Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11113244_11120565del | CA2695195458 | LDLR | c.1445-34_2398+43del c.1187-34_*209+43del c.1067-34_2020+43del c.1187-34_2140+43del c.1441-34_2394+43del c.683-34_1636+43del c.1064-34_2017+43del c.806-34_1606+332del c.806-34_1759+43del n.1337-34_2150+43del n.1304-34_2300del n.1304-34_2117+43del | |
19 | g.11113288_11123238del | CA10585350 | LDLR | c.1455_2463del c.1197_*274del c.1077_2085del c.1197_2205del c.1451_2459del c.693_1701del c.1074_2082del c.816_1671del c.816_1824del n.1347_2215del n.1314_2539del n.1314_2182del | ClinVar |
19 | g.11117913_11122676del | CA10576322 | LDLR | c.2103+915_2399-498del c.1705+1701_*210-498del c.1725+915_2021-498del c.1845+915_2141-498del c.2099+915_2395-498del c.1341+915_1637-498del c.1722+915_2018-498del c.1464+915_1607-498del c.1464+915_1760-498del n.1855+1701_2151-498del n.1962+915_2475-498del n.1822+1701_2118-498del | ClinVar |
19 | g.11118198_11122020del | CA2573050614 | LDLR | c.2103+1200_2399-1154del c.1706-1894_*210-1154del c.1725+1200_2021-1154del c.1845+1200_2141-1154del c.2099+1200_2395-1154del c.1341+1200_1637-1154del c.1722+1200_2018-1154del c.1464+1200_1607-1154del c.1464+1200_1760-1154del n.1856-1894_2151-1154del n.1962+1200_2475-1154del n.1823-1894_2118-1154del | |
19 | g.11120093_11123345del | CA2695202625 | LDLR | c.2105_2569+1del c.1707_*380+1del c.1727_2191+1del c.1847_2311+1del c.2101_2565+1del c.1343_1807+1del c.1724_2188+1del c.1466_1777+1del c.1466_1930+1del n.1857_2321+1del n.1964_2645+1del n.1824_2288+1del | |
19 | g.11120091_11120523del | CA658824574 | LDLR | c.2104-1_2398+1del c.1706-1_*209+1del c.1726-1_2020+1del c.1846-1_2140+1del c.2100-1_2394+1del c.1342-1_1636+1del c.1723-1_2017+1del c.1465-1_1606+290del c.1465-1_1759+1del n.1856-1_2150+1del n.1963-1_2258del n.1823-1_2117+1del | ClinVar |
19 | g.11120091_11123345del | CA658824575 | LDLR | c.2104-1_2569+1del c.1706-1_*380+1del c.1726-1_2191+1del c.1846-1_2311+1del c.2100-1_2565+1del c.1342-1_1807+1del c.1723-1_2188+1del c.1465-1_1777+1del c.1465-1_1930+1del n.1856-1_2321+1del n.1963-1_2645+1del n.1823-1_2288+1del | ClinVar |
19 | g.11120137_11124406del | CA250475 | LDLR | c.2149_2569+1062del c.1751_*380+1062del c.1771_2191+1062del c.1891_2311+1062del c.2145_2565+1062del c.1387_1807+1062del c.1768_2188+1062del c.1510_1777+1062del c.1510_1930+1062del n.1901_2321+1062del n.2008_2645+1062del n.1868_2288+1062del | ClinVar |
19 | g.11120137_11124409del | CA916081229 | LDLR | c.2149_2569+1065del c.1751_*380+1065del c.1771_2191+1065del c.1891_2311+1065del c.2145_2565+1065del c.1387_1807+1065del c.1768_2188+1065del c.1510_1777+1065del c.1510_1930+1065del n.1901_2321+1065del n.2008_2645+1065del n.1868_2288+1065del | ClinVar |
19 | g.11120137_11124409delinsCTCAGCACTTTGGG | CA2573050615 | LDLR | c.2149_2569+1065delinsCTCAGCACTTTGGG c.1751_*380+1065delinsCTCAGCACTTTGGG c.1771_2191+1065delinsCTCAGCACTTTGGG c.1891_2311+1065delinsCTCAGCACTTTGGG c.2145_2565+1065delinsCTCAGCACTTTGGG c.1387_1807+1065delinsCTCAGCACTTTGGG c.1768_2188+1065delinsCTCAGCACTTTGGG c.1510_1777+1065delinsCTCAGCACTTTGGG c.1510_1930+1065delinsCTCAGCACTTTGGG n.1901_2321+1065delinsCTCAGCACTTTGGG n.2008_2645+1065delinsCTCAGCACTTTGGG n.1868_2288+1065delinsCTCAGCACTTTGGG | |
19 | g.11120370_11121586del | CA913189004 | LDLR | c.2246_2398+1064del c.*57_*209+1064del c.1868_2020+1064del c.1988_2140+1064del c.2242_2394+1064del c.1484_1636+1064del c.1865_2017+1064del c.1606+137_1606+1353del (n.1606+137_1606+1353del) c.1607_1759+1064del n.1998_2150+1064del n.2105_2474+847del n.1965_2117+1064del | |
19 | g.11120401C>A | CA404093524 | LDLR | c.2277C>A (p.Ser759Arg) c.*88C>A (n.*88C>A) c.1899C>A (p.Ser633Arg) c.2019C>A (p.Ser673Arg) c.2273C>A c.1515C>A (p.Ser505Arg) c.1896C>A (p.Ser632Arg) c.1606+168C>A (n.1606+168C>A) c.600C>A c.1638C>A (p.Ser546Arg) n.2029C>A n.2136C>A n.1996C>A | |
19 | g.11120401C= | CA2322775554 | LDLR | c.2277C= (p.Ser759=) c.*88C= (n.*88C=) c.1899C= (p.Ser633=) c.2019C= (p.Ser673=) c.2273C= c.1515C= (p.Ser505=) c.1896C= (p.Ser632=) c.1606+168C= (n.1606+168C=) c.600C= c.1638C= (p.Ser546=) n.2029C= n.2136C= n.1996C= | |
19 | g.11120401C>G | CA404093523 | LDLR | c.2277C>G (p.Ser759Arg) c.*88C>G (n.*88C>G) c.1899C>G (p.Ser633Arg) c.2019C>G (p.Ser673Arg) c.2273C>G c.1515C>G (p.Ser505Arg) c.1896C>G (p.Ser632Arg) c.1606+168C>G (n.1606+168C>G) c.600C>G c.1638C>G (p.Ser546Arg) n.2029C>G n.2136C>G n.1996C>G | |
19 | g.11120401C>T | CA505743473 | LDLR | c.2277C>T (p.Ser759=) c.*88C>T (n.*88C>T) c.1899C>T (p.Ser633=) c.2019C>T (p.Ser673=) c.2273C>T c.1515C>T (p.Ser505=) c.1896C>T (p.Ser632=) c.1606+168C>T (n.1606+168C>T) c.600C>T c.1638C>T (p.Ser546=) n.2029C>T n.2136C>T n.1996C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120402A>C | CA404093526 | LDLR | c.2278A>C (p.Asn760His) c.*89A>C (n.*89A>C) c.1900A>C (p.Asn634His) c.2020A>C (p.Asn674His) c.2274A>C c.1516A>C (p.Asn506His) c.1897A>C (p.Asn633His) c.1606+169A>C (n.1606+169A>C) c.601A>C c.1639A>C (p.Asn547His) n.2030A>C n.2137A>C n.1997A>C | gnomAD v4 |
19 | g.11120402A>G | CA404093528 | LDLR | c.2278A>G (p.Asn760Asp) c.*89A>G (n.*89A>G) c.1900A>G (p.Asn634Asp) c.2020A>G (p.Asn674Asp) c.2274A>G c.1516A>G (p.Asn506Asp) c.1897A>G (p.Asn633Asp) c.1606+169A>G (n.1606+169A>G) c.601A>G c.1639A>G (p.Asn547Asp) n.2030A>G n.2137A>G n.1997A>G | |
19 | g.11120402A>T | CA404093530 | LDLR | c.2278A>T (p.Asn760Tyr) c.*89A>T (n.*89A>T) c.1900A>T (p.Asn634Tyr) c.2020A>T (p.Asn674Tyr) c.2274A>T c.1516A>T (p.Asn506Tyr) c.1897A>T (p.Asn633Tyr) c.1606+169A>T (n.1606+169A>T) c.601A>T c.1639A>T (p.Asn547Tyr) n.2030A>T n.2137A>T n.1997A>T | |
19 | g.11120403A>C | CA404093532 | LDLR | c.2279A>C (p.Asn760Thr) c.*90A>C (n.*90A>C) c.1901A>C (p.Asn634Thr) c.2021A>C (p.Asn674Thr) c.2275A>C c.1517A>C (p.Asn506Thr) c.1898A>C (p.Asn633Thr) c.1606+170A>C (n.1606+170A>C) c.602A>C c.1640A>C (p.Asn547Thr) n.2031A>C n.2138A>C n.1998A>C | |
19 | g.11120403A>G | CA404093534 | LDLR | c.2279A>G (p.Asn760Ser) c.*90A>G (n.*90A>G) c.1901A>G (p.Asn634Ser) c.2021A>G (p.Asn674Ser) c.2275A>G c.1517A>G (p.Asn506Ser) c.1898A>G (p.Asn633Ser) c.1606+170A>G (n.1606+170A>G) c.602A>G c.1640A>G (p.Asn547Ser) n.2031A>G n.2138A>G n.1998A>G | |
19 | g.11120403A>T | CA404093536 | LDLR | c.2279A>T (p.Asn760Ile) c.*90A>T (n.*90A>T) c.1901A>T (p.Asn634Ile) c.2021A>T (p.Asn674Ile) c.2275A>T c.1517A>T (p.Asn506Ile) c.1898A>T (p.Asn633Ile) c.1606+170A>T (n.1606+170A>T) c.602A>T c.1640A>T (p.Asn547Ile) n.2031A>T n.2138A>T n.1998A>T | |
19 | g.11120404T>A | CA404093538 | LDLR | c.2280T>A (p.Asn760Lys) c.*91T>A (n.*91T>A) c.1902T>A (p.Asn634Lys) c.2022T>A (p.Asn674Lys) c.2276T>A c.1518T>A (p.Asn506Lys) c.1899T>A (p.Asn633Lys) c.1606+171T>A (n.1606+171T>A) c.603T>A c.1641T>A (p.Asn547Lys) n.2032T>A n.2139T>A n.1999T>A | |
19 | g.11120404T>C | CA505743475 | LDLR | c.2280T>C (p.Asn760=) c.*91T>C (n.*91T>C) c.1902T>C (p.Asn634=) c.2022T>C (p.Asn674=) c.2276T>C c.1518T>C (p.Asn506=) c.1899T>C (p.Asn633=) c.1606+171T>C (n.1606+171T>C) c.603T>C c.1641T>C (p.Asn547=) n.2032T>C n.2139T>C n.1999T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11120404T>G | CA404093539 | LDLR | c.2280T>G (p.Asn760Lys) c.*91T>G (n.*91T>G) c.1902T>G (p.Asn634Lys) c.2022T>G (p.Asn674Lys) c.2276T>G c.1518T>G (p.Asn506Lys) c.1899T>G (p.Asn633Lys) c.1606+171T>G (n.1606+171T>G) c.603T>G c.1641T>G (p.Asn547Lys) n.2032T>G n.2139T>G n.1999T>G | dbSNP |
19 | g.11120404T= | CA2322775555 | LDLR | c.2280T= (p.Asn760=) c.*91T= (n.*91T=) c.1902T= (p.Asn634=) c.2022T= (p.Asn674=) c.2276T= c.1518T= (p.Asn506=) c.1899T= (p.Asn633=) c.1606+171T= (n.1606+171T=) c.603T= c.1641T= (p.Asn547=) n.2032T= n.2139T= n.1999T= | |
19 | g.11120404dup | CA2573054705 | LDLR | c.2280dup (p.Gly761TrpfsTer?) c.*91dup (n.*91dup) c.1902dup (p.Gly635TrpfsTer?) c.2022dup (p.Gly675TrpfsTer?) c.2276dup c.1518dup (p.Gly507TrpfsTer?) c.1899dup (p.Gly634TrpfsTer?) c.1606+171dup (n.1606+171dup) c.603dup c.1641dup (p.Gly548TrpfsTer?) n.2032dup n.2139dup n.1999dup | ClinVar dbSNP |
19 | g.11120405G>A | CA038175 | LDLR | c.2281G>A (p.Gly761Ser) c.*92G>A (n.*92G>A) c.1903G>A (p.Gly635Ser) c.2023G>A (p.Gly675Ser) c.2277G>A c.1519G>A (p.Gly507Ser) c.1900G>A (p.Gly634Ser) c.1606+172G>A (n.1606+172G>A) c.604G>A c.1642G>A (p.Gly548Ser) n.2033G>A n.2140G>A n.2000G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120405G>C | CA404093544 | LDLR | c.2281G>C (p.Gly761Arg) c.*92G>C (n.*92G>C) c.1903G>C (p.Gly635Arg) c.2023G>C (p.Gly675Arg) c.2277G>C c.1519G>C (p.Gly507Arg) c.1900G>C (p.Gly634Arg) c.1606+172G>C (n.1606+172G>C) c.604G>C c.1642G>C (p.Gly548Arg) n.2033G>C n.2140G>C n.2000G>C | |
19 | g.11120405G= | CA2322775556 | LDLR | c.2281G= (p.Gly761=) c.*92G= (n.*92G=) c.1903G= (p.Gly635=) c.2023G= (p.Gly675=) c.2277G= c.1519G= (p.Gly507=) c.1900G= (p.Gly634=) c.1606+172G= (n.1606+172G=) c.604G= c.1642G= (p.Gly548=) n.2033G= n.2140G= n.2000G= | |
19 | g.11120405G>T | CA404093543 | LDLR | c.2281G>T (p.Gly761Cys) c.*92G>T (n.*92G>T) c.1903G>T (p.Gly635Cys) c.2023G>T (p.Gly675Cys) c.2277G>T c.1519G>T (p.Gly507Cys) c.1900G>T (p.Gly634Cys) c.1606+172G>T (n.1606+172G>T) c.604G>T c.1642G>T (p.Gly548Cys) n.2033G>T n.2140G>T n.2000G>T | |
19 | g.11120408_11120410del | CA2695195456 | LDLR | c.2284_2286del (p.Gly762del) c.*95_*97del (n.*95_*97del) c.1906_1908del (p.Gly636del) c.2026_2028del (p.Gly676del) c.2280_2282del c.1522_1524del (p.Gly508del) c.1903_1905del (p.Gly635del) c.1606+175_1606+177del (n.1606+175_1606+177del) c.1645_1647del (p.Gly549del) n.2036_2038del n.2143_2145del n.2003_2005del | |
19 | g.11120406G>A | CA404093545 | LDLR | c.2282G>A (p.Gly761Asp) c.*93G>A (n.*93G>A) c.1904G>A (p.Gly635Asp) c.2024G>A (p.Gly675Asp) c.2278G>A c.1520G>A (p.Gly507Asp) c.1901G>A (p.Gly634Asp) c.1606+173G>A (n.1606+173G>A) c.605G>A c.1643G>A (p.Gly548Asp) n.2034G>A n.2141G>A n.2001G>A | |
19 | g.11120406G>C | CA404093546 | LDLR | c.2282G>C (p.Gly761Ala) c.*93G>C (n.*93G>C) c.1904G>C (p.Gly635Ala) c.2024G>C (p.Gly675Ala) c.2278G>C c.1520G>C (p.Gly507Ala) c.1901G>C (p.Gly634Ala) c.1606+173G>C (n.1606+173G>C) c.605G>C c.1643G>C (p.Gly548Ala) n.2034G>C n.2141G>C n.2001G>C | |
19 | g.11120406G>T | CA404093547 | LDLR | c.2282G>T (p.Gly761Val) c.*93G>T (n.*93G>T) c.1904G>T (p.Gly635Val) c.2024G>T (p.Gly675Val) c.2278G>T c.1520G>T (p.Gly507Val) c.1901G>T (p.Gly634Val) c.1606+173G>T (n.1606+173G>T) c.605G>T c.1643G>T (p.Gly548Val) n.2034G>T n.2141G>T n.2001G>T | |
19 | g.11120407C>A | CA505743478 | LDLR | c.2283C>A (p.Gly761=) c.*94C>A (n.*94C>A) c.1905C>A (p.Gly635=) c.2025C>A (p.Gly675=) c.2279C>A c.1521C>A (p.Gly507=) c.1902C>A (p.Gly634=) c.1606+174C>A (n.1606+174C>A) c.1644C>A (p.Gly548=) n.2035C>A n.2142C>A n.2002C>A | |
19 | g.11120407C= | CA2322775557 | LDLR | c.2283C= (p.Gly761=) c.*94C= (n.*94C=) c.1905C= (p.Gly635=) c.2025C= (p.Gly675=) c.2279C= c.1521C= (p.Gly507=) c.1902C= (p.Gly634=) c.1606+174C= (n.1606+174C=) c.1644C= (p.Gly548=) n.2035C= n.2142C= n.2002C= | |
19 | g.11120407C>G | CA505743479 | LDLR | c.2283C>G (p.Gly761=) c.*94C>G (n.*94C>G) c.1905C>G (p.Gly635=) c.2025C>G (p.Gly675=) c.2279C>G c.1521C>G (p.Gly507=) c.1902C>G (p.Gly634=) c.1606+174C>G (n.1606+174C>G) c.1644C>G (p.Gly548=) n.2035C>G n.2142C>G n.2002C>G | dbSNP |
19 | g.11120407C>T | CA038192 | LDLR | c.2283C>T (p.Gly761=) c.*94C>T (n.*94C>T) c.1905C>T (p.Gly635=) c.2025C>T (p.Gly675=) c.2279C>T c.1521C>T (p.Gly507=) c.1902C>T (p.Gly634=) c.1606+174C>T (n.1606+174C>T) c.1644C>T (p.Gly548=) n.2035C>T n.2142C>T n.2002C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120407_11120408delinsCG | CA2322775558 | LDLR | c.2283_2284delinsCG (p.Gly761=) c.*94_*95delinsCG (n.*94_*95delinsCG) c.1905_1906delinsCG (p.Gly635=) c.2025_2026delinsCG (p.Gly675=) c.2279_2280delinsCG c.1521_1522delinsCG (p.Gly507=) c.1902_1903delinsCG (p.Gly634=) c.1606+174_1606+175delinsCG (n.1606+174_1606+175delinsCG) c.1644_1645delinsCG (p.Gly548=) n.2035_2036delinsCG n.2142_2143delinsCG n.2002_2003delinsCG | |
19 | g.11120408G>A | CA038201 | LDLR | c.2284G>A (p.Gly762Ser) c.*95G>A (n.*95G>A) c.1906G>A (p.Gly636Ser) c.2026G>A (p.Gly676Ser) c.2280G>A c.1522G>A (p.Gly508Ser) c.1903G>A (p.Gly635Ser) c.1606+175G>A (n.1606+175G>A) c.1645G>A (p.Gly549Ser) n.2036G>A n.2143G>A n.2003G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120408G>C | CA10585731 | LDLR | c.2284G>C (p.Gly762Arg) c.*95G>C (n.*95G>C) c.1906G>C (p.Gly636Arg) c.2026G>C (p.Gly676Arg) c.2280G>C c.1522G>C (p.Gly508Arg) c.1903G>C (p.Gly635Arg) c.1606+175G>C (n.1606+175G>C) c.1645G>C (p.Gly549Arg) n.2036G>C n.2143G>C n.2003G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120408G= | CA2322775559 | LDLR | c.2284G= (p.Gly762=) c.*95G= (n.*95G=) c.1906G= (p.Gly636=) c.2026G= (p.Gly676=) c.2280G= c.1522G= (p.Gly508=) c.1903G= (p.Gly635=) c.1606+175G= (n.1606+175G=) c.1645G= (p.Gly549=) n.2036G= n.2143G= n.2003G= | |
19 | g.11120408G>T | CA404093548 | LDLR | c.2284G>T (p.Gly762Cys) c.*95G>T (n.*95G>T) c.1906G>T (p.Gly636Cys) c.2026G>T (p.Gly676Cys) c.2280G>T c.1522G>T (p.Gly508Cys) c.1903G>T (p.Gly635Cys) c.1606+175G>T (n.1606+175G>T) c.1645G>T (p.Gly549Cys) n.2036G>T n.2143G>T n.2003G>T | ClinVar dbSNP |
19 | g.11120408_11120409del | CA645611149 | LDLR | c.2284_2285del (p.Gly762LeufsTer?) c.*95_*96del (n.*95_*96del) c.1906_1907del (p.Gly636LeufsTer?) c.2026_2027del (p.Gly676LeufsTer?) c.2280_2281del c.1522_1523del (p.Gly508LeufsTer?) c.1903_1904del (p.Gly635LeufsTer?) c.1606+175_1606+176del (n.1606+175_1606+176del) c.1645_1646del (p.Gly549LeufsTer?) n.2036_2037del n.2143_2144del n.2003_2004del | COSMIC |
19 | g.11120409del | CA10576327 | LDLR | c.2285del (p.Gly762AlafsTer?) c.*96del (n.*96del) c.1907del (p.Gly636AlafsTer?) c.2027del (p.Gly676AlafsTer?) c.2281del c.1523del (p.Gly508AlafsTer?) c.1904del (p.Gly635AlafsTer?) c.1606+176del (n.1606+176del) c.1646del (p.Gly549AlafsTer?) n.2037del n.2144del n.2004del | ClinVar dbSNP |
19 | g.11120409G>A | CA404093549 | LDLR | c.2285G>A (p.Gly762Asp) c.*96G>A (n.*96G>A) c.1907G>A (p.Gly636Asp) c.2027G>A (p.Gly676Asp) c.2281G>A c.1523G>A (p.Gly508Asp) c.1904G>A (p.Gly635Asp) c.1606+176G>A (n.1606+176G>A) c.1646G>A (p.Gly549Asp) n.2037G>A n.2144G>A n.2004G>A | gnomAD v4 |
19 | g.11120409G>C | CA038216 | LDLR | c.2285G>C (p.Gly762Ala) c.*96G>C (n.*96G>C) c.1907G>C (p.Gly636Ala) c.2027G>C (p.Gly676Ala) c.2281G>C c.1523G>C (p.Gly508Ala) c.1904G>C (p.Gly635Ala) c.1606+176G>C (n.1606+176G>C) c.1646G>C (p.Gly549Ala) n.2037G>C n.2144G>C n.2004G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120409G= | CA2322775560 | LDLR | c.2285G= (p.Gly762=) c.*96G= (n.*96G=) c.1907G= (p.Gly636=) c.2027G= (p.Gly676=) c.2281G= c.1523G= (p.Gly508=) c.1904G= (p.Gly635=) c.1606+176G= (n.1606+176G=) c.1646G= (p.Gly549=) n.2037G= n.2144G= n.2004G= | |
19 | g.11120409G>T | CA404093550 | LDLR | c.2285G>T (p.Gly762Val) c.*96G>T (n.*96G>T) c.1907G>T (p.Gly636Val) c.2027G>T (p.Gly676Val) c.2281G>T c.1523G>T (p.Gly508Val) c.1904G>T (p.Gly635Val) c.1606+176G>T (n.1606+176G>T) c.1646G>T (p.Gly549Val) n.2037G>T n.2144G>T n.2004G>T | |
19 | g.11120410C>A | CA505743481 | LDLR | c.2286C>A (p.Gly762=) c.*97C>A (n.*97C>A) c.1908C>A (p.Gly636=) c.2028C>A (p.Gly676=) c.2282C>A c.1524C>A (p.Gly508=) c.1905C>A (p.Gly635=) c.1606+177C>A (n.1606+177C>A) c.1647C>A (p.Gly549=) n.2038C>A n.2145C>A n.2005C>A | gnomAD v4 |