| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113244_11120565del | CA2695195458 | LDLR | c.1445-34_2398+43del c.1187-34_*209+43del c.1067-34_2020+43del c.1187-34_2140+43del c.1441-34_2394+43del c.683-34_1636+43del c.1064-34_2017+43del c.806-34_1606+332del c.806-34_1759+43del n.1337-34_2150+43del n.1304-34_2300del n.1304-34_2117+43del | |
| 19 | g.11113288_11123238del | CA10585350 | LDLR | c.1455_2463del c.1197_*274del c.1077_2085del c.1197_2205del c.1451_2459del c.693_1701del c.1074_2082del c.816_1671del c.816_1824del n.1347_2215del n.1314_2539del n.1314_2182del | ClinVar |
| 19 | g.11117913_11122676del | CA10576322 | LDLR | c.2103+915_2399-498del c.1705+1701_*210-498del c.1725+915_2021-498del c.1845+915_2141-498del c.2099+915_2395-498del c.1341+915_1637-498del c.1722+915_2018-498del c.1464+915_1607-498del c.1464+915_1760-498del n.1855+1701_2151-498del n.1962+915_2475-498del n.1822+1701_2118-498del | ClinVar |
| 19 | g.11118198_11122020del | CA2573050614 | LDLR | c.2103+1200_2399-1154del c.1706-1894_*210-1154del c.1725+1200_2021-1154del c.1845+1200_2141-1154del c.2099+1200_2395-1154del c.1341+1200_1637-1154del c.1722+1200_2018-1154del c.1464+1200_1607-1154del c.1464+1200_1760-1154del n.1856-1894_2151-1154del n.1962+1200_2475-1154del n.1823-1894_2118-1154del | |
| 19 | g.11120093_11123345del | CA2695202625 | LDLR | c.2105_2569+1del c.1707_*380+1del c.1727_2191+1del c.1847_2311+1del c.2101_2565+1del c.1343_1807+1del c.1724_2188+1del c.1466_1777+1del c.1466_1930+1del n.1857_2321+1del n.1964_2645+1del n.1824_2288+1del | |
| 19 | g.11120091_11120523del | CA658824574 | LDLR | c.2104-1_2398+1del c.1706-1_*209+1del c.1726-1_2020+1del c.1846-1_2140+1del c.2100-1_2394+1del c.1342-1_1636+1del c.1723-1_2017+1del c.1465-1_1606+290del c.1465-1_1759+1del n.1856-1_2150+1del n.1963-1_2258del n.1823-1_2117+1del | ClinVar |
| 19 | g.11120091_11123345del | CA658824575 | LDLR | c.2104-1_2569+1del c.1706-1_*380+1del c.1726-1_2191+1del c.1846-1_2311+1del c.2100-1_2565+1del c.1342-1_1807+1del c.1723-1_2188+1del c.1465-1_1777+1del c.1465-1_1930+1del n.1856-1_2321+1del n.1963-1_2645+1del n.1823-1_2288+1del | ClinVar |
| 19 | g.11120137_11124406del | CA250475 | LDLR | c.2149_2569+1062del c.1751_*380+1062del c.1771_2191+1062del c.1891_2311+1062del c.2145_2565+1062del c.1387_1807+1062del c.1768_2188+1062del c.1510_1777+1062del c.1510_1930+1062del n.1901_2321+1062del n.2008_2645+1062del n.1868_2288+1062del | ClinVar |
| 19 | g.11120137_11124409del | CA916081229 | LDLR | c.2149_2569+1065del c.1751_*380+1065del c.1771_2191+1065del c.1891_2311+1065del c.2145_2565+1065del c.1387_1807+1065del c.1768_2188+1065del c.1510_1777+1065del c.1510_1930+1065del n.1901_2321+1065del n.2008_2645+1065del n.1868_2288+1065del | ClinVar |
| 19 | g.11120137_11124409delinsCTCAGCACTTTGGG | CA2573050615 | LDLR | c.2149_2569+1065delinsCTCAGCACTTTGGG c.1751_*380+1065delinsCTCAGCACTTTGGG c.1771_2191+1065delinsCTCAGCACTTTGGG c.1891_2311+1065delinsCTCAGCACTTTGGG c.2145_2565+1065delinsCTCAGCACTTTGGG c.1387_1807+1065delinsCTCAGCACTTTGGG c.1768_2188+1065delinsCTCAGCACTTTGGG c.1510_1777+1065delinsCTCAGCACTTTGGG c.1510_1930+1065delinsCTCAGCACTTTGGG n.1901_2321+1065delinsCTCAGCACTTTGGG n.2008_2645+1065delinsCTCAGCACTTTGGG n.1868_2288+1065delinsCTCAGCACTTTGGG | |
| 19 | g.11120370_11121586del | CA913189004 | LDLR | c.2246_2398+1064del c.*57_*209+1064del c.1868_2020+1064del c.1988_2140+1064del c.2242_2394+1064del c.1484_1636+1064del c.1865_2017+1064del c.1606+137_1606+1353del (n.1606+137_1606+1353del) c.1607_1759+1064del n.1998_2150+1064del n.2105_2474+847del n.1965_2117+1064del | |
| 19 | g.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.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.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.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.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.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 | 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 |