Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11120093_11123345delCA2695202625LDLRc.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
19g.11120091_11123345delCA658824575LDLRc.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
19g.11120137_11124406delCA250475LDLRc.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
19g.11120137_11124409delCA916081229LDLRc.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
19g.11120137_11124409delinsCTCAGCACTTTGGGCA2573050615LDLRc.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
19g.11122220_11129195delCA2573320454LDLRc.2399-954_2648-318del
c.*210-954_*459-318del
c.2021-954_2270-318del
c.2141-954_2390-318del
c.2395-954_2644-318del
c.1637-954_1886-318del
c.2018-954_2267-318del
c.1607-954_1856-318del
c.2141-954_2390-256del
c.2141-954_2312-318del
c.1760-954_2009-318del
n.2151-954_2400-318del
n.2475-954_2724-318del
n.2118-954_2367-318del
19g.11123171_11123342delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCACA2322777160LDLRc.2399-3_2567delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.*210-3_*378delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.2021-3_2189delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.2141-3_2309delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.2395-3_2563delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.1637-3_1805delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.2018-3_2186delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.1607-3_1775delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
c.1760-3_1928delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
n.2151-3_2319delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
n.2475-3_2643delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
n.2118-3_2286delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA
19g.11123174_11123344delCA645509293LDLRc.2399_2569del
c.*210_*380del
c.2021_2191del
c.2141_2311del
c.2395_2565del
c.1637_1807del
c.2018_2188del
c.1607_1777del
c.1760_1930del
n.2151_2321del
n.2475_2645del
n.2118_2288del
 ClinVar dbSNP
19g.11123307_11123335delinsGCTCACCACGGTGGAGATAGTGACAATGTCA2322777251LDLRc.2532_2560delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly844=)
c.*343_*371delinsGCTCACCACGGTGGAGATAGTGACAATGT (n.*343_*371delinsGCTCACCACGGTGGAGATAGTGACAATGT)
c.2154_2182delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly718=)
c.2274_2302delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly758=)
c.2528_2556delinsGCTCACCACGGTGGAGATAGTGACAATGT
c.1770_1798delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly590=)
c.2151_2179delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly717=)
c.1740_1768delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly580=)
c.1893_1921delinsGCTCACCACGGTGGAGATAGTGACAATGT (p.Gly631=)
n.2284_2312delinsGCTCACCACGGTGGAGATAGTGACAATGT
n.2608_2636delinsGCTCACCACGGTGGAGATAGTGACAATGT
n.2251_2279delinsGCTCACCACGGTGGAGATAGTGACAATGT
19g.11123315_11123342dupCA2573156030LDLRc.2540_2567dup (p.Gln856HisfsTer21)
c.*351_*378dup (n.*351_*378dup)
c.2162_2189dup (p.Gln730HisfsTer21)
c.2282_2309dup (p.Gln770HisfsTer21)
c.2536_2563dup
c.1778_1805dup (p.Gln602HisfsTer21)
c.2159_2186dup (p.Gln729HisfsTer21)
c.1748_1775dup (p.Gln592HisfsTer21)
c.2282_2309dup (p.Gln770HisfsTer30)
c.1901_1928dup (p.Gln643HisfsTer21)
n.2292_2319dup
n.2616_2643dup
n.2259_2286dup
 ClinVar dbSNP
19g.11123315_11123342delCA658653855LDLRc.2540_2567del (p.Thr847LysfsTer18)
c.*351_*378del (n.*351_*378del)
c.2162_2189del (p.Thr721LysfsTer18)
c.2282_2309del (p.Thr761LysfsTer18)
c.2536_2563del
c.1778_1805del (p.Thr593LysfsTer18)
c.2159_2186del (p.Thr720LysfsTer18)
c.1748_1775del (p.Thr583LysfsTer18)
c.2282_2309del (p.Thr761LysfsTer?)
c.1901_1928del (p.Thr634LysfsTer18)
n.2292_2319del
n.2616_2643del
n.2259_2286del
 ClinVar dbSNP
19g.11123325_11123333delinsAGTGACAATCA2322777263LDLRc.2550_2558delinsAGTGACAAT (p.Ile850=)
c.*361_*369delinsAGTGACAAT (n.*361_*369delinsAGTGACAAT)
c.2172_2180delinsAGTGACAAT (p.Ile724=)
c.2292_2300delinsAGTGACAAT (p.Ile764=)
c.2546_2554delinsAGTGACAAT
c.1788_1796delinsAGTGACAAT (p.Ile596=)
c.2169_2177delinsAGTGACAAT (p.Ile723=)
c.1758_1766delinsAGTGACAAT (p.Ile586=)
c.1911_1919delinsAGTGACAAT (p.Ile637=)
n.2302_2310delinsAGTGACAAT
n.2626_2634delinsAGTGACAAT
n.2269_2277delinsAGTGACAAT
19g.11123328_11123335delCA16602350LDLRc.2553_2560del (p.Thr852SerfsTer13)
c.*364_*371del (n.*364_*371del)
c.2175_2182del (p.Thr726SerfsTer13)
c.2295_2302del (p.Thr766SerfsTer13)
c.2549_2556del
c.1791_1798del (p.Thr598SerfsTer13)
c.2172_2179del (p.Thr725SerfsTer13)
c.1761_1768del (p.Thr588SerfsTer13)
c.2295_2302del (p.Thr766SerfsTer22)
c.1914_1921del (p.Thr639SerfsTer13)
n.2305_2312del
n.2629_2636del
n.2272_2279del
 ClinVar dbSNP
19g.11123328G>ACA505487118LDLRc.2553G>A (p.Val851=)
c.*364G>A (n.*364G>A)
c.2175G>A (p.Val725=)
c.2295G>A (p.Val765=)
c.2549G>A
c.1791G>A (p.Val597=)
c.2172G>A (p.Val724=)
c.1761G>A (p.Val587=)
c.1914G>A (p.Val638=)
n.2305G>A
n.2629G>A
n.2272G>A
 dbSNP gnomAD v2 gnomAD v4
19g.11123328G>CCA505487117LDLRc.2553G>C (p.Val851=)
c.*364G>C (n.*364G>C)
c.2175G>C (p.Val725=)
c.2295G>C (p.Val765=)
c.2549G>C
c.1791G>C (p.Val597=)
c.2172G>C (p.Val724=)
c.1761G>C (p.Val587=)
c.1914G>C (p.Val638=)
n.2305G>C
n.2629G>C
n.2272G>C
19g.11123328G=CA2322777265LDLRc.2553G= (p.Val851=)
c.*364G= (n.*364G=)
c.2175G= (p.Val725=)
c.2295G= (p.Val765=)
c.2549G=
c.1791G= (p.Val597=)
c.2172G= (p.Val724=)
c.1761G= (p.Val587=)
c.1914G= (p.Val638=)
n.2305G=
n.2629G=
n.2272G=
19g.11123328G>TCA505487116LDLRc.2553G>T (p.Val851=)
c.*364G>T (n.*364G>T)
c.2175G>T (p.Val725=)
c.2295G>T (p.Val765=)
c.2549G>T
c.1791G>T (p.Val597=)
c.2172G>T (p.Val724=)
c.1761G>T (p.Val587=)
c.1914G>T (p.Val638=)
n.2305G>T
n.2629G>T
n.2272G>T
19g.11123328_11123330delinsGACCA2322777266LDLRc.2553_2555delinsGAC (p.Val851=)
c.*364_*366delinsGAC (n.*364_*366delinsGAC)
c.2175_2177delinsGAC (p.Val725=)
c.2295_2297delinsGAC (p.Val765=)
c.2549_2551delinsGAC
c.1791_1793delinsGAC (p.Val597=)
c.2172_2174delinsGAC (p.Val724=)
c.1761_1763delinsGAC (p.Val587=)
c.1914_1916delinsGAC (p.Val638=)
n.2305_2307delinsGAC
n.2629_2631delinsGAC
n.2272_2274delinsGAC
19g.11123329delCA2695228319LDLRc.2554del (p.Thr852GlnfsTer22)
c.*365del (n.*365del)
c.2176del (p.Thr726GlnfsTer22)
c.2296del (p.Thr766GlnfsTer22)
c.2550del
c.1792del (p.Thr598GlnfsTer22)
c.2173del (p.Thr725GlnfsTer22)
c.1762del (p.Thr588GlnfsTer22)
c.2296del (p.Thr766GlnfsTer?)
c.1915del (p.Thr639GlnfsTer22)
n.2306del
n.2630del
n.2273del
19g.11123329A=CA2322777267LDLRc.2554A= (p.Thr852=)
c.*365A= (n.*365A=)
c.2176A= (p.Thr726=)
c.2296A= (p.Thr766=)
c.2550A=
c.1792A= (p.Thr598=)
c.2173A= (p.Thr725=)
c.1762A= (p.Thr588=)
c.1915A= (p.Thr639=)
n.2306A=
n.2630A=
n.2273A=
19g.11123329A>CCA404095762LDLRc.2554A>C (p.Thr852Pro)
c.*365A>C (n.*365A>C)
c.2176A>C (p.Thr726Pro)
c.2296A>C (p.Thr766Pro)
c.2550A>C
c.1792A>C (p.Thr598Pro)
c.2173A>C (p.Thr725Pro)
c.1762A>C (p.Thr588Pro)
c.1915A>C (p.Thr639Pro)
n.2306A>C
n.2630A>C
n.2273A>C
19g.11123329A>GCA10585815LDLRc.2554A>G (p.Thr852Ala)
c.*365A>G (n.*365A>G)
c.2176A>G (p.Thr726Ala)
c.2296A>G (p.Thr766Ala)
c.2550A>G
c.1792A>G (p.Thr598Ala)
c.2173A>G (p.Thr725Ala)
c.1762A>G (p.Thr588Ala)
c.1915A>G (p.Thr639Ala)
n.2306A>G
n.2630A>G
n.2273A>G
 ClinVar dbSNP gnomAD v4
19g.11123329A>TCA404095767LDLRc.2554A>T (p.Thr852Ser)
c.*365A>T (n.*365A>T)
c.2176A>T (p.Thr726Ser)
c.2296A>T (p.Thr766Ser)
c.2550A>T
c.1792A>T (p.Thr598Ser)
c.2173A>T (p.Thr725Ser)
c.1762A>T (p.Thr588Ser)
c.1915A>T (p.Thr639Ser)
n.2306A>T
n.2630A>T
n.2273A>T
19g.11123330_11123331delCA10585817LDLRc.2555_2556del (p.Thr852AsnfsTer15)
c.*366_*367del (n.*366_*367del)
c.2177_2178del (p.Thr726AsnfsTer15)
c.2297_2298del (p.Thr766AsnfsTer15)
c.2551_2552del
c.1793_1794del (p.Thr598AsnfsTer15)
c.2174_2175del (p.Thr725AsnfsTer15)
c.1763_1764del (p.Thr588AsnfsTer15)
c.2297_2298del (p.Thr766AsnfsTer24)
c.1916_1917del (p.Thr639AsnfsTer15)
n.2307_2308del
n.2631_2632del
n.2274_2275del
 ClinVar dbSNP
19g.11123330C>ACA404095771LDLRc.2555C>A (p.Thr852Lys)
c.*366C>A (n.*366C>A)
c.2177C>A (p.Thr726Lys)
c.2297C>A (p.Thr766Lys)
c.2551C>A
c.1793C>A (p.Thr598Lys)
c.2174C>A (p.Thr725Lys)
c.1763C>A (p.Thr588Lys)
c.1916C>A (p.Thr639Lys)
n.2307C>A
n.2631C>A
n.2274C>A
19g.11123330C=CA2322777268LDLRc.2555C= (p.Thr852=)
c.*366C= (n.*366C=)
c.2177C= (p.Thr726=)
c.2297C= (p.Thr766=)
c.2551C=
c.1793C= (p.Thr598=)
c.2174C= (p.Thr725=)
c.1763C= (p.Thr588=)
c.1916C= (p.Thr639=)
n.2307C=
n.2631C=
n.2274C=
19g.11123330C>GCA404095768LDLRc.2555C>G (p.Thr852Arg)
c.*366C>G (n.*366C>G)
c.2177C>G (p.Thr726Arg)
c.2297C>G (p.Thr766Arg)
c.2551C>G
c.1793C>G (p.Thr598Arg)
c.2174C>G (p.Thr725Arg)
c.1763C>G (p.Thr588Arg)
c.1916C>G (p.Thr639Arg)
n.2307C>G
n.2631C>G
n.2274C>G
19g.11123330C>TCA10585816LDLRc.2555C>T (p.Thr852Ile)
c.*366C>T (n.*366C>T)
c.2177C>T (p.Thr726Ile)
c.2297C>T (p.Thr766Ile)
c.2551C>T
c.1793C>T (p.Thr598Ile)
c.2174C>T (p.Thr725Ile)
c.1763C>T (p.Thr588Ile)
c.1916C>T (p.Thr639Ile)
n.2307C>T
n.2631C>T
n.2274C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11123330_11123331delinsCACA2322777269LDLRc.2555_2556delinsCA (p.Thr852=)
c.*366_*367delinsCA (n.*366_*367delinsCA)
c.2177_2178delinsCA (p.Thr726=)
c.2297_2298delinsCA (p.Thr766=)
c.2551_2552delinsCA
c.1793_1794delinsCA (p.Thr598=)
c.2174_2175delinsCA (p.Thr725=)
c.1763_1764delinsCA (p.Thr588=)
c.1916_1917delinsCA (p.Thr639=)
n.2307_2308delinsCA
n.2631_2632delinsCA
n.2274_2275delinsCA
19g.11123331A=CA2322777270LDLRc.2556A= (p.Thr852=)
c.*367A= (n.*367A=)
c.2178A= (p.Thr726=)
c.2298A= (p.Thr766=)
c.2552A=
c.1794A= (p.Thr598=)
c.2175A= (p.Thr725=)
c.1764A= (p.Thr588=)
c.1917A= (p.Thr639=)
n.2308A=
n.2632A=
n.2275A=
19g.11123331A>CCA505487121LDLRc.2556A>C (p.Thr852=)
c.*367A>C (n.*367A>C)
c.2178A>C (p.Thr726=)
c.2298A>C (p.Thr766=)
c.2552A>C
c.1794A>C (p.Thr598=)
c.2175A>C (p.Thr725=)
c.1764A>C (p.Thr588=)
c.1917A>C (p.Thr639=)
n.2308A>C
n.2632A>C
n.2275A>C
19g.11123331A>GCA505487122LDLRc.2556A>G (p.Thr852=)
c.*367A>G (n.*367A>G)
c.2178A>G (p.Thr726=)
c.2298A>G (p.Thr766=)
c.2552A>G
c.1794A>G (p.Thr598=)
c.2175A>G (p.Thr725=)
c.1764A>G (p.Thr588=)
c.1917A>G (p.Thr639=)
n.2308A>G
n.2632A>G
n.2275A>G
 ClinVar dbSNP
19g.11123331A>TCA505487123LDLRc.2556A>T (p.Thr852=)
c.*367A>T (n.*367A>T)
c.2178A>T (p.Thr726=)
c.2298A>T (p.Thr766=)
c.2552A>T
c.1794A>T (p.Thr598=)
c.2175A>T (p.Thr725=)
c.1764A>T (p.Thr588=)
c.1917A>T (p.Thr639=)
n.2308A>T
n.2632A>T
n.2275A>T
19g.11123332delCA10585818LDLRc.2557del (p.Met853CysfsTer21)
c.*368del (n.*368del)
c.2179del (p.Met727CysfsTer21)
c.2299del (p.Met767CysfsTer21)
c.2553del
c.1795del (p.Met599CysfsTer21)
c.2176del (p.Met726CysfsTer21)
c.1765del (p.Met589CysfsTer21)
c.2299del (p.Met767CysfsTer?)
c.1918del (p.Met640CysfsTer21)
n.2309del
n.2633del
n.2276del
 ClinVar dbSNP
19g.11123332A=CA2322777271LDLRc.2557A= (p.Met853=)
c.*368A= (n.*368A=)
c.2179A= (p.Met727=)
c.2299A= (p.Met767=)
c.2553A=
c.1795A= (p.Met599=)
c.2176A= (p.Met726=)
c.1765A= (p.Met589=)
c.1918A= (p.Met640=)
n.2309A=
n.2633A=
n.2276A=
19g.11123332A>CCA404095781LDLRc.2557A>C (p.Met853Leu)
c.*368A>C (n.*368A>C)
c.2179A>C (p.Met727Leu)
c.2299A>C (p.Met767Leu)
c.2553A>C
c.1795A>C (p.Met599Leu)
c.2176A>C (p.Met726Leu)
c.1765A>C (p.Met589Leu)
c.1918A>C (p.Met640Leu)
n.2309A>C
n.2633A>C
n.2276A>C
19g.11123332A>GCA305305292LDLRc.2557A>G (p.Met853Val)
c.*368A>G (n.*368A>G)
c.2179A>G (p.Met727Val)
c.2299A>G (p.Met767Val)
c.2553A>G
c.1795A>G (p.Met599Val)
c.2176A>G (p.Met726Val)
c.1765A>G (p.Met589Val)
c.1918A>G (p.Met640Val)
n.2309A>G
n.2633A>G
n.2276A>G
 dbSNP gnomAD v2 gnomAD v4
19g.11123332A>TCA404095779LDLRc.2557A>T (p.Met853Leu)
c.*368A>T (n.*368A>T)
c.2179A>T (p.Met727Leu)
c.2299A>T (p.Met767Leu)
c.2553A>T
c.1795A>T (p.Met599Leu)
c.2176A>T (p.Met726Leu)
c.1765A>T (p.Met589Leu)
c.1918A>T (p.Met640Leu)
n.2309A>T
n.2633A>T
n.2276A>T
19g.11123333T>ACA404095799LDLRc.2558T>A (p.Met853Lys)
c.*369T>A (n.*369T>A)
c.2180T>A (p.Met727Lys)
c.2300T>A (p.Met767Lys)
c.2554T>A
c.1796T>A (p.Met599Lys)
c.2177T>A (p.Met726Lys)
c.1766T>A (p.Met589Lys)
c.1919T>A (p.Met640Lys)
n.2310T>A
n.2634T>A
n.2277T>A
19g.11123333T>CCA404095801LDLRc.2558T>C (p.Met853Thr)
c.*369T>C (n.*369T>C)
c.2180T>C (p.Met727Thr)
c.2300T>C (p.Met767Thr)
c.2554T>C
c.1796T>C (p.Met599Thr)
c.2177T>C (p.Met726Thr)
c.1766T>C (p.Met589Thr)
c.1919T>C (p.Met640Thr)
n.2310T>C
n.2634T>C
n.2277T>C
 dbSNP gnomAD v2 gnomAD v4
19g.11123333T>GCA404095804LDLRc.2558T>G (p.Met853Arg)
c.*369T>G (n.*369T>G)
c.2180T>G (p.Met727Arg)
c.2300T>G (p.Met767Arg)
c.2554T>G
c.1796T>G (p.Met599Arg)
c.2177T>G (p.Met726Arg)
c.1766T>G (p.Met589Arg)
c.1919T>G (p.Met640Arg)
n.2310T>G
n.2634T>G
n.2277T>G
19g.11123333T=CA2322777272LDLRc.2558T= (p.Met853=)
c.*369T= (n.*369T=)
c.2180T= (p.Met727=)
c.2300T= (p.Met767=)
c.2554T=
c.1796T= (p.Met599=)
c.2177T= (p.Met726=)
c.1766T= (p.Met589=)
c.1919T= (p.Met640=)
n.2310T=
n.2634T=
n.2277T=
19g.11123334G>ACA039399LDLRc.2559G>A (p.Met853Ile)
c.*370G>A (n.*370G>A)
c.2181G>A (p.Met727Ile)
c.2301G>A (p.Met767Ile)
c.2555G>A
c.1797G>A (p.Met599Ile)
c.2178G>A (p.Met726Ile)
c.1767G>A (p.Met589Ile)
c.1920G>A (p.Met640Ile)
n.2311G>A
n.2635G>A
n.2278G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11123334G>CCA404095809LDLRc.2559G>C (p.Met853Ile)
c.*370G>C (n.*370G>C)
c.2181G>C (p.Met727Ile)
c.2301G>C (p.Met767Ile)
c.2555G>C
c.1797G>C (p.Met599Ile)
c.2178G>C (p.Met726Ile)
c.1767G>C (p.Met589Ile)
c.1920G>C (p.Met640Ile)
n.2311G>C
n.2635G>C
n.2278G>C
19g.11123334G=CA2322777273LDLRc.2559G= (p.Met853=)
c.*370G= (n.*370G=)
c.2181G= (p.Met727=)
c.2301G= (p.Met767=)
c.2555G=
c.1797G= (p.Met599=)
c.2178G= (p.Met726=)
c.1767G= (p.Met589=)
c.1920G= (p.Met640=)
n.2311G=
n.2635G=
n.2278G=
19g.11123334G>TCA404095813LDLRc.2559G>T (p.Met853Ile)
c.*370G>T (n.*370G>T)
c.2181G>T (p.Met727Ile)
c.2301G>T (p.Met767Ile)
c.2555G>T
c.1797G>T (p.Met599Ile)
c.2178G>T (p.Met726Ile)
c.1767G>T (p.Met589Ile)
c.1920G>T (p.Met640Ile)
n.2311G>T
n.2635G>T
n.2278G>T
19g.11123335T>ACA404095815LDLRc.2560T>A (p.Ser854Thr)
c.*371T>A (n.*371T>A)
c.2182T>A (p.Ser728Thr)
c.2302T>A (p.Ser768Thr)
c.2556T>A
c.1798T>A (p.Ser600Thr)
c.2179T>A (p.Ser727Thr)
c.1768T>A (p.Ser590Thr)
c.1921T>A (p.Ser641Thr)
n.2312T>A
n.2636T>A
n.2279T>A
 gnomAD v4
19g.11123335T>CCA404095817LDLRc.2560T>C (p.Ser854Pro)
c.*371T>C (n.*371T>C)
c.2182T>C (p.Ser728Pro)
c.2302T>C (p.Ser768Pro)
c.2556T>C
c.1798T>C (p.Ser600Pro)
c.2179T>C (p.Ser727Pro)
c.1768T>C (p.Ser590Pro)
c.1921T>C (p.Ser641Pro)
n.2312T>C
n.2636T>C
n.2279T>C
19g.11123335T>GCA404095819LDLRc.2560T>G (p.Ser854Ala)
c.*371T>G (n.*371T>G)
c.2182T>G (p.Ser728Ala)
c.2302T>G (p.Ser768Ala)
c.2556T>G
c.1798T>G (p.Ser600Ala)
c.2179T>G (p.Ser727Ala)
c.1768T>G (p.Ser590Ala)
c.1921T>G (p.Ser641Ala)
n.2312T>G
n.2636T>G
n.2279T>G
19g.11123336C>ACA404095826LDLRc.2561C>A (p.Ser854Tyr)
c.*372C>A (n.*372C>A)
c.2183C>A (p.Ser728Tyr)
c.2303C>A (p.Ser768Tyr)
c.2557C>A
c.1799C>A (p.Ser600Tyr)
c.2180C>A (p.Ser727Tyr)
c.1769C>A (p.Ser590Tyr)
c.1922C>A (p.Ser641Tyr)
n.2313C>A
n.2637C>A
n.2280C>A

Number of alleles fetched