| 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.11123193del | CA2739291176 | LDLR | c.2418del (p.Thr807ProfsTer9) c.*229del (n.*229del) c.2040del (p.Thr681ProfsTer9) c.2160del (p.Thr721ProfsTer9) c.2414del c.1656del (p.Thr553ProfsTer9) c.2037del (p.Thr680ProfsTer9) c.1626del (p.Thr543ProfsTer9) c.1779del (p.Thr594ProfsTer9) n.2170del n.2494del n.2137del | |
| 19 | g.11123193C>A | CA505486859 | LDLR | c.2418C>A (p.Ala806=) c.*229C>A (n.*229C>A) c.2040C>A (p.Ala680=) c.2160C>A (p.Ala720=) c.2414C>A c.1656C>A (p.Ala552=) c.2037C>A (p.Ala679=) c.1626C>A (p.Ala542=) c.1779C>A (p.Ala593=) n.2170C>A n.2494C>A n.2137C>A | |
| 19 | g.11123193C>G | CA505486860 | LDLR | c.2418C>G (p.Ala806=) c.*229C>G (n.*229C>G) c.2040C>G (p.Ala680=) c.2160C>G (p.Ala720=) c.2414C>G c.1656C>G (p.Ala552=) c.2037C>G (p.Ala679=) c.1626C>G (p.Ala542=) c.1779C>G (p.Ala593=) n.2170C>G n.2494C>G n.2137C>G | |
| 19 | g.11123193C>T | CA505486861 | LDLR | c.2418C>T (p.Ala806=) c.*229C>T (n.*229C>T) c.2040C>T (p.Ala680=) c.2160C>T (p.Ala720=) c.2414C>T c.1656C>T (p.Ala552=) c.2037C>T (p.Ala679=) c.1626C>T (p.Ala542=) c.1779C>T (p.Ala593=) n.2170C>T n.2494C>T n.2137C>T | |
| 19 | g.11123194A= | CA2322777172 | LDLR | c.2419A= (p.Thr807=) c.*230A= (n.*230A=) c.2041A= (p.Thr681=) c.2161A= (p.Thr721=) c.2415A= c.1657A= (p.Thr553=) c.2038A= (p.Thr680=) c.1627A= (p.Thr543=) c.1780A= (p.Thr594=) n.2171A= n.2495A= n.2138A= | |
| 19 | g.11123194A>C | CA404094810 | LDLR | c.2419A>C (p.Thr807Pro) c.*230A>C (n.*230A>C) c.2041A>C (p.Thr681Pro) c.2161A>C (p.Thr721Pro) c.2415A>C c.1657A>C (p.Thr553Pro) c.2038A>C (p.Thr680Pro) c.1627A>C (p.Thr543Pro) c.1780A>C (p.Thr594Pro) n.2171A>C n.2495A>C n.2138A>C | |
| 19 | g.11123194A>G | CA404094808 | LDLR | c.2419A>G (p.Thr807Ala) c.*230A>G (n.*230A>G) c.2041A>G (p.Thr681Ala) c.2161A>G (p.Thr721Ala) c.2415A>G c.1657A>G (p.Thr553Ala) c.2038A>G (p.Thr680Ala) c.1627A>G (p.Thr543Ala) c.1780A>G (p.Thr594Ala) n.2171A>G n.2495A>G n.2138A>G | ClinVar dbSNP |
| 19 | g.11123194A>T | CA404094806 | LDLR | c.2419A>T (p.Thr807Ser) c.*230A>T (n.*230A>T) c.2041A>T (p.Thr681Ser) c.2161A>T (p.Thr721Ser) c.2415A>T c.1657A>T (p.Thr553Ser) c.2038A>T (p.Thr680Ser) c.1627A>T (p.Thr543Ser) c.1780A>T (p.Thr594Ser) n.2171A>T n.2495A>T n.2138A>T | |
| 19 | g.11123195C>A | CA404094811 | LDLR | c.2420C>A (p.Thr807Asn) c.*231C>A (n.*231C>A) c.2042C>A (p.Thr681Asn) c.2162C>A (p.Thr721Asn) c.2416C>A c.1658C>A (p.Thr553Asn) c.2039C>A (p.Thr680Asn) c.1628C>A (p.Thr543Asn) c.1781C>A (p.Thr594Asn) n.2172C>A n.2496C>A n.2139C>A | |
| 19 | g.11123195C>G | CA404094813 | LDLR | c.2420C>G (p.Thr807Ser) c.*231C>G (n.*231C>G) c.2042C>G (p.Thr681Ser) c.2162C>G (p.Thr721Ser) c.2416C>G c.1658C>G (p.Thr553Ser) c.2039C>G (p.Thr680Ser) c.1628C>G (p.Thr543Ser) c.1781C>G (p.Thr594Ser) n.2172C>G n.2496C>G n.2139C>G | |
| 19 | g.11123195C>T | CA404094815 | LDLR | c.2420C>T (p.Thr807Ile) c.*231C>T (n.*231C>T) c.2042C>T (p.Thr681Ile) c.2162C>T (p.Thr721Ile) c.2416C>T c.1658C>T (p.Thr553Ile) c.2039C>T (p.Thr680Ile) c.1628C>T (p.Thr543Ile) c.1781C>T (p.Thr594Ile) n.2172C>T n.2496C>T n.2139C>T | gnomAD v4 |
| 19 | g.11123197del | CA2695228316 | LDLR | c.2422del (p.Gln808ArgfsTer8) c.*233del (n.*233del) c.2044del (p.Gln682ArgfsTer8) c.2164del (p.Gln722ArgfsTer8) c.2418del c.1660del (p.Gln554ArgfsTer8) c.2041del (p.Gln681ArgfsTer8) c.1630del (p.Gln544ArgfsTer8) c.1783del (p.Gln595ArgfsTer8) n.2174del n.2498del n.2141del | |
| 19 | g.11123196C>A | CA505486865 | LDLR | c.2421C>A (p.Thr807=) c.*232C>A (n.*232C>A) c.2043C>A (p.Thr681=) c.2163C>A (p.Thr721=) c.2417C>A c.1659C>A (p.Thr553=) c.2040C>A (p.Thr680=) c.1629C>A (p.Thr543=) c.1782C>A (p.Thr594=) n.2173C>A n.2497C>A n.2140C>A | |
| 19 | g.11123196C>G | CA505486866 | LDLR | c.2421C>G (p.Thr807=) c.*232C>G (n.*232C>G) c.2043C>G (p.Thr681=) c.2163C>G (p.Thr721=) c.2417C>G c.1659C>G (p.Thr553=) c.2040C>G (p.Thr680=) c.1629C>G (p.Thr543=) c.1782C>G (p.Thr594=) n.2173C>G n.2497C>G n.2140C>G | |
| 19 | g.11123196C>T | CA505486868 | LDLR | c.2421C>T (p.Thr807=) c.*232C>T (n.*232C>T) c.2043C>T (p.Thr681=) c.2163C>T (p.Thr721=) c.2417C>T c.1659C>T (p.Thr553=) c.2040C>T (p.Thr680=) c.1629C>T (p.Thr543=) c.1782C>T (p.Thr594=) n.2173C>T n.2497C>T n.2140C>T | |
| 19 | g.11123197C>A | CA404094817 | LDLR | c.2422C>A (p.Gln808Lys) c.*233C>A (n.*233C>A) c.2044C>A (p.Gln682Lys) c.2164C>A (p.Gln722Lys) c.2418C>A c.1660C>A (p.Gln554Lys) c.2041C>A (p.Gln681Lys) c.1630C>A (p.Gln544Lys) c.1783C>A (p.Gln595Lys) n.2174C>A n.2498C>A n.2141C>A | |
| 19 | g.11123197C= | CA2322777173 | LDLR | c.2422C= (p.Gln808=) c.*233C= (n.*233C=) c.2044C= (p.Gln682=) c.2164C= (p.Gln722=) c.2418C= c.1660C= (p.Gln554=) c.2041C= (p.Gln681=) c.1630C= (p.Gln544=) c.1783C= (p.Gln595=) n.2174C= n.2498C= n.2141C= | |
| 19 | g.11123197C>G | CA404094819 | LDLR | c.2422C>G (p.Gln808Glu) c.*233C>G (n.*233C>G) c.2044C>G (p.Gln682Glu) c.2164C>G (p.Gln722Glu) c.2418C>G c.1660C>G (p.Gln554Glu) c.2041C>G (p.Gln681Glu) c.1630C>G (p.Gln544Glu) c.1783C>G (p.Gln595Glu) n.2174C>G n.2498C>G n.2141C>G | |
| 19 | g.11123197C>T | CA10585795 | LDLR | c.2422C>T (p.Gln808Ter) c.*233C>T (n.*233C>T) c.2044C>T (p.Gln682Ter) c.2164C>T (p.Gln722Ter) c.2418C>T c.1660C>T (p.Gln554Ter) c.2041C>T (p.Gln681Ter) c.1630C>T (p.Gln544Ter) c.1783C>T (p.Gln595Ter) n.2174C>T n.2498C>T n.2141C>T | ClinVar dbSNP |
| 19 | g.11123198A= | CA2322777175 | LDLR | c.2423A= (p.Gln808=) c.*234A= (n.*234A=) c.2045A= (p.Gln682=) c.2165A= (p.Gln722=) c.2419A= c.1661A= (p.Gln554=) c.2042A= (p.Gln681=) c.1631A= (p.Gln544=) c.1784A= (p.Gln595=) n.2175A= n.2499A= n.2142A= | |
| 19 | g.11123198A>C | CA404094822 | LDLR | c.2423A>C (p.Gln808Pro) c.*234A>C (n.*234A>C) c.2045A>C (p.Gln682Pro) c.2165A>C (p.Gln722Pro) c.2419A>C c.1661A>C (p.Gln554Pro) c.2042A>C (p.Gln681Pro) c.1631A>C (p.Gln544Pro) c.1784A>C (p.Gln595Pro) n.2175A>C n.2499A>C n.2142A>C | dbSNP |
| 19 | g.11123198A>G | CA404094825 | LDLR | c.2423A>G (p.Gln808Arg) c.*234A>G (n.*234A>G) c.2045A>G (p.Gln682Arg) c.2165A>G (p.Gln722Arg) c.2419A>G c.1661A>G (p.Gln554Arg) c.2042A>G (p.Gln681Arg) c.1631A>G (p.Gln544Arg) c.1784A>G (p.Gln595Arg) n.2175A>G n.2499A>G n.2142A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11123198A>T | CA404094823 | LDLR | c.2423A>T (p.Gln808Leu) c.*234A>T (n.*234A>T) c.2045A>T (p.Gln682Leu) c.2165A>T (p.Gln722Leu) c.2419A>T c.1661A>T (p.Gln554Leu) c.2042A>T (p.Gln681Leu) c.1631A>T (p.Gln544Leu) c.1784A>T (p.Gln595Leu) n.2175A>T n.2499A>T n.2142A>T | |
| 19 | g.11123198_11123199delinsAG | CA2322777174 | LDLR | c.2423_2424delinsAG (p.Gln808=) c.*234_*235delinsAG (n.*234_*235delinsAG) c.2045_2046delinsAG (p.Gln682=) c.2165_2166delinsAG (p.Gln722=) c.2419_2420delinsAG c.1661_1662delinsAG (p.Gln554=) c.2042_2043delinsAG (p.Gln681=) c.1631_1632delinsAG (p.Gln544=) c.1784_1785delinsAG (p.Gln595=) n.2175_2176delinsAG n.2499_2500delinsAG n.2142_2143delinsAG | |
| 19 | g.11123199G>A | CA505486872 | LDLR | c.2424G>A (p.Gln808=) c.*235G>A (n.*235G>A) c.2046G>A (p.Gln682=) c.2166G>A (p.Gln722=) c.2420G>A c.1662G>A (p.Gln554=) c.2043G>A (p.Gln681=) c.1632G>A (p.Gln544=) c.1785G>A (p.Gln595=) n.2176G>A n.2500G>A n.2143G>A | |
| 19 | g.11123199G>C | CA404094828 | LDLR | c.2424G>C (p.Gln808His) c.*235G>C (n.*235G>C) c.2046G>C (p.Gln682His) c.2166G>C (p.Gln722His) c.2420G>C c.1662G>C (p.Gln554His) c.2043G>C (p.Gln681His) c.1632G>C (p.Gln544His) c.1785G>C (p.Gln595His) n.2176G>C n.2500G>C n.2143G>C | |
| 19 | g.11123199G>T | CA404094829 | LDLR | c.2424G>T (p.Gln808His) c.*235G>T (n.*235G>T) c.2046G>T (p.Gln682His) c.2166G>T (p.Gln722His) c.2420G>T c.1662G>T (p.Gln554His) c.2043G>T (p.Gln681His) c.1632G>T (p.Gln544His) c.1785G>T (p.Gln595His) n.2176G>T n.2500G>T n.2143G>T | |
| 19 | g.11123200del | CA10585796 | LDLR | c.2425del (p.Glu809ArgfsTer7) c.*236del (n.*236del) c.2047del (p.Glu683ArgfsTer7) c.2167del (p.Glu723ArgfsTer7) c.2421del c.1663del (p.Glu555ArgfsTer7) c.2044del (p.Glu682ArgfsTer7) c.1633del (p.Glu545ArgfsTer7) c.1786del (p.Glu596ArgfsTer7) n.2177del n.2501del n.2144del | ClinVar dbSNP |
| 19 | g.11123200G>A | CA404094832 | LDLR | c.2425G>A (p.Glu809Lys) c.*236G>A (n.*236G>A) c.2047G>A (p.Glu683Lys) c.2167G>A (p.Glu723Lys) c.2421G>A c.1663G>A (p.Glu555Lys) c.2044G>A (p.Glu682Lys) c.1633G>A (p.Glu545Lys) c.1786G>A (p.Glu596Lys) n.2177G>A n.2501G>A n.2144G>A | gnomAD v4 COSMIC |
| 19 | g.11123200G>C | CA404094833 | LDLR | c.2425G>C (p.Glu809Gln) c.*236G>C (n.*236G>C) c.2047G>C (p.Glu683Gln) c.2167G>C (p.Glu723Gln) c.2421G>C c.1663G>C (p.Glu555Gln) c.2044G>C (p.Glu682Gln) c.1633G>C (p.Glu545Gln) c.1786G>C (p.Glu596Gln) n.2177G>C n.2501G>C n.2144G>C | |
| 19 | g.11123200G= | CA2322777176 | LDLR | c.2425G= (p.Glu809=) c.*236G= (n.*236G=) c.2047G= (p.Glu683=) c.2167G= (p.Glu723=) c.2421G= c.1663G= (p.Glu555=) c.2044G= (p.Glu682=) c.1633G= (p.Glu545=) c.1786G= (p.Glu596=) n.2177G= n.2501G= n.2144G= | |
| 19 | g.11123200G>T | CA10654855 | LDLR | c.2425G>T (p.Glu809Ter) c.*236G>T (n.*236G>T) c.2047G>T (p.Glu683Ter) c.2167G>T (p.Glu723Ter) c.2421G>T c.1663G>T (p.Glu555Ter) c.2044G>T (p.Glu682Ter) c.1633G>T (p.Glu545Ter) c.1786G>T (p.Glu596Ter) n.2177G>T n.2501G>T n.2144G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123201A= | CA2322777177 | LDLR | c.2426A= (p.Glu809=) c.*237A= (n.*237A=) c.2048A= (p.Glu683=) c.2168A= (p.Glu723=) c.2422A= c.1664A= (p.Glu555=) c.2045A= (p.Glu682=) c.1634A= (p.Glu545=) c.1787A= (p.Glu596=) n.2178A= n.2502A= n.2145A= | |
| 19 | g.11123201A>C | CA404094836 | LDLR | c.2426A>C (p.Glu809Ala) c.*237A>C (n.*237A>C) c.2048A>C (p.Glu683Ala) c.2168A>C (p.Glu723Ala) c.2422A>C c.1664A>C (p.Glu555Ala) c.2045A>C (p.Glu682Ala) c.1634A>C (p.Glu545Ala) c.1787A>C (p.Glu596Ala) n.2178A>C n.2502A>C n.2145A>C | |
| 19 | g.11123201A>G | CA404094838 | LDLR | c.2426A>G (p.Glu809Gly) c.*237A>G (n.*237A>G) c.2048A>G (p.Glu683Gly) c.2168A>G (p.Glu723Gly) c.2422A>G c.1664A>G (p.Glu555Gly) c.2045A>G (p.Glu682Gly) c.1634A>G (p.Glu545Gly) c.1787A>G (p.Glu596Gly) n.2178A>G n.2502A>G n.2145A>G | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11123201A>T | CA404094839 | LDLR | c.2426A>T (p.Glu809Val) c.*237A>T (n.*237A>T) c.2048A>T (p.Glu683Val) c.2168A>T (p.Glu723Val) c.2422A>T c.1664A>T (p.Glu555Val) c.2045A>T (p.Glu682Val) c.1634A>T (p.Glu545Val) c.1787A>T (p.Glu596Val) n.2178A>T n.2502A>T n.2145A>T | |
| 19 | g.11123202G>A | CA505486875 | LDLR | c.2427G>A (p.Glu809=) c.*238G>A (n.*238G>A) c.2049G>A (p.Glu683=) c.2169G>A (p.Glu723=) c.2423G>A c.1665G>A (p.Glu555=) c.2046G>A (p.Glu682=) c.1635G>A (p.Glu545=) c.1788G>A (p.Glu596=) n.2179G>A n.2503G>A n.2146G>A | |
| 19 | g.11123202G>C | CA404094841 | LDLR | c.2427G>C (p.Glu809Asp) c.*238G>C (n.*238G>C) c.2049G>C (p.Glu683Asp) c.2169G>C (p.Glu723Asp) c.2423G>C c.1665G>C (p.Glu555Asp) c.2046G>C (p.Glu682Asp) c.1635G>C (p.Glu545Asp) c.1788G>C (p.Glu596Asp) n.2179G>C n.2503G>C n.2146G>C | |
| 19 | g.11123202G>T | CA404094842 | LDLR | c.2427G>T (p.Glu809Asp) c.*238G>T (n.*238G>T) c.2049G>T (p.Glu683Asp) c.2169G>T (p.Glu723Asp) c.2423G>T c.1665G>T (p.Glu555Asp) c.2046G>T (p.Glu682Asp) c.1635G>T (p.Glu545Asp) c.1788G>T (p.Glu596Asp) n.2179G>T n.2503G>T n.2146G>T | |
| 19 | g.11123203A>C | CA404094844 | LDLR | c.2428A>C (p.Thr810Pro) c.*239A>C (n.*239A>C) c.2050A>C (p.Thr684Pro) c.2170A>C (p.Thr724Pro) c.2424A>C c.1666A>C (p.Thr556Pro) c.2047A>C (p.Thr683Pro) c.1636A>C (p.Thr546Pro) c.1789A>C (p.Thr597Pro) n.2180A>C n.2504A>C n.2147A>C | |
| 19 | g.11123203A>G | CA404094848 | LDLR | c.2428A>G (p.Thr810Ala) c.*239A>G (n.*239A>G) c.2050A>G (p.Thr684Ala) c.2170A>G (p.Thr724Ala) c.2424A>G c.1666A>G (p.Thr556Ala) c.2047A>G (p.Thr683Ala) c.1636A>G (p.Thr546Ala) c.1789A>G (p.Thr597Ala) n.2180A>G n.2504A>G n.2147A>G | ClinVar |
| 19 | g.11123203A>T | CA404094846 | LDLR | c.2428A>T (p.Thr810Ser) c.*239A>T (n.*239A>T) c.2050A>T (p.Thr684Ser) c.2170A>T (p.Thr724Ser) c.2424A>T c.1666A>T (p.Thr556Ser) c.2047A>T (p.Thr683Ser) c.1636A>T (p.Thr546Ser) c.1789A>T (p.Thr597Ser) n.2180A>T n.2504A>T n.2147A>T | |
| 19 | g.11123204C>A | CA404094849 | LDLR | c.2429C>A (p.Thr810Lys) c.*240C>A (n.*240C>A) c.2051C>A (p.Thr684Lys) c.2171C>A (p.Thr724Lys) c.2425C>A c.1667C>A (p.Thr556Lys) c.2048C>A (p.Thr683Lys) c.1637C>A (p.Thr546Lys) c.1790C>A (p.Thr597Lys) n.2181C>A n.2505C>A n.2148C>A | |
| 19 | g.11123204C= | CA2322777178 | LDLR | c.2429C= (p.Thr810=) c.*240C= (n.*240C=) c.2051C= (p.Thr684=) c.2171C= (p.Thr724=) c.2425C= c.1667C= (p.Thr556=) c.2048C= (p.Thr683=) c.1637C= (p.Thr546=) c.1790C= (p.Thr597=) n.2181C= n.2505C= n.2148C= | |
| 19 | g.11123204C>G | CA404094850 | LDLR | c.2429C>G (p.Thr810Arg) c.*240C>G (n.*240C>G) c.2051C>G (p.Thr684Arg) c.2171C>G (p.Thr724Arg) c.2425C>G c.1667C>G (p.Thr556Arg) c.2048C>G (p.Thr683Arg) c.1637C>G (p.Thr546Arg) c.1790C>G (p.Thr597Arg) n.2181C>G n.2505C>G n.2148C>G | |
| 19 | g.11123204C>T | CA10585797 | LDLR | c.2429C>T (p.Thr810Ile) c.*240C>T (n.*240C>T) c.2051C>T (p.Thr684Ile) c.2171C>T (p.Thr724Ile) c.2425C>T c.1667C>T (p.Thr556Ile) c.2048C>T (p.Thr683Ile) c.1637C>T (p.Thr546Ile) c.1790C>T (p.Thr597Ile) n.2181C>T n.2505C>T n.2148C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123205A>C | CA505486882 | LDLR | c.2430A>C (p.Thr810=) c.*241A>C (n.*241A>C) c.2052A>C (p.Thr684=) c.2172A>C (p.Thr724=) c.2426A>C c.1668A>C (p.Thr556=) c.2049A>C (p.Thr683=) c.1638A>C (p.Thr546=) c.1791A>C (p.Thr597=) n.2182A>C n.2506A>C n.2149A>C | |
| 19 | g.11123205A>G | CA505486881 | LDLR | c.2430A>G (p.Thr810=) c.*241A>G (n.*241A>G) c.2052A>G (p.Thr684=) c.2172A>G (p.Thr724=) c.2426A>G c.1668A>G (p.Thr556=) c.2049A>G (p.Thr683=) c.1638A>G (p.Thr546=) c.1791A>G (p.Thr597=) n.2182A>G n.2506A>G n.2149A>G | |
| 19 | g.11123205A>T | CA505486880 | LDLR | c.2430A>T (p.Thr810=) c.*241A>T (n.*241A>T) c.2052A>T (p.Thr684=) c.2172A>T (p.Thr724=) c.2426A>T c.1668A>T (p.Thr556=) c.2049A>T (p.Thr683=) c.1638A>T (p.Thr546=) c.1791A>T (p.Thr597=) n.2182A>T n.2506A>T n.2149A>T | ClinVar dbSNP |