Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11113244_11120565del | CA2695195458 | LDLR | c.1445-34_2398+43del c.1187-34_*209+43del c.1067-34_2020+43del c.1187-34_2140+43del c.1441-34_2394+43del c.683-34_1636+43del c.1064-34_2017+43del c.806-34_1606+332del c.806-34_1759+43del n.1337-34_2150+43del n.1304-34_2300del n.1304-34_2117+43del | |
19 | g.11113288_11123238del | CA10585350 | LDLR | c.1455_2463del c.1197_*274del c.1077_2085del c.1197_2205del c.1451_2459del c.693_1701del c.1074_2082del c.816_1671del c.816_1824del n.1347_2215del n.1314_2539del n.1314_2182del | ClinVar |
19 | g.11117913_11122676del | CA10576322 | LDLR | c.2103+915_2399-498del c.1705+1701_*210-498del c.1725+915_2021-498del c.1845+915_2141-498del c.2099+915_2395-498del c.1341+915_1637-498del c.1722+915_2018-498del c.1464+915_1607-498del c.1464+915_1760-498del n.1855+1701_2151-498del n.1962+915_2475-498del n.1822+1701_2118-498del | ClinVar |
19 | g.11118198_11122020del | CA2573050614 | LDLR | c.2103+1200_2399-1154del c.1706-1894_*210-1154del c.1725+1200_2021-1154del c.1845+1200_2141-1154del c.2099+1200_2395-1154del c.1341+1200_1637-1154del c.1722+1200_2018-1154del c.1464+1200_1607-1154del c.1464+1200_1760-1154del n.1856-1894_2151-1154del n.1962+1200_2475-1154del n.1823-1894_2118-1154del | |
19 | g.11120093_11123345del | CA2695202625 | LDLR | c.2105_2569+1del c.1707_*380+1del c.1727_2191+1del c.1847_2311+1del c.2101_2565+1del c.1343_1807+1del c.1724_2188+1del c.1466_1777+1del c.1466_1930+1del n.1857_2321+1del n.1964_2645+1del n.1824_2288+1del | |
19 | g.11120091_11120523del | CA658824574 | LDLR | c.2104-1_2398+1del c.1706-1_*209+1del c.1726-1_2020+1del c.1846-1_2140+1del c.2100-1_2394+1del c.1342-1_1636+1del c.1723-1_2017+1del c.1465-1_1606+290del c.1465-1_1759+1del n.1856-1_2150+1del n.1963-1_2258del n.1823-1_2117+1del | ClinVar |
19 | g.11120091_11123345del | CA658824575 | LDLR | c.2104-1_2569+1del c.1706-1_*380+1del c.1726-1_2191+1del c.1846-1_2311+1del c.2100-1_2565+1del c.1342-1_1807+1del c.1723-1_2188+1del c.1465-1_1777+1del c.1465-1_1930+1del n.1856-1_2321+1del n.1963-1_2645+1del n.1823-1_2288+1del | ClinVar |
19 | g.11120137_11124406del | CA250475 | LDLR | c.2149_2569+1062del c.1751_*380+1062del c.1771_2191+1062del c.1891_2311+1062del c.2145_2565+1062del c.1387_1807+1062del c.1768_2188+1062del c.1510_1777+1062del c.1510_1930+1062del n.1901_2321+1062del n.2008_2645+1062del n.1868_2288+1062del | ClinVar |
19 | g.11120137_11124409del | CA916081229 | LDLR | c.2149_2569+1065del c.1751_*380+1065del c.1771_2191+1065del c.1891_2311+1065del c.2145_2565+1065del c.1387_1807+1065del c.1768_2188+1065del c.1510_1777+1065del c.1510_1930+1065del n.1901_2321+1065del n.2008_2645+1065del n.1868_2288+1065del | ClinVar |
19 | g.11120137_11124409delinsCTCAGCACTTTGGG | CA2573050615 | LDLR | c.2149_2569+1065delinsCTCAGCACTTTGGG c.1751_*380+1065delinsCTCAGCACTTTGGG c.1771_2191+1065delinsCTCAGCACTTTGGG c.1891_2311+1065delinsCTCAGCACTTTGGG c.2145_2565+1065delinsCTCAGCACTTTGGG c.1387_1807+1065delinsCTCAGCACTTTGGG c.1768_2188+1065delinsCTCAGCACTTTGGG c.1510_1777+1065delinsCTCAGCACTTTGGG c.1510_1930+1065delinsCTCAGCACTTTGGG n.1901_2321+1065delinsCTCAGCACTTTGGG n.2008_2645+1065delinsCTCAGCACTTTGGG n.1868_2288+1065delinsCTCAGCACTTTGGG | |
19 | g.11120370_11121586del | CA913189004 | LDLR | c.2246_2398+1064del c.*57_*209+1064del c.1868_2020+1064del c.1988_2140+1064del c.2242_2394+1064del c.1484_1636+1064del c.1865_2017+1064del c.1606+137_1606+1353del (n.1606+137_1606+1353del) c.1607_1759+1064del n.1998_2150+1064del n.2105_2474+847del n.1965_2117+1064del | ClinVar |
19 | g.11120393_11120396del | CA2695228171 | LDLR | c.2269_2272del (p.Thr757Ter) c.*80_*83del (n.*80_*83del) c.1891_1894del (p.Thr631Ter) c.2011_2014del (p.Thr671Ter) c.2265_2268del c.1507_1510del (p.Thr503Ter) c.1888_1891del (p.Thr630Ter) c.1606+160_1606+163del (n.1606+160_1606+163del) c.592_595del c.1630_1633del (p.Thr544Ter) n.2021_2024del n.2128_2131del n.1988_1991del | |
19 | g.11120393_11120395delinsACC | CA2322775549 | LDLR | c.2269_2271delinsACC (p.Thr757=) c.*80_*82delinsACC (n.*80_*82delinsACC) c.1891_1893delinsACC (p.Thr631=) c.2011_2013delinsACC (p.Thr671=) c.2265_2267delinsACC c.1507_1509delinsACC (p.Thr503=) c.1888_1890delinsACC (p.Thr630=) c.1606+160_1606+162delinsACC (n.1606+160_1606+162delinsACC) c.592_594delinsACC c.1630_1632delinsACC (p.Thr544=) n.2021_2023delinsACC n.2128_2130delinsACC n.1988_1990delinsACC | |
19 | g.11120396del | CA10585729 | LDLR | c.2272del (p.Leu758Ter) c.*83del (n.*83del) c.1894del (p.Leu632Ter) c.2014del (p.Leu672Ter) c.2268del c.1510del (p.Leu504Ter) c.1891del (p.Leu631Ter) c.1606+163del (n.1606+163del) c.595del c.1633del (p.Leu545Ter) n.2024del n.2131del n.1991del | ClinVar dbSNP |
19 | g.11120395_11120396del | CA10585728 | LDLR | c.2271_2272del (p.Leu758GlufsTer?) c.*82_*83del (n.*82_*83del) c.1893_1894del (p.Leu632GlufsTer?) c.2013_2014del (p.Leu672GlufsTer?) c.2267_2268del c.1509_1510del (p.Leu504GlufsTer?) c.1890_1891del (p.Leu631GlufsTer?) c.1606+162_1606+163del (n.1606+162_1606+163del) c.594_595del c.1632_1633del (p.Leu545GlufsTer?) n.2023_2024del n.2130_2131del n.1990_1991del | ClinVar dbSNP |
19 | g.11120395C>A | CA038143 | LDLR | c.2271C>A (p.Thr757=) c.*82C>A (n.*82C>A) c.1893C>A (p.Thr631=) c.2013C>A (p.Thr671=) c.2267C>A c.1509C>A (p.Thr503=) c.1890C>A (p.Thr630=) c.1606+162C>A (n.1606+162C>A) c.594C>A c.1632C>A (p.Thr544=) n.2023C>A n.2130C>A n.1990C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120395C= | CA2322775550 | LDLR | c.2271C= (p.Thr757=) c.*82C= (n.*82C=) c.1893C= (p.Thr631=) c.2013C= (p.Thr671=) c.2267C= c.1509C= (p.Thr503=) c.1890C= (p.Thr630=) c.1606+162C= (n.1606+162C=) c.594C= c.1632C= (p.Thr544=) n.2023C= n.2130C= n.1990C= | |
19 | g.11120395C>G | CA505743465 | LDLR | c.2271C>G (p.Thr757=) c.*82C>G (n.*82C>G) c.1893C>G (p.Thr631=) c.2013C>G (p.Thr671=) c.2267C>G c.1509C>G (p.Thr503=) c.1890C>G (p.Thr630=) c.1606+162C>G (n.1606+162C>G) c.594C>G c.1632C>G (p.Thr544=) n.2023C>G n.2130C>G n.1990C>G | gnomAD v4 |
19 | g.11120395C>T | CA505743466 | LDLR | c.2271C>T (p.Thr757=) c.*82C>T (n.*82C>T) c.1893C>T (p.Thr631=) c.2013C>T (p.Thr671=) c.2267C>T c.1509C>T (p.Thr503=) c.1890C>T (p.Thr630=) c.1606+162C>T (n.1606+162C>T) c.594C>T c.1632C>T (p.Thr544=) n.2023C>T n.2130C>T n.1990C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11120396C>A | CA404093502 | LDLR | c.2272C>A (p.Leu758Met) c.*83C>A (n.*83C>A) c.1894C>A (p.Leu632Met) c.2014C>A (p.Leu672Met) c.2268C>A c.1510C>A (p.Leu504Met) c.1891C>A (p.Leu631Met) c.1606+163C>A (n.1606+163C>A) c.595C>A c.1633C>A (p.Leu545Met) n.2024C>A n.2131C>A n.1991C>A | |
19 | g.11120396C>G | CA404093504 | LDLR | c.2272C>G (p.Leu758Val) c.*83C>G (n.*83C>G) c.1894C>G (p.Leu632Val) c.2014C>G (p.Leu672Val) c.2268C>G c.1510C>G (p.Leu504Val) c.1891C>G (p.Leu631Val) c.1606+163C>G (n.1606+163C>G) c.595C>G c.1633C>G (p.Leu545Val) n.2024C>G n.2131C>G n.1991C>G | |
19 | g.11120396C>T | CA505743467 | LDLR | c.2272C>T (p.Leu758=) c.*83C>T (n.*83C>T) c.1894C>T (p.Leu632=) c.2014C>T (p.Leu672=) c.2268C>T c.1510C>T (p.Leu504=) c.1891C>T (p.Leu631=) c.1606+163C>T (n.1606+163C>T) c.595C>T c.1633C>T (p.Leu545=) n.2024C>T n.2131C>T n.1991C>T | ClinVar |
19 | g.11120396_11120397delinsCT | CA2322775551 | LDLR | c.2272_2273delinsCT (p.Leu758=) c.*83_*84delinsCT (n.*83_*84delinsCT) c.1894_1895delinsCT (p.Leu632=) c.2014_2015delinsCT (p.Leu672=) c.2268_2269delinsCT c.1510_1511delinsCT (p.Leu504=) c.1891_1892delinsCT (p.Leu631=) c.1606+163_1606+164delinsCT (n.1606+163_1606+164delinsCT) c.595_596delinsCT c.1633_1634delinsCT (p.Leu545=) n.2024_2025delinsCT n.2131_2132delinsCT n.1991_1992delinsCT | |
19 | g.11120397del | CA10585730 | LDLR | c.2273del (p.Leu758ArgfsTer?) c.*84del (n.*84del) c.1895del (p.Leu632ArgfsTer?) c.2015del (p.Leu672ArgfsTer?) c.2269del c.1511del (p.Leu504ArgfsTer?) c.1892del (p.Leu631ArgfsTer?) c.1606+164del (n.1606+164del) c.596del c.1634del (p.Leu545ArgfsTer?) n.2025del n.2132del n.1992del | ClinVar dbSNP |
19 | g.11120397T>A | CA404093510 | LDLR | c.2273T>A (p.Leu758Gln) c.*84T>A (n.*84T>A) c.1895T>A (p.Leu632Gln) c.2015T>A (p.Leu672Gln) c.2269T>A c.1511T>A (p.Leu504Gln) c.1892T>A (p.Leu631Gln) c.1606+164T>A (n.1606+164T>A) c.596T>A c.1634T>A (p.Leu545Gln) n.2025T>A n.2132T>A n.1992T>A | |
19 | g.11120397T>C | CA404093509 | LDLR | c.2273T>C (p.Leu758Pro) c.*84T>C (n.*84T>C) c.1895T>C (p.Leu632Pro) c.2015T>C (p.Leu672Pro) c.2269T>C c.1511T>C (p.Leu504Pro) c.1892T>C (p.Leu631Pro) c.1606+164T>C (n.1606+164T>C) c.596T>C c.1634T>C (p.Leu545Pro) n.2025T>C n.2132T>C n.1992T>C | |
19 | g.11120397T>G | CA404093506 | LDLR | c.2273T>G (p.Leu758Arg) c.*84T>G (n.*84T>G) c.1895T>G (p.Leu632Arg) c.2015T>G (p.Leu672Arg) c.2269T>G c.1511T>G (p.Leu504Arg) c.1892T>G (p.Leu631Arg) c.1606+164T>G (n.1606+164T>G) c.596T>G c.1634T>G (p.Leu545Arg) n.2025T>G n.2132T>G n.1992T>G | |
19 | g.11120398G>A | CA505743471 | LDLR | c.2274G>A (p.Leu758=) c.*85G>A (n.*85G>A) c.1896G>A (p.Leu632=) c.2016G>A (p.Leu672=) c.2270G>A c.1512G>A (p.Leu504=) c.1893G>A (p.Leu631=) c.1606+165G>A (n.1606+165G>A) c.597G>A c.1635G>A (p.Leu545=) n.2026G>A n.2133G>A n.1993G>A | ClinVar dbSNP |
19 | g.11120398G>C | CA505743470 | LDLR | c.2274G>C (p.Leu758=) c.*85G>C (n.*85G>C) c.1896G>C (p.Leu632=) c.2016G>C (p.Leu672=) c.2270G>C c.1512G>C (p.Leu504=) c.1893G>C (p.Leu631=) c.1606+165G>C (n.1606+165G>C) c.597G>C c.1635G>C (p.Leu545=) n.2026G>C n.2133G>C n.1993G>C | ClinVar COSMIC |
19 | g.11120398G>T | CA505743469 | LDLR | c.2274G>T (p.Leu758=) c.*85G>T (n.*85G>T) c.1896G>T (p.Leu632=) c.2016G>T (p.Leu672=) c.2270G>T c.1512G>T (p.Leu504=) c.1893G>T (p.Leu631=) c.1606+165G>T (n.1606+165G>T) c.597G>T c.1635G>T (p.Leu545=) n.2026G>T n.2133G>T n.1993G>T | |
19 | g.11120399A= | CA2322775552 | LDLR | c.2275A= (p.Ser759=) c.*86A= (n.*86A=) c.1897A= (p.Ser633=) c.2017A= (p.Ser673=) c.2271A= c.1513A= (p.Ser505=) c.1894A= (p.Ser632=) c.1606+166A= (n.1606+166A=) c.598A= c.1636A= (p.Ser546=) n.2027A= n.2134A= n.1994A= | |
19 | g.11120399A>C | CA038161 | LDLR | c.2275A>C (p.Ser759Arg) c.*86A>C (n.*86A>C) c.1897A>C (p.Ser633Arg) c.2017A>C (p.Ser673Arg) c.2271A>C c.1513A>C (p.Ser505Arg) c.1894A>C (p.Ser632Arg) c.1606+166A>C (n.1606+166A>C) c.598A>C c.1636A>C (p.Ser546Arg) n.2027A>C n.2134A>C n.1994A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120399A>G | CA404093513 | LDLR | c.2275A>G (p.Ser759Gly) c.*86A>G (n.*86A>G) c.1897A>G (p.Ser633Gly) c.2017A>G (p.Ser673Gly) c.2271A>G c.1513A>G (p.Ser505Gly) c.1894A>G (p.Ser632Gly) c.1606+166A>G (n.1606+166A>G) c.598A>G c.1636A>G (p.Ser546Gly) n.2027A>G n.2134A>G n.1994A>G | |
19 | g.11120399A>T | CA404093515 | LDLR | c.2275A>T (p.Ser759Cys) c.*86A>T (n.*86A>T) c.1897A>T (p.Ser633Cys) c.2017A>T (p.Ser673Cys) c.2271A>T c.1513A>T (p.Ser505Cys) c.1894A>T (p.Ser632Cys) c.1606+166A>T (n.1606+166A>T) c.598A>T c.1636A>T (p.Ser546Cys) n.2027A>T n.2134A>T n.1994A>T | |
19 | g.11120400G>A | CA404093517 | LDLR | c.2276G>A (p.Ser759Asn) c.*87G>A (n.*87G>A) c.1898G>A (p.Ser633Asn) c.2018G>A (p.Ser673Asn) c.2272G>A c.1514G>A (p.Ser505Asn) c.1895G>A (p.Ser632Asn) c.1606+167G>A (n.1606+167G>A) c.599G>A c.1637G>A (p.Ser546Asn) n.2028G>A n.2135G>A n.1995G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120400G>C | CA404093519 | LDLR | c.2276G>C (p.Ser759Thr) c.*87G>C (n.*87G>C) c.1898G>C (p.Ser633Thr) c.2018G>C (p.Ser673Thr) c.2272G>C c.1514G>C (p.Ser505Thr) c.1895G>C (p.Ser632Thr) c.1606+167G>C (n.1606+167G>C) c.599G>C c.1637G>C (p.Ser546Thr) n.2028G>C n.2135G>C n.1995G>C | |
19 | g.11120400G= | CA2322775553 | LDLR | c.2276G= (p.Ser759=) c.*87G= (n.*87G=) c.1898G= (p.Ser633=) c.2018G= (p.Ser673=) c.2272G= c.1514G= (p.Ser505=) c.1895G= (p.Ser632=) c.1606+167G= (n.1606+167G=) c.599G= c.1637G= (p.Ser546=) n.2028G= n.2135G= n.1995G= | |
19 | g.11120400G>T | CA404093520 | LDLR | c.2276G>T (p.Ser759Ile) c.*87G>T (n.*87G>T) c.1898G>T (p.Ser633Ile) c.2018G>T (p.Ser673Ile) c.2272G>T c.1514G>T (p.Ser505Ile) c.1895G>T (p.Ser632Ile) c.1606+167G>T (n.1606+167G>T) c.599G>T c.1637G>T (p.Ser546Ile) n.2028G>T n.2135G>T n.1995G>T | gnomAD v4 |
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 |
19 | g.11120410C= | CA2322775562 | LDLR | c.2286C= (p.Gly762=) c.*97C= (n.*97C=) c.1908C= (p.Gly636=) c.2028C= (p.Gly676=) c.2282C= c.1524C= (p.Gly508=) c.1905C= (p.Gly635=) c.1606+177C= (n.1606+177C=) c.1647C= (p.Gly549=) n.2038C= n.2145C= n.2005C= | |
19 | g.11120410C>G | CA505743482 | LDLR | c.2286C>G (p.Gly762=) c.*97C>G (n.*97C>G) c.1908C>G (p.Gly636=) c.2028C>G (p.Gly676=) c.2282C>G c.1524C>G (p.Gly508=) c.1905C>G (p.Gly635=) c.1606+177C>G (n.1606+177C>G) c.1647C>G (p.Gly549=) n.2038C>G n.2145C>G n.2005C>G | dbSNP |
19 | g.11120410C>T | CA505743483 | LDLR | c.2286C>T (p.Gly762=) c.*97C>T (n.*97C>T) c.1908C>T (p.Gly636=) c.2028C>T (p.Gly676=) c.2282C>T c.1524C>T (p.Gly508=) c.1905C>T (p.Gly635=) c.1606+177C>T (n.1606+177C>T) c.1647C>T (p.Gly549=) n.2038C>T n.2145C>T n.2005C>T | |
19 | g.11120410dup | CA645611150 | LDLR | c.2286dup (p.Cys763LeufsTer?) c.*97dup (n.*97dup) c.1908dup (p.Cys637LeufsTer?) c.2028dup (p.Cys677LeufsTer?) c.2282dup c.1524dup (p.Cys509LeufsTer?) c.1905dup (p.Cys636LeufsTer?) c.1606+177dup (n.1606+177dup) c.1647dup (p.Cys550LeufsTer?) n.2038dup n.2145dup n.2005dup | COSMIC |
19 | g.11120410_11120422delinsCTGCCAGTATCTG | CA2322775561 | LDLR | c.2286_2298delinsCTGCCAGTATCTG (p.Gly762=) c.*97_*109delinsCTGCCAGTATCTG (n.*97_*109delinsCTGCCAGTATCTG) c.1908_1920delinsCTGCCAGTATCTG (p.Gly636=) c.2028_2040delinsCTGCCAGTATCTG (p.Gly676=) c.2282_2294delinsCTGCCAGTATCTG c.1524_1536delinsCTGCCAGTATCTG (p.Gly508=) c.1905_1917delinsCTGCCAGTATCTG (p.Gly635=) c.1606+177_1606+189delinsCTGCCAGTATCTG (n.1606+177_1606+189delinsCTGCCAGTATCTG) c.1647_1659delinsCTGCCAGTATCTG (p.Gly549=) n.2038_2050delinsCTGCCAGTATCTG n.2145_2157delinsCTGCCAGTATCTG n.2005_2017delinsCTGCCAGTATCTG | |
19 | g.11120411T>A | CA404093551 | LDLR | c.2287T>A (p.Cys763Ser) c.*98T>A (n.*98T>A) c.1909T>A (p.Cys637Ser) c.2029T>A (p.Cys677Ser) c.2283T>A c.1525T>A (p.Cys509Ser) c.1906T>A (p.Cys636Ser) c.1606+178T>A (n.1606+178T>A) c.1648T>A (p.Cys550Ser) n.2039T>A n.2146T>A n.2006T>A | |
19 | g.11120411T>C | CA038234 | LDLR | c.2287T>C (p.Cys763Arg) c.*98T>C (n.*98T>C) c.1909T>C (p.Cys637Arg) c.2029T>C (p.Cys677Arg) c.2283T>C c.1525T>C (p.Cys509Arg) c.1906T>C (p.Cys636Arg) c.1606+178T>C (n.1606+178T>C) c.1648T>C (p.Cys550Arg) n.2039T>C n.2146T>C n.2006T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120411T>G | CA404093553 | LDLR | c.2287T>G (p.Cys763Gly) c.*98T>G (n.*98T>G) c.1909T>G (p.Cys637Gly) c.2029T>G (p.Cys677Gly) c.2283T>G c.1525T>G (p.Cys509Gly) c.1906T>G (p.Cys636Gly) c.1606+178T>G (n.1606+178T>G) c.1648T>G (p.Cys550Gly) n.2039T>G n.2146T>G n.2006T>G | |
19 | g.11120411T= | CA2322775563 | LDLR | c.2287T= (p.Cys763=) c.*98T= (n.*98T=) c.1909T= (p.Cys637=) c.2029T= (p.Cys677=) c.2283T= c.1525T= (p.Cys509=) c.1906T= (p.Cys636=) c.1606+178T= (n.1606+178T=) c.1648T= (p.Cys550=) n.2039T= n.2146T= n.2006T= | |
19 | g.11120411_11120424delinsTGCCAGTATCTGTG | CA2322775564 | LDLR | c.2287_2300delinsTGCCAGTATCTGTG (p.Cys763=) c.*98_*111delinsTGCCAGTATCTGTG (n.*98_*111delinsTGCCAGTATCTGTG) c.1909_1922delinsTGCCAGTATCTGTG (p.Cys637=) c.2029_2042delinsTGCCAGTATCTGTG (p.Cys677=) c.2283_2296delinsTGCCAGTATCTGTG c.1525_1538delinsTGCCAGTATCTGTG (p.Cys509=) c.1906_1919delinsTGCCAGTATCTGTG (p.Cys636=) c.1606+178_1606+191delinsTGCCAGTATCTGTG (n.1606+178_1606+191delinsTGCCAGTATCTGTG) c.1648_1661delinsTGCCAGTATCTGTG (p.Cys550=) n.2039_2052delinsTGCCAGTATCTGTG n.2146_2159delinsTGCCAGTATCTGTG n.2006_2019delinsTGCCAGTATCTGTG | |
19 | g.11120415_11120426del | CA10585735 | LDLR | c.2291_2302del (p.Gln764_Cys767del) c.*102_*113del (n.*102_*113del) c.1913_1924del (p.Gln638_Cys641del) c.2033_2044del (p.Gln678_Cys681del) c.2287_2298del c.1529_1540del (p.Gln510_Cys513del) c.1910_1921del (p.Gln637_Cys640del) c.1606+182_1606+193del (n.1606+182_1606+193del) c.1652_1663del (p.Gln551_Cys554del) n.2043_2054del n.2150_2161del n.2010_2021del | ClinVar dbSNP |
19 | g.11120412G>A | CA10585732 | LDLR | c.2288G>A (p.Cys763Tyr) c.*99G>A (n.*99G>A) c.1910G>A (p.Cys637Tyr) c.2030G>A (p.Cys677Tyr) c.2284G>A c.1526G>A (p.Cys509Tyr) c.1907G>A (p.Cys636Tyr) c.1606+179G>A (n.1606+179G>A) c.1649G>A (p.Cys550Tyr) n.2040G>A n.2147G>A n.2007G>A | ClinVar dbSNP |
19 | g.11120412G>C | CA404093559 | LDLR | c.2288G>C (p.Cys763Ser) c.*99G>C (n.*99G>C) c.1910G>C (p.Cys637Ser) c.2030G>C (p.Cys677Ser) c.2284G>C c.1526G>C (p.Cys509Ser) c.1907G>C (p.Cys636Ser) c.1606+179G>C (n.1606+179G>C) c.1649G>C (p.Cys550Ser) n.2040G>C n.2147G>C n.2007G>C | |
19 | g.11120412G= | CA2322775565 | LDLR | c.2288G= (p.Cys763=) c.*99G= (n.*99G=) c.1910G= (p.Cys637=) c.2030G= (p.Cys677=) c.2284G= c.1526G= (p.Cys509=) c.1907G= (p.Cys636=) c.1606+179G= (n.1606+179G=) c.1649G= (p.Cys550=) n.2040G= n.2147G= n.2007G= | |
19 | g.11120412G>T | CA10576328 | LDLR | c.2288G>T (p.Cys763Phe) c.*99G>T (n.*99G>T) c.1910G>T (p.Cys637Phe) c.2030G>T (p.Cys677Phe) c.2284G>T c.1526G>T (p.Cys509Phe) c.1907G>T (p.Cys636Phe) c.1606+179G>T (n.1606+179G>T) c.1649G>T (p.Cys550Phe) n.2040G>T n.2147G>T n.2007G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120412_11120424del | CA10585733 | LDLR | c.2288_2300del (p.Cys763SerfsTer28) c.*99_*111del (n.*99_*111del) c.1910_1922del (p.Cys637SerfsTer28) c.2030_2042del (p.Cys677SerfsTer28) c.2284_2296del c.1526_1538del (p.Cys509SerfsTer28) c.1907_1919del (p.Cys636SerfsTer28) c.1606+179_1606+191del (n.1606+179_1606+191del) c.1649_1661del (p.Cys550SerfsTer28) n.2040_2052del n.2147_2159del n.2007_2019del | ClinVar dbSNP |
19 | g.11120413C>A | CA404093566 | LDLR | c.2289C>A (p.Cys763Ter) c.*100C>A (n.*100C>A) c.1911C>A (p.Cys637Ter) c.2031C>A (p.Cys677Ter) c.2285C>A c.1527C>A (p.Cys509Ter) c.1908C>A (p.Cys636Ter) c.1606+180C>A (n.1606+180C>A) c.1650C>A (p.Cys550Ter) n.2041C>A n.2148C>A n.2008C>A | ClinVar |
19 | g.11120413C>G | CA404093564 | LDLR | c.2289C>G (p.Cys763Trp) c.*100C>G (n.*100C>G) c.1911C>G (p.Cys637Trp) c.2031C>G (p.Cys677Trp) c.2285C>G c.1527C>G (p.Cys509Trp) c.1908C>G (p.Cys636Trp) c.1606+180C>G (n.1606+180C>G) c.1650C>G (p.Cys550Trp) n.2041C>G n.2148C>G n.2008C>G | |
19 | g.11120413C>T | CA505743485 | LDLR | c.2289C>T (p.Cys763=) c.*100C>T (n.*100C>T) c.1911C>T (p.Cys637=) c.2031C>T (p.Cys677=) c.2285C>T c.1527C>T (p.Cys509=) c.1908C>T (p.Cys636=) c.1606+180C>T (n.1606+180C>T) c.1650C>T (p.Cys550=) n.2041C>T n.2148C>T n.2008C>T | |
19 | g.11120414C>A | CA404093571 | LDLR | c.2290C>A (p.Gln764Lys) c.*101C>A (n.*101C>A) c.1912C>A (p.Gln638Lys) c.2032C>A (p.Gln678Lys) c.2286C>A c.1528C>A (p.Gln510Lys) c.1909C>A (p.Gln637Lys) c.1606+181C>A (n.1606+181C>A) c.1651C>A (p.Gln551Lys) n.2042C>A n.2149C>A n.2009C>A | |
19 | g.11120414C= | CA2322775566 | LDLR | c.2290C= (p.Gln764=) c.*101C= (n.*101C=) c.1912C= (p.Gln638=) c.2032C= (p.Gln678=) c.2286C= c.1528C= (p.Gln510=) c.1909C= (p.Gln637=) c.1606+181C= (n.1606+181C=) c.1651C= (p.Gln551=) n.2042C= n.2149C= n.2009C= | |
19 | g.11120414C>G | CA404093568 | LDLR | c.2290C>G (p.Gln764Glu) c.*101C>G (n.*101C>G) c.1912C>G (p.Gln638Glu) c.2032C>G (p.Gln678Glu) c.2286C>G c.1528C>G (p.Gln510Glu) c.1909C>G (p.Gln637Glu) c.1606+181C>G (n.1606+181C>G) c.1651C>G (p.Gln551Glu) n.2042C>G n.2149C>G n.2009C>G | |
19 | g.11120414C>T | CA10585734 | LDLR | c.2290C>T (p.Gln764Ter) c.*101C>T (n.*101C>T) c.1912C>T (p.Gln638Ter) c.2032C>T (p.Gln678Ter) c.2286C>T c.1528C>T (p.Gln510Ter) c.1909C>T (p.Gln637Ter) c.1606+181C>T (n.1606+181C>T) c.1651C>T (p.Gln551Ter) n.2042C>T n.2149C>T n.2009C>T | ClinVar dbSNP |
19 | g.11120415A= | CA2322775567 | LDLR | c.2291A= (p.Gln764=) c.*102A= (n.*102A=) c.1913A= (p.Gln638=) c.2033A= (p.Gln678=) c.2287A= c.1529A= (p.Gln510=) c.1910A= (p.Gln637=) c.1606+182A= (n.1606+182A=) c.1652A= (p.Gln551=) n.2043A= n.2150A= n.2010A= | |
19 | g.11120415A>C | CA404093573 | LDLR | c.2291A>C (p.Gln764Pro) c.*102A>C (n.*102A>C) c.1913A>C (p.Gln638Pro) c.2033A>C (p.Gln678Pro) c.2287A>C c.1529A>C (p.Gln510Pro) c.1910A>C (p.Gln637Pro) c.1606+182A>C (n.1606+182A>C) c.1652A>C (p.Gln551Pro) n.2043A>C n.2150A>C n.2010A>C | dbSNP |
19 | g.11120415A>G | CA404093575 | LDLR | c.2291A>G (p.Gln764Arg) c.*102A>G (n.*102A>G) c.1913A>G (p.Gln638Arg) c.2033A>G (p.Gln678Arg) c.2287A>G c.1529A>G (p.Gln510Arg) c.1910A>G (p.Gln637Arg) c.1606+182A>G (n.1606+182A>G) c.1652A>G (p.Gln551Arg) n.2043A>G n.2150A>G n.2010A>G | gnomAD v4 |
19 | g.11120415A>T | CA404093577 | LDLR | c.2291A>T (p.Gln764Leu) c.*102A>T (n.*102A>T) c.1913A>T (p.Gln638Leu) c.2033A>T (p.Gln678Leu) c.2287A>T c.1529A>T (p.Gln510Leu) c.1910A>T (p.Gln637Leu) c.1606+182A>T (n.1606+182A>T) c.1652A>T (p.Gln551Leu) n.2043A>T n.2150A>T n.2010A>T | |
19 | g.11120416G>A | CA505743487 | LDLR | c.2292G>A (p.Gln764=) c.*103G>A (n.*103G>A) c.1914G>A (p.Gln638=) c.2034G>A (p.Gln678=) c.2288G>A c.1530G>A (p.Gln510=) c.1911G>A (p.Gln637=) c.1606+183G>A (n.1606+183G>A) c.1653G>A (p.Gln551=) n.2044G>A n.2151G>A n.2011G>A | |
19 | g.11120416G>C | CA404093579 | LDLR | c.2292G>C (p.Gln764His) c.*103G>C (n.*103G>C) c.1914G>C (p.Gln638His) c.2034G>C (p.Gln678His) c.2288G>C c.1530G>C (p.Gln510His) c.1911G>C (p.Gln637His) c.1606+183G>C (n.1606+183G>C) c.1653G>C (p.Gln551His) n.2044G>C n.2151G>C n.2011G>C | |
19 | g.11120416G= | CA2322775568 | LDLR | c.2292G= (p.Gln764=) c.*103G= (n.*103G=) c.1914G= (p.Gln638=) c.2034G= (p.Gln678=) c.2288G= c.1530G= (p.Gln510=) c.1911G= (p.Gln637=) c.1606+183G= (n.1606+183G=) c.1653G= (p.Gln551=) n.2044G= n.2151G= n.2011G= | |
19 | g.11120416G>T | CA305302735 | LDLR | c.2292G>T (p.Gln764His) c.*103G>T (n.*103G>T) c.1914G>T (p.Gln638His) c.2034G>T (p.Gln678His) c.2288G>T c.1530G>T (p.Gln510His) c.1911G>T (p.Gln637His) c.1606+183G>T (n.1606+183G>T) c.1653G>T (p.Gln551His) n.2044G>T n.2151G>T n.2011G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11120417T>A | CA404093584 | LDLR | c.2293T>A (p.Tyr765Asn) c.*104T>A (n.*104T>A) c.1915T>A (p.Tyr639Asn) c.2035T>A (p.Tyr679Asn) c.2289T>A c.1531T>A (p.Tyr511Asn) c.1912T>A (p.Tyr638Asn) c.1606+184T>A (n.1606+184T>A) c.1654T>A (p.Tyr552Asn) n.2045T>A n.2152T>A n.2012T>A | |
19 | g.11120417T>C | CA404093586 | LDLR | c.2293T>C (p.Tyr765His) c.*104T>C (n.*104T>C) c.1915T>C (p.Tyr639His) c.2035T>C (p.Tyr679His) c.2289T>C c.1531T>C (p.Tyr511His) c.1912T>C (p.Tyr638His) c.1606+184T>C (n.1606+184T>C) c.1654T>C (p.Tyr552His) n.2045T>C n.2152T>C n.2012T>C | |
19 | g.11120417T>G | CA404093588 | LDLR | c.2293T>G (p.Tyr765Asp) c.*104T>G (n.*104T>G) c.1915T>G (p.Tyr639Asp) c.2035T>G (p.Tyr679Asp) c.2289T>G c.1531T>G (p.Tyr511Asp) c.1912T>G (p.Tyr638Asp) c.1606+184T>G (n.1606+184T>G) c.1654T>G (p.Tyr552Asp) n.2045T>G n.2152T>G n.2012T>G | |
19 | g.11120417T= | CA2322775569 | LDLR | c.2293T= (p.Tyr765=) c.*104T= (n.*104T=) c.1915T= (p.Tyr639=) c.2035T= (p.Tyr679=) c.2289T= c.1531T= (p.Tyr511=) c.1912T= (p.Tyr638=) c.1606+184T= (n.1606+184T=) c.1654T= (p.Tyr552=) n.2045T= n.2152T= n.2012T= | |
19 | g.11120417dup | CA10585736 | LDLR | c.2293dup (p.Tyr765LeufsTer?) c.*104dup (n.*104dup) c.1915dup (p.Tyr639LeufsTer?) c.2035dup (p.Tyr679LeufsTer?) c.2289dup c.1531dup (p.Tyr511LeufsTer?) c.1912dup (p.Tyr638LeufsTer?) c.1606+184dup (n.1606+184dup) c.1654dup (p.Tyr552LeufsTer?) n.2045dup n.2152dup n.2012dup | ClinVar dbSNP |
19 | g.11120418A>C | CA404093594 | LDLR | c.2294A>C (p.Tyr765Ser) c.*105A>C (n.*105A>C) c.1916A>C (p.Tyr639Ser) c.2036A>C (p.Tyr679Ser) c.2290A>C c.1532A>C (p.Tyr511Ser) c.1913A>C (p.Tyr638Ser) c.1606+185A>C (n.1606+185A>C) c.1655A>C (p.Tyr552Ser) n.2046A>C n.2153A>C n.2013A>C | |
19 | g.11120418A>G | CA404093591 | LDLR | c.2294A>G (p.Tyr765Cys) c.*105A>G (n.*105A>G) c.1916A>G (p.Tyr639Cys) c.2036A>G (p.Tyr679Cys) c.2290A>G c.1532A>G (p.Tyr511Cys) c.1913A>G (p.Tyr638Cys) c.1606+185A>G (n.1606+185A>G) c.1655A>G (p.Tyr552Cys) n.2046A>G n.2153A>G n.2013A>G | gnomAD v4 |
19 | g.11120418A>T | CA404093592 | LDLR | c.2294A>T (p.Tyr765Phe) c.*105A>T (n.*105A>T) c.1916A>T (p.Tyr639Phe) c.2036A>T (p.Tyr679Phe) c.2290A>T c.1532A>T (p.Tyr511Phe) c.1913A>T (p.Tyr638Phe) c.1606+185A>T (n.1606+185A>T) c.1655A>T (p.Tyr552Phe) n.2046A>T n.2153A>T n.2013A>T | |
19 | g.11120418dup | CA10585737 | LDLR | c.2294dup (p.Tyr765Ter) c.*105dup (n.*105dup) c.1916dup (p.Tyr639Ter) c.2036dup (p.Tyr679Ter) c.2290dup c.1532dup (p.Tyr511Ter) c.1913dup (p.Tyr638Ter) c.1606+185dup (n.1606+185dup) c.1655dup (p.Tyr552Ter) n.2046dup n.2153dup n.2013dup | ClinVar dbSNP |
19 | g.11120419T>A | CA10585738 | LDLR | c.2295T>A (p.Tyr765Ter) c.*106T>A (n.*106T>A) c.1917T>A (p.Tyr639Ter) c.2037T>A (p.Tyr679Ter) c.2291T>A c.1533T>A (p.Tyr511Ter) c.1914T>A (p.Tyr638Ter) c.1606+186T>A (n.1606+186T>A) c.1656T>A (p.Tyr552Ter) n.2047T>A n.2154T>A n.2014T>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120419T>C | CA038255 | LDLR | c.2295T>C (p.Tyr765=) c.*106T>C (n.*106T>C) c.1917T>C (p.Tyr639=) c.2037T>C (p.Tyr679=) c.2291T>C c.1533T>C (p.Tyr511=) c.1914T>C (p.Tyr638=) c.1606+186T>C (n.1606+186T>C) c.1656T>C (p.Tyr552=) n.2047T>C n.2154T>C n.2014T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120419T>G | CA404093599 | LDLR | c.2295T>G (p.Tyr765Ter) c.*106T>G (n.*106T>G) c.1917T>G (p.Tyr639Ter) c.2037T>G (p.Tyr679Ter) c.2291T>G c.1533T>G (p.Tyr511Ter) c.1914T>G (p.Tyr638Ter) c.1606+186T>G (n.1606+186T>G) c.1656T>G (p.Tyr552Ter) n.2047T>G n.2154T>G n.2014T>G | |
19 | g.11120419T= | CA2322775570 | LDLR | c.2295T= (p.Tyr765=) c.*106T= (n.*106T=) c.1917T= (p.Tyr639=) c.2037T= (p.Tyr679=) c.2291T= c.1533T= (p.Tyr511=) c.1914T= (p.Tyr638=) c.1606+186T= (n.1606+186T=) c.1656T= (p.Tyr552=) n.2047T= n.2154T= n.2014T= | |
19 | g.11120420C>A | CA404093601 | LDLR | c.2296C>A (p.Leu766Met) c.*107C>A (n.*107C>A) c.1918C>A (p.Leu640Met) c.2038C>A (p.Leu680Met) c.2292C>A c.1534C>A (p.Leu512Met) c.1915C>A (p.Leu639Met) c.1606+187C>A (n.1606+187C>A) c.1657C>A (p.Leu553Met) n.2048C>A n.2155C>A n.2015C>A | |
19 | g.11120420C= | CA2322775571 | LDLR | c.2296C= (p.Leu766=) c.*107C= (n.*107C=) c.1918C= (p.Leu640=) c.2038C= (p.Leu680=) c.2292C= c.1534C= (p.Leu512=) c.1915C= (p.Leu639=) c.1606+187C= (n.1606+187C=) c.1657C= (p.Leu553=) n.2048C= n.2155C= n.2015C= | |
19 | g.11120420C>G | CA404093603 | LDLR | c.2296C>G (p.Leu766Val) c.*107C>G (n.*107C>G) c.1918C>G (p.Leu640Val) c.2038C>G (p.Leu680Val) c.2292C>G c.1534C>G (p.Leu512Val) c.1915C>G (p.Leu639Val) c.1606+187C>G (n.1606+187C>G) c.1657C>G (p.Leu553Val) n.2048C>G n.2155C>G n.2015C>G | |
19 | g.11120420C>T | CA038265 | LDLR | c.2296C>T (p.Leu766=) c.*107C>T (n.*107C>T) c.1918C>T (p.Leu640=) c.2038C>T (p.Leu680=) c.2292C>T c.1534C>T (p.Leu512=) c.1915C>T (p.Leu639=) c.1606+187C>T (n.1606+187C>T) c.1657C>T (p.Leu553=) n.2048C>T n.2155C>T n.2015C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120421T>A | CA404093607 | LDLR | c.2297T>A (p.Leu766Gln) c.*108T>A (n.*108T>A) c.1919T>A (p.Leu640Gln) c.2039T>A (p.Leu680Gln) c.2293T>A c.1535T>A (p.Leu512Gln) c.1916T>A (p.Leu639Gln) c.1606+188T>A (n.1606+188T>A) c.1658T>A (p.Leu553Gln) n.2049T>A n.2156T>A n.2016T>A | |
19 | g.11120421T>C | CA404093609 | LDLR | c.2297T>C (p.Leu766Pro) c.*108T>C (n.*108T>C) c.1919T>C (p.Leu640Pro) c.2039T>C (p.Leu680Pro) c.2293T>C c.1535T>C (p.Leu512Pro) c.1916T>C (p.Leu639Pro) c.1606+188T>C (n.1606+188T>C) c.1658T>C (p.Leu553Pro) n.2049T>C n.2156T>C n.2016T>C | ClinVar dbSNP |
19 | g.11120421T>G | CA404093612 | LDLR | c.2297T>G (p.Leu766Arg) c.*108T>G (n.*108T>G) c.1919T>G (p.Leu640Arg) c.2039T>G (p.Leu680Arg) c.2293T>G c.1535T>G (p.Leu512Arg) c.1916T>G (p.Leu639Arg) c.1606+188T>G (n.1606+188T>G) c.1658T>G (p.Leu553Arg) n.2049T>G n.2156T>G n.2016T>G | |
19 | g.11120421T= | CA2322775572 | LDLR | c.2297T= (p.Leu766=) c.*108T= (n.*108T=) c.1919T= (p.Leu640=) c.2039T= (p.Leu680=) c.2293T= c.1535T= (p.Leu512=) c.1916T= (p.Leu639=) c.1606+188T= (n.1606+188T=) c.1658T= (p.Leu553=) n.2049T= n.2156T= n.2016T= | |
19 | g.11120423_11120424del | CA2497030036 | LDLR | c.2299_2300del (p.Cys767ProfsTer?) c.*110_*111del (n.*110_*111del) c.1921_1922del (p.Cys641ProfsTer?) c.2041_2042del (p.Cys681ProfsTer?) c.2295_2296del c.1537_1538del (p.Cys513ProfsTer?) c.1918_1919del (p.Cys640ProfsTer?) c.1606+190_1606+191del (n.1606+190_1606+191del) c.1660_1661del (p.Cys554ProfsTer?) n.2051_2052del n.2158_2159del n.2018_2019del | |
19 | g.11120422G>A | CA505743491 | LDLR | c.2298G>A (p.Leu766=) c.*109G>A (n.*109G>A) c.1920G>A (p.Leu640=) c.2040G>A (p.Leu680=) c.2294G>A c.1536G>A (p.Leu512=) c.1917G>A (p.Leu639=) c.1606+189G>A (n.1606+189G>A) c.1659G>A (p.Leu553=) n.2050G>A n.2157G>A n.2017G>A | |
19 | g.11120422G>C | CA038280 | LDLR | c.2298G>C (p.Leu766=) c.*109G>C (n.*109G>C) c.1920G>C (p.Leu640=) c.2040G>C (p.Leu680=) c.2294G>C c.1536G>C (p.Leu512=) c.1917G>C (p.Leu639=) c.1606+189G>C (n.1606+189G>C) c.1659G>C (p.Leu553=) n.2050G>C n.2157G>C n.2017G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120422G= | CA2322775573 | LDLR | c.2298G= (p.Leu766=) c.*109G= (n.*109G=) c.1920G= (p.Leu640=) c.2040G= (p.Leu680=) c.2294G= c.1536G= (p.Leu512=) c.1917G= (p.Leu639=) c.1606+189G= (n.1606+189G=) c.1659G= (p.Leu553=) n.2050G= n.2157G= n.2017G= | |
19 | g.11120422G>T | CA505743492 | LDLR | c.2298G>T (p.Leu766=) c.*109G>T (n.*109G>T) c.1920G>T (p.Leu640=) c.2040G>T (p.Leu680=) c.2294G>T c.1536G>T (p.Leu512=) c.1917G>T (p.Leu639=) c.1606+189G>T (n.1606+189G>T) c.1659G>T (p.Leu553=) n.2050G>T n.2157G>T n.2017G>T | |
19 | g.11120423T>A | CA10585739 | LDLR | c.2299T>A (p.Cys767Ser) c.*110T>A (n.*110T>A) c.1921T>A (p.Cys641Ser) c.2041T>A (p.Cys681Ser) c.2295T>A c.1537T>A (p.Cys513Ser) c.1918T>A (p.Cys640Ser) c.1606+190T>A (n.1606+190T>A) c.1660T>A (p.Cys554Ser) n.2051T>A n.2158T>A n.2018T>A | ClinVar dbSNP |
19 | g.11120423T>C | CA404093616 | LDLR | c.2299T>C (p.Cys767Arg) c.*110T>C (n.*110T>C) c.1921T>C (p.Cys641Arg) c.2041T>C (p.Cys681Arg) c.2295T>C c.1537T>C (p.Cys513Arg) c.1918T>C (p.Cys640Arg) c.1606+190T>C (n.1606+190T>C) c.1660T>C (p.Cys554Arg) n.2051T>C n.2158T>C n.2018T>C | |
19 | g.11120423T>G | CA10585740 | LDLR | c.2299T>G (p.Cys767Gly) c.*110T>G (n.*110T>G) c.1921T>G (p.Cys641Gly) c.2041T>G (p.Cys681Gly) c.2295T>G c.1537T>G (p.Cys513Gly) c.1918T>G (p.Cys640Gly) c.1606+190T>G (n.1606+190T>G) c.1660T>G (p.Cys554Gly) n.2051T>G n.2158T>G n.2018T>G | ClinVar dbSNP |
19 | g.11120423T= | CA2322775574 | LDLR | c.2299T= (p.Cys767=) c.*110T= (n.*110T=) c.1921T= (p.Cys641=) c.2041T= (p.Cys681=) c.2295T= c.1537T= (p.Cys513=) c.1918T= (p.Cys640=) c.1606+190T= (n.1606+190T=) c.1660T= (p.Cys554=) n.2051T= n.2158T= n.2018T= | |
19 | g.11120427_11120434del | CA2695228172 | LDLR | c.2303_2310del (p.Leu768ProfsTer?) c.*114_*121del (n.*114_*121del) c.1925_1932del (p.Leu642ProfsTer?) c.2045_2052del (p.Leu682ProfsTer?) c.2299_2306del c.1541_1548del (p.Leu514ProfsTer?) c.1922_1929del (p.Leu641ProfsTer?) c.1606+194_1606+201del (n.1606+194_1606+201del) c.1664_1671del (p.Leu555ProfsTer?) n.2055_2062del n.2162_2169del n.2022_2029del | |
19 | g.11120424G>A | CA10585741 | LDLR | c.2300G>A (p.Cys767Tyr) c.*111G>A (n.*111G>A) c.1922G>A (p.Cys641Tyr) c.2042G>A (p.Cys681Tyr) c.2296G>A c.1538G>A (p.Cys513Tyr) c.1919G>A (p.Cys640Tyr) c.1606+191G>A (n.1606+191G>A) c.1661G>A (p.Cys554Tyr) n.2052G>A n.2159G>A n.2019G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120424G>C | CA10585742 | LDLR | c.2300G>C (p.Cys767Ser) c.*111G>C (n.*111G>C) c.1922G>C (p.Cys641Ser) c.2042G>C (p.Cys681Ser) c.2296G>C c.1538G>C (p.Cys513Ser) c.1919G>C (p.Cys640Ser) c.1606+191G>C (n.1606+191G>C) c.1661G>C (p.Cys554Ser) n.2052G>C n.2159G>C n.2019G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11120424G= | CA2322775575 | LDLR | c.2300G= (p.Cys767=) c.*111G= (n.*111G=) c.1922G= (p.Cys641=) c.2042G= (p.Cys681=) c.2296G= c.1538G= (p.Cys513=) c.1919G= (p.Cys640=) c.1606+191G= (n.1606+191G=) c.1661G= (p.Cys554=) n.2052G= n.2159G= n.2019G= | |
19 | g.11120424G>T | CA404093624 | LDLR | c.2300G>T (p.Cys767Phe) c.*111G>T (n.*111G>T) c.1922G>T (p.Cys641Phe) c.2042G>T (p.Cys681Phe) c.2296G>T c.1538G>T (p.Cys513Phe) c.1919G>T (p.Cys640Phe) c.1606+191G>T (n.1606+191G>T) c.1661G>T (p.Cys554Phe) n.2052G>T n.2159G>T n.2019G>T | |
19 | g.11120424_11120428delinsGCCTC | CA2322775576 | LDLR | c.2300_2304delinsGCCTC (p.Cys767=) c.*111_*115delinsGCCTC (n.*111_*115delinsGCCTC) c.1922_1926delinsGCCTC (p.Cys641=) c.2042_2046delinsGCCTC (p.Cys681=) c.2296_2300delinsGCCTC c.1538_1542delinsGCCTC (p.Cys513=) c.1919_1923delinsGCCTC (p.Cys640=) c.1606+191_1606+195delinsGCCTC (n.1606+191_1606+195delinsGCCTC) c.1661_1665delinsGCCTC (p.Cys554=) n.2052_2056delinsGCCTC n.2159_2163delinsGCCTC n.2019_2023delinsGCCTC | |
19 | g.11120425C>A | CA023623 | LDLR | c.2301C>A (p.Cys767Ter) c.*112C>A (n.*112C>A) c.1923C>A (p.Cys641Ter) c.2043C>A (p.Cys681Ter) c.2297C>A c.1539C>A (p.Cys513Ter) c.1920C>A (p.Cys640Ter) c.1606+192C>A (n.1606+192C>A) c.1662C>A (p.Cys554Ter) n.2053C>A n.2160C>A n.2020C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120425C= | CA2322775577 | LDLR | c.2301C= (p.Cys767=) c.*112C= (n.*112C=) c.1923C= (p.Cys641=) c.2043C= (p.Cys681=) c.2297C= c.1539C= (p.Cys513=) c.1920C= (p.Cys640=) c.1606+192C= (n.1606+192C=) c.1662C= (p.Cys554=) n.2053C= n.2160C= n.2020C= | |
19 | g.11120425C>G | CA10585743 | LDLR | c.2301C>G (p.Cys767Trp) c.*112C>G (n.*112C>G) c.1923C>G (p.Cys641Trp) c.2043C>G (p.Cys681Trp) c.2297C>G c.1539C>G (p.Cys513Trp) c.1920C>G (p.Cys640Trp) c.1606+192C>G (n.1606+192C>G) c.1662C>G (p.Cys554Trp) n.2053C>G n.2160C>G n.2020C>G | ClinVar dbSNP |
19 | g.11120425C>T | CA505743493 | LDLR | c.2301C>T (p.Cys767=) c.*112C>T (n.*112C>T) c.1923C>T (p.Cys641=) c.2043C>T (p.Cys681=) c.2297C>T c.1539C>T (p.Cys513=) c.1920C>T (p.Cys640=) c.1606+192C>T (n.1606+192C>T) c.1662C>T (p.Cys554=) n.2053C>T n.2160C>T n.2020C>T | |
19 | g.11120426del | CA2830773956 | LDLR | c.2302del (p.Leu768SerfsTer27) c.*113del (n.*113del) c.1924del (p.Leu642SerfsTer27) c.2044del (p.Leu682SerfsTer27) c.2298del c.1540del (p.Leu514SerfsTer27) c.1921del (p.Leu641SerfsTer27) c.1606+193del (n.1606+193del) c.1663del (p.Leu555SerfsTer27) n.2054del n.2161del n.2021del | |
19 | g.11120428_11120431del | CA10585745 | LDLR | c.2304_2307del (p.Ala770ArgfsTer24) c.*115_*118del (n.*115_*118del) c.1926_1929del (p.Ala644ArgfsTer24) c.2046_2049del (p.Ala684ArgfsTer24) c.2300_2303del c.1542_1545del (p.Ala516ArgfsTer24) c.1923_1926del (p.Ala643ArgfsTer24) c.1606+195_1606+198del (n.1606+195_1606+198del) c.1665_1668del (p.Ala557ArgfsTer24) n.2056_2059del n.2163_2166del n.2023_2026del | ClinVar dbSNP |
19 | g.11120426C>A | CA404093632 | LDLR | c.2302C>A (p.Leu768Ile) c.*113C>A (n.*113C>A) c.1924C>A (p.Leu642Ile) c.2044C>A (p.Leu682Ile) c.2298C>A c.1540C>A (p.Leu514Ile) c.1921C>A (p.Leu641Ile) c.1606+193C>A (n.1606+193C>A) c.1663C>A (p.Leu555Ile) n.2054C>A n.2161C>A n.2021C>A | |
19 | g.11120426C= | CA2322775578 | LDLR | c.2302C= (p.Leu768=) c.*113C= (n.*113C=) c.1924C= (p.Leu642=) c.2044C= (p.Leu682=) c.2298C= c.1540C= (p.Leu514=) c.1921C= (p.Leu641=) c.1606+193C= (n.1606+193C=) c.1663C= (p.Leu555=) n.2054C= n.2161C= n.2021C= | |
19 | g.11120426C>G | CA404093634 | LDLR | c.2302C>G (p.Leu768Val) c.*113C>G (n.*113C>G) c.1924C>G (p.Leu642Val) c.2044C>G (p.Leu682Val) c.2298C>G c.1540C>G (p.Leu514Val) c.1921C>G (p.Leu641Val) c.1606+193C>G (n.1606+193C>G) c.1663C>G (p.Leu555Val) n.2054C>G n.2161C>G n.2021C>G | |
19 | g.11120426C>T | CA404093636 | LDLR | c.2302C>T (p.Leu768Phe) c.*113C>T (n.*113C>T) c.1924C>T (p.Leu642Phe) c.2044C>T (p.Leu682Phe) c.2298C>T c.1540C>T (p.Leu514Phe) c.1921C>T (p.Leu641Phe) c.1606+193C>T (n.1606+193C>T) c.1663C>T (p.Leu555Phe) n.2054C>T n.2161C>T n.2021C>T | ClinVar dbSNP |
19 | g.11120427T>A | CA404093639 | LDLR | c.2303T>A (p.Leu768His) c.*114T>A (n.*114T>A) c.1925T>A (p.Leu642His) c.2045T>A (p.Leu682His) c.2299T>A c.1541T>A (p.Leu514His) c.1922T>A (p.Leu641His) c.1606+194T>A (n.1606+194T>A) c.1664T>A (p.Leu555His) n.2055T>A n.2162T>A n.2022T>A | |
19 | g.11120427T>C | CA10585744 | LDLR | c.2303T>C (p.Leu768Pro) c.*114T>C (n.*114T>C) c.1925T>C (p.Leu642Pro) c.2045T>C (p.Leu682Pro) c.2299T>C c.1541T>C (p.Leu514Pro) c.1922T>C (p.Leu641Pro) c.1606+194T>C (n.1606+194T>C) c.1664T>C (p.Leu555Pro) n.2055T>C n.2162T>C n.2022T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11120427T>G | CA404093642 | LDLR | c.2303T>G (p.Leu768Arg) c.*114T>G (n.*114T>G) c.1925T>G (p.Leu642Arg) c.2045T>G (p.Leu682Arg) c.2299T>G c.1541T>G (p.Leu514Arg) c.1922T>G (p.Leu641Arg) c.1606+194T>G (n.1606+194T>G) c.1664T>G (p.Leu555Arg) n.2055T>G n.2162T>G n.2022T>G | ClinVar dbSNP |
19 | g.11120427T= | CA2322775579 | LDLR | c.2303T= (p.Leu768=) c.*114T= (n.*114T=) c.1925T= (p.Leu642=) c.2045T= (p.Leu682=) c.2299T= c.1541T= (p.Leu514=) c.1922T= (p.Leu641=) c.1606+194T= (n.1606+194T=) c.1664T= (p.Leu555=) n.2055T= n.2162T= n.2022T= | |
19 | g.11120428C>A | CA505743496 | LDLR | c.2304C>A (p.Leu768=) c.*115C>A (n.*115C>A) c.1926C>A (p.Leu642=) c.2046C>A (p.Leu682=) c.2300C>A c.1542C>A (p.Leu514=) c.1923C>A (p.Leu641=) c.1606+195C>A (n.1606+195C>A) c.1665C>A (p.Leu555=) n.2056C>A n.2163C>A n.2023C>A | |
19 | g.11120428C>G | CA505743495 | LDLR | c.2304C>G (p.Leu768=) c.*115C>G (n.*115C>G) c.1926C>G (p.Leu642=) c.2046C>G (p.Leu682=) c.2300C>G c.1542C>G (p.Leu514=) c.1923C>G (p.Leu641=) c.1606+195C>G (n.1606+195C>G) c.1665C>G (p.Leu555=) n.2056C>G n.2163C>G n.2023C>G | |
19 | g.11120428C>T | CA505743497 | LDLR | c.2304C>T (p.Leu768=) c.*115C>T (n.*115C>T) c.1926C>T (p.Leu642=) c.2046C>T (p.Leu682=) c.2300C>T c.1542C>T (p.Leu514=) c.1923C>T (p.Leu641=) c.1606+195C>T (n.1606+195C>T) c.1665C>T (p.Leu555=) n.2056C>T n.2163C>T n.2023C>T | ClinVar gnomAD v4 |
19 | g.11120430del | CA2830763875 | LDLR | c.2306del (p.Pro769LeufsTer26) c.*117del (n.*117del) c.1928del (p.Pro643LeufsTer26) c.2048del (p.Pro683LeufsTer26) c.2302del c.1544del (p.Pro515LeufsTer26) c.1925del (p.Pro642LeufsTer26) c.1606+197del (n.1606+197del) c.1667del (p.Pro556LeufsTer26) n.2058del n.2165del n.2025del | |
19 | g.11120429C>A | CA404093647 | LDLR | c.2305C>A (p.Pro769Thr) c.*116C>A (n.*116C>A) c.1927C>A (p.Pro643Thr) c.2047C>A (p.Pro683Thr) c.2301C>A c.1543C>A (p.Pro515Thr) c.1924C>A (p.Pro642Thr) c.1606+196C>A (n.1606+196C>A) c.1666C>A (p.Pro556Thr) n.2057C>A n.2164C>A n.2024C>A | |
19 | g.11120429C>G | CA404093646 | LDLR | c.2305C>G (p.Pro769Ala) c.*116C>G (n.*116C>G) c.1927C>G (p.Pro643Ala) c.2047C>G (p.Pro683Ala) c.2301C>G c.1543C>G (p.Pro515Ala) c.1924C>G (p.Pro642Ala) c.1606+196C>G (n.1606+196C>G) c.1666C>G (p.Pro556Ala) n.2057C>G n.2164C>G n.2024C>G | |
19 | g.11120429C>T | CA404093644 | LDLR | c.2305C>T (p.Pro769Ser) c.*116C>T (n.*116C>T) c.1927C>T (p.Pro643Ser) c.2047C>T (p.Pro683Ser) c.2301C>T c.1543C>T (p.Pro515Ser) c.1924C>T (p.Pro642Ser) c.1606+196C>T (n.1606+196C>T) c.1666C>T (p.Pro556Ser) n.2057C>T n.2164C>T n.2024C>T | |
19 | g.11120430C>A | CA404093649 | LDLR | c.2306C>A (p.Pro769His) c.*117C>A (n.*117C>A) c.1928C>A (p.Pro643His) c.2048C>A (p.Pro683His) c.2302C>A c.1544C>A (p.Pro515His) c.1925C>A (p.Pro642His) c.1606+197C>A (n.1606+197C>A) c.1667C>A (p.Pro556His) n.2058C>A n.2165C>A n.2025C>A | |
19 | g.11120430C= | CA2322775580 | LDLR | c.2306C= (p.Pro769=) c.*117C= (n.*117C=) c.1928C= (p.Pro643=) c.2048C= (p.Pro683=) c.2302C= c.1544C= (p.Pro515=) c.1925C= (p.Pro642=) c.1606+197C= (n.1606+197C=) c.1667C= (p.Pro556=) n.2058C= n.2165C= n.2025C= | |
19 | g.11120430C>G | CA404093652 | LDLR | c.2306C>G (p.Pro769Arg) c.*117C>G (n.*117C>G) c.1928C>G (p.Pro643Arg) c.2048C>G (p.Pro683Arg) c.2302C>G c.1544C>G (p.Pro515Arg) c.1925C>G (p.Pro642Arg) c.1606+197C>G (n.1606+197C>G) c.1667C>G (p.Pro556Arg) n.2058C>G n.2165C>G n.2025C>G | |
19 | g.11120430C>T | CA038297 | LDLR | c.2306C>T (p.Pro769Leu) c.*117C>T (n.*117C>T) c.1928C>T (p.Pro643Leu) c.2048C>T (p.Pro683Leu) c.2302C>T c.1544C>T (p.Pro515Leu) c.1925C>T (p.Pro642Leu) c.1606+197C>T (n.1606+197C>T) c.1667C>T (p.Pro556Leu) n.2058C>T n.2165C>T n.2025C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120431T>A | CA505743498 | LDLR | c.2307T>A (p.Pro769=) c.*118T>A (n.*118T>A) c.1929T>A (p.Pro643=) c.2049T>A (p.Pro683=) c.2303T>A c.1545T>A (p.Pro515=) c.1926T>A (p.Pro642=) c.1606+198T>A (n.1606+198T>A) c.1668T>A (p.Pro556=) n.2059T>A n.2166T>A n.2026T>A | |
19 | g.11120431T>C | CA505743499 | LDLR | c.2307T>C (p.Pro769=) c.*118T>C (n.*118T>C) c.1929T>C (p.Pro643=) c.2049T>C (p.Pro683=) c.2303T>C c.1545T>C (p.Pro515=) c.1926T>C (p.Pro642=) c.1606+198T>C (n.1606+198T>C) c.1668T>C (p.Pro556=) n.2059T>C n.2166T>C n.2026T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120431T>G | CA505743500 | LDLR | c.2307T>G (p.Pro769=) c.*118T>G (n.*118T>G) c.1929T>G (p.Pro643=) c.2049T>G (p.Pro683=) c.2303T>G c.1545T>G (p.Pro515=) c.1926T>G (p.Pro642=) c.1606+198T>G (n.1606+198T>G) c.1668T>G (p.Pro556=) n.2059T>G n.2166T>G n.2026T>G | ClinVar gnomAD v4 |
19 | g.11120431T= | CA2322775582 | LDLR | c.2307T= (p.Pro769=) c.*118T= (n.*118T=) c.1929T= (p.Pro643=) c.2049T= (p.Pro683=) c.2303T= c.1545T= (p.Pro515=) c.1926T= (p.Pro642=) c.1606+198T= (n.1606+198T=) c.1668T= (p.Pro556=) n.2059T= n.2166T= n.2026T= | |
19 | g.11120431_11120432delinsTG | CA2322775583 | LDLR | c.2307_2308delinsTG (p.Pro769=) c.*118_*119delinsTG (n.*118_*119delinsTG) c.1929_1930delinsTG (p.Pro643=) c.2049_2050delinsTG (p.Pro683=) c.2303_2304delinsTG c.1545_1546delinsTG (p.Pro515=) c.1926_1927delinsTG (p.Pro642=) c.1606+198_1606+199delinsTG (n.1606+198_1606+199delinsTG) c.1668_1669delinsTG (p.Pro556=) n.2059_2060delinsTG n.2166_2167delinsTG n.2026_2027delinsTG | |
19 | g.11120431_11120445delinsTGCCCCGCAGATCAA | CA2322775581 | LDLR | c.2307_2321delinsTGCCCCGCAGATCAA (p.Pro769=) c.*118_*132delinsTGCCCCGCAGATCAA (n.*118_*132delinsTGCCCCGCAGATCAA) c.1929_1943delinsTGCCCCGCAGATCAA (p.Pro643=) c.2049_2063delinsTGCCCCGCAGATCAA (p.Pro683=) c.2303_2317delinsTGCCCCGCAGATCAA c.1545_1559delinsTGCCCCGCAGATCAA (p.Pro515=) c.1926_1940delinsTGCCCCGCAGATCAA (p.Pro642=) c.1606+198_1606+212delinsTGCCCCGCAGATCAA (n.1606+198_1606+212delinsTGCCCCGCAGATCAA) c.1668_1682delinsTGCCCCGCAGATCAA (p.Pro556=) n.2059_2073delinsTGCCCCGCAGATCAA n.2166_2180delinsTGCCCCGCAGATCAA n.2026_2040delinsTGCCCCGCAGATCAA | |
19 | g.11120432del | CA645509289 | LDLR | c.2308del (p.Ala770ProfsTer25) c.*119del (n.*119del) c.1930del (p.Ala644ProfsTer25) c.2050del (p.Ala684ProfsTer25) c.2304del c.1546del (p.Ala516ProfsTer25) c.1927del (p.Ala643ProfsTer25) c.1606+199del (n.1606+199del) c.1669del (p.Ala557ProfsTer25) n.2060del n.2167del n.2027del | ClinVar dbSNP |
19 | g.11120432G>A | CA038311 | LDLR | c.2308G>A (p.Ala770Thr) c.*119G>A (n.*119G>A) c.1930G>A (p.Ala644Thr) c.2050G>A (p.Ala684Thr) c.2304G>A c.1546G>A (p.Ala516Thr) c.1927G>A (p.Ala643Thr) c.1606+199G>A (n.1606+199G>A) c.1669G>A (p.Ala557Thr) n.2060G>A n.2167G>A n.2027G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120432G>C | CA404093661 | LDLR | c.2308G>C (p.Ala770Pro) c.*119G>C (n.*119G>C) c.1930G>C (p.Ala644Pro) c.2050G>C (p.Ala684Pro) c.2304G>C c.1546G>C (p.Ala516Pro) c.1927G>C (p.Ala643Pro) c.1606+199G>C (n.1606+199G>C) c.1669G>C (p.Ala557Pro) n.2060G>C n.2167G>C n.2027G>C | |
19 | g.11120432G= | CA2322775587 | LDLR | c.2308G= (p.Ala770=) c.*119G= (n.*119G=) c.1930G= (p.Ala644=) c.2050G= (p.Ala684=) c.2304G= c.1546G= (p.Ala516=) c.1927G= (p.Ala643=) c.1606+199G= (n.1606+199G=) c.1669G= (p.Ala557=) n.2060G= n.2167G= n.2027G= | |
19 | g.11120432G>T | CA404093662 | LDLR | c.2308G>T (p.Ala770Ser) c.*119G>T (n.*119G>T) c.1930G>T (p.Ala644Ser) c.2050G>T (p.Ala684Ser) c.2304G>T c.1546G>T (p.Ala516Ser) c.1927G>T (p.Ala643Ser) c.1606+199G>T (n.1606+199G>T) c.1669G>T (p.Ala557Ser) n.2060G>T n.2167G>T n.2027G>T | |
19 | g.11120432_11120433delinsGC | CA2322775586 | LDLR | c.2308_2309delinsGC (p.Ala770=) c.*119_*120delinsGC (n.*119_*120delinsGC) c.1930_1931delinsGC (p.Ala644=) c.2050_2051delinsGC (p.Ala684=) c.2304_2305delinsGC c.1546_1547delinsGC (p.Ala516=) c.1927_1928delinsGC (p.Ala643=) c.1606+199_1606+200delinsGC (n.1606+199_1606+200delinsGC) c.1669_1670delinsGC (p.Ala557=) n.2060_2061delinsGC n.2167_2168delinsGC n.2027_2028delinsGC | |
19 | g.11120432_11120445del | CA10585746 | LDLR | c.2308_2321del (p.Ala770ProfsTer28) c.*119_*132del (n.*119_*132del) c.1930_1943del (p.Ala644ProfsTer28) c.2050_2063del (p.Ala684ProfsTer28) c.2304_2317del c.1546_1559del (p.Ala516ProfsTer28) c.1927_1940del (p.Ala643ProfsTer28) c.1606+199_1606+212del (n.1606+199_1606+212del) c.1669_1682del (p.Ala557ProfsTer28) n.2060_2073del n.2167_2180del n.2027_2040del | ClinVar dbSNP |
19 | g.11120432_11120445delinsC | CA645509288 | LDLR | c.2308_2321delinsC (p.Ala770ProfsTer21) c.*119_*132delinsC (n.*119_*132delinsC) c.1930_1943delinsC (p.Ala644ProfsTer21) c.2050_2063delinsC (p.Ala684ProfsTer21) c.2304_2317delinsC c.1546_1559delinsC (p.Ala516ProfsTer21) c.1927_1940delinsC (p.Ala643ProfsTer21) c.1606+199_1606+212delinsC (n.1606+199_1606+212delinsC) c.1669_1682delinsC (p.Ala557ProfsTer21) n.2060_2073delinsC n.2167_2180delinsC n.2027_2040delinsC | ClinVar dbSNP |
19 | g.11120432_11120445delinsGCCCCGCAGATCAA | CA2322775585 | LDLR | c.2308_2321delinsGCCCCGCAGATCAA (p.Ala770=) c.*119_*132delinsGCCCCGCAGATCAA (n.*119_*132delinsGCCCCGCAGATCAA) c.1930_1943delinsGCCCCGCAGATCAA (p.Ala644=) c.2050_2063delinsGCCCCGCAGATCAA (p.Ala684=) c.2304_2317delinsGCCCCGCAGATCAA c.1546_1559delinsGCCCCGCAGATCAA (p.Ala516=) c.1927_1940delinsGCCCCGCAGATCAA (p.Ala643=) c.1606+199_1606+212delinsGCCCCGCAGATCAA (n.1606+199_1606+212delinsGCCCCGCAGATCAA) c.1669_1682delinsGCCCCGCAGATCAA (p.Ala557=) n.2060_2073delinsGCCCCGCAGATCAA n.2167_2180delinsGCCCCGCAGATCAA n.2027_2040delinsGCCCCGCAGATCAA | |
19 | g.11120432_11120446delinsGCCCCGCAGATCAAC | CA2322775584 | LDLR | c.2308_2322delinsGCCCCGCAGATCAAC (p.Ala770=) c.*119_*133delinsGCCCCGCAGATCAAC (n.*119_*133delinsGCCCCGCAGATCAAC) c.1930_1944delinsGCCCCGCAGATCAAC (p.Ala644=) c.2050_2064delinsGCCCCGCAGATCAAC (p.Ala684=) c.2304_2318delinsGCCCCGCAGATCAAC c.1546_1560delinsGCCCCGCAGATCAAC (p.Ala516=) c.1927_1941delinsGCCCCGCAGATCAAC (p.Ala643=) c.1606+199_1606+213delinsGCCCCGCAGATCAAC (n.1606+199_1606+213delinsGCCCCGCAGATCAAC) c.1669_1683delinsGCCCCGCAGATCAAC (p.Ala557=) n.2060_2074delinsGCCCCGCAGATCAAC n.2167_2181delinsGCCCCGCAGATCAAC n.2027_2041delinsGCCCCGCAGATCAAC | |
19 | g.11120433C>A | CA404093670 | LDLR | c.2309C>A (p.Ala770Asp) c.*120C>A (n.*120C>A) c.1931C>A (p.Ala644Asp) c.2051C>A (p.Ala684Asp) c.2305C>A c.1547C>A (p.Ala516Asp) c.1928C>A (p.Ala643Asp) c.1606+200C>A (n.1606+200C>A) c.1670C>A (p.Ala557Asp) n.2061C>A n.2168C>A n.2028C>A | |
19 | g.11120433C= | CA2322775588 | LDLR | c.2309C= (p.Ala770=) c.*120C= (n.*120C=) c.1931C= (p.Ala644=) c.2051C= (p.Ala684=) c.2305C= c.1547C= (p.Ala516=) c.1928C= (p.Ala643=) c.1606+200C= (n.1606+200C=) c.1670C= (p.Ala557=) n.2061C= n.2168C= n.2028C= | |
19 | g.11120433C>G | CA404093671 | LDLR | c.2309C>G (p.Ala770Gly) c.*120C>G (n.*120C>G) c.1931C>G (p.Ala644Gly) c.2051C>G (p.Ala684Gly) c.2305C>G c.1547C>G (p.Ala516Gly) c.1928C>G (p.Ala643Gly) c.1606+200C>G (n.1606+200C>G) c.1670C>G (p.Ala557Gly) n.2061C>G n.2168C>G n.2028C>G | |
19 | g.11120433C>T | CA404093668 | LDLR | c.2309C>T (p.Ala770Val) c.*120C>T (n.*120C>T) c.1931C>T (p.Ala644Val) c.2051C>T (p.Ala684Val) c.2305C>T c.1547C>T (p.Ala516Val) c.1928C>T (p.Ala643Val) c.1606+200C>T (n.1606+200C>T) c.1670C>T (p.Ala557Val) n.2061C>T n.2168C>T n.2028C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120436dup | CA2497030099 | LDLR | c.2312dup (p.Gln772AlafsTer?) c.*123dup (n.*123dup) c.1934dup (p.Gln646AlafsTer?) c.2054dup (p.Gln686AlafsTer?) c.2308dup c.1550dup (p.Gln518AlafsTer?) c.1931dup (p.Gln645AlafsTer?) c.1606+203dup (n.1606+203dup) c.1673dup (p.Gln559AlafsTer?) n.2064dup n.2171dup n.2031dup | |
19 | g.11120436del | CA10585749 | LDLR | c.2312del (p.Pro771ArgfsTer24) c.*123del (n.*123del) c.1934del (p.Pro645ArgfsTer24) c.2054del (p.Pro685ArgfsTer24) c.2308del c.1550del (p.Pro517ArgfsTer24) c.1931del (p.Pro644ArgfsTer24) c.1606+203del (n.1606+203del) c.1673del (p.Pro558ArgfsTer24) n.2064del n.2171del n.2031del | ClinVar dbSNP |
19 | g.11120437_11120449del | CA10585750 | LDLR | c.2313_2325del (p.Gln772ThrfsTer19) c.*124_*136del (n.*124_*136del) c.1935_1947del (p.Gln646ThrfsTer19) c.2055_2067del (p.Gln686ThrfsTer19) c.2309_2321del c.1551_1563del (p.Gln518ThrfsTer19) c.1932_1944del (p.Gln645ThrfsTer19) c.1606+204_1606+216del (n.1606+204_1606+216del) c.1674_1686del (p.Gln559ThrfsTer19) n.2065_2077del n.2172_2184del n.2032_2044del | ClinVar dbSNP |
19 | g.11120437_11120450del | CA1139666277 | LDLR | c.2313_2326del (p.Gln772LeufsTer26) c.*124_*137del (n.*124_*137del) c.1935_1948del (p.Gln646LeufsTer26) c.2055_2068del (p.Gln686LeufsTer26) c.2309_2322del c.1551_1564del (p.Gln518LeufsTer26) c.1932_1945del (p.Gln645LeufsTer26) c.1606+204_1606+217del (n.1606+204_1606+217del) c.1674_1687del (p.Gln559LeufsTer26) n.2065_2078del n.2172_2185del n.2032_2045del | ClinVar dbSNP |
19 | g.11120434C>A | CA505486523 | LDLR | c.2310C>A (p.Ala770=) c.*121C>A (n.*121C>A) c.1932C>A (p.Ala644=) c.2052C>A (p.Ala684=) c.2306C>A c.1548C>A (p.Ala516=) c.1929C>A (p.Ala643=) c.1606+201C>A (n.1606+201C>A) c.1671C>A (p.Ala557=) n.2062C>A n.2169C>A n.2029C>A | |
19 | g.11120434C= | CA2322775589 | LDLR | c.2310C= (p.Ala770=) c.*121C= (n.*121C=) c.1932C= (p.Ala644=) c.2052C= (p.Ala684=) c.2306C= c.1548C= (p.Ala516=) c.1929C= (p.Ala643=) c.1606+201C= (n.1606+201C=) c.1671C= (p.Ala557=) n.2062C= n.2169C= n.2029C= | |
19 | g.11120434C>G | CA505486525 | LDLR | c.2310C>G (p.Ala770=) c.*121C>G (n.*121C>G) c.1932C>G (p.Ala644=) c.2052C>G (p.Ala684=) c.2306C>G c.1548C>G (p.Ala516=) c.1929C>G (p.Ala643=) c.1606+201C>G (n.1606+201C>G) c.1671C>G (p.Ala557=) n.2062C>G n.2169C>G n.2029C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11120434C>T | CA038330 | LDLR | c.2310C>T (p.Ala770=) c.*121C>T (n.*121C>T) c.1932C>T (p.Ala644=) c.2052C>T (p.Ala684=) c.2306C>T c.1548C>T (p.Ala516=) c.1929C>T (p.Ala643=) c.1606+201C>T (n.1606+201C>T) c.1671C>T (p.Ala557=) n.2062C>T n.2169C>T n.2029C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120435C>A | CA10585747 | LDLR | c.2311C>A (p.Pro771Thr) c.*122C>A (n.*122C>A) c.1933C>A (p.Pro645Thr) c.2053C>A (p.Pro685Thr) c.2307C>A c.1549C>A (p.Pro517Thr) c.1930C>A (p.Pro644Thr) c.1606+202C>A (n.1606+202C>A) c.1672C>A (p.Pro558Thr) n.2063C>A n.2170C>A n.2030C>A | ClinVar dbSNP |
19 | g.11120435C= | CA2322775590 | LDLR | c.2311C= (p.Pro771=) c.*122C= (n.*122C=) c.1933C= (p.Pro645=) c.2053C= (p.Pro685=) c.2307C= c.1549C= (p.Pro517=) c.1930C= (p.Pro644=) c.1606+202C= (n.1606+202C=) c.1672C= (p.Pro558=) n.2063C= n.2170C= n.2030C= | |
19 | g.11120435C>G | CA404093677 | LDLR | c.2311C>G (p.Pro771Ala) c.*122C>G (n.*122C>G) c.1933C>G (p.Pro645Ala) c.2053C>G (p.Pro685Ala) c.2307C>G c.1549C>G (p.Pro517Ala) c.1930C>G (p.Pro644Ala) c.1606+202C>G (n.1606+202C>G) c.1672C>G (p.Pro558Ala) n.2063C>G n.2170C>G n.2030C>G | |
19 | g.11120435C>T | CA10585748 | LDLR | c.2311C>T (p.Pro771Ser) c.*122C>T (n.*122C>T) c.1933C>T (p.Pro645Ser) c.2053C>T (p.Pro685Ser) c.2307C>T c.1549C>T (p.Pro517Ser) c.1930C>T (p.Pro644Ser) c.1606+202C>T (n.1606+202C>T) c.1672C>T (p.Pro558Ser) n.2063C>T n.2170C>T n.2030C>T | ClinVar dbSNP |
19 | g.11120436C>A | CA404093679 | LDLR | c.2312C>A (p.Pro771Gln) c.*123C>A (n.*123C>A) c.1934C>A (p.Pro645Gln) c.2054C>A (p.Pro685Gln) c.2308C>A c.1550C>A (p.Pro517Gln) c.1931C>A (p.Pro644Gln) c.1606+203C>A (n.1606+203C>A) c.1673C>A (p.Pro558Gln) n.2064C>A n.2171C>A n.2031C>A | ClinVar dbSNP |
19 | g.11120436C= | CA2322775592 | LDLR | c.2312C= (p.Pro771=) c.*123C= (n.*123C=) c.1934C= (p.Pro645=) c.2054C= (p.Pro685=) c.2308C= c.1550C= (p.Pro517=) c.1931C= (p.Pro644=) c.1606+203C= (n.1606+203C=) c.1673C= (p.Pro558=) n.2064C= n.2171C= n.2031C= | |
19 | g.11120436C>G | CA404093683 | LDLR | c.2312C>G (p.Pro771Arg) c.*123C>G (n.*123C>G) c.1934C>G (p.Pro645Arg) c.2054C>G (p.Pro685Arg) c.2308C>G c.1550C>G (p.Pro517Arg) c.1931C>G (p.Pro644Arg) c.1606+203C>G (n.1606+203C>G) c.1673C>G (p.Pro558Arg) n.2064C>G n.2171C>G n.2031C>G | ClinVar |
19 | g.11120436C>T | CA023628 | LDLR | c.2312C>T (p.Pro771Leu) c.*123C>T (n.*123C>T) c.1934C>T (p.Pro645Leu) c.2054C>T (p.Pro685Leu) c.2308C>T c.1550C>T (p.Pro517Leu) c.1931C>T (p.Pro644Leu) c.1606+203C>T (n.1606+203C>T) c.1673C>T (p.Pro558Leu) n.2064C>T n.2171C>T n.2031C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120436_11120437delinsCG | CA2322775591 | LDLR | c.2312_2313delinsCG (p.Pro771=) c.*123_*124delinsCG (n.*123_*124delinsCG) c.1934_1935delinsCG (p.Pro645=) c.2054_2055delinsCG (p.Pro685=) c.2308_2309delinsCG c.1550_1551delinsCG (p.Pro517=) c.1931_1932delinsCG (p.Pro644=) c.1606+203_1606+204delinsCG (n.1606+203_1606+204delinsCG) c.1673_1674delinsCG (p.Pro558=) n.2064_2065delinsCG n.2171_2172delinsCG n.2031_2032delinsCG | |
19 | g.11120437del | CA10585751 | LDLR | c.2313del (p.Gln772ArgfsTer23) c.*124del (n.*124del) c.1935del (p.Gln646ArgfsTer23) c.2055del (p.Gln686ArgfsTer23) c.2309del c.1551del (p.Gln518ArgfsTer23) c.1932del (p.Gln645ArgfsTer23) c.1606+204del (n.1606+204del) c.1674del (p.Gln559ArgfsTer23) n.2065del n.2172del n.2032del | ClinVar dbSNP |
19 | g.11120437G>A | CA038353 | LDLR | c.2313G>A (p.Pro771=) c.*124G>A (n.*124G>A) c.1935G>A (p.Pro645=) c.2055G>A (p.Pro685=) c.2309G>A c.1551G>A (p.Pro517=) c.1932G>A (p.Pro644=) c.1606+204G>A (n.1606+204G>A) c.1674G>A (p.Pro558=) n.2065G>A n.2172G>A n.2032G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120437G>C | CA505486529 | LDLR | c.2313G>C (p.Pro771=) c.*124G>C (n.*124G>C) c.1935G>C (p.Pro645=) c.2055G>C (p.Pro685=) c.2309G>C c.1551G>C (p.Pro517=) c.1932G>C (p.Pro644=) c.1606+204G>C (n.1606+204G>C) c.1674G>C (p.Pro558=) n.2065G>C n.2172G>C n.2032G>C | |
19 | g.11120437G= | CA2322775593 | LDLR | c.2313G= (p.Pro771=) c.*124G= (n.*124G=) c.1935G= (p.Pro645=) c.2055G= (p.Pro685=) c.2309G= c.1551G= (p.Pro517=) c.1932G= (p.Pro644=) c.1606+204G= (n.1606+204G=) c.1674G= (p.Pro558=) n.2065G= n.2172G= n.2032G= | |
19 | g.11120437G>T | CA038370 | LDLR | c.2313G>T (p.Pro771=) c.*124G>T (n.*124G>T) c.1935G>T (p.Pro645=) c.2055G>T (p.Pro685=) c.2309G>T c.1551G>T (p.Pro517=) c.1932G>T (p.Pro644=) c.1606+204G>T (n.1606+204G>T) c.1674G>T (p.Pro558=) n.2065G>T n.2172G>T n.2032G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120437_11120450delinsGCAGATCAACCCCC | CA2322775594 | LDLR | c.2313_2326delinsGCAGATCAACCCCC (p.Pro771=) c.*124_*137delinsGCAGATCAACCCCC (n.*124_*137delinsGCAGATCAACCCCC) c.1935_1948delinsGCAGATCAACCCCC (p.Pro645=) c.2055_2068delinsGCAGATCAACCCCC (p.Pro685=) c.2309_2322delinsGCAGATCAACCCCC c.1551_1564delinsGCAGATCAACCCCC (p.Pro517=) c.1932_1945delinsGCAGATCAACCCCC (p.Pro644=) c.1606+204_1606+217delinsGCAGATCAACCCCC (n.1606+204_1606+217delinsGCAGATCAACCCCC) c.1674_1687delinsGCAGATCAACCCCC (p.Pro558=) n.2065_2078delinsGCAGATCAACCCCC n.2172_2185delinsGCAGATCAACCCCC n.2032_2045delinsGCAGATCAACCCCC | |
19 | g.11120438C>A | CA404093690 | LDLR | c.2314C>A (p.Gln772Lys) c.*125C>A (n.*125C>A) c.1936C>A (p.Gln646Lys) c.2056C>A (p.Gln686Lys) c.2310C>A c.1552C>A (p.Gln518Lys) c.1933C>A (p.Gln645Lys) c.1606+205C>A (n.1606+205C>A) c.1675C>A (p.Gln559Lys) n.2066C>A n.2173C>A n.2033C>A | |
19 | g.11120438C= | CA2322775595 | LDLR | c.2314C= (p.Gln772=) c.*125C= (n.*125C=) c.1936C= (p.Gln646=) c.2056C= (p.Gln686=) c.2310C= c.1552C= (p.Gln518=) c.1933C= (p.Gln645=) c.1606+205C= (n.1606+205C=) c.1675C= (p.Gln559=) n.2066C= n.2173C= n.2033C= | |
19 | g.11120438C>G | CA16602343 | LDLR | c.2314C>G (p.Gln772Glu) c.*125C>G (n.*125C>G) c.1936C>G (p.Gln646Glu) c.2056C>G (p.Gln686Glu) c.2310C>G c.1552C>G (p.Gln518Glu) c.1933C>G (p.Gln645Glu) c.1606+205C>G (n.1606+205C>G) c.1675C>G (p.Gln559Glu) n.2066C>G n.2173C>G n.2033C>G | ClinVar dbSNP |
19 | g.11120438C>T | CA10585752 | LDLR | c.2314C>T (p.Gln772Ter) c.*125C>T (n.*125C>T) c.1936C>T (p.Gln646Ter) c.2056C>T (p.Gln686Ter) c.2310C>T c.1552C>T (p.Gln518Ter) c.1933C>T (p.Gln645Ter) c.1606+205C>T (n.1606+205C>T) c.1675C>T (p.Gln559Ter) n.2066C>T n.2173C>T n.2033C>T | ClinVar dbSNP |
19 | g.11120438_11120450del | CA10585753 | LDLR | c.2314_2326del (p.Gln772ThrfsTer19) c.*125_*137del (n.*125_*137del) c.1936_1948del (p.Gln646ThrfsTer19) c.2056_2068del (p.Gln686ThrfsTer19) c.2310_2322del c.1552_1564del (p.Gln518ThrfsTer19) c.1933_1945del (p.Gln645ThrfsTer19) c.1606+205_1606+217del (n.1606+205_1606+217del) c.1675_1687del (p.Gln559ThrfsTer19) n.2066_2078del n.2173_2185del n.2033_2045del | ClinVar dbSNP |
19 | g.11120438_11120439insT | CA2497030100 | LDLR | c.2314_2315insT (p.Gln772LeufsTer?) c.*125_*126insT (n.*125_*126insT) c.1936_1937insT (p.Gln646LeufsTer?) c.2056_2057insT (p.Gln686LeufsTer?) c.2310_2311insT c.1552_1553insT (p.Gln518LeufsTer?) c.1933_1934insT (p.Gln645LeufsTer?) c.1606+205_1606+206insT (n.1606+205_1606+206insT) c.1675_1676insT (p.Gln559LeufsTer?) n.2066_2067insT n.2173_2174insT n.2033_2034insT | |
19 | g.11120439A>C | CA404093698 | LDLR | c.2315A>C (p.Gln772Pro) c.*126A>C (n.*126A>C) c.1937A>C (p.Gln646Pro) c.2057A>C (p.Gln686Pro) c.2311A>C c.1553A>C (p.Gln518Pro) c.1934A>C (p.Gln645Pro) c.1606+206A>C (n.1606+206A>C) c.1676A>C (p.Gln559Pro) n.2067A>C n.2174A>C n.2034A>C | |
19 | g.11120439A>G | CA404093699 | LDLR | c.2315A>G (p.Gln772Arg) c.*126A>G (n.*126A>G) c.1937A>G (p.Gln646Arg) c.2057A>G (p.Gln686Arg) c.2311A>G c.1553A>G (p.Gln518Arg) c.1934A>G (p.Gln645Arg) c.1606+206A>G (n.1606+206A>G) c.1676A>G (p.Gln559Arg) n.2067A>G n.2174A>G n.2034A>G | |
19 | g.11120439A>T | CA404093701 | LDLR | c.2315A>T (p.Gln772Leu) c.*126A>T (n.*126A>T) c.1937A>T (p.Gln646Leu) c.2057A>T (p.Gln686Leu) c.2311A>T c.1553A>T (p.Gln518Leu) c.1934A>T (p.Gln645Leu) c.1606+206A>T (n.1606+206A>T) c.1676A>T (p.Gln559Leu) n.2067A>T n.2174A>T n.2034A>T | |
19 | g.11120440G>A | CA505486532 | LDLR | c.2316G>A (p.Gln772=) c.*127G>A (n.*127G>A) c.1938G>A (p.Gln646=) c.2058G>A (p.Gln686=) c.2312G>A c.1554G>A (p.Gln518=) c.1935G>A (p.Gln645=) c.1606+207G>A (n.1606+207G>A) c.1677G>A (p.Gln559=) n.2068G>A n.2175G>A n.2035G>A | |
19 | g.11120440G>C | CA404093703 | LDLR | c.2316G>C (p.Gln772His) c.*127G>C (n.*127G>C) c.1938G>C (p.Gln646His) c.2058G>C (p.Gln686His) c.2312G>C c.1554G>C (p.Gln518His) c.1935G>C (p.Gln645His) c.1606+207G>C (n.1606+207G>C) c.1677G>C (p.Gln559His) n.2068G>C n.2175G>C n.2035G>C | dbSNP |
19 | g.11120440G= | CA2322775596 | LDLR | c.2316G= (p.Gln772=) c.*127G= (n.*127G=) c.1938G= (p.Gln646=) c.2058G= (p.Gln686=) c.2312G= c.1554G= (p.Gln518=) c.1935G= (p.Gln645=) c.1606+207G= (n.1606+207G=) c.1677G= (p.Gln559=) n.2068G= n.2175G= n.2035G= | |
19 | g.11120440G>T | CA404093705 | LDLR | c.2316G>T (p.Gln772His) c.*127G>T (n.*127G>T) c.1938G>T (p.Gln646His) c.2058G>T (p.Gln686His) c.2312G>T c.1554G>T (p.Gln518His) c.1935G>T (p.Gln645His) c.1606+207G>T (n.1606+207G>T) c.1677G>T (p.Gln559His) n.2068G>T n.2175G>T n.2035G>T | |
19 | g.11120441A= | CA2322775597 | LDLR | c.2317A= (p.Ile773=) c.*128A= (n.*128A=) c.1939A= (p.Ile647=) c.2059A= (p.Ile687=) c.2313A= c.1555A= (p.Ile519=) c.1936A= (p.Ile646=) c.1606+208A= (n.1606+208A=) c.1678A= (p.Ile560=) n.2069A= n.2176A= n.2036A= | |
19 | g.11120441A>C | CA404093707 | LDLR | c.2317A>C (p.Ile773Leu) c.*128A>C (n.*128A>C) c.1939A>C (p.Ile647Leu) c.2059A>C (p.Ile687Leu) c.2313A>C c.1555A>C (p.Ile519Leu) c.1936A>C (p.Ile646Leu) c.1606+208A>C (n.1606+208A>C) c.1678A>C (p.Ile560Leu) n.2069A>C n.2176A>C n.2036A>C | |
19 | g.11120441A>G | CA404093709 | LDLR | c.2317A>G (p.Ile773Val) c.*128A>G (n.*128A>G) c.1939A>G (p.Ile647Val) c.2059A>G (p.Ile687Val) c.2313A>G c.1555A>G (p.Ile519Val) c.1936A>G (p.Ile646Val) c.1606+208A>G (n.1606+208A>G) c.1678A>G (p.Ile560Val) n.2069A>G n.2176A>G n.2036A>G | |
19 | g.11120441A>T | CA16609819 | LDLR | c.2317A>T (p.Ile773Phe) c.*128A>T (n.*128A>T) c.1939A>T (p.Ile647Phe) c.2059A>T (p.Ile687Phe) c.2313A>T c.1555A>T (p.Ile519Phe) c.1936A>T (p.Ile646Phe) c.1606+208A>T (n.1606+208A>T) c.1678A>T (p.Ile560Phe) n.2069A>T n.2176A>T n.2036A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120441_11120442delinsAT | CA2322775598 | LDLR | c.2317_2318delinsAT (p.Ile773=) c.*128_*129delinsAT (n.*128_*129delinsAT) c.1939_1940delinsAT (p.Ile647=) c.2059_2060delinsAT (p.Ile687=) c.2313_2314delinsAT c.1555_1556delinsAT (p.Ile519=) c.1936_1937delinsAT (p.Ile646=) c.1606+208_1606+209delinsAT (n.1606+208_1606+209delinsAT) c.1678_1679delinsAT (p.Ile560=) n.2069_2070delinsAT n.2176_2177delinsAT n.2036_2037delinsAT | |
19 | g.11120442del | CA10585754 | LDLR | c.2318del (p.Ile773ThrfsTer22) c.*129del (n.*129del) c.1940del (p.Ile647ThrfsTer22) c.2060del (p.Ile687ThrfsTer22) c.2314del c.1556del (p.Ile519ThrfsTer22) c.1937del (p.Ile646ThrfsTer22) c.1606+209del (n.1606+209del) c.1679del (p.Ile560ThrfsTer22) n.2070del n.2177del n.2037del | ClinVar dbSNP |
19 | g.11120442T>A | CA404093714 | LDLR | c.2318T>A (p.Ile773Asn) c.*129T>A (n.*129T>A) c.1940T>A (p.Ile647Asn) c.2060T>A (p.Ile687Asn) c.2314T>A c.1556T>A (p.Ile519Asn) c.1937T>A (p.Ile646Asn) c.1606+209T>A (n.1606+209T>A) c.1679T>A (p.Ile560Asn) n.2070T>A n.2177T>A n.2037T>A | |
19 | g.11120442T>C | CA404093715 | LDLR | c.2318T>C (p.Ile773Thr) c.*129T>C (n.*129T>C) c.1940T>C (p.Ile647Thr) c.2060T>C (p.Ile687Thr) c.2314T>C c.1556T>C (p.Ile519Thr) c.1937T>C (p.Ile646Thr) c.1606+209T>C (n.1606+209T>C) c.1679T>C (p.Ile560Thr) n.2070T>C n.2177T>C n.2037T>C | |
19 | g.11120442T>G | CA404093717 | LDLR | c.2318T>G (p.Ile773Ser) c.*129T>G (n.*129T>G) c.1940T>G (p.Ile647Ser) c.2060T>G (p.Ile687Ser) c.2314T>G c.1556T>G (p.Ile519Ser) c.1937T>G (p.Ile646Ser) c.1606+209T>G (n.1606+209T>G) c.1679T>G (p.Ile560Ser) n.2070T>G n.2177T>G n.2037T>G | |
19 | g.11120442T= | CA2322775599 | LDLR | c.2318T= (p.Ile773=) c.*129T= (n.*129T=) c.1940T= (p.Ile647=) c.2060T= (p.Ile687=) c.2314T= c.1556T= (p.Ile519=) c.1937T= (p.Ile646=) c.1606+209T= (n.1606+209T=) c.1679T= (p.Ile560=) n.2070T= n.2177T= n.2037T= | |
19 | g.11120442dup | CA10585755 | LDLR | c.2318dup (p.Asn774GlnfsTer29) c.*129dup (n.*129dup) c.1940dup (p.Asn648GlnfsTer29) c.2060dup (p.Asn688GlnfsTer29) c.2314dup c.1556dup (p.Asn520GlnfsTer29) c.1937dup (p.Asn647GlnfsTer29) c.1606+209dup (n.1606+209dup) c.1679dup (p.Asn561GlnfsTer29) n.2070dup n.2177dup n.2037dup | ClinVar dbSNP |
19 | g.11120442_11120443delinsTC | CA2322775600 | LDLR | c.2318_2319delinsTC (p.Ile773=) c.*129_*130delinsTC (n.*129_*130delinsTC) c.1940_1941delinsTC (p.Ile647=) c.2060_2061delinsTC (p.Ile687=) c.2314_2315delinsTC c.1556_1557delinsTC (p.Ile519=) c.1937_1938delinsTC (p.Ile646=) c.1606+209_1606+210delinsTC (n.1606+209_1606+210delinsTC) c.1679_1680delinsTC (p.Ile560=) n.2070_2071delinsTC n.2177_2178delinsTC n.2037_2038delinsTC | |
19 | g.11120443del | CA645373258 | LDLR | c.2319del (p.Asn774ThrfsTer21) c.*130del (n.*130del) c.1941del (p.Asn648ThrfsTer21) c.2061del (p.Asn688ThrfsTer21) c.2315del c.1557del (p.Asn520ThrfsTer21) c.1938del (p.Asn647ThrfsTer21) c.1606+210del (n.1606+210del) c.1680del (p.Asn561ThrfsTer21) n.2071del n.2178del n.2038del | ClinVar dbSNP |
19 | g.11120443C>A | CA505486536 | LDLR | c.2319C>A (p.Ile773=) c.*130C>A (n.*130C>A) c.1941C>A (p.Ile647=) c.2061C>A (p.Ile687=) c.2315C>A c.1557C>A (p.Ile519=) c.1938C>A (p.Ile646=) c.1606+210C>A (n.1606+210C>A) c.1680C>A (p.Ile560=) n.2071C>A n.2178C>A n.2038C>A | |
19 | g.11120443C= | CA2322775601 | LDLR | c.2319C= (p.Ile773=) c.*130C= (n.*130C=) c.1941C= (p.Ile647=) c.2061C= (p.Ile687=) c.2315C= c.1557C= (p.Ile519=) c.1938C= (p.Ile646=) c.1606+210C= (n.1606+210C=) c.1680C= (p.Ile560=) n.2071C= n.2178C= n.2038C= | |
19 | g.11120443C>G | CA404093724 | LDLR | c.2319C>G (p.Ile773Met) c.*130C>G (n.*130C>G) c.1941C>G (p.Ile647Met) c.2061C>G (p.Ile687Met) c.2315C>G c.1557C>G (p.Ile519Met) c.1938C>G (p.Ile646Met) c.1606+210C>G (n.1606+210C>G) c.1680C>G (p.Ile560Met) n.2071C>G n.2178C>G n.2038C>G | |
19 | g.11120443C>T | CA505486534 | LDLR | c.2319C>T (p.Ile773=) c.*130C>T (n.*130C>T) c.1941C>T (p.Ile647=) c.2061C>T (p.Ile687=) c.2315C>T c.1557C>T (p.Ile519=) c.1938C>T (p.Ile646=) c.1606+210C>T (n.1606+210C>T) c.1680C>T (p.Ile560=) n.2071C>T n.2178C>T n.2038C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120443dup | CA038385 | LDLR | c.2319dup (p.Asn774GlnfsTer29) c.*130dup (n.*130dup) c.1941dup (p.Asn648GlnfsTer29) c.2061dup (p.Asn688GlnfsTer29) c.2315dup c.1557dup (p.Asn520GlnfsTer29) c.1938dup (p.Asn647GlnfsTer29) c.1606+210dup (n.1606+210dup) c.1680dup (p.Asn561GlnfsTer29) n.2071dup n.2178dup n.2038dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120443_11120444delinsCA | CA2322775602 | LDLR | c.2319_2320delinsCA (p.Ile773=) c.*130_*131delinsCA (n.*130_*131delinsCA) c.1941_1942delinsCA (p.Ile647=) c.2061_2062delinsCA (p.Ile687=) c.2315_2316delinsCA c.1557_1558delinsCA (p.Ile519=) c.1938_1939delinsCA (p.Ile646=) c.1606+210_1606+211delinsCA (n.1606+210_1606+211delinsCA) c.1680_1681delinsCA (p.Ile560=) n.2071_2072delinsCA n.2178_2179delinsCA n.2038_2039delinsCA | |
19 | g.11120444A= | CA2322775603 | LDLR | c.2320A= (p.Asn774=) c.*131A= (n.*131A=) c.1942A= (p.Asn648=) c.2062A= (p.Asn688=) c.2316A= c.1558A= (p.Asn520=) c.1939A= (p.Asn647=) c.1606+211A= (n.1606+211A=) c.1681A= (p.Asn561=) n.2072A= n.2179A= n.2039A= | |
19 | g.11120444A>C | CA404093726 | LDLR | c.2320A>C (p.Asn774His) c.*131A>C (n.*131A>C) c.1942A>C (p.Asn648His) c.2062A>C (p.Asn688His) c.2316A>C c.1558A>C (p.Asn520His) c.1939A>C (p.Asn647His) c.1606+211A>C (n.1606+211A>C) c.1681A>C (p.Asn561His) n.2072A>C n.2179A>C n.2039A>C | |
19 | g.11120444A>G | CA404093728 | LDLR | c.2320A>G (p.Asn774Asp) c.*131A>G (n.*131A>G) c.1942A>G (p.Asn648Asp) c.2062A>G (p.Asn688Asp) c.2316A>G c.1558A>G (p.Asn520Asp) c.1939A>G (p.Asn647Asp) c.1606+211A>G (n.1606+211A>G) c.1681A>G (p.Asn561Asp) n.2072A>G n.2179A>G n.2039A>G | |
19 | g.11120444A>T | CA404093730 | LDLR | c.2320A>T (p.Asn774Tyr) c.*131A>T (n.*131A>T) c.1942A>T (p.Asn648Tyr) c.2062A>T (p.Asn688Tyr) c.2316A>T c.1558A>T (p.Asn520Tyr) c.1939A>T (p.Asn647Tyr) c.1606+211A>T (n.1606+211A>T) c.1681A>T (p.Asn561Tyr) n.2072A>T n.2179A>T n.2039A>T | |
19 | g.11120445dup | CA10585757 | LDLR | c.2321dup (p.Asn774LysfsTer29) c.*132dup (n.*132dup) c.1943dup (p.Asn648LysfsTer29) c.2063dup (p.Asn688LysfsTer29) c.2317dup c.1559dup (p.Asn520LysfsTer29) c.1940dup (p.Asn647LysfsTer29) c.1606+212dup (n.1606+212dup) c.1682dup (p.Asn561LysfsTer29) n.2073dup n.2180dup n.2040dup | ClinVar dbSNP |
19 | g.11120445del | CA10585756 | LDLR | c.2321del (p.Asn774ThrfsTer21) c.*132del (n.*132del) c.1943del (p.Asn648ThrfsTer21) c.2063del (p.Asn688ThrfsTer21) c.2317del c.1559del (p.Asn520ThrfsTer21) c.1940del (p.Asn647ThrfsTer21) c.1606+212del (n.1606+212del) c.1682del (p.Asn561ThrfsTer21) n.2073del n.2180del n.2040del | ClinVar dbSNP |
19 | g.11120444_11120445insC | CA645509290 | LDLR | c.2320_2321insC (p.Asn774ThrfsTer29) c.*131_*132insC (n.*131_*132insC) c.1942_1943insC (p.Asn648ThrfsTer29) c.2062_2063insC (p.Asn688ThrfsTer29) c.2316_2317insC c.1558_1559insC (p.Asn520ThrfsTer29) c.1939_1940insC (p.Asn647ThrfsTer29) c.1606+211_1606+212insC (n.1606+211_1606+212insC) c.1681_1682insC (p.Asn561ThrfsTer29) n.2072_2073insC n.2179_2180insC n.2039_2040insC | ClinVar dbSNP |
19 | g.11120445A= | CA2322775604 | LDLR | c.2321A= (p.Asn774=) c.*132A= (n.*132A=) c.1943A= (p.Asn648=) c.2063A= (p.Asn688=) c.2317A= c.1559A= (p.Asn520=) c.1940A= (p.Asn647=) c.1606+212A= (n.1606+212A=) c.1682A= (p.Asn561=) n.2073A= n.2180A= n.2040A= | |
19 | g.11120445A>C | CA404093736 | LDLR | c.2321A>C (p.Asn774Thr) c.*132A>C (n.*132A>C) c.1943A>C (p.Asn648Thr) c.2063A>C (p.Asn688Thr) c.2317A>C c.1559A>C (p.Asn520Thr) c.1940A>C (p.Asn647Thr) c.1606+212A>C (n.1606+212A>C) c.1682A>C (p.Asn561Thr) n.2073A>C n.2180A>C n.2040A>C | dbSNP |
19 | g.11120445A>G | CA404093739 | LDLR | c.2321A>G (p.Asn774Ser) c.*132A>G (n.*132A>G) c.1943A>G (p.Asn648Ser) c.2063A>G (p.Asn688Ser) c.2317A>G c.1559A>G (p.Asn520Ser) c.1940A>G (p.Asn647Ser) c.1606+212A>G (n.1606+212A>G) c.1682A>G (p.Asn561Ser) n.2073A>G n.2180A>G n.2040A>G | ClinVar gnomAD v4 |
19 | g.11120445A>T | CA404093734 | LDLR | c.2321A>T (p.Asn774Ile) c.*132A>T (n.*132A>T) c.1943A>T (p.Asn648Ile) c.2063A>T (p.Asn688Ile) c.2317A>T c.1559A>T (p.Asn520Ile) c.1940A>T (p.Asn647Ile) c.1606+212A>T (n.1606+212A>T) c.1682A>T (p.Asn561Ile) n.2073A>T n.2180A>T n.2040A>T | |
19 | g.11120445_11120446delinsAC | CA2322775605 | LDLR | c.2321_2322delinsAC (p.Asn774=) c.*132_*133delinsAC (n.*132_*133delinsAC) c.1943_1944delinsAC (p.Asn648=) c.2063_2064delinsAC (p.Asn688=) c.2317_2318delinsAC c.1559_1560delinsAC (p.Asn520=) c.1940_1941delinsAC (p.Asn647=) c.1606+212_1606+213delinsAC (n.1606+212_1606+213delinsAC) c.1682_1683delinsAC (p.Asn561=) n.2073_2074delinsAC n.2180_2181delinsAC n.2040_2041delinsAC | |
19 | g.11120446C>A | CA404093742 | LDLR | c.2322C>A (p.Asn774Lys) c.*133C>A (n.*133C>A) c.1944C>A (p.Asn648Lys) c.2064C>A (p.Asn688Lys) c.2318C>A c.1560C>A (p.Asn520Lys) c.1941C>A (p.Asn647Lys) c.1606+213C>A (n.1606+213C>A) c.1683C>A (p.Asn561Lys) n.2074C>A n.2181C>A n.2041C>A | |
19 | g.11120446C= | CA2322775606 | LDLR | c.2322C= (p.Asn774=) c.*133C= (n.*133C=) c.1944C= (p.Asn648=) c.2064C= (p.Asn688=) c.2318C= c.1560C= (p.Asn520=) c.1941C= (p.Asn647=) c.1606+213C= (n.1606+213C=) c.1683C= (p.Asn561=) n.2074C= n.2181C= n.2041C= | |
19 | g.11120446C>G | CA404093744 | LDLR | c.2322C>G (p.Asn774Lys) c.*133C>G (n.*133C>G) c.1944C>G (p.Asn648Lys) c.2064C>G (p.Asn688Lys) c.2318C>G c.1560C>G (p.Asn520Lys) c.1941C>G (p.Asn647Lys) c.1606+213C>G (n.1606+213C>G) c.1683C>G (p.Asn561Lys) n.2074C>G n.2181C>G n.2041C>G | |
19 | g.11120446C>T | CA038402 | LDLR | c.2322C>T (p.Asn774=) c.*133C>T (n.*133C>T) c.1944C>T (p.Asn648=) c.2064C>T (p.Asn688=) c.2318C>T c.1560C>T (p.Asn520=) c.1941C>T (p.Asn647=) c.1606+213C>T (n.1606+213C>T) c.1683C>T (p.Asn561=) n.2074C>T n.2181C>T n.2041C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120450dup | CA16602344 | LDLR | c.2326dup (p.His776ProfsTer27) c.*137dup (n.*137dup) c.1948dup (p.His650ProfsTer27) c.2068dup (p.His690ProfsTer27) c.2322dup c.1564dup (p.His522ProfsTer27) c.1945dup (p.His649ProfsTer27) c.1606+217dup (n.1606+217dup) c.1687dup (p.His563ProfsTer27) n.2078dup n.2185dup n.2045dup | ClinVar dbSNP |
19 | g.11120450del | CA10585759 | LDLR | c.2326del (p.His776ThrfsTer19) c.*137del (n.*137del) c.1948del (p.His650ThrfsTer19) c.2068del (p.His690ThrfsTer19) c.2322del c.1564del (p.His522ThrfsTer19) c.1945del (p.His649ThrfsTer19) c.1606+217del (n.1606+217del) c.1687del (p.His563ThrfsTer19) n.2078del n.2185del n.2045del | ClinVar dbSNP gnomAD v4 |
19 | g.11120447C>A | CA404093750 | LDLR | c.2323C>A (p.Pro775Thr) c.*134C>A (n.*134C>A) c.1945C>A (p.Pro649Thr) c.2065C>A (p.Pro689Thr) c.2319C>A c.1561C>A (p.Pro521Thr) c.1942C>A (p.Pro648Thr) c.1606+214C>A (n.1606+214C>A) c.1684C>A (p.Pro562Thr) n.2075C>A n.2182C>A n.2042C>A | |
19 | g.11120447C= | CA2322775607 | LDLR | c.2323C= (p.Pro775=) c.*134C= (n.*134C=) c.1945C= (p.Pro649=) c.2065C= (p.Pro689=) c.2319C= c.1561C= (p.Pro521=) c.1942C= (p.Pro648=) c.1606+214C= (n.1606+214C=) c.1684C= (p.Pro562=) n.2075C= n.2182C= n.2042C= | |
19 | g.11120447C>G | CA404093752 | LDLR | c.2323C>G (p.Pro775Ala) c.*134C>G (n.*134C>G) c.1945C>G (p.Pro649Ala) c.2065C>G (p.Pro689Ala) c.2319C>G c.1561C>G (p.Pro521Ala) c.1942C>G (p.Pro648Ala) c.1606+214C>G (n.1606+214C>G) c.1684C>G (p.Pro562Ala) n.2075C>G n.2182C>G n.2042C>G | |
19 | g.11120447C>T | CA038416 | LDLR | c.2323C>T (p.Pro775Ser) c.*134C>T (n.*134C>T) c.1945C>T (p.Pro649Ser) c.2065C>T (p.Pro689Ser) c.2319C>T c.1561C>T (p.Pro521Ser) c.1942C>T (p.Pro648Ser) c.1606+214C>T (n.1606+214C>T) c.1684C>T (p.Pro562Ser) n.2075C>T n.2182C>T n.2042C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120448C>A | CA404093758 | LDLR | c.2324C>A (p.Pro775His) c.*135C>A (n.*135C>A) c.1946C>A (p.Pro649His) c.2066C>A (p.Pro689His) c.2320C>A c.1562C>A (p.Pro521His) c.1943C>A (p.Pro648His) c.1606+215C>A (n.1606+215C>A) c.1685C>A (p.Pro562His) n.2076C>A n.2183C>A n.2043C>A | |
19 | g.11120448C>G | CA404093756 | LDLR | c.2324C>G (p.Pro775Arg) c.*135C>G (n.*135C>G) c.1946C>G (p.Pro649Arg) c.2066C>G (p.Pro689Arg) c.2320C>G c.1562C>G (p.Pro521Arg) c.1943C>G (p.Pro648Arg) c.1606+215C>G (n.1606+215C>G) c.1685C>G (p.Pro562Arg) n.2076C>G n.2183C>G n.2043C>G | |
19 | g.11120448C>T | CA404093754 | LDLR | c.2324C>T (p.Pro775Leu) c.*135C>T (n.*135C>T) c.1946C>T (p.Pro649Leu) c.2066C>T (p.Pro689Leu) c.2320C>T c.1562C>T (p.Pro521Leu) c.1943C>T (p.Pro648Leu) c.1606+215C>T (n.1606+215C>T) c.1685C>T (p.Pro562Leu) n.2076C>T n.2183C>T n.2043C>T | |
19 | g.11120449C>A | CA505486543 | LDLR | c.2325C>A (p.Pro775=) c.*136C>A (n.*136C>A) c.1947C>A (p.Pro649=) c.2067C>A (p.Pro689=) c.2321C>A c.1563C>A (p.Pro521=) c.1944C>A (p.Pro648=) c.1606+216C>A (n.1606+216C>A) c.1686C>A (p.Pro562=) n.2077C>A n.2184C>A n.2044C>A | |
19 | g.11120449C= | CA2322775608 | LDLR | c.2325C= (p.Pro775=) c.*136C= (n.*136C=) c.1947C= (p.Pro649=) c.2067C= (p.Pro689=) c.2321C= c.1563C= (p.Pro521=) c.1944C= (p.Pro648=) c.1606+216C= (n.1606+216C=) c.1686C= (p.Pro562=) n.2077C= n.2184C= n.2044C= | |
19 | g.11120449C>G | CA505486544 | LDLR | c.2325C>G (p.Pro775=) c.*136C>G (n.*136C>G) c.1947C>G (p.Pro649=) c.2067C>G (p.Pro689=) c.2321C>G c.1563C>G (p.Pro521=) c.1944C>G (p.Pro648=) c.1606+216C>G (n.1606+216C>G) c.1686C>G (p.Pro562=) n.2077C>G n.2184C>G n.2044C>G | gnomAD v4 |
19 | g.11120449C>T | CA505486545 | LDLR | c.2325C>T (p.Pro775=) c.*136C>T (n.*136C>T) c.1947C>T (p.Pro649=) c.2067C>T (p.Pro689=) c.2321C>T c.1563C>T (p.Pro521=) c.1944C>T (p.Pro648=) c.1606+216C>T (n.1606+216C>T) c.1686C>T (p.Pro562=) n.2077C>T n.2184C>T n.2044C>T | dbSNP gnomAD v2 |
19 | g.11120451_11120467del | CA2838032757 | LDLR | c.2327_2343del (p.His776LeufsTer21) c.*138_*154del (n.*138_*154del) c.1949_1965del (p.His650LeufsTer21) c.2069_2085del (p.His690LeufsTer21) c.2323_2339del c.1565_1581del (p.His522LeufsTer21) c.1946_1962del (p.His649LeufsTer21) c.1606+218_1606+234del (n.1606+218_1606+234del) c.1688_1704del (p.His563LeufsTer21) n.2079_2095del n.2186_2202del n.2046_2062del | |
19 | g.11120450C>A | CA038426 | LDLR | c.2326C>A (p.His776Asn) c.*137C>A (n.*137C>A) c.1948C>A (p.His650Asn) c.2068C>A (p.His690Asn) c.2322C>A c.1564C>A (p.His522Asn) c.1945C>A (p.His649Asn) c.1606+217C>A (n.1606+217C>A) c.1687C>A (p.His563Asn) n.2078C>A n.2185C>A n.2045C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120450C= | CA2322775609 | LDLR | c.2326C= (p.His776=) c.*137C= (n.*137C=) c.1948C= (p.His650=) c.2068C= (p.His690=) c.2322C= c.1564C= (p.His522=) c.1945C= (p.His649=) c.1606+217C= (n.1606+217C=) c.1687C= (p.His563=) n.2078C= n.2185C= n.2045C= | |
19 | g.11120450C>G | CA10585758 | LDLR | c.2326C>G (p.His776Asp) c.*137C>G (n.*137C>G) c.1948C>G (p.His650Asp) c.2068C>G (p.His690Asp) c.2322C>G c.1564C>G (p.His522Asp) c.1945C>G (p.His649Asp) c.1606+217C>G (n.1606+217C>G) c.1687C>G (p.His563Asp) n.2078C>G n.2185C>G n.2045C>G | ClinVar dbSNP |
19 | g.11120450C>T | CA404093764 | LDLR | c.2326C>T (p.His776Tyr) c.*137C>T (n.*137C>T) c.1948C>T (p.His650Tyr) c.2068C>T (p.His690Tyr) c.2322C>T c.1564C>T (p.His522Tyr) c.1945C>T (p.His649Tyr) c.1606+217C>T (n.1606+217C>T) c.1687C>T (p.His563Tyr) n.2078C>T n.2185C>T n.2045C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120451_11120466dup | CA2695228174 | LDLR | c.2327_2342dup (p.Cys782LeufsTer26) c.*138_*153dup (n.*138_*153dup) c.1949_1964dup (p.Cys656LeufsTer26) c.2069_2084dup (p.Cys696LeufsTer26) c.2323_2338dup c.1565_1580dup (p.Cys528LeufsTer26) c.1946_1961dup (p.Cys655LeufsTer26) c.1606+218_1606+233dup (n.1606+218_1606+233dup) c.1688_1703dup (p.Cys569LeufsTer26) n.2079_2094dup n.2186_2201dup n.2046_2061dup | |
19 | g.11120451A= | CA2322775610 | LDLR | c.2327A= (p.His776=) c.*138A= (n.*138A=) c.1949A= (p.His650=) c.2069A= (p.His690=) c.2323A= c.1565A= (p.His522=) c.1946A= (p.His649=) c.1606+218A= (n.1606+218A=) c.1688A= (p.His563=) n.2079A= n.2186A= n.2046A= | |
19 | g.11120451A>C | CA404093768 | LDLR | c.2327A>C (p.His776Pro) c.*138A>C (n.*138A>C) c.1949A>C (p.His650Pro) c.2069A>C (p.His690Pro) c.2323A>C c.1565A>C (p.His522Pro) c.1946A>C (p.His649Pro) c.1606+218A>C (n.1606+218A>C) c.1688A>C (p.His563Pro) n.2079A>C n.2186A>C n.2046A>C | dbSNP |
19 | g.11120451A>G | CA404093769 | LDLR | c.2327A>G (p.His776Arg) c.*138A>G (n.*138A>G) c.1949A>G (p.His650Arg) c.2069A>G (p.His690Arg) c.2323A>G c.1565A>G (p.His522Arg) c.1946A>G (p.His649Arg) c.1606+218A>G (n.1606+218A>G) c.1688A>G (p.His563Arg) n.2079A>G n.2186A>G n.2046A>G | |
19 | g.11120451A>T | CA404093772 | LDLR | c.2327A>T (p.His776Leu) c.*138A>T (n.*138A>T) c.1949A>T (p.His650Leu) c.2069A>T (p.His690Leu) c.2323A>T c.1565A>T (p.His522Leu) c.1946A>T (p.His649Leu) c.1606+218A>T (n.1606+218A>T) c.1688A>T (p.His563Leu) n.2079A>T n.2186A>T n.2046A>T | |
19 | g.11120452C>A | CA404093775 | LDLR | c.2328C>A (p.His776Gln) c.*139C>A (n.*139C>A) c.1950C>A (p.His650Gln) c.2070C>A (p.His690Gln) c.2324C>A c.1566C>A (p.His522Gln) c.1947C>A (p.His649Gln) c.1606+219C>A (n.1606+219C>A) c.1689C>A (p.His563Gln) n.2080C>A n.2187C>A n.2047C>A | |
19 | g.11120452C= | CA2322775611 | LDLR | c.2328C= (p.His776=) c.*139C= (n.*139C=) c.1950C= (p.His650=) c.2070C= (p.His690=) c.2324C= c.1566C= (p.His522=) c.1947C= (p.His649=) c.1606+219C= (n.1606+219C=) c.1689C= (p.His563=) n.2080C= n.2187C= n.2047C= | |
19 | g.11120452C>G | CA404093778 | LDLR | c.2328C>G (p.His776Gln) c.*139C>G (n.*139C>G) c.1950C>G (p.His650Gln) c.2070C>G (p.His690Gln) c.2324C>G c.1566C>G (p.His522Gln) c.1947C>G (p.His649Gln) c.1606+219C>G (n.1606+219C>G) c.1689C>G (p.His563Gln) n.2080C>G n.2187C>G n.2047C>G | |
19 | g.11120452C>T | CA038438 | LDLR | c.2328C>T (p.His776=) c.*139C>T (n.*139C>T) c.1950C>T (p.His650=) c.2070C>T (p.His690=) c.2324C>T c.1566C>T (p.His522=) c.1947C>T (p.His649=) c.1606+219C>T (n.1606+219C>T) c.1689C>T (p.His563=) n.2080C>T n.2187C>T n.2047C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120453T>A | CA404093781 | LDLR | c.2329T>A (p.Ser777Thr) c.*140T>A (n.*140T>A) c.1951T>A (p.Ser651Thr) c.2071T>A (p.Ser691Thr) c.2325T>A c.1567T>A (p.Ser523Thr) c.1948T>A (p.Ser650Thr) c.1606+220T>A (n.1606+220T>A) c.1690T>A (p.Ser564Thr) n.2081T>A n.2188T>A n.2048T>A | |
19 | g.11120453T>C | CA404093783 | LDLR | c.2329T>C (p.Ser777Pro) c.*140T>C (n.*140T>C) c.1951T>C (p.Ser651Pro) c.2071T>C (p.Ser691Pro) c.2325T>C c.1567T>C (p.Ser523Pro) c.1948T>C (p.Ser650Pro) c.1606+220T>C (n.1606+220T>C) c.1690T>C (p.Ser564Pro) n.2081T>C n.2188T>C n.2048T>C | |
19 | g.11120453T>G | CA404093785 | LDLR | c.2329T>G (p.Ser777Ala) c.*140T>G (n.*140T>G) c.1951T>G (p.Ser651Ala) c.2071T>G (p.Ser691Ala) c.2325T>G c.1567T>G (p.Ser523Ala) c.1948T>G (p.Ser650Ala) c.1606+220T>G (n.1606+220T>G) c.1690T>G (p.Ser564Ala) n.2081T>G n.2188T>G n.2048T>G | |
19 | g.11120454C>A | CA10585760 | LDLR | c.2330C>A (p.Ser777Ter) c.*141C>A (n.*141C>A) c.1952C>A (p.Ser651Ter) c.2072C>A (p.Ser691Ter) c.2326C>A c.1568C>A (p.Ser523Ter) c.1949C>A (p.Ser650Ter) c.1606+221C>A (n.1606+221C>A) c.1691C>A (p.Ser564Ter) n.2082C>A n.2189C>A n.2049C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120454C= | CA2322775612 | LDLR | c.2330C= (p.Ser777=) c.*141C= (n.*141C=) c.1952C= (p.Ser651=) c.2072C= (p.Ser691=) c.2326C= c.1568C= (p.Ser523=) c.1949C= (p.Ser650=) c.1606+221C= (n.1606+221C=) c.1691C= (p.Ser564=) n.2082C= n.2189C= n.2049C= | |
19 | g.11120454C>G | CA404093788 | LDLR | c.2330C>G (p.Ser777Trp) c.*141C>G (n.*141C>G) c.1952C>G (p.Ser651Trp) c.2072C>G (p.Ser691Trp) c.2326C>G c.1568C>G (p.Ser523Trp) c.1949C>G (p.Ser650Trp) c.1606+221C>G (n.1606+221C>G) c.1691C>G (p.Ser564Trp) n.2082C>G n.2189C>G n.2049C>G | |
19 | g.11120454C>T | CA038447 | LDLR | c.2330C>T (p.Ser777Leu) c.*141C>T (n.*141C>T) c.1952C>T (p.Ser651Leu) c.2072C>T (p.Ser691Leu) c.2326C>T c.1568C>T (p.Ser523Leu) c.1949C>T (p.Ser650Leu) c.1606+221C>T (n.1606+221C>T) c.1691C>T (p.Ser564Leu) n.2082C>T n.2189C>T n.2049C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120455G>A | CA038453 | LDLR | c.2331G>A (p.Ser777=) c.*142G>A (n.*142G>A) c.1953G>A (p.Ser651=) c.2073G>A (p.Ser691=) c.2327G>A c.1569G>A (p.Ser523=) c.1950G>A (p.Ser650=) c.1606+222G>A (n.1606+222G>A) c.1692G>A (p.Ser564=) n.2083G>A n.2190G>A n.2050G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120455G>C | CA505486553 | LDLR | c.2331G>C (p.Ser777=) c.*142G>C (n.*142G>C) c.1953G>C (p.Ser651=) c.2073G>C (p.Ser691=) c.2327G>C c.1569G>C (p.Ser523=) c.1950G>C (p.Ser650=) c.1606+222G>C (n.1606+222G>C) c.1692G>C (p.Ser564=) n.2083G>C n.2190G>C n.2050G>C | |
19 | g.11120455G= | CA2322775613 | LDLR | c.2331G= (p.Ser777=) c.*142G= (n.*142G=) c.1953G= (p.Ser651=) c.2073G= (p.Ser691=) c.2327G= c.1569G= (p.Ser523=) c.1950G= (p.Ser650=) c.1606+222G= (n.1606+222G=) c.1692G= (p.Ser564=) n.2083G= n.2190G= n.2050G= | |
19 | g.11120455G>T | CA038469 | LDLR | c.2331G>T (p.Ser777=) c.*142G>T (n.*142G>T) c.1953G>T (p.Ser651=) c.2073G>T (p.Ser691=) c.2327G>T c.1569G>T (p.Ser523=) c.1950G>T (p.Ser650=) c.1606+222G>T (n.1606+222G>T) c.1692G>T (p.Ser564=) n.2083G>T n.2190G>T n.2050G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120456C>A | CA404093793 | LDLR | c.2332C>A (p.Pro778Thr) c.*143C>A (n.*143C>A) c.1954C>A (p.Pro652Thr) c.2074C>A (p.Pro692Thr) c.2328C>A c.1570C>A (p.Pro524Thr) c.1951C>A (p.Pro651Thr) c.1606+223C>A (n.1606+223C>A) c.1693C>A (p.Pro565Thr) n.2084C>A n.2191C>A n.2051C>A | |
19 | g.11120456C>G | CA404093795 | LDLR | c.2332C>G (p.Pro778Ala) c.*143C>G (n.*143C>G) c.1954C>G (p.Pro652Ala) c.2074C>G (p.Pro692Ala) c.2328C>G c.1570C>G (p.Pro524Ala) c.1951C>G (p.Pro651Ala) c.1606+223C>G (n.1606+223C>G) c.1693C>G (p.Pro565Ala) n.2084C>G n.2191C>G n.2051C>G | |
19 | g.11120456C>T | CA404093796 | LDLR | c.2332C>T (p.Pro778Ser) c.*143C>T (n.*143C>T) c.1954C>T (p.Pro652Ser) c.2074C>T (p.Pro692Ser) c.2328C>T c.1570C>T (p.Pro524Ser) c.1951C>T (p.Pro651Ser) c.1606+223C>T (n.1606+223C>T) c.1693C>T (p.Pro565Ser) n.2084C>T n.2191C>T n.2051C>T | |
19 | g.11120457C>A | CA404093798 | LDLR | c.2333C>A (p.Pro778His) c.*144C>A (n.*144C>A) c.1955C>A (p.Pro652His) c.2075C>A (p.Pro692His) c.2329C>A c.1571C>A (p.Pro524His) c.1952C>A (p.Pro651His) c.1606+224C>A (n.1606+224C>A) c.1694C>A (p.Pro565His) n.2085C>A n.2192C>A n.2052C>A | |
19 | g.11120457C= | CA2322775614 | LDLR | c.2333C= (p.Pro778=) c.*144C= (n.*144C=) c.1955C= (p.Pro652=) c.2075C= (p.Pro692=) c.2329C= c.1571C= (p.Pro524=) c.1952C= (p.Pro651=) c.1606+224C= (n.1606+224C=) c.1694C= (p.Pro565=) n.2085C= n.2192C= n.2052C= | |
19 | g.11120457C>G | CA404093800 | LDLR | c.2333C>G (p.Pro778Arg) c.*144C>G (n.*144C>G) c.1955C>G (p.Pro652Arg) c.2075C>G (p.Pro692Arg) c.2329C>G c.1571C>G (p.Pro524Arg) c.1952C>G (p.Pro651Arg) c.1606+224C>G (n.1606+224C>G) c.1694C>G (p.Pro565Arg) n.2085C>G n.2192C>G n.2052C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11120457C>T | CA404093802 | LDLR | c.2333C>T (p.Pro778Leu) c.*144C>T (n.*144C>T) c.1955C>T (p.Pro652Leu) c.2075C>T (p.Pro692Leu) c.2329C>T c.1571C>T (p.Pro524Leu) c.1952C>T (p.Pro651Leu) c.1606+224C>T (n.1606+224C>T) c.1694C>T (p.Pro565Leu) n.2085C>T n.2192C>T n.2052C>T | |
19 | g.11120458C>A | CA505486561 | LDLR | c.2334C>A (p.Pro778=) c.*145C>A (n.*145C>A) c.1956C>A (p.Pro652=) c.2076C>A (p.Pro692=) c.2330C>A c.1572C>A (p.Pro524=) c.1953C>A (p.Pro651=) c.1606+225C>A (n.1606+225C>A) c.1695C>A (p.Pro565=) n.2086C>A n.2193C>A n.2053C>A | |
19 | g.11120458C= | CA2322775616 | LDLR | c.2334C= (p.Pro778=) c.*145C= (n.*145C=) c.1956C= (p.Pro652=) c.2076C= (p.Pro692=) c.2330C= c.1572C= (p.Pro524=) c.1953C= (p.Pro651=) c.1606+225C= (n.1606+225C=) c.1695C= (p.Pro565=) n.2086C= n.2193C= n.2053C= | |
19 | g.11120458C>G | CA505486562 | LDLR | c.2334C>G (p.Pro778=) c.*145C>G (n.*145C>G) c.1956C>G (p.Pro652=) c.2076C>G (p.Pro692=) c.2330C>G c.1572C>G (p.Pro524=) c.1953C>G (p.Pro651=) c.1606+225C>G (n.1606+225C>G) c.1695C>G (p.Pro565=) n.2086C>G n.2193C>G n.2053C>G | ClinVar |
19 | g.11120458C>T | CA505486563 | LDLR | c.2334C>T (p.Pro778=) c.*145C>T (n.*145C>T) c.1956C>T (p.Pro652=) c.2076C>T (p.Pro692=) c.2330C>T c.1572C>T (p.Pro524=) c.1953C>T (p.Pro651=) c.1606+225C>T (n.1606+225C>T) c.1695C>T (p.Pro565=) n.2086C>T n.2193C>T n.2053C>T | ClinVar |
19 | g.11120458_11120460delinsCAA | CA2322775615 | LDLR | c.2334_2336delinsCAA (p.Pro778=) c.*145_*147delinsCAA (n.*145_*147delinsCAA) c.1956_1958delinsCAA (p.Pro652=) c.2076_2078delinsCAA (p.Pro692=) c.2330_2332delinsCAA c.1572_1574delinsCAA (p.Pro524=) c.1953_1955delinsCAA (p.Pro651=) c.1606+225_1606+227delinsCAA (n.1606+225_1606+227delinsCAA) c.1695_1697delinsCAA (p.Pro565=) n.2086_2088delinsCAA n.2193_2195delinsCAA n.2053_2055delinsCAA | |
19 | g.11120459A>C | CA404093809 | LDLR | c.2335A>C (p.Lys779Gln) c.*146A>C (n.*146A>C) c.1957A>C (p.Lys653Gln) c.2077A>C (p.Lys693Gln) c.2331A>C c.1573A>C (p.Lys525Gln) c.1954A>C (p.Lys652Gln) c.1606+226A>C (n.1606+226A>C) c.1696A>C (p.Lys566Gln) n.2087A>C n.2194A>C n.2054A>C | ClinVar |
19 | g.11120459A>G | CA404093807 | LDLR | c.2335A>G (p.Lys779Glu) c.*146A>G (n.*146A>G) c.1957A>G (p.Lys653Glu) c.2077A>G (p.Lys693Glu) c.2331A>G c.1573A>G (p.Lys525Glu) c.1954A>G (p.Lys652Glu) c.1606+226A>G (n.1606+226A>G) c.1696A>G (p.Lys566Glu) n.2087A>G n.2194A>G n.2054A>G | |
19 | g.11120459A>T | CA404093811 | LDLR | c.2335A>T (p.Lys779Ter) c.*146A>T (n.*146A>T) c.1957A>T (p.Lys653Ter) c.2077A>T (p.Lys693Ter) c.2331A>T c.1573A>T (p.Lys525Ter) c.1954A>T (p.Lys652Ter) c.1606+226A>T (n.1606+226A>T) c.1696A>T (p.Lys566Ter) n.2087A>T n.2194A>T n.2054A>T | |
19 | g.11120459_11120460del | CA10585761 | LDLR | c.2335_2336del (p.Lys779ValfsTer23) c.*146_*147del (n.*146_*147del) c.1957_1958del (p.Lys653ValfsTer23) c.2077_2078del (p.Lys693ValfsTer23) c.2331_2332del c.1573_1574del (p.Lys525ValfsTer23) c.1954_1955del (p.Lys652ValfsTer23) c.1606+226_1606+227del (n.1606+226_1606+227del) c.1696_1697del (p.Lys566ValfsTer23) n.2087_2088del n.2194_2195del n.2054_2055del | ClinVar dbSNP |
19 | g.11120460dup | CA16602345 | LDLR | c.2336dup (p.Phe780ValfsTer23) c.*147dup (n.*147dup) c.1958dup (p.Phe654ValfsTer23) c.2078dup (p.Phe694ValfsTer23) c.2332dup c.1574dup (p.Phe526ValfsTer23) c.1955dup (p.Phe653ValfsTer23) c.1606+227dup (n.1606+227dup) c.1697dup (p.Phe567ValfsTer23) n.2088dup n.2195dup n.2055dup | ClinVar dbSNP |
19 | g.11120460A= | CA2322775617 | LDLR | c.2336A= (p.Lys779=) c.*147A= (n.*147A=) c.1958A= (p.Lys653=) c.2078A= (p.Lys693=) c.2332A= c.1574A= (p.Lys525=) c.1955A= (p.Lys652=) c.1606+227A= (n.1606+227A=) c.1697A= (p.Lys566=) n.2088A= n.2195A= n.2055A= | |
19 | g.11120460A>C | CA404093817 | LDLR | c.2336A>C (p.Lys779Thr) c.*147A>C (n.*147A>C) c.1958A>C (p.Lys653Thr) c.2078A>C (p.Lys693Thr) c.2332A>C c.1574A>C (p.Lys525Thr) c.1955A>C (p.Lys652Thr) c.1606+227A>C (n.1606+227A>C) c.1697A>C (p.Lys566Thr) n.2088A>C n.2195A>C n.2055A>C | gnomAD v4 |
19 | g.11120460A>G | CA404093815 | LDLR | c.2336A>G (p.Lys779Arg) c.*147A>G (n.*147A>G) c.1958A>G (p.Lys653Arg) c.2078A>G (p.Lys693Arg) c.2332A>G c.1574A>G (p.Lys525Arg) c.1955A>G (p.Lys652Arg) c.1606+227A>G (n.1606+227A>G) c.1697A>G (p.Lys566Arg) n.2088A>G n.2195A>G n.2055A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11120460A>T | CA404093819 | LDLR | c.2336A>T (p.Lys779Met) c.*147A>T (n.*147A>T) c.1958A>T (p.Lys653Met) c.2078A>T (p.Lys693Met) c.2332A>T c.1574A>T (p.Lys525Met) c.1955A>T (p.Lys652Met) c.1606+227A>T (n.1606+227A>T) c.1697A>T (p.Lys566Met) n.2088A>T n.2195A>T n.2055A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11120461_11120465del | CA2497030147 | LDLR | c.2337_2341del (p.Lys779AsnfsTer22) c.*148_*152del (n.*148_*152del) c.1959_1963del (p.Lys653AsnfsTer22) c.2079_2083del (p.Lys693AsnfsTer22) c.2333_2337del c.1575_1579del (p.Lys525AsnfsTer22) c.1956_1960del (p.Lys652AsnfsTer22) c.1606+228_1606+232del (n.1606+228_1606+232del) c.1698_1702del (p.Lys566AsnfsTer22) n.2089_2093del n.2196_2200del n.2056_2060del | |
19 | g.11120461G>A | CA038481 | LDLR | c.2337G>A (p.Lys779=) c.*148G>A (n.*148G>A) c.1959G>A (p.Lys653=) c.2079G>A (p.Lys693=) c.2333G>A c.1575G>A (p.Lys525=) c.1956G>A (p.Lys652=) c.1606+228G>A (n.1606+228G>A) c.1698G>A (p.Lys566=) n.2089G>A n.2196G>A n.2056G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120461G>C | CA404093826 | LDLR | c.2337G>C (p.Lys779Asn) c.*148G>C (n.*148G>C) c.1959G>C (p.Lys653Asn) c.2079G>C (p.Lys693Asn) c.2333G>C c.1575G>C (p.Lys525Asn) c.1956G>C (p.Lys652Asn) c.1606+228G>C (n.1606+228G>C) c.1698G>C (p.Lys566Asn) n.2089G>C n.2196G>C n.2056G>C | |
19 | g.11120461G= | CA2322775618 | LDLR | c.2337G= (p.Lys779=) c.*148G= (n.*148G=) c.1959G= (p.Lys653=) c.2079G= (p.Lys693=) c.2333G= c.1575G= (p.Lys525=) c.1956G= (p.Lys652=) c.1606+228G= (n.1606+228G=) c.1698G= (p.Lys566=) n.2089G= n.2196G= n.2056G= | |
19 | g.11120461G>T | CA404093823 | LDLR | c.2337G>T (p.Lys779Asn) c.*148G>T (n.*148G>T) c.1959G>T (p.Lys653Asn) c.2079G>T (p.Lys693Asn) c.2333G>T c.1575G>T (p.Lys525Asn) c.1956G>T (p.Lys652Asn) c.1606+228G>T (n.1606+228G>T) c.1698G>T (p.Lys566Asn) n.2089G>T n.2196G>T n.2056G>T | |
19 | g.11120462T>A | CA404093828 | LDLR | c.2338T>A (p.Phe780Ile) c.*149T>A (n.*149T>A) c.1960T>A (p.Phe654Ile) c.2080T>A (p.Phe694Ile) c.2334T>A c.1576T>A (p.Phe526Ile) c.1957T>A (p.Phe653Ile) c.1606+229T>A (n.1606+229T>A) c.1699T>A (p.Phe567Ile) n.2090T>A n.2197T>A n.2057T>A | |
19 | g.11120462T>C | CA404093831 | LDLR | c.2338T>C (p.Phe780Leu) c.*149T>C (n.*149T>C) c.1960T>C (p.Phe654Leu) c.2080T>C (p.Phe694Leu) c.2334T>C c.1576T>C (p.Phe526Leu) c.1957T>C (p.Phe653Leu) c.1606+229T>C (n.1606+229T>C) c.1699T>C (p.Phe567Leu) n.2090T>C n.2197T>C n.2057T>C | |
19 | g.11120462T>G | CA10585762 | LDLR | c.2338T>G (p.Phe780Val) c.*149T>G (n.*149T>G) c.1960T>G (p.Phe654Val) c.2080T>G (p.Phe694Val) c.2334T>G c.1576T>G (p.Phe526Val) c.1957T>G (p.Phe653Val) c.1606+229T>G (n.1606+229T>G) c.1699T>G (p.Phe567Val) n.2090T>G n.2197T>G n.2057T>G | ClinVar dbSNP |
19 | g.11120462T= | CA2322775619 | LDLR | c.2338T= (p.Phe780=) c.*149T= (n.*149T=) c.1960T= (p.Phe654=) c.2080T= (p.Phe694=) c.2334T= c.1576T= (p.Phe526=) c.1957T= (p.Phe653=) c.1606+229T= (n.1606+229T=) c.1699T= (p.Phe567=) n.2090T= n.2197T= n.2057T= | |
19 | g.11120463T>A | CA404093834 | LDLR | c.2339T>A (p.Phe780Tyr) c.*150T>A (n.*150T>A) c.1961T>A (p.Phe654Tyr) c.2081T>A (p.Phe694Tyr) c.2335T>A c.1577T>A (p.Phe526Tyr) c.1958T>A (p.Phe653Tyr) c.1606+230T>A (n.1606+230T>A) c.1700T>A (p.Phe567Tyr) n.2091T>A n.2198T>A n.2058T>A | |
19 | g.11120463T>C | CA404093838 | LDLR | c.2339T>C (p.Phe780Ser) c.*150T>C (n.*150T>C) c.1961T>C (p.Phe654Ser) c.2081T>C (p.Phe694Ser) c.2335T>C c.1577T>C (p.Phe526Ser) c.1958T>C (p.Phe653Ser) c.1606+230T>C (n.1606+230T>C) c.1700T>C (p.Phe567Ser) n.2091T>C n.2198T>C n.2058T>C | |
19 | g.11120463T>G | CA404093836 | LDLR | c.2339T>G (p.Phe780Cys) c.*150T>G (n.*150T>G) c.1961T>G (p.Phe654Cys) c.2081T>G (p.Phe694Cys) c.2335T>G c.1577T>G (p.Phe526Cys) c.1958T>G (p.Phe653Cys) c.1606+230T>G (n.1606+230T>G) c.1700T>G (p.Phe567Cys) n.2091T>G n.2198T>G n.2058T>G | |
19 | g.11120464T>A | CA404093840 | LDLR | c.2340T>A (p.Phe780Leu) c.*151T>A (n.*151T>A) c.1962T>A (p.Phe654Leu) c.2082T>A (p.Phe694Leu) c.2336T>A c.1578T>A (p.Phe526Leu) c.1959T>A (p.Phe653Leu) c.1606+231T>A (n.1606+231T>A) c.1701T>A (p.Phe567Leu) n.2092T>A n.2199T>A n.2059T>A | |
19 | g.11120464T>C | CA505486570 | LDLR | c.2340T>C (p.Phe780=) c.*151T>C (n.*151T>C) c.1962T>C (p.Phe654=) c.2082T>C (p.Phe694=) c.2336T>C c.1578T>C (p.Phe526=) c.1959T>C (p.Phe653=) c.1606+231T>C (n.1606+231T>C) c.1701T>C (p.Phe567=) n.2092T>C n.2199T>C n.2059T>C | gnomAD v4 |
19 | g.11120464T>G | CA404093842 | LDLR | c.2340T>G (p.Phe780Leu) c.*151T>G (n.*151T>G) c.1962T>G (p.Phe654Leu) c.2082T>G (p.Phe694Leu) c.2336T>G c.1578T>G (p.Phe526Leu) c.1959T>G (p.Phe653Leu) c.1606+231T>G (n.1606+231T>G) c.1701T>G (p.Phe567Leu) n.2092T>G n.2199T>G n.2059T>G | |
19 | g.11120464_11120481del | CA2573050619 | LDLR | c.2340_2357del (p.Thr781_Asp786del) c.*151_*168del (n.*151_*168del) c.1962_1979del (p.Thr655_Asp660del) c.2082_2099del (p.Thr695_Asp700del) c.2336_2353del c.1578_1595del (p.Thr527_Asp532del) c.1959_1976del (p.Thr654_Asp659del) c.1606+231_1606+248del (n.1606+231_1606+248del) c.1701_1718del (p.Thr568_Asp573del) n.2092_2109del n.2199_2216del n.2059_2076del | |
19 | g.11120465A= | CA2322775622 | LDLR | c.2341A= (p.Thr781=) c.*152A= (n.*152A=) c.1963A= (p.Thr655=) c.2083A= (p.Thr695=) c.2337A= c.1579A= (p.Thr527=) c.1960A= (p.Thr654=) c.1606+232A= (n.1606+232A=) c.1702A= (p.Thr568=) n.2093A= n.2200A= n.2060A= | |
19 | g.11120465A>C | CA404093845 | LDLR | c.2341A>C (p.Thr781Pro) c.*152A>C (n.*152A>C) c.1963A>C (p.Thr655Pro) c.2083A>C (p.Thr695Pro) c.2337A>C c.1579A>C (p.Thr527Pro) c.1960A>C (p.Thr654Pro) c.1606+232A>C (n.1606+232A>C) c.1702A>C (p.Thr568Pro) n.2093A>C n.2200A>C n.2060A>C | ClinVar dbSNP |
19 | g.11120465A>G | CA404093848 | LDLR | c.2341A>G (p.Thr781Ala) c.*152A>G (n.*152A>G) c.1963A>G (p.Thr655Ala) c.2083A>G (p.Thr695Ala) c.2337A>G c.1579A>G (p.Thr527Ala) c.1960A>G (p.Thr654Ala) c.1606+232A>G (n.1606+232A>G) c.1702A>G (p.Thr568Ala) n.2093A>G n.2200A>G n.2060A>G | ClinVar dbSNP |
19 | g.11120465A>T | CA404093850 | LDLR | c.2341A>T (p.Thr781Ser) c.*152A>T (n.*152A>T) c.1963A>T (p.Thr655Ser) c.2083A>T (p.Thr695Ser) c.2337A>T c.1579A>T (p.Thr527Ser) c.1960A>T (p.Thr654Ser) c.1606+232A>T (n.1606+232A>T) c.1702A>T (p.Thr568Ser) n.2093A>T n.2200A>T n.2060A>T | |
19 | g.11120465_11120466delinsAC | CA2322775621 | LDLR | c.2341_2342delinsAC (p.Thr781=) c.*152_*153delinsAC (n.*152_*153delinsAC) c.1963_1964delinsAC (p.Thr655=) c.2083_2084delinsAC (p.Thr695=) c.2337_2338delinsAC c.1579_1580delinsAC (p.Thr527=) c.1960_1961delinsAC (p.Thr654=) c.1606+232_1606+233delinsAC (n.1606+232_1606+233delinsAC) c.1702_1703delinsAC (p.Thr568=) n.2093_2094delinsAC n.2200_2201delinsAC n.2060_2061delinsAC | |
19 | g.11120465_11120484delinsACCTGCGCCTGCCCGGACGG | CA2322775620 | LDLR | c.2341_2360delinsACCTGCGCCTGCCCGGACGG (p.Thr781=) c.*152_*171delinsACCTGCGCCTGCCCGGACGG (n.*152_*171delinsACCTGCGCCTGCCCGGACGG) c.1963_1982delinsACCTGCGCCTGCCCGGACGG (p.Thr655=) c.2083_2102delinsACCTGCGCCTGCCCGGACGG (p.Thr695=) c.2337_2356delinsACCTGCGCCTGCCCGGACGG c.1579_1598delinsACCTGCGCCTGCCCGGACGG (p.Thr527=) c.1960_1979delinsACCTGCGCCTGCCCGGACGG (p.Thr654=) c.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG (n.1606+232_1606+251delinsACCTGCGCCTGCCCGGACGG) c.1702_1721delinsACCTGCGCCTGCCCGGACGG (p.Thr568=) n.2093_2112delinsACCTGCGCCTGCCCGGACGG n.2200_2219delinsACCTGCGCCTGCCCGGACGG n.2060_2079delinsACCTGCGCCTGCCCGGACGG | |
19 | g.11120466C>A | CA404093853 | LDLR | c.2342C>A (p.Thr781Asn) c.*153C>A (n.*153C>A) c.1964C>A (p.Thr655Asn) c.2084C>A (p.Thr695Asn) c.2338C>A c.1580C>A (p.Thr527Asn) c.1961C>A (p.Thr654Asn) c.1606+233C>A (n.1606+233C>A) c.1703C>A (p.Thr568Asn) n.2094C>A n.2201C>A n.2061C>A | gnomAD v4 |
19 | g.11120466C>G | CA404093855 | LDLR | c.2342C>G (p.Thr781Ser) c.*153C>G (n.*153C>G) c.1964C>G (p.Thr655Ser) c.2084C>G (p.Thr695Ser) c.2338C>G c.1580C>G (p.Thr527Ser) c.1961C>G (p.Thr654Ser) c.1606+233C>G (n.1606+233C>G) c.1703C>G (p.Thr568Ser) n.2094C>G n.2201C>G n.2061C>G | |
19 | g.11120466C>T | CA404093857 | LDLR | c.2342C>T (p.Thr781Ile) c.*153C>T (n.*153C>T) c.1964C>T (p.Thr655Ile) c.2084C>T (p.Thr695Ile) c.2338C>T c.1580C>T (p.Thr527Ile) c.1961C>T (p.Thr654Ile) c.1606+233C>T (n.1606+233C>T) c.1703C>T (p.Thr568Ile) n.2094C>T n.2201C>T n.2061C>T | |
19 | g.11120467del | CA16602346 | LDLR | c.2343del (p.Cys782AlafsTer13) c.*154del (n.*154del) c.1965del (p.Cys656AlafsTer13) c.2085del (p.Cys696AlafsTer13) c.2339del c.1581del (p.Cys528AlafsTer13) c.1962del (p.Cys655AlafsTer13) c.1606+234del (n.1606+234del) c.1704del (p.Cys569AlafsTer13) n.2095del n.2202del n.2062del | ClinVar dbSNP |
19 | g.11120467_11120485del | CA10585763 | LDLR | c.2343_2361del (p.Ala783CysfsTer6) c.*154_*172del (n.*154_*172del) c.1965_1983del (p.Ala657CysfsTer6) c.2085_2103del (p.Ala697CysfsTer6) c.2339_2357del c.1581_1599del (p.Ala529CysfsTer6) c.1962_1980del (p.Ala656CysfsTer6) c.1606+234_1606+252del (n.1606+234_1606+252del) c.1704_1722del (p.Ala570CysfsTer6) n.2095_2113del n.2202_2220del n.2062_2080del | ClinVar dbSNP |
19 | g.11120467C>A | CA505486572 | LDLR | c.2343C>A (p.Thr781=) c.*154C>A (n.*154C>A) c.1965C>A (p.Thr655=) c.2085C>A (p.Thr695=) c.2339C>A c.1581C>A (p.Thr527=) c.1962C>A (p.Thr654=) c.1606+234C>A (n.1606+234C>A) c.1704C>A (p.Thr568=) n.2095C>A n.2202C>A n.2062C>A | |
19 | g.11120467C>G | CA505486574 | LDLR | c.2343C>G (p.Thr781=) c.*154C>G (n.*154C>G) c.1965C>G (p.Thr655=) c.2085C>G (p.Thr695=) c.2339C>G c.1581C>G (p.Thr527=) c.1962C>G (p.Thr654=) c.1606+234C>G (n.1606+234C>G) c.1704C>G (p.Thr568=) n.2095C>G n.2202C>G n.2062C>G | |
19 | g.11120467C>T | CA505486576 | LDLR | c.2343C>T (p.Thr781=) c.*154C>T (n.*154C>T) c.1965C>T (p.Thr655=) c.2085C>T (p.Thr695=) c.2339C>T c.1581C>T (p.Thr527=) c.1962C>T (p.Thr654=) c.1606+234C>T (n.1606+234C>T) c.1704C>T (p.Thr568=) n.2095C>T n.2202C>T n.2062C>T | ClinVar |
19 | g.11120468T>A | CA404093862 | LDLR | c.2344T>A (p.Cys782Ser) c.*155T>A (n.*155T>A) c.1966T>A (p.Cys656Ser) c.2086T>A (p.Cys696Ser) c.2340T>A c.1582T>A (p.Cys528Ser) c.1963T>A (p.Cys655Ser) c.1606+235T>A (n.1606+235T>A) c.1705T>A (p.Cys569Ser) n.2096T>A n.2203T>A n.2063T>A | ClinVar |
19 | g.11120468T>C | CA404093864 | LDLR | c.2344T>C (p.Cys782Arg) c.*155T>C (n.*155T>C) c.1966T>C (p.Cys656Arg) c.2086T>C (p.Cys696Arg) c.2340T>C c.1582T>C (p.Cys528Arg) c.1963T>C (p.Cys655Arg) c.1606+235T>C (n.1606+235T>C) c.1705T>C (p.Cys569Arg) n.2096T>C n.2203T>C n.2063T>C | ClinVar dbSNP |
19 | g.11120468T>G | CA404093866 | LDLR | c.2344T>G (p.Cys782Gly) c.*155T>G (n.*155T>G) c.1966T>G (p.Cys656Gly) c.2086T>G (p.Cys696Gly) c.2340T>G c.1582T>G (p.Cys528Gly) c.1963T>G (p.Cys655Gly) c.1606+235T>G (n.1606+235T>G) c.1705T>G (p.Cys569Gly) n.2096T>G n.2203T>G n.2063T>G | ClinVar |
19 | g.11120468T= | CA2322775623 | LDLR | c.2344T= (p.Cys782=) c.*155T= (n.*155T=) c.1966T= (p.Cys656=) c.2086T= (p.Cys696=) c.2340T= c.1582T= (p.Cys528=) c.1963T= (p.Cys655=) c.1606+235T= (n.1606+235T=) c.1705T= (p.Cys569=) n.2096T= n.2203T= n.2063T= | |
19 | g.11120469G>A | CA10585764 | LDLR | c.2345G>A (p.Cys782Tyr) c.*156G>A (n.*156G>A) c.1967G>A (p.Cys656Tyr) c.2087G>A (p.Cys696Tyr) c.2341G>A c.1583G>A (p.Cys528Tyr) c.1964G>A (p.Cys655Tyr) c.1606+236G>A (n.1606+236G>A) c.1706G>A (p.Cys569Tyr) n.2097G>A n.2204G>A n.2064G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120469G>C | CA404093870 | LDLR | c.2345G>C (p.Cys782Ser) c.*156G>C (n.*156G>C) c.1967G>C (p.Cys656Ser) c.2087G>C (p.Cys696Ser) c.2341G>C c.1583G>C (p.Cys528Ser) c.1964G>C (p.Cys655Ser) c.1606+236G>C (n.1606+236G>C) c.1706G>C (p.Cys569Ser) n.2097G>C n.2204G>C n.2064G>C | |
19 | g.11120469G= | CA2322775624 | LDLR | c.2345G= (p.Cys782=) c.*156G= (n.*156G=) c.1967G= (p.Cys656=) c.2087G= (p.Cys696=) c.2341G= c.1583G= (p.Cys528=) c.1964G= (p.Cys655=) c.1606+236G= (n.1606+236G=) c.1706G= (p.Cys569=) n.2097G= n.2204G= n.2064G= | |
19 | g.11120469G>T | CA404093868 | LDLR | c.2345G>T (p.Cys782Phe) c.*156G>T (n.*156G>T) c.1967G>T (p.Cys656Phe) c.2087G>T (p.Cys696Phe) c.2341G>T c.1583G>T (p.Cys528Phe) c.1964G>T (p.Cys655Phe) c.1606+236G>T (n.1606+236G>T) c.1706G>T (p.Cys569Phe) n.2097G>T n.2204G>T n.2064G>T | ClinVar dbSNP |
19 | g.11120470C>A | CA10585765 | LDLR | c.2346C>A (p.Cys782Ter) c.*157C>A (n.*157C>A) c.1968C>A (p.Cys656Ter) c.2088C>A (p.Cys696Ter) c.2342C>A c.1584C>A (p.Cys528Ter) c.1965C>A (p.Cys655Ter) c.1606+237C>A (n.1606+237C>A) c.1707C>A (p.Cys569Ter) n.2098C>A n.2205C>A n.2065C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120470C= | CA2322775625 | LDLR | c.2346C= (p.Cys782=) c.*157C= (n.*157C=) c.1968C= (p.Cys656=) c.2088C= (p.Cys696=) c.2342C= c.1584C= (p.Cys528=) c.1965C= (p.Cys655=) c.1606+237C= (n.1606+237C=) c.1707C= (p.Cys569=) n.2098C= n.2205C= n.2065C= | |
19 | g.11120470C>G | CA10585766 | LDLR | c.2346C>G (p.Cys782Trp) c.*157C>G (n.*157C>G) c.1968C>G (p.Cys656Trp) c.2088C>G (p.Cys696Trp) c.2342C>G c.1584C>G (p.Cys528Trp) c.1965C>G (p.Cys655Trp) c.1606+237C>G (n.1606+237C>G) c.1707C>G (p.Cys569Trp) n.2098C>G n.2205C>G n.2065C>G | ClinVar dbSNP |
19 | g.11120470C>T | CA038494 | LDLR | c.2346C>T (p.Cys782=) c.*157C>T (n.*157C>T) c.1968C>T (p.Cys656=) c.2088C>T (p.Cys696=) c.2342C>T c.1584C>T (p.Cys528=) c.1965C>T (p.Cys655=) c.1606+237C>T (n.1606+237C>T) c.1707C>T (p.Cys569=) n.2098C>T n.2205C>T n.2065C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120471G>A | CA038513 | LDLR | c.2347G>A (p.Ala783Thr) c.*158G>A (n.*158G>A) c.1969G>A (p.Ala657Thr) c.2089G>A (p.Ala697Thr) c.2343G>A c.1585G>A (p.Ala529Thr) c.1966G>A (p.Ala656Thr) c.1606+238G>A (n.1606+238G>A) c.1708G>A (p.Ala570Thr) n.2099G>A n.2206G>A n.2066G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120471G>C | CA10585767 | LDLR | c.2347G>C (p.Ala783Pro) c.*158G>C (n.*158G>C) c.1969G>C (p.Ala657Pro) c.2089G>C (p.Ala697Pro) c.2343G>C c.1585G>C (p.Ala529Pro) c.1966G>C (p.Ala656Pro) c.1606+238G>C (n.1606+238G>C) c.1708G>C (p.Ala570Pro) n.2099G>C n.2206G>C n.2066G>C | ClinVar dbSNP |
19 | g.11120471G= | CA2322775626 | LDLR | c.2347G= (p.Ala783=) c.*158G= (n.*158G=) c.1969G= (p.Ala657=) c.2089G= (p.Ala697=) c.2343G= c.1585G= (p.Ala529=) c.1966G= (p.Ala656=) c.1606+238G= (n.1606+238G=) c.1708G= (p.Ala570=) n.2099G= n.2206G= n.2066G= | |
19 | g.11120471G>T | CA404093880 | LDLR | c.2347G>T (p.Ala783Ser) c.*158G>T (n.*158G>T) c.1969G>T (p.Ala657Ser) c.2089G>T (p.Ala697Ser) c.2343G>T c.1585G>T (p.Ala529Ser) c.1966G>T (p.Ala656Ser) c.1606+238G>T (n.1606+238G>T) c.1708G>T (p.Ala570Ser) n.2099G>T n.2206G>T n.2066G>T | |
19 | g.11120472C>A | CA404093882 | LDLR | c.2348C>A (p.Ala783Asp) c.*159C>A (n.*159C>A) c.1970C>A (p.Ala657Asp) c.2090C>A (p.Ala697Asp) c.2344C>A c.1586C>A (p.Ala529Asp) c.1967C>A (p.Ala656Asp) c.1606+239C>A (n.1606+239C>A) c.1709C>A (p.Ala570Asp) n.2100C>A n.2207C>A n.2067C>A | |
19 | g.11120472C>G | CA404093884 | LDLR | c.2348C>G (p.Ala783Gly) c.*159C>G (n.*159C>G) c.1970C>G (p.Ala657Gly) c.2090C>G (p.Ala697Gly) c.2344C>G c.1586C>G (p.Ala529Gly) c.1967C>G (p.Ala656Gly) c.1606+239C>G (n.1606+239C>G) c.1709C>G (p.Ala570Gly) n.2100C>G n.2207C>G n.2067C>G | |
19 | g.11120472C>T | CA404093887 | LDLR | c.2348C>T (p.Ala783Val) c.*159C>T (n.*159C>T) c.1970C>T (p.Ala657Val) c.2090C>T (p.Ala697Val) c.2344C>T c.1586C>T (p.Ala529Val) c.1967C>T (p.Ala656Val) c.1606+239C>T (n.1606+239C>T) c.1709C>T (p.Ala570Val) n.2100C>T n.2207C>T n.2067C>T | gnomAD v4 |
19 | g.11120473C>A | CA505486581 | LDLR | c.2349C>A (p.Ala783=) c.*160C>A (n.*160C>A) c.1971C>A (p.Ala657=) c.2091C>A (p.Ala697=) c.2345C>A c.1587C>A (p.Ala529=) c.1968C>A (p.Ala656=) c.1606+240C>A (n.1606+240C>A) c.1710C>A (p.Ala570=) n.2101C>A n.2208C>A n.2068C>A | |
19 | g.11120473C>G | CA505486582 | LDLR | c.2349C>G (p.Ala783=) c.*160C>G (n.*160C>G) c.1971C>G (p.Ala657=) c.2091C>G (p.Ala697=) c.2345C>G c.1587C>G (p.Ala529=) c.1968C>G (p.Ala656=) c.1606+240C>G (n.1606+240C>G) c.1710C>G (p.Ala570=) n.2101C>G n.2208C>G n.2068C>G | |
19 | g.11120473C>T | CA505486583 | LDLR | c.2349C>T (p.Ala783=) c.*160C>T (n.*160C>T) c.1971C>T (p.Ala657=) c.2091C>T (p.Ala697=) c.2345C>T c.1587C>T (p.Ala529=) c.1968C>T (p.Ala656=) c.1606+240C>T (n.1606+240C>T) c.1710C>T (p.Ala570=) n.2101C>T n.2208C>T n.2068C>T | ClinVar |
19 | g.11120473_11120474delinsCT | CA2322775627 | LDLR | c.2349_2350delinsCT (p.Ala783=) c.*160_*161delinsCT (n.*160_*161delinsCT) c.1971_1972delinsCT (p.Ala657=) c.2091_2092delinsCT (p.Ala697=) c.2345_2346delinsCT c.1587_1588delinsCT (p.Ala529=) c.1968_1969delinsCT (p.Ala656=) c.1606+240_1606+241delinsCT (n.1606+240_1606+241delinsCT) c.1710_1711delinsCT (p.Ala570=) n.2101_2102delinsCT n.2208_2209delinsCT n.2068_2069delinsCT | |
19 | g.11120474del | CA10585768 | LDLR | c.2350del (p.Cys784AlafsTer11) c.*161del (n.*161del) c.1972del (p.Cys658AlafsTer11) c.2092del (p.Cys698AlafsTer11) c.2346del c.1588del (p.Cys530AlafsTer11) c.1969del (p.Cys657AlafsTer11) c.1606+241del (n.1606+241del) c.1711del (p.Cys571AlafsTer11) n.2102del n.2209del n.2069del | ClinVar dbSNP |
19 | g.11120474T>A | CA404093894 | LDLR | c.2350T>A (p.Cys784Ser) c.*161T>A (n.*161T>A) c.1972T>A (p.Cys658Ser) c.2092T>A (p.Cys698Ser) c.2346T>A c.1588T>A (p.Cys530Ser) c.1969T>A (p.Cys657Ser) c.1606+241T>A (n.1606+241T>A) c.1711T>A (p.Cys571Ser) n.2102T>A n.2209T>A n.2069T>A | |
19 | g.11120474T>C | CA404093892 | LDLR | c.2350T>C (p.Cys784Arg) c.*161T>C (n.*161T>C) c.1972T>C (p.Cys658Arg) c.2092T>C (p.Cys698Arg) c.2346T>C c.1588T>C (p.Cys530Arg) c.1969T>C (p.Cys657Arg) c.1606+241T>C (n.1606+241T>C) c.1711T>C (p.Cys571Arg) n.2102T>C n.2209T>C n.2069T>C | ClinVar |
19 | g.11120474T>G | CA404093896 | LDLR | c.2350T>G (p.Cys784Gly) c.*161T>G (n.*161T>G) c.1972T>G (p.Cys658Gly) c.2092T>G (p.Cys698Gly) c.2346T>G c.1588T>G (p.Cys530Gly) c.1969T>G (p.Cys657Gly) c.1606+241T>G (n.1606+241T>G) c.1711T>G (p.Cys571Gly) n.2102T>G n.2209T>G n.2069T>G | ClinVar dbSNP |
19 | g.11120474T= | CA2322775628 | LDLR | c.2350T= (p.Cys784=) c.*161T= (n.*161T=) c.1972T= (p.Cys658=) c.2092T= (p.Cys698=) c.2346T= c.1588T= (p.Cys530=) c.1969T= (p.Cys657=) c.1606+241T= (n.1606+241T=) c.1711T= (p.Cys571=) n.2102T= n.2209T= n.2069T= | |
19 | g.11120475G>A | CA10585769 | LDLR | c.2351G>A (p.Cys784Tyr) c.*162G>A (n.*162G>A) c.1973G>A (p.Cys658Tyr) c.2093G>A (p.Cys698Tyr) c.2347G>A c.1589G>A (p.Cys530Tyr) c.1970G>A (p.Cys657Tyr) c.1606+242G>A (n.1606+242G>A) c.1712G>A (p.Cys571Tyr) n.2103G>A n.2210G>A n.2070G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11120475G>C | CA404093899 | LDLR | c.2351G>C (p.Cys784Ser) c.*162G>C (n.*162G>C) c.1973G>C (p.Cys658Ser) c.2093G>C (p.Cys698Ser) c.2347G>C c.1589G>C (p.Cys530Ser) c.1970G>C (p.Cys657Ser) c.1606+242G>C (n.1606+242G>C) c.1712G>C (p.Cys571Ser) n.2103G>C n.2210G>C n.2070G>C | ClinVar dbSNP |
19 | g.11120475G= | CA2322775630 | LDLR | c.2351G= (p.Cys784=) c.*162G= (n.*162G=) c.1973G= (p.Cys658=) c.2093G= (p.Cys698=) c.2347G= c.1589G= (p.Cys530=) c.1970G= (p.Cys657=) c.1606+242G= (n.1606+242G=) c.1712G= (p.Cys571=) n.2103G= n.2210G= n.2070G= | |
19 | g.11120475G>T | CA10585770 | LDLR | c.2351G>T (p.Cys784Phe) c.*162G>T (n.*162G>T) c.1973G>T (p.Cys658Phe) c.2093G>T (p.Cys698Phe) c.2347G>T c.1589G>T (p.Cys530Phe) c.1970G>T (p.Cys657Phe) c.1606+242G>T (n.1606+242G>T) c.1712G>T (p.Cys571Phe) n.2103G>T n.2210G>T n.2070G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11120475_11120476delinsGC | CA2322775629 | LDLR | c.2351_2352delinsGC (p.Cys784=) c.*162_*163delinsGC (n.*162_*163delinsGC) c.1973_1974delinsGC (p.Cys658=) c.2093_2094delinsGC (p.Cys698=) c.2347_2348delinsGC c.1589_1590delinsGC (p.Cys530=) c.1970_1971delinsGC (p.Cys657=) c.1606+242_1606+243delinsGC (n.1606+242_1606+243delinsGC) c.1712_1713delinsGC (p.Cys571=) n.2103_2104delinsGC n.2210_2211delinsGC n.2070_2071delinsGC | |
19 | g.11120476C>A | CA404093903 | LDLR | c.2352C>A (p.Cys784Ter) c.*163C>A (n.*163C>A) c.1974C>A (p.Cys658Ter) c.2094C>A (p.Cys698Ter) c.2348C>A c.1590C>A (p.Cys530Ter) c.1971C>A (p.Cys657Ter) c.1606+243C>A (n.1606+243C>A) c.1713C>A (p.Cys571Ter) n.2104C>A n.2211C>A n.2071C>A | ClinVar |
19 | g.11120476C= | CA2322775631 | LDLR | c.2352C= (p.Cys784=) c.*163C= (n.*163C=) c.1974C= (p.Cys658=) c.2094C= (p.Cys698=) c.2348C= c.1590C= (p.Cys530=) c.1971C= (p.Cys657=) c.1606+243C= (n.1606+243C=) c.1713C= (p.Cys571=) n.2104C= n.2211C= n.2071C= | |
19 | g.11120476C>G | CA10585771 | LDLR | c.2352C>G (p.Cys784Trp) c.*163C>G (n.*163C>G) c.1974C>G (p.Cys658Trp) c.2094C>G (p.Cys698Trp) c.2348C>G c.1590C>G (p.Cys530Trp) c.1971C>G (p.Cys657Trp) c.1606+243C>G (n.1606+243C>G) c.1713C>G (p.Cys571Trp) n.2104C>G n.2211C>G n.2071C>G | ClinVar dbSNP |
19 | g.11120476C>T | CA505486585 | LDLR | c.2352C>T (p.Cys784=) c.*163C>T (n.*163C>T) c.1974C>T (p.Cys658=) c.2094C>T (p.Cys698=) c.2348C>T c.1590C>T (p.Cys530=) c.1971C>T (p.Cys657=) c.1606+243C>T (n.1606+243C>T) c.1713C>T (p.Cys571=) n.2104C>T n.2211C>T n.2071C>T | |
19 | g.11120478del | CA10585772 | LDLR | c.2354del (p.Pro785ArgfsTer10) c.*165del (n.*165del) c.1976del (p.Pro659ArgfsTer10) c.2096del (p.Pro699ArgfsTer10) c.2350del c.1592del (p.Pro531ArgfsTer10) c.1973del (p.Pro658ArgfsTer10) c.1606+245del (n.1606+245del) c.1715del (p.Pro572ArgfsTer10) n.2106del n.2213del n.2073del | ClinVar dbSNP |
19 | g.11120477C>A | CA404093909 | LDLR | c.2353C>A (p.Pro785Thr) c.*164C>A (n.*164C>A) c.1975C>A (p.Pro659Thr) c.2095C>A (p.Pro699Thr) c.2349C>A c.1591C>A (p.Pro531Thr) c.1972C>A (p.Pro658Thr) c.1606+244C>A (n.1606+244C>A) c.1714C>A (p.Pro572Thr) n.2105C>A n.2212C>A n.2072C>A | |
19 | g.11120477C>G | CA404093910 | LDLR | c.2353C>G (p.Pro785Ala) c.*164C>G (n.*164C>G) c.1975C>G (p.Pro659Ala) c.2095C>G (p.Pro699Ala) c.2349C>G c.1591C>G (p.Pro531Ala) c.1972C>G (p.Pro658Ala) c.1606+244C>G (n.1606+244C>G) c.1714C>G (p.Pro572Ala) n.2105C>G n.2212C>G n.2072C>G | |
19 | g.11120477C>T | CA404093912 | LDLR | c.2353C>T (p.Pro785Ser) c.*164C>T (n.*164C>T) c.1975C>T (p.Pro659Ser) c.2095C>T (p.Pro699Ser) c.2349C>T c.1591C>T (p.Pro531Ser) c.1972C>T (p.Pro658Ser) c.1606+244C>T (n.1606+244C>T) c.1714C>T (p.Pro572Ser) n.2105C>T n.2212C>T n.2072C>T | ClinVar gnomAD v4 |
19 | g.11120478C>A | CA404093915 | LDLR | c.2354C>A (p.Pro785Gln) c.*165C>A (n.*165C>A) c.1976C>A (p.Pro659Gln) c.2096C>A (p.Pro699Gln) c.2350C>A c.1592C>A (p.Pro531Gln) c.1973C>A (p.Pro658Gln) c.1606+245C>A (n.1606+245C>A) c.1715C>A (p.Pro572Gln) n.2106C>A n.2213C>A n.2073C>A | |
19 | g.11120478C= | CA2322775632 | LDLR | c.2354C= (p.Pro785=) c.*165C= (n.*165C=) c.1976C= (p.Pro659=) c.2096C= (p.Pro699=) c.2350C= c.1592C= (p.Pro531=) c.1973C= (p.Pro658=) c.1606+245C= (n.1606+245C=) c.1715C= (p.Pro572=) n.2106C= n.2213C= n.2073C= | |
19 | g.11120478C>G | CA404093917 | LDLR | c.2354C>G (p.Pro785Arg) c.*165C>G (n.*165C>G) c.1976C>G (p.Pro659Arg) c.2096C>G (p.Pro699Arg) c.2350C>G c.1592C>G (p.Pro531Arg) c.1973C>G (p.Pro658Arg) c.1606+245C>G (n.1606+245C>G) c.1715C>G (p.Pro572Arg) n.2106C>G n.2213C>G n.2073C>G | |
19 | g.11120478C>T | CA038525 | LDLR | c.2354C>T (p.Pro785Leu) c.*165C>T (n.*165C>T) c.1976C>T (p.Pro659Leu) c.2096C>T (p.Pro699Leu) c.2350C>T c.1592C>T (p.Pro531Leu) c.1973C>T (p.Pro658Leu) c.1606+245C>T (n.1606+245C>T) c.1715C>T (p.Pro572Leu) n.2106C>T n.2213C>T n.2073C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120481_11120484dup | CA2580096709 | LDLR | c.2357_2360dup (p.Met788ArgfsTer16) c.*168_*171dup (n.*168_*171dup) c.1979_1982dup (p.Met662ArgfsTer16) c.2099_2102dup (p.Met702ArgfsTer16) c.2353_2356dup c.1595_1598dup (p.Met534ArgfsTer16) c.1976_1979dup (p.Met661ArgfsTer16) c.1606+248_1606+251dup (n.1606+248_1606+251dup) c.1718_1721dup (p.Met575ArgfsTer16) n.2109_2112dup n.2216_2219dup n.2076_2079dup | ClinVar |
19 | g.11120479G>A | CA038535 | LDLR | c.2355G>A (p.Pro785=) c.*166G>A (n.*166G>A) c.1977G>A (p.Pro659=) c.2097G>A (p.Pro699=) c.2351G>A c.1593G>A (p.Pro531=) c.1974G>A (p.Pro658=) c.1606+246G>A (n.1606+246G>A) c.1716G>A (p.Pro572=) n.2107G>A n.2214G>A n.2074G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120479G>C | CA505486590 | LDLR | c.2355G>C (p.Pro785=) c.*166G>C (n.*166G>C) c.1977G>C (p.Pro659=) c.2097G>C (p.Pro699=) c.2351G>C c.1593G>C (p.Pro531=) c.1974G>C (p.Pro658=) c.1606+246G>C (n.1606+246G>C) c.1716G>C (p.Pro572=) n.2107G>C n.2214G>C n.2074G>C | |
19 | g.11120479G= | CA2322775633 | LDLR | c.2355G= (p.Pro785=) c.*166G= (n.*166G=) c.1977G= (p.Pro659=) c.2097G= (p.Pro699=) c.2351G= c.1593G= (p.Pro531=) c.1974G= (p.Pro658=) c.1606+246G= (n.1606+246G=) c.1716G= (p.Pro572=) n.2107G= n.2214G= n.2074G= | |
19 | g.11120479G>T | CA505486591 | LDLR | c.2355G>T (p.Pro785=) c.*166G>T (n.*166G>T) c.1977G>T (p.Pro659=) c.2097G>T (p.Pro699=) c.2351G>T c.1593G>T (p.Pro531=) c.1974G>T (p.Pro658=) c.1606+246G>T (n.1606+246G>T) c.1716G>T (p.Pro572=) n.2107G>T n.2214G>T n.2074G>T | |
19 | g.11120480G>A | CA023633 | LDLR | c.2356G>A (p.Asp786Asn) c.*167G>A (n.*167G>A) c.1978G>A (p.Asp660Asn) c.2098G>A (p.Asp700Asn) c.2352G>A c.1594G>A (p.Asp532Asn) c.1975G>A (p.Asp659Asn) c.1606+247G>A (n.1606+247G>A) c.1717G>A (p.Asp573Asn) n.2108G>A n.2215G>A n.2075G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120480G>C | CA404093919 | LDLR | c.2356G>C (p.Asp786His) c.*167G>C (n.*167G>C) c.1978G>C (p.Asp660His) c.2098G>C (p.Asp700His) c.2352G>C c.1594G>C (p.Asp532His) c.1975G>C (p.Asp659His) c.1606+247G>C (n.1606+247G>C) c.1717G>C (p.Asp573His) n.2108G>C n.2215G>C n.2075G>C | |
19 | g.11120480G= | CA2322775634 | LDLR | c.2356G= (p.Asp786=) c.*167G= (n.*167G=) c.1978G= (p.Asp660=) c.2098G= (p.Asp700=) c.2352G= c.1594G= (p.Asp532=) c.1975G= (p.Asp659=) c.1606+247G= (n.1606+247G=) c.1717G= (p.Asp573=) n.2108G= n.2215G= n.2075G= | |
19 | g.11120480G>T | CA404093920 | LDLR | c.2356G>T (p.Asp786Tyr) c.*167G>T (n.*167G>T) c.1978G>T (p.Asp660Tyr) c.2098G>T (p.Asp700Tyr) c.2352G>T c.1594G>T (p.Asp532Tyr) c.1975G>T (p.Asp659Tyr) c.1606+247G>T (n.1606+247G>T) c.1717G>T (p.Asp573Tyr) n.2108G>T n.2215G>T n.2075G>T | gnomAD v4 |
19 | g.11120481A= | CA2322775635 | LDLR | c.2357A= (p.Asp786=) c.*168A= (n.*168A=) c.1979A= (p.Asp660=) c.2099A= (p.Asp700=) c.2353A= c.1595A= (p.Asp532=) c.1976A= (p.Asp659=) c.1606+248A= (n.1606+248A=) c.1718A= (p.Asp573=) n.2109A= n.2216A= n.2076A= | |
19 | g.11120481A>C | CA404093921 | LDLR | c.2357A>C (p.Asp786Ala) c.*168A>C (n.*168A>C) c.1979A>C (p.Asp660Ala) c.2099A>C (p.Asp700Ala) c.2353A>C c.1595A>C (p.Asp532Ala) c.1976A>C (p.Asp659Ala) c.1606+248A>C (n.1606+248A>C) c.1718A>C (p.Asp573Ala) n.2109A>C n.2216A>C n.2076A>C | |
19 | g.11120481A>G | CA10585773 | LDLR | c.2357A>G (p.Asp786Gly) c.*168A>G (n.*168A>G) c.1979A>G (p.Asp660Gly) c.2099A>G (p.Asp700Gly) c.2353A>G c.1595A>G (p.Asp532Gly) c.1976A>G (p.Asp659Gly) c.1606+248A>G (n.1606+248A>G) c.1718A>G (p.Asp573Gly) n.2109A>G n.2216A>G n.2076A>G | ClinVar dbSNP |
19 | g.11120481A>T | CA404093922 | LDLR | c.2357A>T (p.Asp786Val) c.*168A>T (n.*168A>T) c.1979A>T (p.Asp660Val) c.2099A>T (p.Asp700Val) c.2353A>T c.1595A>T (p.Asp532Val) c.1976A>T (p.Asp659Val) c.1606+248A>T (n.1606+248A>T) c.1718A>T (p.Asp573Val) n.2109A>T n.2216A>T n.2076A>T | |
19 | g.11120482C>A | CA404093923 | LDLR | c.2358C>A (p.Asp786Glu) c.*169C>A (n.*169C>A) c.1980C>A (p.Asp660Glu) c.2100C>A (p.Asp700Glu) c.2354C>A c.1596C>A (p.Asp532Glu) c.1977C>A (p.Asp659Glu) c.1606+249C>A (n.1606+249C>A) c.1719C>A (p.Asp573Glu) n.2110C>A n.2217C>A n.2077C>A | |
19 | g.11120482C= | CA2322775636 | LDLR | c.2358C= (p.Asp786=) c.*169C= (n.*169C=) c.1980C= (p.Asp660=) c.2100C= (p.Asp700=) c.2354C= c.1596C= (p.Asp532=) c.1977C= (p.Asp659=) c.1606+249C= (n.1606+249C=) c.1719C= (p.Asp573=) n.2110C= n.2217C= n.2077C= | |
19 | g.11120482C>G | CA10585774 | LDLR | c.2358C>G (p.Asp786Glu) c.*169C>G (n.*169C>G) c.1980C>G (p.Asp660Glu) c.2100C>G (p.Asp700Glu) c.2354C>G c.1596C>G (p.Asp532Glu) c.1977C>G (p.Asp659Glu) c.1606+249C>G (n.1606+249C>G) c.1719C>G (p.Asp573Glu) n.2110C>G n.2217C>G n.2077C>G | ClinVar dbSNP |
19 | g.11120482C>T | CA038552 | LDLR | c.2358C>T (p.Asp786=) c.*169C>T (n.*169C>T) c.1980C>T (p.Asp660=) c.2100C>T (p.Asp700=) c.2354C>T c.1596C>T (p.Asp532=) c.1977C>T (p.Asp659=) c.1606+249C>T (n.1606+249C>T) c.1719C>T (p.Asp573=) n.2110C>T n.2217C>T n.2077C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120483G>A | CA023635 | LDLR | c.2359G>A (p.Gly787Ser) c.*170G>A (n.*170G>A) c.1981G>A (p.Gly661Ser) c.2101G>A (p.Gly701Ser) c.2355G>A c.1597G>A (p.Gly533Ser) c.1978G>A (p.Gly660Ser) c.1606+250G>A (n.1606+250G>A) c.1720G>A (p.Gly574Ser) n.2111G>A n.2218G>A n.2078G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120483G>C | CA404093924 | LDLR | c.2359G>C (p.Gly787Arg) c.*170G>C (n.*170G>C) c.1981G>C (p.Gly661Arg) c.2101G>C (p.Gly701Arg) c.2355G>C c.1597G>C (p.Gly533Arg) c.1978G>C (p.Gly660Arg) c.1606+250G>C (n.1606+250G>C) c.1720G>C (p.Gly574Arg) n.2111G>C n.2218G>C n.2078G>C | |
19 | g.11120483G= | CA2322775637 | LDLR | c.2359G= (p.Gly787=) c.*170G= (n.*170G=) c.1981G= (p.Gly661=) c.2101G= (p.Gly701=) c.2355G= c.1597G= (p.Gly533=) c.1978G= (p.Gly660=) c.1606+250G= (n.1606+250G=) c.1720G= (p.Gly574=) n.2111G= n.2218G= n.2078G= | |
19 | g.11120483G>T | CA404093925 | LDLR | c.2359G>T (p.Gly787Cys) c.*170G>T (n.*170G>T) c.1981G>T (p.Gly661Cys) c.2101G>T (p.Gly701Cys) c.2355G>T c.1597G>T (p.Gly533Cys) c.1978G>T (p.Gly660Cys) c.1606+250G>T (n.1606+250G>T) c.1720G>T (p.Gly574Cys) n.2111G>T n.2218G>T n.2078G>T | |
19 | g.11120484del | CA2573050620 | LDLR | c.2360del (p.Gly787AlafsTer8) c.*171del (n.*171del) c.1982del (p.Gly661AlafsTer8) c.2102del (p.Gly701AlafsTer8) c.2356del c.1598del (p.Gly533AlafsTer8) c.1979del (p.Gly660AlafsTer8) c.1606+251del (n.1606+251del) c.1721del (p.Gly574AlafsTer8) n.2112del n.2219del n.2079del | |
19 | g.11120484G>A | CA404093927 | LDLR | c.2360G>A (p.Gly787Asp) c.*171G>A (n.*171G>A) c.1982G>A (p.Gly661Asp) c.2102G>A (p.Gly701Asp) c.2356G>A c.1598G>A (p.Gly533Asp) c.1979G>A (p.Gly660Asp) c.1606+251G>A (n.1606+251G>A) c.1721G>A (p.Gly574Asp) n.2112G>A n.2219G>A n.2079G>A | COSMIC |
19 | g.11120484G>C | CA404093928 | LDLR | c.2360G>C (p.Gly787Ala) c.*171G>C (n.*171G>C) c.1982G>C (p.Gly661Ala) c.2102G>C (p.Gly701Ala) c.2356G>C c.1598G>C (p.Gly533Ala) c.1979G>C (p.Gly660Ala) c.1606+251G>C (n.1606+251G>C) c.1721G>C (p.Gly574Ala) n.2112G>C n.2219G>C n.2079G>C | |
19 | g.11120484G>T | CA404093926 | LDLR | c.2360G>T (p.Gly787Val) c.*171G>T (n.*171G>T) c.1982G>T (p.Gly661Val) c.2102G>T (p.Gly701Val) c.2356G>T c.1598G>T (p.Gly533Val) c.1979G>T (p.Gly660Val) c.1606+251G>T (n.1606+251G>T) c.1721G>T (p.Gly574Val) n.2112G>T n.2219G>T n.2079G>T | gnomAD v4 |
19 | g.11120485C>A | CA505486597 | LDLR | c.2361C>A (p.Gly787=) c.*172C>A (n.*172C>A) c.1983C>A (p.Gly661=) c.2103C>A (p.Gly701=) c.2357C>A c.1599C>A (p.Gly533=) c.1980C>A (p.Gly660=) c.1606+252C>A (n.1606+252C>A) c.1722C>A (p.Gly574=) n.2113C>A n.2220C>A n.2080C>A | |
19 | g.11120485C>G | CA505486598 | LDLR | c.2361C>G (p.Gly787=) c.*172C>G (n.*172C>G) c.1983C>G (p.Gly661=) c.2103C>G (p.Gly701=) c.2357C>G c.1599C>G (p.Gly533=) c.1980C>G (p.Gly660=) c.1606+252C>G (n.1606+252C>G) c.1722C>G (p.Gly574=) n.2113C>G n.2220C>G n.2080C>G | |
19 | g.11120485C>T | CA505486600 | LDLR | c.2361C>T (p.Gly787=) c.*172C>T (n.*172C>T) c.1983C>T (p.Gly661=) c.2103C>T (p.Gly701=) c.2357C>T c.1599C>T (p.Gly533=) c.1980C>T (p.Gly660=) c.1606+252C>T (n.1606+252C>T) c.1722C>T (p.Gly574=) n.2113C>T n.2220C>T n.2080C>T | ClinVar dbSNP |
19 | g.11120486A= | CA2322775638 | LDLR | c.2362A= (p.Met788=) c.*173A= (n.*173A=) c.1984A= (p.Met662=) c.2104A= (p.Met702=) c.2358A= c.1600A= (p.Met534=) c.1981A= (p.Met661=) c.1606+253A= (n.1606+253A=) c.1723A= (p.Met575=) n.2114A= n.2221A= n.2081A= | |
19 | g.11120486A>C | CA404093929 | LDLR | c.2362A>C (p.Met788Leu) c.*173A>C (n.*173A>C) c.1984A>C (p.Met662Leu) c.2104A>C (p.Met702Leu) c.2358A>C c.1600A>C (p.Met534Leu) c.1981A>C (p.Met661Leu) c.1606+253A>C (n.1606+253A>C) c.1723A>C (p.Met575Leu) n.2114A>C n.2221A>C n.2081A>C | |
19 | g.11120486A>G | CA038580 | LDLR | c.2362A>G (p.Met788Val) c.*173A>G (n.*173A>G) c.1984A>G (p.Met662Val) c.2104A>G (p.Met702Val) c.2358A>G c.1600A>G (p.Met534Val) c.1981A>G (p.Met661Val) c.1606+253A>G (n.1606+253A>G) c.1723A>G (p.Met575Val) n.2114A>G n.2221A>G n.2081A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120486A>T | CA404093930 | LDLR | c.2362A>T (p.Met788Leu) c.*173A>T (n.*173A>T) c.1984A>T (p.Met662Leu) c.2104A>T (p.Met702Leu) c.2358A>T c.1600A>T (p.Met534Leu) c.1981A>T (p.Met661Leu) c.1606+253A>T (n.1606+253A>T) c.1723A>T (p.Met575Leu) n.2114A>T n.2221A>T n.2081A>T | |
19 | g.11120487T>A | CA404093931 | LDLR | c.2363T>A (p.Met788Lys) c.*174T>A (n.*174T>A) c.1985T>A (p.Met662Lys) c.2105T>A (p.Met702Lys) c.2359T>A c.1601T>A (p.Met534Lys) c.1982T>A (p.Met661Lys) c.1606+254T>A (n.1606+254T>A) c.1724T>A (p.Met575Lys) n.2115T>A n.2222T>A n.2082T>A | |
19 | g.11120487T>C | CA404093932 | LDLR | c.2363T>C (p.Met788Thr) c.*174T>C (n.*174T>C) c.1985T>C (p.Met662Thr) c.2105T>C (p.Met702Thr) c.2359T>C c.1601T>C (p.Met534Thr) c.1982T>C (p.Met661Thr) c.1606+254T>C (n.1606+254T>C) c.1724T>C (p.Met575Thr) n.2115T>C n.2222T>C n.2082T>C | |
19 | g.11120487T>G | CA404093933 | LDLR | c.2363T>G (p.Met788Arg) c.*174T>G (n.*174T>G) c.1985T>G (p.Met662Arg) c.2105T>G (p.Met702Arg) c.2359T>G c.1601T>G (p.Met534Arg) c.1982T>G (p.Met661Arg) c.1606+254T>G (n.1606+254T>G) c.1724T>G (p.Met575Arg) n.2115T>G n.2222T>G n.2082T>G | |
19 | g.11120487_11120494delinsTGCTGCTG | CA2322775639 | LDLR | c.2363_2370delinsTGCTGCTG (p.Met788=) c.*174_*181delinsTGCTGCTG (n.*174_*181delinsTGCTGCTG) c.1985_1992delinsTGCTGCTG (p.Met662=) c.2105_2112delinsTGCTGCTG (p.Met702=) c.2359_2366delinsTGCTGCTG c.1601_1608delinsTGCTGCTG (p.Met534=) c.1982_1989delinsTGCTGCTG (p.Met661=) c.1606+254_1606+261delinsTGCTGCTG (n.1606+254_1606+261delinsTGCTGCTG) c.1724_1731delinsTGCTGCTG (p.Met575=) n.2115_2122delinsTGCTGCTG n.2222_2229delinsTGCTGCTG n.2082_2089delinsTGCTGCTG | |
19 | g.11120488G>A | CA038604 | LDLR | c.2364G>A (p.Met788Ile) c.*175G>A (n.*175G>A) c.1986G>A (p.Met662Ile) c.2106G>A (p.Met702Ile) c.2360G>A c.1602G>A (p.Met534Ile) c.1983G>A (p.Met661Ile) c.1606+255G>A (n.1606+255G>A) c.1725G>A (p.Met575Ile) n.2116G>A n.2223G>A n.2083G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11120488G>C | CA038621 | LDLR | c.2364G>C (p.Met788Ile) c.*175G>C (n.*175G>C) c.1986G>C (p.Met662Ile) c.2106G>C (p.Met702Ile) c.2360G>C c.1602G>C (p.Met534Ile) c.1983G>C (p.Met661Ile) c.1606+255G>C (n.1606+255G>C) c.1725G>C (p.Met575Ile) n.2116G>C n.2223G>C n.2083G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11120488G= | CA2322775640 | LDLR | c.2364G= (p.Met788=) c.*175G= (n.*175G=) c.1986G= (p.Met662=) c.2106G= (p.Met702=) c.2360G= c.1602G= (p.Met534=) c.1983G= (p.Met661=) c.1606+255G= (n.1606+255G=) c.1725G= (p.Met575=) n.2116G= n.2223G= n.2083G= | |
19 | g.11120488G>T | CA404093934 | LDLR | c.2364G>T (p.Met788Ile) c.*175G>T (n.*175G>T) c.1986G>T (p.Met662Ile) c.2106G>T (p.Met702Ile) c.2360G>T c.1602G>T (p.Met534Ile) c.1983G>T (p.Met661Ile) c.1606+255G>T (n.1606+255G>T) c.1725G>T (p.Met575Ile) n.2116G>T n.2223G>T n.2083G>T | |
19 | g.11120490_11120496dup | CA10585776 | LDLR | c.2366_2372dup (p.Arg792AlafsTer13) c.*177_*183dup (n.*177_*183dup) c.1988_1994dup (p.Arg666AlafsTer13) c.2108_2114dup (p.Arg706AlafsTer13) c.2362_2368dup c.1604_1610dup (p.Arg538AlafsTer13) c.1985_1991dup (p.Arg665AlafsTer13) c.1606+257_1606+263dup (n.1606+257_1606+263dup) c.1727_1733dup (p.Arg579AlafsTer13) n.2118_2124dup n.2225_2231dup n.2085_2091dup | ClinVar dbSNP |
19 | g.11120490_11120496del | CA1139666244 | LDLR | c.2366_2372del (p.Leu789ProfsTer4) c.*177_*183del (n.*177_*183del) c.1988_1994del (p.Leu663ProfsTer4) c.2108_2114del (p.Leu703ProfsTer4) c.2362_2368del c.1604_1610del (p.Leu535ProfsTer4) c.1985_1991del (p.Leu662ProfsTer4) c.1606+257_1606+263del (n.1606+257_1606+263del) c.1727_1733del (p.Leu576ProfsTer4) n.2118_2124del n.2225_2231del n.2085_2091del | ClinVar dbSNP |
19 | g.11120489C>A | CA404093935 | LDLR | c.2365C>A (p.Leu789Met) c.*176C>A (n.*176C>A) c.1987C>A (p.Leu663Met) c.2107C>A (p.Leu703Met) c.2361C>A c.1603C>A (p.Leu535Met) c.1984C>A (p.Leu662Met) c.1606+256C>A (n.1606+256C>A) c.1726C>A (p.Leu576Met) n.2117C>A n.2224C>A n.2084C>A | |
19 | g.11120489C= | CA2322775641 | LDLR | c.2365C= (p.Leu789=) c.*176C= (n.*176C=) c.1987C= (p.Leu663=) c.2107C= (p.Leu703=) c.2361C= c.1603C= (p.Leu535=) c.1984C= (p.Leu662=) c.1606+256C= (n.1606+256C=) c.1726C= (p.Leu576=) n.2117C= n.2224C= n.2084C= | |
19 | g.11120489C>G | CA404093936 | LDLR | c.2365C>G (p.Leu789Val) c.*176C>G (n.*176C>G) c.1987C>G (p.Leu663Val) c.2107C>G (p.Leu703Val) c.2361C>G c.1603C>G (p.Leu535Val) c.1984C>G (p.Leu662Val) c.1606+256C>G (n.1606+256C>G) c.1726C>G (p.Leu576Val) n.2117C>G n.2224C>G n.2084C>G | |
19 | g.11120489C>T | CA505486604 | LDLR | c.2365C>T (p.Leu789=) c.*176C>T (n.*176C>T) c.1987C>T (p.Leu663=) c.2107C>T (p.Leu703=) c.2361C>T c.1603C>T (p.Leu535=) c.1984C>T (p.Leu662=) c.1606+256C>T (n.1606+256C>T) c.1726C>T (p.Leu576=) n.2117C>T n.2224C>T n.2084C>T | |
19 | g.11120490T>A | CA404093937 | LDLR | c.2366T>A (p.Leu789Gln) c.*177T>A (n.*177T>A) c.1988T>A (p.Leu663Gln) c.2108T>A (p.Leu703Gln) c.2362T>A c.1604T>A (p.Leu535Gln) c.1985T>A (p.Leu662Gln) c.1606+257T>A (n.1606+257T>A) c.1727T>A (p.Leu576Gln) n.2118T>A n.2225T>A n.2085T>A | |
19 | g.11120490T>C | CA404093938 | LDLR | c.2366T>C (p.Leu789Pro) c.*177T>C (n.*177T>C) c.1988T>C (p.Leu663Pro) c.2108T>C (p.Leu703Pro) c.2362T>C c.1604T>C (p.Leu535Pro) c.1985T>C (p.Leu662Pro) c.1606+257T>C (n.1606+257T>C) c.1727T>C (p.Leu576Pro) n.2118T>C n.2225T>C n.2085T>C | |
19 | g.11120490T>G | CA404093939 | LDLR | c.2366T>G (p.Leu789Arg) c.*177T>G (n.*177T>G) c.1988T>G (p.Leu663Arg) c.2108T>G (p.Leu703Arg) c.2362T>G c.1604T>G (p.Leu535Arg) c.1985T>G (p.Leu662Arg) c.1606+257T>G (n.1606+257T>G) c.1727T>G (p.Leu576Arg) n.2118T>G n.2225T>G n.2085T>G | |
19 | g.11120490_11120493dup | CA10585775 | LDLR | c.2366_2369dup (p.Arg792GlyfsTer12) c.*177_*180dup (n.*177_*180dup) c.1988_1991dup (p.Arg666GlyfsTer12) c.2108_2111dup (p.Arg706GlyfsTer12) c.2362_2365dup c.1604_1607dup (p.Arg538GlyfsTer12) c.1985_1988dup (p.Arg665GlyfsTer12) c.1606+257_1606+260dup (n.1606+257_1606+260dup) c.1727_1730dup (p.Arg579GlyfsTer12) n.2118_2121dup n.2225_2228dup n.2085_2088dup | ClinVar dbSNP |
19 | g.11120491G>A | CA038644 | LDLR | c.2367G>A (p.Leu789=) c.*178G>A (n.*178G>A) c.1989G>A (p.Leu663=) c.2109G>A (p.Leu703=) c.2363G>A c.1605G>A (p.Leu535=) c.1986G>A (p.Leu662=) c.1606+258G>A (n.1606+258G>A) c.1728G>A (p.Leu576=) n.2119G>A n.2226G>A n.2086G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120491G>C | CA505486608 | LDLR | c.2367G>C (p.Leu789=) c.*178G>C (n.*178G>C) c.1989G>C (p.Leu663=) c.2109G>C (p.Leu703=) c.2363G>C c.1605G>C (p.Leu535=) c.1986G>C (p.Leu662=) c.1606+258G>C (n.1606+258G>C) c.1728G>C (p.Leu576=) n.2119G>C n.2226G>C n.2086G>C | |
19 | g.11120491G= | CA2322775642 | LDLR | c.2367G= (p.Leu789=) c.*178G= (n.*178G=) c.1989G= (p.Leu663=) c.2109G= (p.Leu703=) c.2363G= c.1605G= (p.Leu535=) c.1986G= (p.Leu662=) c.1606+258G= (n.1606+258G=) c.1728G= (p.Leu576=) n.2119G= n.2226G= n.2086G= | |
19 | g.11120491G>T | CA505486609 | LDLR | c.2367G>T (p.Leu789=) c.*178G>T (n.*178G>T) c.1989G>T (p.Leu663=) c.2109G>T (p.Leu703=) c.2363G>T c.1605G>T (p.Leu535=) c.1986G>T (p.Leu662=) c.1606+258G>T (n.1606+258G>T) c.1728G>T (p.Leu576=) n.2119G>T n.2226G>T n.2086G>T | |
19 | g.11120492C>A | CA404093940 | LDLR | c.2368C>A (p.Leu790Met) c.*179C>A (n.*179C>A) c.1990C>A (p.Leu664Met) c.2110C>A (p.Leu704Met) c.2364C>A c.1606C>A (p.Leu536Met) c.1987C>A (p.Leu663Met) c.1606+259C>A (n.1606+259C>A) c.1729C>A (p.Leu577Met) n.2120C>A n.2227C>A n.2087C>A | |
19 | g.11120492C= | CA2322775643 | LDLR | c.2368C= (p.Leu790=) c.*179C= (n.*179C=) c.1990C= (p.Leu664=) c.2110C= (p.Leu704=) c.2364C= c.1606C= (p.Leu536=) c.1987C= (p.Leu663=) c.1606+259C= (n.1606+259C=) c.1729C= (p.Leu577=) n.2120C= n.2227C= n.2087C= | |
19 | g.11120492C>G | CA404093941 | LDLR | c.2368C>G (p.Leu790Val) c.*179C>G (n.*179C>G) c.1990C>G (p.Leu664Val) c.2110C>G (p.Leu704Val) c.2364C>G c.1606C>G (p.Leu536Val) c.1987C>G (p.Leu663Val) c.1606+259C>G (n.1606+259C>G) c.1729C>G (p.Leu577Val) n.2120C>G n.2227C>G n.2087C>G | |
19 | g.11120492C>T | CA505486615 | LDLR | c.2368C>T (p.Leu790=) c.*179C>T (n.*179C>T) c.1990C>T (p.Leu664=) c.2110C>T (p.Leu704=) c.2364C>T c.1606C>T (p.Leu536=) c.1987C>T (p.Leu663=) c.1606+259C>T (n.1606+259C>T) c.1729C>T (p.Leu577=) n.2120C>T n.2227C>T n.2087C>T | ClinVar dbSNP |
19 | g.11120493T>A | CA404093944 | LDLR | c.2369T>A (p.Leu790Gln) c.*180T>A (n.*180T>A) c.1991T>A (p.Leu664Gln) c.2111T>A (p.Leu704Gln) c.2365T>A c.1607T>A (p.Leu536Gln) c.1988T>A (p.Leu663Gln) c.1606+260T>A (n.1606+260T>A) c.1730T>A (p.Leu577Gln) n.2121T>A n.2228T>A n.2088T>A | |
19 | g.11120493T>C | CA404093942 | LDLR | c.2369T>C (p.Leu790Pro) c.*180T>C (n.*180T>C) c.1991T>C (p.Leu664Pro) c.2111T>C (p.Leu704Pro) c.2365T>C c.1607T>C (p.Leu536Pro) c.1988T>C (p.Leu663Pro) c.1606+260T>C (n.1606+260T>C) c.1730T>C (p.Leu577Pro) n.2121T>C n.2228T>C n.2088T>C | gnomAD v4 |
19 | g.11120493T>G | CA404093943 | LDLR | c.2369T>G (p.Leu790Arg) c.*180T>G (n.*180T>G) c.1991T>G (p.Leu664Arg) c.2111T>G (p.Leu704Arg) c.2365T>G c.1607T>G (p.Leu536Arg) c.1988T>G (p.Leu663Arg) c.1606+260T>G (n.1606+260T>G) c.1730T>G (p.Leu577Arg) n.2121T>G n.2228T>G n.2088T>G | |
19 | g.11120493_11120494delinsTG | CA2322775644 | LDLR | c.2369_2370delinsTG (p.Leu790=) c.*180_*181delinsTG (n.*180_*181delinsTG) c.1991_1992delinsTG (p.Leu664=) c.2111_2112delinsTG (p.Leu704=) c.2365_2366delinsTG c.1607_1608delinsTG (p.Leu536=) c.1988_1989delinsTG (p.Leu663=) c.1606+260_1606+261delinsTG (n.1606+260_1606+261delinsTG) c.1730_1731delinsTG (p.Leu577=) n.2121_2122delinsTG n.2228_2229delinsTG n.2088_2089delinsTG | |
19 | g.11120494G>A | CA505486616 | LDLR | c.2370G>A (p.Leu790=) c.*181G>A (n.*181G>A) c.1992G>A (p.Leu664=) c.2112G>A (p.Leu704=) c.2366G>A c.1608G>A (p.Leu536=) c.1989G>A (p.Leu663=) c.1606+261G>A (n.1606+261G>A) c.1731G>A (p.Leu577=) n.2122G>A n.2229G>A n.2089G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11120494G>C | CA505486617 | LDLR | c.2370G>C (p.Leu790=) c.*181G>C (n.*181G>C) c.1992G>C (p.Leu664=) c.2112G>C (p.Leu704=) c.2366G>C c.1608G>C (p.Leu536=) c.1989G>C (p.Leu663=) c.1606+261G>C (n.1606+261G>C) c.1731G>C (p.Leu577=) n.2122G>C n.2229G>C n.2089G>C | |
19 | g.11120494G= | CA2322775645 | LDLR | c.2370G= (p.Leu790=) c.*181G= (n.*181G=) c.1992G= (p.Leu664=) c.2112G= (p.Leu704=) c.2366G= c.1608G= (p.Leu536=) c.1989G= (p.Leu663=) c.1606+261G= (n.1606+261G=) c.1731G= (p.Leu577=) n.2122G= n.2229G= n.2089G= | |
19 | g.11120494G>T | CA505486619 | LDLR | c.2370G>T (p.Leu790=) c.*181G>T (n.*181G>T) c.1992G>T (p.Leu664=) c.2112G>T (p.Leu704=) c.2366G>T c.1608G>T (p.Leu536=) c.1989G>T (p.Leu663=) c.1606+261G>T (n.1606+261G>T) c.1731G>T (p.Leu577=) n.2122G>T n.2229G>T n.2089G>T | |
19 | g.11120495del | CA916081230 | LDLR | c.2371del (p.Ala791ProfsTer4) c.*182del (n.*182del) c.1993del (p.Ala665ProfsTer4) c.2113del (p.Ala705ProfsTer4) c.2367del c.1609del (p.Ala537ProfsTer4) c.1990del (p.Ala664ProfsTer4) c.1606+262del (n.1606+262del) c.1732del (p.Ala578ProfsTer4) n.2123del n.2230del n.2090del | ClinVar dbSNP |
19 | g.11120495G>A | CA404093945 | LDLR | c.2371G>A (p.Ala791Thr) c.*182G>A (n.*182G>A) c.1993G>A (p.Ala665Thr) c.2113G>A (p.Ala705Thr) c.2367G>A c.1609G>A (p.Ala537Thr) c.1990G>A (p.Ala664Thr) c.1606+262G>A (n.1606+262G>A) c.1732G>A (p.Ala578Thr) n.2123G>A n.2230G>A n.2090G>A | gnomAD v4 |
19 | g.11120495G>C | CA023637 | LDLR | c.2371G>C (p.Ala791Pro) c.*182G>C (n.*182G>C) c.1993G>C (p.Ala665Pro) c.2113G>C (p.Ala705Pro) c.2367G>C c.1609G>C (p.Ala537Pro) c.1990G>C (p.Ala664Pro) c.1606+262G>C (n.1606+262G>C) c.1732G>C (p.Ala578Pro) n.2123G>C n.2230G>C n.2090G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120495G= | CA2322775646 | LDLR | c.2371G= (p.Ala791=) c.*182G= (n.*182G=) c.1993G= (p.Ala665=) c.2113G= (p.Ala705=) c.2367G= c.1609G= (p.Ala537=) c.1990G= (p.Ala664=) c.1606+262G= (n.1606+262G=) c.1732G= (p.Ala578=) n.2123G= n.2230G= n.2090G= | |
19 | g.11120495G>T | CA10585777 | LDLR | c.2371G>T (p.Ala791Ser) c.*182G>T (n.*182G>T) c.1993G>T (p.Ala665Ser) c.2113G>T (p.Ala705Ser) c.2367G>T c.1609G>T (p.Ala537Ser) c.1990G>T (p.Ala664Ser) c.1606+262G>T (n.1606+262G>T) c.1732G>T (p.Ala578Ser) n.2123G>T n.2230G>T n.2090G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |