| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11122220_11129195del | CA2573320454 | LDLR | c.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 | |
| 19 | g.11123595_11132129del | CA250473 | LDLR | c.2569+251_*813del c.*380+251_*1465del c.2191+251_*813del c.2311+251_*813del c.2565+251_3650del c.2188+251_*813del c.1807+251_*813del c.1777+251_*813del c.1930+251_*813del n.2645+251_3730del n.2288+251_3373del | ClinVar |
| 19 | g.11125285_11132532dup | CA10585823 | LDLR | c.2569+1941_*1216dup c.*380+1941_*1868dup c.2191+1941_*1216dup c.2311+1941_*1216dup c.2565+1941_4053dup c.2188+1941_*1216dup c.1807+1941_*1216dup c.1777+1941_*1216dup c.1930+1941_*1216dup n.2645+1941_4133dup n.2288+1941_3776dup | |
| 19 | g.11127453_11132598del | CA2573050624 | LDLR | c.2570-555_*1282del c.*381-555_*1934del c.2192-555_*1282del c.2312-555_*1282del c.2566-555_4119del c.2189-555_*1282del c.1808-555_*1282del c.1778-555_*1282del c.2312-2060_*1282del c.1931-555_*1282del n.2646-555_4199del n.2289-555_3842del | |
| 19 | g.11128007_11133830del | CA658824396 | LDLR | c.2312-1_*2514del c.2189-1_*2514del c.1808-1_*2514del c.1778-1_*2514del | ClinVar |
| 19 | g.11128008_11131316del | CA2695202621 | LDLR | c.2570_2841del c.*381_*652del c.2192_2463del c.2312_2583del c.2566_2837del c.1808_2079del c.2189_2460del c.1778_2049del c.2312_2645del c.2312_2577del n.108+354_109-1779del c.2312-1505_2505del c.1931_2202del n.2646_2917del n.2289_2560del | |
| 19 | g.11128063_11128070delinsTCTGTCCA | CA2322779549 | LDLR | c.2625_2632delinsTCTGTCCA (p.Ala875=) c.*436_*443delinsTCTGTCCA (n.*436_*443delinsTCTGTCCA) c.2247_2254delinsTCTGTCCA (p.Ala749=) c.2367_2374delinsTCTGTCCA (p.Ala789=) c.2621_2628delinsTCTGTCCA c.1863_1870delinsTCTGTCCA (p.Ala621=) c.2244_2251delinsTCTGTCCA (p.Ala748=) c.1833_1840delinsTCTGTCCA (p.Ala611=) n.108+409_108+416delinsTCTGTCCA c.2312-1450_2312-1443delinsTCTGTCCA (n.2312-1450_2312-1443delinsTCTGTCCA) c.1986_1993delinsTCTGTCCA (p.Ala662=) n.2377_2384delinsTCTGTCCA n.2701_2708delinsTCTGTCCA n.2344_2351delinsTCTGTCCA | |
| 19 | g.11128064_11128070del | CA1139666247 | LDLR | c.2626_2632del (p.Ile878SerfsTer?) c.*437_*443del (n.*437_*443del) c.2248_2254del (p.Ile752SerfsTer?) c.2368_2374del (p.Ile792SerfsTer?) c.2622_2628del c.1864_1870del (p.Ile624SerfsTer?) c.2245_2251del (p.Ile751SerfsTer?) c.1834_1840del (p.Ile614SerfsTer?) n.108+410_108+416del c.2312-1449_2312-1443del (n.2312-1449_2312-1443del) c.1987_1993del (p.Ile665SerfsTer?) n.2378_2384del n.2702_2708del n.2345_2351del | ClinVar dbSNP |
| 19 | g.11128065_11128105delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC | CA2322779551 | LDLR | c.2627_2647+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC c.*438_*458+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC c.2249_2269+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC c.2369_2389+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC c.2623_2643+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC c.1865_1885+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC c.2246_2266+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC c.1835_1855+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC n.108+411_108+451delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC c.2312-1448_2312-1408delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC (n.2312-1448_2312-1408delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC) c.1988_2008+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC n.2379_2399+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC n.2703_2723+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC n.2346_2366+20delinsTGTCCATTGTCCTCCCCATCGGTAAGCGCGGGCCGGTCCCC | |
| 19 | g.11128066G>A | CA505487506 | LDLR | c.2628G>A (p.Leu876=) c.*439G>A (n.*439G>A) c.2250G>A (p.Leu750=) c.2370G>A (p.Leu790=) c.2624G>A c.1866G>A (p.Leu622=) c.2247G>A (p.Leu749=) c.1836G>A (p.Leu612=) n.108+412G>A c.2312-1447G>A (n.2312-1447G>A) c.1989G>A (p.Leu663=) n.2380G>A n.2704G>A n.2347G>A | |
| 19 | g.11128066G>C | CA505487507 | LDLR | c.2628G>C (p.Leu876=) c.*439G>C (n.*439G>C) c.2250G>C (p.Leu750=) c.2370G>C (p.Leu790=) c.2624G>C c.1866G>C (p.Leu622=) c.2247G>C (p.Leu749=) c.1836G>C (p.Leu612=) n.108+412G>C c.2312-1447G>C (n.2312-1447G>C) c.1989G>C (p.Leu663=) n.2380G>C n.2704G>C n.2347G>C | ClinVar |
| 19 | g.11128066G>T | CA505487508 | LDLR | c.2628G>T (p.Leu876=) c.*439G>T (n.*439G>T) c.2250G>T (p.Leu750=) c.2370G>T (p.Leu790=) c.2624G>T c.1866G>T (p.Leu622=) c.2247G>T (p.Leu749=) c.1836G>T (p.Leu612=) n.108+412G>T c.2312-1447G>T (n.2312-1447G>T) c.1989G>T (p.Leu663=) n.2380G>T n.2704G>T n.2347G>T | |
| 19 | g.11128066_11128105del | CA915952552 | LDLR | c.2628_2647+20del c.*439_*458+20del c.2250_2269+20del c.2370_2389+20del c.2624_2643+20del c.1866_1885+20del c.2247_2266+20del c.1836_1855+20del n.108+412_108+451del c.2312-1447_2312-1408del (n.2312-1447_2312-1408del) c.1989_2008+20del n.2380_2399+20del n.2704_2723+20del n.2347_2366+20del | ClinVar dbSNP |
| 19 | g.11128067T>A | CA404096862 | LDLR | c.2629T>A (p.Ser877Thr) c.*440T>A (n.*440T>A) c.2251T>A (p.Ser751Thr) c.2371T>A (p.Ser791Thr) c.2625T>A c.1867T>A (p.Ser623Thr) c.2248T>A (p.Ser750Thr) c.1837T>A (p.Ser613Thr) n.108+413T>A c.2312-1446T>A (n.2312-1446T>A) c.1990T>A (p.Ser664Thr) n.2381T>A n.2705T>A n.2348T>A | |
| 19 | g.11128067T>C | CA404096863 | LDLR | c.2629T>C (p.Ser877Pro) c.*440T>C (n.*440T>C) c.2251T>C (p.Ser751Pro) c.2371T>C (p.Ser791Pro) c.2625T>C c.1867T>C (p.Ser623Pro) c.2248T>C (p.Ser750Pro) c.1837T>C (p.Ser613Pro) n.108+413T>C c.2312-1446T>C (n.2312-1446T>C) c.1990T>C (p.Ser664Pro) n.2381T>C n.2705T>C n.2348T>C | |
| 19 | g.11128067T>G | CA404096865 | LDLR | c.2629T>G (p.Ser877Ala) c.*440T>G (n.*440T>G) c.2251T>G (p.Ser751Ala) c.2371T>G (p.Ser791Ala) c.2625T>G c.1867T>G (p.Ser623Ala) c.2248T>G (p.Ser750Ala) c.1837T>G (p.Ser613Ala) n.108+413T>G c.2312-1446T>G (n.2312-1446T>G) c.1990T>G (p.Ser664Ala) n.2381T>G n.2705T>G n.2348T>G | |
| 19 | g.11128068C>A | CA404096868 | LDLR | c.2630C>A (p.Ser877Tyr) c.*441C>A (n.*441C>A) c.2252C>A (p.Ser751Tyr) c.2372C>A (p.Ser791Tyr) c.2626C>A c.1868C>A (p.Ser623Tyr) c.2249C>A (p.Ser750Tyr) c.1838C>A (p.Ser613Tyr) n.108+414C>A c.2312-1445C>A (n.2312-1445C>A) c.1991C>A (p.Ser664Tyr) n.2382C>A n.2706C>A n.2349C>A | |
| 19 | g.11128068C= | CA2322779552 | LDLR | c.2630C= (p.Ser877=) c.*441C= (n.*441C=) c.2252C= (p.Ser751=) c.2372C= (p.Ser791=) c.2626C= c.1868C= (p.Ser623=) c.2249C= (p.Ser750=) c.1838C= (p.Ser613=) n.108+414C= c.2312-1445C= (n.2312-1445C=) c.1991C= (p.Ser664=) n.2382C= n.2706C= n.2349C= | |
| 19 | g.11128068C>G | CA404096869 | LDLR | c.2630C>G (p.Ser877Cys) c.*441C>G (n.*441C>G) c.2252C>G (p.Ser751Cys) c.2372C>G (p.Ser791Cys) c.2626C>G c.1868C>G (p.Ser623Cys) c.2249C>G (p.Ser750Cys) c.1838C>G (p.Ser613Cys) n.108+414C>G c.2312-1445C>G (n.2312-1445C>G) c.1991C>G (p.Ser664Cys) n.2382C>G n.2706C>G n.2349C>G | |
| 19 | g.11128068C>T | CA404096871 | LDLR | c.2630C>T (p.Ser877Phe) c.*441C>T (n.*441C>T) c.2252C>T (p.Ser751Phe) c.2372C>T (p.Ser791Phe) c.2626C>T c.1868C>T (p.Ser623Phe) c.2249C>T (p.Ser750Phe) c.1838C>T (p.Ser613Phe) n.108+414C>T c.2312-1445C>T (n.2312-1445C>T) c.1991C>T (p.Ser664Phe) n.2382C>T n.2706C>T n.2349C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11128069C>A | CA505487514 | LDLR | c.2631C>A (p.Ser877=) c.*442C>A (n.*442C>A) c.2253C>A (p.Ser751=) c.2373C>A (p.Ser791=) c.2627C>A c.1869C>A (p.Ser623=) c.2250C>A (p.Ser750=) c.1839C>A (p.Ser613=) n.108+415C>A c.2312-1444C>A (n.2312-1444C>A) c.1992C>A (p.Ser664=) n.2383C>A n.2707C>A n.2350C>A | |
| 19 | g.11128069C= | CA2322779553 | LDLR | c.2631C= (p.Ser877=) c.*442C= (n.*442C=) c.2253C= (p.Ser751=) c.2373C= (p.Ser791=) c.2627C= c.1869C= (p.Ser623=) c.2250C= (p.Ser750=) c.1839C= (p.Ser613=) n.108+415C= c.2312-1444C= (n.2312-1444C=) c.1992C= (p.Ser664=) n.2383C= n.2707C= n.2350C= | |
| 19 | g.11128069C>G | CA505487516 | LDLR | c.2631C>G (p.Ser877=) c.*442C>G (n.*442C>G) c.2253C>G (p.Ser751=) c.2373C>G (p.Ser791=) c.2627C>G c.1869C>G (p.Ser623=) c.2250C>G (p.Ser750=) c.1839C>G (p.Ser613=) n.108+415C>G c.2312-1444C>G (n.2312-1444C>G) c.1992C>G (p.Ser664=) n.2383C>G n.2707C>G n.2350C>G | gnomAD v4 |
| 19 | g.11128069C>T | CA039991 | LDLR | c.2631C>T (p.Ser877=) c.*442C>T (n.*442C>T) c.2253C>T (p.Ser751=) c.2373C>T (p.Ser791=) c.2627C>T c.1869C>T (p.Ser623=) c.2250C>T (p.Ser750=) c.1839C>T (p.Ser613=) n.108+415C>T c.2312-1444C>T (n.2312-1444C>T) c.1992C>T (p.Ser664=) n.2383C>T n.2707C>T n.2350C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11128070del | CA2582476259 | LDLR | c.2632del (p.Ile878LeufsTer?) c.*443del (n.*443del) c.2254del (p.Ile752LeufsTer?) c.2374del (p.Ile792LeufsTer?) c.2628del c.1870del (p.Ile624LeufsTer?) c.2251del (p.Ile751LeufsTer?) c.1840del (p.Ile614LeufsTer?) n.108+416del c.2312-1443del (n.2312-1443del) c.1993del (p.Ile665LeufsTer?) n.2384del n.2708del n.2351del | gnomAD v4 |
| 19 | g.11128070A= | CA2322779554 | LDLR | c.2632A= (p.Ile878=) c.*443A= (n.*443A=) c.2254A= (p.Ile752=) c.2374A= (p.Ile792=) c.2628A= c.1870A= (p.Ile624=) c.2251A= (p.Ile751=) c.1840A= (p.Ile614=) n.108+416A= c.2312-1443A= (n.2312-1443A=) c.1993A= (p.Ile665=) n.2384A= n.2708A= n.2351A= | |
| 19 | g.11128070A>C | CA404096874 | LDLR | c.2632A>C (p.Ile878Leu) c.*443A>C (n.*443A>C) c.2254A>C (p.Ile752Leu) c.2374A>C (p.Ile792Leu) c.2628A>C c.1870A>C (p.Ile624Leu) c.2251A>C (p.Ile751Leu) c.1840A>C (p.Ile614Leu) n.108+416A>C c.2312-1443A>C (n.2312-1443A>C) c.1993A>C (p.Ile665Leu) n.2384A>C n.2708A>C n.2351A>C | |
| 19 | g.11128070A>G | CA040004 | LDLR | c.2632A>G (p.Ile878Val) c.*443A>G (n.*443A>G) c.2254A>G (p.Ile752Val) c.2374A>G (p.Ile792Val) c.2628A>G c.1870A>G (p.Ile624Val) c.2251A>G (p.Ile751Val) c.1840A>G (p.Ile614Val) n.108+416A>G c.2312-1443A>G (n.2312-1443A>G) c.1993A>G (p.Ile665Val) n.2384A>G n.2708A>G n.2351A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11128070A>T | CA10585833 | LDLR | c.2632A>T (p.Ile878Phe) c.*443A>T (n.*443A>T) c.2254A>T (p.Ile752Phe) c.2374A>T (p.Ile792Phe) c.2628A>T c.1870A>T (p.Ile624Phe) c.2251A>T (p.Ile751Phe) c.1840A>T (p.Ile614Phe) n.108+416A>T c.2312-1443A>T (n.2312-1443A>T) c.1993A>T (p.Ile665Phe) n.2384A>T n.2708A>T n.2351A>T | ClinVar dbSNP |
| 19 | g.11128070_11128071delinsAT | CA2322779555 | LDLR | c.2632_2633delinsAT (p.Ile878=) c.*443_*444delinsAT (n.*443_*444delinsAT) c.2254_2255delinsAT (p.Ile752=) c.2374_2375delinsAT (p.Ile792=) c.2628_2629delinsAT c.1870_1871delinsAT (p.Ile624=) c.2251_2252delinsAT (p.Ile751=) c.1840_1841delinsAT (p.Ile614=) n.108+416_108+417delinsAT c.2312-1443_2312-1442delinsAT (n.2312-1443_2312-1442delinsAT) c.1993_1994delinsAT (p.Ile665=) n.2384_2385delinsAT n.2708_2709delinsAT n.2351_2352delinsAT | |
| 19 | g.11128071T>A | CA404096878 | LDLR | c.2633T>A (p.Ile878Asn) c.*444T>A (n.*444T>A) c.2255T>A (p.Ile752Asn) c.2375T>A (p.Ile792Asn) c.2629T>A c.1871T>A (p.Ile624Asn) c.2252T>A (p.Ile751Asn) c.1841T>A (p.Ile614Asn) n.108+417T>A c.2312-1442T>A (n.2312-1442T>A) c.1994T>A (p.Ile665Asn) n.2385T>A n.2709T>A n.2352T>A | |
| 19 | g.11128071T>C | CA040016 | LDLR | c.2633T>C (p.Ile878Thr) c.*444T>C (n.*444T>C) c.2255T>C (p.Ile752Thr) c.2375T>C (p.Ile792Thr) c.2629T>C c.1871T>C (p.Ile624Thr) c.2252T>C (p.Ile751Thr) c.1841T>C (p.Ile614Thr) n.108+417T>C c.2312-1442T>C (n.2312-1442T>C) c.1994T>C (p.Ile665Thr) n.2385T>C n.2709T>C n.2352T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11128071T>G | CA404096880 | LDLR | c.2633T>G (p.Ile878Ser) c.*444T>G (n.*444T>G) c.2255T>G (p.Ile752Ser) c.2375T>G (p.Ile792Ser) c.2629T>G c.1871T>G (p.Ile624Ser) c.2252T>G (p.Ile751Ser) c.1841T>G (p.Ile614Ser) n.108+417T>G c.2312-1442T>G (n.2312-1442T>G) c.1994T>G (p.Ile665Ser) n.2385T>G n.2709T>G n.2352T>G | |
| 19 | g.11128071T= | CA2322779556 | LDLR | c.2633T= (p.Ile878=) c.*444T= (n.*444T=) c.2255T= (p.Ile752=) c.2375T= (p.Ile792=) c.2629T= c.1871T= (p.Ile624=) c.2252T= (p.Ile751=) c.1841T= (p.Ile614=) n.108+417T= c.2312-1442T= (n.2312-1442T=) c.1994T= (p.Ile665=) n.2385T= n.2709T= n.2352T= | |
| 19 | g.11128072del | CA645372643 | LDLR | c.2634del (p.Ile878MetfsTer?) c.*445del (n.*445del) c.2256del (p.Ile752MetfsTer?) c.2376del (p.Ile792MetfsTer?) c.2630del c.1872del (p.Ile624MetfsTer?) c.2253del (p.Ile751MetfsTer?) c.1842del (p.Ile614MetfsTer?) n.108+418del c.2312-1441del (n.2312-1441del) c.1995del (p.Ile665MetfsTer?) n.2386del n.2710del n.2353del | ClinVar dbSNP |
| 19 | g.11128072T>A | CA505487527 | LDLR | c.2634T>A (p.Ile878=) c.*445T>A (n.*445T>A) c.2256T>A (p.Ile752=) c.2376T>A (p.Ile792=) c.2630T>A c.1872T>A (p.Ile624=) c.2253T>A (p.Ile751=) c.1842T>A (p.Ile614=) n.108+418T>A c.2312-1441T>A (n.2312-1441T>A) c.1995T>A (p.Ile665=) n.2386T>A n.2710T>A n.2353T>A | ClinVar dbSNP |
| 19 | g.11128072T>C | CA505487524 | LDLR | c.2634T>C (p.Ile878=) c.*445T>C (n.*445T>C) c.2256T>C (p.Ile752=) c.2376T>C (p.Ile792=) c.2630T>C c.1872T>C (p.Ile624=) c.2253T>C (p.Ile751=) c.1842T>C (p.Ile614=) n.108+418T>C c.2312-1441T>C (n.2312-1441T>C) c.1995T>C (p.Ile665=) n.2386T>C n.2710T>C n.2353T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11128072T>G | CA404096882 | LDLR | c.2634T>G (p.Ile878Met) c.*445T>G (n.*445T>G) c.2256T>G (p.Ile752Met) c.2376T>G (p.Ile792Met) c.2630T>G c.1872T>G (p.Ile624Met) c.2253T>G (p.Ile751Met) c.1842T>G (p.Ile614Met) n.108+418T>G c.2312-1441T>G (n.2312-1441T>G) c.1995T>G (p.Ile665Met) n.2386T>G n.2710T>G n.2353T>G | |
| 19 | g.11128072T= | CA2322779557 | LDLR | c.2634T= (p.Ile878=) c.*445T= (n.*445T=) c.2256T= (p.Ile752=) c.2376T= (p.Ile792=) c.2630T= c.1872T= (p.Ile624=) c.2253T= (p.Ile751=) c.1842T= (p.Ile614=) n.108+418T= c.2312-1441T= (n.2312-1441T=) c.1995T= (p.Ile665=) n.2386T= n.2710T= n.2353T= | |
| 19 | g.11128072_11128088del | CA2573050626 | LDLR | c.2634_2647+3del c.*445_*458+3del c.2256_2269+3del c.2376_2389+3del c.2630_2643+3del c.1872_1885+3del c.2253_2266+3del c.1842_1855+3del n.108+418_108+434del c.2312-1441_2312-1425del (n.2312-1441_2312-1425del) c.1995_2008+3del n.2386_2399+3del n.2710_2723+3del n.2353_2366+3del | |
| 19 | g.11128073G>A | CA404096885 | LDLR | c.2635G>A (p.Val879Ile) c.*446G>A (n.*446G>A) c.2257G>A (p.Val753Ile) c.2377G>A (p.Val793Ile) c.2631G>A c.1873G>A (p.Val625Ile) c.2254G>A (p.Val752Ile) c.1843G>A (p.Val615Ile) n.108+419G>A c.2312-1440G>A (n.2312-1440G>A) c.1996G>A (p.Val666Ile) n.2387G>A n.2711G>A n.2354G>A | dbSNP |
| 19 | g.11128073G>C | CA404096883 | LDLR | c.2635G>C (p.Val879Leu) c.*446G>C (n.*446G>C) c.2257G>C (p.Val753Leu) c.2377G>C (p.Val793Leu) c.2631G>C c.1873G>C (p.Val625Leu) c.2254G>C (p.Val752Leu) c.1843G>C (p.Val615Leu) n.108+419G>C c.2312-1440G>C (n.2312-1440G>C) c.1996G>C (p.Val666Leu) n.2387G>C n.2711G>C n.2354G>C | |
| 19 | g.11128073G>T | CA404096887 | LDLR | c.2635G>T (p.Val879Phe) c.*446G>T (n.*446G>T) c.2257G>T (p.Val753Phe) c.2377G>T (p.Val793Phe) c.2631G>T c.1873G>T (p.Val625Phe) c.2254G>T (p.Val752Phe) c.1843G>T (p.Val615Phe) n.108+419G>T c.2312-1440G>T (n.2312-1440G>T) c.1996G>T (p.Val666Phe) n.2387G>T n.2711G>T n.2354G>T | gnomAD v4 |
| 19 | g.11128074T>A | CA404096888 | LDLR | c.2636T>A (p.Val879Asp) c.*447T>A (n.*447T>A) c.2258T>A (p.Val753Asp) c.2378T>A (p.Val793Asp) c.2632T>A c.1874T>A (p.Val625Asp) c.2255T>A (p.Val752Asp) c.1844T>A (p.Val615Asp) n.108+420T>A c.2312-1439T>A (n.2312-1439T>A) c.1997T>A (p.Val666Asp) n.2388T>A n.2712T>A n.2355T>A | |
| 19 | g.11128074T>C | CA404096889 | LDLR | c.2636T>C (p.Val879Ala) c.*447T>C (n.*447T>C) c.2258T>C (p.Val753Ala) c.2378T>C (p.Val793Ala) c.2632T>C c.1874T>C (p.Val625Ala) c.2255T>C (p.Val752Ala) c.1844T>C (p.Val615Ala) n.108+420T>C c.2312-1439T>C (n.2312-1439T>C) c.1997T>C (p.Val666Ala) n.2388T>C n.2712T>C n.2355T>C | COSMIC |
| 19 | g.11128074T>G | CA404096891 | LDLR | c.2636T>G (p.Val879Gly) c.*447T>G (n.*447T>G) c.2258T>G (p.Val753Gly) c.2378T>G (p.Val793Gly) c.2632T>G c.1874T>G (p.Val625Gly) c.2255T>G (p.Val752Gly) c.1844T>G (p.Val615Gly) n.108+420T>G c.2312-1439T>G (n.2312-1439T>G) c.1997T>G (p.Val666Gly) n.2388T>G n.2712T>G n.2355T>G | |
| 19 | g.11128075C>A | CA505487535 | LDLR | c.2637C>A (p.Val879=) c.*448C>A (n.*448C>A) c.2259C>A (p.Val753=) c.2379C>A (p.Val793=) c.2633C>A c.1875C>A (p.Val625=) c.2256C>A (p.Val752=) c.1845C>A (p.Val615=) n.108+421C>A c.2312-1438C>A (n.2312-1438C>A) c.1998C>A (p.Val666=) n.2389C>A n.2713C>A n.2356C>A | gnomAD v4 |
| 19 | g.11128075C= | CA2322779558 | LDLR | c.2637C= (p.Val879=) c.*448C= (n.*448C=) c.2259C= (p.Val753=) c.2379C= (p.Val793=) c.2633C= c.1875C= (p.Val625=) c.2256C= (p.Val752=) c.1845C= (p.Val615=) n.108+421C= c.2312-1438C= (n.2312-1438C=) c.1998C= (p.Val666=) n.2389C= n.2713C= n.2356C= | |
| 19 | g.11128075C>G | CA505487537 | LDLR | c.2637C>G (p.Val879=) c.*448C>G (n.*448C>G) c.2259C>G (p.Val753=) c.2379C>G (p.Val793=) c.2633C>G c.1875C>G (p.Val625=) c.2256C>G (p.Val752=) c.1845C>G (p.Val615=) n.108+421C>G c.2312-1438C>G (n.2312-1438C>G) c.1998C>G (p.Val666=) n.2389C>G n.2713C>G n.2356C>G | dbSNP gnomAD v4 |
| 19 | g.11128075C>T | CA505487534 | LDLR | c.2637C>T (p.Val879=) c.*448C>T (n.*448C>T) c.2259C>T (p.Val753=) c.2379C>T (p.Val793=) c.2633C>T c.1875C>T (p.Val625=) c.2256C>T (p.Val752=) c.1845C>T (p.Val615=) n.108+421C>T c.2312-1438C>T (n.2312-1438C>T) c.1998C>T (p.Val666=) n.2389C>T n.2713C>T n.2356C>T | ClinVar dbSNP |