| 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.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.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 |