.2250G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123307G>A | CA505487065 | LDLR | c.2532G>A (p.Gly844=) c.*343G>A (n.*343G>A) c.2154G>A (p.Gly718=) c.2274G>A (p.Gly758=) c.2528G>A c.1770G>A (p.Gly590=) c.2151G>A (p.Gly717=) c.1740G>A (p.Gly580=) c.1893G>A (p.Gly631=) n.2284G>A n.2608G>A n.2251G>A | ClinVar dbSNP |
19 | g.11123307G>C | CA505487067 | LDLR | c.2532G>C (p.Gly844=) c.*343G>C (n.*343G>C) c.2154G>C (p.Gly718=) c.2274G>C (p.Gly758=) c.2528G>C c.1770G>C (p.Gly590=) c.2151G>C (p.Gly717=) c.1740G>C (p.Gly580=) c.1893G>C (p.Gly631=) n.2284G>C n.2608G>C n.2251G>C | |
19 | g.11123307G>T | CA505487069 | LDLR | c.2532G>T (p.Gly844=) c.*343G>T (n.*343G>T) c.2154G>T (p.Gly718=) c.2274G>T (p.Gly758=) c.2528G>T c.1770G>T (p.Gly590=) c.2151G>T (p.Gly717=) c.1740G>T (p.Gly580=) c.1893G>T (p.Gly631=) n.2284G>T n.2608G>T n.2251G>T | |
19 | g.11123307_11123335delinsGCTCACCACGGTGGAGATAGTGACAATGT | CA2322777251 | LDLR | c.2532_2560delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly844=) c.*343_*371delinsGCTCACCACGGTGGAGATAGTGACAATGT (n.*343_*371delinsGCTCACCACGGTGGAGATAGTGACAATGT) c.2154_2182delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly718=) c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly758=) c.2528_2556delinsGCTCACCACGGTGGAGATAGTGACAATGT c.1770_1798delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly590=) c.2151_2179delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly717=) c.1740_1768delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly580=) c.1893_1921delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly631=) n.2284_2312delinsGCTCACCACGGTGGAGATAGTGACAATGT n.2608_2636delinsGCTCACCACGGTGGAGATAGTGACAATGT n.2251_2279delinsGCTCACCACGGTGGAGATAGTGACAATGT | |
19 | g.11123308C>A | CA404095591 | LDLR | c.2533C>A (p.Leu845Ile) c.*344C>A (n.*344C>A) c.2155C>A (p.Leu719Ile) c.2275C>A (p.Leu759Ile) c.2529C>A c.1771C>A (p.Leu591Ile) c.2152C>A (p.Leu718Ile) c.1741C>A (p.Leu581Ile) c.1894C>A (p.Leu632Ile) n.2285C>A n.2609C>A n.2252C>A | |
19 | g.11123308C>G | CA404095593 | LDLR | c.2533C>G (p.Leu845Val) c.*344C>G (n.*344C>G) c.2155C>G (p.Leu719Val) c.2275C>G (p.Leu759Val) c.2529C>G c.1771C>G (p.Leu591Val) c.2152C>G (p.Leu718Val) c.1741C>G (p.Leu581Val) c.1894C>G (p.Leu632Val) n.2285C>G n.2609C>G n.2252C>G | |
19 | g.11123308C>T | CA404095598 | LDLR | c.2533C>T (p.Leu845Phe) c.*344C>T (n.*344C>T) c.2155C>T (p.Leu719Phe) c.2275C>T (p.Leu759Phe) c.2529C>T c.1771C>T (p.Leu591Phe) c.2152C>T (p.Leu718Phe) c.1741C>T (p.Leu581Phe) c.1894C>T (p.Leu632Phe) n.2285C>T n.2609C>T n.2252C>T | |
19 | g.11123315_11123342dup | CA2573156030 | LDLR | c.2540_2567dup (p.Gln856HisfsTer21) c.*351_*378dup (n.*351_*378dup) c.2162_2189dup (p.Gln730HisfsTer21) c.2282_2309dup (p.Gln770HisfsTer21) c.2536_2563dup c.1778_1805dup (p.Gln602HisfsTer21) c.2159_2186dup (p.Gln729HisfsTer21) c.1748_1775dup (p.Gln592HisfsTer21) c.2282_2309dup (p.Gln770HisfsTer30) c.1901_1928dup (p.Gln643HisfsTer21) n.2292_2319dup n.2616_2643dup n.2259_2286dup | ClinVar dbSNP |
19 | g.11123315_11123342del | CA658653855 | LDLR | c.2540_2567del (p.Thr847LysfsTer18) c.*351_*378del (n.*351_*378del) c.2162_2189del (p.Thr721LysfsTer18) c.2282_2309del (p.Thr761LysfsTer18) c.2536_2563del c.1778_1805del (p.Thr593LysfsTer18) c.2159_2186del (p.Thr720LysfsTer18) c.1748_1775del (p.Thr583LysfsTer18) c.2282_2309del (p.Thr761LysfsTer?) c.1901_1928del (p.Thr634LysfsTer18) n.2292_2319del n.2616_2643del n.2259_2286del | ClinVar dbSNP |
19 | g.11123309T>A | CA404095623 | LDLR | c.2534T>A (p.Leu845His) c.*345T>A (n.*345T>A) c.2156T>A (p.Leu719His) c.2276T>A (p.Leu759His) c.2530T>A c.1772T>A (p.Leu591His) c.2153T>A (p.Leu718His) c.1742T>A (p.Leu581His) c.1895T>A (p.Leu632His) n.2286T>A n.2610T>A n.2253T>A | |
19 | g.11123309T>C | CA039330 | LDLR | c.2534T>C (p.Leu845Pro) c.*345T>C (n.*345T>C) c.2156T>C (p.Leu719Pro) c.2276T>C (p.Leu759Pro) c.2530T>C c.1772T>C (p.Leu591Pro) c.2153T>C (p.Leu718Pro) c.1742T>C (p.Leu581Pro) c.1895T>C (p.Leu632Pro) n.2286T>C n.2610T>C n.2253T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123309T>G | CA404095629 | LDLR | c.2534T>G (p.Leu845Arg) c.*345T>G (n.*345T>G) c.2156T>G (p.Leu719Arg) c.2276T>G (p.Leu759Arg) c.2530T>G c.1772T>G (p.Leu591Arg) c.2153T>G (p.Leu718Arg) c.1742T>G (p.Leu581Arg) c.1895T>G (p.Leu632Arg) n.2286T>G n.2610T>G n.2253T>G | |
19 | g.11123309T= | CA2322777252 | LDLR | c.2534T= (p.Leu845=) c.*345T= (n.*345T=) c.2156T= (p.Leu719=) c.2276T= (p.Leu759=) c.2530T= c.1772T= (p.Leu591=) c.2153T= (p.Leu718=) c.1742T= (p.Leu581=) c.1895T= (p.Leu632=) n.2286T= n.2610T= n.2253T= | |
19 | g.11123310C>A | CA505487071 | LDLR | c.2535C>A (p.Leu845=) c.*346C>A (n.*346C>A) c.2157C>A (p.Leu719=) c.2277C>A (p.Leu759=) c.2531C>A c.1773C>A (p.Leu591=) c.2154C>A (p.Leu718=) c.1743C>A (p.Leu581=) c.1896C>A (p.Leu632=) n.2287C>A n.2611C>A n.2254C>A | |
19 | g.11123310C= | CA2322777253 | LDLR | c.2535C= (p.Leu845=) c.*346C= (n.*346C=) c.2157C= (p.Leu719=) c.2277C= (p.Leu759=) c.2531C= c.1773C= (p.Leu591=) c.2154C= (p.Leu718=) c.1743C= (p.Leu581=) c.1896C= (p.Leu632=) n.2287C= n.2611C= n.2254C= | |
19 | g.11123310C>G | CA505487073 | LDLR | c.2535C>G (p.Leu845=) c.*346C>G (n.*346C>G) c.2157C>G (p.Leu719=) c.2277C>G (p.Leu759=) c.2531C>G c.1773C>G (p.Leu591=) c.2154C>G (p.Leu718=) c.1743C>G (p.Leu581=) c.1896C>G (p.Leu632=) n.2287C>G n.2611C>G n.2254C>G | |
19 | g.11123310C>T | CA305305194 | LDLR | c.2535C>T (p.Leu845=) c.*346C>T (n.*346C>T) c.2157C>T (p.Leu719=) c.2277C>T (p.Leu759=) c.2531C>T c.1773C>T (p.Leu591=) c.2154C>T (p.Leu718=) c.1743C>T (p.Leu581=) c.1896C>T (p.Leu632=) n.2287C>T n.2611C>T n.2254C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123311A>C | CA404095638 | LDLR | c.2536A>C (p.Thr846Pro) c.*347A>C (n.*347A>C) c.2158A>C (p.Thr720Pro) c.2278A>C (p.Thr760Pro) c.2532A>C c.1774A>C (p.Thr592Pro) c.2155A>C (p.Thr719Pro) c.1744A>C (p.Thr582Pro) c.1897A>C (p.Thr633Pro) n.2288A>C n.2612A>C n.2255A>C | |
19 | g.11123311A>G | CA404095643 | LDLR | c.2536A>G (p.Thr846Ala) c.*347A>G (n.*347A>G) c.2158A>G (p.Thr720Ala) c.2278A>G (p.Thr760Ala) c.2532A>G c.1774A>G (p.Thr592Ala) c.2155A>G (p.Thr719Ala) c.1744A>G (p.Thr582Ala) c.1897A>G (p.Thr633Ala) n.2288A>G n.2612A>G n.2255A>G | |
19 | g.11123311A>T | CA404095641 | LDLR | c.2536A>T (p.Thr846Ser) c.*347A>T (n.*347A>T) c.2158A>T (p.Thr720Ser) c.2278A>T (p.Thr760Ser) c.2532A>T c.1774A>T (p.Thr592Ser) c.2155A>T (p.Thr719Ser) c.1744A>T (p.Thr582Ser) c.1897A>T (p.Thr633Ser) n.2288A>T n.2612A>T n.2255A>T | |
19 | g.11123312C>A | CA404095647 | LDLR | c.2537C>A (p.Thr846Asn) c.*348C>A (n.*348C>A) c.2159C>A (p.Thr720Asn) c.2279C>A (p.Thr760Asn) c.2533C>A c.1775C>A (p.Thr592Asn) c.2156C>A (p.Thr719Asn) c.1745C>A (p.Thr582Asn) c.1898C>A (p.Thr633Asn) n.2289C>A n.2613C>A n.2256C>A | |
19 | g.11123312C= | CA2322777254 | LDLR | c.2537C= (p.Thr846=) c.*348C= (n.*348C=) c.2159C= (p.Thr720=) c.2279C= (p.Thr760=) c.2533C= c.1775C= (p.Thr592=) c.2156C= (p.Thr719=) c.1745C= (p.Thr582=) c.1898C= (p.Thr633=) n.2289C= n.2613C= n.2256C= | |
19 | g.11123312C>G | CA404095648 | LDLR | c.2537C>G (p.Thr846Ser) c.*348C>G (n.*348C>G) c.2159C>G (p.Thr720Ser) c.2279C>G (p.Thr760Ser) c.2533C>G c.1775C>G (p.Thr592Ser) c.2156C>G (p.Thr719Ser) c.1745C>G (p.Thr582Ser) c.1898C>G (p.Thr633Ser) n.2289C>G n.2613C>G n.2256C>G | gnomAD v4 |
19 | g.11123312C>T | CA404095651 | LDLR | c.2537C>T (p.Thr846Ile) c.*348C>T (n.*348C>T) c.2159C>T (p.Thr720Ile) c.2279C>T (p.Thr760Ile) c.2533C>T c.1775C>T (p.Thr592Ile) c.2156C>T (p.Thr719Ile) c.1745C>T (p.Thr582Ile) c.1898C>T (p.Thr633Ile) n.2289C>T n.2613C>T n.2256C>T | ClinVar dbSNP |
19 | g.11123313C>A | CA505487079 | LDLR | c.2538C>A (p.Thr846=) c.*349C>A (n.*349C>A) c.2160C>A (p.Thr720=) c.2280C>A (p.Thr760=) c.2534C>A c.1776C>A (p.Thr592=) c.2157C>A (p.Thr719=) c.1746C>A (p.Thr582=) c.1899C>A (p.Thr633=) n.2290C>A n.2614C>A n.2257C>A | |
19 | g.11123313C>G | CA505487078 | LDLR | c.2538C>G (p.Thr846=) c.*349C>G (n.*349C>G) c.2160C>G (p.Thr720=) c.2280C>G (p.Thr760=) c.2534C>G c.1776C>G (p.Thr592=) c.2157C>G (p.Thr719=) c.1746C>G (p.Thr582=) c.1899C>G (p.Thr633=) n.2290C>G n.2614C>G n.2257C>G | gnomAD v4 |
19 | g.11123313C>T | CA505487075 | LDLR | c.2538C>T (p.Thr846=) c.*349C>T (n.*349C>T) c.2160C>T (p.Thr720=) c.2280C>T (p.Thr760=) c.2534C>T c.1776C>T (p.Thr592=) c.2157C>T (p.Thr719=) c.1746C>T (p.Thr582=) c.1899C>T (p.Thr633=) n.2290C>T n.2614C>T n.2257C>T | |
19 | g.11123314A= | CA2322777255 | LDLR | c.2539A= (p.Thr847=) c.*350A= (n.*350A=) c.2161A= (p.Thr721=) c.2281A= (p.Thr761=) c.2535A= c.1777A= (p.Thr593=) c.2158A= (p.Thr720=) c.1747A= (p.Thr583=) c.1900A= (p.Thr634=) n.2291A= n.2615A= n.2258A= | |
19 | g.11123314A>C | CA404095655 | LDLR | c.2539A>C (p.Thr847Pro) c.*350A>C (n.*350A>C) c.2161A>C (p.Thr721Pro) c.2281A>C (p.Thr761Pro) c.2535A>C c.1777A>C (p.Thr593Pro) c.2158A>C (p.Thr720Pro) c.1747A>C (p.Thr583Pro) c.1900A>C (p.Thr634Pro) n.2291A>C n.2615A>C n.2258A>C | |
19 | g.11123314A>G | CA404095657 | LDLR | c.2539A>G (p.Thr847Ala) c.*350A>G (n.*350A>G) c.2161A>G (p.Thr721Ala) c.2281A>G (p.Thr761Ala) c.2535A>G c.1777A>G (p.Thr593Ala) c.2158A>G (p.Thr720Ala) c.1747A>G (p.Thr583Ala) c.1900A>G (p.Thr634Ala) n.2291A>G n.2615A>G n.2258A>G | |
19 | g.11123314A>T | CA404095662 | LDLR | c.2539A>T (p.Thr847Ser) c.*350A>T (n.*350A>T) c.2161A>T (p.Thr721Ser) c.2281A>T (p.Thr761Ser) c.2535A>T c.1777A>T (p.Thr593Ser) c.2158A>T (p.Thr720Ser) c.1747A>T (p.Thr583Ser) c.1900A>T (p.Thr634Ser) n.2291A>T n.2615A>T n.2258A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11123315C>A | CA404095668 | LDLR | c.2540C>A (p.Thr847Lys) c.*351C>A (n.*351C>A) c.2162C>A (p.Thr721Lys) c.2282C>A (p.Thr761Lys) c.2536C>A c.1778C>A (p.Thr593Lys) c.2159C>A (p.Thr720Lys) c.1748C>A (p.Thr583Lys) c.1901C>A (p.Thr634Lys) n.2292C>A n.2616C>A n.2259C>A | |
19 | g.11123315C= | CA2322777256 | LDLR | c.2540C= (p.Thr847=) c.*351C= (n.*351C=) c.2162C= (p.Thr721=) c.2282C= (p.Thr761=) c.2536C= c.1778C= (p.Thr593=) c.2159C= (p.Thr720=) c.1748C= (p.Thr583=) c.1901C= (p.Thr634=) n.2292C= n.2616C= n.2259C= | |
19 | g.11123315C>G | CA404095669 | LDLR | c.2540C>G (p.Thr847Arg) c.*351C>G (n.*351C>G) c.2162C>G (p.Thr721Arg) c.2282C>G (p.Thr761Arg) c.2536C>G c.1778C>G (p.Thr593Arg) c.2159C>G (p.Thr720Arg) c.1748C>G (p.Thr583Arg) c.1901C>G (p.Thr634Arg) n.2292C>G n.2616C>G n.2259C>G | |
19 | g.11123315C>T | CA023656 | LDLR | c.2540C>T (p.Thr847Met) c.*351C>T (n.*351C>T) c.2162C>T (p.Thr721Met) c.2282C>T (p.Thr761Met) c.2536C>T c.1778C>T (p.Thr593Met) c.2159C>T (p.Thr720Met) c.1748C>T (p.Thr583Met) c.1901C>T (p.Thr634Met) n.2292C>T n.2616C>T n.2259C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123316G>A | CA039355 | LDLR | c.2541G>A (p.Thr847=) c.*352G>A (n.*352G>A) c.2163G>A (p.Thr721=) c.2283G>A (p.Thr761=) c.2537G>A c.1779G>A (p.Thr593=) c.2160G>A (p.Thr720=) c.1749G>A (p.Thr583=) c.1902G>A (p.Thr634=) n.2293G>A n.2617G>A n.2260G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11123316G>C | CA505487085 | LDLR | c.2541G>C (p.Thr847=) c.*352G>C (n.*352G>C) c.2163G>C (p.Thr721=) c.2283G>C (p.Thr761=) c.2537G>C c.1779G>C (p.Thr593=) c.2160G>C (p.Thr720=) c.1749G>C (p.Thr583=) c.1902G>C (p.Thr634=) n.2293G>C n.2617G>C n.2260G>C | |
19 | g.11123316G= | CA2322777257 | LDLR | c.2541G= (p.Thr847=) c.*352G= (n.*352G=) c.2163G= (p.Thr721=) c.2283G= (p.Thr761=) c.2537G= c.1779G= (p.Thr593=) c.2160G= (p.Thr720=) c.1749G= (p.Thr583=) c.1902G= (p.Thr634=) n.2293G= n.2617G= n.2260G= | |
19 | g.11123316G>T | CA505487087 | LDLR | c.2541G>T (p.Thr847=) c.*352G>T (n.*352G>T) c.2163G>T (p.Thr721=) c.2283G>T (p.Thr761=) c.2537G>T c.1779G>T (p.Thr593=) c.2160G>T (p.Thr720=) c.1749G>T (p.Thr583=) c.1902G>T (p.Thr634=) n.2293G>T n.2617G>T n.2260G>T | |
19 | g.11123317del | CA2695228318 | LDLR | c.2542del (p.Val848TrpfsTer3) c.*353del (n.*353del) c.2164del (p.Val722TrpfsTer3) c.2284del (p.Val762TrpfsTer3) c.2538del c.1780del (p.Val594TrpfsTer3) c.2161del (p.Val721TrpfsTer3) c.1750del (p.Val584TrpfsTer3) c.1903del (p.Val635TrpfsTer3) n.2294del n.2618del n.2261del | |
19 | g.11123317_11123322del | CA2582475492 | LDLR | c.2542_2547del (p.Val848_Glu849del) c.*353_*358del (n.*353_*358del) c.2164_2169del (p.Val722_Glu723del) c.2284_2289del (p.Val762_Glu763del) c.2538_2543del c.1780_1785del (p.Val594_Glu595del) c.2161_2166del (p.Val721_Glu722del) c.1750_1755del (p.Val584_Glu585del) c.1903_1908del (p.Val635_Glu636del) n.2294_2299del n.2618_2623del n.2261_2266del | gnomAD v4 |
19 | g.11123317G>A | CA404095682 | LDLR | c.2542G>A (p.Val848Met) c.*353G>A (n.*353G>A) c.2164G>A (p.Val722Met) c.2284G>A (p.Val762Met) c.2538G>A c.1780G>A (p.Val594Met) c.2161G>A (p.Val721Met) c.1750G>A (p.Val584Met) c.1903G>A (p.Val635Met) n.2294G>A n.2618G>A n.2261G>A | |
19 | g.11123317G>C | CA404095686 | LDLR | c.2542G>C (p.Val848Leu) c.*353G>C (n.*353G>C) c.2164G>C (p.Val722Leu) c.2284G>C (p.Val762Leu) c.2538G>C c.1780G>C (p.Val594Leu) c.2161G>C (p.Val721Leu) c.1750G>C (p.Val584Leu) c.1903G>C (p.Val635Leu) n.2294G>C n.2618G>C n.2261G>C | |
19 | g.11123317G>T | CA404095680 | LDLR | c.2542G>T (p.Val848Leu) c.*353G>T (n.*353G>T) c.2164G>T (p.Val722Leu) c.2284G>T (p.Val762Leu) c.2538G>T c.1780G>T (p.Val594Leu) c.2161G>T (p.Val721Leu) c.1750G>T (p.Val584Leu) c.1903G>T (p.Val635Leu) n.2294G>T n.2618G>T n.2261G>T | |
19 | g.11123318T>A | CA404095694 | LDLR | c.2543T>A (p.Val848Glu) c.*354T>A (n.*354T>A) c.2165T>A (p.Val722Glu) c.2285T>A (p.Val762Glu) c.2539T>A c.1781T>A (p.Val594Glu) c.2162T>A (p.Val721Glu) c.1751T>A (p.Val584Glu) c.1904T>A (p.Val635Glu) n.2295T>A n.2619T>A n.2262T>A | |
19 | g.11123318T>C | CA404095697 | LDLR | c.2543T>C (p.Val848Ala) c.*354T>C (n.*354T>C) c.2165T>C (p.Val722Ala) c.2285T>C (p.Val762Ala) c.2539T>C c.1781T>C (p.Val594Ala) c.2162T>C (p.Val721Ala) c.1751T>C (p.Val584Ala) c.1904T>C (p.Val635Ala) n.2295T>C n.2619T>C n.2262T>C | |
19 | g.11123318T>G | CA404095698 | LDLR | c.2543T>G (p.Val848Gly) c.*354T>G (n.*354T>G) c.2165T>G (p.Val722Gly) c.2285T>G (p.Val762Gly) c.2539T>G c.1781T>G (p.Val594Gly) c.2162T>G (p.Val721Gly) c.1751T>G (p.Val584Gly) c.1904T>G (p.Val635Gly) n.2295T>G n.2619T>G n.2262T>G | gnomAD v4 |
19 | g.11123318_11123319delinsTG | CA2322777258 | LDLR | c.2543_2544delinsTG (p.Val848=) c.*354_*355delinsTG (n.*354_*355delinsTG) c.2165_2166delinsTG (p.Val722=) c.2285_2286delinsTG (p.Val762=) c.2539_2540delinsTG c.1781_1782delinsTG (p.Val594=) c.2162_2163delinsTG (p.Val721=) c.1751_1752delinsTG (p.Val584=) c.1904_1905delinsTG (p.Val635=) n.2295_2296delinsTG n.2619_2620delinsTG n.2262_2263delinsTG | |
19 | g.11123319G>A | CA505487093 | LDLR | c.2544G>A (p.Val848=) c.*355G>A (n.*355G>A) c.2166G>A (p.Val722=) c.2286G>A (p.Val762=) c.2540G>A c.1782G>A (p.Val594=) c.2163G>A (p.Val721=) c.1752G>A (p.Val584=) c.1905G>A (p.Val635=) n.2296G>A n.2620G>A n.2263G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123319G>C | CA505487095 | LDLR | c.2544G>C (p.Val848=) c.*355G>C (n.*355G>C) c.2166G>C (p.Val722=) c.2286G>C (p.Val762=) c.2540G>C c.1782G>C (p.Val594=) c.2163G>C (p.Val721=) c.1752G>C (p.Val584=) c.1905G>C (p.Val635=) n.2296G>C n.2620G>C n.2263G>C | |
19 | g.11123319G= | CA2322777259 | LDLR | c.2544G= (p.Val848=) c.*355G= (n.*355G=) c.2166G= (p.Val722=) c.2286G= (p.Val762=) c.2540G= c.1782G= (p.Val594=) c.2163G= (p.Val721=) c.1752G= (p.Val584=) c.1905G= (p.Val635=) n.2296G= n.2620G= n.2263G= | |
19 | g.11123319G>T | CA505487096 | LDLR | c.2544G>T (p.Val848=) c.*355G>T (n.*355G>T) c.2166G>T (p.Val722=) c.2286G>T (p.Val762=) c.2540G>T c.1782G>T (p.Val594=) c.2163G>T (p.Val721=) c.1752G>T (p.Val584=) c.1905G>T (p.Val635=) n.2296G>T n.2620G>T n.2263G>T | |
19 | g.11123320dup | CA16602349 | LDLR | c.2545dup (p.Glu849GlyfsTer19) c.*356dup (n.*356dup) c.2167dup (p.Glu723GlyfsTer19) c.2287dup (p.Glu763GlyfsTer19) c.2541dup c.1783dup (p.Glu595GlyfsTer19) c.2164dup (p.Glu722GlyfsTer19) c.1753dup (p.Glu585GlyfsTer19) c.2287dup (p.Glu763GlyfsTer28) c.1906dup (p.Glu636GlyfsTer19) n.2297dup n.2621dup n.2264dup | ClinVar dbSNP |
19 | g.11123320del | CA1139666246 | LDLR | c.2545del (p.Glu849ArgfsTer2) c.*356del (n.*356del) c.2167del (p.Glu723ArgfsTer2) c.2287del (p.Glu763ArgfsTer2) c.2541del c.1783del (p.Glu595ArgfsTer2) c.2164del (p.Glu722ArgfsTer2) c.1753del (p.Glu585ArgfsTer2) c.1906del (p.Glu636ArgfsTer2) n.2297del n.2621del n.2264del | ClinVar dbSNP |
19 | g.11123320G>A | CA404095699 | LDLR | c.2545G>A (p.Glu849Lys) c.*356G>A (n.*356G>A) c.2167G>A (p.Glu723Lys) c.2287G>A (p.Glu763Lys) c.2541G>A c.1783G>A (p.Glu595Lys) c.2164G>A (p.Glu722Lys) c.1753G>A (p.Glu585Lys) c.1906G>A (p.Glu636Lys) n.2297G>A n.2621G>A n.2264G>A | |
19 | g.11123320G>C | CA404095700 | LDLR | c.2545G>C (p.Glu849Gln) c.*356G>C (n.*356G>C) c.2167G>C (p.Glu723Gln) c.2287G>C (p.Glu763Gln) c.2541G>C c.1783G>C (p.Glu595Gln) c.2164G>C (p.Glu722Gln) c.1753G>C (p.Glu585Gln) c.1906G>C (p.Glu636Gln) n.2297G>C n.2621G>C n.2264G>C | |
19 | g.11123320G>T | CA404095703 | LDLR | c.2545G>T (p.Glu849Ter) c.*356G>T (n.*356G>T) c.2167G>T (p.Glu723Ter) c.2287G>T (p.Glu763Ter) c.2541G>T c.1783G>T (p.Glu595Ter) c.2164G>T (p.Glu722Ter) c.1753G>T (p.Glu585Ter) c.1906G>T (p.Glu636Ter) n.2297G>T n.2621G>T n.2264G>T | |
19 | g.11123321A>C | CA404095707 | LDLR | c.2546A>C (p.Glu849Ala) c.*357A>C (n.*357A>C) c.2168A>C (p.Glu723Ala) c.2288A>C (p.Glu763Ala) c.2542A>C c.1784A>C (p.Glu595Ala) c.2165A>C (p.Glu722Ala) c.1754A>C (p.Glu585Ala) c.1907A>C (p.Glu636Ala) n.2298A>C n.2622A>C n.2265A>C | |
19 | g.11123321A>G | CA404095704 | LDLR | c.2546A>G (p.Glu849Gly) c.*357A>G (n.*357A>G) c.2168A>G (p.Glu723Gly) c.2288A>G (p.Glu763Gly) c.2542A>G c.1784A>G (p.Glu595Gly) c.2165A>G (p.Glu722Gly) c.1754A>G (p.Glu585Gly) c.1907A>G (p.Glu636Gly) n.2298A>G n.2622A>G n.2265A>G | |
19 | g.11123321A>T | CA404095706 | LDLR | c.2546A>T (p.Glu849Val) c.*357A>T (n.*357A>T) c.2168A>T (p.Glu723Val) c.2288A>T (p.Glu763Val) c.2542A>T c.1784A>T (p.Glu595Val) c.2165A>T (p.Glu722Val) c.1754A>T (p.Glu585Val) c.1907A>T (p.Glu636Val) n.2298A>T n.2622A>T n.2265A>T | |
19 | g.11123322G>A | CA505487102 | LDLR | c.2547G>A (p.Glu849=) c.*358G>A (n.*358G>A) c.2169G>A (p.Glu723=) c.2289G>A (p.Glu763=) c.2543G>A c.1785G>A (p.Glu595=) c.2166G>A (p.Glu722=) c.1755G>A (p.Glu585=) c.1908G>A (p.Glu636=) n.2299G>A n.2623G>A n.2266G>A | gnomAD v4 |
19 | g.11123322G>C | CA404095712 | LDLR | c.2547G>C (p.Glu849Asp) c.*358G>C (n.*358G>C) c.2169G>C (p.Glu723Asp) c.2289G>C (p.Glu763Asp) c.2543G>C c.1785G>C (p.Glu595Asp) c.2166G>C (p.Glu722Asp) c.1755G>C (p.Glu585Asp) c.1908G>C (p.Glu636Asp) n.2299G>C n.2623G>C n.2266G>C | gnomAD v4 |
19 | g.11123322G= | CA2322777260 | LDLR | c.2547G= (p.Glu849=) c.*358G= (n.*358G=) c.2169G= (p.Glu723=) c.2289G= (p.Glu763=) c.2543G= c.1785G= (p.Glu595=) c.2166G= (p.Glu722=) c.1755G= (p.Glu585=) c.1908G= (p.Glu636=) n.2299G= n.2623G= n.2266G= | |
19 | g.11123322G>T | CA039372 | LDLR | c.2547G>T (p.Glu849Asp) c.*358G>T (n.*358G>T) c.2169G>T (p.Glu723Asp) c.2289G>T (p.Glu763Asp) c.2543G>T c.1785G>T (p.Glu595Asp) c.2166G>T (p.Glu722Asp) c.1755G>T (p.Glu585Asp) c.1908G>T (p.Glu636Asp) n.2299G>T n.2623G>T n.2266G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123323A>C | CA404095717 | LDLR | c.2548A>C (p.Ile850Leu) c.*359A>C (n.*359A>C) c.2170A>C (p.Ile724Leu) c.2290A>C (p.Ile764Leu) c.2544A>C c.1786A>C (p.Ile596Leu) c.2167A>C (p.Ile723Leu) c.1756A>C (p.Ile586Leu) c.1909A>C (p.Ile637Leu) n.2300A>C n.2624A>C n.2267A>C | |
19 | g.11123323A>G | CA404095720 | LDLR | c.2548A>G (p.Ile850Val) c.*359A>G (n.*359A>G) c.2170A>G (p.Ile724Val) c.2290A>G (p.Ile764Val) c.2544A>G c.1786A>G (p.Ile596Val) c.2167A>G (p.Ile723Val) c.1756A>G (p.Ile586Val) c.1909A>G (p.Ile637Val) n.2300A>G n.2624A>G n.2267A>G | |
19 | g.11123323A>T | CA404095722 | LDLR | c.2548A>T (p.Ile850Leu) c.*359A>T (n.*359A>T) c.2170A>T (p.Ile724Leu) c.2290A>T (p.Ile764Leu) c.2544A>T c.1786A>T (p.Ile596Leu) c.2167A>T (p.Ile723Leu) c.1756A>T (p.Ile586Leu) c.1909A>T (p.Ile637Leu) n.2300A>T n.2624A>T n.2267A>T | |
19 | g.11123324_11123325dup | CA2582475493 | LDLR | c.2549_2550dup (p.Val851Ter) c.*360_*361dup (n.*360_*361dup) c.2171_2172dup (p.Val725Ter) c.2291_2292dup (p.Val765Ter) c.2545_2546dup c.1787_1788dup (p.Val597Ter) c.2168_2169dup (p.Val724Ter) c.1757_1758dup (p.Val587Ter) c.1910_1911dup (p.Val638Ter) n.2301_2302dup n.2625_2626dup n.2268_2269dup | gnomAD v4 |
19 | g.11123324T>A | CA404095726 | LDLR | c.2549T>A (p.Ile850Lys) c.*360T>A (n.*360T>A) c.2171T>A (p.Ile724Lys) c.2291T>A (p.Ile764Lys) c.2545T>A c.1787T>A (p.Ile596Lys) c.2168T>A (p.Ile723Lys) c.1757T>A (p.Ile586Lys) c.1910T>A (p.Ile637Lys) n.2301T>A n.2625T>A n.2268T>A | |
19 | g.11123324T>C | CA039387 | LDLR | c.2549T>C (p.Ile850Thr) c.*360T>C (n.*360T>C) c.2171T>C (p.Ile724Thr) c.2291T>C (p.Ile764Thr) c.2545T>C c.1787T>C (p.Ile596Thr) c.2168T>C (p.Ile723Thr) c.1757T>C (p.Ile586Thr) c.1910T>C (p.Ile637Thr) n.2301T>C n.2625T>C n.2268T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11123324T>G | CA404095729 | LDLR | c.2549T>G (p.Ile850Arg) c.*360T>G (n.*360T>G) c.2171T>G (p.Ile724Arg) c.2291T>G (p.Ile764Arg) c.2545T>G c.1787T>G (p.Ile596Arg) c.2168T>G (p.Ile723Arg) c.1757T>G (p.Ile586Arg) c.1910T>G (p.Ile637Arg) n.2301T>G n.2625T>G n.2268T>G | ClinVar dbSNP gnomAD v4 |
19 | g.11123324T= | CA2322777261 | LDLR | c.2549T= (p.Ile850=) c.*360T= (n.*360T=) c.2171T= (p.Ile724=) c.2291T= (p.Ile764=) c.2545T= c.1787T= (p.Ile596=) c.2168T= (p.Ile723=) c.1757T= (p.Ile586=) c.1910T= (p.Ile637=) n.2301T= n.2625T= n.2268T= | |
19 | g.11123324_11123325delinsTA | CA2322777262 | LDLR | c.2549_2550delinsTA (p.Ile850=) c.*360_*361delinsTA (n.*360_*361delinsTA) c.2171_2172delinsTA (p.Ile724=) c.2291_2292delinsTA (p.Ile764=) c.2545_2546delinsTA c.1787_1788delinsTA (p.Ile596=) c.2168_2169delinsTA (p.Ile723=) c.1757_1758delinsTA (p.Ile586=) c.1910_1911delinsTA (p.Ile637=) n.2301_2302delinsTA n.2625_2626delinsTA n.2268_2269delinsTA | |
19 | g.11123325del | CA10576332 | LDLR | c.2550del (p.Ile850MetfsTer2) c.*361del (n.*361del) c.2172del (p.Ile724MetfsTer2) c.2292del (p.Ile764MetfsTer2) c.2546del c.1788del (p.Ile596MetfsTer2) c.2169del (p.Ile723MetfsTer2) c.1758del (p.Ile586MetfsTer2) c.1911del (p.Ile637MetfsTer2) n.2302del n.2626del n.2269del | ClinVar dbSNP gnomAD v4 |
19 | g.11123325A>C | CA505487108 | LDLR | c.2550A>C (p.Ile850=) c.*361A>C (n.*361A>C) c.2172A>C (p.Ile724=) c.2292A>C (p.Ile764=) c.2546A>C c.1788A>C (p.Ile596=) c.2169A>C (p.Ile723=) c.1758A>C (p.Ile586=) c.1911A>C (p.Ile637=) n.2302A>C n.2626A>C n.2269A>C | |
19 | g.11123325A>G | CA404095734 | LDLR | c.2550A>G (p.Ile850Met) c.*361A>G (n.*361A>G) c.2172A>G (p.Ile724Met) c.2292A>G (p.Ile764Met) c.2546A>G c.1788A>G (p.Ile596Met) c.2169A>G (p.Ile723Met) c.1758A>G (p.Ile586Met) c.1911A>G (p.Ile637Met) n.2302A>G n.2626A>G n.2269A>G | |
19 | g.11123325A>T | CA505487109 | LDLR | c.2550A>T (p.Ile850=) c.*361A>T (n.*361A>T) c.2172A>T (p.Ile724=) c.2292A>T (p.Ile764=) c.2546A>T c.1788A>T (p.Ile596=) c.2169A>T (p.Ile723=) c.1758A>T (p.Ile586=) c.1911A>T (p.Ile637=) n.2302A>T n.2626A>T n.2269A>T | |
19 | g.11123325_11123333delinsAGTGACAAT | CA2322777263 | LDLR | c.2550_2558delinsAGTGACAAT (p.Ile850=) c.*361_*369delinsAGTGACAAT (n.*361_*369delinsAGTGACAAT) c.2172_2180delinsAGTGACAAT (p.Ile724=) c.2292_2300delinsAGTGACAAT (p.Ile764=) c.2546_2554delinsAGTGACAAT c.1788_1796delinsAGTGACAAT (p.Ile596=) c.2169_2177delinsAGTGACAAT (p.Ile723=) c.1758_1766delinsAGTGACAAT (p.Ile586=) c.1911_1919delinsAGTGACAAT (p.Ile637=) n.2302_2310delinsAGTGACAAT n.2626_2634delinsAGTGACAAT n.2269_2277delinsAGTGACAAT | |
19 | g.11123326G>A | CA404095741 | LDLR | c.2551G>A (p.Val851Met) c.*362G>A (n.*362G>A) c.2173G>A (p.Val725Met) c.2293G>A (p.Val765Met) c.2547G>A c.1789G>A (p.Val597Met) c.2170G>A (p.Val724Met) c.1759G>A (p.Val587Met) c.1912G>A (p.Val638Met) n.2303G>A n.2627G>A n.2270G>A | |
19 | g.11123326G>C | CA404095744 | LDLR | c.2551G>C (p.Val851Leu) c.*362G>C (n.*362G>C) c.2173G>C (p.Val725Leu) c.2293G>C (p.Val765Leu) c.2547G>C c.1789G>C (p.Val597Leu) c.2170G>C (p.Val724Leu) c.1759G>C (p.Val587Leu) c.1912G>C (p.Val638Leu) n.2303G>C n.2627G>C n.2270G>C | |
19 | g.11123326G>T | CA404095747 | LDLR | c.2551G>T (p.Val851Leu) c.*362G>T (n.*362G>T) c.2173G>T (p.Val725Leu) c.2293G>T (p.Val765Leu) c.2547G>T c.1789G>T (p.Val597Leu) c.2170G>T (p.Val724Leu) c.1759G>T (p.Val587Leu) c.1912G>T (p.Val638Leu) n.2303G>T n.2627G>T n.2270G>T | |
19 | g.11123328_11123335del | CA16602350 | LDLR | c.2553_2560del (p.Thr852SerfsTer13) c.*364_*371del (n.*364_*371del) c.2175_2182del (p.Thr726SerfsTer13) c.2295_2302del (p.Thr766SerfsTer13) c.2549_2556del c.1791_1798del (p.Thr598SerfsTer13) c.2172_2179del (p.Thr725SerfsTer13) c.1761_1768del (p.Thr588SerfsTer13) c.2295_2302del (p.Thr766SerfsTer22) c.1914_1921del (p.Thr639SerfsTer13) n.2305_2312del n.2629_2636del n.2272_2279del | ClinVar dbSNP |
19 | g.11123327T>A | CA404095751 | LDLR | c.2552T>A (p.Val851Glu) c.*363T>A (n.*363T>A) c.2174T>A (p.Val725Glu) c.2294T>A (p.Val765Glu) c.2548T>A c.1790T>A (p.Val597Glu) c.2171T>A (p.Val724Glu) c.1760T>A (p.Val587Glu) c.1913T>A (p.Val638Glu) n.2304T>A n.2628T>A n.2271T>A | |
19 | g.11123327T>C | CA404095753 | LDLR | c.2552T>C (p.Val851Ala) c.*363T>C (n.*363T>C) c.2174T>C (p.Val725Ala) c.2294T>C (p.Val765Ala) c.2548T>C c.1790T>C (p.Val597Ala) c.2171T>C (p.Val724Ala) c.1760T>C (p.Val587Ala) c.1913T>C (p.Val638Ala) n.2304T>C n.2628T>C n.2271T>C | ClinVar gnomAD v4 |
19 | g.11123327T>G | CA10585814 | LDLR | c.2552T>G (p.Val851Gly) c.*363T>G (n.*363T>G) c.2174T>G (p.Val725Gly) c.2294T>G (p.Val765Gly) c.2548T>G c.1790T>G (p.Val597Gly) c.2171T>G (p.Val724Gly) c.1760T>G (p.Val587Gly) c.1913T>G (p.Val638Gly) n.2304T>G n.2628T>G n.2271T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123327T= | CA2322777264 | LDLR | c.2552T= (p.Val851=) c.*363T= (n.*363T=) c.2174T= (p.Val725=) c.2294T= (p.Val765=) c.2548T= c.1790T= (p.Val597=) c.2171T= (p.Val724=) c.1760T= (p.Val587=) c.1913T= (p.Val638=) n.2304T= n.2628T= n.2271T= | |
19 | g.11123328G>A | CA505487118 | LDLR | c.2553G>A (p.Val851=) c.*364G>A (n.*364G>A) c.2175G>A (p.Val725=) c.2295G>A (p.Val765=) c.2549G>A c.1791G>A (p.Val597=) c.2172G>A (p.Val724=) c.1761G>A (p.Val587=) c.1914G>A (p.Val638=) n.2305G>A n.2629G>A n.2272G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11123328G>C | CA505487117 | LDLR | c.2553G>C (p.Val851=) c.*364G>C (n.*364G>C) c.2175G>C (p.Val725=) c.2295G>C (p.Val765=) c.2549G>C c.1791G>C (p.Val597=) c.2172G>C (p.Val724=) c.1761G>C (p.Val587=) c.1914G>C (p.Val638=) n.2305G>C n.2629G>C n.2272G>C | |
19 | g.11123328G= | CA2322777265 | LDLR | c.2553G= (p.Val851=) c.*364G= (n.*364G=) c.2175G= (p.Val725=) c.2295G= (p.Val765=) c.2549G= c.1791G= (p.Val597=) c.2172G= (p.Val724=) c.1761G= (p.Val587=) c.1914G= (p.Val638=) n.2305G= n.2629G= n.2272G= | |
19 | g.11123328G>T | CA505487116 | LDLR | c.2553G>T (p.Val851=) c.*364G>T (n.*364G>T) c.2175G>T (p.Val725=) c.2295G>T (p.Val765=) c.2549G>T c.1791G>T (p.Val597=) c.2172G>T (p.Val724=) c.1761G>T (p.Val587=) c.1914G>T (p.Val638=) n.2305G>T n.2629G>T n.2272G>T | |
19 | g.11123328_11123330delinsGAC | CA2322777266 | LDLR | c.2553_2555delinsGAC (p.Val851=) c.*364_*366delinsGAC (n.*364_*366delinsGAC) c.2175_2177delinsGAC (p.Val725=) c.2295_2297delinsGAC (p.Val765=) c.2549_2551delinsGAC c.1791_1793delinsGAC (p.Val597=) c.2172_2174delinsGAC (p.Val724=) c.1761_1763delinsGAC (p.Val587=) c.1914_1916delinsGAC (p.Val638=) n.2305_2307delinsGAC n.2629_2631delinsGAC n.2272_2274delinsGAC | |
19 | g.11123329del | CA2695228319 | LDLR | c.2554del (p.Thr852GlnfsTer22) c.*365del (n.*365del) c.2176del (p.Thr726GlnfsTer22) c.2296del (p.Thr766GlnfsTer22) c.2550del c.1792del (p.Thr598GlnfsTer22) c.2173del (p.Thr725GlnfsTer22) c.1762del (p.Thr588GlnfsTer22) c.2296del (p.Thr766GlnfsTer?) c.1915del (p.Thr639GlnfsTer22) n.2306del n.2630del n.2273del | |
19 | g.11123329A= | CA2322777267 | LDLR | c.2554A= (p.Thr852=) c.*365A= (n.*365A=) c.2176A= (p.Thr726=) c.2296A= (p.Thr766=) c.2550A= c.1792A= (p.Thr598=) c.2173A= (p.Thr725=) c.1762A= (p.Thr588=) c.1915A= (p.Thr639=) n.2306A= n.2630A= n.2273A= | |
19 | g.11123329A>C | CA404095762 | LDLR | c.2554A>C (p.Thr852Pro) c.*365A>C (n.*365A>C) c.2176A>C (p.Thr726Pro) c.2296A>C (p.Thr766Pro) c.2550A>C c.1792A>C (p.Thr598Pro) c.2173A>C (p.Thr725Pro) c.1762A>C (p.Thr588Pro) c.1915A>C (p.Thr639Pro) n.2306A>C n.2630A>C n.2273A>C | |
19 | g.11123329A>G | CA10585815 | LDLR | c.2554A>G (p.Thr852Ala) c.*365A>G (n.*365A>G) c.2176A>G (p.Thr726Ala) c.2296A>G (p.Thr766Ala) c.2550A>G c.1792A>G (p.Thr598Ala) c.2173A>G (p.Thr725Ala) c.1762A>G (p.Thr588Ala) c.1915A>G (p.Thr639Ala) n.2306A>G n.2630A>G n.2273A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11123329A>T | CA404095767 | LDLR | c.2554A>T (p.Thr852Ser) c.*365A>T (n.*365A>T) c.2176A>T (p.Thr726Ser) c.2296A>T (p.Thr766Ser) c.2550A>T c.1792A>T (p.Thr598Ser) c.2173A>T (p.Thr725Ser) c.1762A>T (p.Thr588Ser) c.1915A>T (p.Thr639Ser) n.2306A>T n.2630A>T n.2273A>T | |
19 | g.11123330_11123331del | CA10585817 | LDLR | c.2555_2556del (p.Thr852AsnfsTer15) c.*366_*367del (n.*366_*367del) c.2177_2178del (p.Thr726AsnfsTer15) c.2297_2298del (p.Thr766AsnfsTer15) c.2551_2552del c.1793_1794del (p.Thr598AsnfsTer15) c.2174_2175del (p.Thr725AsnfsTer15) c.1763_1764del (p.Thr588AsnfsTer15) c.2297_2298del (p.Thr766AsnfsTer24) c.1916_1917del (p.Thr639AsnfsTer15) n.2307_2308del n.2631_2632del n.2274_2275del | ClinVar dbSNP |