Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11123595_11132129delCA250473LDLRc.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
19g.11125285_11132532dupCA10585823LDLRc.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
19g.11127453_11132598delCA2573050624LDLRc.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
19g.11128007_11133830delCA658824396LDLRc.2312-1_*2514del
c.2189-1_*2514del
c.1808-1_*2514del
c.1778-1_*2514del
 ClinVar
19g.11128008_11131316delCA2695202621LDLRc.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
19g.11129512_11133830delCA658824397LDLRc.2390-1_*2514del
c.2267-1_*2514del
c.1886-1_*2514del
c.1856-1_*2514del
 ClinVar
19g.11129516_11129532delCA645373240LDLRc.2651_2667del (p.Leu884ProfsTer13)
c.*462_*478del (n.*462_*478del)
c.2273_2289del (p.Leu758ProfsTer13)
c.2393_2409del (p.Leu798ProfsTer13)
c.2647_2663del
c.1889_1905del (p.Leu630ProfsTer13)
c.2270_2286del (p.Leu757ProfsTer13)
c.1859_1875del (p.Leu620ProfsTer13)
c.2455_2471del (p.Ser819LeufsTer?)
n.108+1862_108+1878del
c.2315_2331del (p.Leu772ProfsTer13)
c.2012_2028del (p.Leu671ProfsTer13)
n.2403_2419del
n.2727_2743del
n.2370_2386del
 ClinVar dbSNP
19g.11129520_11129534delCA1139654948LDLRc.2655_2669del (p.Val886_Leu890del)
c.*466_*480del (n.*466_*480del)
c.2277_2291del (p.Val760_Leu764del)
c.2397_2411del (p.Val800_Leu804del)
c.2651_2665del
c.1893_1907del (p.Val632_Leu636del)
c.2274_2288del (p.Val759_Leu763del)
c.1863_1877del (p.Val622_Leu626del)
c.2459_2473del (p.Ser820_Ala824del)
n.108+1866_108+1880del
c.2319_2333del (p.Val774_Leu778del)
c.2016_2030del (p.Val673_Leu677del)
n.2407_2421del
n.2731_2745del
n.2374_2388del
19g.11129519_11129535delinsTCGTCTTCCTTTGCCTGCA2322780247LDLRc.2654_2670delinsTCGTCTTCCTTTGCCTG (p.Leu885=)
c.*465_*481delinsTCGTCTTCCTTTGCCTG (n.*465_*481delinsTCGTCTTCCTTTGCCTG)
c.2276_2292delinsTCGTCTTCCTTTGCCTG (p.Leu759=)
c.2396_2412delinsTCGTCTTCCTTTGCCTG (p.Leu799=)
c.2650_2666delinsTCGTCTTCCTTTGCCTG
c.1892_1908delinsTCGTCTTCCTTTGCCTG (p.Leu631=)
c.2273_2289delinsTCGTCTTCCTTTGCCTG (p.Leu758=)
c.1862_1878delinsTCGTCTTCCTTTGCCTG (p.Leu621=)
c.2458_2474delinsTCGTCTTCCTTTGCCTG (p.Ser820=)
n.108+1865_108+1881delinsTCGTCTTCCTTTGCCTG
c.2318_2334delinsTCGTCTTCCTTTGCCTG (p.Leu773=)
c.2015_2031delinsTCGTCTTCCTTTGCCTG (p.Leu672=)
n.2406_2422delinsTCGTCTTCCTTTGCCTG
n.2730_2746delinsTCGTCTTCCTTTGCCTG
n.2373_2389delinsTCGTCTTCCTTTGCCTG
19g.11129520_11129535delCA10585851LDLRc.2655_2670del (p.Val886GlyfsTer?)
c.*466_*481del (n.*466_*481del)
c.2277_2292del (p.Val760GlyfsTer?)
c.2397_2412del (p.Val800GlyfsTer?)
c.2651_2666del
c.1893_1908del (p.Val632GlyfsTer?)
c.2274_2289del (p.Val759GlyfsTer?)
c.1863_1878del (p.Val622GlyfsTer?)
c.2459_2474del (p.Ser820TrpfsTer12)
n.108+1866_108+1881del
c.2319_2334del (p.Val774GlyfsTer?)
c.2016_2031del (p.Val673GlyfsTer?)
n.2407_2422del
n.2731_2746del
n.2374_2389del
 ClinVar dbSNP
19g.11129520_11129538delinsCGTCTTCCTTTGCCTGGGGCA2322780249LDLRc.2655_2673delinsCGTCTTCCTTTGCCTGGGG (p.Leu885=)
c.*466_*484delinsCGTCTTCCTTTGCCTGGGG (n.*466_*484delinsCGTCTTCCTTTGCCTGGGG)
c.2277_2295delinsCGTCTTCCTTTGCCTGGGG (p.Leu759=)
c.2397_2415delinsCGTCTTCCTTTGCCTGGGG (p.Leu799=)
c.2651_2669delinsCGTCTTCCTTTGCCTGGGG
c.1893_1911delinsCGTCTTCCTTTGCCTGGGG (p.Leu631=)
c.2274_2292delinsCGTCTTCCTTTGCCTGGGG (p.Leu758=)
c.1863_1881delinsCGTCTTCCTTTGCCTGGGG (p.Leu621=)
c.2459_2477delinsCGTCTTCCTTTGCCTGGGG (p.Ser820=)
n.108+1866_108+1884delinsCGTCTTCCTTTGCCTGGGG
c.2319_2337delinsCGTCTTCCTTTGCCTGGGG (p.Leu773=)
c.2016_2034delinsCGTCTTCCTTTGCCTGGGG (p.Leu672=)
n.2407_2425delinsCGTCTTCCTTTGCCTGGGG
n.2731_2749delinsCGTCTTCCTTTGCCTGGGG
n.2374_2392delinsCGTCTTCCTTTGCCTGGGG
19g.11129530_11129547dupCA10585855LDLRc.2665_2682dup (p.Leu894_Leu895insCysLeuGlyValPheLeu)
c.*476_*493dup (n.*476_*493dup)
c.2287_2304dup (p.Leu768_Leu769insCysLeuGlyValPheLeu)
c.2407_2424dup (p.Leu808_Leu809insCysLeuGlyValPheLeu)
c.2661_2678dup
c.1903_1920dup (p.Leu640_Leu641insCysLeuGlyValPheLeu)
c.2284_2301dup (p.Leu767_Leu768insCysLeuGlyValPheLeu)
c.1873_1890dup (p.Leu630_Leu631insCysLeuGlyValPheLeu)
c.2469_2486dup (p.Phe829_Tyr830insAlaTrpGlySerSerPhe)
n.108+1876_108+1893dup
c.2329_2346dup (p.Leu782_Leu783insCysLeuGlyValPheLeu)
c.2026_2043dup (p.Leu681_Leu682insCysLeuGlyValPheLeu)
n.2417_2434dup
n.2741_2758dup
n.2384_2401dup
 ClinVar dbSNP
19g.11129530_11129547delCA645509300LDLRc.2665_2682del (p.Cys889_Leu894del)
c.*476_*493del (n.*476_*493del)
c.2287_2304del (p.Cys763_Leu768del)
c.2407_2424del (p.Cys803_Leu808del)
c.2661_2678del
c.1903_1920del (p.Cys635_Leu640del)
c.2284_2301del (p.Cys762_Leu767del)
c.1873_1890del (p.Cys625_Leu630del)
c.2469_2486del (p.Ala824_Phe829del)
n.108+1876_108+1893del
c.2329_2346del (p.Cys777_Leu782del)
c.2026_2043del (p.Cys676_Leu681del)
n.2417_2434del
n.2741_2758del
n.2384_2401del
 ClinVar dbSNP
19g.11129531delCA2695228330LDLRc.2666del (p.Cys889SerfsTer?)
c.*477del (n.*477del)
c.2288del (p.Cys763SerfsTer?)
c.2408del (p.Cys803SerfsTer?)
c.2662del
c.1904del (p.Cys635SerfsTer?)
c.2285del (p.Cys762SerfsTer?)
c.1874del (p.Cys625SerfsTer?)
c.2470del (p.Ala824ProfsTer13)
n.108+1877del
c.2330del (p.Cys777SerfsTer?)
c.2027del (p.Cys676SerfsTer?)
n.2418del
n.2742del
n.2385del
19g.11129531G>ACA404098408LDLRc.2666G>A (p.Cys889Tyr)
c.*477G>A (n.*477G>A)
c.2288G>A (p.Cys763Tyr)
c.2408G>A (p.Cys803Tyr)
c.2662G>A
c.1904G>A (p.Cys635Tyr)
c.2285G>A (p.Cys762Tyr)
c.1874G>A (p.Cys625Tyr)
c.2470G>A (p.Ala824Thr)
n.108+1877G>A
c.2330G>A (p.Cys777Tyr)
c.2027G>A (p.Cys676Tyr)
n.2418G>A
n.2742G>A
n.2385G>A
 gnomAD v4
19g.11129531G>CCA404098407LDLRc.2666G>C (p.Cys889Ser)
c.*477G>C (n.*477G>C)
c.2288G>C (p.Cys763Ser)
c.2408G>C (p.Cys803Ser)
c.2662G>C
c.1904G>C (p.Cys635Ser)
c.2285G>C (p.Cys762Ser)
c.1874G>C (p.Cys625Ser)
c.2470G>C (p.Ala824Pro)
n.108+1877G>C
c.2330G>C (p.Cys777Ser)
c.2027G>C (p.Cys676Ser)
n.2418G>C
n.2742G>C
n.2385G>C
 ClinVar gnomAD v4
19g.11129531G>TCA404098406LDLRc.2666G>T (p.Cys889Phe)
c.*477G>T (n.*477G>T)
c.2288G>T (p.Cys763Phe)
c.2408G>T (p.Cys803Phe)
c.2662G>T
c.1904G>T (p.Cys635Phe)
c.2285G>T (p.Cys762Phe)
c.1874G>T (p.Cys625Phe)
c.2470G>T (p.Ala824Ser)
n.108+1877G>T
c.2330G>T (p.Cys777Phe)
c.2027G>T (p.Cys676Phe)
n.2418G>T
n.2742G>T
n.2385G>T
19g.11129531_11129532dupCA10585856LDLRc.2666_2667dup (p.Leu890AlafsTer?)
c.*477_*478dup (n.*477_*478dup)
c.2288_2289dup (p.Leu764AlafsTer?)
c.2408_2409dup (p.Leu804AlafsTer?)
c.2662_2663dup
c.1904_1905dup (p.Leu636AlafsTer?)
c.2285_2286dup (p.Leu763AlafsTer?)
c.1874_1875dup (p.Leu626AlafsTer?)
c.2470_2471dup (p.Trp825ProfsTer13)
n.108+1877_108+1878dup
c.2330_2331dup (p.Leu778AlafsTer?)
c.2027_2028dup (p.Leu677AlafsTer?)
n.2418_2419dup
n.2742_2743dup
n.2385_2386dup
 ClinVar dbSNP
19g.11129531_11129548dupCA2739276489LDLRc.2666_2683dup (p.Leu894_Leu895insArgLeuGlyValPheLeu)
c.*477_*494dup (n.*477_*494dup)
c.2288_2305dup (p.Leu768_Leu769insArgLeuGlyValPheLeu)
c.2408_2425dup (p.Leu808_Leu809insArgLeuGlyValPheLeu)
c.2662_2679dup
c.1904_1921dup (p.Leu640_Leu641insArgLeuGlyValPheLeu)
c.2285_2302dup (p.Leu767_Leu768insArgLeuGlyValPheLeu)
c.1874_1891dup (p.Leu630_Leu631insArgLeuGlyValPheLeu)
c.2470_2487dup (p.Phe829_Tyr830insAlaTrpGlySerSerPhe)
n.108+1877_108+1894dup
c.2330_2347dup (p.Leu782_Leu783insArgLeuGlyValPheLeu)
c.2027_2044dup (p.Leu681_Leu682insArgLeuGlyValPheLeu)
n.2418_2435dup
n.2742_2759dup
n.2385_2402dup
 ClinVar
19g.11129532C>ACA404098409LDLRc.2667C>A (p.Cys889Ter)
c.*478C>A (n.*478C>A)
c.2289C>A (p.Cys763Ter)
c.2409C>A (p.Cys803Ter)
c.2663C>A
c.1905C>A (p.Cys635Ter)
c.2286C>A (p.Cys762Ter)
c.1875C>A (p.Cys625Ter)
c.2471C>A (p.Ala824Asp)
n.108+1878C>A
c.2331C>A (p.Cys777Ter)
c.2028C>A (p.Cys676Ter)
n.2419C>A
n.2743C>A
n.2386C>A
 dbSNP
19g.11129532C=CA2322780259LDLRc.2667C= (p.Cys889=)
c.*478C= (n.*478C=)
c.2289C= (p.Cys763=)
c.2409C= (p.Cys803=)
c.2663C=
c.1905C= (p.Cys635=)
c.2286C= (p.Cys762=)
c.1875C= (p.Cys625=)
c.2471C= (p.Ala824=)
n.108+1878C=
c.2331C= (p.Cys777=)
c.2028C= (p.Cys676=)
n.2419C=
n.2743C=
n.2386C=
19g.11129532C>GCA404098411LDLRc.2667C>G (p.Cys889Trp)
c.*478C>G (n.*478C>G)
c.2289C>G (p.Cys763Trp)
c.2409C>G (p.Cys803Trp)
c.2663C>G
c.1905C>G (p.Cys635Trp)
c.2286C>G (p.Cys762Trp)
c.1875C>G (p.Cys625Trp)
c.2471C>G (p.Ala824Gly)
n.108+1878C>G
c.2331C>G (p.Cys777Trp)
c.2028C>G (p.Cys676Trp)
n.2419C>G
n.2743C>G
n.2386C>G
19g.11129532C>TCA404098413LDLRc.2667C>T (p.Cys889=)
c.*478C>T (n.*478C>T)
c.2289C>T (p.Cys763=)
c.2409C>T (p.Cys803=)
c.2663C>T
c.1905C>T (p.Cys635=)
c.2286C>T (p.Cys762=)
c.1875C>T (p.Cys625=)
c.2471C>T (p.Ala824Val)
n.108+1878C>T
c.2331C>T (p.Cys777=)
c.2028C>T (p.Cys676=)
n.2419C>T
n.2743C>T
n.2386C>T
 ClinVar dbSNP
19g.11129533C>ACA404098416LDLRc.2668C>A (p.Leu890Met)
c.*479C>A (n.*479C>A)
c.2290C>A (p.Leu764Met)
c.2410C>A (p.Leu804Met)
c.2664C>A
c.1906C>A (p.Leu636Met)
c.2287C>A (p.Leu763Met)
c.1876C>A (p.Leu626Met)
c.2472C>A (p.Ala824=)
n.108+1879C>A
c.2332C>A (p.Leu778Met)
c.2029C>A (p.Leu677Met)
n.2420C>A
n.2744C>A
n.2387C>A
 dbSNP
19g.11129533C=CA2322780260LDLRc.2668C= (p.Leu890=)
c.*479C= (n.*479C=)
c.2290C= (p.Leu764=)
c.2410C= (p.Leu804=)
c.2664C=
c.1906C= (p.Leu636=)
c.2287C= (p.Leu763=)
c.1876C= (p.Leu626=)
c.2472C= (p.Ala824=)
n.108+1879C=
c.2332C= (p.Leu778=)
c.2029C= (p.Leu677=)
n.2420C=
n.2744C=
n.2387C=
19g.11129533C>GCA404098419LDLRc.2668C>G (p.Leu890Val)
c.*479C>G (n.*479C>G)
c.2290C>G (p.Leu764Val)
c.2410C>G (p.Leu804Val)
c.2664C>G
c.1906C>G (p.Leu636Val)
c.2287C>G (p.Leu763Val)
c.1876C>G (p.Leu626Val)
c.2472C>G (p.Ala824=)
n.108+1879C>G
c.2332C>G (p.Leu778Val)
c.2029C>G (p.Leu677Val)
n.2420C>G
n.2744C>G
n.2387C>G
19g.11129533C>TCA505743515LDLRc.2668C>T (p.Leu890=)
c.*479C>T (n.*479C>T)
c.2290C>T (p.Leu764=)
c.2410C>T (p.Leu804=)
c.2664C>T
c.1906C>T (p.Leu636=)
c.2287C>T (p.Leu763=)
c.1876C>T (p.Leu626=)
c.2472C>T (p.Ala824=)
n.108+1879C>T
c.2332C>T (p.Leu778=)
c.2029C>T (p.Leu677=)
n.2420C>T
n.2744C>T
n.2387C>T
 ClinVar
19g.11129533_11129534dupCA645611974LDLRc.2668_2669dup (p.Gly891TrpfsTer?)
c.*479_*480dup (n.*479_*480dup)
c.2290_2291dup (p.Gly765TrpfsTer?)
c.2410_2411dup (p.Gly805TrpfsTer?)
c.2664_2665dup
c.1906_1907dup (p.Gly637TrpfsTer?)
c.2287_2288dup (p.Gly764TrpfsTer?)
c.1876_1877dup (p.Gly627TrpfsTer?)
c.2472_2473dup (p.Trp825SerfsTer13)
n.108+1879_108+1880dup
c.2332_2333dup (p.Gly779TrpfsTer?)
c.2029_2030dup (p.Gly678TrpfsTer?)
n.2420_2421dup
n.2744_2745dup
n.2387_2388dup
 COSMIC
19g.11129534delCA2695228331LDLRc.2669del (p.Leu890ArgfsTer?)
c.*480del (n.*480del)
c.2291del (p.Leu764ArgfsTer?)
c.2411del (p.Leu804ArgfsTer?)
c.2665del
c.1907del (p.Leu636ArgfsTer?)
c.2288del (p.Leu763ArgfsTer?)
c.1877del (p.Leu626ArgfsTer?)
c.2473del (p.Trp825GlyfsTer12)
n.108+1880del
c.2333del (p.Leu778ArgfsTer?)
c.2030del (p.Leu677ArgfsTer?)
n.2421del
n.2745del
n.2388del
19g.11129534T>ACA404098423LDLRc.2669T>A (p.Leu890Gln)
c.*480T>A (n.*480T>A)
c.2291T>A (p.Leu764Gln)
c.2411T>A (p.Leu804Gln)
c.2665T>A
c.1907T>A (p.Leu636Gln)
c.2288T>A (p.Leu763Gln)
c.1877T>A (p.Leu626Gln)
c.2473T>A (p.Trp825Arg)
n.108+1880T>A
c.2333T>A (p.Leu778Gln)
c.2030T>A (p.Leu677Gln)
n.2421T>A
n.2745T>A
n.2388T>A
19g.11129534T>CCA10585857LDLRc.2669T>C (p.Leu890Pro)
c.*480T>C (n.*480T>C)
c.2291T>C (p.Leu764Pro)
c.2411T>C (p.Leu804Pro)
c.2665T>C
c.1907T>C (p.Leu636Pro)
c.2288T>C (p.Leu763Pro)
c.1877T>C (p.Leu626Pro)
c.2473T>C (p.Trp825Arg)
n.108+1880T>C
c.2333T>C (p.Leu778Pro)
c.2030T>C (p.Leu677Pro)
n.2421T>C
n.2745T>C
n.2388T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11129534T>GCA404098426LDLRc.2669T>G (p.Leu890Arg)
c.*480T>G (n.*480T>G)
c.2291T>G (p.Leu764Arg)
c.2411T>G (p.Leu804Arg)
c.2665T>G
c.1907T>G (p.Leu636Arg)
c.2288T>G (p.Leu763Arg)
c.1877T>G (p.Leu626Arg)
c.2473T>G (p.Trp825Gly)
n.108+1880T>G
c.2333T>G (p.Leu778Arg)
c.2030T>G (p.Leu677Arg)
n.2421T>G
n.2745T>G
n.2388T>G
19g.11129534T=CA2322780262LDLRc.2669T= (p.Leu890=)
c.*480T= (n.*480T=)
c.2291T= (p.Leu764=)
c.2411T= (p.Leu804=)
c.2665T=
c.1907T= (p.Leu636=)
c.2288T= (p.Leu763=)
c.1877T= (p.Leu626=)
c.2473T= (p.Trp825=)
n.108+1880T=
c.2333T= (p.Leu778=)
c.2030T= (p.Leu677=)
n.2421T=
n.2745T=
n.2388T=
19g.11129534_11129535delinsTGCA2322780261LDLRc.2669_2670delinsTG (p.Leu890=)
c.*480_*481delinsTG (n.*480_*481delinsTG)
c.2291_2292delinsTG (p.Leu764=)
c.2411_2412delinsTG (p.Leu804=)
c.2665_2666delinsTG
c.1907_1908delinsTG (p.Leu636=)
c.2288_2289delinsTG (p.Leu763=)
c.1877_1878delinsTG (p.Leu626=)
c.2473_2474delinsTG (p.Trp825=)
n.108+1880_108+1881delinsTG
c.2333_2334delinsTG (p.Leu778=)
c.2030_2031delinsTG (p.Leu677=)
n.2421_2422delinsTG
n.2745_2746delinsTG
n.2388_2389delinsTG
19g.11129535G>ACA404098430LDLRc.2670G>A (p.Leu890=)
c.*481G>A (n.*481G>A)
c.2292G>A (p.Leu764=)
c.2412G>A (p.Leu804=)
c.2666G>A
c.1908G>A (p.Leu636=)
c.2289G>A (p.Leu763=)
c.1878G>A (p.Leu626=)
c.2474G>A (p.Trp825Ter)
n.108+1881G>A
c.2334G>A (p.Leu778=)
c.2031G>A (p.Leu677=)
n.2422G>A
n.2746G>A
n.2389G>A
 ClinVar dbSNP gnomAD v4
19g.11129535G>CCA404098437LDLRc.2670G>C (p.Leu890=)
c.*481G>C (n.*481G>C)
c.2292G>C (p.Leu764=)
c.2412G>C (p.Leu804=)
c.2666G>C
c.1908G>C (p.Leu636=)
c.2289G>C (p.Leu763=)
c.1878G>C (p.Leu626=)
c.2474G>C (p.Trp825Ser)
n.108+1881G>C
c.2334G>C (p.Leu778=)
c.2031G>C (p.Leu677=)
n.2422G>C
n.2746G>C
n.2389G>C
19g.11129535G=CA2322780263LDLRc.2670G= (p.Leu890=)
c.*481G= (n.*481G=)
c.2292G= (p.Leu764=)
c.2412G= (p.Leu804=)
c.2666G=
c.1908G= (p.Leu636=)
c.2289G= (p.Leu763=)
c.1878G= (p.Leu626=)
c.2474G= (p.Trp825=)
n.108+1881G=
c.2334G= (p.Leu778=)
c.2031G= (p.Leu677=)
n.2422G=
n.2746G=
n.2389G=
19g.11129535G>TCA404098440LDLRc.2670G>T (p.Leu890=)
c.*481G>T (n.*481G>T)
c.2292G>T (p.Leu764=)
c.2412G>T (p.Leu804=)
c.2666G>T
c.1908G>T (p.Leu636=)
c.2289G>T (p.Leu763=)
c.1878G>T (p.Leu626=)
c.2474G>T (p.Trp825Leu)
n.108+1881G>T
c.2334G>T (p.Leu778=)
c.2031G>T (p.Leu677=)
n.2422G>T
n.2746G>T
n.2389G>T
 dbSNP
19g.11129539dupCA040715LDLRc.2674dup (p.Val892GlyfsTer11)
c.*485dup (n.*485dup)
c.2296dup (p.Val766GlyfsTer11)
c.2416dup (p.Val806GlyfsTer11)
c.2670dup
c.1912dup (p.Val638GlyfsTer11)
c.2293dup (p.Val765GlyfsTer11)
c.1882dup (p.Val628GlyfsTer11)
c.2478dup (p.Ser827ValfsTer?)
n.108+1885dup
c.2338dup (p.Val780GlyfsTer11)
c.2035dup (p.Val679GlyfsTer11)
n.2426dup
n.2750dup
n.2393dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11129538_11129539dupCA2695228332LDLRc.2673_2674dup (p.Val892GlyfsTer?)
c.*484_*485dup (n.*484_*485dup)
c.2295_2296dup (p.Val766GlyfsTer?)
c.2415_2416dup (p.Val806GlyfsTer?)
c.2669_2670dup
c.1911_1912dup (p.Val638GlyfsTer?)
c.2292_2293dup (p.Val765GlyfsTer?)
c.1881_1882dup (p.Val628GlyfsTer?)
c.2477_2478dup (p.Ser827GlyfsTer11)
n.108+1884_108+1885dup
c.2337_2338dup (p.Val780GlyfsTer?)
c.2034_2035dup (p.Val679GlyfsTer?)
n.2425_2426dup
n.2749_2750dup
n.2392_2393dup
19g.11129539delCA10585859LDLRc.2674del (p.Val892SerfsTer?)
c.*485del (n.*485del)
c.2296del (p.Val766SerfsTer?)
c.2416del (p.Val806SerfsTer?)
c.2670del
c.1912del (p.Val638SerfsTer?)
c.2293del (p.Val765SerfsTer?)
c.1882del (p.Val628SerfsTer?)
c.2478del (p.Ser827LeufsTer10)
n.108+1885del
c.2338del (p.Val780SerfsTer?)
c.2035del (p.Val679SerfsTer?)
n.2426del
n.2750del
n.2393del
 ClinVar dbSNP
19g.11129536G>ACA10585858LDLRc.2671G>A (p.Gly891Arg)
c.*482G>A (n.*482G>A)
c.2293G>A (p.Gly765Arg)
c.2413G>A (p.Gly805Arg)
c.2667G>A
c.1909G>A (p.Gly637Arg)
c.2290G>A (p.Gly764Arg)
c.1879G>A (p.Gly627Arg)
c.2475G>A (p.Trp825Ter)
n.108+1882G>A
c.2335G>A (p.Gly779Arg)
c.2032G>A (p.Gly678Arg)
n.2423G>A
n.2747G>A
n.2390G>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.11129536G>CCA404098452LDLRc.2671G>C (p.Gly891Arg)
c.*482G>C (n.*482G>C)
c.2293G>C (p.Gly765Arg)
c.2413G>C (p.Gly805Arg)
c.2667G>C
c.1909G>C (p.Gly637Arg)
c.2290G>C (p.Gly764Arg)
c.1879G>C (p.Gly627Arg)
c.2475G>C (p.Trp825Cys)
n.108+1882G>C
c.2335G>C (p.Gly779Arg)
c.2032G>C (p.Gly678Arg)
n.2423G>C
n.2747G>C
n.2390G>C
 ClinVar dbSNP gnomAD v4
19g.11129536G=CA2322780264LDLRc.2671G= (p.Gly891=)
c.*482G= (n.*482G=)
c.2293G= (p.Gly765=)
c.2413G= (p.Gly805=)
c.2667G=
c.1909G= (p.Gly637=)
c.2290G= (p.Gly764=)
c.1879G= (p.Gly627=)
c.2475G= (p.Trp825=)
n.108+1882G=
c.2335G= (p.Gly779=)
c.2032G= (p.Gly678=)
n.2423G=
n.2747G=
n.2390G=
19g.11129536G>TCA404098449LDLRc.2671G>T (p.Gly891Trp)
c.*482G>T (n.*482G>T)
c.2293G>T (p.Gly765Trp)
c.2413G>T (p.Gly805Trp)
c.2667G>T
c.1909G>T (p.Gly637Trp)
c.2290G>T (p.Gly764Trp)
c.1879G>T (p.Gly627Trp)
c.2475G>T (p.Trp825Cys)
n.108+1882G>T
c.2335G>T (p.Gly779Trp)
c.2032G>T (p.Gly678Trp)
n.2423G>T
n.2747G>T
n.2390G>T
19g.11129537G>ACA404098458LDLRc.2672G>A (p.Gly891Glu)
c.*483G>A (n.*483G>A)
c.2294G>A (p.Gly765Glu)
c.2414G>A (p.Gly805Glu)
c.2668G>A
c.1910G>A (p.Gly637Glu)
c.2291G>A (p.Gly764Glu)
c.1880G>A (p.Gly627Glu)
c.2476G>A (p.Gly826Arg)
n.108+1883G>A
c.2336G>A (p.Gly779Glu)
c.2033G>A (p.Gly678Glu)
n.2424G>A
n.2748G>A
n.2391G>A
 ClinVar dbSNP gnomAD v4
19g.11129537G>CCA404098463LDLRc.2672G>C (p.Gly891Ala)
c.*483G>C (n.*483G>C)
c.2294G>C (p.Gly765Ala)
c.2414G>C (p.Gly805Ala)
c.2668G>C
c.1910G>C (p.Gly637Ala)
c.2291G>C (p.Gly764Ala)
c.1880G>C (p.Gly627Ala)
c.2476G>C (p.Gly826Arg)
n.108+1883G>C
c.2336G>C (p.Gly779Ala)
c.2033G>C (p.Gly678Ala)
n.2424G>C
n.2748G>C
n.2391G>C
19g.11129537G>TCA404098461LDLRc.2672G>T (p.Gly891Val)
c.*483G>T (n.*483G>T)
c.2294G>T (p.Gly765Val)
c.2414G>T (p.Gly805Val)
c.2668G>T
c.1910G>T (p.Gly637Val)
c.2291G>T (p.Gly764Val)
c.1880G>T (p.Gly627Val)
c.2476G>T (p.Gly826Trp)
n.108+1883G>T
c.2336G>T (p.Gly779Val)
c.2033G>T (p.Gly678Val)
n.2424G>T
n.2748G>T
n.2391G>T
19g.11129538G>ACA404098469LDLRc.2673G>A (p.Gly891=)
c.*484G>A (n.*484G>A)
c.2295G>A (p.Gly765=)
c.2415G>A (p.Gly805=)
c.2669G>A
c.1911G>A (p.Gly637=)
c.2292G>A (p.Gly764=)
c.1881G>A (p.Gly627=)
c.2477G>A (p.Gly826Glu)
n.108+1884G>A
c.2337G>A (p.Gly779=)
c.2034G>A (p.Gly678=)
n.2425G>A
n.2749G>A
n.2392G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.11129538G>CCA404098485LDLRc.2673G>C (p.Gly891=)
c.*484G>C (n.*484G>C)
c.2295G>C (p.Gly765=)
c.2415G>C (p.Gly805=)
c.2669G>C
c.1911G>C (p.Gly637=)
c.2292G>C (p.Gly764=)
c.1881G>C (p.Gly627=)
c.2477G>C (p.Gly826Ala)
n.108+1884G>C
c.2337G>C (p.Gly779=)
c.2034G>C (p.Gly678=)
n.2425G>C
n.2749G>C
n.2392G>C
 dbSNP
19g.11129538G=CA2322780265LDLRc.2673G= (p.Gly891=)
c.*484G= (n.*484G=)
c.2295G= (p.Gly765=)
c.2415G= (p.Gly805=)
c.2669G=
c.1911G= (p.Gly637=)
c.2292G= (p.Gly764=)
c.1881G= (p.Gly627=)
c.2477G= (p.Gly826=)
n.108+1884G=
c.2337G= (p.Gly779=)
c.2034G= (p.Gly678=)
n.2425G=
n.2749G=
n.2392G=
19g.11129538G>TCA404098473LDLRc.2673G>T (p.Gly891=)
c.*484G>T (n.*484G>T)
c.2295G>T (p.Gly765=)
c.2415G>T (p.Gly805=)
c.2669G>T
c.1911G>T (p.Gly637=)
c.2292G>T (p.Gly764=)
c.1881G>T (p.Gly627=)
c.2477G>T (p.Gly826Val)
n.108+1884G>T
c.2337G>T (p.Gly779=)
c.2034G>T (p.Gly678=)
n.2425G>T
n.2749G>T
n.2392G>T
19g.11129538_11129539insACA2499306837LDLRc.2673_2674insA (p.Val892SerfsTer11)
c.*484_*485insA (n.*484_*485insA)
c.2295_2296insA (p.Val766SerfsTer11)
c.2415_2416insA (p.Val806SerfsTer11)
c.2669_2670insA
c.1911_1912insA (p.Val638SerfsTer11)
c.2292_2293insA (p.Val765SerfsTer11)
c.1881_1882insA (p.Val628SerfsTer11)
c.2477_2478insA (p.Ser827ValfsTer?)
n.108+1884_108+1885insA
c.2337_2338insA (p.Val780SerfsTer11)
c.2034_2035insA (p.Val679SerfsTer11)
n.2425_2426insA
n.2749_2750insA
n.2392_2393insA
19g.11129539G>ACA404098496LDLRc.2674G>A (p.Val892Ile)
c.*485G>A (n.*485G>A)
c.2296G>A (p.Val766Ile)
c.2416G>A (p.Val806Ile)
c.2670G>A
c.1912G>A (p.Val638Ile)
c.2293G>A (p.Val765Ile)
c.1882G>A (p.Val628Ile)
c.2478G>A (p.Gly826=)
n.108+1885G>A
c.2338G>A (p.Val780Ile)
c.2035G>A (p.Val679Ile)
n.2426G>A
n.2750G>A
n.2393G>A
19g.11129539G>CCA404098504LDLRc.2674G>C (p.Val892Leu)
c.*485G>C (n.*485G>C)
c.2296G>C (p.Val766Leu)
c.2416G>C (p.Val806Leu)
c.2670G>C
c.1912G>C (p.Val638Leu)
c.2293G>C (p.Val765Leu)
c.1882G>C (p.Val628Leu)
c.2478G>C (p.Gly826=)
n.108+1885G>C
c.2338G>C (p.Val780Leu)
c.2035G>C (p.Val679Leu)
n.2426G>C
n.2750G>C
n.2393G>C
 dbSNP gnomAD v3 gnomAD v4
19g.11129539G=CA2322780267LDLRc.2674G= (p.Val892=)
c.*485G= (n.*485G=)
c.2296G= (p.Val766=)
c.2416G= (p.Val806=)
c.2670G=
c.1912G= (p.Val638=)
c.2293G= (p.Val765=)
c.1882G= (p.Val628=)
c.2478G= (p.Gly826=)
n.108+1885G=
c.2338G= (p.Val780=)
c.2035G= (p.Val679=)
n.2426G=
n.2750G=
n.2393G=
19g.11129539G>TCA040732LDLRc.2674G>T (p.Val892Phe)
c.*485G>T (n.*485G>T)
c.2296G>T (p.Val766Phe)
c.2416G>T (p.Val806Phe)
c.2670G>T
c.1912G>T (p.Val638Phe)
c.2293G>T (p.Val765Phe)
c.1882G>T (p.Val628Phe)
c.2478G>T (p.Gly826=)
n.108+1885G>T
c.2338G>T (p.Val780Phe)
c.2035G>T (p.Val679Phe)
n.2426G>T
n.2750G>T
n.2393G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11129539_11129541delinsAGAAGCA2573050627LDLRc.2674_2676delinsAGAAG (p.Val892ArgfsTer?)
c.*485_*487delinsAGAAG (n.*485_*487delinsAGAAG)
c.2296_2298delinsAGAAG (p.Val766ArgfsTer?)
c.2416_2418delinsAGAAG (p.Val806ArgfsTer?)
c.2670_2672delinsAGAAG
c.1912_1914delinsAGAAG (p.Val638ArgfsTer?)
c.2293_2295delinsAGAAG (p.Val765ArgfsTer?)
c.1882_1884delinsAGAAG (p.Val628ArgfsTer?)
c.2478_2480delinsAGAAG (p.Ser827GlufsTer11)
n.108+1885_108+1887delinsAGAAG
c.2338_2340delinsAGAAG (p.Val780ArgfsTer?)
c.2035_2037delinsAGAAG (p.Val679ArgfsTer?)
n.2426_2428delinsAGAAG
n.2750_2752delinsAGAAG
n.2393_2395delinsAGAAG
19g.11129539_11129546delinsGTCTTCCTCA2322780266LDLRc.2674_2681delinsGTCTTCCT (p.Val892=)
c.*485_*492delinsGTCTTCCT (n.*485_*492delinsGTCTTCCT)
c.2296_2303delinsGTCTTCCT (p.Val766=)
c.2416_2423delinsGTCTTCCT (p.Val806=)
c.2670_2677delinsGTCTTCCT
c.1912_1919delinsGTCTTCCT (p.Val638=)
c.2293_2300delinsGTCTTCCT (p.Val765=)
c.1882_1889delinsGTCTTCCT (p.Val628=)
c.2478_2485delinsGTCTTCCT (p.Gly826=)
n.108+1885_108+1892delinsGTCTTCCT
c.2338_2345delinsGTCTTCCT (p.Val780=)
c.2035_2042delinsGTCTTCCT (p.Val679=)
n.2426_2433delinsGTCTTCCT
n.2750_2757delinsGTCTTCCT
n.2393_2400delinsGTCTTCCT
19g.11129540T>ACA10585860LDLRc.2675T>A (p.Val892Asp)
c.*486T>A (n.*486T>A)
c.2297T>A (p.Val766Asp)
c.2417T>A (p.Val806Asp)
c.2671T>A
c.1913T>A (p.Val638Asp)
c.2294T>A (p.Val765Asp)
c.1883T>A (p.Val628Asp)
c.2479T>A (p.Ser827Thr)
n.108+1886T>A
c.2339T>A (p.Val780Asp)
c.2036T>A (p.Val679Asp)
n.2427T>A
n.2751T>A
n.2394T>A
 ClinVar dbSNP
19g.11129540T>CCA404098523LDLRc.2675T>C (p.Val892Ala)
c.*486T>C (n.*486T>C)
c.2297T>C (p.Val766Ala)
c.2417T>C (p.Val806Ala)
c.2671T>C
c.1913T>C (p.Val638Ala)
c.2294T>C (p.Val765Ala)
c.1883T>C (p.Val628Ala)
c.2479T>C (p.Ser827Pro)
n.108+1886T>C
c.2339T>C (p.Val780Ala)
c.2036T>C (p.Val679Ala)
n.2427T>C
n.2751T>C
n.2394T>C
 dbSNP gnomAD v4
19g.11129540T>GCA404098536LDLRc.2675T>G (p.Val892Gly)
c.*486T>G (n.*486T>G)
c.2297T>G (p.Val766Gly)
c.2417T>G (p.Val806Gly)
c.2671T>G
c.1913T>G (p.Val638Gly)
c.2294T>G (p.Val765Gly)
c.1883T>G (p.Val628Gly)
c.2479T>G (p.Ser827Ala)
n.108+1886T>G
c.2339T>G (p.Val780Gly)
c.2036T>G (p.Val679Gly)
n.2427T>G
n.2751T>G
n.2394T>G
19g.11129540T=CA2322780268LDLRc.2675T= (p.Val892=)
c.*486T= (n.*486T=)
c.2297T= (p.Val766=)
c.2417T= (p.Val806=)
c.2671T=
c.1913T= (p.Val638=)
c.2294T= (p.Val765=)
c.1883T= (p.Val628=)
c.2479T= (p.Ser827=)
n.108+1886T=
c.2339T= (p.Val780=)
c.2036T= (p.Val679=)
n.2427T=
n.2751T=
n.2394T=
19g.11129540dupCA2573320459LDLRc.2675dup (p.Phe893LeufsTer10)
c.*486dup (n.*486dup)
c.2297dup (p.Phe767LeufsTer10)
c.2417dup (p.Phe807LeufsTer10)
c.2671dup
c.1913dup (p.Phe639LeufsTer10)
c.2294dup (p.Phe766LeufsTer10)
c.1883dup (p.Phe629LeufsTer10)
c.2479dup (p.Ser827PhefsTer?)
n.108+1886dup
c.2339dup (p.Phe781LeufsTer10)
c.2036dup (p.Phe680LeufsTer10)
n.2427dup
n.2751dup
n.2394dup
19g.11129540_11129544delinsTCTTCCA2322780269LDLRc.2675_2679delinsTCTTC (p.Val892=)
c.*486_*490delinsTCTTC (n.*486_*490delinsTCTTC)
c.2297_2301delinsTCTTC (p.Val766=)
c.2417_2421delinsTCTTC (p.Val806=)
c.2671_2675delinsTCTTC
c.1913_1917delinsTCTTC (p.Val638=)
c.2294_2298delinsTCTTC (p.Val765=)
c.1883_1887delinsTCTTC (p.Val628=)
c.2479_2483delinsTCTTC (p.Ser827=)
n.108+1886_108+1890delinsTCTTC
c.2339_2343delinsTCTTC (p.Val780=)
c.2036_2040delinsTCTTC (p.Val679=)
n.2427_2431delinsTCTTC
n.2751_2755delinsTCTTC
n.2394_2398delinsTCTTC
19g.11129543_11129549delCA10585863LDLRc.2678_2684del (p.Phe893TyrfsTer?)
c.*489_*495del (n.*489_*495del)
c.2300_2306del (p.Phe767TyrfsTer?)
c.2420_2426del (p.Phe807TyrfsTer?)
c.2674_2680del
c.1916_1922del (p.Phe639TyrfsTer?)
c.2297_2303del (p.Phe766TyrfsTer?)
c.1886_1892del (p.Phe629TyrfsTer?)
c.2482_2488del (p.Ser828MetfsTer7)
n.108+1889_108+1895del
c.2342_2348del (p.Phe781TyrfsTer?)
c.2039_2045del (p.Phe680TyrfsTer?)
n.2430_2436del
n.2754_2760del
n.2397_2403del
 ClinVar dbSNP
19g.11129540_11129541insGCA10585861LDLRc.2675_2676insG (p.Phe893LeufsTer10)
c.*486_*487insG (n.*486_*487insG)
c.2297_2298insG (p.Phe767LeufsTer10)
c.2417_2418insG (p.Phe807LeufsTer10)
c.2671_2672insG
c.1913_1914insG (p.Phe639LeufsTer10)
c.2294_2295insG (p.Phe766LeufsTer10)
c.1883_1884insG (p.Phe629LeufsTer10)
c.2479_2480insG (p.Ser827CysfsTer?)
n.108+1886_108+1887insG
c.2339_2340insG (p.Phe781LeufsTer10)
c.2036_2037insG (p.Phe680LeufsTer10)
n.2427_2428insG
n.2751_2752insG
n.2394_2395insG
 ClinVar dbSNP
19g.11129540_11129541insGGCA10585862LDLRc.2675_2676insGG (p.Phe893AlafsTer?)
c.*486_*487insGG (n.*486_*487insGG)
c.2297_2298insGG (p.Phe767AlafsTer?)
c.2417_2418insGG (p.Phe807AlafsTer?)
c.2671_2672insGG
c.1913_1914insGG (p.Phe639AlafsTer?)
c.2294_2295insGG (p.Phe766AlafsTer?)
c.1883_1884insGG (p.Phe629AlafsTer?)
c.2479_2480insGG (p.Ser827TrpfsTer11)
n.108+1886_108+1887insGG
c.2339_2340insGG (p.Phe781AlafsTer?)
c.2036_2037insGG (p.Phe680AlafsTer?)
n.2427_2428insGG
n.2751_2752insGG
n.2394_2395insGG
 ClinVar dbSNP
19g.11129541C>ACA040743LDLRc.2676C>A (p.Val892=)
c.*487C>A (n.*487C>A)
c.2298C>A (p.Val766=)
c.2418C>A (p.Val806=)
c.2672C>A
c.1914C>A (p.Val638=)
c.2295C>A (p.Val765=)
c.1884C>A (p.Val628=)
c.2480C>A (p.Ser827Tyr)
n.108+1887C>A
c.2340C>A (p.Val780=)
c.2037C>A (p.Val679=)
n.2428C>A
n.2752C>A
n.2395C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11129541C=CA2322780270LDLRc.2676C= (p.Val892=)
c.*487C= (n.*487C=)
c.2298C= (p.Val766=)
c.2418C= (p.Val806=)
c.2672C=
c.1914C= (p.Val638=)
c.2295C= (p.Val765=)
c.1884C= (p.Val628=)
c.2480C= (p.Ser827=)
n.108+1887C=
c.2340C= (p.Val780=)
c.2037C= (p.Val679=)
n.2428C=
n.2752C=
n.2395C=
19g.11129541C>GCA404098554LDLRc.2676C>G (p.Val892=)
c.*487C>G (n.*487C>G)
c.2298C>G (p.Val766=)
c.2418C>G (p.Val806=)
c.2672C>G
c.1914C>G (p.Val638=)
c.2295C>G (p.Val765=)
c.1884C>G (p.Val628=)
c.2480C>G (p.Ser827Cys)
n.108+1887C>G
c.2340C>G (p.Val780=)
c.2037C>G (p.Val679=)
n.2428C>G
n.2752C>G
n.2395C>G
19g.11129541C>TCA404098558LDLRc.2676C>T (p.Val892=)
c.*487C>T (n.*487C>T)
c.2298C>T (p.Val766=)
c.2418C>T (p.Val806=)
c.2672C>T
c.1914C>T (p.Val638=)
c.2295C>T (p.Val765=)
c.1884C>T (p.Val628=)
c.2480C>T (p.Ser827Phe)
n.108+1887C>T
c.2340C>T (p.Val780=)
c.2037C>T (p.Val679=)
n.2428C>T
n.2752C>T
n.2395C>T
19g.11129545_11129548delCA645509302LDLRc.2680_2683del (p.Leu894TyrfsTer?)
c.*491_*494del (n.*491_*494del)
c.2302_2305del (p.Leu768TyrfsTer?)
c.2422_2425del (p.Leu808TyrfsTer?)
c.2676_2679del
c.1918_1921del (p.Leu640TyrfsTer?)
c.2299_2302del (p.Leu767TyrfsTer?)
c.1888_1891del (p.Leu630TyrfsTer?)
c.2484_2487del (p.Phe829MetfsTer7)
n.108+1891_108+1894del
c.2344_2347del (p.Leu782TyrfsTer?)
c.2041_2044del (p.Leu681TyrfsTer?)
n.2432_2435del
n.2756_2759del
n.2399_2402del
 ClinVar dbSNP
19g.11129542T>ACA404098562LDLRc.2677T>A (p.Phe893Ile)
c.*488T>A (n.*488T>A)
c.2299T>A (p.Phe767Ile)
c.2419T>A (p.Phe807Ile)
c.2673T>A
c.1915T>A (p.Phe639Ile)
c.2296T>A (p.Phe766Ile)
c.1885T>A (p.Phe629Ile)
c.2481T>A (p.Ser827=)
n.108+1888T>A
c.2341T>A (p.Phe781Ile)
c.2038T>A (p.Phe680Ile)
n.2429T>A
n.2753T>A
n.2396T>A
19g.11129542T>CCA404098563LDLRc.2677T>C (p.Phe893Leu)
c.*488T>C (n.*488T>C)
c.2299T>C (p.Phe767Leu)
c.2419T>C (p.Phe807Leu)
c.2673T>C
c.1915T>C (p.Phe639Leu)
c.2296T>C (p.Phe766Leu)
c.1885T>C (p.Phe629Leu)
c.2481T>C (p.Ser827=)
n.108+1888T>C
c.2341T>C (p.Phe781Leu)
c.2038T>C (p.Phe680Leu)
n.2429T>C
n.2753T>C
n.2396T>C
19g.11129542T>GCA404098564LDLRc.2677T>G (p.Phe893Val)
c.*488T>G (n.*488T>G)
c.2299T>G (p.Phe767Val)
c.2419T>G (p.Phe807Val)
c.2673T>G
c.1915T>G (p.Phe639Val)
c.2296T>G (p.Phe766Val)
c.1885T>G (p.Phe629Val)
c.2481T>G (p.Ser827=)
n.108+1888T>G
c.2341T>G (p.Phe781Val)
c.2038T>G (p.Phe680Val)
n.2429T>G
n.2753T>G
n.2396T>G
19g.11129543T>ACA404098566LDLRc.2678T>A (p.Phe893Tyr)
c.*489T>A (n.*489T>A)
c.2300T>A (p.Phe767Tyr)
c.2420T>A (p.Phe807Tyr)
c.2674T>A
c.1916T>A (p.Phe639Tyr)
c.2297T>A (p.Phe766Tyr)
c.1886T>A (p.Phe629Tyr)
c.2482T>A (p.Ser828Thr)
n.108+1889T>A
c.2342T>A (p.Phe781Tyr)
c.2039T>A (p.Phe680Tyr)
n.2430T>A
n.2754T>A
n.2397T>A
19g.11129543T>CCA404098573LDLRc.2678T>C (p.Phe893Ser)
c.*489T>C (n.*489T>C)
c.2300T>C (p.Phe767Ser)
c.2420T>C (p.Phe807Ser)
c.2674T>C
c.1916T>C (p.Phe639Ser)
c.2297T>C (p.Phe766Ser)
c.1886T>C (p.Phe629Ser)
c.2482T>C (p.Ser828Pro)
n.108+1889T>C
c.2342T>C (p.Phe781Ser)
c.2039T>C (p.Phe680Ser)
n.2430T>C
n.2754T>C
n.2397T>C
19g.11129543T>GCA404098567LDLRc.2678T>G (p.Phe893Cys)
c.*489T>G (n.*489T>G)
c.2300T>G (p.Phe767Cys)
c.2420T>G (p.Phe807Cys)
c.2674T>G
c.1916T>G (p.Phe639Cys)
c.2297T>G (p.Phe766Cys)
c.1886T>G (p.Phe629Cys)
c.2482T>G (p.Ser828Ala)
n.108+1889T>G
c.2342T>G (p.Phe781Cys)
c.2039T>G (p.Phe680Cys)
n.2430T>G
n.2754T>G
n.2397T>G
19g.11129544C>ACA404098578LDLRc.2679C>A (p.Phe893Leu)
c.*490C>A (n.*490C>A)
c.2301C>A (p.Phe767Leu)
c.2421C>A (p.Phe807Leu)
c.2675C>A
c.1917C>A (p.Phe639Leu)
c.2298C>A (p.Phe766Leu)
c.1887C>A (p.Phe629Leu)
c.2483C>A (p.Ser828Tyr)
n.108+1890C>A
c.2343C>A (p.Phe781Leu)
c.2040C>A (p.Phe680Leu)
n.2431C>A
n.2755C>A
n.2398C>A
19g.11129544C=CA2322780271LDLRc.2679C= (p.Phe893=)
c.*490C= (n.*490C=)
c.2301C= (p.Phe767=)
c.2421C= (p.Phe807=)
c.2675C=
c.1917C= (p.Phe639=)
c.2298C= (p.Phe766=)
c.1887C= (p.Phe629=)
c.2483C= (p.Ser828=)
n.108+1890C=
c.2343C= (p.Phe781=)
c.2040C= (p.Phe680=)
n.2431C=
n.2755C=
n.2398C=
19g.11129544C>GCA404098584LDLRc.2679C>G (p.Phe893Leu)
c.*490C>G (n.*490C>G)
c.2301C>G (p.Phe767Leu)
c.2421C>G (p.Phe807Leu)
c.2675C>G
c.1917C>G (p.Phe639Leu)
c.2298C>G (p.Phe766Leu)
c.1887C>G (p.Phe629Leu)
c.2483C>G (p.Ser828Cys)
n.108+1890C>G
c.2343C>G (p.Phe781Leu)
c.2040C>G (p.Phe680Leu)
n.2431C>G
n.2755C>G
n.2398C>G
19g.11129544C>TCA305309073LDLRc.2679C>T (p.Phe893=)
c.*490C>T (n.*490C>T)
c.2301C>T (p.Phe767=)
c.2421C>T (p.Phe807=)
c.2675C>T
c.1917C>T (p.Phe639=)
c.2298C>T (p.Phe766=)
c.1887C>T (p.Phe629=)
c.2483C>T (p.Ser828Phe)
n.108+1890C>T
c.2343C>T (p.Phe781=)
c.2040C>T (p.Phe680=)
n.2431C>T
n.2755C>T
n.2398C>T
 dbSNP gnomAD v4 COSMIC
19g.11129545C>ACA404098596LDLRc.2680C>A (p.Leu894Ile)
c.*491C>A (n.*491C>A)
c.2302C>A (p.Leu768Ile)
c.2422C>A (p.Leu808Ile)
c.2676C>A
c.1918C>A (p.Leu640Ile)
c.2299C>A (p.Leu767Ile)
c.1888C>A (p.Leu630Ile)
c.2484C>A (p.Ser828=)
n.108+1891C>A
c.2344C>A (p.Leu782Ile)
c.2041C>A (p.Leu681Ile)
n.2432C>A
n.2756C>A
n.2399C>A
19g.11129545C=CA2322780272LDLRc.2680C= (p.Leu894=)
c.*491C= (n.*491C=)
c.2302C= (p.Leu768=)
c.2422C= (p.Leu808=)
c.2676C=
c.1918C= (p.Leu640=)
c.2299C= (p.Leu767=)
c.1888C= (p.Leu630=)
c.2484C= (p.Ser828=)
n.108+1891C=
c.2344C= (p.Leu782=)
c.2041C= (p.Leu681=)
n.2432C=
n.2756C=
n.2399C=
19g.11129545C>GCA404098598LDLRc.2680C>G (p.Leu894Val)
c.*491C>G (n.*491C>G)
c.2302C>G (p.Leu768Val)
c.2422C>G (p.Leu808Val)
c.2676C>G
c.1918C>G (p.Leu640Val)
c.2299C>G (p.Leu767Val)
c.1888C>G (p.Leu630Val)
c.2484C>G (p.Ser828=)
n.108+1891C>G
c.2344C>G (p.Leu782Val)
c.2041C>G (p.Leu681Val)
n.2432C>G
n.2756C>G
n.2399C>G
 ClinVar dbSNP
19g.11129545C>TCA404098599LDLRc.2680C>T (p.Leu894Phe)
c.*491C>T (n.*491C>T)
c.2302C>T (p.Leu768Phe)
c.2422C>T (p.Leu808Phe)
c.2676C>T
c.1918C>T (p.Leu640Phe)
c.2299C>T (p.Leu767Phe)
c.1888C>T (p.Leu630Phe)
c.2484C>T (p.Ser828=)
n.108+1891C>T
c.2344C>T (p.Leu782Phe)
c.2041C>T (p.Leu681Phe)
n.2432C>T
n.2756C>T
n.2399C>T
19g.11129546T>ACA404098603LDLRc.2681T>A (p.Leu894His)
c.*492T>A (n.*492T>A)
c.2303T>A (p.Leu768His)
c.2423T>A (p.Leu808His)
c.2677T>A
c.1919T>A (p.Leu640His)
c.2300T>A (p.Leu767His)
c.1889T>A (p.Leu630His)
c.2485T>A (p.Phe829Ile)
n.108+1892T>A
c.2345T>A (p.Leu782His)
c.2042T>A (p.Leu681His)
n.2433T>A
n.2757T>A
n.2400T>A
 COSMIC
19g.11129546T>CCA404098615LDLRc.2681T>C (p.Leu894Pro)
c.*492T>C (n.*492T>C)
c.2303T>C (p.Leu768Pro)
c.2423T>C (p.Leu808Pro)
c.2677T>C
c.1919T>C (p.Leu640Pro)
c.2300T>C (p.Leu767Pro)
c.1889T>C (p.Leu630Pro)
c.2485T>C (p.Phe829Leu)
n.108+1892T>C
c.2345T>C (p.Leu782Pro)
c.2042T>C (p.Leu681Pro)
n.2433T>C
n.2757T>C
n.2400T>C
 gnomAD v4
19g.11129546T>GCA404098617LDLRc.2681T>G (p.Leu894Arg)
c.*492T>G (n.*492T>G)
c.2303T>G (p.Leu768Arg)
c.2423T>G (p.Leu808Arg)
c.2677T>G
c.1919T>G (p.Leu640Arg)
c.2300T>G (p.Leu767Arg)
c.1889T>G (p.Leu630Arg)
c.2485T>G (p.Phe829Val)
n.108+1892T>G
c.2345T>G (p.Leu782Arg)
c.2042T>G (p.Leu681Arg)
n.2433T>G
n.2757T>G
n.2400T>G
 gnomAD v4
19g.11129547T>ACA404098631LDLRc.2682T>A (p.Leu894=)
c.*493T>A (n.*493T>A)
c.2304T>A (p.Leu768=)
c.2424T>A (p.Leu808=)
c.2678T>A
c.1920T>A (p.Leu640=)
c.2301T>A (p.Leu767=)
c.1890T>A (p.Leu630=)
c.2486T>A (p.Phe829Tyr)
n.108+1893T>A
c.2346T>A (p.Leu782=)
c.2043T>A (p.Leu681=)
n.2434T>A
n.2758T>A
n.2401T>A
19g.11129547T>CCA404098629LDLRc.2682T>C (p.Leu894=)
c.*493T>C (n.*493T>C)
c.2304T>C (p.Leu768=)
c.2424T>C (p.Leu808=)
c.2678T>C
c.1920T>C (p.Leu640=)
c.2301T>C (p.Leu767=)
c.1890T>C (p.Leu630=)
c.2486T>C (p.Phe829Ser)
n.108+1893T>C
c.2346T>C (p.Leu782=)
c.2043T>C (p.Leu681=)
n.2434T>C
n.2758T>C
n.2401T>C
 dbSNP
19g.11129547T>GCA404098622LDLRc.2682T>G (p.Leu894=)
c.*493T>G (n.*493T>G)
c.2304T>G (p.Leu768=)
c.2424T>G (p.Leu808=)
c.2678T>G
c.1920T>G (p.Leu640=)
c.2301T>G (p.Leu767=)
c.1890T>G (p.Leu630=)
c.2486T>G (p.Phe829Cys)
n.108+1893T>G
c.2346T>G (p.Leu782=)
c.2043T>G (p.Leu681=)
n.2434T>G
n.2758T>G
n.2401T>G
19g.11129548C>ACA404098637LDLRc.2683C>A (p.Leu895Ile)
c.*494C>A (n.*494C>A)
c.2305C>A (p.Leu769Ile)
c.2425C>A (p.Leu809Ile)
c.2679C>A
c.1921C>A (p.Leu641Ile)
c.2302C>A (p.Leu768Ile)
c.1891C>A (p.Leu631Ile)
c.2487C>A (p.Phe829Leu)
n.108+1894C>A
c.2347C>A (p.Leu783Ile)
c.2044C>A (p.Leu682Ile)
n.2435C>A
n.2759C>A
n.2402C>A
 gnomAD v4
19g.11129548C>GCA404098633LDLRc.2683C>G (p.Leu895Val)
c.*494C>G (n.*494C>G)
c.2305C>G (p.Leu769Val)
c.2425C>G (p.Leu809Val)
c.2679C>G
c.1921C>G (p.Leu641Val)
c.2302C>G (p.Leu768Val)
c.1891C>G (p.Leu631Val)
c.2487C>G (p.Phe829Leu)
n.108+1894C>G
c.2347C>G (p.Leu783Val)
c.2044C>G (p.Leu682Val)
n.2435C>G
n.2759C>G
n.2402C>G
19g.11129548C>TCA505743516LDLRc.2683C>T (p.Leu895=)
c.*494C>T (n.*494C>T)
c.2305C>T (p.Leu769=)
c.2425C>T (p.Leu809=)
c.2679C>T
c.1921C>T (p.Leu641=)
c.2302C>T (p.Leu768=)
c.1891C>T (p.Leu631=)
c.2487C>T (p.Phe829=)
n.108+1894C>T
c.2347C>T (p.Leu783=)
c.2044C>T (p.Leu682=)
n.2435C>T
n.2759C>T
n.2402C>T
 ClinVar dbSNP
19g.11129549T>ACA404098640LDLRc.2684T>A (p.Leu895Gln)
c.*495T>A (n.*495T>A)
c.2306T>A (p.Leu769Gln)
c.2426T>A (p.Leu809Gln)
c.2680T>A
c.1922T>A (p.Leu641Gln)
c.2303T>A (p.Leu768Gln)
c.1892T>A (p.Leu631Gln)
c.2488T>A (p.Tyr830Asn)
n.108+1895T>A
c.2348T>A (p.Leu783Gln)
c.2045T>A (p.Leu682Gln)
n.2436T>A
n.2760T>A
n.2403T>A
19g.11129549T>CCA404098642LDLRc.2684T>C (p.Leu895Pro)
c.*495T>C (n.*495T>C)
c.2306T>C (p.Leu769Pro)
c.2426T>C (p.Leu809Pro)
c.2680T>C
c.1922T>C (p.Leu641Pro)
c.2303T>C (p.Leu768Pro)
c.1892T>C (p.Leu631Pro)
c.2488T>C (p.Tyr830His)
n.108+1895T>C
c.2348T>C (p.Leu783Pro)
c.2045T>C (p.Leu682Pro)
n.2436T>C
n.2760T>C
n.2403T>C
 dbSNP
19g.11129549T>GCA404098644LDLRc.2684T>G (p.Leu895Arg)
c.*495T>G (n.*495T>G)
c.2306T>G (p.Leu769Arg)
c.2426T>G (p.Leu809Arg)
c.2680T>G
c.1922T>G (p.Leu641Arg)
c.2303T>G (p.Leu768Arg)
c.1892T>G (p.Leu631Arg)
c.2488T>G (p.Tyr830Asp)
n.108+1895T>G
c.2348T>G (p.Leu783Arg)
c.2045T>G (p.Leu682Arg)
n.2436T>G
n.2760T>G
n.2403T>G
19g.11129549T=CA2322780273LDLRc.2684T= (p.Leu895=)
c.*495T= (n.*495T=)
c.2306T= (p.Leu769=)
c.2426T= (p.Leu809=)
c.2680T=
c.1922T= (p.Leu641=)
c.2303T= (p.Leu768=)
c.1892T= (p.Leu631=)
c.2488T= (p.Tyr830=)
n.108+1895T=
c.2348T= (p.Leu783=)
c.2045T= (p.Leu682=)
n.2436T=
n.2760T=
n.2403T=
19g.11129550A=CA2322780274LDLRc.2685A= (p.Leu895=)
c.*496A= (n.*496A=)
c.2307A= (p.Leu769=)
c.2427A= (p.Leu809=)
c.2681A=
c.1923A= (p.Leu641=)
c.2304A= (p.Leu768=)
c.1893A= (p.Leu631=)
c.2489A= (p.Tyr830=)
n.108+1896A=
c.2349A= (p.Leu783=)
c.2046A= (p.Leu682=)
n.2437A=
n.2761A=
n.2404A=
19g.11129550A>CCA404098647LDLRc.2685A>C (p.Leu895=)
c.*496A>C (n.*496A>C)
c.2307A>C (p.Leu769=)
c.2427A>C (p.Leu809=)
c.2681A>C
c.1923A>C (p.Leu641=)
c.2304A>C (p.Leu768=)
c.1893A>C (p.Leu631=)
c.2489A>C (p.Tyr830Ser)
n.108+1896A>C
c.2349A>C (p.Leu783=)
c.2046A>C (p.Leu682=)
n.2437A>C
n.2761A>C
n.2404A>C
19g.11129550A>GCA040756LDLRc.2685A>G (p.Leu895=)
c.*496A>G (n.*496A>G)
c.2307A>G (p.Leu769=)
c.2427A>G (p.Leu809=)
c.2681A>G
c.1923A>G (p.Leu641=)
c.2304A>G (p.Leu768=)
c.1893A>G (p.Leu631=)
c.2489A>G (p.Tyr830Cys)
n.108+1896A>G
c.2349A>G (p.Leu783=)
c.2046A>G (p.Leu682=)
n.2437A>G
n.2761A>G
n.2404A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11129550A>TCA404098660LDLRc.2685A>T (p.Leu895=)
c.*496A>T (n.*496A>T)
c.2307A>T (p.Leu769=)
c.2427A>T (p.Leu809=)
c.2681A>T
c.1923A>T (p.Leu641=)
c.2304A>T (p.Leu768=)
c.1893A>T (p.Leu631=)
c.2489A>T (p.Tyr830Phe)
n.108+1896A>T
c.2349A>T (p.Leu783=)
c.2046A>T (p.Leu682=)
n.2437A>T
n.2761A>T
n.2404A>T
19g.11129551T>ACA404098663LDLRc.2686T>A (p.Trp896Arg)
c.*497T>A (n.*497T>A)
c.2308T>A (p.Trp770Arg)
c.2428T>A (p.Trp810Arg)
c.2682T>A
c.1924T>A (p.Trp642Arg)
c.2305T>A (p.Trp769Arg)
c.1894T>A (p.Trp632Arg)
c.2490T>A (p.Tyr830Ter)
n.108+1897T>A
c.2350T>A (p.Trp784Arg)
c.2047T>A (p.Trp683Arg)
n.2438T>A
n.2762T>A
n.2405T>A
19g.11129551T>CCA404098664LDLRc.2686T>C (p.Trp896Arg)
c.*497T>C (n.*497T>C)
c.2308T>C (p.Trp770Arg)
c.2428T>C (p.Trp810Arg)
c.2682T>C
c.1924T>C (p.Trp642Arg)
c.2305T>C (p.Trp769Arg)
c.1894T>C (p.Trp632Arg)
c.2490T>C (p.Tyr830=)
n.108+1897T>C
c.2350T>C (p.Trp784Arg)
c.2047T>C (p.Trp683Arg)
n.2438T>C
n.2762T>C
n.2405T>C
19g.11129551T>GCA404098665LDLRc.2686T>G (p.Trp896Gly)
c.*497T>G (n.*497T>G)
c.2308T>G (p.Trp770Gly)
c.2428T>G (p.Trp810Gly)
c.2682T>G
c.1924T>G (p.Trp642Gly)
c.2305T>G (p.Trp769Gly)
c.1894T>G (p.Trp632Gly)
c.2490T>G (p.Tyr830Ter)
n.108+1897T>G
c.2350T>G (p.Trp784Gly)
c.2047T>G (p.Trp683Gly)
n.2438T>G
n.2762T>G
n.2405T>G
19g.11129552G>ACA404098667LDLRc.2687G>A (p.Trp896Ter)
c.*498G>A (n.*498G>A)
c.2309G>A (p.Trp770Ter)
c.2429G>A (p.Trp810Ter)
c.2683G>A
c.1925G>A (p.Trp642Ter)
c.2306G>A (p.Trp769Ter)
c.1895G>A (p.Trp632Ter)
c.2491G>A (p.Gly831Arg)
n.108+1898G>A
c.2351G>A (p.Trp784Ter)
c.2048G>A (p.Trp683Ter)
n.2439G>A
n.2763G>A
n.2406G>A
19g.11129552G>CCA404098671LDLRc.2687G>C (p.Trp896Ser)
c.*498G>C (n.*498G>C)
c.2309G>C (p.Trp770Ser)
c.2429G>C (p.Trp810Ser)
c.2683G>C
c.1925G>C (p.Trp642Ser)
c.2306G>C (p.Trp769Ser)
c.1895G>C (p.Trp632Ser)
c.2491G>C (p.Gly831Arg)
n.108+1898G>C
c.2351G>C (p.Trp784Ser)
c.2048G>C (p.Trp683Ser)
n.2439G>C
n.2763G>C
n.2406G>C
19g.11129552G>TCA404098673LDLRc.2687G>T (p.Trp896Leu)
c.*498G>T (n.*498G>T)
c.2309G>T (p.Trp770Leu)
c.2429G>T (p.Trp810Leu)
c.2683G>T
c.1925G>T (p.Trp642Leu)
c.2306G>T (p.Trp769Leu)
c.1895G>T (p.Trp632Leu)
c.2491G>T (p.Gly831Ter)
n.108+1898G>T
c.2351G>T (p.Trp784Leu)
c.2048G>T (p.Trp683Leu)
n.2439G>T
n.2763G>T
n.2406G>T
19g.11129552_11129553insCAACTCCATTTCCCGGGTTCAAGTCA2582476512LDLRc.2687_2688insCAACTCCATTTCCCGGGTTCAAGT (p.Trp896delinsCysAsnSerIleSerArgValGlnVal)
c.*498_*499insCAACTCCATTTCCCGGGTTCAAGT (n.*498_*499insCAACTCCATTTCCCGGGTTCAAGT)
c.2309_2310insCAACTCCATTTCCCGGGTTCAAGT (p.Trp770delinsCysAsnSerIleSerArgValGlnVal)
c.2429_2430insCAACTCCATTTCCCGGGTTCAAGT (p.Trp810delinsCysAsnSerIleSerArgValGlnVal)
c.2683_2684insCAACTCCATTTCCCGGGTTCAAGT
c.1925_1926insCAACTCCATTTCCCGGGTTCAAGT (p.Trp642delinsCysAsnSerIleSerArgValGlnVal)
c.2306_2307insCAACTCCATTTCCCGGGTTCAAGT (p.Trp769delinsCysAsnSerIleSerArgValGlnVal)
c.1895_1896insCAACTCCATTTCCCGGGTTCAAGT (p.Trp632delinsCysAsnSerIleSerArgValGlnVal)
c.2491_2492insCAACTCCATTTCCCGGGTTCAAGT (p.Gly831AlafsTer9)
n.108+1898_108+1899insCAACTCCATTTCCCGGGTTCAAGT
c.2351_2352insCAACTCCATTTCCCGGGTTCAAGT (p.Trp784delinsCysAsnSerIleSerArgValGlnVal)
c.2048_2049insCAACTCCATTTCCCGGGTTCAAGT (p.Trp683delinsCysAsnSerIleSerArgValGlnVal)
n.2439_2440insCAACTCCATTTCCCGGGTTCAAGT
n.2763_2764insCAACTCCATTTCCCGGGTTCAAGT
n.2406_2407insCAACTCCATTTCCCGGGTTCAAGT
 gnomAD v4
19g.11129553G>ACA10585864LDLRc.2688G>A (p.Trp896Ter)
c.*499G>A (n.*499G>A)
c.2310G>A (p.Trp770Ter)
c.2430G>A (p.Trp810Ter)
c.2684G>A
c.1926G>A (p.Trp642Ter)
c.2307G>A (p.Trp769Ter)
c.1896G>A (p.Trp632Ter)
c.2492G>A (p.Gly831Glu)
n.108+1899G>A
c.2352G>A (p.Trp784Ter)
c.2049G>A (p.Trp683Ter)
n.2440G>A
n.2764G>A
n.2407G>A
 ClinVar dbSNP
19g.11129553G>CCA404098675LDLRc.2688G>C (p.Trp896Cys)
c.*499G>C (n.*499G>C)
c.2310G>C (p.Trp770Cys)
c.2430G>C (p.Trp810Cys)
c.2684G>C
c.1926G>C (p.Trp642Cys)
c.2307G>C (p.Trp769Cys)
c.1896G>C (p.Trp632Cys)
c.2492G>C (p.Gly831Ala)
n.108+1899G>C
c.2352G>C (p.Trp784Cys)
c.2049G>C (p.Trp683Cys)
n.2440G>C
n.2764G>C
n.2407G>C
 ClinVar gnomAD v4
19g.11129553G=CA2322780275LDLRc.2688G= (p.Trp896=)
c.*499G= (n.*499G=)
c.2310G= (p.Trp770=)
c.2430G= (p.Trp810=)
c.2684G=
c.1926G= (p.Trp642=)
c.2307G= (p.Trp769=)
c.1896G= (p.Trp632=)
c.2492G= (p.Gly831=)
n.108+1899G=
c.2352G= (p.Trp784=)
c.2049G= (p.Trp683=)
n.2440G=
n.2764G=
n.2407G=
19g.11129553G>TCA404098681LDLRc.2688G>T (p.Trp896Cys)
c.*499G>T (n.*499G>T)
c.2310G>T (p.Trp770Cys)
c.2430G>T (p.Trp810Cys)
c.2684G>T
c.1926G>T (p.Trp642Cys)
c.2307G>T (p.Trp769Cys)
c.1896G>T (p.Trp632Cys)
c.2492G>T (p.Gly831Val)
n.108+1899G>T
c.2352G>T (p.Trp784Cys)
c.2049G>T (p.Trp683Cys)
n.2440G>T
n.2764G>T
n.2407G>T
19g.11129554A=CA2322780276LDLRc.2689A= (p.Lys897=)
c.*500A= (n.*500A=)
c.2311A= (p.Lys771=)
c.2431A= (p.Lys811=)
c.2685A=
c.1927A= (p.Lys643=)
c.2308A= (p.Lys770=)
c.1897A= (p.Lys633=)
c.2493A= (p.Gly831=)
n.108+1900A=
c.2353A= (p.Lys785=)
c.2050A= (p.Lys684=)
n.2441A=
n.2765A=
n.2408A=
19g.11129554A>CCA404098689LDLRc.2689A>C (p.Lys897Gln)
c.*500A>C (n.*500A>C)
c.2311A>C (p.Lys771Gln)
c.2431A>C (p.Lys811Gln)
c.2685A>C
c.1927A>C (p.Lys643Gln)
c.2308A>C (p.Lys770Gln)
c.1897A>C (p.Lys633Gln)
c.2493A>C (p.Gly831=)
n.108+1900A>C
c.2353A>C (p.Lys785Gln)
c.2050A>C (p.Lys684Gln)
n.2441A>C
n.2765A>C
n.2408A>C
19g.11129554A>GCA404098692LDLRc.2689A>G (p.Lys897Glu)
c.*500A>G (n.*500A>G)
c.2311A>G (p.Lys771Glu)
c.2431A>G (p.Lys811Glu)
c.2685A>G
c.1927A>G (p.Lys643Glu)
c.2308A>G (p.Lys770Glu)
c.1897A>G (p.Lys633Glu)
c.2493A>G (p.Gly831=)
n.108+1900A>G
c.2353A>G (p.Lys785Glu)
c.2050A>G (p.Lys684Glu)
n.2441A>G
n.2765A>G
n.2408A>G
19g.11129554A>TCA10585865LDLRc.2689A>T (p.Lys897Ter)
c.*500A>T (n.*500A>T)
c.2311A>T (p.Lys771Ter)
c.2431A>T (p.Lys811Ter)
c.2685A>T
c.1927A>T (p.Lys643Ter)
c.2308A>T (p.Lys770Ter)
c.1897A>T (p.Lys633Ter)
c.2493A>T (p.Gly831=)
n.108+1900A>T
c.2353A>T (p.Lys785Ter)
c.2050A>T (p.Lys684Ter)
n.2441A>T
n.2765A>T
n.2408A>T
 ClinVar dbSNP gnomAD v4
19g.11129554_11129555insTTCTCCTCCCTCAGCCTCCCAAGTCA2582476513LDLRc.2689_2690insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys897IlefsTer9)
c.*500_*501insTTCTCCTCCCTCAGCCTCCCAAGT (n.*500_*501insTTCTCCTCCCTCAGCCTCCCAAGT)
c.2311_2312insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys771IlefsTer9)
c.2431_2432insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys811IlefsTer9)
c.2685_2686insTTCTCCTCCCTCAGCCTCCCAAGT
c.1927_1928insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys643IlefsTer9)
c.2308_2309insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys770IlefsTer9)
c.1897_1898insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys633IlefsTer9)
c.2493_2494insTTCTCCTCCCTCAGCCTCCCAAGT (p.Gly831_Arg832insPheSerSerLeuSerLeuProSer)
n.108+1900_108+1901insTTCTCCTCCCTCAGCCTCCCAAGT
c.2353_2354insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys785IlefsTer9)
c.2050_2051insTTCTCCTCCCTCAGCCTCCCAAGT (p.Lys684IlefsTer9)
n.2441_2442insTTCTCCTCCCTCAGCCTCCCAAGT
n.2765_2766insTTCTCCTCCCTCAGCCTCCCAAGT
n.2408_2409insTTCTCCTCCCTCAGCCTCCCAAGT
 gnomAD v4
19g.11129555A>CCA404098698LDLRc.2690A>C (p.Lys897Thr)
c.*501A>C (n.*501A>C)
c.2312A>C (p.Lys771Thr)
c.2432A>C (p.Lys811Thr)
c.2686A>C
c.1928A>C (p.Lys643Thr)
c.2309A>C (p.Lys770Thr)
c.1898A>C (p.Lys633Thr)
c.2494A>C (p.Arg832=)
n.108+1901A>C
c.2354A>C (p.Lys785Thr)
c.2051A>C (p.Lys684Thr)
n.2442A>C
n.2766A>C
n.2409A>C
19g.11129555A>GCA404098700LDLRc.2690A>G (p.Lys897Arg)
c.*501A>G (n.*501A>G)
c.2312A>G (p.Lys771Arg)
c.2432A>G (p.Lys811Arg)
c.2686A>G
c.1928A>G (p.Lys643Arg)
c.2309A>G (p.Lys770Arg)
c.1898A>G (p.Lys633Arg)
c.2494A>G (p.Arg832Gly)
n.108+1901A>G
c.2354A>G (p.Lys785Arg)
c.2051A>G (p.Lys684Arg)
n.2442A>G
n.2766A>G
n.2409A>G
 ClinVar
19g.11129555A>TCA404098705LDLRc.2690A>T (p.Lys897Met)
c.*501A>T (n.*501A>T)
c.2312A>T (p.Lys771Met)
c.2432A>T (p.Lys811Met)
c.2686A>T
c.1928A>T (p.Lys643Met)
c.2309A>T (p.Lys770Met)
c.1898A>T (p.Lys633Met)
c.2494A>T (p.Arg832Ter)
n.108+1901A>T
c.2354A>T (p.Lys785Met)
c.2051A>T (p.Lys684Met)
n.2442A>T
n.2766A>T
n.2409A>T
19g.11129556G>ACA404098711LDLRc.2691G>A (p.Lys897=)
c.*502G>A (n.*502G>A)
c.2313G>A (p.Lys771=)
c.2433G>A (p.Lys811=)
c.2687G>A
c.1929G>A (p.Lys643=)
c.2310G>A (p.Lys770=)
c.1899G>A (p.Lys633=)
c.2495G>A (p.Arg832Lys)
n.108+1902G>A
c.2355G>A (p.Lys785=)
c.2052G>A (p.Lys684=)
n.2443G>A
n.2767G>A
n.2410G>A
 gnomAD v4
19g.11129556G>CCA404098714LDLRc.2691G>C (p.Lys897Asn)
c.*502G>C (n.*502G>C)
c.2313G>C (p.Lys771Asn)
c.2433G>C (p.Lys811Asn)
c.2687G>C
c.1929G>C (p.Lys643Asn)
c.2310G>C (p.Lys770Asn)
c.1899G>C (p.Lys633Asn)
c.2495G>C (p.Arg832Thr)
n.108+1902G>C
c.2355G>C (p.Lys785Asn)
c.2052G>C (p.Lys684Asn)
n.2443G>C
n.2767G>C
n.2410G>C
 gnomAD v4
19g.11129556G>TCA404098716LDLRc.2691G>T (p.Lys897Asn)
c.*502G>T (n.*502G>T)
c.2313G>T (p.Lys771Asn)
c.2433G>T (p.Lys811Asn)
c.2687G>T
c.1929G>T (p.Lys643Asn)
c.2310G>T (p.Lys770Asn)
c.1899G>T (p.Lys633Asn)
c.2495G>T (p.Arg832Ile)
n.108+1902G>T
c.2355G>T (p.Lys785Asn)
c.2052G>T (p.Lys684Asn)
n.2443G>T
n.2767G>T
n.2410G>T
19g.11129557A>CCA404098720LDLRc.2692A>C (p.Asn898His)
c.*503A>C (n.*503A>C)
c.2314A>C (p.Asn772His)
c.2434A>C (p.Asn812His)
c.2688A>C
c.1930A>C (p.Asn644His)
c.2311A>C (p.Asn771His)
c.1900A>C (p.Asn634His)
c.2496A>C (p.Arg832Ser)
n.108+1903A>C
c.2356A>C (p.Asn786His)
c.2053A>C (p.Asn685His)
n.2444A>C
n.2768A>C
n.2411A>C
19g.11129557A>GCA404098721LDLRc.2692A>G (p.Asn898Asp)
c.*503A>G (n.*503A>G)
c.2314A>G (p.Asn772Asp)
c.2434A>G (p.Asn812Asp)
c.2688A>G
c.1930A>G (p.Asn644Asp)
c.2311A>G (p.Asn771Asp)
c.1900A>G (p.Asn634Asp)
c.2496A>G (p.Arg832=)
n.108+1903A>G
c.2356A>G (p.Asn786Asp)
c.2053A>G (p.Asn685Asp)
n.2444A>G
n.2768A>G
n.2411A>G
19g.11129557A>TCA404098722LDLRc.2692A>T (p.Asn898Tyr)
c.*503A>T (n.*503A>T)
c.2314A>T (p.Asn772Tyr)
c.2434A>T (p.Asn812Tyr)
c.2688A>T
c.1930A>T (p.Asn644Tyr)
c.2311A>T (p.Asn771Tyr)
c.1900A>T (p.Asn634Tyr)
c.2496A>T (p.Arg832Ser)
n.108+1903A>T
c.2356A>T (p.Asn786Tyr)
c.2053A>T (p.Asn685Tyr)
n.2444A>T
n.2768A>T
n.2411A>T
19g.11129558A>CCA404098727LDLRc.2693A>C (p.Asn898Thr)
c.*504A>C (n.*504A>C)
c.2315A>C (p.Asn772Thr)
c.2435A>C (p.Asn812Thr)
c.2689A>C
c.1931A>C (p.Asn644Thr)
c.2312A>C (p.Asn771Thr)
c.1901A>C (p.Asn634Thr)
c.2497A>C (p.Thr833Pro)
n.108+1904A>C
c.2357A>C (p.Asn786Thr)
c.2054A>C (p.Asn685Thr)
n.2445A>C
n.2769A>C
n.2412A>C
19g.11129558A>GCA404098730LDLRc.2693A>G (p.Asn898Ser)
c.*504A>G (n.*504A>G)
c.2315A>G (p.Asn772Ser)
c.2435A>G (p.Asn812Ser)
c.2689A>G
c.1931A>G (p.Asn644Ser)
c.2312A>G (p.Asn771Ser)
c.1901A>G (p.Asn634Ser)
c.2497A>G (p.Thr833Ala)
n.108+1904A>G
c.2357A>G (p.Asn786Ser)
c.2054A>G (p.Asn685Ser)
n.2445A>G
n.2769A>G
n.2412A>G
19g.11129558A>TCA404098725LDLRc.2693A>T (p.Asn898Ile)
c.*504A>T (n.*504A>T)
c.2315A>T (p.Asn772Ile)
c.2435A>T (p.Asn812Ile)
c.2689A>T
c.1931A>T (p.Asn644Ile)
c.2312A>T (p.Asn771Ile)
c.1901A>T (p.Asn634Ile)
c.2497A>T (p.Thr833Ser)
n.108+1904A>T
c.2357A>T (p.Asn786Ile)
c.2054A>T (p.Asn685Ile)
n.2445A>T
n.2769A>T
n.2412A>T
19g.11129559C>ACA404098736LDLRc.2694C>A (p.Asn898Lys)
c.*505C>A (n.*505C>A)
c.2316C>A (p.Asn772Lys)
c.2436C>A (p.Asn812Lys)
c.2690C>A
c.1932C>A (p.Asn644Lys)
c.2313C>A (p.Asn771Lys)
c.1902C>A (p.Asn634Lys)
c.2498C>A (p.Thr833Asn)
n.108+1905C>A
c.2358C>A (p.Asn786Lys)
c.2055C>A (p.Asn685Lys)
n.2446C>A
n.2770C>A
n.2413C>A
19g.11129559C>GCA404098740LDLRc.2694C>G (p.Asn898Lys)
c.*505C>G (n.*505C>G)
c.2316C>G (p.Asn772Lys)
c.2436C>G (p.Asn812Lys)
c.2690C>G
c.1932C>G (p.Asn644Lys)
c.2313C>G (p.Asn771Lys)
c.1902C>G (p.Asn634Lys)
c.2498C>G (p.Thr833Ser)
n.108+1905C>G
c.2358C>G (p.Asn786Lys)
c.2055C>G (p.Asn685Lys)
n.2446C>G
n.2770C>G
n.2413C>G
19g.11129559C>TCA404098745LDLRc.2694C>T (p.Asn898=)
c.*505C>T (n.*505C>T)
c.2316C>T (p.Asn772=)
c.2436C>T (p.Asn812=)
c.2690C>T
c.1932C>T (p.Asn644=)
c.2313C>T (p.Asn771=)
c.1902C>T (p.Asn634=)
c.2498C>T (p.Thr833Ile)
n.108+1905C>T
c.2358C>T (p.Asn786=)
c.2055C>T (p.Asn685=)
n.2446C>T
n.2770C>T
n.2413C>T
19g.11129560T>ACA404098749LDLRc.2695T>A (p.Trp899Arg)
c.*506T>A (n.*506T>A)
c.2317T>A (p.Trp773Arg)
c.2437T>A (p.Trp813Arg)
c.2691T>A
c.1933T>A (p.Trp645Arg)
c.2314T>A (p.Trp772Arg)
c.1903T>A (p.Trp635Arg)
c.2499T>A (p.Thr833=)
n.108+1906T>A
c.2359T>A (p.Trp787Arg)
c.2056T>A (p.Trp686Arg)
n.2447T>A
n.2771T>A
n.2414T>A
19g.11129560T>CCA404098753LDLRc.2695T>C (p.Trp899Arg)
c.*506T>C (n.*506T>C)
c.2317T>C (p.Trp773Arg)
c.2437T>C (p.Trp813Arg)
c.2691T>C
c.1933T>C (p.Trp645Arg)
c.2314T>C (p.Trp772Arg)
c.1903T>C (p.Trp635Arg)
c.2499T>C (p.Thr833=)
n.108+1906T>C
c.2359T>C (p.Trp787Arg)
c.2056T>C (p.Trp686Arg)
n.2447T>C
n.2771T>C
n.2414T>C
19g.11129560T>GCA404098759LDLRc.2695T>G (p.Trp899Gly)
c.*506T>G (n.*506T>G)
c.2317T>G (p.Trp773Gly)
c.2437T>G (p.Trp813Gly)
c.2691T>G
c.1933T>G (p.Trp645Gly)
c.2314T>G (p.Trp772Gly)
c.1903T>G (p.Trp635Gly)
c.2499T>G (p.Thr833=)
n.108+1906T>G
c.2359T>G (p.Trp787Gly)
c.2056T>G (p.Trp686Gly)
n.2447T>G
n.2771T>G
n.2414T>G
19g.11129561G>ACA10585866LDLRc.2696G>A (p.Trp899Ter)
c.*507G>A (n.*507G>A)
c.2318G>A (p.Trp773Ter)
c.2438G>A (p.Trp813Ter)
c.2692G>A
c.1934G>A (p.Trp645Ter)
c.2315G>A (p.Trp772Ter)
c.1904G>A (p.Trp635Ter)
c.2500G>A (p.Gly834Ser)
n.108+1907G>A
c.2360G>A (p.Trp787Ter)
c.2057G>A (p.Trp686Ter)
n.2448G>A
n.2772G>A
n.2415G>A
 ClinVar dbSNP gnomAD v4
19g.11129561G>CCA404098762LDLRc.2696G>C (p.Trp899Ser)
c.*507G>C (n.*507G>C)
c.2318G>C (p.Trp773Ser)
c.2438G>C (p.Trp813Ser)
c.2692G>C
c.1934G>C (p.Trp645Ser)
c.2315G>C (p.Trp772Ser)
c.1904G>C (p.Trp635Ser)
c.2500G>C (p.Gly834Arg)
n.108+1907G>C
c.2360G>C (p.Trp787Ser)
c.2057G>C (p.Trp686Ser)
n.2448G>C
n.2772G>C
n.2415G>C
19g.11129561G=CA2322780277LDLRc.2696G= (p.Trp899=)
c.*507G= (n.*507G=)
c.2318G= (p.Trp773=)
c.2438G= (p.Trp813=)
c.2692G=
c.1934G= (p.Trp645=)
c.2315G= (p.Trp772=)
c.1904G= (p.Trp635=)
c.2500G= (p.Gly834=)
n.108+1907G=
c.2360G= (p.Trp787=)
c.2057G= (p.Trp686=)
n.2448G=
n.2772G=
n.2415G=
19g.11129561G>TCA404098767LDLRc.2696G>T (p.Trp899Leu)
c.*507G>T (n.*507G>T)
c.2318G>T (p.Trp773Leu)
c.2438G>T (p.Trp813Leu)
c.2692G>T
c.1934G>T (p.Trp645Leu)
c.2315G>T (p.Trp772Leu)
c.1904G>T (p.Trp635Leu)
c.2500G>T (p.Gly834Cys)
n.108+1907G>T
c.2360G>T (p.Trp787Leu)
c.2057G>T (p.Trp686Leu)
n.2448G>T
n.2772G>T
n.2415G>T
19g.11129562G>ACA023668LDLRc.2697G>A (p.Trp899Ter)
c.*508G>A (n.*508G>A)
c.2319G>A (p.Trp773Ter)
c.2439G>A (p.Trp813Ter)
c.2693G>A
c.1935G>A (p.Trp645Ter)
c.2316G>A (p.Trp772Ter)
c.1905G>A (p.Trp635Ter)
c.2501G>A (p.Gly834Asp)
n.108+1908G>A
c.2361G>A (p.Trp787Ter)
c.2058G>A (p.Trp686Ter)
n.2449G>A
n.2773G>A
n.2416G>A
 ClinVar dbSNP
19g.11129562G>CCA404098779LDLRc.2697G>C (p.Trp899Cys)
c.*508G>C (n.*508G>C)
c.2319G>C (p.Trp773Cys)
c.2439G>C (p.Trp813Cys)
c.2693G>C
c.1935G>C (p.Trp645Cys)
c.2316G>C (p.Trp772Cys)
c.1905G>C (p.Trp635Cys)
c.2501G>C (p.Gly834Ala)
n.108+1908G>C
c.2361G>C (p.Trp787Cys)
c.2058G>C (p.Trp686Cys)
n.2449G>C
n.2773G>C
n.2416G>C
19g.11129562G=CA2322780278LDLRc.2697G= (p.Trp899=)
c.*508G= (n.*508G=)
c.2319G= (p.Trp773=)
c.2439G= (p.Trp813=)
c.2693G=
c.1935G= (p.Trp645=)
c.2316G= (p.Trp772=)
c.1905G= (p.Trp635=)
c.2501G= (p.Gly834=)
n.108+1908G=
c.2361G= (p.Trp787=)
c.2058G= (p.Trp686=)
n.2449G=
n.2773G=
n.2416G=
19g.11129562G>TCA404098780LDLRc.2697G>T (p.Trp899Cys)
c.*508G>T (n.*508G>T)
c.2319G>T (p.Trp773Cys)
c.2439G>T (p.Trp813Cys)
c.2693G>T
c.1935G>T (p.Trp645Cys)
c.2316G>T (p.Trp772Cys)
c.1905G>T (p.Trp635Cys)
c.2501G>T (p.Gly834Val)
n.108+1908G>T
c.2361G>T (p.Trp787Cys)
c.2058G>T (p.Trp686Cys)
n.2449G>T
n.2773G>T
n.2416G>T
19g.11129563C>ACA505743517LDLRc.2698C>A (p.Arg900=)
c.*509C>A (n.*509C>A)
c.2320C>A (p.Arg774=)
c.2440C>A (p.Arg814=)
c.2694C>A
c.1936C>A (p.Arg646=)
c.2317C>A (p.Arg773=)
c.1906C>A (p.Arg636=)
c.2502C>A (p.Gly834=)
n.108+1909C>A
c.2362C>A (p.Arg788=)
c.2059C>A (p.Arg687=)
n.2450C>A
n.2774C>A
n.2417C>A
 ClinVar dbSNP gnomAD v4
19g.11129563C=CA2322780279LDLRc.2698C= (p.Arg900=)
c.*509C= (n.*509C=)
c.2320C= (p.Arg774=)
c.2440C= (p.Arg814=)
c.2694C=
c.1936C= (p.Arg646=)
c.2317C= (p.Arg773=)
c.1906C= (p.Arg636=)
c.2502C= (p.Gly834=)
n.108+1909C=
c.2362C= (p.Arg788=)
c.2059C= (p.Arg687=)
n.2450C=
n.2774C=
n.2417C=
19g.11129563C>GCA404098784LDLRc.2698C>G (p.Arg900Gly)
c.*509C>G (n.*509C>G)
c.2320C>G (p.Arg774Gly)
c.2440C>G (p.Arg814Gly)
c.2694C>G
c.1936C>G (p.Arg646Gly)
c.2317C>G (p.Arg773Gly)
c.1906C>G (p.Arg636Gly)
c.2502C>G (p.Gly834=)
n.108+1909C>G
c.2362C>G (p.Arg788Gly)
c.2059C>G (p.Arg687Gly)
n.2450C>G
n.2774C>G
n.2417C>G
19g.11129563C>TCA040769LDLRc.2698C>T (p.Arg900Trp)
c.*509C>T (n.*509C>T)
c.2320C>T (p.Arg774Trp)
c.2440C>T (p.Arg814Trp)
c.2694C>T
c.1936C>T (p.Arg646Trp)
c.2317C>T (p.Arg773Trp)
c.1906C>T (p.Arg636Trp)
c.2502C>T (p.Gly834=)
n.108+1909C>T
c.2362C>T (p.Arg788Trp)
c.2059C>T (p.Arg687Trp)
n.2450C>T
n.2774C>T
n.2417C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11129564G>ACA023671LDLRc.2699G>A (p.Arg900Gln)
c.*510G>A (n.*510G>A)
c.2321G>A (p.Arg774Gln)
c.2441G>A (p.Arg814Gln)
c.2695G>A
c.1937G>A (p.Arg646Gln)
c.2318G>A (p.Arg773Gln)
c.1907G>A (p.Arg636Gln)
c.2503G>A (p.Gly835Ser)
n.108+1910G>A
c.2363G>A (p.Arg788Gln)
c.2060G>A (p.Arg687Gln)
n.2451G>A
n.2775G>A
n.2418G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11129564G>CCA404098787LDLRc.2699G>C (p.Arg900Pro)
c.*510G>C (n.*510G>C)
c.2321G>C (p.Arg774Pro)
c.2441G>C (p.Arg814Pro)
c.2695G>C
c.1937G>C (p.Arg646Pro)
c.2318G>C (p.Arg773Pro)
c.1907G>C (p.Arg636Pro)
c.2503G>C (p.Gly835Arg)
n.108+1910G>C
c.2363G>C (p.Arg788Pro)
c.2060G>C (p.Arg687Pro)
n.2451G>C
n.2775G>C
n.2418G>C
19g.11129564G=CA2322780280LDLRc.2699G= (p.Arg900=)
c.*510G= (n.*510G=)
c.2321G= (p.Arg774=)
c.2441G= (p.Arg814=)
c.2695G=
c.1937G= (p.Arg646=)
c.2318G= (p.Arg773=)
c.1907G= (p.Arg636=)
c.2503G= (p.Gly835=)
n.108+1910G=
c.2363G= (p.Arg788=)
c.2060G= (p.Arg687=)
n.2451G=
n.2775G=
n.2418G=
19g.11129564G>TCA404098797LDLRc.2699G>T (p.Arg900Leu)
c.*510G>T (n.*510G>T)
c.2321G>T (p.Arg774Leu)
c.2441G>T (p.Arg814Leu)
c.2695G>T
c.1937G>T (p.Arg646Leu)
c.2318G>T (p.Arg773Leu)
c.1907G>T (p.Arg636Leu)
c.2503G>T (p.Gly835Cys)
n.108+1910G>T
c.2363G>T (p.Arg788Leu)
c.2060G>T (p.Arg687Leu)
n.2451G>T
n.2775G>T
n.2418G>T
 gnomAD v4
19g.11129565delCA2499225332LDLRc.2700del (p.Lys902ArgfsTer?)
c.*511del (n.*511del)
c.2322del (p.Lys776ArgfsTer?)
c.2442del (p.Lys816ArgfsTer?)
c.2696del
c.1938del (p.Lys648ArgfsTer?)
c.2319del (p.Lys775ArgfsTer?)
c.1908del (p.Lys638ArgfsTer?)
c.2504del (p.Gly835AlafsTer2)
n.108+1911del
c.2364del (p.Lys790ArgfsTer?)
c.2061del (p.Lys689ArgfsTer?)
n.2452del
n.2776del
n.2419del
 ClinVar dbSNP
19g.11129565G>ACA305309104LDLRc.2700G>A (p.Arg900=)
c.*511G>A (n.*511G>A)
c.2322G>A (p.Arg774=)
c.2442G>A (p.Arg814=)
c.2696G>A
c.1938G>A (p.Arg646=)
c.2319G>A (p.Arg773=)
c.1908G>A (p.Arg636=)
c.2504G>A (p.Gly835Asp)
n.108+1911G>A
c.2364G>A (p.Arg788=)
c.2061G>A (p.Arg687=)
n.2452G>A
n.2776G>A
n.2419G>A
 dbSNP gnomAD v3 gnomAD v4
19g.11129565G>CCA404098808LDLRc.2700G>C (p.Arg900=)
c.*511G>C (n.*511G>C)
c.2322G>C (p.Arg774=)
c.2442G>C (p.Arg814=)
c.2696G>C
c.1938G>C (p.Arg646=)
c.2319G>C (p.Arg773=)
c.1908G>C (p.Arg636=)
c.2504G>C (p.Gly835Ala)
n.108+1911G>C
c.2364G>C (p.Arg788=)
c.2061G>C (p.Arg687=)
n.2452G>C
n.2776G>C
n.2419G>C
19g.11129565G=CA2322780281LDLRc.2700G= (p.Arg900=)
c.*511G= (n.*511G=)
c.2322G= (p.Arg774=)
c.2442G= (p.Arg814=)
c.2696G=
c.1938G= (p.Arg646=)
c.2319G= (p.Arg773=)
c.1908G= (p.Arg636=)
c.2504G= (p.Gly835=)
n.108+1911G=
c.2364G= (p.Arg788=)
c.2061G= (p.Arg687=)
n.2452G=
n.2776G=
n.2419G=
19g.11129565G>TCA404098811LDLRc.2700G>T (p.Arg900=)
c.*511G>T (n.*511G>T)
c.2322G>T (p.Arg774=)
c.2442G>T (p.Arg814=)
c.2696G>T
c.1938G>T (p.Arg646=)
c.2319G>T (p.Arg773=)
c.1908G>T (p.Arg636=)
c.2504G>T (p.Gly835Val)
n.108+1911G>T
c.2364G>T (p.Arg788=)
c.2061G>T (p.Arg687=)
n.2452G>T
n.2776G>T
n.2419G>T
19g.11129566C>ACA404098812LDLRc.2701C>A (p.Leu901Ile)
c.*512C>A (n.*512C>A)
c.2323C>A (p.Leu775Ile)
c.2443C>A (p.Leu815Ile)
c.2697C>A
c.1939C>A (p.Leu647Ile)
c.2320C>A (p.Leu774Ile)
c.1909C>A (p.Leu637Ile)
c.2505C>A (p.Gly835=)
n.108+1912C>A
c.2365C>A (p.Leu789Ile)
c.2062C>A (p.Leu688Ile)
n.2453C>A
n.2777C>A
n.2420C>A
 gnomAD v4
19g.11129566C>GCA404098813LDLRc.2701C>G (p.Leu901Val)
c.*512C>G (n.*512C>G)
c.2323C>G (p.Leu775Val)
c.2443C>G (p.Leu815Val)
c.2697C>G
c.1939C>G (p.Leu647Val)
c.2320C>G (p.Leu774Val)
c.1909C>G (p.Leu637Val)
c.2505C>G (p.Gly835=)
n.108+1912C>G
c.2365C>G (p.Leu789Val)
c.2062C>G (p.Leu688Val)
n.2453C>G
n.2777C>G
n.2420C>G
 dbSNP
19g.11129566C>TCA404098814LDLRc.2701C>T (p.Leu901Phe)
c.*512C>T (n.*512C>T)
c.2323C>T (p.Leu775Phe)
c.2443C>T (p.Leu815Phe)
c.2697C>T
c.1939C>T (p.Leu647Phe)
c.2320C>T (p.Leu774Phe)
c.1909C>T (p.Leu637Phe)
c.2505C>T (p.Gly835=)
n.108+1912C>T
c.2365C>T (p.Leu789Phe)
c.2062C>T (p.Leu688Phe)
n.2453C>T
n.2777C>T
n.2420C>T
19g.11129567T>ACA404098819LDLRc.2702T>A (p.Leu901His)
c.*513T>A (n.*513T>A)
c.2324T>A (p.Leu775His)
c.2444T>A (p.Leu815His)
c.2698T>A
c.1940T>A (p.Leu647His)
c.2321T>A (p.Leu774His)
c.1910T>A (p.Leu637His)
c.2506T>A (p.Leu836Ile)
n.108+1913T>A
c.2366T>A (p.Leu789His)
c.2063T>A (p.Leu688His)
n.2454T>A
n.2778T>A
n.2421T>A
 ClinVar dbSNP
19g.11129567T>CCA404098822LDLRc.2702T>C (p.Leu901Pro)
c.*513T>C (n.*513T>C)
c.2324T>C (p.Leu775Pro)
c.2444T>C (p.Leu815Pro)
c.2698T>C
c.1940T>C (p.Leu647Pro)
c.2321T>C (p.Leu774Pro)
c.1910T>C (p.Leu637Pro)
c.2506T>C (p.Leu836=)
n.108+1913T>C
c.2366T>C (p.Leu789Pro)
c.2063T>C (p.Leu688Pro)
n.2454T>C
n.2778T>C
n.2421T>C
19g.11129567T>GCA404098826LDLRc.2702T>G (p.Leu901Arg)
c.*513T>G (n.*513T>G)
c.2324T>G (p.Leu775Arg)
c.2444T>G (p.Leu815Arg)
c.2698T>G
c.1940T>G (p.Leu647Arg)
c.2321T>G (p.Leu774Arg)
c.1910T>G (p.Leu637Arg)
c.2506T>G (p.Leu836Val)
n.108+1913T>G
c.2366T>G (p.Leu789Arg)
c.2063T>G (p.Leu688Arg)
n.2454T>G
n.2778T>G
n.2421T>G
19g.11129567T=CA2322780282LDLRc.2702T= (p.Leu901=)
c.*513T= (n.*513T=)
c.2324T= (p.Leu775=)
c.2444T= (p.Leu815=)
c.2698T=
c.1940T= (p.Leu647=)
c.2321T= (p.Leu774=)
c.1910T= (p.Leu637=)
c.2506T= (p.Leu836=)
n.108+1913T=
c.2366T= (p.Leu789=)
c.2063T= (p.Leu688=)
n.2454T=
n.2778T=
n.2421T=
19g.11129568T>ACA404098830LDLRc.2703T>A (p.Leu901=)
c.*514T>A (n.*514T>A)
c.2325T>A (p.Leu775=)
c.2445T>A (p.Leu815=)
c.2699T>A
c.1941T>A (p.Leu647=)
c.2322T>A (p.Leu774=)
c.1911T>A (p.Leu637=)
c.2507T>A (p.Leu836Ter)
n.108+1914T>A
c.2367T>A (p.Leu789=)
c.2064T>A (p.Leu688=)
n.2455T>A
n.2779T>A
n.2422T>A
19g.11129568T>CCA404098833LDLRc.2703T>C (p.Leu901=)
c.*514T>C (n.*514T>C)
c.2325T>C (p.Leu775=)
c.2445T>C (p.Leu815=)
c.2699T>C
c.1941T>C (p.Leu647=)
c.2322T>C (p.Leu774=)
c.1911T>C (p.Leu637=)
c.2507T>C (p.Leu836Ser)
n.108+1914T>C
c.2367T>C (p.Leu789=)
c.2064T>C (p.Leu688=)
n.2455T>C
n.2779T>C
n.2422T>C
19g.11129568T>GCA404098837LDLRc.2703T>G (p.Leu901=)
c.*514T>G (n.*514T>G)
c.2325T>G (p.Leu775=)
c.2445T>G (p.Leu815=)
c.2699T>G
c.1941T>G (p.Leu647=)
c.2322T>G (p.Leu774=)
c.1911T>G (p.Leu637=)
c.2507T>G (p.Leu836Ter)
n.108+1914T>G
c.2367T>G (p.Leu789=)
c.2064T>G (p.Leu688=)
n.2455T>G
n.2779T>G
n.2422T>G
19g.11129568T=CA2322780283LDLRc.2703T= (p.Leu901=)
c.*514T= (n.*514T=)
c.2325T= (p.Leu775=)
c.2445T= (p.Leu815=)
c.2699T=
c.1941T= (p.Leu647=)
c.2322T= (p.Leu774=)
c.1911T= (p.Leu637=)
c.2507T= (p.Leu836=)
n.108+1914T=
c.2367T= (p.Leu789=)
c.2064T= (p.Leu688=)
n.2455T=
n.2779T=
n.2422T=
19g.11129569A=CA2322780284LDLRc.2704A= (p.Lys902=)
c.*515A= (n.*515A=)
c.2326A= (p.Lys776=)
c.2446A= (p.Lys816=)
c.2700A=
c.1942A= (p.Lys648=)
c.2323A= (p.Lys775=)
c.1912A= (p.Lys638=)
c.2508A= (p.Leu836=)
n.108+1915A=
c.2368A= (p.Lys790=)
c.2065A= (p.Lys689=)
n.2456A=
n.2780A=
n.2423A=
19g.11129569A>CCA404098844LDLRc.2704A>C (p.Lys902Gln)
c.*515A>C (n.*515A>C)
c.2326A>C (p.Lys776Gln)
c.2446A>C (p.Lys816Gln)
c.2700A>C
c.1942A>C (p.Lys648Gln)
c.2323A>C (p.Lys775Gln)
c.1912A>C (p.Lys638Gln)
c.2508A>C (p.Leu836Phe)
n.108+1915A>C
c.2368A>C (p.Lys790Gln)
c.2065A>C (p.Lys689Gln)
n.2456A>C
n.2780A>C
n.2423A>C
 ClinVar dbSNP
19g.11129569A>GCA404098854LDLRc.2704A>G (p.Lys902Glu)
c.*515A>G (n.*515A>G)
c.2326A>G (p.Lys776Glu)
c.2446A>G (p.Lys816Glu)
c.2700A>G
c.1942A>G (p.Lys648Glu)
c.2323A>G (p.Lys775Glu)
c.1912A>G (p.Lys638Glu)
c.2508A>G (p.Leu836=)
n.108+1915A>G
c.2368A>G (p.Lys790Glu)
c.2065A>G (p.Lys689Glu)
n.2456A>G
n.2780A>G
n.2423A>G
19g.11129569A>TCA10585867LDLRc.2704A>T (p.Lys902Ter)
c.*515A>T (n.*515A>T)
c.2326A>T (p.Lys776Ter)
c.2446A>T (p.Lys816Ter)
c.2700A>T
c.1942A>T (p.Lys648Ter)
c.2323A>T (p.Lys775Ter)
c.1912A>T (p.Lys638Ter)
c.2508A>T (p.Leu836Phe)
n.108+1915A>T
c.2368A>T (p.Lys790Ter)
c.2065A>T (p.Lys689Ter)
n.2456A>T
n.2780A>T
n.2423A>T
 ClinVar dbSNP
19g.11129570_11129573dupCA023673LDLRc.2705_2708dup (p.Asn903LysfsTer9)
c.*516_*519dup (n.*516_*519dup)
c.2327_2330dup (p.Asn777LysfsTer9)
c.2447_2450dup (p.Asn817LysfsTer9)
c.2701_2704dup
c.1943_1946dup (p.Asn649LysfsTer9)
c.2324_2327dup (p.Asn776LysfsTer9)
c.1913_1916dup (p.Asn639LysfsTer9)
c.2509_2512dup (p.Thr838LysfsTer?)
n.108+1916_108+1919dup
c.2369_2372dup (p.Asn791LysfsTer9)
c.2066_2069dup (p.Asn690LysfsTer9)
n.2457_2460dup
n.2781_2784dup
n.2424_2427dup
 ClinVar dbSNP
19g.11129585_11129586insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCATCA2499225333LDLRc.2720_2721insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile908GlyfsTer22)
c.*531_*532insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (n.*531_*532insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT)
c.2342_2343insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile782GlyfsTer22)
c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile822GlyfsTer22)
c.2716_2717insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT
c.1958_1959insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile654GlyfsTer22)
c.2339_2340insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile781GlyfsTer22)
c.1928_1929insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile644GlyfsTer22)
c.2524_2525insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ser842LeufsTer10)
n.108+1931_108+1932insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT
c.2384_2385insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile796GlyfsTer22)
c.2081_2082insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile695GlyfsTer22)
n.2796_2797insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT
n.2439_2440insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT
 ClinVar dbSNP
19g.11129570A>CCA404098863LDLRc.2705A>C (p.Lys902Thr)
c.*516A>C (n.*516A>C)
c.2327A>C (p.Lys776Thr)
c.2447A>C (p.Lys816Thr)
c.2701A>C
c.1943A>C (p.Lys648Thr)
c.2324A>C (p.Lys775Thr)
c.1913A>C (p.Lys638Thr)
c.2509A>C (p.Arg837=)
n.108+1916A>C
c.2369A>C (p.Lys790Thr)
c.2066A>C (p.Lys689Thr)
n.2457A>C
n.2781A>C
n.2424A>C
19g.11129570A>GCA404098866LDLRc.2705A>G (p.Lys902Arg)
c.*516A>G (n.*516A>G)
c.2327A>G (p.Lys776Arg)
c.2447A>G (p.Lys816Arg)
c.2701A>G
c.1943A>G (p.Lys648Arg)
c.2324A>G (p.Lys775Arg)
c.1913A>G (p.Lys638Arg)
c.2509A>G (p.Arg837Gly)
n.108+1916A>G
c.2369A>G (p.Lys790Arg)
c.2066A>G (p.Lys689Arg)
n.2457A>G
n.2781A>G
n.2424A>G
 ClinVar
19g.11129570A>TCA404098869LDLRc.2705A>T (p.Lys902Met)
c.*516A>T (n.*516A>T)
c.2327A>T (p.Lys776Met)
c.2447A>T (p.Lys816Met)
c.2701A>T
c.1943A>T (p.Lys648Met)
c.2324A>T (p.Lys775Met)
c.1913A>T (p.Lys638Met)
c.2509A>T (p.Arg837Ter)
n.108+1916A>T
c.2369A>T (p.Lys790Met)
c.2066A>T (p.Lys689Met)
n.2457A>T
n.2781A>T
n.2424A>T
19g.11129571G>ACA404098873LDLRc.2706G>A (p.Lys902=)
c.*517G>A (n.*517G>A)
c.2328G>A (p.Lys776=)
c.2448G>A (p.Lys816=)
c.2702G>A
c.1944G>A (p.Lys648=)
c.2325G>A (p.Lys775=)
c.1914G>A (p.Lys638=)
c.2510G>A (p.Arg837Lys)
n.108+1917G>A
c.2370G>A (p.Lys790=)
c.2067G>A (p.Lys689=)
n.2458G>A
n.2782G>A
n.2425G>A
19g.11129571G>CCA404098878LDLRc.2706G>C (p.Lys902Asn)
c.*517G>C (n.*517G>C)
c.2328G>C (p.Lys776Asn)
c.2448G>C (p.Lys816Asn)
c.2702G>C
c.1944G>C (p.Lys648Asn)
c.2325G>C (p.Lys775Asn)
c.1914G>C (p.Lys638Asn)
c.2510G>C (p.Arg837Thr)
n.108+1917G>C
c.2370G>C (p.Lys790Asn)
c.2067G>C (p.Lys689Asn)
n.2458G>C
n.2782G>C
n.2425G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11129571G=CA2322780285LDLRc.2706G= (p.Lys902=)
c.*517G= (n.*517G=)
c.2328G= (p.Lys776=)
c.2448G= (p.Lys816=)
c.2702G=
c.1944G= (p.Lys648=)
c.2325G= (p.Lys775=)
c.1914G= (p.Lys638=)
c.2510G= (p.Arg837=)
n.108+1917G=
c.2370G= (p.Lys790=)
c.2067G= (p.Lys689=)
n.2458G=
n.2782G=
n.2425G=
19g.11129571G>TCA404098881LDLRc.2706G>T (p.Lys902Asn)
c.*517G>T (n.*517G>T)
c.2328G>T (p.Lys776Asn)
c.2448G>T (p.Lys816Asn)
c.2702G>T
c.1944G>T (p.Lys648Asn)
c.2325G>T (p.Lys775Asn)
c.1914G>T (p.Lys638Asn)
c.2510G>T (p.Arg837Ile)
n.108+1917G>T
c.2370G>T (p.Lys790Asn)
c.2067G>T (p.Lys689Asn)
n.2458G>T
n.2782G>T
n.2425G>T
19g.11129572A>CCA404098887LDLRc.2707A>C (p.Asn903His)
c.*518A>C (n.*518A>C)
c.2329A>C (p.Asn777His)
c.2449A>C (p.Asn817His)
c.2703A>C
c.1945A>C (p.Asn649His)
c.2326A>C (p.Asn776His)
c.1915A>C (p.Asn639His)
c.2511A>C (p.Arg837Ser)
n.108+1918A>C
c.2371A>C (p.Asn791His)
c.2068A>C (p.Asn690His)
n.2459A>C
n.2783A>C
n.2426A>C
19g.11129572A>GCA404098891LDLRc.2707A>G (p.Asn903Asp)
c.*518A>G (n.*518A>G)
c.2329A>G (p.Asn777Asp)
c.2449A>G (p.Asn817Asp)
c.2703A>G
c.1945A>G (p.Asn649Asp)
c.2326A>G (p.Asn776Asp)
c.1915A>G (p.Asn639Asp)
c.2511A>G (p.Arg837=)
n.108+1918A>G
c.2371A>G (p.Asn791Asp)
c.2068A>G (p.Asn690Asp)
n.2459A>G
n.2783A>G
n.2426A>G
19g.11129572A>TCA404098896LDLRc.2707A>T (p.Asn903Tyr)
c.*518A>T (n.*518A>T)
c.2329A>T (p.Asn777Tyr)
c.2449A>T (p.Asn817Tyr)
c.2703A>T
c.1945A>T (p.Asn649Tyr)
c.2326A>T (p.Asn776Tyr)
c.1915A>T (p.Asn639Tyr)
c.2511A>T (p.Arg837Ser)
n.108+1918A>T
c.2371A>T (p.Asn791Tyr)
c.2068A>T (p.Asn690Tyr)
n.2459A>T
n.2783A>T
n.2426A>T
19g.11129572_11129576delCA2499225334LDLRc.2707_2711del (p.Asn903GlnfsTer6)
c.*518_*522del (n.*518_*522del)
c.2329_2333del (p.Asn777GlnfsTer6)
c.2449_2453del (p.Asn817GlnfsTer6)
c.2703_2707del
c.1945_1949del (p.Asn649GlnfsTer6)
c.2326_2330del (p.Asn776GlnfsTer6)
c.1915_1919del (p.Asn639GlnfsTer6)
c.2511_2515del (p.Arg837SerfsTer?)
n.108+1918_108+1922del
c.2371_2375del (p.Asn791GlnfsTer6)
c.2068_2072del (p.Asn690GlnfsTer6)
n.2783_2787del
n.2426_2430del
 ClinVar dbSNP
19g.11129573A>CCA404098898LDLRc.2708A>C (p.Asn903Thr)
c.*519A>C (n.*519A>C)
c.2330A>C (p.Asn777Thr)
c.2450A>C (p.Asn817Thr)
c.2704A>C
c.1946A>C (p.Asn649Thr)
c.2327A>C (p.Asn776Thr)
c.1916A>C (p.Asn639Thr)
c.2512A>C (p.Thr838Pro)
n.108+1919A>C
c.2372A>C (p.Asn791Thr)
c.2069A>C (p.Asn690Thr)
n.2460A>C
n.2784A>C
n.2427A>C
19g.11129573A>GCA404098901LDLRc.2708A>G (p.Asn903Ser)
c.*519A>G (n.*519A>G)
c.2330A>G (p.Asn777Ser)
c.2450A>G (p.Asn817Ser)
c.2704A>G
c.1946A>G (p.Asn649Ser)
c.2327A>G (p.Asn776Ser)
c.1916A>G (p.Asn639Ser)
c.2512A>G (p.Thr838Ala)
n.108+1919A>G
c.2372A>G (p.Asn791Ser)
c.2069A>G (p.Asn690Ser)
n.2460A>G
n.2784A>G
n.2427A>G
19g.11129573A>TCA404098902LDLRc.2708A>T (p.Asn903Ile)
c.*519A>T (n.*519A>T)
c.2330A>T (p.Asn777Ile)
c.2450A>T (p.Asn817Ile)
c.2704A>T
c.1946A>T (p.Asn649Ile)
c.2327A>T (p.Asn776Ile)
c.1916A>T (p.Asn639Ile)
c.2512A>T (p.Thr838Ser)
n.108+1919A>T
c.2372A>T (p.Asn791Ile)
c.2069A>T (p.Asn690Ile)
n.2460A>T
n.2784A>T
n.2427A>T
 gnomAD v4
19g.11129573_11129582delinsACATCAACAGCA2322780286LDLRc.2708_2717delinsACATCAACAG (p.Asn903=)
c.*519_*528delinsACATCAACAG (n.*519_*528delinsACATCAACAG)
c.2330_2339delinsACATCAACAG (p.Asn777=)
c.2450_2459delinsACATCAACAG (p.Asn817=)
c.2704_2713delinsACATCAACAG
c.1946_1955delinsACATCAACAG (p.Asn649=)
c.2327_2336delinsACATCAACAG (p.Asn776=)
c.1916_1925delinsACATCAACAG (p.Asn639=)
c.2512_2521delinsACATCAACAG (p.Thr838=)
n.108+1919_108+1928delinsACATCAACAG
c.2372_2381delinsACATCAACAG (p.Asn791=)
c.2069_2078delinsACATCAACAG (p.Asn690=)
n.2784_2793delinsACATCAACAG
n.2427_2436delinsACATCAACAG
19g.11129574C>ACA404098905LDLRc.2709C>A (p.Asn903Lys)
c.*520C>A (n.*520C>A)
c.2331C>A (p.Asn777Lys)
c.2451C>A (p.Asn817Lys)
c.2705C>A
c.1947C>A (p.Asn649Lys)
c.2328C>A (p.Asn776Lys)
c.1917C>A (p.Asn639Lys)
c.2513C>A (p.Thr838Lys)
n.108+1920C>A
c.2373C>A (p.Asn791Lys)
c.2070C>A (p.Asn690Lys)
n.2461C>A
n.2785C>A
n.2428C>A
19g.11129574C>GCA404098912LDLRc.2709C>G (p.Asn903Lys)
c.*520C>G (n.*520C>G)
c.2331C>G (p.Asn777Lys)
c.2451C>G (p.Asn817Lys)
c.2705C>G
c.1947C>G (p.Asn649Lys)
c.2328C>G (p.Asn776Lys)
c.1917C>G (p.Asn639Lys)
c.2513C>G (p.Thr838Arg)
n.108+1920C>G
c.2373C>G (p.Asn791Lys)
c.2070C>G (p.Asn690Lys)
n.2461C>G
n.2785C>G
n.2428C>G
19g.11129574C>TCA404098908LDLRc.2709C>T (p.Asn903=)
c.*520C>T (n.*520C>T)
c.2331C>T (p.Asn777=)
c.2451C>T (p.Asn817=)
c.2705C>T
c.1947C>T (p.Asn649=)
c.2328C>T (p.Asn776=)
c.1917C>T (p.Asn639=)
c.2513C>T (p.Thr838Ile)
n.108+1920C>T
c.2373C>T (p.Asn791=)
c.2070C>T (p.Asn690=)
n.2461C>T
n.2785C>T
n.2428C>T
19g.11129581_11129589delCA10585868LDLRc.2716_2724del (p.Ser906_Asn908del)
c.*527_*535del (n.*527_*535del)
c.2338_2346del (p.Ser780_Asn782del)
c.2458_2466del (p.Ser820_Asn822del)
c.2712_2720del
c.1954_1962del (p.Ser652_Asn654del)
c.2335_2343del (p.Ser779_Asn781del)
c.1924_1932del (p.Ser642_Asn644del)
c.2520_2528del (p.Ala841_Thr843del)
n.108+1927_108+1935del
c.2380_2388del (p.Ser794_Asn796del)
c.2077_2085del (p.Ser693_Asn695del)
n.2792_2800del
n.2435_2443del
 ClinVar dbSNP
19g.11129575A>CCA404098915LDLRc.2710A>C (p.Ile904Leu)
c.*521A>C (n.*521A>C)
c.2332A>C (p.Ile778Leu)
c.2452A>C (p.Ile818Leu)
c.2706A>C
c.1948A>C (p.Ile650Leu)
c.2329A>C (p.Ile777Leu)
c.1918A>C (p.Ile640Leu)
c.2514A>C (p.Thr838=)
n.108+1921A>C
c.2374A>C (p.Ile792Leu)
c.2071A>C (p.Ile691Leu)
n.2462A>C
n.2786A>C
n.2429A>C
19g.11129575A>GCA404098928LDLRc.2710A>G (p.Ile904Val)
c.*521A>G (n.*521A>G)
c.2332A>G (p.Ile778Val)
c.2452A>G (p.Ile818Val)
c.2706A>G
c.1948A>G (p.Ile650Val)
c.2329A>G (p.Ile777Val)
c.1918A>G (p.Ile640Val)
c.2514A>G (p.Thr838=)
n.108+1921A>G
c.2374A>G (p.Ile792Val)
c.2071A>G (p.Ile691Val)
n.2462A>G
n.2786A>G
n.2429A>G
 ClinVar dbSNP
19g.11129575A>TCA404098930LDLRc.2710A>T (p.Ile904Phe)
c.*521A>T (n.*521A>T)
c.2332A>T (p.Ile778Phe)
c.2452A>T (p.Ile818Phe)
c.2706A>T
c.1948A>T (p.Ile650Phe)
c.2329A>T (p.Ile777Phe)
c.1918A>T (p.Ile640Phe)
c.2514A>T (p.Thr838=)
n.108+1921A>T
c.2374A>T (p.Ile792Phe)
c.2071A>T (p.Ile691Phe)
n.2462A>T
n.2786A>T
n.2429A>T
19g.11129576T>ACA404098932LDLRc.2711T>A (p.Ile904Asn)
c.*522T>A (n.*522T>A)
c.2333T>A (p.Ile778Asn)
c.2453T>A (p.Ile818Asn)
c.2707T>A
c.1949T>A (p.Ile650Asn)
c.2330T>A (p.Ile777Asn)
c.1919T>A (p.Ile640Asn)
c.2515T>A (p.Ser839Thr)
n.108+1922T>A
c.2375T>A (p.Ile792Asn)
c.2072T>A (p.Ile691Asn)
n.2787T>A
n.2430T>A
19g.11129576T>CCA404098935LDLRc.2711T>C (p.Ile904Thr)
c.*522T>C (n.*522T>C)
c.2333T>C (p.Ile778Thr)
c.2453T>C (p.Ile818Thr)
c.2707T>C
c.1949T>C (p.Ile650Thr)
c.2330T>C (p.Ile777Thr)
c.1919T>C (p.Ile640Thr)
c.2515T>C (p.Ser839Pro)
n.108+1922T>C
c.2375T>C (p.Ile792Thr)
c.2072T>C (p.Ile691Thr)
n.2787T>C
n.2430T>C
19g.11129576T>GCA404098937LDLRc.2711T>G (p.Ile904Ser)
c.*522T>G (n.*522T>G)
c.2333T>G (p.Ile778Ser)
c.2453T>G (p.Ile818Ser)
c.2707T>G
c.1949T>G (p.Ile650Ser)
c.2330T>G (p.Ile777Ser)
c.1919T>G (p.Ile640Ser)
c.2515T>G (p.Ser839Ala)
n.108+1922T>G
c.2375T>G (p.Ile792Ser)
c.2072T>G (p.Ile691Ser)
n.2787T>G
n.2430T>G
19g.11129577C>ACA404098941LDLRc.2712C>A (p.Ile904=)
c.*523C>A (n.*523C>A)
c.2334C>A (p.Ile778=)
c.2454C>A (p.Ile818=)
c.2708C>A
c.1950C>A (p.Ile650=)
c.2331C>A (p.Ile777=)
c.1920C>A (p.Ile640=)
c.2516C>A (p.Ser839Ter)
n.108+1923C>A
c.2376C>A (p.Ile792=)
c.2073C>A (p.Ile691=)
n.2788C>A
n.2431C>A
 dbSNP
19g.11129577C=CA2322780287LDLRc.2712C= (p.Ile904=)
c.*523C= (n.*523C=)
c.2334C= (p.Ile778=)
c.2454C= (p.Ile818=)
c.2708C=
c.1950C= (p.Ile650=)
c.2331C= (p.Ile777=)
c.1920C= (p.Ile640=)
c.2516C= (p.Ser839=)
n.108+1923C=
c.2376C= (p.Ile792=)
c.2073C= (p.Ile691=)
n.2788C=
n.2431C=
19g.11129577C>GCA404098943LDLRc.2712C>G (p.Ile904Met)
c.*523C>G (n.*523C>G)
c.2334C>G (p.Ile778Met)
c.2454C>G (p.Ile818Met)
c.2708C>G
c.1950C>G (p.Ile650Met)
c.2331C>G (p.Ile777Met)
c.1920C>G (p.Ile640Met)
c.2516C>G (p.Ser839Ter)
n.108+1923C>G
c.2376C>G (p.Ile792Met)
c.2073C>G (p.Ile691Met)
n.2788C>G
n.2431C>G
 gnomAD v4 COSMIC
19g.11129577C>TCA404098954LDLRc.2712C>T (p.Ile904=)
c.*523C>T (n.*523C>T)
c.2334C>T (p.Ile778=)
c.2454C>T (p.Ile818=)
c.2708C>T
c.1950C>T (p.Ile650=)
c.2331C>T (p.Ile777=)
c.1920C>T (p.Ile640=)
c.2516C>T (p.Ser839Leu)
n.108+1923C>T
c.2376C>T (p.Ile792=)
c.2073C>T (p.Ile691=)
n.2788C>T
n.2431C>T
19g.11129578A>CCA404098965LDLRc.2713A>C (p.Asn905His)
c.*524A>C (n.*524A>C)
c.2335A>C (p.Asn779His)
c.2455A>C (p.Asn819His)
c.2709A>C
c.1951A>C (p.Asn651His)
c.2332A>C (p.Asn778His)
c.1921A>C (p.Asn641His)
c.2517A>C (p.Ser839=)
n.108+1924A>C
c.2377A>C (p.Asn793His)
c.2074A>C (p.Asn692His)
n.2789A>C
n.2432A>C
19g.11129578A>GCA404098958LDLRc.2713A>G (p.Asn905Asp)
c.*524A>G (n.*524A>G)
c.2335A>G (p.Asn779Asp)
c.2455A>G (p.Asn819Asp)
c.2709A>G
c.1951A>G (p.Asn651Asp)
c.2332A>G (p.Asn778Asp)
c.1921A>G (p.Asn641Asp)
c.2517A>G (p.Ser839=)
n.108+1924A>G
c.2377A>G (p.Asn793Asp)
c.2074A>G (p.Asn692Asp)
n.2789A>G
n.2432A>G
19g.11129578A>TCA404098960LDLRc.2713A>T (p.Asn905Tyr)
c.*524A>T (n.*524A>T)
c.2335A>T (p.Asn779Tyr)
c.2455A>T (p.Asn819Tyr)
c.2709A>T
c.1951A>T (p.Asn651Tyr)
c.2332A>T (p.Asn778Tyr)
c.1921A>T (p.Asn641Tyr)
c.2517A>T (p.Ser839=)
n.108+1924A>T
c.2377A>T (p.Asn793Tyr)
c.2074A>T (p.Asn692Tyr)
n.2789A>T
n.2432A>T
19g.11129579A>CCA404098975LDLRc.2714A>C (p.Asn905Thr)
c.*525A>C (n.*525A>C)
c.2336A>C (p.Asn779Thr)
c.2456A>C (p.Asn819Thr)
c.2710A>C
c.1952A>C (p.Asn651Thr)
c.2333A>C (p.Asn778Thr)
c.1922A>C (p.Asn641Thr)
c.2518A>C (p.Thr840Pro)
n.108+1925A>C
c.2378A>C (p.Asn793Thr)
c.2075A>C (p.Asn692Thr)
n.2790A>C
n.2433A>C
19g.11129579A>GCA404098977LDLRc.2714A>G (p.Asn905Ser)
c.*525A>G (n.*525A>G)
c.2336A>G (p.Asn779Ser)
c.2456A>G (p.Asn819Ser)
c.2710A>G
c.1952A>G (p.Asn651Ser)
c.2333A>G (p.Asn778Ser)
c.1922A>G (p.Asn641Ser)
c.2518A>G (p.Thr840Ala)
n.108+1925A>G
c.2378A>G (p.Asn793Ser)
c.2075A>G (p.Asn692Ser)
n.2790A>G
n.2433A>G
 gnomAD v4
19g.11129579A>TCA404098979LDLRc.2714A>T (p.Asn905Ile)
c.*525A>T (n.*525A>T)
c.2336A>T (p.Asn779Ile)
c.2456A>T (p.Asn819Ile)
c.2710A>T
c.1952A>T (p.Asn651Ile)
c.2333A>T (p.Asn778Ile)
c.1922A>T (p.Asn641Ile)
c.2518A>T (p.Thr840Ser)
n.108+1925A>T
c.2378A>T (p.Asn793Ile)
c.2075A>T (p.Asn692Ile)
n.2790A>T
n.2433A>T
19g.11129580C>ACA404098982LDLRc.2715C>A (p.Asn905Lys)
c.*526C>A (n.*526C>A)
c.2337C>A (p.Asn779Lys)
c.2457C>A (p.Asn819Lys)
c.2711C>A
c.1953C>A (p.Asn651Lys)
c.2334C>A (p.Asn778Lys)
c.1923C>A (p.Asn641Lys)
c.2519C>A (p.Thr840Lys)
n.108+1926C>A
c.2379C>A (p.Asn793Lys)
c.2076C>A (p.Asn692Lys)
n.2791C>A
n.2434C>A
19g.11129580C=CA2322780288LDLRc.2715C= (p.Asn905=)
c.*526C= (n.*526C=)
c.2337C= (p.Asn779=)
c.2457C= (p.Asn819=)
c.2711C=
c.1953C= (p.Asn651=)
c.2334C= (p.Asn778=)
c.1923C= (p.Asn641=)
c.2519C= (p.Thr840=)
n.108+1926C=
c.2379C= (p.Asn793=)
c.2076C= (p.Asn692=)
n.2791C=
n.2434C=
19g.11129580C>GCA404098985LDLRc.2715C>G (p.Asn905Lys)
c.*526C>G (n.*526C>G)
c.2337C>G (p.Asn779Lys)
c.2457C>G (p.Asn819Lys)
c.2711C>G
c.1953C>G (p.Asn651Lys)
c.2334C>G (p.Asn778Lys)
c.1923C>G (p.Asn641Lys)
c.2519C>G (p.Thr840Arg)
n.108+1926C>G
c.2379C>G (p.Asn793Lys)
c.2076C>G (p.Asn692Lys)
n.2791C>G
n.2434C>G
19g.11129580C>TCA040790LDLRc.2715C>T (p.Asn905=)
c.*526C>T (n.*526C>T)
c.2337C>T (p.Asn779=)
c.2457C>T (p.Asn819=)
c.2711C>T
c.1953C>T (p.Asn651=)
c.2334C>T (p.Asn778=)
c.1923C>T (p.Asn641=)
c.2519C>T (p.Thr840Ile)
n.108+1926C>T
c.2379C>T (p.Asn793=)
c.2076C>T (p.Asn692=)
n.2791C>T
n.2434C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11129582_11129587delCA2582476514LDLRc.2717_2722del (p.Ser906_Ile907del)
c.*528_*533del (n.*528_*533del)
c.2339_2344del (p.Ser780_Ile781del)
c.2459_2464del (p.Ser820_Ile821del)
c.2713_2718del
c.1955_1960del (p.Ser652_Ile653del)
c.2336_2341del (p.Ser779_Ile780del)
c.1925_1930del (p.Ser642_Ile643del)
c.2521_2526del (p.Ala841_Ser842del)
n.108+1928_108+1933del
c.2381_2386del (p.Ser794_Ile795del)
c.2078_2083del (p.Ser693_Ile694del)
n.2793_2798del
n.2436_2441del
 gnomAD v4
19g.11129581A=CA2322780289LDLRc.2716A= (p.Ser906=)
c.*527A= (n.*527A=)
c.2338A= (p.Ser780=)
c.2458A= (p.Ser820=)
c.2712A=
c.1954A= (p.Ser652=)
c.2335A= (p.Ser779=)
c.1924A= (p.Ser642=)
c.2520A= (p.Thr840=)
n.108+1927A=
c.2380A= (p.Ser794=)
c.2077A= (p.Ser693=)
n.2792A=
n.2435A=
19g.11129581A>CCA404099003LDLRc.2716A>C (p.Ser906Arg)
c.*527A>C (n.*527A>C)
c.2338A>C (p.Ser780Arg)
c.2458A>C (p.Ser820Arg)
c.2712A>C
c.1954A>C (p.Ser652Arg)
c.2335A>C (p.Ser779Arg)
c.1924A>C (p.Ser642Arg)
c.2520A>C (p.Thr840=)
n.108+1927A>C
c.2380A>C (p.Ser794Arg)
c.2077A>C (p.Ser693Arg)
n.2792A>C
n.2435A>C
19g.11129581A>GCA404098998LDLRc.2716A>G (p.Ser906Gly)
c.*527A>G (n.*527A>G)
c.2338A>G (p.Ser780Gly)
c.2458A>G (p.Ser820Gly)
c.2712A>G
c.1954A>G (p.Ser652Gly)
c.2335A>G (p.Ser779Gly)
c.1924A>G (p.Ser642Gly)
c.2520A>G (p.Thr840=)
n.108+1927A>G
c.2380A>G (p.Ser794Gly)
c.2077A>G (p.Ser693Gly)
n.2792A>G
n.2435A>G
 dbSNP gnomAD v3 gnomAD v4
19g.11129581A>TCA404098994LDLRc.2716A>T (p.Ser906Cys)
c.*527A>T (n.*527A>T)
c.2338A>T (p.Ser780Cys)
c.2458A>T (p.Ser820Cys)
c.2712A>T
c.1954A>T (p.Ser652Cys)
c.2335A>T (p.Ser779Cys)
c.1924A>T (p.Ser642Cys)
c.2520A>T (p.Thr840=)
n.108+1927A>T
c.2380A>T (p.Ser794Cys)
c.2077A>T (p.Ser693Cys)
n.2792A>T
n.2435A>T
19g.11129582G>ACA404099008LDLRc.2717G>A (p.Ser906Asn)
c.*528G>A (n.*528G>A)
c.2339G>A (p.Ser780Asn)
c.2459G>A (p.Ser820Asn)
c.2713G>A
c.1955G>A (p.Ser652Asn)
c.2336G>A (p.Ser779Asn)
c.1925G>A (p.Ser642Asn)
c.2521G>A (p.Ala841Thr)
n.108+1928G>A
c.2381G>A (p.Ser794Asn)
c.2078G>A (p.Ser693Asn)
n.2793G>A
n.2436G>A
 gnomAD v4
19g.11129582G>CCA404099011LDLRc.2717G>C (p.Ser906Thr)
c.*528G>C (n.*528G>C)
c.2339G>C (p.Ser780Thr)
c.2459G>C (p.Ser820Thr)
c.2713G>C
c.1955G>C (p.Ser652Thr)
c.2336G>C (p.Ser779Thr)
c.1925G>C (p.Ser642Thr)
c.2521G>C (p.Ala841Pro)
n.108+1928G>C
c.2381G>C (p.Ser794Thr)
c.2078G>C (p.Ser693Thr)
n.2793G>C
n.2436G>C
19g.11129582G>TCA404099015LDLRc.2717G>T (p.Ser906Ile)
c.*528G>T (n.*528G>T)
c.2339G>T (p.Ser780Ile)
c.2459G>T (p.Ser820Ile)
c.2713G>T
c.1955G>T (p.Ser652Ile)
c.2336G>T (p.Ser779Ile)
c.1925G>T (p.Ser642Ile)
c.2521G>T (p.Ala841Ser)
n.108+1928G>T
c.2381G>T (p.Ser794Ile)
c.2078G>T (p.Ser693Ile)
n.2793G>T
n.2436G>T
19g.11129583C>ACA404099019LDLRc.2718C>A (p.Ser906Arg)
c.*529C>A (n.*529C>A)
c.2340C>A (p.Ser780Arg)
c.2460C>A (p.Ser820Arg)
c.2714C>A
c.1956C>A (p.Ser652Arg)
c.2337C>A (p.Ser779Arg)
c.1926C>A (p.Ser642Arg)
c.2522C>A (p.Ala841Glu)
n.108+1929C>A
c.2382C>A (p.Ser794Arg)
c.2079C>A (p.Ser693Arg)
n.2794C>A
n.2437C>A
19g.11129583C>GCA404099023LDLRc.2718C>G (p.Ser906Arg)
c.*529C>G (n.*529C>G)
c.2340C>G (p.Ser780Arg)
c.2460C>G (p.Ser820Arg)
c.2714C>G
c.1956C>G (p.Ser652Arg)
c.2337C>G (p.Ser779Arg)
c.1926C>G (p.Ser642Arg)
c.2522C>G (p.Ala841Gly)
n.108+1929C>G
c.2382C>G (p.Ser794Arg)
c.2079C>G (p.Ser693Arg)
n.2794C>G
n.2437C>G
19g.11129583C>TCA404099025LDLRc.2718C>T (p.Ser906=)
c.*529C>T (n.*529C>T)
c.2340C>T (p.Ser780=)
c.2460C>T (p.Ser820=)
c.2714C>T
c.1956C>T (p.Ser652=)
c.2337C>T (p.Ser779=)
c.1926C>T (p.Ser642=)
c.2522C>T (p.Ala841Val)
n.108+1929C>T
c.2382C>T (p.Ser794=)
c.2079C>T (p.Ser693=)
n.2794C>T
n.2437C>T
19g.11129584A>CCA404099028LDLRc.2719A>C (p.Ile907Leu)
c.*530A>C (n.*530A>C)
c.2341A>C (p.Ile781Leu)
c.2461A>C (p.Ile821Leu)
c.2715A>C
c.1957A>C (p.Ile653Leu)
c.2338A>C (p.Ile780Leu)
c.1927A>C (p.Ile643Leu)
c.2523A>C (p.Ala841=)
n.108+1930A>C
c.2383A>C (p.Ile795Leu)
c.2080A>C (p.Ile694Leu)
n.2795A>C
n.2438A>C
19g.11129584A>GCA404099035LDLRc.2719A>G (p.Ile907Val)
c.*530A>G (n.*530A>G)
c.2341A>G (p.Ile781Val)
c.2461A>G (p.Ile821Val)
c.2715A>G
c.1957A>G (p.Ile653Val)
c.2338A>G (p.Ile780Val)
c.1927A>G (p.Ile643Val)
c.2523A>G (p.Ala841=)
n.108+1930A>G
c.2383A>G (p.Ile795Val)
c.2080A>G (p.Ile694Val)
n.2795A>G
n.2438A>G
19g.11129584A>TCA404099030LDLRc.2719A>T (p.Ile907Phe)
c.*530A>T (n.*530A>T)
c.2341A>T (p.Ile781Phe)
c.2461A>T (p.Ile821Phe)
c.2715A>T
c.1957A>T (p.Ile653Phe)
c.2338A>T (p.Ile780Phe)
c.1927A>T (p.Ile643Phe)
c.2523A>T (p.Ala841=)
n.108+1930A>T
c.2383A>T (p.Ile795Phe)
c.2080A>T (p.Ile694Phe)
n.2795A>T
n.2438A>T
19g.11129585T>ACA404099039LDLRc.2720T>A (p.Ile907Asn)
c.*531T>A (n.*531T>A)
c.2342T>A (p.Ile781Asn)
c.2462T>A (p.Ile821Asn)
c.2716T>A
c.1958T>A (p.Ile653Asn)
c.2339T>A (p.Ile780Asn)
c.1928T>A (p.Ile643Asn)
c.2524T>A (p.Ser842Thr)
n.108+1931T>A
c.2384T>A (p.Ile795Asn)
c.2081T>A (p.Ile694Asn)
n.2796T>A
n.2439T>A
19g.11129585T>CCA404099043LDLRc.2720T>C (p.Ile907Thr)
c.*531T>C (n.*531T>C)
c.2342T>C (p.Ile781Thr)
c.2462T>C (p.Ile821Thr)
c.2716T>C
c.1958T>C (p.Ile653Thr)
c.2339T>C (p.Ile780Thr)
c.1928T>C (p.Ile643Thr)
c.2524T>C (p.Ser842Pro)
n.108+1931T>C
c.2384T>C (p.Ile795Thr)
c.2081T>C (p.Ile694Thr)
n.2796T>C
n.2439T>C
19g.11129585T>GCA404099047LDLRc.2720T>G (p.Ile907Ser)
c.*531T>G (n.*531T>G)
c.2342T>G (p.Ile781Ser)
c.2462T>G (p.Ile821Ser)
c.2716T>G
c.1958T>G (p.Ile653Ser)
c.2339T>G (p.Ile780Ser)
c.1928T>G (p.Ile643Ser)
c.2524T>G (p.Ser842Ala)
n.108+1931T>G
c.2384T>G (p.Ile795Ser)
c.2081T>G (p.Ile694Ser)
n.2796T>G
n.2439T>G
19g.11129586C>ACA404099053LDLRc.2721C>A (p.Ile907=)
c.*532C>A (n.*532C>A)
c.2343C>A (p.Ile781=)
c.2463C>A (p.Ile821=)
c.2717C>A
c.1959C>A (p.Ile653=)
c.2340C>A (p.Ile780=)
c.1929C>A (p.Ile643=)
c.2525C>A (p.Ser842Ter)
n.108+1932C>A
c.2385C>A (p.Ile795=)
c.2082C>A (p.Ile694=)
n.2797C>A
n.2440C>A
19g.11129586C>GCA404099056LDLRc.2721C>G (p.Ile907Met)
c.*532C>G (n.*532C>G)
c.2343C>G (p.Ile781Met)
c.2463C>G (p.Ile821Met)
c.2717C>G
c.1959C>G (p.Ile653Met)
c.2340C>G (p.Ile780Met)
c.1929C>G (p.Ile643Met)
c.2525C>G (p.Ser842Ter)
n.108+1932C>G
c.2385C>G (p.Ile795Met)
c.2082C>G (p.Ile694Met)
n.2797C>G
n.2440C>G
19g.11129586C>TCA404099059LDLRc.2721C>T (p.Ile907=)
c.*532C>T (n.*532C>T)
c.2343C>T (p.Ile781=)
c.2463C>T (p.Ile821=)
c.2717C>T
c.1959C>T (p.Ile653=)
c.2340C>T (p.Ile780=)
c.1929C>T (p.Ile643=)
c.2525C>T (p.Ser842Leu)
n.108+1932C>T
c.2385C>T (p.Ile795=)
c.2082C>T (p.Ile694=)
n.2797C>T
n.2440C>T
19g.11129587A>CCA404099069LDLRc.2722A>C (p.Asn908His)
c.*533A>C (n.*533A>C)
c.2344A>C (p.Asn782His)
c.2464A>C (p.Asn822His)
c.2718A>C
c.1960A>C (p.Asn654His)
c.2341A>C (p.Asn781His)
c.1930A>C (p.Asn644His)
c.2526A>C (p.Ser842=)
n.108+1933A>C
c.2386A>C (p.Asn796His)
c.2083A>C (p.Asn695His)
n.2798A>C
n.2441A>C
19g.11129587A>GCA404099073LDLRc.2722A>G (p.Asn908Asp)
c.*533A>G (n.*533A>G)
c.2344A>G (p.Asn782Asp)
c.2464A>G (p.Asn822Asp)
c.2718A>G
c.1960A>G (p.Asn654Asp)
c.2341A>G (p.Asn781Asp)
c.1930A>G (p.Asn644Asp)
c.2526A>G (p.Ser842=)
n.108+1933A>G
c.2386A>G (p.Asn796Asp)
c.2083A>G (p.Asn695Asp)
n.2798A>G
n.2441A>G
19g.11129587A>TCA404099077LDLRc.2722A>T (p.Asn908Tyr)
c.*533A>T (n.*533A>T)
c.2344A>T (p.Asn782Tyr)
c.2464A>T (p.Asn822Tyr)
c.2718A>T
c.1960A>T (p.Asn654Tyr)
c.2341A>T (p.Asn781Tyr)
c.1930A>T (p.Asn644Tyr)
c.2526A>T (p.Ser842=)
n.108+1933A>T
c.2386A>T (p.Asn796Tyr)
c.2083A>T (p.Asn695Tyr)
n.2798A>T
n.2441A>T
19g.11129588A>CCA404099080LDLRc.2723A>C (p.Asn908Thr)
c.*534A>C (n.*534A>C)
c.2345A>C (p.Asn782Thr)
c.2465A>C (p.Asn822Thr)
c.2719A>C
c.1961A>C (p.Asn654Thr)
c.2342A>C (p.Asn781Thr)
c.1931A>C (p.Asn644Thr)
c.2527A>C (p.Thr843Pro)
n.108+1934A>C
c.2387A>C (p.Asn796Thr)
c.2084A>C (p.Asn695Thr)
n.2799A>C
n.2442A>C
19g.11129588A>GCA404099084LDLRc.2723A>G (p.Asn908Ser)
c.*534A>G (n.*534A>G)
c.2345A>G (p.Asn782Ser)
c.2465A>G (p.Asn822Ser)
c.2719A>G
c.1961A>G (p.Asn654Ser)
c.2342A>G (p.Asn781Ser)
c.1931A>G (p.Asn644Ser)
c.2527A>G (p.Thr843Ala)
n.108+1934A>G
c.2387A>G (p.Asn796Ser)
c.2084A>G (p.Asn695Ser)
n.2799A>G
n.2442A>G
19g.11129588A>TCA404099086LDLRc.2723A>T (p.Asn908Ile)
c.*534A>T (n.*534A>T)
c.2345A>T (p.Asn782Ile)
c.2465A>T (p.Asn822Ile)
c.2719A>T
c.1961A>T (p.Asn654Ile)
c.2342A>T (p.Asn781Ile)
c.1931A>T (p.Asn644Ile)
c.2527A>T (p.Thr843Ser)
n.108+1934A>T
c.2387A>T (p.Asn796Ile)
c.2084A>T (p.Asn695Ile)
n.2799A>T
n.2442A>T
19g.11129589C>ACA404099092LDLRc.2724C>A (p.Asn908Lys)
c.*535C>A (n.*535C>A)
c.2346C>A (p.Asn782Lys)
c.2466C>A (p.Asn822Lys)
c.2720C>A
c.1962C>A (p.Asn654Lys)
c.2343C>A (p.Asn781Lys)
c.1932C>A (p.Asn644Lys)
c.2528C>A (p.Thr843Asn)
n.108+1935C>A
c.2388C>A (p.Asn796Lys)
c.2085C>A (p.Asn695Lys)
n.2800C>A
n.2443C>A
19g.11129589C>GCA404099107LDLRc.2724C>G (p.Asn908Lys)
c.*535C>G (n.*535C>G)
c.2346C>G (p.Asn782Lys)
c.2466C>G (p.Asn822Lys)
c.2720C>G
c.1962C>G (p.Asn654Lys)
c.2343C>G (p.Asn781Lys)
c.1932C>G (p.Asn644Lys)
c.2528C>G (p.Thr843Ser)
n.108+1935C>G
c.2388C>G (p.Asn796Lys)
c.2085C>G (p.Asn695Lys)
n.2800C>G
n.2443C>G
 gnomAD v4
19g.11129589C>TCA404099094LDLRc.2724C>T (p.Asn908=)
c.*535C>T (n.*535C>T)
c.2346C>T (p.Asn782=)
c.2466C>T (p.Asn822=)
c.2720C>T
c.1962C>T (p.Asn654=)
c.2343C>T (p.Asn781=)
c.1932C>T (p.Asn644=)
c.2528C>T (p.Thr843Ile)
n.108+1935C>T
c.2388C>T (p.Asn796=)
c.2085C>T (p.Asn695=)
n.2800C>T
n.2443C>T
 ClinVar gnomAD v4
19g.11129590T>ACA404099112LDLRc.2725T>A (p.Phe909Ile)
c.*536T>A (n.*536T>A)
c.2347T>A (p.Phe783Ile)
c.2467T>A (p.Phe823Ile)
c.2721T>A
c.1963T>A (p.Phe655Ile)
c.2344T>A (p.Phe782Ile)
c.1933T>A (p.Phe645Ile)
c.2529T>A (p.Thr843=)
n.108+1936T>A
c.2389T>A (p.Phe797Ile)
c.2086T>A (p.Phe696Ile)
n.2801T>A
n.2444T>A
19g.11129590T>CCA404099114LDLRc.2725T>C (p.Phe909Leu)
c.*536T>C (n.*536T>C)
c.2347T>C (p.Phe783Leu)
c.2467T>C (p.Phe823Leu)
c.2721T>C
c.1963T>C (p.Phe655Leu)
c.2344T>C (p.Phe782Leu)
c.1933T>C (p.Phe645Leu)
c.2529T>C (p.Thr843=)
n.108+1936T>C
c.2389T>C (p.Phe797Leu)
c.2086T>C (p.Phe696Leu)
n.2801T>C
n.2444T>C
19g.11129590T>GCA404099123LDLRc.2725T>G (p.Phe909Val)
c.*536T>G (n.*536T>G)
c.2347T>G (p.Phe783Val)
c.2467T>G (p.Phe823Val)
c.2721T>G
c.1963T>G (p.Phe655Val)
c.2344T>G (p.Phe782Val)
c.1933T>G (p.Phe645Val)
c.2529T>G (p.Thr843=)
n.108+1936T>G
c.2389T>G (p.Phe797Val)
c.2086T>G (p.Phe696Val)
n.2801T>G
n.2444T>G
19g.11129591T>ACA404099127LDLRc.2726T>A (p.Phe909Tyr)
c.*537T>A (n.*537T>A)
c.2348T>A (p.Phe783Tyr)
c.2468T>A (p.Phe823Tyr)
c.2722T>A
c.1964T>A (p.Phe655Tyr)
c.2345T>A (p.Phe782Tyr)
c.1934T>A (p.Phe645Tyr)
c.2530T>A (p.Leu844Met)
n.108+1937T>A
c.2390T>A (p.Phe797Tyr)
c.2087T>A (p.Phe696Tyr)
n.2802T>A
n.2445T>A
19g.11129591T>CCA404099130LDLRc.2726T>C (p.Phe909Ser)
c.*537T>C (n.*537T>C)
c.2348T>C (p.Phe783Ser)
c.2468T>C (p.Phe823Ser)
c.2722T>C
c.1964T>C (p.Phe655Ser)
c.2345T>C (p.Phe782Ser)
c.1934T>C (p.Phe645Ser)
c.2530T>C (p.Leu844=)
n.108+1937T>C
c.2390T>C (p.Phe797Ser)
c.2087T>C (p.Phe696Ser)
n.2802T>C
n.2445T>C
 gnomAD v4
19g.11129591T>GCA404099132LDLRc.2726T>G (p.Phe909Cys)
c.*537T>G (n.*537T>G)
c.2348T>G (p.Phe783Cys)
c.2468T>G (p.Phe823Cys)
c.2722T>G
c.1964T>G (p.Phe655Cys)
c.2345T>G (p.Phe782Cys)
c.1934T>G (p.Phe645Cys)
c.2530T>G (p.Leu844Val)
n.108+1937T>G
c.2390T>G (p.Phe797Cys)
c.2087T>G (p.Phe696Cys)
n.2802T>G
n.2445T>G
19g.11129592T>ACA404099135LDLRc.2727T>A (p.Phe909Leu)
c.*538T>A (n.*538T>A)
c.2349T>A (p.Phe783Leu)
c.2469T>A (p.Phe823Leu)
c.2723T>A
c.1965T>A (p.Phe655Leu)
c.2346T>A (p.Phe782Leu)
c.1935T>A (p.Phe645Leu)
c.2531T>A (p.Leu844Ter)
n.108+1938T>A
c.2391T>A (p.Phe797Leu)
c.2088T>A (p.Phe696Leu)
n.2803T>A
n.2446T>A
19g.11129592T>CCA305309120LDLRc.2727T>C (p.Phe909=)
c.*538T>C (n.*538T>C)
c.2349T>C (p.Phe783=)
c.2469T>C (p.Phe823=)
c.2723T>C
c.1965T>C (p.Phe655=)
c.2346T>C (p.Phe782=)
c.1935T>C (p.Phe645=)
c.2531T>C (p.Leu844Ser)
n.108+1938T>C
c.2391T>C (p.Phe797=)
c.2088T>C (p.Phe696=)
n.2803T>C
n.2446T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11129592T>GCA404099141LDLRc.2727T>G (p.Phe909Leu)
c.*538T>G (n.*538T>G)
c.2349T>G (p.Phe783Leu)
c.2469T>G (p.Phe823Leu)
c.2723T>G
c.1965T>G (p.Phe655Leu)
c.2346T>G (p.Phe782Leu)
c.1935T>G (p.Phe645Leu)
c.2531T>G (p.Leu844Trp)
n.108+1938T>G
c.2391T>G (p.Phe797Leu)
c.2088T>G (p.Phe696Leu)
n.2803T>G
n.2446T>G
19g.11129592T=CA2322780290LDLRc.2727T= (p.Phe909=)
c.*538T= (n.*538T=)
c.2349T= (p.Phe783=)
c.2469T= (p.Phe823=)
c.2723T=
c.1965T= (p.Phe655=)
c.2346T= (p.Phe782=)
c.1935T= (p.Phe645=)
c.2531T= (p.Leu844=)
n.108+1938T=
c.2391T= (p.Phe797=)
c.2088T= (p.Phe696=)
n.2803T=
n.2446T=
19g.11129593G>ACA404099148LDLRc.2728G>A (p.Asp910Asn)
c.*539G>A (n.*539G>A)
c.2350G>A (p.Asp784Asn)
c.2470G>A (p.Asp824Asn)
c.2724G>A
c.1966G>A (p.Asp656Asn)
c.2347G>A (p.Asp783Asn)
c.1936G>A (p.Asp646Asn)
c.2532G>A (p.Leu844=)
n.108+1939G>A
c.2392G>A (p.Asp798Asn)
c.2089G>A (p.Asp697Asn)
n.2804G>A
n.2447G>A
19g.11129593G>CCA404099152LDLRc.2728G>C (p.Asp910His)
c.*539G>C (n.*539G>C)
c.2350G>C (p.Asp784His)
c.2470G>C (p.Asp824His)
c.2724G>C
c.1966G>C (p.Asp656His)
c.2347G>C (p.Asp783His)
c.1936G>C (p.Asp646His)
c.2532G>C (p.Leu844Phe)
n.108+1939G>C
c.2392G>C (p.Asp798His)
c.2089G>C (p.Asp697His)
n.2804G>C
n.2447G>C
 dbSNP
19g.11129593G=CA2322780291LDLRc.2728G= (p.Asp910=)
c.*539G= (n.*539G=)
c.2350G= (p.Asp784=)
c.2470G= (p.Asp824=)
c.2724G=
c.1966G= (p.Asp656=)
c.2347G= (p.Asp783=)
c.1936G= (p.Asp646=)
c.2532G= (p.Leu844=)
n.108+1939G=
c.2392G= (p.Asp798=)
c.2089G= (p.Asp697=)
n.2804G=
n.2447G=
19g.11129593G>TCA404099154LDLRc.2728G>T (p.Asp910Tyr)
c.*539G>T (n.*539G>T)
c.2350G>T (p.Asp784Tyr)
c.2470G>T (p.Asp824Tyr)
c.2724G>T
c.1966G>T (p.Asp656Tyr)
c.2347G>T (p.Asp783Tyr)
c.1936G>T (p.Asp646Tyr)
c.2532G>T (p.Leu844Phe)
n.108+1939G>T
c.2392G>T (p.Asp798Tyr)
c.2089G>T (p.Asp697Tyr)
n.2804G>T
n.2447G>T
19g.11129594A>CCA404099162LDLRc.2729A>C (p.Asp910Ala)
c.*540A>C (n.*540A>C)
c.2351A>C (p.Asp784Ala)
c.2471A>C (p.Asp824Ala)
c.2725A>C
c.1967A>C (p.Asp656Ala)
c.2348A>C (p.Asp783Ala)
c.1937A>C (p.Asp646Ala)
c.2533A>C (p.Thr845Pro)
n.108+1940A>C
c.2393A>C (p.Asp798Ala)
c.2090A>C (p.Asp697Ala)
n.2805A>C
n.2448A>C
19g.11129594A>GCA404099163LDLRc.2729A>G (p.Asp910Gly)
c.*540A>G (n.*540A>G)
c.2351A>G (p.Asp784Gly)
c.2471A>G (p.Asp824Gly)
c.2725A>G
c.1967A>G (p.Asp656Gly)
c.2348A>G (p.Asp783Gly)
c.1937A>G (p.Asp646Gly)
c.2533A>G (p.Thr845Ala)
n.108+1940A>G
c.2393A>G (p.Asp798Gly)
c.2090A>G (p.Asp697Gly)
n.2805A>G
n.2448A>G
19g.11129594A>TCA404099161LDLRc.2729A>T (p.Asp910Val)
c.*540A>T (n.*540A>T)
c.2351A>T (p.Asp784Val)
c.2471A>T (p.Asp824Val)
c.2725A>T
c.1967A>T (p.Asp656Val)
c.2348A>T (p.Asp783Val)
c.1937A>T (p.Asp646Val)
c.2533A>T (p.Thr845Ser)
n.108+1940A>T
c.2393A>T (p.Asp798Val)
c.2090A>T (p.Asp697Val)
n.2805A>T
n.2448A>T
19g.11129596_11129598delCA2580613053LDLRc.2731_2733del (p.Asn911del)
c.*542_*544del (n.*542_*544del)
c.2353_2355del (p.Asn785del)
c.2473_2475del (p.Asn825del)
c.2727_2729del
c.1969_1971del (p.Asn657del)
c.2350_2352del (p.Asn784del)
c.1939_1941del (p.Asn647del)
c.2535_2537del (p.Thr846del)
n.108+1942_108+1944del
c.2395_2397del (p.Asn799del)
c.2092_2094del (p.Asn698del)
n.2807_2809del
n.2450_2452del
 ClinVar
19g.11129595C>ACA404099164LDLRc.2730C>A (p.Asp910Glu)
c.*541C>A (n.*541C>A)
c.2352C>A (p.Asp784Glu)
c.2472C>A (p.Asp824Glu)
c.2726C>A
c.1968C>A (p.Asp656Glu)
c.2349C>A (p.Asp783Glu)
c.1938C>A (p.Asp646Glu)
c.2534C>A (p.Thr845Lys)
n.108+1941C>A
c.2394C>A (p.Asp798Glu)
c.2091C>A (p.Asp697Glu)
n.2806C>A
n.2449C>A
19g.11129595C=CA2322780292LDLRc.2730C= (p.Asp910=)
c.*541C= (n.*541C=)
c.2352C= (p.Asp784=)
c.2472C= (p.Asp824=)
c.2726C=
c.1968C= (p.Asp656=)
c.2349C= (p.Asp783=)
c.1938C= (p.Asp646=)
c.2534C= (p.Thr845=)
n.108+1941C=
c.2394C= (p.Asp798=)
c.2091C= (p.Asp697=)
n.2806C=
n.2449C=
19g.11129595C>GCA404099166LDLRc.2730C>G (p.Asp910Glu)
c.*541C>G (n.*541C>G)
c.2352C>G (p.Asp784Glu)
c.2472C>G (p.Asp824Glu)
c.2726C>G
c.1968C>G (p.Asp656Glu)
c.2349C>G (p.Asp783Glu)
c.1938C>G (p.Asp646Glu)
c.2534C>G (p.Thr845Arg)
n.108+1941C>G
c.2394C>G (p.Asp798Glu)
c.2091C>G (p.Asp697Glu)
n.2806C>G
n.2449C>G
19g.11129595C>TCA404099168LDLRc.2730C>T (p.Asp910=)
c.*541C>T (n.*541C>T)
c.2352C>T (p.Asp784=)
c.2472C>T (p.Asp824=)
c.2726C>T
c.1968C>T (p.Asp656=)
c.2349C>T (p.Asp783=)
c.1938C>T (p.Asp646=)
c.2534C>T (p.Thr845Ile)
n.108+1941C>T
c.2394C>T (p.Asp798=)
c.2091C>T (p.Asp697=)
n.2806C>T
n.2449C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11129596A=CA2322780293LDLRc.2731A= (p.Asn911=)
c.*542A= (n.*542A=)
c.2353A= (p.Asn785=)
c.2473A= (p.Asn825=)
c.2727A=
c.1969A= (p.Asn657=)
c.2350A= (p.Asn784=)
c.1939A= (p.Asn647=)
c.2535A= (p.Thr845=)
n.108+1942A=
c.2395A= (p.Asn799=)
c.2092A= (p.Asn698=)
n.2807A=
n.2450A=
19g.11129596A>CCA404099169LDLRc.2731A>C (p.Asn911His)
c.*542A>C (n.*542A>C)
c.2353A>C (p.Asn785His)
c.2473A>C (p.Asn825His)
c.2727A>C
c.1969A>C (p.Asn657His)
c.2350A>C (p.Asn784His)
c.1939A>C (p.Asn647His)
c.2535A>C (p.Thr845=)
n.108+1942A>C
c.2395A>C (p.Asn799His)
c.2092A>C (p.Asn698His)
n.2807A>C
n.2450A>C
19g.11129596A>GCA10585869LDLRc.2731A>G (p.Asn911Asp)
c.*542A>G (n.*542A>G)
c.2353A>G (p.Asn785Asp)
c.2473A>G (p.Asn825Asp)
c.2727A>G
c.1969A>G (p.Asn657Asp)
c.2350A>G (p.Asn784Asp)
c.1939A>G (p.Asn647Asp)
c.2535A>G (p.Thr845=)
n.108+1942A>G
c.2395A>G (p.Asn799Asp)
c.2092A>G (p.Asn698Asp)
n.2807A>G
n.2450A>G
 ClinVar dbSNP
19g.11129596A>TCA404099173LDLRc.2731A>T (p.Asn911Tyr)
c.*542A>T (n.*542A>T)
c.2353A>T (p.Asn785Tyr)
c.2473A>T (p.Asn825Tyr)
c.2727A>T
c.1969A>T (p.Asn657Tyr)
c.2350A>T (p.Asn784Tyr)
c.1939A>T (p.Asn647Tyr)
c.2535A>T (p.Thr845=)
n.108+1942A>T
c.2395A>T (p.Asn799Tyr)
c.2092A>T (p.Asn698Tyr)
n.2807A>T
n.2450A>T
19g.11129597A>CCA404099178LDLRc.2732A>C (p.Asn911Thr)
c.*543A>C (n.*543A>C)
c.2354A>C (p.Asn785Thr)
c.2474A>C (p.Asn825Thr)
c.2728A>C
c.1970A>C (p.Asn657Thr)
c.2351A>C (p.Asn784Thr)
c.1940A>C (p.Asn647Thr)
c.2536A>C (p.Thr846Pro)
n.108+1943A>C
c.2396A>C (p.Asn799Thr)
c.2093A>C (p.Asn698Thr)
n.2808A>C
n.2451A>C
19g.11129597A>GCA404099182LDLRc.2732A>G (p.Asn911Ser)
c.*543A>G (n.*543A>G)
c.2354A>G (p.Asn785Ser)
c.2474A>G (p.Asn825Ser)
c.2728A>G
c.1970A>G (p.Asn657Ser)
c.2351A>G (p.Asn784Ser)
c.1940A>G (p.Asn647Ser)
c.2536A>G (p.Thr846Ala)
n.108+1943A>G
c.2396A>G (p.Asn799Ser)
c.2093A>G (p.Asn698Ser)
n.2808A>G
n.2451A>G
19g.11129597A>TCA404099180LDLRc.2732A>T (p.Asn911Ile)
c.*543A>T (n.*543A>T)
c.2354A>T (p.Asn785Ile)
c.2474A>T (p.Asn825Ile)
c.2728A>T
c.1970A>T (p.Asn657Ile)
c.2351A>T (p.Asn784Ile)
c.1940A>T (p.Asn647Ile)
c.2536A>T (p.Thr846Ser)
n.108+1943A>T
c.2396A>T (p.Asn799Ile)
c.2093A>T (p.Asn698Ile)
n.2808A>T
n.2451A>T
19g.11129597_11129598delinsACCA2322780294LDLRc.2732_2733delinsAC (p.Asn911=)
c.*543_*544delinsAC (n.*543_*544delinsAC)
c.2354_2355delinsAC (p.Asn785=)
c.2474_2475delinsAC (p.Asn825=)
c.2728_2729delinsAC
c.1970_1971delinsAC (p.Asn657=)
c.2351_2352delinsAC (p.Asn784=)
c.1940_1941delinsAC (p.Asn647=)
c.2536_2537delinsAC (p.Thr846=)
n.108+1943_108+1944delinsAC
c.2396_2397delinsAC (p.Asn799=)
c.2093_2094delinsAC (p.Asn698=)
n.2808_2809delinsAC
n.2451_2452delinsAC
19g.11129598C>ACA040801LDLRc.2733C>A (p.Asn911Lys)
c.*544C>A (n.*544C>A)
c.2355C>A (p.Asn785Lys)
c.2475C>A (p.Asn825Lys)
c.2729C>A
c.1971C>A (p.Asn657Lys)
c.2352C>A (p.Asn784Lys)
c.1941C>A (p.Asn647Lys)
c.2537C>A (p.Thr846Asn)
n.108+1944C>A
c.2397C>A (p.Asn799Lys)
c.2094C>A (p.Asn698Lys)
n.2809C>A
n.2452C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11129598C=CA2322780295LDLRc.2733C= (p.Asn911=)
c.*544C= (n.*544C=)
c.2355C= (p.Asn785=)
c.2475C= (p.Asn825=)
c.2729C=
c.1971C= (p.Asn657=)
c.2352C= (p.Asn784=)
c.1941C= (p.Asn647=)
c.2537C= (p.Thr846=)
n.108+1944C=
c.2397C= (p.Asn799=)
c.2094C= (p.Asn698=)
n.2809C=
n.2452C=
19g.11129598C>GCA023675LDLRc.2733C>G (p.Asn911Lys)
c.*544C>G (n.*544C>G)
c.2355C>G (p.Asn785Lys)
c.2475C>G (p.Asn825Lys)
c.2729C>G
c.1971C>G (p.Asn657Lys)
c.2352C>G (p.Asn784Lys)
c.1941C>G (p.Asn647Lys)
c.2537C>G (p.Thr846Ser)
n.108+1944C>G
c.2397C>G (p.Asn799Lys)
c.2094C>G (p.Asn698Lys)
n.2809C>G
n.2452C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11129598C>TCA404099189LDLRc.2733C>T (p.Asn911=)
c.*544C>T (n.*544C>T)
c.2355C>T (p.Asn785=)
c.2475C>T (p.Asn825=)
c.2729C>T
c.1971C>T (p.Asn657=)
c.2352C>T (p.Asn784=)
c.1941C>T (p.Asn647=)
c.2537C>T (p.Thr846Ile)
n.108+1944C>T
c.2397C>T (p.Asn799=)
c.2094C>T (p.Asn698=)
n.2809C>T
n.2452C>T
19g.11129601dupCA10585872LDLRc.2736dup (p.Val913ArgfsTer9)
c.*547dup (n.*547dup)
c.2358dup (p.Val787ArgfsTer9)
c.2478dup (p.Val827ArgfsTer9)
c.2732dup
c.1974dup (p.Val659ArgfsTer9)
c.2355dup (p.Val786ArgfsTer9)
c.1944dup (p.Val649ArgfsTer9)
c.2540dup (p.Ser848ValfsTer?)
n.108+1947dup
c.2400dup (p.Val801ArgfsTer9)
c.2097dup (p.Val700ArgfsTer9)
n.2812dup
n.2455dup
 ClinVar dbSNP
19g.11129601delCA10585871LDLRc.2736del (p.Val913SerfsTer?)
c.*547del (n.*547del)
c.2358del (p.Val787SerfsTer?)
c.2478del (p.Val827SerfsTer?)
c.2732del
c.1974del (p.Val659SerfsTer?)
c.2355del (p.Val786SerfsTer?)
c.1944del (p.Val649SerfsTer?)
c.2540del (p.Pro847ArgfsTer9)
n.108+1947del
c.2400del (p.Val801SerfsTer?)
c.2097del (p.Val700SerfsTer?)
n.2812del
n.2455del
 ClinVar dbSNP gnomAD v4
19g.11129599C>ACA10585870LDLRc.2734C>A (p.Pro912Thr)
c.*545C>A (n.*545C>A)
c.2356C>A (p.Pro786Thr)
c.2476C>A (p.Pro826Thr)
c.2730C>A
c.1972C>A (p.Pro658Thr)
c.2353C>A (p.Pro785Thr)
c.1942C>A (p.Pro648Thr)
c.2538C>A (p.Thr846=)
n.108+1945C>A
c.2398C>A (p.Pro800Thr)
c.2095C>A (p.Pro699Thr)
n.2810C>A
n.2453C>A
 ClinVar dbSNP gnomAD v4
19g.11129599C=CA2322780296LDLRc.2734C= (p.Pro912=)
c.*545C= (n.*545C=)
c.2356C= (p.Pro786=)
c.2476C= (p.Pro826=)
c.2730C=
c.1972C= (p.Pro658=)
c.2353C= (p.Pro785=)
c.1942C= (p.Pro648=)
c.2538C= (p.Thr846=)
n.108+1945C=
c.2398C= (p.Pro800=)
c.2095C= (p.Pro699=)
n.2810C=
n.2453C=
19g.11129599C>GCA404099201LDLRc.2734C>G (p.Pro912Ala)
c.*545C>G (n.*545C>G)
c.2356C>G (p.Pro786Ala)
c.2476C>G (p.Pro826Ala)
c.2730C>G
c.1972C>G (p.Pro658Ala)
c.2353C>G (p.Pro785Ala)
c.1942C>G (p.Pro648Ala)
c.2538C>G (p.Thr846=)
n.108+1945C>G
c.2398C>G (p.Pro800Ala)
c.2095C>G (p.Pro699Ala)
n.2810C>G
n.2453C>G
 dbSNP gnomAD v3 gnomAD v4
19g.11129599C>TCA404099205LDLRc.2734C>T (p.Pro912Ser)
c.*545C>T (n.*545C>T)
c.2356C>T (p.Pro786Ser)
c.2476C>T (p.Pro826Ser)
c.2730C>T
c.1972C>T (p.Pro658Ser)
c.2353C>T (p.Pro785Ser)
c.1942C>T (p.Pro648Ser)
c.2538C>T (p.Thr846=)
n.108+1945C>T
c.2398C>T (p.Pro800Ser)
c.2095C>T (p.Pro699Ser)
n.2810C>T
n.2453C>T
 ClinVar dbSNP gnomAD v4
19g.11129600C>ACA404099214LDLRc.2735C>A (p.Pro912His)
c.*546C>A (n.*546C>A)
c.2357C>A (p.Pro786His)
c.2477C>A (p.Pro826His)
c.2731C>A
c.1973C>A (p.Pro658His)
c.2354C>A (p.Pro785His)
c.1943C>A (p.Pro648His)
c.2539C>A (p.Pro847Thr)
n.108+1946C>A
c.2399C>A (p.Pro800His)
c.2096C>A (p.Pro699His)
n.2811C>A
n.2454C>A
19g.11129600C>GCA404099210LDLRc.2735C>G (p.Pro912Arg)
c.*546C>G (n.*546C>G)
c.2357C>G (p.Pro786Arg)
c.2477C>G (p.Pro826Arg)
c.2731C>G
c.1973C>G (p.Pro658Arg)
c.2354C>G (p.Pro785Arg)
c.1943C>G (p.Pro648Arg)
c.2539C>G (p.Pro847Ala)
n.108+1946C>G
c.2399C>G (p.Pro800Arg)
c.2096C>G (p.Pro699Arg)
n.2811C>G
n.2454C>G
19g.11129600C>TCA404099217LDLRc.2735C>T (p.Pro912Leu)
c.*546C>T (n.*546C>T)
c.2357C>T (p.Pro786Leu)
c.2477C>T (p.Pro826Leu)
c.2731C>T
c.1973C>T (p.Pro658Leu)
c.2354C>T (p.Pro785Leu)
c.1943C>T (p.Pro648Leu)
c.2539C>T (p.Pro847Ser)
n.108+1946C>T
c.2399C>T (p.Pro800Leu)
c.2096C>T (p.Pro699Leu)
n.2811C>T
n.2454C>T
19g.11129601C>ACA404099236LDLRc.2736C>A (p.Pro912=)
c.*547C>A (n.*547C>A)
c.2358C>A (p.Pro786=)
c.2478C>A (p.Pro826=)
c.2732C>A
c.1974C>A (p.Pro658=)
c.2355C>A (p.Pro785=)
c.1944C>A (p.Pro648=)
c.2540C>A (p.Pro847Gln)
n.108+1947C>A
c.2400C>A (p.Pro800=)
c.2097C>A (p.Pro699=)
n.2812C>A
n.2455C>A
19g.11129601C=CA2322780297LDLRc.2736C= (p.Pro912=)
c.*547C= (n.*547C=)
c.2358C= (p.Pro786=)
c.2478C= (p.Pro826=)
c.2732C=
c.1974C= (p.Pro658=)
c.2355C= (p.Pro785=)
c.1944C= (p.Pro648=)
c.2540C= (p.Pro847=)
n.108+1947C=
c.2400C= (p.Pro800=)
c.2097C= (p.Pro699=)
n.2812C=
n.2455C=
19g.11129601C>GCA404099241LDLRc.2736C>G (p.Pro912=)
c.*547C>G (n.*547C>G)
c.2358C>G (p.Pro786=)
c.2478C>G (p.Pro826=)
c.2732C>G
c.1974C>G (p.Pro658=)
c.2355C>G (p.Pro785=)
c.1944C>G (p.Pro648=)
c.2540C>G (p.Pro847Arg)
n.108+1947C>G
c.2400C>G (p.Pro800=)
c.2097C>G (p.Pro699=)
n.2812C>G
n.2455C>G
 ClinVar
19g.11129601C>TCA040824LDLRc.2736C>T (p.Pro912=)
c.*547C>T (n.*547C>T)
c.2358C>T (p.Pro786=)
c.2478C>T (p.Pro826=)
c.2732C>T
c.1974C>T (p.Pro658=)
c.2355C>T (p.Pro785=)
c.1944C>T (p.Pro648=)
c.2540C>T (p.Pro847Leu)
n.108+1947C>T
c.2400C>T (p.Pro800=)
c.2097C>T (p.Pro699=)
n.2812C>T
n.2455C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11129601_11129602insTTTCA9204963LDLRc.2736_2737insTTT (p.Pro912_Val913insPhe)
c.*547_*548insTTT (n.*547_*548insTTT)
c.2358_2359insTTT (p.Pro786_Val787insPhe)
c.2478_2479insTTT (p.Pro826_Val827insPhe)
c.2732_2733insTTT
c.1974_1975insTTT (p.Pro658_Val659insPhe)
c.2355_2356insTTT (p.Pro785_Val786insPhe)
c.1944_1945insTTT (p.Pro648_Val649insPhe)
c.2540_2541insTTT (p.Pro847_Ser848insLeu)
n.108+1947_108+1948insTTT
c.2400_2401insTTT (p.Pro800_Val801insPhe)
c.2097_2098insTTT (p.Pro699_Val700insPhe)
n.2812_2813insTTT
n.2455_2456insTTT
 dbSNP ExAC gnomAD v2
19g.11129602G>ACA023677LDLRc.2737G>A (p.Val913Ile)
c.*548G>A (n.*548G>A)
c.2359G>A (p.Val787Ile)
c.2479G>A (p.Val827Ile)
c.2733G>A
c.1975G>A (p.Val659Ile)
c.2356G>A (p.Val786Ile)
c.1945G>A (p.Val649Ile)
c.2541G>A (p.Pro847=)
n.108+1948G>A
c.2401G>A (p.Val801Ile)
c.2098G>A (p.Val700Ile)
n.2813G>A
n.2456G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11129602G>CCA404099245LDLRc.2737G>C (p.Val913Leu)
c.*548G>C (n.*548G>C)
c.2359G>C (p.Val787Leu)
c.2479G>C (p.Val827Leu)
c.2733G>C
c.1975G>C (p.Val659Leu)
c.2356G>C (p.Val786Leu)
c.1945G>C (p.Val649Leu)
c.2541G>C (p.Pro847=)
n.108+1948G>C
c.2401G>C (p.Val801Leu)
c.2098G>C (p.Val700Leu)
n.2813G>C
n.2456G>C
19g.11129602G=CA2322780298LDLRc.2737G= (p.Val913=)
c.*548G= (n.*548G=)
c.2359G= (p.Val787=)
c.2479G= (p.Val827=)
c.2733G=
c.1975G= (p.Val659=)
c.2356G= (p.Val786=)
c.1945G= (p.Val649=)
c.2541G= (p.Pro847=)
n.108+1948G=
c.2401G= (p.Val801=)
c.2098G= (p.Val700=)
n.2813G=
n.2456G=
19g.11129602G>TCA16602353LDLRc.2737G>T (p.Val913Phe)
c.*548G>T (n.*548G>T)
c.2359G>T (p.Val787Phe)
c.2479G>T (p.Val827Phe)
c.2733G>T
c.1975G>T (p.Val659Phe)
c.2356G>T (p.Val786Phe)
c.1945G>T (p.Val649Phe)
c.2541G>T (p.Pro847=)
n.108+1948G>T
c.2401G>T (p.Val801Phe)
c.2098G>T (p.Val700Phe)
n.2813G>T
n.2456G>T
 ClinVar dbSNP gnomAD v4
19g.11129603T>ACA404099252LDLRc.2738T>A (p.Val913Asp)
c.*549T>A (n.*549T>A)
c.2360T>A (p.Val787Asp)
c.2480T>A (p.Val827Asp)
c.2734T>A
c.1976T>A (p.Val659Asp)
c.2357T>A (p.Val786Asp)
c.1946T>A (p.Val649Asp)
c.2542T>A (p.Ser848Thr)
n.108+1949T>A
c.2402T>A (p.Val801Asp)
c.2099T>A (p.Val700Asp)
n.2814T>A
n.2457T>A
 ClinVar dbSNP
19g.11129603T>CCA404099255LDLRc.2738T>C (p.Val913Ala)
c.*549T>C (n.*549T>C)
c.2360T>C (p.Val787Ala)
c.2480T>C (p.Val827Ala)
c.2734T>C
c.1976T>C (p.Val659Ala)
c.2357T>C (p.Val786Ala)
c.1946T>C (p.Val649Ala)
c.2542T>C (p.Ser848Pro)
n.108+1949T>C
c.2402T>C (p.Val801Ala)
c.2099T>C (p.Val700Ala)
n.2814T>C
n.2457T>C
19g.11129603T>GCA404099257LDLRc.2738T>G (p.Val913Gly)
c.*549T>G (n.*549T>G)
c.2360T>G (p.Val787Gly)
c.2480T>G (p.Val827Gly)
c.2734T>G
c.1976T>G (p.Val659Gly)
c.2357T>G (p.Val786Gly)
c.1946T>G (p.Val649Gly)
c.2542T>G (p.Ser848Ala)
n.108+1949T>G
c.2402T>G (p.Val801Gly)
c.2099T>G (p.Val700Gly)
n.2814T>G
n.2457T>G
19g.11129603T=CA2322780299LDLRc.2738T= (p.Val913=)
c.*549T= (n.*549T=)
c.2360T= (p.Val787=)
c.2480T= (p.Val827=)
c.2734T=
c.1976T= (p.Val659=)
c.2357T= (p.Val786=)
c.1946T= (p.Val649=)
c.2542T= (p.Ser848=)
n.108+1949T=
c.2402T= (p.Val801=)
c.2099T= (p.Val700=)
n.2814T=
n.2457T=
19g.11129604C>ACA404099269LDLRc.2739C>A (p.Val913=)
c.*550C>A (n.*550C>A)
c.2361C>A (p.Val787=)
c.2481C>A (p.Val827=)
c.2735C>A
c.1977C>A (p.Val659=)
c.2358C>A (p.Val786=)
c.1947C>A (p.Val649=)
c.2543C>A (p.Ser848Tyr)
n.108+1950C>A
c.2403C>A (p.Val801=)
c.2100C>A (p.Val700=)
n.2815C>A
n.2458C>A
19g.11129604C=CA2322780300LDLRc.2739C= (p.Val913=)
c.*550C= (n.*550C=)
c.2361C= (p.Val787=)
c.2481C= (p.Val827=)
c.2735C=
c.1977C= (p.Val659=)
c.2358C= (p.Val786=)
c.1947C= (p.Val649=)
c.2543C= (p.Ser848=)
n.108+1950C=
c.2403C= (p.Val801=)
c.2100C= (p.Val700=)
n.2815C=
n.2458C=
19g.11129604C>GCA404099264LDLRc.2739C>G (p.Val913=)
c.*550C>G (n.*550C>G)
c.2361C>G (p.Val787=)
c.2481C>G (p.Val827=)
c.2735C>G
c.1977C>G (p.Val659=)
c.2358C>G (p.Val786=)
c.1947C>G (p.Val649=)
c.2543C>G (p.Ser848Cys)
n.108+1950C>G
c.2403C>G (p.Val801=)
c.2100C>G (p.Val700=)
n.2815C>G
n.2458C>G
19g.11129604C>TCA040869LDLRc.2739C>T (p.Val913=)
c.*550C>T (n.*550C>T)
c.2361C>T (p.Val787=)
c.2481C>T (p.Val827=)
c.2735C>T
c.1977C>T (p.Val659=)
c.2358C>T (p.Val786=)
c.1947C>T (p.Val649=)
c.2543C>T (p.Ser848Phe)
n.108+1950C>T
c.2403C>T (p.Val801=)
c.2100C>T (p.Val700=)
n.2815C>T
n.2458C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11129604_11129605insAACTTCTGACAACCA040853LDLRc.2739_2740insAACTTCTGACAAC (p.Tyr914AsnfsTer3)
c.*550_*551insAACTTCTGACAAC (n.*550_*551insAACTTCTGACAAC)
c.2361_2362insAACTTCTGACAAC (p.Tyr788AsnfsTer3)
c.2481_2482insAACTTCTGACAAC (p.Tyr828AsnfsTer3)
c.2735_2736insAACTTCTGACAAC
c.1977_1978insAACTTCTGACAAC (p.Tyr660AsnfsTer3)
c.2358_2359insAACTTCTGACAAC (p.Tyr787AsnfsTer3)
c.1947_1948insAACTTCTGACAAC (p.Tyr650AsnfsTer3)
c.2543_2544insAACTTCTGACAAC (p.Ile849ThrfsTer?)
n.108+1950_108+1951insAACTTCTGACAAC
c.2403_2404insAACTTCTGACAAC (p.Tyr802AsnfsTer3)
c.2100_2101insAACTTCTGACAAC (p.Tyr701AsnfsTer3)
n.2815_2816insAACTTCTGACAAC
n.2458_2459insAACTTCTGACAAC
 dbSNP ExAC gnomAD v2
19g.11129605T>ACA404099277LDLRc.2740T>A (p.Tyr914Asn)
c.*551T>A (n.*551T>A)
c.2362T>A (p.Tyr788Asn)
c.2482T>A (p.Tyr828Asn)
c.2736T>A
c.1978T>A (p.Tyr660Asn)
c.2359T>A (p.Tyr787Asn)
c.1948T>A (p.Tyr650Asn)
c.2544T>A (p.Ser848=)
n.108+1951T>A
c.2404T>A (p.Tyr802Asn)
c.2101T>A (p.Tyr701Asn)
n.2816T>A
n.2459T>A
19g.11129605T>CCA10585873LDLRc.2740T>C (p.Tyr914His)
c.*551T>C (n.*551T>C)
c.2362T>C (p.Tyr788His)
c.2482T>C (p.Tyr828His)
c.2736T>C
c.1978T>C (p.Tyr660His)
c.2359T>C (p.Tyr787His)
c.1948T>C (p.Tyr650His)
c.2544T>C (p.Ser848=)
n.108+1951T>C
c.2404T>C (p.Tyr802His)
c.2101T>C (p.Tyr701His)
n.2816T>C
n.2459T>C
 ClinVar dbSNP
19g.11129605T>GCA404099293LDLRc.2740T>G (p.Tyr914Asp)
c.*551T>G (n.*551T>G)
c.2362T>G (p.Tyr788Asp)
c.2482T>G (p.Tyr828Asp)
c.2736T>G
c.1978T>G (p.Tyr660Asp)
c.2359T>G (p.Tyr787Asp)
c.1948T>G (p.Tyr650Asp)
c.2544T>G (p.Ser848=)
n.108+1951T>G
c.2404T>G (p.Tyr802Asp)
c.2101T>G (p.Tyr701Asp)
n.2816T>G
n.2459T>G
19g.11129605T=CA2322780301LDLRc.2740T= (p.Tyr914=)
c.*551T= (n.*551T=)
c.2362T= (p.Tyr788=)
c.2482T= (p.Tyr828=)
c.2736T=
c.1978T= (p.Tyr660=)
c.2359T= (p.Tyr787=)
c.1948T= (p.Tyr650=)
c.2544T= (p.Ser848=)
n.108+1951T=
c.2404T= (p.Tyr802=)
c.2101T= (p.Tyr701=)
n.2816T=
n.2459T=
19g.11129605dupCA16602354LDLRc.2740dup (p.Tyr914LeufsTer8)
c.*551dup (n.*551dup)
c.2362dup (p.Tyr788LeufsTer8)
c.2482dup (p.Tyr828LeufsTer8)
c.2736dup
c.1978dup (p.Tyr660LeufsTer8)
c.2359dup (p.Tyr787LeufsTer8)
c.1948dup (p.Tyr650LeufsTer8)
c.2544dup (p.Ile849TyrfsTer?)
n.108+1951dup
c.2404dup (p.Tyr802LeufsTer8)
c.2101dup (p.Tyr701LeufsTer8)
n.2816dup
n.2459dup
 ClinVar dbSNP
19g.11129606delCA2497030107LDLRc.2741del (p.Tyr914PhefsTer?)
c.*552del (n.*552del)
c.2363del (p.Tyr788PhefsTer?)
c.2483del (p.Tyr828PhefsTer?)
c.2737del
c.1979del (p.Tyr660PhefsTer?)
c.2360del (p.Tyr787PhefsTer?)
c.1949del (p.Tyr650PhefsTer?)
c.2545del (p.Ile849SerfsTer7)
n.108+1952del
c.2405del (p.Tyr802PhefsTer?)
c.2102del (p.Tyr701PhefsTer?)
n.2817del
n.2460del
19g.11129606A=CA2322780302LDLRc.2741A= (p.Tyr914=)
c.*552A= (n.*552A=)
c.2363A= (p.Tyr788=)
c.2483A= (p.Tyr828=)
c.2737A=
c.1979A= (p.Tyr660=)
c.2360A= (p.Tyr787=)
c.1949A= (p.Tyr650=)
c.2545A= (p.Ile849=)
n.108+1952A=
c.2405A= (p.Tyr802=)
c.2102A= (p.Tyr701=)
n.2817A=
n.2460A=
19g.11129606A>CCA10576335LDLRc.2741A>C (p.Tyr914Ser)
c.*552A>C (n.*552A>C)
c.2363A>C (p.Tyr788Ser)
c.2483A>C (p.Tyr828Ser)
c.2737A>C
c.1979A>C (p.Tyr660Ser)
c.2360A>C (p.Tyr787Ser)
c.1949A>C (p.Tyr650Ser)
c.2545A>C (p.Ile849Leu)
n.108+1952A>C
c.2405A>C (p.Tyr802Ser)
c.2102A>C (p.Tyr701Ser)
n.2817A>C
n.2460A>C
 ClinVar dbSNP gnomAD v4
19g.11129606A>GCA023679LDLRc.2741A>G (p.Tyr914Cys)
c.*552A>G (n.*552A>G)
c.2363A>G (p.Tyr788Cys)
c.2483A>G (p.Tyr828Cys)
c.2737A>G
c.1979A>G (p.Tyr660Cys)
c.2360A>G (p.Tyr787Cys)
c.1949A>G (p.Tyr650Cys)
c.2545A>G (p.Ile849Val)
n.108+1952A>G
c.2405A>G (p.Tyr802Cys)
c.2102A>G (p.Tyr701Cys)
n.2817A>G
n.2460A>G
 ClinVar dbSNP gnomAD v4
19g.11129606A>TCA404099295LDLRc.2741A>T (p.Tyr914Phe)
c.*552A>T (n.*552A>T)
c.2363A>T (p.Tyr788Phe)
c.2483A>T (p.Tyr828Phe)
c.2737A>T
c.1979A>T (p.Tyr660Phe)
c.2360A>T (p.Tyr787Phe)
c.1949A>T (p.Tyr650Phe)
c.2545A>T (p.Ile849Phe)
n.108+1952A>T
c.2405A>T (p.Tyr802Phe)
c.2102A>T (p.Tyr701Phe)
n.2817A>T
n.2460A>T
19g.11129607T>ACA404099297LDLRc.2742T>A (p.Tyr914Ter)
c.*553T>A (n.*553T>A)
c.2364T>A (p.Tyr788Ter)
c.2484T>A (p.Tyr828Ter)
c.2738T>A
c.1980T>A (p.Tyr660Ter)
c.2361T>A (p.Tyr787Ter)
c.1950T>A (p.Tyr650Ter)
c.2546T>A (p.Ile849Asn)
n.108+1953T>A
c.2406T>A (p.Tyr802Ter)
c.2103T>A (p.Tyr701Ter)
n.2818T>A
n.2461T>A
19g.11129607T>CCA404099298LDLRc.2742T>C (p.Tyr914=)
c.*553T>C (n.*553T>C)
c.2364T>C (p.Tyr788=)
c.2484T>C (p.Tyr828=)
c.2738T>C
c.1980T>C (p.Tyr660=)
c.2361T>C (p.Tyr787=)
c.1950T>C (p.Tyr650=)
c.2546T>C (p.Ile849Thr)
n.108+1953T>C
c.2406T>C (p.Tyr802=)
c.2103T>C (p.Tyr701=)
n.2818T>C
n.2461T>C
19g.11129607T>GCA404099315LDLRc.2742T>G (p.Tyr914Ter)
c.*553T>G (n.*553T>G)
c.2364T>G (p.Tyr788Ter)
c.2484T>G (p.Tyr828Ter)
c.2738T>G
c.1980T>G (p.Tyr660Ter)
c.2361T>G (p.Tyr787Ter)
c.1950T>G (p.Tyr650Ter)
c.2546T>G (p.Ile849Ser)
n.108+1953T>G
c.2406T>G (p.Tyr802Ter)
c.2103T>G (p.Tyr701Ter)
n.2818T>G
n.2461T>G
19g.11129608C>ACA404099331LDLRc.2743C>A (p.Gln915Lys)
c.*554C>A (n.*554C>A)
c.2365C>A (p.Gln789Lys)
c.2485C>A (p.Gln829Lys)
c.2739C>A
c.1981C>A (p.Gln661Lys)
c.2362C>A (p.Gln788Lys)
c.1951C>A (p.Gln651Lys)
c.2547C>A (p.Ile849=)
n.108+1954C>A
c.2407C>A (p.Gln803Lys)
c.2104C>A (p.Gln702Lys)
n.2819C>A
n.2462C>A
19g.11129608C=CA2322780303LDLRc.2743C= (p.Gln915=)
c.*554C= (n.*554C=)
c.2365C= (p.Gln789=)
c.2485C= (p.Gln829=)
c.2739C=
c.1981C= (p.Gln661=)
c.2362C= (p.Gln788=)
c.1951C= (p.Gln651=)
c.2547C= (p.Ile849=)
n.108+1954C=
c.2407C= (p.Gln803=)
c.2104C= (p.Gln702=)
n.2819C=
n.2462C=
19g.11129608C>GCA404099326LDLRc.2743C>G (p.Gln915Glu)
c.*554C>G (n.*554C>G)
c.2365C>G (p.Gln789Glu)
c.2485C>G (p.Gln829Glu)
c.2739C>G
c.1981C>G (p.Gln661Glu)
c.2362C>G (p.Gln788Glu)
c.1951C>G (p.Gln651Glu)
c.2547C>G (p.Ile849Met)
n.108+1954C>G
c.2407C>G (p.Gln803Glu)
c.2104C>G (p.Gln702Glu)
n.2819C>G
n.2462C>G
19g.11129608C>TCA404099321LDLRc.2743C>T (p.Gln915Ter)
c.*554C>T (n.*554C>T)
c.2365C>T (p.Gln789Ter)
c.2485C>T (p.Gln829Ter)
c.2739C>T
c.1981C>T (p.Gln661Ter)
c.2362C>T (p.Gln788Ter)
c.1951C>T (p.Gln651Ter)
c.2547C>T (p.Ile849=)
n.108+1954C>T
c.2407C>T (p.Gln803Ter)
c.2104C>T (p.Gln702Ter)
n.2819C>T
n.2462C>T
 ClinVar dbSNP
19g.11129609A>CCA404099341LDLRc.2744A>C (p.Gln915Pro)
c.*555A>C (n.*555A>C)
c.2366A>C (p.Gln789Pro)
c.2486A>C (p.Gln829Pro)
c.2740A>C
c.1982A>C (p.Gln661Pro)
c.2363A>C (p.Gln788Pro)
c.1952A>C (p.Gln651Pro)
c.2548A>C (p.Arg850=)
n.108+1955A>C
c.2408A>C (p.Gln803Pro)
c.2105A>C (p.Gln702Pro)
n.2820A>C
n.2463A>C
19g.11129609A>GCA404099343LDLRc.2744A>G (p.Gln915Arg)
c.*555A>G (n.*555A>G)
c.2366A>G (p.Gln789Arg)
c.2486A>G (p.Gln829Arg)
c.2740A>G
c.1982A>G (p.Gln661Arg)
c.2363A>G (p.Gln788Arg)
c.1952A>G (p.Gln651Arg)
c.2548A>G (p.Arg850Gly)
n.108+1955A>G
c.2408A>G (p.Gln803Arg)
c.2105A>G (p.Gln702Arg)
n.2820A>G
n.2463A>G
19g.11129609A>TCA404099346LDLRc.2744A>T (p.Gln915Leu)
c.*555A>T (n.*555A>T)
c.2366A>T (p.Gln789Leu)
c.2486A>T (p.Gln829Leu)
c.2740A>T
c.1982A>T (p.Gln661Leu)
c.2363A>T (p.Gln788Leu)
c.1952A>T (p.Gln651Leu)
c.2548A>T (p.Arg850Ter)
n.108+1955A>T
c.2408A>T (p.Gln803Leu)
c.2105A>T (p.Gln702Leu)
n.2820A>T
n.2463A>T
 gnomAD v4
19g.11129610G>ACA404099352LDLRc.2745G>A (p.Gln915=)
c.*556G>A (n.*556G>A)
c.2367G>A (p.Gln789=)
c.2487G>A (p.Gln829=)
c.2741G>A
c.1983G>A (p.Gln661=)
c.2364G>A (p.Gln788=)
c.1953G>A (p.Gln651=)
c.2549G>A (p.Arg850Lys)
n.108+1956G>A
c.2409G>A (p.Gln803=)
c.2106G>A (p.Gln702=)
n.2821G>A
n.2464G>A
19g.11129610G>CCA404099353LDLRc.2745G>C (p.Gln915His)
c.*556G>C (n.*556G>C)
c.2367G>C (p.Gln789His)
c.2487G>C (p.Gln829His)
c.2741G>C
c.1983G>C (p.Gln661His)
c.2364G>C (p.Gln788His)
c.1953G>C (p.Gln651His)
c.2549G>C (p.Arg850Thr)
n.108+1956G>C
c.2409G>C (p.Gln803His)
c.2106G>C (p.Gln702His)
n.2821G>C
n.2464G>C
 ClinVar dbSNP
19g.11129610G>TCA404099355LDLRc.2745G>T (p.Gln915His)
c.*556G>T (n.*556G>T)
c.2367G>T (p.Gln789His)
c.2487G>T (p.Gln829His)
c.2741G>T
c.1983G>T (p.Gln661His)
c.2364G>T (p.Gln788His)
c.1953G>T (p.Gln651His)
c.2549G>T (p.Arg850Ile)
n.108+1956G>T
c.2409G>T (p.Gln803His)
c.2106G>T (p.Gln702His)
n.2821G>T
n.2464G>T
19g.11129611A>CCA404099361LDLRc.2746A>C (p.Lys916Gln)
c.*557A>C (n.*557A>C)
c.2368A>C (p.Lys790Gln)
c.2488A>C (p.Lys830Gln)
c.2742A>C
c.1984A>C (p.Lys662Gln)
c.2365A>C (p.Lys789Gln)
c.1954A>C (p.Lys652Gln)
c.2550A>C (p.Arg850Ser)
n.108+1957A>C
c.2410A>C (p.Lys804Gln)
c.2107A>C (p.Lys703Gln)
n.2822A>C
n.2465A>C
19g.11129611A>GCA404099372LDLRc.2746A>G (p.Lys916Glu)
c.*557A>G (n.*557A>G)
c.2368A>G (p.Lys790Glu)
c.2488A>G (p.Lys830Glu)
c.2742A>G
c.1984A>G (p.Lys662Glu)
c.2365A>G (p.Lys789Glu)
c.1954A>G (p.Lys652Glu)
c.2550A>G (p.Arg850=)
n.108+1957A>G
c.2410A>G (p.Lys804Glu)
c.2107A>G (p.Lys703Glu)
n.2822A>G
n.2465A>G
19g.11129611A>TCA404099375LDLRc.2746A>T (p.Lys916Ter)
c.*557A>T (n.*557A>T)
c.2368A>T (p.Lys790Ter)
c.2488A>T (p.Lys830Ter)
c.2742A>T
c.1984A>T (p.Lys662Ter)
c.2365A>T (p.Lys789Ter)
c.1954A>T (p.Lys652Ter)
c.2550A>T (p.Arg850Ser)
n.108+1957A>T
c.2410A>T (p.Lys804Ter)
c.2107A>T (p.Lys703Ter)
n.2822A>T
n.2465A>T
 ClinVar dbSNP
19g.11129612A>CCA404099377LDLRc.2747A>C (p.Lys916Thr)
c.*558A>C (n.*558A>C)
c.2369A>C (p.Lys790Thr)
c.2489A>C (p.Lys830Thr)
c.2743A>C
c.1985A>C (p.Lys662Thr)
c.2366A>C (p.Lys789Thr)
c.1955A>C (p.Lys652Thr)
c.2551A>C (p.Arg851=)
n.108+1958A>C
c.2411A>C (p.Lys804Thr)
c.2108A>C (p.Lys703Thr)
n.2823A>C
n.2466A>C
19g.11129612A>GCA404099380LDLRc.2747A>G (p.Lys916Arg)
c.*558A>G (n.*558A>G)
c.2369A>G (p.Lys790Arg)
c.2489A>G (p.Lys830Arg)
c.2743A>G
c.1985A>G (p.Lys662Arg)
c.2366A>G (p.Lys789Arg)
c.1955A>G (p.Lys652Arg)
c.2551A>G (p.Arg851Gly)
n.108+1958A>G
c.2411A>G (p.Lys804Arg)
c.2108A>G (p.Lys703Arg)
n.2823A>G
n.2466A>G
19g.11129612A>TCA404099382LDLRc.2747A>T (p.Lys916Met)
c.*558A>T (n.*558A>T)
c.2369A>T (p.Lys790Met)
c.2489A>T (p.Lys830Met)
c.2743A>T
c.1985A>T (p.Lys662Met)
c.2366A>T (p.Lys789Met)
c.1955A>T (p.Lys652Met)
c.2551A>T (p.Arg851Ter)
n.108+1958A>T
c.2411A>T (p.Lys804Met)
c.2108A>T (p.Lys703Met)
n.2823A>T
n.2466A>T
19g.11129613G>ACA404099392LDLRc.2748G>A (p.Lys916=)
c.*559G>A (n.*559G>A)
c.2370G>A (p.Lys790=)
c.2490G>A (p.Lys830=)
c.2744G>A
c.1986G>A (p.Lys662=)
c.2367G>A (p.Lys789=)
c.1956G>A (p.Lys652=)
c.2552G>A (p.Arg851Lys)
n.108+1959G>A
c.2412G>A (p.Lys804=)
c.2109G>A (p.Lys703=)
n.2824G>A
n.2467G>A
 ClinVar gnomAD v4
19g.11129613G>CCA404099388LDLRc.2748G>C (p.Lys916Asn)
c.*559G>C (n.*559G>C)
c.2370G>C (p.Lys790Asn)
c.2490G>C (p.Lys830Asn)
c.2744G>C
c.1986G>C (p.Lys662Asn)
c.2367G>C (p.Lys789Asn)
c.1956G>C (p.Lys652Asn)
c.2552G>C (p.Arg851Thr)
n.108+1959G>C
c.2412G>C (p.Lys804Asn)
c.2109G>C (p.Lys703Asn)
n.2824G>C
n.2467G>C
19g.11129613G>TCA404099389LDLRc.2748G>T (p.Lys916Asn)
c.*559G>T (n.*559G>T)
c.2370G>T (p.Lys790Asn)
c.2490G>T (p.Lys830Asn)
c.2744G>T
c.1986G>T (p.Lys662Asn)
c.2367G>T (p.Lys789Asn)
c.1956G>T (p.Lys652Asn)
c.2552G>T (p.Arg851Ile)
n.108+1959G>T
c.2412G>T (p.Lys804Asn)
c.2109G>T (p.Lys703Asn)
n.2824G>T
n.2467G>T
19g.11129614A>CCA404099399LDLRc.2749A>C (p.Thr917Pro)
c.*560A>C (n.*560A>C)
c.2371A>C (p.Thr791Pro)
c.2491A>C (p.Thr831Pro)
c.2745A>C
c.1987A>C (p.Thr663Pro)
c.2368A>C (p.Thr790Pro)
c.1957A>C (p.Thr653Pro)
c.2553A>C (p.Arg851Ser)
n.108+1960A>C
c.2413A>C (p.Thr805Pro)
c.2110A>C (p.Thr704Pro)
n.2825A>C
n.2468A>C
19g.11129614A>GCA404099408LDLRc.2749A>G (p.Thr917Ala)
c.*560A>G (n.*560A>G)
c.2371A>G (p.Thr791Ala)
c.2491A>G (p.Thr831Ala)
c.2745A>G
c.1987A>G (p.Thr663Ala)
c.2368A>G (p.Thr790Ala)
c.1957A>G (p.Thr653Ala)
c.2553A>G (p.Arg851=)
n.108+1960A>G
c.2413A>G (p.Thr805Ala)
c.2110A>G (p.Thr704Ala)
n.2825A>G
n.2468A>G
 gnomAD v4
19g.11129614A>TCA404099411LDLRc.2749A>T (p.Thr917Ser)
c.*560A>T (n.*560A>T)
c.2371A>T (p.Thr791Ser)
c.2491A>T (p.Thr831Ser)
c.2745A>T
c.1987A>T (p.Thr663Ser)
c.2368A>T (p.Thr790Ser)
c.1957A>T (p.Thr653Ser)
c.2553A>T (p.Arg851Ser)
n.108+1960A>T
c.2413A>T (p.Thr805Ser)
c.2110A>T (p.Thr704Ser)
n.2825A>T
n.2468A>T
19g.11129615C>ACA404099413LDLRc.2750C>A (p.Thr917Asn)
c.*561C>A (n.*561C>A)
c.2372C>A (p.Thr791Asn)
c.2492C>A (p.Thr831Asn)
c.2746C>A
c.1988C>A (p.Thr663Asn)
c.2369C>A (p.Thr790Asn)
c.1958C>A (p.Thr653Asn)
c.2554C>A (p.Pro852Thr)
n.108+1961C>A
c.2414C>A (p.Thr805Asn)
c.2111C>A (p.Thr704Asn)
n.2826C>A
n.2469C>A
19g.11129615C>GCA404099414LDLRc.2750C>G (p.Thr917Ser)
c.*561C>G (n.*561C>G)
c.2372C>G (p.Thr791Ser)
c.2492C>G (p.Thr831Ser)
c.2746C>G
c.1988C>G (p.Thr663Ser)
c.2369C>G (p.Thr790Ser)
c.1958C>G (p.Thr653Ser)
c.2554C>G (p.Pro852Ala)
n.108+1961C>G
c.2414C>G (p.Thr805Ser)
c.2111C>G (p.Thr704Ser)
n.2826C>G
n.2469C>G
19g.11129615C>TCA404099415LDLRc.2750C>T (p.Thr917Ile)
c.*561C>T (n.*561C>T)
c.2372C>T (p.Thr791Ile)
c.2492C>T (p.Thr831Ile)
c.2746C>T
c.1988C>T (p.Thr663Ile)
c.2369C>T (p.Thr790Ile)
c.1958C>T (p.Thr653Ile)
c.2554C>T (p.Pro852Ser)
n.108+1961C>T
c.2414C>T (p.Thr805Ile)
c.2111C>T (p.Thr704Ile)
n.2826C>T
n.2469C>T
19g.11129616C>ACA404099416LDLRc.2751C>A (p.Thr917=)
c.*562C>A (n.*562C>A)
c.2373C>A (p.Thr791=)
c.2493C>A (p.Thr831=)
c.2747C>A
c.1989C>A (p.Thr663=)
c.2370C>A (p.Thr790=)
c.1959C>A (p.Thr653=)
c.2555C>A (p.Pro852Gln)
n.108+1962C>A
c.2415C>A (p.Thr805=)
c.2112C>A (p.Thr704=)
n.2827C>A
n.2470C>A
19g.11129616C>GCA404099418LDLRc.2751C>G (p.Thr917=)
c.*562C>G (n.*562C>G)
c.2373C>G (p.Thr791=)
c.2493C>G (p.Thr831=)
c.2747C>G
c.1989C>G (p.Thr663=)
c.2370C>G (p.Thr790=)
c.1959C>G (p.Thr653=)
c.2555C>G (p.Pro852Arg)
n.108+1962C>G
c.2415C>G (p.Thr805=)
c.2112C>G (p.Thr704=)
n.2827C>G
n.2470C>G
19g.11129616C>TCA404099423LDLRc.2751C>T (p.Thr917=)
c.*562C>T (n.*562C>T)
c.2373C>T (p.Thr791=)
c.2493C>T (p.Thr831=)
c.2747C>T
c.1989C>T (p.Thr663=)
c.2370C>T (p.Thr790=)
c.1959C>T (p.Thr653=)
c.2555C>T (p.Pro852Leu)
n.108+1962C>T
c.2415C>T (p.Thr805=)
c.2112C>T (p.Thr704=)
n.2827C>T
n.2470C>T
 gnomAD v4 COSMIC
19g.11129617A>CCA404099425LDLRc.2752A>C (p.Thr918Pro)
c.*563A>C (n.*563A>C)
c.2374A>C (p.Thr792Pro)
c.2494A>C (p.Thr832Pro)
c.2748A>C
c.1990A>C (p.Thr664Pro)
c.2371A>C (p.Thr791Pro)
c.1960A>C (p.Thr654Pro)
c.2556A>C (p.Pro852=)
n.108+1963A>C
c.2416A>C (p.Thr806Pro)
c.2113A>C (p.Thr705Pro)
n.2828A>C
n.2471A>C
19g.11129617A>GCA404099426LDLRc.2752A>G (p.Thr918Ala)
c.*563A>G (n.*563A>G)
c.2374A>G (p.Thr792Ala)
c.2494A>G (p.Thr832Ala)
c.2748A>G
c.1990A>G (p.Thr664Ala)
c.2371A>G (p.Thr791Ala)
c.1960A>G (p.Thr654Ala)
c.2556A>G (p.Pro852=)
n.108+1963A>G
c.2416A>G (p.Thr806Ala)
c.2113A>G (p.Thr705Ala)
n.2828A>G
n.2471A>G
19g.11129617A>TCA404099430LDLRc.2752A>T (p.Thr918Ser)
c.*563A>T (n.*563A>T)
c.2374A>T (p.Thr792Ser)
c.2494A>T (p.Thr832Ser)
c.2748A>T
c.1990A>T (p.Thr664Ser)
c.2371A>T (p.Thr791Ser)
c.1960A>T (p.Thr654Ser)
c.2556A>T (p.Pro852=)
n.108+1963A>T
c.2416A>T (p.Thr806Ser)
c.2113A>T (p.Thr705Ser)
n.2828A>T
n.2471A>T
19g.11129618C>ACA404099447LDLRc.2753C>A (p.Thr918Lys)
c.*564C>A (n.*564C>A)
c.2375C>A (p.Thr792Lys)
c.2495C>A (p.Thr832Lys)
c.2749C>A
c.1991C>A (p.Thr664Lys)
c.2372C>A (p.Thr791Lys)
c.1961C>A (p.Thr654Lys)
c.2557C>A (p.Gln853Lys)
n.108+1964C>A
c.2417C>A (p.Thr806Lys)
c.2114C>A (p.Thr705Lys)
n.2829C>A
n.2472C>A
19g.11129618C>GCA404099449LDLRc.2753C>G (p.Thr918Arg)
c.*564C>G (n.*564C>G)
c.2375C>G (p.Thr792Arg)
c.2495C>G (p.Thr832Arg)
c.2749C>G
c.1991C>G (p.Thr664Arg)
c.2372C>G (p.Thr791Arg)
c.1961C>G (p.Thr654Arg)
c.2557C>G (p.Gln853Glu)
n.108+1964C>G
c.2417C>G (p.Thr806Arg)
c.2114C>G (p.Thr705Arg)
n.2829C>G
n.2472C>G
19g.11129618C>TCA404099436LDLRc.2753C>T (p.Thr918Ile)
c.*564C>T (n.*564C>T)
c.2375C>T (p.Thr792Ile)
c.2495C>T (p.Thr832Ile)
c.2749C>T
c.1991C>T (p.Thr664Ile)
c.2372C>T (p.Thr791Ile)
c.1961C>T (p.Thr654Ile)
c.2557C>T (p.Gln853Ter)
n.108+1964C>T
c.2417C>T (p.Thr806Ile)
c.2114C>T (p.Thr705Ile)
n.2829C>T
n.2472C>T
19g.11129619A=CA2322780304LDLRc.2754A= (p.Thr918=)
c.*565A= (n.*565A=)
c.2376A= (p.Thr792=)
c.2496A= (p.Thr832=)
c.2750A=
c.1992A= (p.Thr664=)
c.2373A= (p.Thr791=)
c.1962A= (p.Thr654=)
c.2558A= (p.Gln853=)
n.108+1965A=
c.2418A= (p.Thr806=)
c.2115A= (p.Thr705=)
n.2830A=
n.2473A=
19g.11129619A>CCA404099454LDLRc.2754A>C (p.Thr918=)
c.*565A>C (n.*565A>C)
c.2376A>C (p.Thr792=)
c.2496A>C (p.Thr832=)
c.2750A>C
c.1992A>C (p.Thr664=)
c.2373A>C (p.Thr791=)
c.1962A>C (p.Thr654=)
c.2558A>C (p.Gln853Pro)
n.108+1965A>C
c.2418A>C (p.Thr806=)
c.2115A>C (p.Thr705=)
n.2830A>C
n.2473A>C
19g.11129619A>GCA404099460LDLRc.2754A>G (p.Thr918=)
c.*565A>G (n.*565A>G)
c.2376A>G (p.Thr792=)
c.2496A>G (p.Thr832=)
c.2750A>G
c.1992A>G (p.Thr664=)
c.2373A>G (p.Thr791=)
c.1962A>G (p.Thr654=)
c.2558A>G (p.Gln853Arg)
n.108+1965A>G
c.2418A>G (p.Thr806=)
c.2115A>G (p.Thr705=)
n.2830A>G
n.2473A>G
 ClinVar dbSNP gnomAD v4
19g.11129619A>TCA404099462LDLRc.2754A>T (p.Thr918=)
c.*565A>T (n.*565A>T)
c.2376A>T (p.Thr792=)
c.2496A>T (p.Thr832=)
c.2750A>T
c.1992A>T (p.Thr664=)
c.2373A>T (p.Thr791=)
c.1962A>T (p.Thr654=)
c.2558A>T (p.Gln853Leu)
n.108+1965A>T
c.2418A>T (p.Thr806=)
c.2115A>T (p.Thr705=)
n.2830A>T
n.2473A>T
19g.11129620G>ACA404099465LDLRc.2755G>A (p.Glu919Lys)
c.*566G>A (n.*566G>A)
c.2377G>A (p.Glu793Lys)
c.2497G>A (p.Glu833Lys)
c.2751G>A
c.1993G>A (p.Glu665Lys)
c.2374G>A (p.Glu792Lys)
c.1963G>A (p.Glu655Lys)
c.2559G>A (p.Gln853=)
n.108+1966G>A
c.2419G>A (p.Glu807Lys)
c.2116G>A (p.Glu706Lys)
n.2831G>A
n.2474G>A
 ClinVar dbSNP
19g.11129620G>CCA404099468LDLRc.2755G>C (p.Glu919Gln)
c.*566G>C (n.*566G>C)
c.2377G>C (p.Glu793Gln)
c.2497G>C (p.Glu833Gln)
c.2751G>C
c.1993G>C (p.Glu665Gln)
c.2374G>C (p.Glu792Gln)
c.1963G>C (p.Glu655Gln)
c.2559G>C (p.Gln853His)
n.108+1966G>C
c.2419G>C (p.Glu807Gln)
c.2116G>C (p.Glu706Gln)
n.2831G>C
n.2474G>C
19g.11129620G=CA2322780305LDLRc.2755G= (p.Glu919=)
c.*566G= (n.*566G=)
c.2377G= (p.Glu793=)
c.2497G= (p.Glu833=)
c.2751G=
c.1993G= (p.Glu665=)
c.2374G= (p.Glu792=)
c.1963G= (p.Glu655=)
c.2559G= (p.Gln853=)
n.108+1966G=
c.2419G= (p.Glu807=)
c.2116G= (p.Glu706=)
n.2831G=
n.2474G=
19g.11129620G>TCA404099470LDLRc.2755G>T (p.Glu919Ter)
c.*566G>T (n.*566G>T)
c.2377G>T (p.Glu793Ter)
c.2497G>T (p.Glu833Ter)
c.2751G>T
c.1993G>T (p.Glu665Ter)
c.2374G>T (p.Glu792Ter)
c.1963G>T (p.Glu655Ter)
c.2559G>T (p.Gln853His)
n.108+1966G>T
c.2419G>T (p.Glu807Ter)
c.2116G>T (p.Glu706Ter)
n.2831G>T
n.2474G>T
 dbSNP
19g.11129621A=CA2322780306LDLRc.2756A= (p.Glu919=)
c.*567A= (n.*567A=)
c.2378A= (p.Glu793=)
c.2498A= (p.Glu833=)
c.2752A=
c.1994A= (p.Glu665=)
c.2375A= (p.Glu792=)
c.1964A= (p.Glu655=)
c.2560A= (p.Arg854=)
n.108+1967A=
c.2420A= (p.Glu807=)
c.2117A= (p.Glu706=)
n.2832A=
n.2475A=
19g.11129621A>CCA404099473LDLRc.2756A>C (p.Glu919Ala)
c.*567A>C (n.*567A>C)
c.2378A>C (p.Glu793Ala)
c.2498A>C (p.Glu833Ala)
c.2752A>C
c.1994A>C (p.Glu665Ala)
c.2375A>C (p.Glu792Ala)
c.1964A>C (p.Glu655Ala)
c.2560A>C (p.Arg854=)
n.108+1967A>C
c.2420A>C (p.Glu807Ala)
c.2117A>C (p.Glu706Ala)
n.2832A>C
n.2475A>C
19g.11129621A>GCA404099478LDLRc.2756A>G (p.Glu919Gly)
c.*567A>G (n.*567A>G)
c.2378A>G (p.Glu793Gly)
c.2498A>G (p.Glu833Gly)
c.2752A>G
c.1994A>G (p.Glu665Gly)
c.2375A>G (p.Glu792Gly)
c.1964A>G (p.Glu655Gly)
c.2560A>G (p.Arg854Gly)
n.108+1967A>G
c.2420A>G (p.Glu807Gly)
c.2117A>G (p.Glu706Gly)
n.2832A>G
n.2475A>G
 dbSNP gnomAD v2
19g.11129621A>TCA404099481LDLRc.2756A>T (p.Glu919Val)
c.*567A>T (n.*567A>T)
c.2378A>T (p.Glu793Val)
c.2498A>T (p.Glu833Val)
c.2752A>T
c.1994A>T (p.Glu665Val)
c.2375A>T (p.Glu792Val)
c.1964A>T (p.Glu655Val)
c.2560A>T (p.Arg854Trp)
n.108+1967A>T
c.2420A>T (p.Glu807Val)
c.2117A>T (p.Glu706Val)
n.2832A>T
n.2475A>T
19g.11129621_11129622delinsAGCA2322780307LDLRc.2756_2757delinsAG (p.Glu919=)
c.*567_*568delinsAG (n.*567_*568delinsAG)
c.2378_2379delinsAG (p.Glu793=)
c.2498_2499delinsAG (p.Glu833=)
c.2752_2753delinsAG
c.1994_1995delinsAG (p.Glu665=)
c.2375_2376delinsAG (p.Glu792=)
c.1964_1965delinsAG (p.Glu655=)
c.2560_2561delinsAG (p.Arg854=)
n.108+1967_108+1968delinsAG
c.2420_2421delinsAG (p.Glu807=)
c.2117_2118delinsAG (p.Glu706=)
n.2832_2833delinsAG
n.2475_2476delinsAG
19g.11129622G>ACA404099485LDLRc.2757G>A (p.Glu919=)
c.*568G>A (n.*568G>A)
c.2379G>A (p.Glu793=)
c.2499G>A (p.Glu833=)
c.2753G>A
c.1995G>A (p.Glu665=)
c.2376G>A (p.Glu792=)
c.1965G>A (p.Glu655=)
c.2561G>A (p.Arg854Lys)
n.108+1968G>A
c.2421G>A (p.Glu807=)
c.2118G>A (p.Glu706=)
n.2833G>A
n.2476G>A
 dbSNP
19g.11129622G>CCA404099486LDLRc.2757G>C (p.Glu919Asp)
c.*568G>C (n.*568G>C)
c.2379G>C (p.Glu793Asp)
c.2499G>C (p.Glu833Asp)
c.2753G>C
c.1995G>C (p.Glu665Asp)
c.2376G>C (p.Glu792Asp)
c.1965G>C (p.Glu655Asp)
c.2561G>C (p.Arg854Thr)
n.108+1968G>C
c.2421G>C (p.Glu807Asp)
c.2118G>C (p.Glu706Asp)
n.2833G>C
n.2476G>C
19g.11129622G=CA2322780308LDLRc.2757G= (p.Glu919=)
c.*568G= (n.*568G=)
c.2379G= (p.Glu793=)
c.2499G= (p.Glu833=)
c.2753G=
c.1995G= (p.Glu665=)
c.2376G= (p.Glu792=)
c.1965G= (p.Glu655=)
c.2561G= (p.Arg854=)
n.108+1968G=
c.2421G= (p.Glu807=)
c.2118G= (p.Glu706=)
n.2833G=
n.2476G=
19g.11129622G>TCA040880LDLRc.2757G>T (p.Glu919Asp)
c.*568G>T (n.*568G>T)
c.2379G>T (p.Glu793Asp)
c.2499G>T (p.Glu833Asp)
c.2753G>T
c.1995G>T (p.Glu665Asp)
c.2376G>T (p.Glu792Asp)
c.1965G>T (p.Glu655Asp)
c.2561G>T (p.Arg854Met)
n.108+1968G>T
c.2421G>T (p.Glu807Asp)
c.2118G>T (p.Glu706Asp)
n.2833G>T
n.2476G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11129623delCA645509303LDLRc.2758del (p.Asp920MetfsTer?)
c.*569del (n.*569del)
c.2380del (p.Asp794MetfsTer?)
c.2500del (p.Asp834MetfsTer?)
c.2754del
c.1996del (p.Asp666MetfsTer?)
c.2377del (p.Asp793MetfsTer?)
c.1966del (p.Asp656MetfsTer?)
c.2562del (p.Met855Ter)
n.108+1969del
c.2422del (p.Asp808MetfsTer?)
c.2119del (p.Asp707MetfsTer?)
n.2834del
n.2477del
 ClinVar dbSNP
19g.11129622_11129625delinsGGATCA2322780309LDLRc.2757_2760delinsGGAT (p.Glu919=)
c.*568_*571delinsGGAT (n.*568_*571delinsGGAT)
c.2379_2382delinsGGAT (p.Glu793=)
c.2499_2502delinsGGAT (p.Glu833=)
c.2753_2756delinsGGAT
c.1995_1998delinsGGAT (p.Glu665=)
c.2376_2379delinsGGAT (p.Glu792=)
c.1965_1968delinsGGAT (p.Glu655=)
c.2561_2564delinsGGAT (p.Arg854=)
n.108+1968_108+1971delinsGGAT
c.2421_2424delinsGGAT (p.Glu807=)
c.2118_2121delinsGGAT (p.Glu706=)
n.2833_2836delinsGGAT
n.2476_2479delinsGGAT
19g.11129623G>ACA404099497LDLRc.2758G>A (p.Asp920Asn)
c.*569G>A (n.*569G>A)
c.2380G>A (p.Asp794Asn)
c.2500G>A (p.Asp834Asn)
c.2754G>A
c.1996G>A (p.Asp666Asn)
c.2377G>A (p.Asp793Asn)
c.1966G>A (p.Asp656Asn)
c.2562G>A (p.Arg854=)
n.108+1969G>A
c.2422G>A (p.Asp808Asn)
c.2119G>A (p.Asp707Asn)
n.2834G>A
n.2477G>A
 gnomAD v4
19g.11129623G>CCA404099494LDLRc.2758G>C (p.Asp920His)
c.*569G>C (n.*569G>C)
c.2380G>C (p.Asp794His)
c.2500G>C (p.Asp834His)
c.2754G>C
c.1996G>C (p.Asp666His)
c.2377G>C (p.Asp793His)
c.1966G>C (p.Asp656His)
c.2562G>C (p.Arg854Ser)
n.108+1969G>C
c.2422G>C (p.Asp808His)
c.2119G>C (p.Asp707His)
n.2834G>C
n.2477G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11129623G=CA2322780310LDLRc.2758G= (p.Asp920=)
c.*569G= (n.*569G=)
c.2380G= (p.Asp794=)
c.2500G= (p.Asp834=)
c.2754G=
c.1996G= (p.Asp666=)
c.2377G= (p.Asp793=)
c.1966G= (p.Asp656=)
c.2562G= (p.Arg854=)
n.108+1969G=
c.2422G= (p.Asp808=)
c.2119G= (p.Asp707=)
n.2834G=
n.2477G=
19g.11129623G>TCA404099489LDLRc.2758G>T (p.Asp920Tyr)
c.*569G>T (n.*569G>T)
c.2380G>T (p.Asp794Tyr)
c.2500G>T (p.Asp834Tyr)
c.2754G>T
c.1996G>T (p.Asp666Tyr)
c.2377G>T (p.Asp793Tyr)
c.1966G>T (p.Asp656Tyr)
c.2562G>T (p.Arg854Ser)
n.108+1969G>T
c.2422G>T (p.Asp808Tyr)
c.2119G>T (p.Asp707Tyr)
n.2834G>T
n.2477G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.11129623_11129625delinsCCA10585874LDLRc.2758_2760delinsC (p.Asp920ArgfsTer24)
c.*569_*571delinsC (n.*569_*571delinsC)
c.2380_2382delinsC (p.Asp794ArgfsTer24)
c.2500_2502delinsC (p.Asp834ArgfsTer24)
c.2754_2756delinsC
c.1996_1998delinsC (p.Asp666ArgfsTer24)
c.2377_2379delinsC (p.Asp793ArgfsTer24)
c.1966_1968delinsC (p.Asp656ArgfsTer24)
c.2562_2564delinsC (p.Arg854SerfsTer28)
c.2500_2502delinsC (p.Asp834ArgfsTer22)
n.108+1969_108+1971delinsC
c.2422_2424delinsC (p.Asp808ArgfsTer24)
c.2119_2121delinsC (p.Asp707ArgfsTer24)
n.2834_2836delinsC
n.2477_2479delinsC
 ClinVar dbSNP
19g.11129624A>CCA404099501LDLRc.2759A>C (p.Asp920Ala)
c.*570A>C (n.*570A>C)
c.2381A>C (p.Asp794Ala)
c.2501A>C (p.Asp834Ala)
c.2755A>C
c.1997A>C (p.Asp666Ala)
c.2378A>C (p.Asp793Ala)
c.1967A>C (p.Asp656Ala)
c.2563A>C (p.Met855Leu)
n.108+1970A>C
c.2423A>C (p.Asp808Ala)
c.2120A>C (p.Asp707Ala)
n.2835A>C
n.2478A>C
19g.11129624A>GCA404099503LDLRc.2759A>G (p.Asp920Gly)
c.*570A>G (n.*570A>G)
c.2381A>G (p.Asp794Gly)
c.2501A>G (p.Asp834Gly)
c.2755A>G
c.1997A>G (p.Asp666Gly)
c.2378A>G (p.Asp793Gly)
c.1967A>G (p.Asp656Gly)
c.2563A>G (p.Met855Val)
n.108+1970A>G
c.2423A>G (p.Asp808Gly)
c.2120A>G (p.Asp707Gly)
n.2835A>G
n.2478A>G
19g.11129624A>TCA404099511LDLRc.2759A>T (p.Asp920Val)
c.*570A>T (n.*570A>T)
c.2381A>T (p.Asp794Val)
c.2501A>T (p.Asp834Val)
c.2755A>T
c.1997A>T (p.Asp666Val)
c.2378A>T (p.Asp793Val)
c.1967A>T (p.Asp656Val)
c.2563A>T (p.Met855Leu)
n.108+1970A>T
c.2423A>T (p.Asp808Val)
c.2120A>T (p.Asp707Val)
n.2835A>T
n.2478A>T
19g.11129625T>ACA404099515LDLRc.2760T>A (p.Asp920Glu)
c.*571T>A (n.*571T>A)
c.2382T>A (p.Asp794Glu)
c.2502T>A (p.Asp834Glu)
c.2756T>A
c.1998T>A (p.Asp666Glu)
c.2379T>A (p.Asp793Glu)
c.1968T>A (p.Asp656Glu)
c.2564T>A (p.Met855Lys)
n.108+1971T>A
c.2424T>A (p.Asp808Glu)
c.2121T>A (p.Asp707Glu)
n.2836T>A
n.2479T>A
 gnomAD v4
19g.11129625T>CCA404099517LDLRc.2760T>C (p.Asp920=)
c.*571T>C (n.*571T>C)
c.2382T>C (p.Asp794=)
c.2502T>C (p.Asp834=)
c.2756T>C
c.1998T>C (p.Asp666=)
c.2379T>C (p.Asp793=)
c.1968T>C (p.Asp656=)
c.2564T>C (p.Met855Thr)
n.108+1971T>C
c.2424T>C (p.Asp808=)
c.2121T>C (p.Asp707=)
n.2836T>C
n.2479T>C
19g.11129625T>GCA404099521LDLRc.2760T>G (p.Asp920Glu)
c.*571T>G (n.*571T>G)
c.2382T>G (p.Asp794Glu)
c.2502T>G (p.Asp834Glu)
c.2756T>G
c.1998T>G (p.Asp666Glu)
c.2379T>G (p.Asp793Glu)
c.1968T>G (p.Asp656Glu)
c.2564T>G (p.Met855Arg)
n.108+1971T>G
c.2424T>G (p.Asp808Glu)
c.2121T>G (p.Asp707Glu)
n.2836T>G
n.2479T>G
19g.11129625dupCA2580096346LDLRc.2760dup (p.Glu921Ter)
c.*571dup (n.*571dup)
c.2382dup (p.Glu795Ter)
c.2502dup (p.Glu835Ter)
c.2756dup
c.1998dup (p.Glu667Ter)
c.2379dup (p.Glu794Ter)
c.1968dup (p.Glu657Ter)
c.2564dup (p.Met855IlefsTer28)
n.108+1971dup
c.2424dup (p.Glu809Ter)
c.2121dup (p.Glu708Ter)
n.2836dup
n.2479dup
 ClinVar
19g.11129626G>ACA404099523LDLRc.2761G>A (p.Glu921Lys)
c.*572G>A (n.*572G>A)
c.2383G>A (p.Glu795Lys)
c.2503G>A (p.Glu835Lys)
c.2757G>A
c.1999G>A (p.Glu667Lys)
c.2380G>A (p.Glu794Lys)
c.1969G>A (p.Glu657Lys)
c.2565G>A (p.Met855Ile)
n.108+1972G>A
c.2425G>A (p.Glu809Lys)
c.2122G>A (p.Glu708Lys)
n.2837G>A
n.2480G>A
19g.11129626G>CCA404099525LDLRc.2761G>C (p.Glu921Gln)
c.*572G>C (n.*572G>C)
c.2383G>C (p.Glu795Gln)
c.2503G>C (p.Glu835Gln)
c.2757G>C
c.1999G>C (p.Glu667Gln)
c.2380G>C (p.Glu794Gln)
c.1969G>C (p.Glu657Gln)
c.2565G>C (p.Met855Ile)
n.108+1972G>C
c.2425G>C (p.Glu809Gln)
c.2122G>C (p.Glu708Gln)
n.2837G>C
n.2480G>C
19g.11129626G>TCA404099526LDLRc.2761G>T (p.Glu921Ter)
c.*572G>T (n.*572G>T)
c.2383G>T (p.Glu795Ter)
c.2503G>T (p.Glu835Ter)
c.2757G>T
c.1999G>T (p.Glu667Ter)
c.2380G>T (p.Glu794Ter)
c.1969G>T (p.Glu657Ter)
c.2565G>T (p.Met855Ile)
n.108+1972G>T
c.2425G>T (p.Glu809Ter)
c.2122G>T (p.Glu708Ter)
n.2837G>T
n.2480G>T
19g.11129627A=CA2322780311LDLRc.2762A= (p.Glu921=)
c.*573A= (n.*573A=)
c.2384A= (p.Glu795=)
c.2504A= (p.Glu835=)
c.2758A=
c.2000A= (p.Glu667=)
c.2381A= (p.Glu794=)
c.1970A= (p.Glu657=)
c.2566A= (p.Arg856=)
n.108+1973A=
c.2426A= (p.Glu809=)
c.2123A= (p.Glu708=)
n.2838A=
n.2481A=
19g.11129627A>CCA040890LDLRc.2762A>C (p.Glu921Ala)
c.*573A>C (n.*573A>C)
c.2384A>C (p.Glu795Ala)
c.2504A>C (p.Glu835Ala)
c.2758A>C
c.2000A>C (p.Glu667Ala)
c.2381A>C (p.Glu794Ala)
c.1970A>C (p.Glu657Ala)
c.2566A>C (p.Arg856=)
n.108+1973A>C
c.2426A>C (p.Glu809Ala)
c.2123A>C (p.Glu708Ala)
n.2838A>C
n.2481A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11129627A>GCA404099527LDLRc.2762A>G (p.Glu921Gly)
c.*573A>G (n.*573A>G)
c.2384A>G (p.Glu795Gly)
c.2504A>G (p.Glu835Gly)
c.2758A>G
c.2000A>G (p.Glu667Gly)
c.2381A>G (p.Glu794Gly)
c.1970A>G (p.Glu657Gly)
c.2566A>G (p.Arg856Gly)
n.108+1973A>G
c.2426A>G (p.Glu809Gly)
c.2123A>G (p.Glu708Gly)
n.2838A>G
n.2481A>G
19g.11129627A>TCA404099531LDLRc.2762A>T (p.Glu921Val)
c.*573A>T (n.*573A>T)
c.2384A>T (p.Glu795Val)
c.2504A>T (p.Glu835Val)
c.2758A>T
c.2000A>T (p.Glu667Val)
c.2381A>T (p.Glu794Val)
c.1970A>T (p.Glu657Val)
c.2566A>T (p.Arg856Trp)
n.108+1973A>T
c.2426A>T (p.Glu809Val)
c.2123A>T (p.Glu708Val)
n.2838A>T
n.2481A>T
19g.11129628G>ACA404099534LDLRc.2763G>A (p.Glu921=)
c.*574G>A (n.*574G>A)
c.2385G>A (p.Glu795=)
c.2505G>A (p.Glu835=)
c.2759G>A
c.2001G>A (p.Glu667=)
c.2382G>A (p.Glu794=)
c.1971G>A (p.Glu657=)
c.2567G>A (p.Arg856Lys)
n.108+1974G>A
c.2427G>A (p.Glu809=)
c.2124G>A (p.Glu708=)
n.2839G>A
n.2482G>A
19g.11129628G>CCA404099536LDLRc.2763G>C (p.Glu921Asp)
c.*574G>C (n.*574G>C)
c.2385G>C (p.Glu795Asp)
c.2505G>C (p.Glu835Asp)
c.2759G>C
c.2001G>C (p.Glu667Asp)
c.2382G>C (p.Glu794Asp)
c.1971G>C (p.Glu657Asp)
c.2567G>C (p.Arg856Thr)
n.108+1974G>C
c.2427G>C (p.Glu809Asp)
c.2124G>C (p.Glu708Asp)
n.2839G>C
n.2482G>C
19g.11129628G>TCA404099538LDLRc.2763G>T (p.Glu921Asp)
c.*574G>T (n.*574G>T)
c.2385G>T (p.Glu795Asp)
c.2505G>T (p.Glu835Asp)
c.2759G>T
c.2001G>T (p.Glu667Asp)
c.2382G>T (p.Glu794Asp)
c.1971G>T (p.Glu657Asp)
c.2567G>T (p.Arg856Met)
n.108+1974G>T
c.2427G>T (p.Glu809Asp)
c.2124G>T (p.Glu708Asp)
n.2839G>T
n.2482G>T
19g.11129629G>ACA10585875LDLRc.2764G>A (p.Val922Ile)
c.*575G>A (n.*575G>A)
c.2386G>A (p.Val796Ile)
c.2506G>A (p.Val836Ile)
c.2760G>A
c.2002G>A (p.Val668Ile)
c.2383G>A (p.Val795Ile)
c.1972G>A (p.Val658Ile)
c.2568G>A (p.Arg856=)
n.108+1975G>A
c.2428G>A (p.Val810Ile)
c.2125G>A (p.Val709Ile)
n.2840G>A
n.2483G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.11129629G>CCA404099549LDLRc.2764G>C (p.Val922Leu)
c.*575G>C (n.*575G>C)
c.2386G>C (p.Val796Leu)
c.2506G>C (p.Val836Leu)
c.2760G>C
c.2002G>C (p.Val668Leu)
c.2383G>C (p.Val795Leu)
c.1972G>C (p.Val658Leu)
c.2568G>C (p.Arg856Ser)
n.108+1975G>C
c.2428G>C (p.Val810Leu)
c.2125G>C (p.Val709Leu)
n.2840G>C
n.2483G>C
19g.11129629G=CA2322780312LDLRc.2764G= (p.Val922=)
c.*575G= (n.*575G=)
c.2386G= (p.Val796=)
c.2506G= (p.Val836=)
c.2760G=
c.2002G= (p.Val668=)
c.2383G= (p.Val795=)
c.1972G= (p.Val658=)
c.2568G= (p.Arg856=)
n.108+1975G=
c.2428G= (p.Val810=)
c.2125G= (p.Val709=)
n.2840G=
n.2483G=
19g.11129629G>TCA404099542LDLRc.2764G>T (p.Val922Phe)
c.*575G>T (n.*575G>T)
c.2386G>T (p.Val796Phe)
c.2506G>T (p.Val836Phe)
c.2760G>T
c.2002G>T (p.Val668Phe)
c.2383G>T (p.Val795Phe)
c.1972G>T (p.Val658Phe)
c.2568G>T (p.Arg856Ser)
n.108+1975G>T
c.2428G>T (p.Val810Phe)
c.2125G>T (p.Val709Phe)
n.2840G>T
n.2483G>T
19g.11129630T>ACA404099552LDLRc.2765T>A (p.Val922Asp)
c.*576T>A (n.*576T>A)
c.2387T>A (p.Val796Asp)
c.2507T>A (p.Val836Asp)
c.2761T>A
c.2003T>A (p.Val668Asp)
c.2384T>A (p.Val795Asp)
c.1973T>A (p.Val658Asp)
c.2569T>A (p.Ser857Thr)
n.108+1976T>A
c.2429T>A (p.Val810Asp)
c.2126T>A (p.Val709Asp)
n.2841T>A
n.2484T>A
19g.11129630T>CCA404099554LDLRc.2765T>C (p.Val922Ala)
c.*576T>C (n.*576T>C)
c.2387T>C (p.Val796Ala)
c.2507T>C (p.Val836Ala)
c.2761T>C
c.2003T>C (p.Val668Ala)
c.2384T>C (p.Val795Ala)
c.1973T>C (p.Val658Ala)
c.2569T>C (p.Ser857Pro)
n.108+1976T>C
c.2429T>C (p.Val810Ala)
c.2126T>C (p.Val709Ala)
n.2841T>C
n.2484T>C
19g.11129630T>GCA404099555LDLRc.2765T>G (p.Val922Gly)
c.*576T>G (n.*576T>G)
c.2387T>G (p.Val796Gly)
c.2507T>G (p.Val836Gly)
c.2761T>G
c.2003T>G (p.Val668Gly)
c.2384T>G (p.Val795Gly)
c.1973T>G (p.Val658Gly)
c.2569T>G (p.Ser857Ala)
n.108+1976T>G
c.2429T>G (p.Val810Gly)
c.2126T>G (p.Val709Gly)
n.2841T>G
n.2484T>G
19g.11129630_11129631delinsTCCA2322780313LDLRc.2765_2766delinsTC (p.Val922=)
c.*576_*577delinsTC (n.*576_*577delinsTC)
c.2387_2388delinsTC (p.Val796=)
c.2507_2508delinsTC (p.Val836=)
c.2761_2762delinsTC
c.2003_2004delinsTC (p.Val668=)
c.2384_2385delinsTC (p.Val795=)
c.1973_1974delinsTC (p.Val658=)
c.2569_2570delinsTC (p.Ser857=)
n.108+1976_108+1977delinsTC
c.2429_2430delinsTC (p.Val810=)
c.2126_2127delinsTC (p.Val709=)
n.2841_2842delinsTC
n.2484_2485delinsTC
19g.11129631C>ACA404099561LDLRc.2766C>A (p.Val922=)
c.*577C>A (n.*577C>A)
c.2388C>A (p.Val796=)
c.2508C>A (p.Val836=)
c.2762C>A
c.2004C>A (p.Val668=)
c.2385C>A (p.Val795=)
c.1974C>A (p.Val658=)
c.2570C>A (p.Ser857Tyr)
n.108+1977C>A
c.2430C>A (p.Val810=)
c.2127C>A (p.Val709=)
n.2842C>A
n.2485C>A
19g.11129631C=CA2322780314LDLRc.2766C= (p.Val922=)
c.*577C= (n.*577C=)
c.2388C= (p.Val796=)
c.2508C= (p.Val836=)
c.2762C=
c.2004C= (p.Val668=)
c.2385C= (p.Val795=)
c.1974C= (p.Val658=)
c.2570C= (p.Ser857=)
n.108+1977C=
c.2430C= (p.Val810=)
c.2127C= (p.Val709=)
n.2842C=
n.2485C=
19g.11129631C>GCA404099564LDLRc.2766C>G (p.Val922=)
c.*577C>G (n.*577C>G)
c.2388C>G (p.Val796=)
c.2508C>G (p.Val836=)
c.2762C>G
c.2004C>G (p.Val668=)
c.2385C>G (p.Val795=)
c.1974C>G (p.Val658=)
c.2570C>G (p.Ser857Cys)
n.108+1977C>G
c.2430C>G (p.Val810=)
c.2127C>G (p.Val709=)
n.2842C>G
n.2485C>G
19g.11129631C>TCA404099565LDLRc.2766C>T (p.Val922=)
c.*577C>T (n.*577C>T)
c.2388C>T (p.Val796=)
c.2508C>T (p.Val836=)
c.2762C>T
c.2004C>T (p.Val668=)
c.2385C>T (p.Val795=)
c.1974C>T (p.Val658=)
c.2570C>T (p.Ser857Phe)
n.108+1977C>T
c.2430C>T (p.Val810=)
c.2127C>T (p.Val709=)
n.2842C>T
n.2485C>T
 ClinVar dbSNP
19g.11129632delCA10585876LDLRc.2767del (p.His923ThrfsTer?)
c.*578del (n.*578del)
c.2389del (p.His797ThrfsTer?)
c.2509del (p.His837ThrfsTer?)
c.2763del
c.2005del (p.His669ThrfsTer?)
c.2386del (p.His796ThrfsTer?)
c.1975del (p.His659ThrfsTer?)
c.2571del (p.Thr858HisfsTer21)
n.108+1978del
c.2431del (p.His811ThrfsTer?)
c.2128del (p.His710ThrfsTer?)
n.2843del
n.2486del
 ClinVar dbSNP

Number of alleles fetched